#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_AAChange	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_Codon	i_COSMIC_Gene	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ChromChange	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Drug_Target	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Exon	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_Genome_Plus_Minus_10_Bp	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_NTotCov	i_NVarCov	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_TTotCov	i_TVarCov	i_Transcript_Id	i_Trna_alt1	i_Trna_alt2	i_Trna_ref	i_Trna_tot	i_Trna_var	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	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_dbSNPPopFreq	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_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification
NADK	65220	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	1686870	1686870	+	Missense_Mutation	SNP	A	A	T			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr1:1686870A>T	ENST00000341426.5	-	7	852	c.631T>A	c.(631-633)Ttc>Atc	p.F211I	NADK_ENST00000342348.5_Missense_Mutation_p.F179I|NADK_ENST00000341991.3_Missense_Mutation_p.F211I|NADK_ENST00000344463.4_Missense_Mutation_p.F356I|NADK_ENST00000492768.1_5'Flank|NADK_ENST00000378625.1_Missense_Mutation_p.F356I	NM_023018.4	NP_075394.3	O95544	NADK_HUMAN	NAD kinase	211					ATP metabolic process (GO:0046034)|NAD metabolic process (GO:0019674)|NADP biosynthetic process (GO:0006741)|phosphorylation (GO:0016310)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			NS(1)|autonomic_ganglia(1)|endometrium(4)|large_intestine(2)|lung(4)|ovary(1)|prostate(2)|stomach(1)|urinary_tract(1)	17	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;5.61e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;8.75e-37)|OV - Ovarian serous cystadenocarcinoma(86;2.33e-23)|GBM - Glioblastoma multiforme(42;1.35e-07)|Colorectal(212;0.000203)|COAD - Colon adenocarcinoma(227;0.000225)|Kidney(185;0.00265)|STAD - Stomach adenocarcinoma(132;0.00655)|BRCA - Breast invasive adenocarcinoma(365;0.00855)|KIRC - Kidney renal clear cell carcinoma(229;0.0382)|Lung(427;0.207)		GGGGTCAGGAAGCCCAGGGAG	0.607																																					p.F356I		.											.	NADK-44	0			c.T1066A						.						156.0	158.0	157.0					1																	1686870		2203	4300	6503	SO:0001583	missense	65220	exon9			TCAGGAAGCCCAG	BC001709	CCDS30565.1, CCDS55561.1, CCDS55562.1	1p36.33	2013-04-29			ENSG00000008130	ENSG00000008130	2.7.1.23		29831	protein-coding gene	gene with protein product		611616				11594753	Standard	NM_023018		Approved	FLJ13052	uc001aie.3	O95544	OTTHUMG00000000942	ENST00000341426.5:c.631T>A	1.37:g.1686870A>T	ENSP00000341679:p.Phe211Ile	Somatic	259	0		WXS	Illumina HiSeq	Phase_I	268	48	NM_001198994	0	0	57	90	33	A6NNN3|A8K296|B7Z434|F5GXR5|Q5QPS4|Q9H2P2|Q9H931	Missense_Mutation	SNP	ENST00000341426.5	37	CCDS30565.1	.	.	.	.	.	.	.	.	.	.	A	33	5.256937	0.95336	.	.	ENSG00000008130	ENST00000341426;ENST00000341991;ENST00000378625;ENST00000344463;ENST00000342348;ENST00000400922	T;T;T;T;T;T	0.61158	0.13;0.13;0.13;0.13;0.13;0.13	5.25	5.25	0.73442	ATP-NAD kinase, PpnK-type, alpha/beta (1);ATP-NAD kinase, PpnK-type (1);	0.000000	0.85682	D	0.000000	D	0.84502	0.5486	H	0.98199	4.17	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;0.999;1.0	D;D;D;D	0.97110	1.0;0.997;0.995;0.994	D	0.90129	0.4205	10	0.87932	D	0	-34.481	14.2701	0.66147	1.0:0.0:0.0:0.0	.	179;356;356;211	F5GXR5;Q9H2P2;Q5QPS4;O95544	.;.;.;NADK_HUMAN	I	211;211;356;356;179;179	ENSP00000341679:F211I;ENSP00000344340:F211I;ENSP00000367890:F356I;ENSP00000340925:F356I;ENSP00000339727:F179I;ENSP00000383713:F179I	ENSP00000341679:F211I	F	-	1	0	NADK	1676730	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.884000	0.92432	2.119000	0.64992	0.379000	0.24179	TTC	.		0.607	NADK-003	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000002769.1	NM_023018	
RPL11	6135	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	24021204	24021204	+	Missense_Mutation	SNP	T	T	G			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr1:24021204T>G	ENST00000374550.3	+	4	364	c.319T>G	c.(319-321)Ttt>Gtt	p.F107V	RPL11_ENST00000482370.1_3'UTR	NM_000975.3|NM_001199802.1	NP_000966.2|NP_001186731.1	P62913	RL11_HUMAN	ribosomal protein L11	107					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|protein localization to nucleus (GO:0034504)|protein targeting (GO:0006605)|ribosomal large subunit biogenesis (GO:0042273)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)|translational elongation (GO:0006414)|translational initiation (GO:0006413)|translational termination (GO:0006415)|viral life cycle (GO:0019058)|viral process (GO:0016032)|viral transcription (GO:0019083)	cytosol (GO:0005829)|cytosolic large ribosomal subunit (GO:0022625)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleolus (GO:0005730)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|rRNA binding (GO:0019843)|structural constituent of ribosome (GO:0003735)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(2)	6		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.13e-24)|Colorectal(126;5.06e-08)|COAD - Colon adenocarcinoma(152;2.92e-06)|GBM - Glioblastoma multiforme(114;4.4e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000954)|KIRC - Kidney renal clear cell carcinoma(1967;0.00322)|STAD - Stomach adenocarcinoma(196;0.0124)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0837)|LUSC - Lung squamous cell carcinoma(448;0.185)		AAACTTTGGTTTTGGGATCCA	0.403																																					p.F107V		.											.	RPL11-226	0			c.T319G						.						146.0	143.0	144.0					1																	24021204		2203	4300	6503	SO:0001583	missense	6135	exon4			TTTGGTTTTGGGA	L05092	CCDS238.1	1p36.1-p35	2011-04-06			ENSG00000142676	ENSG00000142676		"""L ribosomal proteins"""	10301	protein-coding gene	gene with protein product		604175				9582194, 10343117	Standard	NM_000975		Approved	L11	uc001bhk.3	P62913	OTTHUMG00000002926	ENST00000374550.3:c.319T>G	1.37:g.24021204T>G	ENSP00000363676:p.Phe107Val	Somatic	127	0		WXS	Illumina HiSeq	Phase_I	131	43	NM_000975	0	0	1566	2399	833	P25121|P39026|Q8TDH2|Q9Y674	Missense_Mutation	SNP	ENST00000374550.3	37	CCDS238.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.400589	0.83120	.	.	ENSG00000142676	ENST00000374550;ENST00000443624;ENST00000458455	D;D;D	0.82344	-1.6;-1.6;-1.6	5.85	5.85	0.93711	Ribosomal protein L5 domain (2);	0.000000	0.85682	D	0.000000	D	0.94159	0.8126	H	0.96301	3.8	0.80722	D	1	P;P	0.52061	0.938;0.95	D;D	0.80764	0.974;0.994	D	0.95729	0.8773	10	0.87932	D	0	-9.5649	16.233	0.82357	0.0:0.0:0.0:1.0	.	106;107	P62913-2;P62913	.;RL11_HUMAN	V	107;105;105	ENSP00000363676:F107V;ENSP00000390839:F105V;ENSP00000398888:F105V	ENSP00000363676:F107V	F	+	1	0	RPL11	23893791	1.000000	0.71417	0.993000	0.49108	0.476000	0.33039	7.874000	0.87199	2.239000	0.73571	0.529000	0.55759	TTT	.		0.403	RPL11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000008168.1	NM_000975	
ZSCAN20	7579	bcgsc.ca	37	1	33956714	33956714	+	Missense_Mutation	SNP	A	A	G			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08	A	A	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr1:33956714A>G	ENST00000361328.3	+	6	1009	c.856A>G	c.(856-858)Agc>Ggc	p.S286G	ZSCAN20_ENST00000373413.2_Missense_Mutation_p.S232G	NM_145238.3	NP_660281	P17040	ZSC20_HUMAN	zinc finger and SCAN domain containing 20	286					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(11)|ovary(2)|pancreas(1)|stomach(1)	31		Myeloproliferative disorder(586;0.0255)|all_neural(195;0.211)				TGGGAAAAGGAGCACTGCAGA	0.468																																					p.S286G													.	ZSCAN20-93	0			c.A856G						.						55.0	55.0	55.0					1																	33956714		1886	4113	5999	SO:0001583	missense	7579	exon6			AAAAGGAGCACTG	X52360	CCDS41300.1	1p34.3	2013-01-08	2007-02-20	2007-02-20	ENSG00000121903	ENSG00000121903		"""-"", ""Zinc fingers, C2H2-type"""	13093	protein-coding gene	gene with protein product		611315	"""zinc finger protein 31 (KOX 29)"", ""zinc finger protein 31"""	ZNF360, ZNF31		2288909	Standard	NM_145238		Approved	KOX29	uc001bxj.4	P17040	OTTHUMG00000004173	ENST00000361328.3:c.856A>G	1.37:g.33956714A>G	ENSP00000355053:p.Ser286Gly	Somatic	77	0		WXS	Illumina HiSeq	Phase_1	78	4	NM_145238	0	0	3	3	0	A8K2D0|B1ALI4|B1ALI5|B1ALI6|Q6ZN23|Q96FA9|Q96H84	Missense_Mutation	SNP	ENST00000361328.3	37	CCDS41300.1	.	.	.	.	.	.	.	.	.	.	A	6.309	0.425166	0.11987	.	.	ENSG00000121903	ENST00000373411;ENST00000326544;ENST00000373413;ENST00000361328;ENST00000401072	T	0.02140	4.43	5.64	3.3	0.37823	.	1.076990	0.06981	N	0.819956	T	0.02267	0.0070	L	0.29908	0.895	0.09310	N	1	B;B;B	0.29988	0.0;0.264;0.0	B;B;B	0.28011	0.001;0.085;0.0	T	0.50583	-0.8811	10	0.26408	T	0.33	-4.0623	5.892	0.18919	0.7468:0.1676:0.0855:0.0	.	286;232;286	P17040-3;P17040-4;P17040	.;.;ZSC20_HUMAN	G	232;286;232;220;220	ENSP00000362512:S232G	ENSP00000324450:S286G	S	+	1	0	ZSCAN20	33729301	0.934000	0.31675	0.009000	0.14445	0.304000	0.27724	1.295000	0.33377	0.495000	0.27882	0.533000	0.62120	AGC	.		0.468	ZSCAN20-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277003.2	NM_145238	
CC2D1B	200014	hgsc.bcm.edu	37	1	52822691	52822691	+	Missense_Mutation	SNP	C	C	G			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr1:52822691C>G	ENST00000371586.2	-	16	2016	c.1878G>C	c.(1876-1878)atG>atC	p.M626I	CC2D1B_ENST00000284376.3_Missense_Mutation_p.M620I|CC2D1B_ENST00000438831.1_Start_Codon_SNP_p.M1I|CC2D1B_ENST00000460261.1_5'UTR	NM_032449.2	NP_115825.1	Q5T0F9	C2D1B_HUMAN	coiled-coil and C2 domain containing 1B	626						nucleus (GO:0005634)	RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			breast(1)|large_intestine(6)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	27						GCTCCAGAAGCATTTTTTGCA	0.602																																					p.M626I		.											.	CC2D1B-92	0			c.G1878C						.						76.0	74.0	75.0					1																	52822691		2188	4292	6480	SO:0001583	missense	200014	exon16			CAGAAGCATTTTT	AB058739	CCDS30714.1	1p32.3	2008-02-05			ENSG00000154222	ENSG00000154222			29386	protein-coding gene	gene with protein product						11347906	Standard	NM_032449		Approved	KIAA1836	uc001ctq.2	Q5T0F9	OTTHUMG00000008102	ENST00000371586.2:c.1878G>C	1.37:g.52822691C>G	ENSP00000360642:p.Met626Ile	Somatic	8	0		WXS	Illumina HiSeq	Phase_I	9	3	NM_032449	0	0	44	71	27	Q49AE8|Q5T0F8|Q5T0G0|Q6ZNQ1|Q96AP3|Q96I04|Q96JJ1	Missense_Mutation	SNP	ENST00000371586.2	37	CCDS30714.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.42|13.42	2.232069|2.232069	0.39399|0.39399	.|.	.|.	ENSG00000154222|ENSG00000154222	ENST00000438021;ENST00000450942|ENST00000371586;ENST00000284376;ENST00000371573;ENST00000438831	.|T;T;T	.|0.41400	.|2.0;2.0;1.0	5.65|5.65	3.78|3.78	0.43462|0.43462	.|.	.|0.267337	.|0.46145	.|N	.|0.000310	T|T	0.20373|0.20373	0.0490|0.0490	N|N	0.08118|0.08118	0|0	0.52501|0.52501	D|D	0.999956|0.999956	.|B;B;B	.|0.02656	.|0.0;0.0;0.0	.|B;B;B	.|0.06405	.|0.0;0.002;0.001	T|T	0.04203|0.04203	-1.0969|-1.0969	5|10	.|0.34782	.|T	.|0.22	-7.9799|-7.9799	6.5654|6.5654	0.22509|0.22509	0.0:0.6133:0.2322:0.1544|0.0:0.6133:0.2322:0.1544	.|.	.|406;620;626	.|Q5T0G1;Q5T0F9-2;Q5T0F9	.|.;.;C2D1B_HUMAN	S|I	407;540|626;620;534;1	.|ENSP00000360642:M626I;ENSP00000284376:M620I;ENSP00000406300:M1I	.|ENSP00000284376:M620I	C|M	-|-	2|3	0|0	CC2D1B|CC2D1B	52595279|52595279	0.998000|0.998000	0.40836|0.40836	1.000000|1.000000	0.80357|0.80357	0.995000|0.995000	0.86356|0.86356	0.398000|0.398000	0.20899|0.20899	0.925000|0.925000	0.37094|0.37094	0.655000|0.655000	0.94253|0.94253	TGC|ATG	.		0.602	CC2D1B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000022189.1	NM_032449	
KCND3	3752	bcgsc.ca	37	1	112525250	112525250	+	Missense_Mutation	SNP	G	G	T			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08	G	G	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr1:112525250G>T	ENST00000315987.2	-	2	578	c.99C>A	c.(97-99)gaC>gaA	p.D33E	KCND3_ENST00000369697.1_Missense_Mutation_p.D33E|KCND3_ENST00000302127.4_Missense_Mutation_p.D33E	NM_004980.4	NP_004971.2	Q9UK17	KCND3_HUMAN	potassium voltage-gated channel, Shal-related subfamily, member 3	33					cell death (GO:0008219)|membrane repolarization (GO:0086009)|potassium ion export (GO:0071435)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|perinuclear endoplasmic reticulum (GO:0097038)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	A-type (transient outward) potassium channel activity (GO:0005250)|ion channel binding (GO:0044325)|metal ion binding (GO:0046872)			NS(1)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(16)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	49		all_cancers(81;8.52e-06)|all_epithelial(167;5.65e-06)|all_lung(203;2.72e-05)|Lung NSC(69;4.56e-05)		all cancers(265;0.056)|Lung(183;0.0576)|Colorectal(144;0.1)|Epithelial(280;0.104)|COAD - Colon adenocarcinoma(174;0.222)|LUSC - Lung squamous cell carcinoma(189;0.231)	Amitriptyline(DB00321)|Dalfampridine(DB06637)|Disopyramide(DB00280)|Imipramine(DB00458)	GCTTGTTCTTGTCGGCCGGGG	0.687																																					p.D33E													.	KCND3-155	0			c.C99A						.						42.0	41.0	41.0					1																	112525250		2203	4300	6503	SO:0001583	missense	3752	exon2			GTTCTTGTCGGCC	AF048713	CCDS843.1, CCDS844.1	1p13.2	2014-09-17			ENSG00000171385	ENSG00000171385		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6239	protein-coding gene	gene with protein product		605411	"""spinocerebellar ataxia 22"", ""spinocerebellar ataxia 19"""	SCA22, SCA19		10942109, 16382104, 23280837	Standard	NM_172198		Approved	Kv4.3, KSHIVB	uc001ebu.1	Q9UK17	OTTHUMG00000011989	ENST00000315987.2:c.99C>A	1.37:g.112525250G>T	ENSP00000319591:p.Asp33Glu	Somatic	52	0		WXS	Illumina HiSeq	Phase_1	84	5	NM_004980	0	0	1	1	0	O60576|O60577|Q14D71|Q5T0M0|Q9UH85|Q9UH86|Q9UK16	Missense_Mutation	SNP	ENST00000315987.2	37	CCDS843.1	.	.	.	.	.	.	.	.	.	.	G	0.198	-1.047052	0.01997	.	.	ENSG00000171385	ENST00000369697;ENST00000315987;ENST00000302127	D;D;D	0.96619	-4.06;-4.07;-4.06	5.41	3.42	0.39159	.	0.275268	0.45361	D	0.000367	D	0.84347	0.5452	L	0.34521	1.04	0.43073	D	0.994718	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.78244	-0.2279	10	0.08381	T	0.77	.	7.0367	0.24996	0.1583:0.2332:0.6085:0.0	.	33;33	Q14D71;Q9UK17	.;KCND3_HUMAN	E	33	ENSP00000358711:D33E;ENSP00000319591:D33E;ENSP00000306923:D33E	ENSP00000306923:D33E	D	-	3	2	KCND3	112326773	0.987000	0.35691	1.000000	0.80357	0.996000	0.88848	0.145000	0.16157	1.286000	0.44565	0.561000	0.74099	GAC	.		0.687	KCND3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000033144.1	NM_172198	
S100A7L2	645922	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	153409541	153409541	+	Missense_Mutation	SNP	C	C	A			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr1:153409541C>A	ENST00000368725.2	-	3	331	c.332G>T	c.(331-333)aGc>aTc	p.S111I		NM_001045479.1	NP_001038944.2	Q5SY68	S1A7B_HUMAN	S100 calcium binding protein A7-like 2	100							calcium ion binding (GO:0005509)			NS(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|skin(1)	8	all_lung(78;2.4e-33)|Lung NSC(65;8.13e-32)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.171)			GGATCACTGGCTTCCCCCGGA	0.498																																					p.S111I		.											.	S100A7L2-69	0			c.G332T						.						158.0	170.0	166.0					1																	153409541		2203	4300	6503	SO:0001583	missense	645922	exon3			CACTGGCTTCCCC			1q21.3	2013-01-10			ENSG00000197364	ENSG00000197364		"""EF-hand domain containing"""	21655	protein-coding gene	gene with protein product							Standard	NM_001045479		Approved	s100a7b	uc010pdx.2	Q5SY68	OTTHUMG00000013129	ENST00000368725.2:c.332G>T	1.37:g.153409541C>A	ENSP00000357714:p.Ser111Ile	Somatic	375	2		WXS	Illumina HiSeq	Phase_I	309	63	NM_001045479	0	0	0	0	0		Missense_Mutation	SNP	ENST00000368725.2	37		.	.	.	.	.	.	.	.	.	.	.	11.15	1.552585	0.27739	.	.	ENSG00000197364	ENST00000368725;ENST00000368724;ENST00000453814	T;T;T	0.11495	2.82;2.82;2.77	1.7	-3.39	0.04868	EF-hand-like domain (1);	.	.	.	.	T	0.01800	0.0057	L	0.27053	0.805	0.09310	N	1	B	0.15719	0.014	B	0.11329	0.006	T	0.45891	-0.9230	9	0.72032	D	0.01	.	2.8096	0.05438	0.2297:0.4461:0.0:0.3242	.	100	Q5SY68	S1A7B_HUMAN	I	100;100;111	ENSP00000357714:S100I;ENSP00000357713:S100I;ENSP00000405610:S111I	ENSP00000357713:S100I	S	-	2	0	S100A7L2	151676165	0.000000	0.05858	0.000000	0.03702	0.029000	0.11900	-1.312000	0.02720	-1.148000	0.02847	0.407000	0.27541	AGC	.		0.498	S100A7L2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000036797.2	NM_001045479	
ZBTB37	84614	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	1	173839638	173839638	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr1:173839638T>C	ENST00000367701.5	+	2	466	c.275T>C	c.(274-276)aTa>aCa	p.I92T	ZBTB37_ENST00000427304.1_Missense_Mutation_p.I92T|ZBTB37_ENST00000367702.1_Missense_Mutation_p.I92T|ZBTB37_ENST00000432989.1_Missense_Mutation_p.I92T|GAS5_ENST00000364084.1_RNA|ZBTB37_ENST00000367704.1_Missense_Mutation_p.I92T			Q5TC79	ZBT37_HUMAN	zinc finger and BTB domain containing 37	92	BTB. {ECO:0000255|PROSITE- ProRule:PRU00037}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)|skin(1)|urinary_tract(4)	13						ACAGGGCGGATATGCCTGCAA	0.433																																					p.I92T		.											.	ZBTB37-90	0			c.T275C						.						74.0	74.0	74.0					1																	173839638		2203	4300	6503	SO:0001583	missense	84614	exon3			GGCGGATATGCCT	AK057310	CCDS1312.1, CCDS44278.1	1q24.2	2013-01-08			ENSG00000185278	ENSG00000185278		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	28365	protein-coding gene	gene with protein product						12477932	Standard	NM_032522		Approved	MGC2629, ZNF908	uc009wwp.1	Q5TC79	OTTHUMG00000037274	ENST00000367701.5:c.275T>C	1.37:g.173839638T>C	ENSP00000356674:p.Ile92Thr	Somatic	71	0		WXS	Illumina HiSeq	Phase_I	80	19	NM_032522	0	0	2	3	1	Q5TC80|Q96M87|Q9BQ88	Missense_Mutation	SNP	ENST00000367701.5	37	CCDS44278.1	.	.	.	.	.	.	.	.	.	.	T	21.3	4.123564	0.77436	.	.	ENSG00000185278	ENST00000367704;ENST00000427304;ENST00000432989;ENST00000367702;ENST00000367701	T;T;T;T;T	0.68025	-0.3;-0.3;-0.3;-0.3;-0.3	5.85	5.85	0.93711	BTB/POZ-like (2);BTB/POZ (1);BTB/POZ fold (2);	0.044936	0.85682	D	0.000000	T	0.71358	0.3330	L	0.48174	1.505	0.58432	D	0.999993	D;P	0.63880	0.993;0.941	D;P	0.68039	0.955;0.736	T	0.75639	-0.3248	10	0.87932	D	0	.	16.2271	0.82306	0.0:0.0:0.0:1.0	.	92;92	Q5TC79;Q5TC79-2	ZBT37_HUMAN;.	T	92	ENSP00000356677:I92T;ENSP00000415293:I92T;ENSP00000409408:I92T;ENSP00000356675:I92T;ENSP00000356674:I92T	ENSP00000356674:I92T	I	+	2	0	ZBTB37	172106261	1.000000	0.71417	0.998000	0.56505	0.996000	0.88848	7.698000	0.84413	2.234000	0.73211	0.460000	0.39030	ATA	.		0.433	ZBTB37-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090729.2	NM_032522	
NFASC	23114	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	1	204923960	204923960	+	Missense_Mutation	SNP	C	C	A			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr1:204923960C>A	ENST00000401399.1	+	6	615	c.416C>A	c.(415-417)tCt>tAt	p.S139Y	NFASC_ENST00000360049.4_Missense_Mutation_p.S133Y|NFASC_ENST00000367169.4_Missense_Mutation_p.S139Y|NFASC_ENST00000338515.6_Missense_Mutation_p.S139Y|NFASC_ENST00000367171.4_Missense_Mutation_p.S139Y|NFASC_ENST00000539706.1_Missense_Mutation_p.S133Y|NFASC_ENST00000404907.1_Missense_Mutation_p.S133Y|NFASC_ENST00000404076.1_Missense_Mutation_p.S133Y|NFASC_ENST00000513543.1_Missense_Mutation_p.S133Y|NFASC_ENST00000367172.4_Missense_Mutation_p.S139Y|NFASC_ENST00000338586.6_Missense_Mutation_p.S139Y|NFASC_ENST00000367170.4_Missense_Mutation_p.S139Y|NFASC_ENST00000339876.6_Missense_Mutation_p.S139Y|NFASC_ENST00000403080.1_Missense_Mutation_p.S139Y			O94856	NFASC_HUMAN	neurofascin	139					axon guidance (GO:0007411)|clustering of voltage-gated sodium channels (GO:0045162)|heterotypic cell-cell adhesion (GO:0034113)|myelination (GO:0042552)|paranodal junction assembly (GO:0030913)|peripheral nervous system development (GO:0007422)|protein localization to juxtaparanode region of axon (GO:0071205)|protein localization to paranode region of axon (GO:0002175)|synapse organization (GO:0050808)|transmission of nerve impulse (GO:0019226)	axon initial segment (GO:0043194)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|node of Ranvier (GO:0033268)|paranodal junction (GO:0033010)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)				NS(1)|breast(4)|central_nervous_system(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	81	all_cancers(21;0.0375)|Breast(84;0.0437)|all_epithelial(62;0.171)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.158)			TCTCCAGAATCTCCTCTGTGG	0.597																																					p.S139Y		.											.	NFASC-139	0			c.C416A						.						105.0	107.0	106.0					1																	204923960		2203	4300	6503	SO:0001583	missense	23114	exon7			CAGAATCTCCTCT	AK027553	CCDS30982.1, CCDS53460.1, CCDS53461.1, CCDS53462.1	1q32.1	2013-02-11	2010-06-24		ENSG00000163531	ENSG00000163531		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	29866	protein-coding gene	gene with protein product		609145	"""neurofascin homolog (chicken)"""			1377696, 8672144	Standard	NM_015090		Approved	NRCAML, KIAA0756, FLJ46866, NF	uc001hbj.3	O94856	OTTHUMG00000151697	ENST00000401399.1:c.416C>A	1.37:g.204923960C>A	ENSP00000385637:p.Ser139Tyr	Somatic	190	0		WXS	Illumina HiSeq	Phase_I	213	51	NM_001005388	0	0	0	0	0	B2RNN8|B3KQZ1|B5MDP6|B5MDR6|B7ZMD8|Q149P5|Q5T2F0|Q5T2F1|Q5T2F2|Q5T2F3|Q5T2F4|Q5T2F5|Q5T2F6|Q5T2F7|Q5T2F9|Q5T2G0|Q5W9F8|Q68DH3|Q6ZQV6|Q7Z3K1|Q96HT1|Q96K50	Missense_Mutation	SNP	ENST00000401399.1	37	CCDS53460.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.3|29.3	4.998077|4.998077	0.93227|0.93227	.|.	.|.	ENSG00000163531|ENSG00000163531	ENST00000367173|ENST00000367172;ENST00000367171;ENST00000367170;ENST00000338515;ENST00000339876;ENST00000338586;ENST00000295776;ENST00000539706;ENST00000360049;ENST00000367169;ENST00000446412;ENST00000403080;ENST00000404076;ENST00000401399;ENST00000404907;ENST00000513543;ENST00000430393	.|T;T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	.|0.72282	.|1.09;-0.64;1.09;1.09;1.09;1.09;1.09;1.09;1.09;1.09;1.09;1.09;1.09;1.09;1.09;1.09	5.37|5.37	5.37|5.37	0.77165|0.77165	.|.	.|0.000000	.|0.52532	.|D	.|0.000064	D|D	0.83069|0.83069	0.5174|0.5174	M|M	0.64260|0.64260	1.97|1.97	0.80722|0.80722	D|D	1|1	.|D;D;D;D;D;D	.|0.89917	.|1.0;1.0;1.0;1.0;1.0;1.0	.|D;D;D;D;D;D	.|0.87578	.|0.998;0.977;0.992;0.977;0.99;0.976	D|D	0.84410|0.84410	0.0565|0.0565	5|10	.|0.72032	.|D	.|0.01	.|.	18.6966|18.6966	0.91603|0.91603	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|133;133;235;139;133;139	.|O94856-11;O94856-8;B4DRH7;O94856-9;O94856-3;O94856-2	.|.;.;.;.;.;.	I|Y	109|139;139;139;139;139;139;133;133;133;139;139;139;133;139;133;133;109	.|ENSP00000356140:S139Y;ENSP00000356139:S139Y;ENSP00000356138:S139Y;ENSP00000342128:S139Y;ENSP00000344786:S139Y;ENSP00000343509:S139Y;ENSP00000438614:S133Y;ENSP00000353154:S133Y;ENSP00000356137:S139Y;ENSP00000412161:S139Y;ENSP00000384875:S139Y;ENSP00000385676:S133Y;ENSP00000385637:S139Y;ENSP00000384061:S133Y;ENSP00000425908:S133Y;ENSP00000415031:S109Y	.|ENSP00000295776:S133Y	L|S	+|+	1|2	0|0	NFASC|NFASC	203190583|203190583	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.982000|0.982000	0.71751|0.71751	7.797000|7.797000	0.85911|0.85911	2.516000|2.516000	0.84829|0.84829	0.655000|0.655000	0.94253|0.94253	CTC|TCT	.		0.597	NFASC-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000131237.1	NM_001005388	
FMN2	56776	bcgsc.ca	37	1	240371517	240371517	+	Silent	SNP	T	T	A	rs369474345		TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08	T	T	-	-	-	-	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr1:240371517T>A	ENST00000319653.9	+	5	3635	c.3405T>A	c.(3403-3405)ctT>ctA	p.L1135L		NM_020066.4	NP_064450.3	Q9NZ56	FMN2_HUMAN	formin 2	1135	FH1.|Pro-rich.				cellular response to DNA damage stimulus (GO:0006974)|cellular response to hypoxia (GO:0071456)|establishment of meiotic spindle localization (GO:0051295)|formin-nucleated actin cable assembly (GO:0070649)|homologous chromosome movement towards spindle pole involved in homologous chromosome segregation (GO:0051758)|intracellular signal transduction (GO:0035556)|intracellular transport (GO:0046907)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein catabolic process (GO:0042177)|oogenesis (GO:0048477)|polar body extrusion after meiotic divisions (GO:0040038)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cell cortex (GO:0005938)|cytoplasmic vesicle membrane (GO:0030659)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|microvillus (GO:0005902)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|spindle (GO:0005819)	actin binding (GO:0003779)			NS(1)|breast(7)|central_nervous_system(6)|cervix(1)|endometrium(14)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(13)|lung(87)|ovary(6)|pancreas(3)|prostate(12)|skin(7)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(2)	178	Ovarian(103;0.127)	all_cancers(173;0.013)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)			CTCCCCCTCTTCCCGGAGCGG	0.706																																					p.L1135L													.	FMN2-145	0			c.T3405A						.	T		30,4102		0,30,2036	6.0	8.0	7.0		3405	-6.6	0.0	1		7	19,8117		0,19,4049	no	coding-synonymous	FMN2	NM_020066.4		0,49,6085	AA,AT,TT		0.2335,0.726,0.3994		1135/1723	240371517	49,12219	2066	4068	6134	SO:0001819	synonymous_variant	56776	exon5			CCCTCTTCCCGGA	AF218942	CCDS31069.2	1q43	2008-02-05			ENSG00000155816	ENSG00000155816			14074	protein-coding gene	gene with protein product		606373				10781961	Standard	NM_020066		Approved		uc010pyd.2	Q9NZ56	OTTHUMG00000039883	ENST00000319653.9:c.3405T>A	1.37:g.240371517T>A		Somatic	32	1		WXS	Illumina HiSeq	Phase_1	41	14	NM_020066	0	0	0	0	0	B0QZA7|B4DP05|Q59GF6|Q5VU37|Q9NZ55	Silent	SNP	ENST00000319653.9	37	CCDS31069.2																																																																																			.		0.706	FMN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096217.2	XM_371352	
ITGB1	3688	broad.mit.edu	37	10	33208866	33208866	+	Silent	SNP	A	A	G			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr10:33208866A>G	ENST00000396033.2	-	11	1551	c.1416T>C	c.(1414-1416)ccT>ccC	p.P472P	ITGB1_ENST00000302278.3_Silent_p.P472P|ITGB1_ENST00000374956.4_Silent_p.P472P|ITGB1_ENST00000423113.1_Silent_p.P472P	NM_133376.2	NP_596867.1	P05556	ITB1_HUMAN	integrin, beta 1 (fibronectin receptor, beta polypeptide, antigen CD29 includes MDF2, MSK12)	472	Cysteine-rich tandem repeats.				axon extension (GO:0048675)|axon guidance (GO:0007411)|B cell differentiation (GO:0030183)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cardiac muscle cell differentiation (GO:0055007)|cell fate specification (GO:0001708)|cell junction assembly (GO:0034329)|cell migration (GO:0016477)|cell migration involved in sprouting angiogenesis (GO:0002042)|cell-cell adhesion mediated by integrin (GO:0033631)|cell-matrix adhesion (GO:0007160)|cell-substrate adhesion (GO:0031589)|cellular calcium ion homeostasis (GO:0006874)|cellular defense response (GO:0006968)|cellular response to ionizing radiation (GO:0071479)|cellular response to mechanical stimulus (GO:0071260)|cellular response to vitamin D (GO:0071305)|extracellular matrix organization (GO:0030198)|formation of radial glial scaffolds (GO:0021943)|G1/S transition of mitotic cell cycle (GO:0000082)|germ cell migration (GO:0008354)|heterotypic cell-cell adhesion (GO:0034113)|homophilic cell adhesion (GO:0007156)|in utero embryonic development (GO:0001701)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|maternal process involved in female pregnancy (GO:0060135)|mesodermal cell differentiation (GO:0048333)|negative regulation of anoikis (GO:2000811)|negative regulation of cell projection organization (GO:0031345)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|protein transport within lipid bilayer (GO:0032594)|regulation of cell cycle (GO:0051726)|regulation of collagen catabolic process (GO:0010710)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|regulation of immune response (GO:0050776)|response to activity (GO:0014823)|response to drug (GO:0042493)|response to gonadotropin (GO:0034698)|response to transforming growth factor beta (GO:0071559)|sarcomere organization (GO:0045214)|tight junction assembly (GO:0070830)|tissue homeostasis (GO:0001894)|viral process (GO:0016032)	acrosomal vesicle (GO:0001669)|basement membrane (GO:0005604)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integrin alpha1-beta1 complex (GO:0034665)|integrin alpha10-beta1 complex (GO:0034680)|integrin alpha11-beta1 complex (GO:0034681)|integrin alpha2-beta1 complex (GO:0034666)|integrin alpha3-beta1 complex (GO:0034667)|integrin alpha7-beta1 complex (GO:0034677)|integrin alpha8-beta1 complex (GO:0034678)|integrin alpha9-beta1 complex (GO:0034679)|integrin complex (GO:0008305)|intercalated disc (GO:0014704)|invadopodium membrane (GO:0071438)|membrane (GO:0016020)|membrane raft (GO:0045121)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|sarcolemma (GO:0042383)	actin binding (GO:0003779)|cell adhesion molecule binding (GO:0050839)|collagen binding involved in cell-matrix adhesion (GO:0098639)|metal ion binding (GO:0046872)|peptide binding (GO:0042277)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|virus receptor activity (GO:0001618)			autonomic_ganglia(1)|breast(2)|endometrium(5)|kidney(2)|large_intestine(8)|lung(11)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	37		Ovarian(717;1.34e-05)|Breast(68;0.0634)			Antithymocyte globulin(DB00098)	TGGGACTTTCAGGGATGCCTT	0.463																																					p.P472P													.	ITGB1-1084	0			c.T1416C						.						136.0	124.0	128.0					10																	33208866		2203	4300	6503	SO:0001819	synonymous_variant	3688	exon11			ACTTTCAGGGATG	BC020057	CCDS7174.1	10p11.2	2010-10-13			ENSG00000150093	ENSG00000150093		"""CD molecules"", ""Integrins"""	6153	protein-coding gene	gene with protein product		135630		FNRB, MSK12, MDF2		2524991	Standard	NM_033668		Approved	CD29, GPIIA	uc001iwt.4	P05556	OTTHUMG00000017928	ENST00000396033.2:c.1416T>C	10.37:g.33208866A>G		Somatic	187	0		WXS	Illumina HiSeq	Phase_I	172	4	NM_002211	0	0	224	225	1	A8K6N2|D3DRX9|D3DRY3|D3DRY4|D3DRY5|P78466|P78467|Q13089|Q13090|Q13091|Q13212|Q14622|Q14647|Q29RW2|Q7Z3V1|Q8WUM6	Silent	SNP	ENST00000396033.2	37	CCDS7174.1																																																																																			.		0.463	ITGB1-202	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000047496.1	NM_002211	
IFIT5	24138	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	10	91177427	91177427	+	Silent	SNP	A	A	G			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr10:91177427A>G	ENST00000371795.4	+	2	684	c.471A>G	c.(469-471)caA>caG	p.Q157Q	IFIT5_ENST00000416601.1_Silent_p.Q157Q	NM_012420.2	NP_036552.1	Q13325	IFIT5_HUMAN	interferon-induced protein with tetratricopeptide repeats 5	157					defense response to virus (GO:0051607)|innate immune response (GO:0045087)	actin cytoskeleton (GO:0015629)|apical part of cell (GO:0045177)|ruffle membrane (GO:0032587)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)|tRNA binding (GO:0000049)			endometrium(1)|large_intestine(4)|lung(4)	9						AGTATTATCAAAAGGCTAAAG	0.443																																					p.Q157Q		.											.	IFIT5-90	0			c.A471G						.						71.0	74.0	73.0					10																	91177427		2203	4300	6503	SO:0001819	synonymous_variant	24138	exon2			TTATCAAAAGGCT	U34605	CCDS7403.1	10q23.31	2013-01-10			ENSG00000152778	ENSG00000152778		"""Tetratricopeptide (TTC) repeat domain containing"""	13328	protein-coding gene	gene with protein product	"""retinoic acid- and interferon-inducible protein (58kD)"""					9398535	Standard	NM_012420		Approved	RI58	uc010qnh.2	Q13325	OTTHUMG00000018713	ENST00000371795.4:c.471A>G	10.37:g.91177427A>G		Somatic	94	0		WXS	Illumina HiSeq	Phase_I	102	24	NM_012420	0	0	10	13	3	B2R5X9|B4DDV1|Q5T7I9|Q6IAX3	Silent	SNP	ENST00000371795.4	37	CCDS7403.1																																																																																			.		0.443	IFIT5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049303.1	NM_012420	
DMBT1	1755	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	10	124352013	124352013	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr10:124352013G>A	ENST00000338354.3	+	20	2508	c.2402G>A	c.(2401-2403)cGc>cAc	p.R801H	DMBT1_ENST00000330163.4_Intron|DMBT1_ENST00000368909.3_Missense_Mutation_p.R801H|DMBT1_ENST00000368956.2_Intron|DMBT1_ENST00000368955.3_Missense_Mutation_p.R791H|DMBT1_ENST00000359586.6_Intron|DMBT1_ENST00000344338.3_Missense_Mutation_p.R791H			Q9UGM3	DMBT1_HUMAN	deleted in malignant brain tumors 1	801	SRCR 6. {ECO:0000255|PROSITE- ProRule:PRU00196}.				defense response to virus (GO:0051607)|epithelial cell differentiation (GO:0030855)|induction of bacterial agglutination (GO:0043152)|innate immune response (GO:0045087)|inner cell mass cell proliferation (GO:0001833)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of epithelial cell differentiation (GO:0030858)|protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)|viral process (GO:0016032)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|phagocytic vesicle membrane (GO:0030670)|proteinaceous extracellular matrix (GO:0005578)|zymogen granule membrane (GO:0042589)	calcium-dependent protein binding (GO:0048306)|scavenger receptor activity (GO:0005044)|signaling pattern recognition receptor activity (GO:0008329)|zymogen binding (GO:0035375)			breast(2)|central_nervous_system(7)|cervix(3)|endometrium(8)|kidney(1)|large_intestine(1)|lung(46)|prostate(1)|urinary_tract(3)	72		all_neural(114;0.0765)|Lung NSC(174;0.132)|all_lung(145;0.163)|Breast(234;0.238)				GATGATGTGCGCTGCTCAGGA	0.607																																					p.R801H	Ovarian(182;93 2026 18125 22222 38972)	.											.	DMBT1-494	0			c.G2402A						.						155.0	114.0	127.0					10																	124352013		2023	4110	6133	SO:0001583	missense	1755	exon20			ATGTGCGCTGCTC		CCDS44490.1, CCDS44491.1, CCDS44492.1	10q25.3-q26.1	2008-08-01			ENSG00000187908	ENSG00000187908			2926	protein-coding gene	gene with protein product		601969				9288095, 17548659	Standard	NM_004406		Approved	GP340, muclin	uc001lgk.1	Q9UGM3	OTTHUMG00000019185	ENST00000338354.3:c.2402G>A	10.37:g.124352013G>A	ENSP00000342210:p.Arg801His	Somatic	254	1		WXS	Illumina HiSeq	Phase_I	321	21	NM_007329	0	0	0	0	0	A6NDG4|A6NDJ5|A8E4R5|B1ARE7|B1ARE8|B1ARE9|B1ARF0|B7Z8Y2|F8WEF7|Q59EX0|Q5JR26|Q6MZN4|Q96DU4|Q9UGM2|Q9UJ57|Q9UKJ4|Q9Y211|Q9Y4V9	Missense_Mutation	SNP	ENST00000338354.3	37		.	.	.	.	.	.	.	.	.	.	G	0.015	-1.564805	0.00903	.	.	ENSG00000187908	ENST00000338354;ENST00000368915;ENST00000341278;ENST00000368953;ENST00000339871;ENST00000368942;ENST00000344338;ENST00000368909;ENST00000368955	T;T;T;T	0.44881	0.91;0.91;0.91;0.91	3.9	-0.752	0.11072	Speract/scavenger receptor (2);Speract/scavenger receptor-related (2);	.	.	.	.	T	0.43233	0.1238	L	0.42008	1.315	0.09310	N	1	D;B;B;B	0.76494	0.999;0.098;0.098;0.119	D;B;B;B	0.63033	0.91;0.005;0.005;0.008	T	0.26224	-1.0109	9	0.33141	T	0.24	.	1.6023	0.02676	0.3222:0.1635:0.395:0.1192	.	562;801;791;801	Q9UGM3-4;Q9UGM3-6;Q9UGM3-3;Q9UGM3	.;.;.;DMBT1_HUMAN	H	801;801;801;801;801;801;791;801;791	ENSP00000342210:R801H;ENSP00000343175:R791H;ENSP00000357905:R801H;ENSP00000357951:R791H	ENSP00000342210:R801H	R	+	2	0	DMBT1	124342003	0.000000	0.05858	0.023000	0.16930	0.017000	0.09413	-1.614000	0.02057	-0.442000	0.07190	-0.219000	0.12488	CGC	.		0.607	DMBT1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050792.2	NM_004406	
MUC5B	727897	hgsc.bcm.edu	37	11	1268402	1268402	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr11:1268402G>A	ENST00000529681.1	+	31	10350	c.10292G>A	c.(10291-10293)aGc>aAc	p.S3431N	MUC5B_ENST00000447027.1_Missense_Mutation_p.S3434N|RP11-532E4.2_ENST00000532061.2_RNA	NM_002458.2	NP_002449.2	Q9HC84	MUC5B_HUMAN	mucin 5B, oligomeric mucus/gel-forming	3431	17 X approximate tandem repeats, Ser/Thr- rich.|7 X Cys-rich subdomain repeats.|Thr-rich.			Missing (in Ref. 6; AAB61398). {ECO:0000305}.	cellular protein metabolic process (GO:0044267)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to glucocorticoid stimulus (GO:0071385)|cellular response to retinoic acid (GO:0071300)|epithelial cell differentiation (GO:0030855)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|response to lipopolysaccharide (GO:0032496)|response to ozone (GO:0010193)|response to sulfur dioxide (GO:0010477)|response to vitamin A (GO:0033189)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)		p.S3410N(1)		cervix(2)|endometrium(36)|kidney(9)|lung(89)|urinary_tract(1)	137		all_cancers(49;6.97e-08)|all_epithelial(84;3.45e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00141)|Lung(200;0.0853)|LUSC - Lung squamous cell carcinoma(625;0.1)		gccaccagcagcacAGTGACT	0.682																																					p.S3431N		.											.	.	1	Substitution - Missense(1)	prostate(1)	c.G10292A						.						41.0	76.0	64.0					11																	1268402		2093	4144	6237	SO:0001583	missense	727897	exon31			CCAGCAGCACAGT	U95031, AF086604	CCDS44515.1, CCDS44515.2	11p15.5	2007-01-19	2006-03-14			ENSG00000117983		"""Mucins"""	7516	protein-coding gene	gene with protein product		600770	"""mucin 5, subtype B, tracheobronchial"""	MUC5		9804771	Standard	NM_002458		Approved	MG1	uc001lta.3	Q9HC84		ENST00000529681.1:c.10292G>A	11.37:g.1268402G>A	ENSP00000436812:p.Ser3431Asn	Somatic	11	0		WXS	Illumina HiSeq	Phase_I	22	6	NM_002458	0	0	0	0	0	O00447|O00573|O14985|O15494|O95291|O95451|Q14881|Q7M4S5|Q99552|Q9UE28	Missense_Mutation	SNP	ENST00000529681.1	37	CCDS44515.2	.	.	.	.	.	.	.	.	.	.	G	3.121	-0.180464	0.06380	.	.	ENSG00000117983	ENST00000529681;ENST00000447027;ENST00000349637	T;T	0.20598	2.06;2.24	2.38	-2.65	0.06095	.	.	.	.	.	T	0.11965	0.0291	L	0.29908	0.895	0.09310	N	1	B	0.11235	0.004	B	0.01281	0.0	T	0.31888	-0.9927	9	0.87932	D	0	.	2.2793	0.04110	0.1745:0.3567:0.3457:0.1231	.	3434	E9PBJ0	.	N	3431;3434;3403	ENSP00000436812:S3431N;ENSP00000415793:S3434N	ENSP00000343037:S3403N	S	+	2	0	MUC5B	1224978	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-1.426000	0.02443	-0.630000	0.05567	-0.714000	0.03626	AGC	.		0.682	MUC5B-002	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000390041.2	XM_001126093	
MS4A8	83661	hgsc.bcm.edu;bcgsc.ca	37	11	60482801	60482801	+	Missense_Mutation	SNP	A	A	G			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr11:60482801A>G	ENST00000300226.2	+	7	870	c.667A>G	c.(667-669)Aac>Gac	p.N223D		NM_031457.1	NP_113645.1	Q9BY19	M4A8_HUMAN	membrane-spanning 4-domains, subfamily A, member 8	223						integral component of membrane (GO:0016021)											CATCTATCCAAACATCTATGC	0.512																																					p.N223D		.											.	.	0			c.A667G						.						139.0	119.0	126.0					11																	60482801		2203	4300	6503	SO:0001583	missense	83661	exon7			TATCCAAACATCT	AF237905	CCDS7990.1	11q12	2013-03-01	2013-03-01	2013-03-01	ENSG00000166959	ENSG00000166959			13380	protein-coding gene	gene with protein product		606549	"""membrane-spanning 4-domains, subfamily A, member 8B"""	MS4A8B		11245982, 11401424	Standard	NM_031457		Approved	MS4A4, CD20L5	uc001npv.3	Q9BY19	OTTHUMG00000167686	ENST00000300226.2:c.667A>G	11.37:g.60482801A>G	ENSP00000300226:p.Asn223Asp	Somatic	79	0		WXS	Illumina HiSeq	Phase_I	75	6	NM_031457	0	0	0	0	0	Q8TCA5	Missense_Mutation	SNP	ENST00000300226.2	37	CCDS7990.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	5.374|5.374	0.254305|0.254305	0.10185|0.10185	.|.	.|.	ENSG00000166959|ENSG00000166959	ENST00000529752|ENST00000300226	T|T	0.18016|0.08008	2.24|3.14	4.21|4.21	1.87|1.87	0.25490|0.25490	.|.	.|.	.|.	.|.	.|.	T|T	0.05318|0.05318	0.0141|0.0141	L|L	0.29908|0.29908	0.895|0.895	0.09310|0.09310	N|N	1|1	.|P	.|0.37466	.|0.596	.|B	.|0.32864	.|0.154	T|T	0.39251|0.39251	-0.9623|-0.9623	7|9	0.15499|0.30078	T|T	0.54|0.28	-8.3887|-8.3887	5.7024|5.7024	0.17889|0.17889	0.7776:0.0:0.2223:0.0|0.7776:0.0:0.2223:0.0	.|.	.|223	.|Q9BY19	.|M4A8B_HUMAN	R|D	205|223	ENSP00000436857:K205R|ENSP00000300226:N223D	ENSP00000436857:K205R|ENSP00000300226:N223D	K|N	+|+	2|1	0|0	MS4A8B|MS4A8B	60239377|60239377	0.001000|0.001000	0.12720|0.12720	0.002000|0.002000	0.10522|0.10522	0.004000|0.004000	0.04260|0.04260	1.017000|1.017000	0.29989|0.29989	0.279000|0.279000	0.22186|0.22186	-0.290000|-0.290000	0.09829|0.09829	AAA|AAC	.		0.512	MS4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395605.1		
HNRNPUL2	221092	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	11	62489600	62489600	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr11:62489600C>A	ENST00000301785.5	-	7	1540	c.1348G>T	c.(1348-1350)Gag>Tag	p.E450*	HNRNPUL2-BSCL2_ENST00000403734.2_Nonsense_Mutation_p.E450*	NM_001079559.2	NP_001073027.1	Q1KMD3	HNRL2_HUMAN	heterogeneous nuclear ribonucleoprotein U-like 2	450						membrane (GO:0016020)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(10)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20						TCACATTCCTCTATGGTCTTG	0.517																																					p.E450X		.											.	HNRNPUL2-22	0			c.G1348T						.						72.0	71.0	71.0					11																	62489600		2062	4209	6271	SO:0001587	stop_gained	221092	exon7			ATTCCTCTATGGT		CCDS41659.1	11q12	2013-07-16		2008-04-18	ENSG00000214753	ENSG00000214753			25451	protein-coding gene	gene with protein product				HNRPUL2			Standard	NM_001079559		Approved	DKFZp762N1910	uc001nuw.3	Q1KMD3	OTTHUMG00000167773	ENST00000301785.5:c.1348G>T	11.37:g.62489600C>A	ENSP00000301785:p.Glu450*	Somatic	74	0		WXS	Illumina HiSeq	Phase_I	101	25	NM_001079559	0	0	0	0	0	Q8N3B3	Nonsense_Mutation	SNP	ENST00000301785.5	37	CCDS41659.1	.	.	.	.	.	.	.	.	.	.	C	38	7.037044	0.98017	.	.	ENSG00000214753	ENST00000301785	.	.	.	5.55	5.55	0.83447	.	0.262799	0.38217	N	0.001774	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-12.715	17.0466	0.86505	0.0:1.0:0.0:0.0	.	.	.	.	X	450	.	ENSP00000301785:E450X	E	-	1	0	HNRNPUL2	62246176	0.998000	0.40836	0.996000	0.52242	0.992000	0.81027	1.869000	0.39519	2.894000	0.99253	0.655000	0.94253	GAG	.		0.517	HNRNPUL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396208.2	XM_495877	
RAD51AP1	10635	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	4657343	4657343	+	Splice_Site	SNP	A	A	T			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr12:4657343A>T	ENST00000544927.1	+	5	415	c.405A>T	c.(403-405)ttA>ttT	p.L135F	RAD51AP1_ENST00000543041.1_Splice_Site_p.L17F|RAD51AP1_ENST00000352618.4_Splice_Site_p.L135F|RAD51AP1_ENST00000228843.9_Splice_Site_p.L152F|RAD51AP1_ENST00000321524.7_Splice_Site_p.L152F					RAD51 associated protein 1											breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|upper_aerodigestive_tract(1)	13			Colorectal(7;0.00306)|COAD - Colon adenocarcinoma(12;0.0389)			GTGATTATTTAGGTAAGtttt	0.289																																					p.L152F		.											.	RAD51AP1-227	0			c.A456T						.						59.0	67.0	64.0					12																	4657343		2202	4298	6500	SO:0001630	splice_region_variant	10635	exon6			TTATTTAGGTAAG	AF006259	CCDS8529.1, CCDS44805.1	12p13.2-p13.1	2004-09-16			ENSG00000111247	ENSG00000111247			16956	protein-coding gene	gene with protein product		603070				9396801	Standard	NM_001130862		Approved	PIR51	uc001qmw.3	Q96B01	OTTHUMG00000168125	ENST00000544927.1:c.406+1A>T	12.37:g.4657343A>T		Somatic	82	0		WXS	Illumina HiSeq	Phase_I	108	46	NM_001130862	0	0	0	0	0		Missense_Mutation	SNP	ENST00000544927.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	17.48|17.48	3.400705|3.400705	0.62177|0.62177	.|.	.|.	ENSG00000111247|ENSG00000111247	ENST00000321524;ENST00000543041;ENST00000228843;ENST00000352618;ENST00000544927|ENST00000536117	T;T;T;T;T|.	0.37058|.	1.22;1.22;1.22;1.22;1.22|.	4.97|4.97	3.82|3.82	0.43975|0.43975	.|.	0.645832|.	0.14584|.	N|.	0.310677|.	T|.	0.48223|.	0.1488|.	L|L	0.41710|0.41710	1.295|1.295	0.34395|0.34395	D|D	0.694667|0.694667	D;B;P;B|.	0.89917|.	1.0;0.185;0.492;0.047|.	D;B;B;B|.	0.85130|.	0.997;0.171;0.171;0.032|.	T|.	0.57306|.	-0.7834|.	10|.	0.46703|.	T|.	0.11|.	-1.5623|-1.5623	8.1351|8.1351	0.31050|0.31050	0.7774:0.2226:0.0:0.0|0.7774:0.2226:0.0:0.0	.|.	17;152;152;135|.	B4DUS5;Q96B01;A8K313;Q96B01-2|.	.;R51A1_HUMAN;.;.|.	F|X	152;17;152;135;135|130	ENSP00000323750:L152F;ENSP00000439960:L17F;ENSP00000228843:L152F;ENSP00000309479:L135F;ENSP00000446296:L135F|.	ENSP00000228843:L152F|.	L|R	+|+	3|1	2|2	RAD51AP1|RAD51AP1	4527604|4527604	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	1.882000|1.882000	0.39648|0.39648	2.085000|2.085000	0.62840|0.62840	0.482000|0.482000	0.46254|0.46254	TTA|AGA	.		0.289	RAD51AP1-012	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000399208.1	NM_006479	Missense_Mutation
LMBR1L	55716	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	49500795	49500795	+	Missense_Mutation	SNP	G	G	T			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr12:49500795G>T	ENST00000267102.8	-	2	448	c.106C>A	c.(106-108)Ctc>Atc	p.L36I	LMBR1L_ENST00000547382.1_Missense_Mutation_p.L36I|LMBR1L_ENST00000395141.4_5'Flank|LMBR1L_ENST00000553204.1_5'UTR	NM_018113.2	NP_060583.2	Q6UX01	LMBRL_HUMAN	limb development membrane protein 1-like	36	LCN1-binding.				endocytosis (GO:0006897)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				endometrium(2)|kidney(2)|large_intestine(1)|lung(5)|pancreas(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						ATGTGGCAGAGGATGTACAGT	0.512																																					p.L36I		.											.	LMBR1L-227	0			c.C106A						.						141.0	161.0	154.0					12																	49500795		2105	4230	6335	SO:0001583	missense	55716	exon2			GGCAGAGGATGTA	AB033000	CCDS8780.2, CCDS73466.1	12q13.12	2013-08-05	2013-08-05		ENSG00000139636	ENSG00000139636			18268	protein-coding gene	gene with protein product		610007	"""limb region 1 homolog (mouse)-like"""			10574461, 11287427	Standard	XM_005269022		Approved	FLJ10494, KIAA1174	uc001rth.4	Q6UX01	OTTHUMG00000150511	ENST00000267102.8:c.106C>A	12.37:g.49500795G>T	ENSP00000267102:p.Leu36Ile	Somatic	219	0		WXS	Illumina HiSeq	Phase_I	317	136	NM_018113	0	0	11	30	19	Q969J4|Q96BY8|Q96HN8|Q9NT09|Q9NVE1|Q9NVU9|Q9ULP6	Missense_Mutation	SNP	ENST00000267102.8	37	CCDS8780.2	.	.	.	.	.	.	.	.	.	.	G	9.092	1.001902	0.19121	.	.	ENSG00000139636	ENST00000267102;ENST00000547382;ENST00000547675;ENST00000550137;ENST00000551854;ENST00000551782	T;T;T;T;T	0.34472	1.36;1.36;1.36;1.36;1.36	5.25	3.45	0.39498	LMBR1-like membrane protein (1);	0.130135	0.52532	D	0.000077	T	0.19685	0.0473	N	0.16368	0.405	0.80722	D	1	P;P	0.36412	0.496;0.552	B;B	0.38428	0.126;0.273	T	0.06625	-1.0816	10	0.02654	T	1	-2.6499	10.8004	0.46485	0.1557:0.0:0.8443:0.0	.	36;36	Q6UX01-3;Q6UX01	.;LMBRL_HUMAN	I	36;36;36;36;41;36	ENSP00000267102:L36I;ENSP00000447329:L36I;ENSP00000447240:L36I;ENSP00000446641:L41I;ENSP00000449633:L36I	ENSP00000267102:L36I	L	-	1	0	LMBR1L	47787062	1.000000	0.71417	1.000000	0.80357	0.911000	0.54048	1.966000	0.40481	0.813000	0.34350	0.563000	0.77884	CTC	.		0.512	LMBR1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318696.1	NM_018113	
TMEM19	55266	broad.mit.edu	37	12	72092800	72092800	+	Missense_Mutation	SNP	C	C	A			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr12:72092800C>A	ENST00000266673.5	+	5	1352	c.758C>A	c.(757-759)cCg>cAg	p.P253Q	TMEM19_ENST00000549735.1_Missense_Mutation_p.P253Q	NM_018279.3	NP_060749.2	Q96HH6	TMM19_HUMAN	transmembrane protein 19	253						integral component of membrane (GO:0016021)				large_intestine(1)|lung(8)	9		Breast(359;0.0889)		GBM - Glioblastoma multiforme(134;0.044)		ATTTCTGCCCCGCAGTGGCCA	0.448																																					p.P253Q													.	TMEM19-90	0			c.C758A						.						207.0	185.0	192.0					12																	72092800		2203	4300	6503	SO:0001583	missense	55266	exon5			CTGCCCCGCAGTG	BC008596	CCDS9002.1	12q15	2004-03-04				ENSG00000139291			25605	protein-coding gene	gene with protein product						12477932	Standard	NM_018279		Approved	FLJ10936	uc001sws.3	Q96HH6	OTTHUMG00000169558	ENST00000266673.5:c.758C>A	12.37:g.72092800C>A	ENSP00000266673:p.Pro253Gln	Somatic	178	1		WXS	Illumina HiSeq	Phase_I	184	5	NM_018279	0	0	58	58	0	B2RDL2|Q53FY3|Q9NV41	Missense_Mutation	SNP	ENST00000266673.5	37	CCDS9002.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.863670	0.91511	.	.	ENSG00000139291	ENST00000266673;ENST00000549735;ENST00000546795	.	.	.	6.06	6.06	0.98353	.	0.240215	0.43579	D	0.000553	T	0.74989	0.3789	L	0.56280	1.765	0.80722	D	1	D;D	0.65815	0.987;0.995	P;D	0.65010	0.875;0.931	T	0.71371	-0.4613	8	.	.	.	-7.3703	18.8014	0.92018	0.0:1.0:0.0:0.0	.	253;253	Q96HH6;Q96HH6-2	TMM19_HUMAN;.	Q	253;253;97	.	.	P	+	2	0	TMEM19	70379067	1.000000	0.71417	0.999000	0.59377	0.980000	0.70556	7.818000	0.86416	2.882000	0.98803	0.655000	0.94253	CCG	.		0.448	TMEM19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404801.1	NM_018279	
PAH	5053	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	103234258	103234258	+	Missense_Mutation	SNP	A	A	G			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr12:103234258A>G	ENST00000553106.1	-	12	1707	c.1235T>C	c.(1234-1236)gTt>gCt	p.V412A	PAH_ENST00000307000.2_Missense_Mutation_p.V407A	NM_000277.1	NP_000268.1	P00439	PH4H_HUMAN	phenylalanine hydroxylase	412					catecholamine biosynthetic process (GO:0042423)|cellular amino acid biosynthetic process (GO:0008652)|cellular nitrogen compound metabolic process (GO:0034641)|L-phenylalanine catabolic process (GO:0006559)|neurotransmitter biosynthetic process (GO:0042136)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	amino acid binding (GO:0016597)|iron ion binding (GO:0005506)|phenylalanine 4-monooxygenase activity (GO:0004505)			endometrium(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(5)|skin(2)|urinary_tract(1)	27					Droxidopa(DB06262)|Epinephrine(DB00668)|L-Phenylalanine(DB00120)|Norepinephrine(DB00368)|Tetrahydrobiopterin(DB00360)	GTCGTAGCGAACTGAGAAGGG	0.448																																					p.V412A		.											.	PAH-72	0			c.T1235C						.						168.0	151.0	157.0					12																	103234258		2203	4300	6503	SO:0001583	missense	5053	exon12			TAGCGAACTGAGA	U49897	CCDS9092.1	12q22-q24.2	2010-04-27				ENSG00000171759	1.14.16.1		8582	protein-coding gene	gene with protein product	"""phenylalanine 4-monooxygenase"""	612349				2063869	Standard	NM_000277		Approved	PH	uc001tjq.1	P00439		ENST00000553106.1:c.1235T>C	12.37:g.103234258A>G	ENSP00000448059:p.Val412Ala	Somatic	140	0		WXS	Illumina HiSeq	Phase_I	144	64	NM_000277	0	0	0	3	3	Q16717|Q8TC14	Missense_Mutation	SNP	ENST00000553106.1	37	CCDS9092.1	.	.	.	.	.	.	.	.	.	.	A	23.1	4.379312	0.82682	.	.	ENSG00000171759	ENST00000553106;ENST00000307000	D;D	0.99755	-6.64;-6.64	5.63	5.63	0.86233	Aromatic amino acid hydroxylase, C-terminal (4);	0.000000	0.85682	D	0.000000	D	0.99405	0.9790	M	0.78637	2.42	0.80722	D	1	P	0.39748	0.686	B	0.42422	0.387	D	0.98750	1.0720	10	0.56958	D	0.05	-29.1046	14.8162	0.70036	1.0:0.0:0.0:0.0	.	412	P00439	PH4H_HUMAN	A	412;407	ENSP00000448059:V412A;ENSP00000303500:V407A	ENSP00000303500:V407A	V	-	2	0	PAH	101758388	1.000000	0.71417	0.993000	0.49108	0.729000	0.41735	8.471000	0.90403	2.152000	0.67230	0.459000	0.35465	GTT	.		0.448	PAH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406692.1		
HCAR2	338442	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	12	123187395	123187395	+	Missense_Mutation	SNP	T	T	A			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr12:123187395T>A	ENST00000328880.5	-	1	495	c.436A>T	c.(436-438)Atc>Ttc	p.I146F	HCAR1_ENST00000356987.2_Intron|RP11-324E6.6_ENST00000543611.1_lincRNA	NM_177551.3	NP_808219.1	Q8TDS4	HCAR2_HUMAN	hydroxycarboxylic acid receptor 2	146					negative regulation of lipid catabolic process (GO:0050995)|neutrophil apoptotic process (GO:0001781)|positive regulation of adiponectin secretion (GO:0070165)|positive regulation of neutrophil apoptotic process (GO:0033031)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nicotinic acid receptor activity (GO:0070553)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(5)|large_intestine(2)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(1)	15					Niacin(DB00627)	CAAGAGATGATGGCTGCTGTC	0.557																																					p.I146F		.											.	HCAR2-91	0			c.A436T						.						128.0	113.0	118.0					12																	123187395		2203	4300	6503	SO:0001583	missense	338442	exon1			AGATGATGGCTGC	AY148884	CCDS9235.1	12q24.31	2012-08-08	2011-05-30	2011-05-30	ENSG00000182782	ENSG00000182782		"""GPCR / Class A : Hydroxy-carboxylic acid receptors"""	24827	protein-coding gene	gene with protein product	"""niacin receptor 1"""	609163	"""G protein-coupled receptor 109A"""	GPR109A		21167710, 12522134, 12646212, 19141678, 18983141, 21454438	Standard	NM_177551		Approved	HCA2, HM74A, PUMAG, Puma-g, NIACR1	uc001ucx.1	Q8TDS4	OTTHUMG00000162722	ENST00000328880.5:c.436A>T	12.37:g.123187395T>A	ENSP00000375066:p.Ile146Phe	Somatic	139	0		WXS	Illumina HiSeq	Phase_I	167	36	NM_177551	0	0	2	2	0	A0PJL5|A7LGG3	Missense_Mutation	SNP	ENST00000328880.5	37	CCDS9235.1	.	.	.	.	.	.	.	.	.	.	T	7.211	0.595394	0.13875	.	.	ENSG00000182782	ENST00000328880;ENST00000536970	T	0.72615	-0.67	5.55	-6.58	0.01836	GPCR, rhodopsin-like superfamily (1);	0.529882	0.18506	N	0.139204	T	0.47783	0.1464	L	0.33189	0.99	0.09310	N	1	B	0.14438	0.01	B	0.19946	0.027	T	0.45454	-0.9260	10	0.10902	T	0.67	-17.8896	9.0102	0.36137	0.0:0.4452:0.345:0.2098	.	146	Q8TDS4	HCAR2_HUMAN	F	146	ENSP00000375066:I146F	ENSP00000375066:I146F	I	-	1	0	HCAR2	121753348	0.001000	0.12720	0.001000	0.08648	0.954000	0.61252	-0.487000	0.06505	-0.941000	0.03700	0.533000	0.62120	ATC	.		0.557	HCAR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370202.1	NM_177551	
CHRNA5	1138	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	15	78885562	78885562	+	Missense_Mutation	SNP	A	A	C	rs558115871		TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr15:78885562A>C	ENST00000299565.5	+	6	1574	c.1374A>C	c.(1372-1374)ttA>ttC	p.L458F	CHRNA5_ENST00000559554.1_3'UTR|CHRNA3_ENST00000348639.3_Intron|RP11-650L12.2_ENST00000567141.1_RNA	NM_000745.3	NP_000736.2	P30532	ACHA5_HUMAN	cholinergic receptor, nicotinic, alpha 5 (neuronal)	458					behavioral response to nicotine (GO:0035095)|cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|ion transmembrane transport (GO:0034220)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	acetylcholine-gated channel complex (GO:0005892)|cell junction (GO:0030054)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|ligand-gated ion channel activity (GO:0015276)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(1)|ovary(1)|prostate(1)|skin(3)	15					Galantamine(DB00674)|Nicotine(DB00184)	CAAATATATTAATACCAGTTC	0.338																																					p.L458F		.											.	CHRNA5-516	0			c.A1374C						.						104.0	94.0	97.0					15																	78885562		2196	4293	6489	SO:0001583	missense	1138	exon6			TATATTAATACCA		CCDS10304.1	15q24	2012-02-11	2012-02-07		ENSG00000169684	ENSG00000169684		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1959	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 5 (neuronal)"""	118505	"""cholinergic receptor, nicotinic, alpha polypeptide 5"""			2004777	Standard	NM_000745		Approved		uc002bdy.3	P30532	OTTHUMG00000143858	ENST00000299565.5:c.1374A>C	15.37:g.78885562A>C	ENSP00000299565:p.Leu458Phe	Somatic	57	0		WXS	Illumina HiSeq	Phase_I	59	13	NM_000745	0	0	1	1	0	Q15824|Q99554	Missense_Mutation	SNP	ENST00000299565.5	37	CCDS10304.1	.	.	.	.	.	.	.	.	.	.	A	12.30	1.895619	0.33442	.	.	ENSG00000169684	ENST00000299565	T	0.78481	-1.18	5.23	-1.75	0.08031	.	0.287773	0.35870	N	0.002933	T	0.50188	0.1601	N	0.08118	0	0.47065	D	0.999304	B	0.18461	0.028	B	0.14023	0.01	T	0.08994	-1.0695	10	0.54805	T	0.06	.	3.7176	0.08444	0.5096:0.0946:0.0656:0.3301	.	458	P30532	ACHA5_HUMAN	F	458	ENSP00000299565:L458F	ENSP00000299565:L458F	L	+	3	2	CHRNA5	76672617	0.756000	0.28383	0.039000	0.18376	0.834000	0.47266	0.062000	0.14389	-0.290000	0.09025	-1.450000	0.01041	TTA	.		0.338	CHRNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000290106.1		
ADCY9	115	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	4029168	4029168	+	Silent	SNP	G	G	A			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr16:4029168G>A	ENST00000294016.3	-	8	3166	c.2628C>T	c.(2626-2628)ccC>ccT	p.P876P		NM_001116.3	NP_001107.2	O60503	ADCY9_HUMAN	adenylate cyclase 9	876					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|cellular response to glucagon stimulus (GO:0071377)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|neurotrophin TRK receptor signaling pathway (GO:0048011)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	adenylate cyclase activity (GO:0004016)|ATP binding (GO:0005524)|metal ion binding (GO:0046872)			breast(4)|central_nervous_system(1)|cervix(2)|endometrium(5)|kidney(3)|large_intestine(11)|lung(9)|ovary(5)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						CGGCCAGTGCGGGAAGCGACA	0.582																																					p.P876P		.											.	ADCY9-139	0			c.C2628T						.						128.0	121.0	124.0					16																	4029168		2197	4300	6497	SO:0001819	synonymous_variant	115	exon8			CAGTGCGGGAAGC	AF036927	CCDS32382.1	16p13.3	2013-02-04				ENSG00000162104	4.6.1.1	"""Adenylate cyclases"""	240	protein-coding gene	gene with protein product		603302				9628827	Standard	NM_001116		Approved	AC9	uc002cvx.3	O60503		ENST00000294016.3:c.2628C>T	16.37:g.4029168G>A		Somatic	140	0		WXS	Illumina HiSeq	Phase_I	157	30	NM_001116	0	0	25	40	15	A7E2V5|A7E2X2|D3DUD1|O60273|Q4ZHT9|Q4ZIR5|Q9BWT4|Q9UGP2	Silent	SNP	ENST00000294016.3	37	CCDS32382.1																																																																																			.		0.582	ADCY9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438076.1		
ACSM3	6296	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	16	20787239	20787239	+	Silent	SNP	C	C	T			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr16:20787239C>T	ENST00000289416.5	+	3	773	c.298C>T	c.(298-300)Ctg>Ttg	p.L100L	ACSM3_ENST00000450120.2_Silent_p.L55L|ACSM3_ENST00000440284.2_Silent_p.L100L	NM_005622.3	NP_005613.2	Q53FZ2	ACSM3_HUMAN	acyl-CoA synthetase medium-chain family member 3	100			L -> P (in dbSNP:rs5713).		cholesterol homeostasis (GO:0042632)|fatty acid biosynthetic process (GO:0006633)|regulation of blood pressure (GO:0008217)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)|fatty acid ligase activity (GO:0015645)|metal ion binding (GO:0046872)			breast(1)|endometrium(5)|kidney(2)|large_intestine(1)|lung(9)|ovary(1)|prostate(2)	21						TTTTGAGGAACTGGGATCTCT	0.458																																					p.L100L		.											.	ACSM3-91	0			c.C298T						.						119.0	127.0	125.0					16																	20787239		2201	4300	6501	SO:0001819	synonymous_variant	6296	exon3			GAGGAACTGGGAT	D16350	CCDS10589.1, CCDS45435.1	16p13.11	2006-02-08	2005-09-08	2005-09-08	ENSG00000005187	ENSG00000005187		"""Acyl-CoA synthetase family"""	10522	protein-coding gene	gene with protein product		145505	"""SA (rat hypertension-associated) homolog"", ""SA hypertension-associated homolog (rat)"""	SAH		7843754, 7907320, 11470804	Standard	NM_005622		Approved	SA	uc002dhr.3	Q53FZ2	OTTHUMG00000131552	ENST00000289416.5:c.298C>T	16.37:g.20787239C>T		Somatic	188	0		WXS	Illumina HiSeq	Phase_I	248	53	NM_005622	0	0	16	31	15	O60363|Q13732|Q15425|Q7KYM6|Q9BUA2	Silent	SNP	ENST00000289416.5	37	CCDS10589.1																																																																																			.		0.458	ACSM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254414.2	NM_005622	
WDR81	124997	hgsc.bcm.edu;ucsc.edu;bcgsc.ca	37	17	1631524	1631524	+	Missense_Mutation	SNP	G	G	A			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr17:1631524G>A	ENST00000409644.1	+	1	3271	c.3271G>A	c.(3271-3273)Gtg>Atg	p.V1091M	RP11-961A15.1_ENST00000576540.1_RNA|WDR81_ENST00000545662.1_5'Flank|WDR81_ENST00000309182.5_Missense_Mutation_p.V40M|WDR81_ENST00000446363.1_Intron|WDR81_ENST00000419248.1_Intron|WDR81_ENST00000437219.2_Intron	NM_001163809.1	NP_001157281.1	Q562E7	WDR81_HUMAN	WD repeat domain 81	1091					negative regulation of phosphatase activity (GO:0010923)		transferase activity, transferring phosphorus-containing groups (GO:0016772)			cervix(1)|endometrium(1)|kidney(3)|lung(6)|ovary(2)|prostate(2)|skin(1)	16				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CGGGCTCTATGTGACTGAGTC	0.662																																					p.V1091M		.											.	WDR81-91	0			c.G3271A						.						38.0	45.0	43.0					17																	1631524		2202	4299	6501	SO:0001583	missense	124997	exon1			CTCTATGTGACTG	AK074111	CCDS54061.1, CCDS54062.1, CCDS54063.1	17p13.3	2014-06-13			ENSG00000167716	ENSG00000167716		"""WD repeat domain containing"""	26600	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 166"""	614218					Standard	NM_001163673		Approved	FLJ33817, PPP1R166	uc002ftj.2	Q562E7	OTTHUMG00000153941	ENST00000409644.1:c.3271G>A	17.37:g.1631524G>A	ENSP00000386609:p.Val1091Met	Somatic	102	0		WXS	Illumina HiSeq	Phase_I	152	25	NM_001163809	0	0	18	18	0	B3KW16|B3KXU1|B7Z579|E9PHG7|Q24JP6|Q8N277|Q8N3F3|Q8TEL1	Missense_Mutation	SNP	ENST00000409644.1	37	CCDS54062.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.473006	0.84640	.	.	ENSG00000167716	ENST00000309182;ENST00000409644;ENST00000354680	T;T	0.56103	2.09;0.48	5.65	5.65	0.86999	.	0.060024	0.64402	D	0.000003	T	0.65481	0.2695	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.76071	0.987;0.987	T	0.67589	-0.5632	10	0.87932	D	0	.	19.7221	0.96147	0.0:0.0:1.0:0.0	.	218;40	Q8TEL1;Q562E7	.;WDR81_HUMAN	M	40;1091;40	ENSP00000312074:V40M;ENSP00000386609:V1091M	ENSP00000312074:V40M	V	+	1	0	WDR81	1578274	1.000000	0.71417	0.962000	0.40283	0.655000	0.38815	9.327000	0.96396	2.679000	0.91253	0.655000	0.94253	GTG	.		0.662	WDR81-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333118.2	NM_152348	
PELP1	27043	hgsc.bcm.edu	37	17	4575451	4575451	+	Silent	SNP	T	T	C	rs371486511	byFrequency	TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr17:4575451T>C	ENST00000574876.1	-	16	2852	c.2835A>G	c.(2833-2835)gaA>gaG	p.E945E	PELP1_ENST00000572293.1_Silent_p.E995E|PELP1_ENST00000436683.2_Silent_p.E798E|PELP1_ENST00000269230.7_Silent_p.E855E|PELP1_ENST00000301396.4_Silent_p.E1089E			Q8IZL8	PELP1_HUMAN	proline, glutamate and leucine rich protein 1	945	Glu-rich.				cellular response to estrogen stimulus (GO:0071391)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|MLL1 complex (GO:0071339)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	chromatin binding (GO:0003682)|poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(2)|endometrium(2)|large_intestine(2)|lung(3)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	15						cctcttcttcttcttcctcta	0.473													T|||	6	0.00119808	0.0045	0.0	5008	,	,		16232	0.0		0.0	False		,,,				2504	0.0				p.E945E		.											.	PELP1-24	0			c.A2835G						.	T		25,4097		0,25,2036	59.0	61.0	61.0		2835	-1.2	1.0	17		61	0,8276		0,0,4138	no	coding-synonymous	PELP1	NM_014389.2		0,25,6174	CC,CT,TT		0.0,0.6065,0.2016		945/1131	4575451	25,12373	2061	4138	6199	SO:0001819	synonymous_variant	27043	exon16			TTCTTCTTCTTCC		CCDS58503.1, CCDS58503.2, CCDS62038.1	17p13.2	2012-05-02	2008-02-21			ENSG00000141456			30134	protein-coding gene	gene with protein product		609455	"""proline, glutamic acid and leucine rich protein 1"""			11481323, 12682072	Standard	NM_014389		Approved	MNAR	uc002fyi.4	Q8IZL8		ENST00000574876.1:c.2835A>G	17.37:g.4575451T>C		Somatic	6	2		WXS	Illumina HiSeq	Phase_I	9	4	NM_014389	0	0	33	98	65	O15450|Q5EGN3|Q6NTE6|Q96FT1|Q9BU60	Silent	SNP	ENST00000574876.1	37	CCDS58503.1																																																																																			.		0.473	PELP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000439140.2	NM_014389	
RNF167	26001	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	4848277	4848277	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr17:4848277T>C	ENST00000262482.6	+	10	1675	c.1019T>C	c.(1018-1020)cTg>cCg	p.L340P	RNF167_ENST00000576229.1_Missense_Mutation_p.L305P|RNF167_ENST00000575111.1_Missense_Mutation_p.L340P|RNF167_ENST00000571816.1_Missense_Mutation_p.L340P|RNF167_ENST00000572430.1_Missense_Mutation_p.L340P	NM_015528.1	NP_056343.1	Q9H6Y7	RN167_HUMAN	ring finger protein 167	340					negative regulation of cell cycle (GO:0045786)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(2)|lung(1)	4						GATCCCCCACTGTCCCCTCCC	0.552																																					p.L340P		.											.	RNF167-226	0			c.T1019C						.						178.0	184.0	182.0					17																	4848277		2203	4300	6503	SO:0001583	missense	26001	exon10			CCCCACTGTCCCC	AL050060	CCDS11060.1	17p13.3	2013-02-21			ENSG00000108523	ENSG00000108523		"""RING-type (C3HC4) zinc fingers"""	24544	protein-coding gene	gene with protein product		610431				23129617, 23353890	Standard	NM_015528		Approved	DKFZP566H073	uc002fzs.3	Q9H6Y7	OTTHUMG00000099397	ENST00000262482.6:c.1019T>C	17.37:g.4848277T>C	ENSP00000262482:p.Leu340Pro	Somatic	309	1		WXS	Illumina HiSeq	Phase_I	450	100	NM_015528	0	0	363	470	107	D3DTK8|Q6XYE0|Q8NDC1|Q9Y3V1	Missense_Mutation	SNP	ENST00000262482.6	37	CCDS11060.1	.	.	.	.	.	.	.	.	.	.	C	13.44	2.237518	0.39498	.	.	ENSG00000108523	ENST00000262482	T	0.03772	3.81	4.54	4.54	0.55810	.	0.650642	0.14127	N	0.339643	T	0.02193	0.0068	N	0.01874	-0.695	0.09310	N	0.999998	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.45614	-0.9249	10	0.29301	T	0.29	-1.1064	8.9285	0.35655	0.0:0.897:0.0:0.103	.	148;340	Q9Y4L6;Q9H6Y7	.;RN167_HUMAN	P	340	ENSP00000262482:L340P	ENSP00000262482:L340P	L	+	2	0	RNF167	4789022	0.041000	0.20044	0.029000	0.17559	0.015000	0.08874	2.010000	0.40913	1.285000	0.44548	-0.226000	0.12346	CTG	.		0.552	RNF167-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216854.3	NM_015528	
KIF1C	10749	ucsc.edu	37	17	4908297	4908297	+	Splice_Site	SNP	T	T	C			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr17:4908297T>C	ENST00000320785.5	+	13	1522		c.e13+2			NM_006612.5	NP_006603.2	O43896	KIF1C_HUMAN	kinesin family member 1C						ATP catabolic process (GO:0006200)|cell death (GO:0008219)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|vesicle-mediated transport (GO:0016192)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|motor activity (GO:0003774)|plus-end-directed microtubule motor activity (GO:0008574)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|endometrium(4)|kidney(2)|large_intestine(8)|lung(6)|skin(1)|urinary_tract(3)	30						CTCTGGAAGGTCGAGGTTCCA	0.637																																					.	Melanoma(96;1023 1447 10250 19259 33730)												.	KIF1C-92	0			c.1165+2T>C						.						82.0	87.0	85.0					17																	4908297		2203	4300	6503	SO:0001630	splice_region_variant	10749	exon13			GGAAGGTCGAGGT	U91329	CCDS11065.1	17p13.2	2014-03-03			ENSG00000129250	ENSG00000129250		"""Kinesins"""	6317	protein-coding gene	gene with protein product		603060	"""spastic ataxia 2 (autosomal recessive)"""	SAX2		9685376, 24319291, 24482476	Standard	NM_006612		Approved	SPAX2, SPG58	uc002gan.2	O43896	OTTHUMG00000099451	ENST00000320785.5:c.1165+2T>C	17.37:g.4908297T>C		Somatic	155	1		WXS	Illumina HiSeq		210	1	NM_006612	0	0	0	0	0	D3DTL6|O75186|Q5U618	Splice_Site	SNP	ENST00000320785.5	37	CCDS11065.1	.	.	.	.	.	.	.	.	.	.	T	14.28	2.488597	0.44249	.	.	ENSG00000129250	ENST00000320785	.	.	.	5.35	5.35	0.76521	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.6038	0.62035	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	KIF1C	4849021	0.998000	0.40836	0.965000	0.40720	0.282000	0.26991	2.684000	0.46951	2.158000	0.67659	0.533000	0.62120	.	.		0.637	KIF1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216916.1		Intron
SLC16A11	162515	hgsc.bcm.edu	37	17	6946083	6946083	+	Splice_Site	SNP	C	C	T			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr17:6946083C>T	ENST00000308009.1	-	3	756		c.e3-1		SLC16A11_ENST00000447225.1_Splice_Site	NM_153357.1	NP_699188.1	Q8NCK7	MOT11_HUMAN	solute carrier family 16, member 11						lipid metabolic process (GO:0006629)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	symporter activity (GO:0015293)			endometrium(2)|kidney(2)|lung(2)|ovary(1)|skin(2)	9						CAACCAAAGCCTGCGAATGAA	0.706																																					.		.											.	SLC16A11-91	0			c.419-1G>A						.						3.0	4.0	3.0					17																	6946083		1887	3795	5682	SO:0001630	splice_region_variant	162515	exon4			CAAAGCCTGCGAA	AK074674	CCDS11086.1	17p13.2	2013-07-18	2013-07-18		ENSG00000174326	ENSG00000174326		"""Solute carriers"""	23093	protein-coding gene	gene with protein product	"""monocarboxylic acid transporter 11"""	615765	"""solute carrier family 16 (monocarboxylic acid transporters), member 11"""				Standard	NM_153357		Approved	FLJ90193, MCT11	uc002gei.1	Q8NCK7	OTTHUMG00000102087	ENST00000308009.1:c.419-1G>A	17.37:g.6946083C>T		Somatic	8	2		WXS	Illumina HiSeq	Phase_I	13	9	NM_153357	0	0	0	0	0		Splice_Site	SNP	ENST00000308009.1	37	CCDS11086.1	.	.	.	.	.	.	.	.	.	.	C	16.08	3.021913	0.54576	.	.	ENSG00000174326	ENST00000308009;ENST00000447225	.	.	.	4.9	4.9	0.64082	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.6075	0.76685	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SLC16A11	6886807	1.000000	0.71417	1.000000	0.80357	0.628000	0.37860	7.058000	0.76676	2.539000	0.85634	0.561000	0.74099	.	.		0.706	SLC16A11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000219921.1	NM_153357	Intron
MYO19	80179	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	34871758	34871758	+	Missense_Mutation	SNP	T	T	C			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr17:34871758T>C	ENST00000431794.3	-	7	1012	c.490A>G	c.(490-492)Att>Gtt	p.I164V	MYO19_ENST00000544606.1_Missense_Mutation_p.I30V|MYO19_ENST00000586007.1_Missense_Mutation_p.I164V|MYO19_ENST00000268852.9_Missense_Mutation_p.I164V	NM_001163735.1	NP_001157207.1	Q96H55	MYO19_HUMAN	myosin XIX	164	Myosin motor.					cytoplasm (GO:0005737)|mitochondrial outer membrane (GO:0005741)|myosin complex (GO:0016459)	ATP binding (GO:0005524)|motor activity (GO:0003774)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|urinary_tract(1)	20		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0185)		CTCTCTGCAATCTTGTGGCTC	0.522																																					p.I164V		.											.	MYO19-23	0			c.A490G						.						78.0	81.0	80.0					17																	34871758		1998	4151	6149	SO:0001583	missense	80179	exon8			CTGCAATCTTGTG	BC008900	CCDS45654.1, CCDS54112.1, CCDS59283.1	17q12	2014-08-12	2007-09-26	2007-09-26	ENSG00000278259	ENSG00000278259		"""Myosins / Myosin superfamily : Class XIX"""	26234	protein-coding gene	gene with protein product			"""myosin head domain containing 1"""	MYOHD1		17877792, 19932026	Standard	NM_001033580		Approved	FLJ22865	uc010wcy.2	Q96H55	OTTHUMG00000188437	ENST00000431794.3:c.490A>G	17.37:g.34871758T>C	ENSP00000409936:p.Ile164Val	Somatic	54	0		WXS	Illumina HiSeq	Phase_I	74	13	NM_001163735	0	0	21	32	11	Q59GS4|Q9H5X2	Missense_Mutation	SNP	ENST00000431794.3	37	CCDS54112.1	.	.	.	.	.	.	.	.	.	.	T	4.263	0.047870	0.08243	.	.	ENSG00000141140	ENST00000431794;ENST00000268852;ENST00000544606	D;D;D	0.87103	-2.21;-2.21;-2.21	5.72	1.64	0.23874	Myosin head, motor domain (2);	0.524811	0.15805	N	0.243761	T	0.68632	0.3022	N	0.02736	-0.51	0.24560	N	0.993978	B;B;B;B	0.15473	0.0;0.0;0.0;0.013	B;B;B;B	0.12837	0.003;0.002;0.0;0.008	T	0.56679	-0.7939	10	0.30078	T	0.28	.	9.161	0.37023	0.0:0.3696:0.0:0.6304	.	30;164;164;164	B4DSL5;Q96H55;Q96H55-2;Q96H55-4	.;MYO19_HUMAN;.;.	V	164;164;30	ENSP00000409936:I164V;ENSP00000268852:I164V;ENSP00000438365:I30V	ENSP00000268852:I164V	I	-	1	0	MYO19	31945871	1.000000	0.71417	1.000000	0.80357	0.930000	0.56654	1.767000	0.38501	0.098000	0.17522	0.383000	0.25322	ATT	.		0.522	MYO19-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451074.1	NM_025109	
DGKE	8526	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	17	54926211	54926211	+	Missense_Mutation	SNP	A	A	G			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr17:54926211A>G	ENST00000284061.3	+	6	1223	c.1043A>G	c.(1042-1044)gAt>gGt	p.D348G		NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN	diacylglycerol kinase, epsilon 64kDa	348	DAGKc. {ECO:0000255|PROSITE- ProRule:PRU00783}.				blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|phospholipid biosynthetic process (GO:0008654)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					ATTAAACTAGATCGGTAAGTT	0.378																																					p.D348G		.											.	DGKE-289	0			c.A1043G						.						118.0	114.0	115.0					17																	54926211		2203	4300	6503	SO:0001583	missense	8526	exon6			AACTAGATCGGTA	U49379	CCDS11590.1	17q22	2008-07-18	2002-08-29			ENSG00000153933	2.7.1.107		2852	protein-coding gene	gene with protein product		601440	"""diacylglycerol kinase, epsilon (64kD)"""			8626589, 10051413	Standard	NM_003647		Approved	DAGK6, DGK	uc002iur.3	P52429		ENST00000284061.3:c.1043A>G	17.37:g.54926211A>G	ENSP00000284061:p.Asp348Gly	Somatic	93	0		WXS	Illumina HiSeq	Phase_I	112	26	NM_003647	0	0	0	0	0	Q8TBM4|Q9UKQ3	Missense_Mutation	SNP	ENST00000284061.3	37	CCDS11590.1	.	.	.	.	.	.	.	.	.	.	A	26.6	4.750777	0.89753	.	.	ENSG00000153933	ENST00000284061	T	0.60672	0.17	5.59	5.59	0.84812	Diacylglycerol kinase, catalytic domain (3);	0.090430	0.85682	D	0.000000	T	0.81692	0.4876	M	0.92880	3.355	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.86463	0.1780	10	0.87932	D	0	.	15.7661	0.78128	1.0:0.0:0.0:0.0	.	348;348	A1L4Q0;P52429	.;DGKE_HUMAN	G	348	ENSP00000284061:D348G	ENSP00000284061:D348G	D	+	2	0	DGKE	52281210	1.000000	0.71417	0.993000	0.49108	0.990000	0.78478	8.532000	0.90613	2.134000	0.65973	0.460000	0.39030	GAT	.		0.378	DGKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440601.1	NM_003647	
SLC14A2	8170	broad.mit.edu	37	18	43262338	43262338	+	Missense_Mutation	SNP	C	C	T			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr18:43262338C>T	ENST00000255226.6	+	20	3433	c.2617C>T	c.(2617-2619)Ctc>Ttc	p.L873F	RP11-116O18.3_ENST00000589510.1_RNA|SLC14A2_ENST00000589658.1_Missense_Mutation_p.L350F|SLC14A2_ENST00000586448.1_Missense_Mutation_p.L873F	NM_007163.3	NP_009094.3	Q15849	UT2_HUMAN	solute carrier family 14 (urea transporter), member 2	873					transmembrane transport (GO:0055085)|urea transport (GO:0015840)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	cell adhesion molecule binding (GO:0050839)|urea transmembrane transporter activity (GO:0015204)			NS(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(8)|lung(35)|ovary(1)|prostate(1)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						CACCTTCCTGCTCCTGACGAC	0.552																																					p.L873F													.	SLC14A2-93	0			c.C2617T						.						303.0	291.0	295.0					18																	43262338		2203	4300	6503	SO:0001583	missense	8170	exon21			TTCCTGCTCCTGA	X96969	CCDS11924.1	18q12.1-q21.1	2013-05-22			ENSG00000132874	ENSG00000132874		"""Solute carriers"""	10919	protein-coding gene	gene with protein product		601611				8647271	Standard	NM_007163		Approved	HUT2, UT2	uc010dnj.3	Q15849	OTTHUMG00000132616	ENST00000255226.6:c.2617C>T	18.37:g.43262338C>T	ENSP00000255226:p.Leu873Phe	Somatic	514	0		WXS	Illumina HiSeq	Phase_I	530	7	NM_001242692	0	0	0	0	0	A8K8Q7|Q2TBD6|Q96PH5	Missense_Mutation	SNP	ENST00000255226.6	37	CCDS11924.1	.	.	.	.	.	.	.	.	.	.	C	18.75	3.691313	0.68271	.	.	ENSG00000132874	ENST00000255226	T	0.57907	0.37	5.26	2.07	0.26955	.	0.132563	0.32055	N	0.006652	T	0.70254	0.3203	M	0.85373	2.75	0.80722	D	1	D	0.76494	0.999	D	0.79784	0.993	T	0.70498	-0.4855	10	0.59425	D	0.04	-26.1111	8.5057	0.33186	0.0:0.6152:0.0:0.3848	.	873	Q15849	UT2_HUMAN	F	873	ENSP00000255226:L873F	ENSP00000255226:L873F	L	+	1	0	SLC14A2	41516336	0.998000	0.40836	1.000000	0.80357	0.995000	0.86356	0.678000	0.25277	0.611000	0.30052	0.561000	0.74099	CTC	.		0.552	SLC14A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255858.1		
STAP2	55620	hgsc.bcm.edu;broad.mit.edu	37	19	4328673	4328673	+	Splice_Site	SNP	C	C	G			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr19:4328673C>G	ENST00000594605.1	-	6	712	c.589G>C	c.(589-591)Ggg>Cgg	p.G197R	STAP2_ENST00000600324.1_Splice_Site_p.G197R|STAP2_ENST00000597593.1_5'Flank	NM_001013841.1	NP_001013863.1	Q9UGK3	STAP2_HUMAN	signal transducing adaptor family member 2	197	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.					cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)	23		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0339)|STAD - Stomach adenocarcinoma(1328;0.18)		CATGCGCACCCGTTGTGCATC	0.726																																					p.G197R		.											.	STAP2-90	0			c.G589C						.						12.0	13.0	12.0					19																	4328673		2187	4277	6464	SO:0001630	splice_region_variant	55620	exon6			CGCACCCGTTGTG	AJ245719	CCDS12128.1, CCDS45926.1	19p13.3	2011-05-03	2007-08-09		ENSG00000178078	ENSG00000178078			30430	protein-coding gene	gene with protein product		607881				10980601, 11441184	Standard	XM_005259592		Approved	STAP-2, BKS	uc002mac.3	Q9UGK3		ENST00000594605.1:c.590+1G>C	19.37:g.4328673C>G		Somatic	19	0		WXS	Illumina HiSeq	Phase_I	23	10	NM_001013841	0	0	0	0	0	A6NKK3|Q9NXI2	Missense_Mutation	SNP	ENST00000594605.1	37	CCDS45926.1	.	.	.	.	.	.	.	.	.	.	C	12.70	2.017070	0.35606	.	.	ENSG00000178078	ENST00000314714;ENST00000424810	.	.	.	4.47	3.42	0.39159	SH2 motif (3);	0.167039	0.37261	N	0.002172	T	0.62196	0.2408	M	0.77103	2.36	0.43160	D	0.99494	B;B	0.28258	0.205;0.119	B;B	0.29176	0.066;0.099	T	0.64605	-0.6368	9	0.87932	D	0	-9.4374	10.5452	0.45056	0.0:0.9014:0.0:0.0986	.	197;197	Q9UGK3-2;Q9UGK3	.;STAP2_HUMAN	R	197	.	ENSP00000317912:G197R	G	-	1	0	STAP2	4279673	0.703000	0.27826	0.790000	0.31976	0.373000	0.29922	1.145000	0.31577	0.866000	0.35629	0.479000	0.44913	GGG	.		0.726	STAP2-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000458114.2	NM_001013841	Missense_Mutation
ACER1	125981	broad.mit.edu	37	19	6312191	6312191	+	Missense_Mutation	SNP	A	A	G			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr19:6312191A>G	ENST00000301452.4	-	3	396	c.319T>C	c.(319-321)Tgc>Cgc	p.C107R		NM_133492.2	NP_597999.1	Q8TDN7	ACER1_HUMAN	alkaline ceramidase 1	107					cell differentiation (GO:0030154)|cellular response to calcium ion (GO:0071277)|ceramide catabolic process (GO:0046514)|epidermis development (GO:0008544)|keratinocyte differentiation (GO:0030216)|regulation of lipid metabolic process (GO:0019216)|response to alkaline pH (GO:0010446)|small molecule metabolic process (GO:0044281)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)|sphingosine biosynthetic process (GO:0046512)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	ceramidase activity (GO:0017040)|dihydroceramidase activity (GO:0071633)			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(4)|pancreas(1)	15						GGGAAATAGCAGCGGGGCATC	0.587																																					p.C107R													.	ACER1-90	0			c.T319C						.						45.0	39.0	41.0					19																	6312191		2203	4300	6503	SO:0001583	missense	125981	exon3			AATAGCAGCGGGG	AF347024	CCDS12161.1	19p13.3	2013-01-25	2008-12-19	2008-12-19	ENSG00000167769	ENSG00000167769	3.5.1.23	"""Alkaline ceramidase"""	18356	protein-coding gene	gene with protein product		613491	"""N-acylsphingosine amidohydrolase (alkaline ceramidase) 3"""	ASAH3		12783875	Standard	NM_133492		Approved		uc002mel.2	Q8TDN7		ENST00000301452.4:c.319T>C	19.37:g.6312191A>G	ENSP00000301452:p.Cys107Arg	Somatic	62	0		WXS	Illumina HiSeq	Phase_I	63	8	NM_133492	0	0	0	0	0		Missense_Mutation	SNP	ENST00000301452.4	37	CCDS12161.1	.	.	.	.	.	.	.	.	.	.	A	8.924	0.961735	0.18583	.	.	ENSG00000167769	ENST00000301452	T	0.39406	1.08	5.13	4.04	0.47022	.	0.457935	0.25555	N	0.029861	T	0.16085	0.0387	N	0.05534	-0.03	0.52099	D	0.999949	B	0.14438	0.01	B	0.15052	0.012	T	0.15578	-1.0432	10	0.05959	T	0.93	-55.431	3.9493	0.09361	0.7184:0.0:0.097:0.1846	.	107	Q8TDN7	ACER1_HUMAN	R	107	ENSP00000301452:C107R	ENSP00000301452:C107R	C	-	1	0	ACER1	6263191	0.998000	0.40836	1.000000	0.80357	0.672000	0.39443	2.111000	0.41883	1.934000	0.56057	0.402000	0.26972	TGC	.		0.587	ACER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452982.1	NM_133492	
HNRNPM	4670	ucsc.edu	37	19	8527467	8527467	+	Splice_Site	SNP	T	T	G			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr19:8527467T>G	ENST00000325495.4	+	3	377		c.e3+2		HNRNPM_ENST00000348943.3_Splice_Site	NM_005968.4	NP_005959.2	P52272	HNRPM_HUMAN	heterogeneous nuclear ribonucleoprotein M						alternative mRNA splicing, via spliceosome (GO:0000380)|gene expression (GO:0010467)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|paraspeckles (GO:0042382)|spliceosomal complex (GO:0005681)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|protein domain specific binding (GO:0019904)|RNA binding (GO:0003723)			endometrium(5)|kidney(2)|large_intestine(7)|lung(10)|ovary(1)	25						AAGTCAAGGGTAAGTGTCTGA	0.428																																					.													.	HNRNPM-68	0			c.336+2T>G						.						241.0	220.0	227.0					19																	8527467		2203	4300	6503	SO:0001630	splice_region_variant	4670	exon3			CAAGGGTAAGTGT	L03532	CCDS12203.1, CCDS12204.1	19p13.2	2013-06-12		2008-04-18	ENSG00000099783	ENSG00000099783		"""RNA binding motif (RRM) containing"""	5046	protein-coding gene	gene with protein product	"""CEA receptor"""	160994		NAGR1, HNRPM		8441656, 7558047	Standard	NM_005968		Approved	HTGR1, HNRNPM4, HNRPM4, CEAR	uc010dwe.3	P52272	OTTHUMG00000182383	ENST00000325495.4:c.336+2T>G	19.37:g.8527467T>G		Somatic	150	0		WXS	Illumina HiSeq		132	1	NM_031203	0	0	0	0	0	Q15584|Q8WZ44|Q96H56|Q9BWL9|Q9Y492	Splice_Site	SNP	ENST00000325495.4	37	CCDS12203.1	.	.	.	.	.	.	.	.	.	.	T	18.24	3.580056	0.65992	.	.	ENSG00000099783	ENST00000325495;ENST00000348943	.	.	.	5.82	5.82	0.92795	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0018	0.71479	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	HNRNPM	8433467	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.698000	0.84413	2.225000	0.72522	0.459000	0.35465	.	.		0.428	HNRNPM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460894.1		Intron
KIF5C	3800	ucsc.edu	37	2	149799207	149799207	+	Silent	SNP	G	G	A			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr2:149799207G>A	ENST00000435030.1	+	7	890	c.522G>A	c.(520-522)gtG>gtA	p.V174V	KIF5C_ENST00000414838.2_Silent_p.V79V			O60282	KIF5C_HUMAN	kinesin family member 5C	174	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.|Microtubule-binding.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mRNA transport (GO:0051028)|organelle organization (GO:0006996)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		AGCGGTTTGTGTCGAGCCCTG	0.478																																					p.V174V													.	KIF5C-69	0			c.G522A						.						75.0	74.0	74.0					2																	149799207		1971	4149	6120	SO:0001819	synonymous_variant	3800	exon7			GTTTGTGTCGAGC	AB011103	CCDS74586.1	2q23	2008-02-05			ENSG00000168280	ENSG00000168280		"""Kinesins"""	6325	protein-coding gene	gene with protein product		604593				7514426	Standard	NM_004522		Approved		uc010zbu.2	O60282	OTTHUMG00000153779	ENST00000435030.1:c.522G>A	2.37:g.149799207G>A		Somatic	25	0		WXS	Illumina HiSeq		36	4	NM_004522	0	0	0	0	0	O95079|Q2YDC5	Silent	SNP	ENST00000435030.1	37																																																																																				.		0.478	KIF5C-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000332562.3	NM_004522	
DIS3L2	129563	hgsc.bcm.edu	37	2	233199380	233199380	+	Missense_Mutation	SNP	A	A	G	rs201503361	byFrequency	TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr2:233199380A>G	ENST00000409307.1	+	18	2329	c.2329A>G	c.(2329-2331)Atc>Gtc	p.I777V	DIS3L2_ENST00000273009.6_Intron|DIS3L2_ENST00000325385.7_Missense_Mutation_p.I777V					DIS3 like 3'-5' exoribonuclease 2											breast(2)|central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(18)|ovary(1)|prostate(2)|urinary_tract(1)	40		all_hematologic(139;0.00809)|Renal(207;0.0113)|Acute lymphoblastic leukemia(138;0.0195)|all_lung(227;0.0465)|Lung NSC(271;0.136)		Epithelial(121;1.6e-13)|BRCA - Breast invasive adenocarcinoma(100;0.00104)|LUSC - Lung squamous cell carcinoma(224;0.0109)|Lung(119;0.0149)		GGTGATGGGCATCCTGAAGCA	0.667																																					p.I777V		.											.	DIS3L2-136	0			c.A2329G						.						54.0	62.0	59.0					2																	233199380		2178	4269	6447	SO:0001583	missense	129563	exon19			ATGGGCATCCTGA	BC026166	CCDS42834.1, CCDS58752.1, CCDS58753.1	2q37.1	2014-09-17	2014-03-05		ENSG00000144535	ENSG00000144535			28648	protein-coding gene	gene with protein product		614184	"""family with sequence similarity 6, member A"", ""DIS3 mitotic control homolog (S. cerevisiae)-like 2"""	FAM6A		22306653, 23503588	Standard	NM_152383		Approved	FLJ36974, MGC42174	uc010fxz.3	Q8IYB7	OTTHUMG00000153385	ENST00000409307.1:c.2329A>G	2.37:g.233199380A>G	ENSP00000386799:p.Ile777Val	Somatic	8	2		WXS	Illumina HiSeq	Phase_I	26	6	NM_152383	0	0	51	51	0		Missense_Mutation	SNP	ENST00000409307.1	37	CCDS42834.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	g|g	6.460|6.460	0.453001|0.453001	0.12283|0.12283	.|.	.|.	ENSG00000144535|ENSG00000144535	ENST00000418143|ENST00000325385;ENST00000409307	.|T;T	.|0.18338	.|2.22;2.22	4.06|4.06	3.15|3.15	0.36227|0.36227	.|.	.|0.000000	.|0.64402	.|N	.|0.000007	T|T	0.03305|0.03305	0.0096|0.0096	N|N	0.00313|0.00313	-1.665|-1.665	0.80722|0.80722	D|D	1|1	.|B	.|0.02656	.|0.0	.|B	.|0.04013	.|0.001	T|T	0.37820|0.37820	-0.9689|-0.9689	5|10	.|0.02654	.|T	.|1	-12.3444|-12.3444	9.5561|9.5561	0.39339|0.39339	0.177:0.0:0.823:0.0|0.177:0.0:0.823:0.0	.|.	.|777	.|Q8IYB7	.|DI3L2_HUMAN	R|V	4|777	.|ENSP00000315569:I777V;ENSP00000386799:I777V	.|ENSP00000315569:I777V	H|I	+|+	2|1	0|0	DIS3L2|DIS3L2	232907624|232907624	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.962000|0.962000	0.63368|0.63368	4.545000|4.545000	0.60698|0.60698	0.856000|0.856000	0.35383|0.35383	-0.235000|-0.235000	0.12190|0.12190	CAT|ATC	.		0.667	DIS3L2-015	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000330988.1	NM_152383	
ALPI	248	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	2	233322816	233322816	+	Missense_Mutation	SNP	C	C	T			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr2:233322816C>T	ENST00000295463.3	+	8	1042	c.965C>T	c.(964-966)cCc>cTc	p.P322L		NM_001631.3	NP_001622.2	P09923	PPBI_HUMAN	alkaline phosphatase, intestinal	322					dephosphorylation (GO:0016311)	anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|magnesium ion binding (GO:0000287)|protease binding (GO:0002020)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(2)|lung(10)|prostate(2)|upper_aerodigestive_tract(1)	24		all_hematologic(139;0.00793)|Renal(207;0.0112)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0449)|Lung NSC(271;0.132)		Epithelial(121;1.64e-16)|Kidney(3;9.71e-08)|KIRC - Kidney renal clear cell carcinoma(3;2.74e-06)|BRCA - Breast invasive adenocarcinoma(100;0.000763)|Lung(119;0.00564)|LUSC - Lung squamous cell carcinoma(224;0.00746)		AGCAGGAACCCCCGCGGCTTC	0.662																																					p.P322L		.											.	ALPI-90	0			c.C965T						.						58.0	65.0	63.0					2																	233322816		2203	4300	6503	SO:0001583	missense	248	exon8			GGAACCCCCGCGG	M15694	CCDS2492.1	2q37.1	2008-02-05			ENSG00000163295	ENSG00000163295	3.1.3.1		437	protein-coding gene	gene with protein product		171740				3468508, 3469665	Standard	NM_001631		Approved		uc002vst.4	P09923	OTTHUMG00000133258	ENST00000295463.3:c.965C>T	2.37:g.233322816C>T	ENSP00000295463:p.Pro322Leu	Somatic	105	0		WXS	Illumina HiSeq	Phase_I	108	26	NM_001631	0	0	0	1	1	B2R7Y4|Q53S80|Q9UBV5|Q9UCL2	Missense_Mutation	SNP	ENST00000295463.3	37	CCDS2492.1	.	.	.	.	.	.	.	.	.	.	C	13.56	2.273284	0.40194	.	.	ENSG00000163295	ENST00000295463	D	0.96300	-3.97	4.46	4.46	0.54185	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.106561	0.64402	D	0.000003	D	0.97238	0.9097	M	0.93328	3.405	0.58432	D	0.999999	P	0.38223	0.623	B	0.40741	0.339	D	0.98720	1.0708	10	0.62326	D	0.03	.	16.2794	0.82664	0.0:1.0:0.0:0.0	.	322	P09923	PPBI_HUMAN	L	322	ENSP00000295463:P322L	ENSP00000295463:P322L	P	+	2	0	ALPI	233031060	1.000000	0.71417	0.784000	0.31847	0.009000	0.06853	7.289000	0.78701	2.318000	0.78349	0.561000	0.74099	CCC	.		0.662	ALPI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257035.2	NM_001631	
PPP1R16B	26051	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	20	37536822	37536822	+	Nonsense_Mutation	SNP	G	G	T			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr20:37536822G>T	ENST00000299824.1	+	10	1369	c.1180G>T	c.(1180-1182)Gag>Tag	p.E394*	PPP1R16B_ENST00000373331.2_Nonsense_Mutation_p.E352*	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	394					regulation of filopodium assembly (GO:0051489)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				GACAGACCAAGAGAATAAGGA	0.607																																					p.E394X		.											.	PPP1R16B-228	0			c.G1180T						.						88.0	81.0	84.0					20																	37536822		2203	4300	6503	SO:0001587	stop_gained	26051	exon10			GACCAAGAGAATA	AB020630	CCDS13309.1, CCDS54462.1	20q11.23	2013-01-10	2011-10-04		ENSG00000101445	ENSG00000101445		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	15850	protein-coding gene	gene with protein product	"""TGF-beta-inhibited membrane-associated protein"", ""ankyrin repeat domain protein 4"""	613275	"""protein phosphatase 1, regulatory (inhibitor) subunit 16B"""			10048485, 12055102	Standard	NM_001172735		Approved	KIAA0823, TIMAP, ANKRD4	uc002xje.3	Q96T49	OTTHUMG00000032465	ENST00000299824.1:c.1180G>T	20.37:g.37536822G>T	ENSP00000299824:p.Glu394*	Somatic	49	0		WXS	Illumina HiSeq	Phase_I	84	14	NM_015568	0	0	0	0	0	A2RRR6|E9PFS8|O94912|Q5W9G4|Q9NQG4	Nonsense_Mutation	SNP	ENST00000299824.1	37	CCDS13309.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	39|39	7.556183|7.556183	0.98355|0.98355	.|.	.|.	ENSG00000101445|ENSG00000101445	ENST00000299824;ENST00000373331|ENST00000438192	.|.	.|.	.|.	5.79|5.79	5.79|5.79	0.91817|0.91817	.|.	0.154659|.	0.56097|.	D|.	0.000027|.	.|T	.|0.71341	.|0.3328	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.68953	.|-0.5273	.|4	0.34782|.	T|.	0.22|.	.|.	14.8843|14.8843	0.70555|0.70555	0.0:0.0:0.8566:0.1433|0.0:0.0:0.8566:0.1433	.|.	.|.	.|.	.|.	X|N	394;352|294	.|.	ENSP00000299824:E394X|.	E|K	+|+	1|3	0|2	PPP1R16B|PPP1R16B	36970236|36970236	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	6.369000|6.369000	0.73109|0.73109	2.771000|2.771000	0.95319|0.95319	0.644000|0.644000	0.83932|0.83932	GAG|AAG	.		0.607	PPP1R16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079220.2	NM_015568	
PPP1R16B	26051	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	20	37536828	37536828	+	Missense_Mutation	SNP	A	A	G			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr20:37536828A>G	ENST00000299824.1	+	10	1375	c.1186A>G	c.(1186-1188)Aag>Gag	p.K396E	PPP1R16B_ENST00000373331.2_Missense_Mutation_p.K354E	NM_015568.2	NP_056383.1	Q96T49	PP16B_HUMAN	protein phosphatase 1, regulatory subunit 16B	396					regulation of filopodium assembly (GO:0051489)|signal transduction (GO:0007165)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein phosphatase binding (GO:0019903)			biliary_tract(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(23)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)	49		Myeloproliferative disorder(115;0.00878)				CCAAGAGAATAAGGACCCTGT	0.607																																					p.K396E		.											.	PPP1R16B-228	0			c.A1186G						.						82.0	77.0	79.0					20																	37536828		2203	4300	6503	SO:0001583	missense	26051	exon10			GAGAATAAGGACC	AB020630	CCDS13309.1, CCDS54462.1	20q11.23	2013-01-10	2011-10-04		ENSG00000101445	ENSG00000101445		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	15850	protein-coding gene	gene with protein product	"""TGF-beta-inhibited membrane-associated protein"", ""ankyrin repeat domain protein 4"""	613275	"""protein phosphatase 1, regulatory (inhibitor) subunit 16B"""			10048485, 12055102	Standard	NM_001172735		Approved	KIAA0823, TIMAP, ANKRD4	uc002xje.3	Q96T49	OTTHUMG00000032465	ENST00000299824.1:c.1186A>G	20.37:g.37536828A>G	ENSP00000299824:p.Lys396Glu	Somatic	43	0		WXS	Illumina HiSeq	Phase_I	73	12	NM_015568	0	0	0	0	0	A2RRR6|E9PFS8|O94912|Q5W9G4|Q9NQG4	Missense_Mutation	SNP	ENST00000299824.1	37	CCDS13309.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.38|13.38	2.219266|2.219266	0.39201|0.39201	.|.	.|.	ENSG00000101445|ENSG00000101445	ENST00000438192|ENST00000299824;ENST00000373331	.|T;T	.|0.70869	.|-0.31;-0.52	5.79|5.79	4.7|4.7	0.59300|0.59300	.|.	.|0.210830	.|0.50627	.|D	.|0.000114	T|T	0.54806|0.54806	0.1881|0.1881	L|L	0.36672|0.36672	1.1|1.1	0.25150|0.25150	N|N	0.990439|0.990439	.|B;B	.|0.19445	.|0.017;0.036	.|B;B	.|0.20767	.|0.007;0.031	T|T	0.36163|0.36163	-0.9759|-0.9759	5|10	.|0.07990	.|T	.|0.79	.|.	9.383|9.383	0.38325|0.38325	0.8649:0.0:0.1351:0.0|0.8649:0.0:0.1351:0.0	.|.	.|354;396	.|E9PFS8;Q96T49	.|.;PP16B_HUMAN	M|E	296|396;354	.|ENSP00000299824:K396E;ENSP00000362428:K354E	.|ENSP00000299824:K396E	I|K	+|+	3|1	3|0	PPP1R16B|PPP1R16B	36970242|36970242	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.946000|0.946000	0.59487|0.59487	4.056000|4.056000	0.57448|0.57448	2.236000|2.236000	0.73375|0.73375	0.524000|0.524000	0.50904|0.50904	ATA|AAG	.		0.607	PPP1R16B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079220.2	NM_015568	
ADA	100	broad.mit.edu;bcgsc.ca	37	20	43264929	43264929	+	Splice_Site	SNP	C	C	T			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr20:43264929C>T	ENST00000372874.4	-	2	168	c.34G>A	c.(34-36)Gtg>Atg	p.V12M	ADA_ENST00000537820.1_Splice_Site_p.V12M	NM_000022.2	NP_000013.2	P00813	ADA_HUMAN	adenosine deaminase	12					adenosine catabolic process (GO:0006154)|aging (GO:0007568)|cell adhesion (GO:0007155)|dATP catabolic process (GO:0046061)|deoxyadenosine catabolic process (GO:0006157)|embryonic digestive tract development (GO:0048566)|germinal center B cell differentiation (GO:0002314)|histamine secretion (GO:0001821)|hypoxanthine salvage (GO:0043103)|inosine biosynthetic process (GO:0046103)|liver development (GO:0001889)|lung alveolus development (GO:0048286)|negative regulation of adenosine receptor signaling pathway (GO:0060169)|negative regulation of circadian sleep/wake cycle, non-REM sleep (GO:0042323)|negative regulation of inflammatory response (GO:0050728)|negative regulation of leukocyte migration (GO:0002686)|negative regulation of mature B cell apoptotic process (GO:0002906)|negative regulation of mucus secretion (GO:0070256)|negative regulation of penile erection (GO:0060407)|negative regulation of thymocyte apoptotic process (GO:0070244)|nucleobase-containing small molecule metabolic process (GO:0055086)|Peyer's patch development (GO:0048541)|placenta development (GO:0001890)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of germinal center formation (GO:0002636)|positive regulation of heart rate (GO:0010460)|positive regulation of smooth muscle contraction (GO:0045987)|positive regulation of T cell differentiation in thymus (GO:0033089)|positive regulation of T cell receptor signaling pathway (GO:0050862)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide salvage (GO:0032261)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|purine-containing compound salvage (GO:0043101)|regulation of cell-cell adhesion mediated by integrin (GO:0033632)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|response to morphine (GO:0043278)|response to vitamin E (GO:0033197)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|trophectodermal cell differentiation (GO:0001829)|xanthine biosynthetic process (GO:0046111)	cell junction (GO:0030054)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|lysosome (GO:0005764)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	adenosine deaminase activity (GO:0004000)|purine nucleoside binding (GO:0001883)|zinc ion binding (GO:0008270)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(3)|ovary(1)|pancreas(2)|prostate(3)|skin(2)|urinary_tract(1)	18		all_lung(126;1.24e-07)|Lung NSC(126;1.94e-07)|Myeloproliferative disorder(115;0.0122)	COAD - Colon adenocarcinoma(18;0.00189)		Adenosine(DB00640)|Dipyridamole(DB00975)|Edetic Acid(DB00974)|Nelarabine(DB01280)|Pentostatin(DB00552)|Theophylline(DB00277)|Vidarabine(DB00194)	TGCAGTTCCACCTGCAAGGGG	0.473									Adenosine Deaminase Deficiency																												p.V12M													.	ADA-653	0			c.G34A						.						59.0	48.0	52.0					20																	43264929		2203	4300	6503	SO:0001630	splice_region_variant	100	exon2	Familial Cancer Database	Severe Combined Immunodeficiency (SCID) due to ADA-deficiency	GTTCCACCTGCAA	X02994	CCDS13335.1	20q13.12	2014-09-17			ENSG00000196839	ENSG00000196839	3.5.4.4		186	protein-coding gene	gene with protein product		608958				6198240, 6090454	Standard	NM_000022		Approved		uc002xmj.3	P00813	OTTHUMG00000033081	ENST00000372874.4:c.34-1G>A	20.37:g.43264929C>T		Somatic	32	0		WXS	Illumina HiSeq	Phase_I	24	5	NM_000022	0	0	0	0	0	Q53F92|Q6LA59	Missense_Mutation	SNP	ENST00000372874.4	37	CCDS13335.1	.	.	.	.	.	.	.	.	.	.	C	18.13	3.555611	0.65425	.	.	ENSG00000196839	ENST00000372874;ENST00000537820	D;D	0.96459	-4.02;-4.02	5.93	5.93	0.95920	Adenosine/AMP deaminase (1);	0.000000	0.85682	D	0.000000	D	0.98375	0.9460	M	0.86573	2.825	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.98920	1.0783	10	0.72032	D	0.01	-34.6306	18.5243	0.90965	0.0:1.0:0.0:0.0	.	12	P00813	ADA_HUMAN	M	12	ENSP00000361965:V12M;ENSP00000441818:V12M	ENSP00000361965:V12M	V	-	1	0	ADA	42698343	1.000000	0.71417	0.996000	0.52242	0.112000	0.19704	5.987000	0.70571	2.815000	0.96918	0.561000	0.74099	GTG	.		0.473	ADA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080509.2	NM_000022	Missense_Mutation
APOL6	80830	hgsc.bcm.edu	37	22	36055619	36055619	+	Silent	SNP	C	C	G			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr22:36055619C>G	ENST00000409652.4	+	3	1284	c.1008C>G	c.(1006-1008)gtC>gtG	p.V336V		NM_030641.3	NP_085144.1	Q9BWW8	APOL6_HUMAN	apolipoprotein L, 6	336					lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	lipid binding (GO:0008289)			haematopoietic_and_lymphoid_tissue(1)|lung(4)	5						gtctgtgtgtctgtgtgtatg	0.483																																					p.V336V		.											.	APOL6-90	0			c.C1008G						.						94.0	61.0	72.0					22																	36055619		2203	4300	6503	SO:0001819	synonymous_variant	80830	exon3			GTGTGTCTGTGTG	AY014879	CCDS13919.1	22q12.3	2013-01-24			ENSG00000221963	ENSG00000221963		"""Apolipoproteins"""	14870	protein-coding gene	gene with protein product		607256				11374903, 15671246	Standard	NM_030641		Approved	APOL-VI, APOLVI	uc003aoe.3	Q9BWW8	OTTHUMG00000150615	ENST00000409652.4:c.1008C>G	22.37:g.36055619C>G		Somatic	27	0		WXS	Illumina HiSeq	Phase_I	32	3	NM_030641	0	0	11	11	0	Q5R3S1|Q658J1|Q8IXX6|Q9UGG1	Silent	SNP	ENST00000409652.4	37	CCDS13919.1																																																																																			.		0.483	APOL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319081.2	NM_030641	
MICALL1	85377	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	22	38313744	38313744	+	Missense_Mutation	SNP	C	C	T			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr22:38313744C>T	ENST00000215957.6	+	4	494	c.368C>T	c.(367-369)gCa>gTa	p.A123V		NM_033386.3	NP_203744.1	Q8N3F8	MILK1_HUMAN	MICAL-like 1	123					endocytosis (GO:0006897)|membrane tubulation (GO:0097320)|neuron projection development (GO:0031175)|protein localization to endosome (GO:0036010)|protein targeting to membrane (GO:0006612)|receptor-mediated endocytosis (GO:0006898)|retrograde transport, endosome to plasma membrane (GO:1990126)|slow endocytic recycling (GO:0032458)	extrinsic component of membrane (GO:0019898)|late endosome (GO:0005770)|recycling endosome membrane (GO:0055038)	identical protein binding (GO:0042802)|phosphatidic acid binding (GO:0070300)|Rab GTPase binding (GO:0017137)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	24	Melanoma(58;0.045)					AAGGGCCTTGCACCCTGTTCC	0.622																																					p.A123V		.											.	MICALL1-153	0			c.C368T						.						80.0	66.0	71.0					22																	38313744		2203	4300	6503	SO:0001583	missense	85377	exon4			GCCTTGCACCCTG	BK000466	CCDS13961.1	22q13.1	2006-11-24			ENSG00000100139	ENSG00000100139			29804	protein-coding gene	gene with protein product	"""molecule interacting with Rab13"""					11258795, 12110185	Standard	NM_033386		Approved	MIRAB13, KIAA1668, MICAL-L1	uc003aui.3	Q8N3F8	OTTHUMG00000150670	ENST00000215957.6:c.368C>T	22.37:g.38313744C>T	ENSP00000215957:p.Ala123Val	Somatic	110	0		WXS	Illumina HiSeq	Phase_I	117	28	NM_033386	0	0	13	22	9	Q5TI16|Q7RTP5|Q8N3N8|Q9BVL9|Q9BY92|Q9UH43|Q9UH44|Q9UH45	Missense_Mutation	SNP	ENST00000215957.6	37	CCDS13961.1	.	.	.	.	.	.	.	.	.	.	C	13.00	2.105894	0.37145	.	.	ENSG00000100139	ENST00000445494;ENST00000215957	T;T	0.73363	-0.74;0.52	3.8	2.78	0.32641	.	0.408833	0.20490	N	0.091317	T	0.55986	0.1955	N	0.19112	0.55	0.19775	N	0.999952	B	0.06786	0.001	B	0.06405	0.002	T	0.48833	-0.9000	10	0.48119	T	0.1	.	7.2373	0.26077	0.0:0.8793:0.0:0.1207	.	123	Q8N3F8	MILK1_HUMAN	V	39;123	ENSP00000404543:A39V;ENSP00000215957:A123V	ENSP00000215957:A123V	A	+	2	0	MICALL1	36643690	0.000000	0.05858	0.005000	0.12908	0.609000	0.37215	0.091000	0.15046	1.176000	0.42840	0.455000	0.32223	GCA	.		0.622	MICALL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319545.4	NM_033386	
SCAP	22937	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	47455522	47455522	+	Missense_Mutation	SNP	C	C	A			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr3:47455522C>A	ENST00000265565.5	-	23	4074	c.3662G>T	c.(3661-3663)tGt>tTt	p.C1221F	SCAP_ENST00000545718.1_Missense_Mutation_p.C828F|SCAP_ENST00000441517.2_Missense_Mutation_p.C965F	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone	1221	Interaction with SREBF2. {ECO:0000250}.				aging (GO:0007568)|cholesterol metabolic process (GO:0008203)|negative regulation of cholesterol biosynthetic process (GO:0045541)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of fatty acid biosynthetic process (GO:0042304)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		AAAGGAGACACAGCCCTGGCC	0.592																																					p.C1221F	Pancreas(149;978 1908 29304 37806 46700)	.											.	SCAP-91	0			c.G3662T						.						75.0	80.0	78.0					3																	47455522		2203	4300	6503	SO:0001583	missense	22937	exon23			GAGACACAGCCCT	BC020987	CCDS2755.2	3p21.31	2013-01-10			ENSG00000114650	ENSG00000114650		"""WD repeat domain containing"""	30634	protein-coding gene	gene with protein product	"""SREBP cleavage activating protein"""	601510				8898195, 8724849, 10570913	Standard	XM_005264967		Approved	KIAA0199	uc003crh.1	Q12770	OTTHUMG00000125539	ENST00000265565.5:c.3662G>T	3.37:g.47455522C>A	ENSP00000265565:p.Cys1221Phe	Somatic	127	1		WXS	Illumina HiSeq	Phase_I	163	68	NM_012235	1	0	79	205	125	Q8N2E0|Q8WUA1	Missense_Mutation	SNP	ENST00000265565.5	37	CCDS2755.2	.	.	.	.	.	.	.	.	.	.	C	25.1	4.604754	0.87157	.	.	ENSG00000114650	ENST00000339815;ENST00000360832;ENST00000265565;ENST00000441517;ENST00000545718	T;T;T	0.39229	1.63;2.27;1.09	5.2	5.2	0.72013	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	T	0.54127	0.1839	L	0.29908	0.895	0.80722	D	1	D;D	0.76494	0.999;0.997	D;D	0.71656	0.974;0.929	T	0.56932	-0.7897	10	0.72032	D	0.01	-12.5147	18.531	0.90992	0.0:1.0:0.0:0.0	.	965;1221	F8W921;Q12770	.;SCAP_HUMAN	F	713;847;1221;965;828	ENSP00000265565:C1221F;ENSP00000416847:C965F;ENSP00000438956:C828F	ENSP00000265565:C1221F	C	-	2	0	SCAP	47430526	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.296000	0.78790	2.706000	0.92434	0.655000	0.94253	TGT	.		0.592	SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246872.2	NM_012235	
PLXNB1	5364	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	48459373	48459373	+	Silent	SNP	C	C	A			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr3:48459373C>A	ENST00000358536.4	-	16	3590	c.3321G>T	c.(3319-3321)acG>acT	p.T1107T	PLXNB1_ENST00000448774.2_Intron|PLXNB1_ENST00000358459.4_Silent_p.T924T|PLXNB1_ENST00000296440.6_Silent_p.T1107T|PLXNB1_ENST00000456774.1_Silent_p.T924T|PLXNB1_ENST00000465117.1_5'Flank	NM_002673.4	NP_002664.2	O43157	PLXB1_HUMAN	plexin B1	1107	IPT/TIG 1.				axon guidance (GO:0007411)|cell migration (GO:0016477)|intracellular signal transduction (GO:0035556)|negative regulation of cell adhesion (GO:0007162)|negative regulation of osteoblast proliferation (GO:0033689)|neuron projection morphogenesis (GO:0048812)|ossification involved in bone maturation (GO:0043931)|positive regulation of axonogenesis (GO:0050772)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of cell shape (GO:0008360)|regulation of cytoskeleton organization (GO:0051493)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in bone trabecula morphogenesis (GO:1900220)|signal transduction (GO:0007165)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	GTPase activating protein binding (GO:0032794)|receptor activity (GO:0004872)|semaphorin receptor activity (GO:0017154)|semaphorin receptor binding (GO:0030215)|transmembrane signaling receptor activity (GO:0004888)			NS(1)|breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(10)|ovary(3)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	47				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CTCCAGCCACCGTGACCATGC	0.662																																					p.T1107T		.											.	PLXNB1-293	0			c.G3321T						.						60.0	58.0	59.0					3																	48459373		2203	4300	6503	SO:0001819	synonymous_variant	5364	exon16			AGCCACCGTGACC	X87904	CCDS2765.1	3p21.31	2008-07-18			ENSG00000164050	ENSG00000164050		"""Plexins"""	9103	protein-coding gene	gene with protein product		601053		PLXN5		8570614, 11035813	Standard	XM_005265234		Approved	SEP, KIAA0407	uc003csw.2	O43157	OTTHUMG00000133527	ENST00000358536.4:c.3321G>T	3.37:g.48459373C>A		Somatic	87	0		WXS	Illumina HiSeq	Phase_I	94	20	NM_001130082	0	0	87	131	44	A6H8Y2|Q6NY20|Q9UIV7|Q9UJ92|Q9UJ93	Silent	SNP	ENST00000358536.4	37	CCDS2765.1																																																																																			.		0.662	PLXNB1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344454.1	NM_002673	
NDUFAF3	25915	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	49059877	49059877	+	Missense_Mutation	SNP	A	A	T			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr3:49059877A>T	ENST00000326925.6	+	2	1310	c.176A>T	c.(175-177)tAc>tTc	p.Y59F	NDUFAF3_ENST00000451378.2_Missense_Mutation_p.Y2F|DALRD3_ENST00000313778.5_5'Flank|MIR191_ENST00000384873.1_RNA|DALRD3_ENST00000440857.1_5'Flank|NDUFAF3_ENST00000326912.4_Missense_Mutation_p.Y2F|NDUFAF3_ENST00000395458.2_Missense_Mutation_p.Y2F|MIR425_ENST00000362162.1_RNA|DALRD3_ENST00000496568.1_5'Flank	NM_199069.1	NP_951032.1	Q9BU61	NDUF3_HUMAN	NADH dehydrogenase (ubiquinone) complex I, assembly factor 3	59					mitochondrial respiratory chain complex I assembly (GO:0032981)	mitochondrial inner membrane (GO:0005743)|nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(1)|lung(4)	8						CAGGCAATGTACATCGACAGC	0.652																																					p.Y59F		.											.	NDUFAF3-90	0			c.A176T						.						23.0	24.0	23.0					3																	49059877		2200	4299	6499	SO:0001583	missense	25915	exon2			CAATGTACATCGA		CCDS2784.1, CCDS2785.1	3p21.31	2012-10-12	2012-05-08	2009-03-18	ENSG00000178057	ENSG00000178057		"""Mitochondrial respiratory chain complex assembly factors"""	29918	protein-coding gene	gene with protein product		612911	"""chromosome 3 open reading frame 60"", ""NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, assembly factor 3"""	C3orf60		12653254, 9349717	Standard	NM_199069		Approved	MGC10527, DKFZP564J0123, E3-3, 2P1	uc003cvq.3	Q9BU61	OTTHUMG00000156773	ENST00000326925.6:c.176A>T	3.37:g.49059877A>T	ENSP00000323076:p.Tyr59Phe	Somatic	66	0		WXS	Illumina HiSeq	Phase_I	106	23	NM_199069	2	0	295	422	125		Missense_Mutation	SNP	ENST00000326925.6	37	CCDS2784.1	.	.	.	.	.	.	.	.	.	.	A	15.90	2.970503	0.53614	.	.	ENSG00000178057	ENST00000326912;ENST00000326925;ENST00000395458;ENST00000451378	D;D;D;D	0.85629	-2.01;-2.01;-2.01;-2.01	5.29	2.73	0.32206	.	0.264355	0.36665	N	0.002471	T	0.70885	0.3275	L	0.33485	1.01	0.31716	N	0.638898	B	0.02656	0.0	B	0.06405	0.002	T	0.58493	-0.7627	10	0.11182	T	0.66	-8.5232	4.4326	0.11535	0.598:0.0:0.09:0.312	.	59	Q9BU61	NDUF3_HUMAN	F	2;59;2;2	ENSP00000323003:Y2F;ENSP00000323076:Y59F;ENSP00000378843:Y2F;ENSP00000402465:Y2F	ENSP00000323003:Y2F	Y	+	2	0	NDUFAF3	49034881	1.000000	0.71417	0.997000	0.53966	0.638000	0.38207	4.002000	0.57053	0.833000	0.34828	0.533000	0.62120	TAC	.		0.652	NDUFAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345683.2	NM_199069	
DNAH1	25981	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	52432935	52432935	+	Silent	SNP	A	A	G			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr3:52432935A>G	ENST00000420323.2	+	76	12420	c.12159A>G	c.(12157-12159)gtA>gtG	p.V4053V		NM_015512.4	NP_056327	Q9P2D7	DYH1_HUMAN	dynein, axonemal, heavy chain 1	4118					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|response to mechanical stimulus (GO:0009612)	axonemal dynein complex (GO:0005858)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			cervix(2)|endometrium(18)|kidney(6)|large_intestine(3)|lung(31)|prostate(1)|urinary_tract(1)	62				BRCA - Breast invasive adenocarcinoma(193;2.02e-05)|OV - Ovarian serous cystadenocarcinoma(275;0.000207)|Kidney(197;0.0022)|KIRC - Kidney renal clear cell carcinoma(197;0.00245)		AGGGGCTGGTAGTGATGTCCT	0.552																																					p.V4053V		.											.	DNAH1-67	0			c.A12159G						.						48.0	54.0	52.0					3																	52432935		2092	4227	6319	SO:0001819	synonymous_variant	25981	exon76			GCTGGTAGTGATG	U61738	CCDS46842.1	3p21-p14	2008-02-05	2006-09-04		ENSG00000114841	ENSG00000114841		"""Axonemal dyneins"""	2940	protein-coding gene	gene with protein product		603332	"""dynein, axonemal, heavy polypeptide 1"""			8812413, 9256245	Standard	NM_015512		Approved	XLHSRF-1, DNAHC1, HDHC7, HL-11, HL11	uc011bef.2	Q9P2D7	OTTHUMG00000158378	ENST00000420323.2:c.12159A>G	3.37:g.52432935A>G		Somatic	36	0		WXS	Illumina HiSeq	Phase_I	49	11	NM_015512	0	0	5	7	2	B0I1R6|O00436|O15435|O95491|Q6ZU48|Q86YK7|Q8TEJ4|Q92863|Q9H8E6|Q9UFW6|Q9Y4Z7	Silent	SNP	ENST00000420323.2	37	CCDS46842.1																																																																																			.		0.552	DNAH1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350816.1	NM_015512	
HRG	3273	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	3	186383957	186383957	+	Missense_Mutation	SNP	A	A	T			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr3:186383957A>T	ENST00000232003.4	+	1	217	c.137A>T	c.(136-138)tAc>tTc	p.Y46F	RP11-134F2.2_ENST00000428501.1_RNA|HRG_ENST00000468154.1_3'UTR|RP11-134F2.2_ENST00000455926.1_RNA	NM_000412.2	NP_000403.1	P04196	HRG_HUMAN	histidine-rich glycoprotein	46	Cystatin 1.|Interaction with ATP5A1.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|chemotaxis (GO:0006935)|defense response to fungus (GO:0050832)|fibrinolysis (GO:0042730)|heme export (GO:0097037)|negative regulation of angiogenesis (GO:0016525)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of fibrinolysis (GO:0051918)|negative regulation of lamellipodium assembly (GO:0010593)|negative regulation of vascular endothelial growth factor signaling pathway (GO:1900747)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of apoptotic process (GO:0043065)|positive regulation of blood vessel remodeling (GO:2000504)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of immune response to tumor cell (GO:0002839)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of blood coagulation (GO:0030193)|regulation of gene expression (GO:0010468)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|regulation of platelet activation (GO:0010543)|regulation of protein complex assembly (GO:0043254)|regulation of transcription from RNA polymerase II promoter in response to iron (GO:0034395)|response to organic cyclic compound (GO:0014070)	blood microparticle (GO:0072562)|endolysosome (GO:0036019)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|phagolysosome membrane (GO:0061474)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	cysteine-type endopeptidase inhibitor activity (GO:0004869)|heme binding (GO:0020037)|heparan sulfate proteoglycan binding (GO:0043395)|heparin binding (GO:0008201)|immunoglobulin binding (GO:0019865)|metal ion binding (GO:0046872)|receptor binding (GO:0005102)|serine-type endopeptidase inhibitor activity (GO:0004867)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(4)|large_intestine(12)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	37	all_cancers(143;6.64e-12)|Ovarian(172;0.0339)		OV - Ovarian serous cystadenocarcinoma(80;5.73e-20)	GBM - Glioblastoma multiforme(93;0.0683)		CGGGATGGCTACCTTTTCCAA	0.527																																					p.Y46F		.											.	HRG-91	0			c.A137T						.						142.0	135.0	137.0					3																	186383957		2203	4300	6503	SO:0001583	missense	3273	exon1			ATGGCTACCTTTT		CCDS3280.1	3q27	2008-07-18			ENSG00000113905	ENSG00000113905			5181	protein-coding gene	gene with protein product	"""histidine-proline rich glycoprotein"", ""thrombophilia due to elevated HRG"""	142640				1678514	Standard	NM_000412		Approved	HRGP, HPRG	uc003fqq.3	P04196	OTTHUMG00000156578	ENST00000232003.4:c.137A>T	3.37:g.186383957A>T	ENSP00000232003:p.Tyr46Phe	Somatic	162	1		WXS	Illumina HiSeq	Phase_I	183	76	NM_000412	0	0	0	0	0	B9EK35|D3DNU7	Missense_Mutation	SNP	ENST00000232003.4	37	CCDS3280.1	.	.	.	.	.	.	.	.	.	.	A	18.11	3.550256	0.65311	.	.	ENSG00000113905	ENST00000232003	T	0.13538	2.58	5.5	4.21	0.49690	Proteinase inhibitor I25, cystatin (2);	0.000000	0.46145	D	0.000320	T	0.19406	0.0466	L	0.52905	1.665	0.29505	N	0.854602	P	0.41366	0.747	P	0.49853	0.624	T	0.02471	-1.1154	10	0.34782	T	0.22	-26.998	7.643	0.28305	0.7685:0.0:0.0:0.2315	.	46	P04196	HRG_HUMAN	F	46	ENSP00000232003:Y46F	ENSP00000232003:Y46F	Y	+	2	0	HRG	187866651	0.997000	0.39634	1.000000	0.80357	0.963000	0.63663	2.079000	0.41577	2.225000	0.72522	0.533000	0.62120	TAC	.		0.527	HRG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344655.1	NM_000412	
FTMT	94033	broad.mit.edu;bcgsc.ca	37	5	121187826	121187826	+	Silent	SNP	G	G	T			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr5:121187826G>T	ENST00000321339.1	+	1	177	c.168G>T	c.(166-168)cgG>cgT	p.R56R		NM_177478.1	NP_803431.1	Q8N4E7	FTMT_HUMAN	ferritin mitochondrial	56					cellular iron ion homeostasis (GO:0006879)|iron ion transport (GO:0006826)|positive regulation of cell proliferation (GO:0008284)|positive regulation of lyase activity (GO:0051349)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of transferase activity (GO:0051347)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	ferric iron binding (GO:0008199)|ferroxidase activity (GO:0004322)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(15)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	33		all_cancers(142;0.0124)|Prostate(80;0.0322)	KIRC - Kidney renal clear cell carcinoma(527;0.206)	Epithelial(69;0.000171)|OV - Ovarian serous cystadenocarcinoma(64;0.000188)|all cancers(49;0.0027)		CCTCCTCCCGGGACCCTACCG	0.751																																					p.R56R													.	FTMT-91	0			c.G168T						.						9.0	11.0	10.0					5																	121187826		2173	4253	6426	SO:0001819	synonymous_variant	94033	exon1			CTCCCGGGACCCT	BC034419	CCDS4128.1	5q23.1	2008-02-05			ENSG00000181867	ENSG00000181867			17345	protein-coding gene	gene with protein product		608847				11323407	Standard	NM_177478		Approved	MtF	uc003kss.3	Q8N4E7	OTTHUMG00000128912	ENST00000321339.1:c.168G>T	5.37:g.121187826G>T		Somatic	20	0		WXS	Illumina HiSeq	Phase_I	21	6	NM_177478	0	0	0	0	0		Silent	SNP	ENST00000321339.1	37	CCDS4128.1																																																																																			.		0.751	FTMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250884.1	NM_177478	
ASCC3	10973	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	6	101296249	101296249	+	Silent	SNP	T	T	A			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr6:101296249T>A	ENST00000369162.2	-	4	920	c.576A>T	c.(574-576)atA>atT	p.I192I	ASCC3_ENST00000522650.1_Silent_p.I192I	NM_006828.2	NP_006819.2	Q8N3C0	ASCC3_HUMAN	activating signal cointegrator 1 complex subunit 3	192					cell proliferation (GO:0008283)|DNA dealkylation involved in DNA repair (GO:0006307)|DNA duplex unwinding (GO:0032508)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|intracellular (GO:0005622)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(20)|liver(1)|lung(36)|ovary(6)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	92		all_cancers(76;1.45e-07)|Acute lymphoblastic leukemia(125;4.99e-11)|all_hematologic(75;5.82e-08)|all_epithelial(87;0.00149)|Hepatocellular(1;0.0893)|Colorectal(196;0.13)		BRCA - Breast invasive adenocarcinoma(108;0.0539)|all cancers(137;0.103)|GBM - Glioblastoma multiforme(226;0.199)		AATCTAGGCTTATAGTTTTCT	0.378																																					p.I192I		.											.	ASCC3-96	0			c.A576T						.						59.0	58.0	58.0					6																	101296249		2203	4300	6503	SO:0001819	synonymous_variant	10973	exon4			TAGGCTTATAGTT	AJ223948	CCDS5046.1, CCDS5047.1, CCDS75497.1	6q16	2008-02-05		2004-07-28	ENSG00000112249	ENSG00000112249			18697	protein-coding gene	gene with protein product	"""RNA helicase family"""	614217	"""helicase, ATP binding 1"""	HELIC1		10218103	Standard	NM_006828		Approved	RNAH, ASC1p200, dJ121G13.4, dJ467N11.1	uc003pqk.3	Q8N3C0	OTTHUMG00000015279	ENST00000369162.2:c.576A>T	6.37:g.101296249T>A		Somatic	67	0		WXS	Illumina HiSeq	Phase_I	70	16	NM_006828	0	0	0	0	0	E7EW23|O43738|Q4G1A0|Q5VTN2|Q9H1I9|Q9H5A2|Q9NTR0	Silent	SNP	ENST00000369162.2	37	CCDS5046.1																																																																																			.		0.378	ASCC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041632.2	NM_006828	
Unknown	0	broad.mit.edu	37	7	101988946	101988946	+	IGR	SNP	G	G	A			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr7:101988946G>A								Y_RNA (11564 upstream) : PRKRIP1 (15397 downstream)																							GACGCTTACGGAGCAAGGGTA	0.572																																					p.L309L													.	SPDYE6-1	0			c.C927T						.						50.0	52.0	52.0					7																	101988946		96	587	683	SO:0001628	intergenic_variant	729597	exon6			CTTACGGAGCAAG																													7.37:g.101988946G>A		Somatic	1566	1		WXS	Illumina HiSeq	Phase_I	1717	106	NM_001146210	0	0	46	47	1		Silent	SNP		37																																																																																				.	0	0.572								
KIAA1549	57670	hgsc.bcm.edu	37	7	138546145	138546145	+	Missense_Mutation	SNP	A	A	G			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr7:138546145A>G	ENST00000422774.1	-	16	5035	c.4987T>C	c.(4987-4989)Tat>Cat	p.Y1663H	KIAA1549_ENST00000242365.4_Missense_Mutation_p.Y1613H|KIAA1549_ENST00000440172.1_Missense_Mutation_p.Y1663H			Q9HCM3	K1549_HUMAN	KIAA1549	1663						integral component of membrane (GO:0016021)			KIAA1549/BRAF(703)	large_intestine(4)|pancreas(1)|upper_aerodigestive_tract(2)	7						AGGGCTGGATACCTCCCCAGT	0.582			O	BRAF	pilocytic astrocytoma																																p.Y1663H	NSCLC(119;1534 1718 44213 46230 50068)	.		Dom	yes		7	7q34	57670	KIAA1549		O	.	KIAA1549-369	0			c.T4987C						.						30.0	36.0	34.0					7																	138546145		2065	4195	6260	SO:0001583	missense	57670	exon16			CTGGATACCTCCC		CCDS47723.1, CCDS47723.2, CCDS56513.1	7q34	2009-10-09			ENSG00000122778	ENSG00000122778			22219	protein-coding gene	gene with protein product		613344					Standard	NM_020910		Approved		uc011kql.2	Q9HCM3	OTTHUMG00000157214	ENST00000422774.1:c.4987T>C	7.37:g.138546145A>G	ENSP00000416040:p.Tyr1663His	Somatic	39	0		WXS	Illumina HiSeq	Phase_I	53	3	NM_020910	0	1	31	32	0	B6HY55|B6HY56|B6HY58|B6HY60|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q5BJD6|Q8IY15|Q9H0M3	Missense_Mutation	SNP	ENST00000422774.1	37	CCDS56513.1	.	.	.	.	.	.	.	.	.	.	A	15.93	2.979169	0.53827	.	.	ENSG00000122778	ENST00000440172;ENST00000242365;ENST00000422774	T;T;T	0.24538	1.85;1.86;1.86	4.49	4.49	0.54785	.	0.398524	0.28853	N	0.013924	T	0.43831	0.1265	L	0.52573	1.65	0.37822	D	0.928436	D;D;D;D	0.89917	1.0;0.99;1.0;0.99	D;P;D;P	0.77557	0.99;0.885;0.984;0.885	T	0.47686	-0.9098	10	0.54805	T	0.06	.	13.418	0.60980	1.0:0.0:0.0:0.0	.	1663;447;1663;447	Q9HCM3;Q9HCM3-4;Q9HCM3-2;Q9HCM3-3	K1549_HUMAN;.;.;.	H	1663;1613;1663	ENSP00000406661:Y1663H;ENSP00000242365:Y1613H;ENSP00000416040:Y1663H	ENSP00000242365:Y1613H	Y	-	1	0	KIAA1549	138196685	1.000000	0.71417	0.479000	0.27329	0.345000	0.29048	5.649000	0.67936	2.010000	0.58986	0.460000	0.39030	TAT	.		0.582	KIAA1549-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348092.1		
TTI2	80185	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	33369560	33369560	+	Missense_Mutation	SNP	A	A	T			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr8:33369560A>T	ENST00000431156.2	-	2	1190	c.572T>A	c.(571-573)tTc>tAc	p.F191Y	SNORD13_ENST00000459299.1_RNA|TTI2_ENST00000519356.1_5'Flank|TTI2_ENST00000360742.5_Missense_Mutation_p.F191Y|TTI2_ENST00000520636.1_Missense_Mutation_p.F191Y	NM_001102401.2	NP_001095871.1	Q6NXR4	TTI2_HUMAN	TELO2 interacting protein 2	191																	TCCATGTAGGAATCCTGCCAC	0.502																																					p.F191Y		.											.	.	0			c.T572A						.						191.0	196.0	194.0					8																	33369560		2203	4300	6503	SO:0001583	missense	80185	exon2			TGTAGGAATCCTG	AK026916	CCDS6090.1	8p12	2011-11-10	2011-11-10	2011-09-22		ENSG00000129696			26262	protein-coding gene	gene with protein product		614426	"""chromosome 8 open reading frame 41"", ""Tel2 interacting protein 2 homolog (S. pombe)"""	C8orf41		20801936, 20810650	Standard	NM_025115		Approved	FLJ23263	uc003xjm.5	Q6NXR4		ENST00000431156.2:c.572T>A	8.37:g.33369560A>T	ENSP00000411169:p.Phe191Tyr	Somatic	353	0		WXS	Illumina HiSeq	Phase_I	363	95	NM_001265581	0	0	2	5	3	D3DSV7|Q96IM2|Q9H5N4	Missense_Mutation	SNP	ENST00000431156.2	37	CCDS6090.1	.	.	.	.	.	.	.	.	.	.	A	18.29	3.592154	0.66219	.	.	ENSG00000129696	ENST00000360742;ENST00000431156;ENST00000522668;ENST00000520636;ENST00000520397	T;T;T	0.76709	-1.04;-1.04;-1.04	4.66	4.66	0.58398	.	0.101991	0.43579	D	0.000544	D	0.85102	0.5620	M	0.76838	2.35	0.25824	N	0.984245	D;D;D	0.63880	0.993;0.993;0.993	P;P;P	0.60012	0.867;0.867;0.867	T	0.79057	-0.1959	10	0.72032	D	0.01	-23.4405	11.5884	0.50931	1.0:0.0:0.0:0.0	.	191;191;191	E5RH83;Q6NXR4;E5RIH5	.;TTI2_HUMAN;.	Y	191	ENSP00000353971:F191Y;ENSP00000411169:F191Y;ENSP00000428401:F191Y	ENSP00000353971:F191Y	F	-	2	0	C8orf41	33489102	1.000000	0.71417	0.326000	0.25389	0.530000	0.34684	5.556000	0.67307	1.954000	0.56735	0.533000	0.62120	TTC	.		0.502	TTI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376555.1	NM_025115	
TERF1	7013	broad.mit.edu;ucsc.edu;bcgsc.ca	37	8	73921183	73921183	+	Missense_Mutation	SNP	C	C	T	rs370999354		TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr8:73921183C>T	ENST00000276603.5	+	1	85	c.62C>T	c.(61-63)gCc>gTc	p.A21V	TERF1_ENST00000276602.6_Missense_Mutation_p.A21V	NM_017489.2	NP_059523.2	P54274	TERF1_HUMAN	telomeric repeat binding factor (NIMA-interacting) 1	21	Asp/Glu-rich (acidic).				age-dependent telomere shortening (GO:0001309)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of DNA replication (GO:0008156)|negative regulation of telomerase activity (GO:0051974)|negative regulation of telomere maintenance via semi-conservative replication (GO:0032214)|negative regulation of telomere maintenance via telomerase (GO:0032211)|positive regulation of apoptotic process (GO:0043065)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of mitosis (GO:0045840)|positive regulation of mitotic cell cycle (GO:0045931)|protein homooligomerization (GO:0051260)|response to drug (GO:0042493)|telomere maintenance (GO:0000723)|telomere maintenance via telomerase (GO:0007004)|telomere maintenance via telomere shortening (GO:0010834)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nuclear telomere cap complex (GO:0000783)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|double-stranded telomeric DNA binding (GO:0003691)|microtubule binding (GO:0008017)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|telomeric DNA binding (GO:0042162)			central_nervous_system(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	9	Breast(64;0.218)		Epithelial(68;0.0984)			GGTAGGGATGCCGACCCTACT	0.637													C|||	1	0.000199681	0.0	0.0	5008	,	,		15699	0.0		0.0	False		,,,				2504	0.001				p.A21V													.	TERF1-228	0			c.C62T						.	C	VAL/ALA,VAL/ALA	0,4406		0,0,2203	20.0	22.0	21.0		62,62	3.5	0.0	8		21	1,8597		0,1,4298	no	missense,missense	TERF1	NM_003218.3,NM_017489.2	64,64	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging,probably-damaging	21/420,21/440	73921183	1,13003	2203	4299	6502	SO:0001583	missense	7013	exon1			GGGATGCCGACCC	U74382	CCDS6210.1, CCDS6211.1	8q21.11	2011-05-24			ENSG00000147601	ENSG00000147601			11728	protein-coding gene	gene with protein product		600951		TRBF1		9391075	Standard	NM_003218		Approved	PIN2, TRF1, TRF	uc003xzd.2	P54274	OTTHUMG00000164522	ENST00000276603.5:c.62C>T	8.37:g.73921183C>T	ENSP00000276603:p.Ala21Val	Somatic	52	0		WXS	Illumina HiSeq	Phase_I	46	9	NM_017489	0	0	4	8	4	A7XP29|Q15553|Q8NHT6|Q93029	Missense_Mutation	SNP	ENST00000276603.5	37	CCDS6211.1	.	.	.	.	.	.	.	.	.	.	C	17.88	3.496693	0.64186	0.0	1.16E-4	ENSG00000147601	ENST00000276603;ENST00000276602;ENST00000518874	.	.	.	4.41	3.52	0.40303	.	0.427983	0.25391	N	0.031013	T	0.35189	0.0923	L	0.29908	0.895	0.09310	N	1	D;D	0.56521	0.961;0.976	P;P	0.51974	0.616;0.686	T	0.11591	-1.0581	9	0.87932	D	0	.	9.781	0.40649	0.3758:0.6242:0.0:0.0	.	21;21	P54274-2;P54274	.;TERF1_HUMAN	V	21	.	ENSP00000276602:A21V	A	+	2	0	TERF1	74083737	0.001000	0.12720	0.017000	0.16124	0.002000	0.02628	0.298000	0.19120	1.436000	0.47453	-0.321000	0.08615	GCC	.		0.637	TERF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379093.1	NM_017489	
PSCA	8000	hgsc.bcm.edu	37	8	143762846	143762846	+	Missense_Mutation	SNP	C	C	G			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr8:143762846C>G	ENST00000301258.4	+	2	210	c.127C>G	c.(127-129)Cgc>Ggc	p.R43G	PSCA_ENST00000513264.1_Missense_Mutation_p.R43G|PSCA_ENST00000505305.1_3'UTR	NM_005672.4	NP_005663.2	O43653	PSCA_HUMAN	prostate stem cell antigen	52	UPAR/Ly6.					anchored component of membrane (GO:0031225)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				endometrium(1)|large_intestine(1)	2	all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)					CTGGACCGCGCGCATCCGTGA	0.607																																					p.R43G		.											.	.	0			c.C127G						.						12.0	16.0	15.0					8																	143762846		2125	4209	6334	SO:0001583	missense	8000	exon2			ACCGCGCGCATCC	AF043498	CCDS47925.1, CCDS47925.2	8q24.2	2004-02-03				ENSG00000167653			9500	protein-coding gene	gene with protein product		602470				9465086	Standard	NM_005672		Approved		uc022bcd.1	O43653		ENST00000301258.4:c.127C>G	8.37:g.143762846C>G	ENSP00000301258:p.Arg43Gly	Somatic	14	0		WXS	Illumina HiSeq	Phase_I	16	6	NM_005672	0	0	0	0	0	Q6UW92	Missense_Mutation	SNP	ENST00000301258.4	37	CCDS47925.2	.	.	.	.	.	.	.	.	.	.	C	11.60	1.686883	0.29962	.	.	ENSG00000167653	ENST00000301258;ENST00000513264	T	0.70399	-0.48	2.97	2.09	0.27110	Ly-6 antigen / uPA receptor -like (1);CD59 antigen (1);	1.295300	0.05740	N	0.601212	T	0.75079	0.3801	M	0.72894	2.215	0.09310	N	1	P	0.43169	0.8	P	0.50162	0.633	T	0.57837	-0.7742	10	0.26408	T	0.33	.	6.0755	0.19913	0.0:0.8561:0.0:0.1439	.	52	O43653	PSCA_HUMAN	G	52	ENSP00000426508:R52G	ENSP00000301258:R52G	R	+	1	0	PSCA	143759848	0.001000	0.12720	0.001000	0.08648	0.176000	0.22953	1.247000	0.32815	0.837000	0.34925	0.456000	0.33151	CGC	.		0.607	PSCA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367112.2	NM_005672	
TLN1	7094	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	35698169	35698169	+	Splice_Site	SNP	C	C	G	rs555751291		TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr9:35698169C>G	ENST00000314888.9	-	56	7725	c.7372G>C	c.(7372-7374)Gct>Cct	p.A2458P	TLN1_ENST00000540444.1_Splice_Site_p.A2346P	NM_006289.3	NP_006280.3	Q9Y490	TLN1_HUMAN	talin 1	2458	I/LWEQ. {ECO:0000255|PROSITE- ProRule:PRU00292}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell-cell junction assembly (GO:0007043)|cell-substrate junction assembly (GO:0007044)|cellular component movement (GO:0006928)|cellular protein metabolic process (GO:0044267)|cortical actin cytoskeleton organization (GO:0030866)|cytoskeletal anchoring at plasma membrane (GO:0007016)|endoplasmic reticulum unfolded protein response (GO:0030968)|muscle contraction (GO:0006936)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|microtubule organizing center (GO:0005815)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	integrin binding (GO:0005178)|LIM domain binding (GO:0030274)|structural constituent of cytoskeleton (GO:0005200)|vinculin binding (GO:0017166)			NS(2)|breast(8)|central_nervous_system(2)|endometrium(10)|kidney(5)|large_intestine(9)|lung(32)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(6)	85	all_epithelial(49;0.167)		Lung(28;0.00276)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			TTGCCAGCAGCCTGGGCAGAG	0.512																																					p.A2458P		.											.	TLN1-609	0			c.G7372C						.						74.0	68.0	70.0					9																	35698169		2203	4300	6503	SO:0001630	splice_region_variant	7094	exon56			CAGCAGCCTGGGC	AB028950	CCDS35009.1	9p23-p21	2008-02-05			ENSG00000137076	ENSG00000137076			11845	protein-coding gene	gene with protein product		186745		TLN		7635475, 10610730	Standard	NM_006289		Approved	ILWEQ	uc003zxt.2	Q9Y490	OTTHUMG00000019874	ENST00000314888.9:c.7372-1G>C	9.37:g.35698169C>G		Somatic	70	0		WXS	Illumina HiSeq	Phase_I	83	14	NM_006289	0	0	0	0	0	A6NMY0|Q86YD0|Q9NZQ2|Q9UHH8|Q9UPX3	Missense_Mutation	SNP	ENST00000314888.9	37	CCDS35009.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.417660	0.83449	.	.	ENSG00000137076	ENST00000314888;ENST00000540444	T;T	0.31769	1.48;1.48	4.83	4.83	0.62350	I/LWEQ (4);	0.053747	0.85682	D	0.000000	T	0.56441	0.1985	M	0.79258	2.445	0.80722	D	1	D	0.63880	0.993	D	0.65323	0.934	T	0.60747	-0.7202	10	0.56958	D	0.05	-4.1588	18.0913	0.89476	0.0:1.0:0.0:0.0	.	2458	Q9Y490	TLN1_HUMAN	P	2458;2346	ENSP00000316029:A2458P;ENSP00000442981:A2346P	ENSP00000316029:A2458P	A	-	1	0	TLN1	35688169	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	4.752000	0.62176	2.509000	0.84616	0.655000	0.94253	GCT	.		0.512	TLN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052353.2	NM_006289	Missense_Mutation
SPATA31C1	441452	broad.mit.edu;ucsc.edu;bcgsc.ca	37	9	90536638	90536638	+	RNA	SNP	T	T	A			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr9:90536638T>A	ENST00000602681.1	+	0	1927							P0DKV0	S31C1_HUMAN	SPATA31 subfamily C, member 1						cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GCGTCGATCCTGGCTTGCTGT	0.522																																					p.W606R													.	.	0			c.T1816A						.						40.0	35.0	36.0					9																	90536638		692	1591	2283			441452	exon4			CGATCCTGGCTTG	AK093374		9q22.1	2014-03-18	2012-10-12	2012-10-12	ENSG00000230246	ENSG00000230246			27846	other	unknown			"""family with sequence similarity 75, member C1"""	FAM75C1			Standard	NM_001145124		Approved	FLJ36055	uc010mqi.3	P0DKV0	OTTHUMG00000020160		9.37:g.90536638T>A		Somatic	248	1		WXS	Illumina HiSeq	Phase_I	284	87	NM_001145124	0	0	0	0	0		Missense_Mutation	SNP	ENST00000602681.1	37																																																																																				.		0.522	SPATA31C1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000467313.1	NM_001145124	
MAOA	4128	ucsc.edu	37	X	43515619	43515619	+	Silent	SNP	G	G	A			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chrX:43515619G>A	ENST00000338702.3	+	1	153	c.30G>A	c.(28-30)gcG>gcA	p.A10A	MAOA_ENST00000542639.1_5'UTR|MAOA_ENST00000497485.1_3'UTR	NM_000240.3	NP_000231.1	P21397	AOFA_HUMAN	monoamine oxidase A	10					cellular biogenic amine metabolic process (GO:0006576)|dopamine catabolic process (GO:0042420)|neurotransmitter biosynthetic process (GO:0042136)|neurotransmitter catabolic process (GO:0042135)|neurotransmitter secretion (GO:0007269)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|xenobiotic metabolic process (GO:0006805)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	primary amine oxidase activity (GO:0008131)			NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(2)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	18					Almotriptan(DB00918)|Dopamine(DB00988)|Ephedra(DB01363)|Flavin adenine dinucleotide(DB03147)|Furazolidone(DB00614)|Isocarboxazid(DB01247)|Linezolid(DB00601)|Methamphetamine(DB01577)|Minaprine(DB00805)|Moclobemide(DB01171)|Nandrolone decanoate(DB08804)|Naratriptan(DB00952)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Phenylephrine(DB00388)|Phenylpropanolamine(DB00397)|Procaine(DB00721)|Pseudoephedrine(DB00852)|Riboflavin(DB00140)|Rizatriptan(DB00953)|Selegiline(DB01037)|Sertraline(DB01104)|Sumatriptan(DB00669)|Testosterone(DB00624)|Tranylcypromine(DB00752)|Zolmitriptan(DB00315)|Zonisamide(DB00909)	CGAGTATCGCGGGCCACATGT	0.607																																					p.A10A													.	MAOA-194	0			c.G30A						.						139.0	80.0	100.0					X																	43515619		2203	4300	6503	SO:0001819	synonymous_variant	4128	exon1			TATCGCGGGCCAC		CCDS14260.1, CCDS59163.1	Xp11.4-p11.3	2008-02-05			ENSG00000189221	ENSG00000189221	1.4.3.4		6833	protein-coding gene	gene with protein product		309850					Standard	NM_000240		Approved		uc004dfy.4	P21397	OTTHUMG00000021387	ENST00000338702.3:c.30G>A	X.37:g.43515619G>A		Somatic	33	0		WXS	Illumina HiSeq		34	4	NM_000240	0	0	19	19	0	B4DF46|Q16426	Silent	SNP	ENST00000338702.3	37	CCDS14260.1																																																																																			.		0.607	MAOA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056300.1	NM_000240	
MORC4	79710	hgsc.bcm.edu;broad.mit.edu;ucsc.edu;bcgsc.ca	37	X	106201626	106201626	+	Missense_Mutation	SNP	A	A	G			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chrX:106201626A>G	ENST00000355610.4	-	11	1599	c.1325T>C	c.(1324-1326)aTt>aCt	p.I442T	MORC4_ENST00000255495.7_Missense_Mutation_p.I442T|MORC4_ENST00000535534.1_Missense_Mutation_p.I190T	NM_001085354.2|NM_024657.4	NP_001078823.1|NP_078933.3	Q8TE76	MORC4_HUMAN	MORC family CW-type zinc finger 4	442						nucleus (GO:0005634)	zinc ion binding (GO:0008270)			endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	28						GGATGGATCAATCTTCCCAGG	0.423																																					p.I442T		.											.	MORC4-131	0			c.T1325C						.						132.0	111.0	118.0					X																	106201626		2203	4300	6503	SO:0001583	missense	79710	exon11			GGATCAATCTTCC	AK021627	CCDS14525.2, CCDS48146.1	Xq22.3	2008-02-05	2005-06-15	2005-06-15	ENSG00000133131	ENSG00000133131			23485	protein-coding gene	gene with protein product			"""zinc finger, CW-type with coiled-coil domain 2"", ""zinc finger, CW type with coiled-coil domain 2"""	ZCWCC2		14607086	Standard	NM_024657		Approved	ZCW4, FLJ11565	uc004emp.4	Q8TE76	OTTHUMG00000022155	ENST00000355610.4:c.1325T>C	X.37:g.106201626A>G	ENSP00000347821:p.Ile442Thr	Somatic	50	0		WXS	Illumina HiSeq	Phase_I	59	32	NM_001085354	0	0	5	10	5	A1YR23|A1YR24|H7BXF1|Q5JUK7|Q96MZ2|Q9HAI7	Missense_Mutation	SNP	ENST00000355610.4	37	CCDS14525.2	.	.	.	.	.	.	.	.	.	.	A	11.41	1.630627	0.28978	.	.	ENSG00000133131	ENST00000355610;ENST00000535534;ENST00000255495	T;T;T	0.30981	2.76;1.51;2.75	5.93	5.93	0.95920	Zinc finger, CW-type (2);	0.519296	0.19062	N	0.123746	T	0.27278	0.0669	L	0.37466	1.105	0.24268	N	0.995258	B;B;B	0.26975	0.165;0.042;0.042	B;B;B	0.28385	0.089;0.055;0.055	T	0.26815	-1.0092	10	0.72032	D	0.01	-5.7895	11.5626	0.50785	1.0:0.0:0.0:0.0	.	190;442;442	A1YR24;A1YR23;Q8TE76	.;.;MORC4_HUMAN	T	442;190;442	ENSP00000347821:I442T;ENSP00000440359:I190T;ENSP00000255495:I442T	ENSP00000255495:I442T	I	-	2	0	MORC4	106088282	0.305000	0.24481	0.911000	0.35937	0.454000	0.32378	1.929000	0.40114	2.004000	0.58718	0.441000	0.28932	ATT	.		0.423	MORC4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057816.3	NM_024657	
LMO4	8543	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	1	87805263	87805263	+	Frame_Shift_Del	DEL	T	T	-			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr1:87805263delT	ENST00000370544.5	+	3	1061	c.281delT	c.(280-282)attfs	p.I94fs	LMO4_ENST00000489303.1_3'UTR|LMO4_ENST00000370542.1_Frame_Shift_Del_p.I94fs	NM_006769.3	NP_006760.1	P61968	LMO4_HUMAN	LIM domain only 4	94	LIM zinc-binding 2. {ECO:0000255|PROSITE- ProRule:PRU00125}.				negative regulation of protein complex assembly (GO:0031333)|neural tube closure (GO:0001843)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell activation (GO:0050865)|regulation of cell fate specification (GO:0042659)|spinal cord association neuron differentiation (GO:0021527)|spinal cord motor neuron differentiation (GO:0021522)|thymus development (GO:0048538)|transcription from RNA polymerase II promoter (GO:0006366)|ventral spinal cord interneuron differentiation (GO:0021514)|ventricular septum development (GO:0003281)	transcription factor complex (GO:0005667)	enhancer sequence-specific DNA binding (GO:0001158)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(1)	9		Lung NSC(277;0.179)		all cancers(265;0.00456)|Epithelial(280;0.0148)|BRCA - Breast invasive adenocarcinoma(282;0.153)		GGACAGTCGATTCCTGCGAGT	0.388																																					p.I94fs		.											.	LMO4-226	0			c.281delT						.						95.0	95.0	95.0					1																	87805263		2203	4300	6503	SO:0001589	frameshift_variant	8543	exon3			.	U24576	CCDS713.1	1p22.3	2008-02-05			ENSG00000143013	ENSG00000143013			6644	protein-coding gene	gene with protein product		603129					Standard	NM_006769		Approved		uc001dmi.3	P61968	OTTHUMG00000010248	ENST00000370544.5:c.281delT	1.37:g.87805263delT	ENSP00000359575:p.Ile94fs	Somatic	54	0		WXS	Illumina HiSeq	Phase_I	58	17	NM_006769	0	0	0	0	0	D3DT23|O00158|O88894	Frame_Shift_Del	DEL	ENST00000370544.5	37	CCDS713.1																																																																																			.		0.388	LMO4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028264.2	NM_006769	
AGBL2	79841	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	11	47726183	47726183	+	Frame_Shift_Del	DEL	G	G	-	rs373862581		TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr11:47726183delG	ENST00000525123.1	-	7	783	c.498delC	c.(496-498)ctcfs	p.L166fs	AGBL2_ENST00000298861.4_Frame_Shift_Del_p.L166fs|AGBL2_ENST00000529712.1_5'UTR|AGBL2_ENST00000528244.1_Frame_Shift_Del_p.L128fs|AGBL2_ENST00000357610.3_Frame_Shift_Del_p.L166fs	NM_024783.3	NP_079059.2	Q5U5Z8	CBPC2_HUMAN	ATP/GTP binding protein-like 2	166						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						AAATGGAAAAGAGCTCTTGGG	0.428																																					p.L166fs		.											.	AGBL2-92	0			c.498delC						.						141.0	132.0	135.0					11																	47726183		2201	4298	6499	SO:0001589	frameshift_variant	79841	exon7			.		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.498delC	11.37:g.47726183delG	ENSP00000435582:p.Leu166fs	Somatic	112	0		WXS	Illumina HiSeq	Phase_I	98	24	NM_024783	0	0	0	0	0	A8MPX2|Q53FV5|Q8IV57|Q9H5C0	Frame_Shift_Del	DEL	ENST00000525123.1	37	CCDS7944.1																																																																																			.		0.428	AGBL2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000383726.2	NM_024783	
PDGFRB	5159	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	5	149515196	149515213	+	In_Frame_Del	DEL	CCGTGTCTAGCCCAGTGA	CCGTGTCTAGCCCAGTGA	-	rs141870925|rs188981582|rs556826386	byFrequency	TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08	CCGTGTCTAGCCCAGTGA	CCGTGTCTAGCCCAGTGA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr5:149515196_149515213delCCGTGTCTAGCCCAGTGA	ENST00000261799.4	-	3	738_755	c.269_286delTCACTGGGCTAGACACGG	c.(268-288)ctcactgggctagacacggga>cga	p.90_96LTGLDTG>R		NM_002609.3	NP_002600.1	P09619	PGFRB_HUMAN	platelet-derived growth factor receptor, beta polypeptide	90	Ig-like C2-type 1.				adrenal gland development (GO:0030325)|aorta morphogenesis (GO:0035909)|cardiac myofibril assembly (GO:0055003)|cell chemotaxis (GO:0060326)|cell migration (GO:0016477)|cell migration involved in coronary angiogenesis (GO:0060981)|cell migration involved in vasculogenesis (GO:0035441)|cellular response to platelet-derived growth factor stimulus (GO:0036120)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled receptor signaling pathway (GO:0007186)|glycosaminoglycan biosynthetic process (GO:0006024)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|metanephric comma-shaped body morphogenesis (GO:0072278)|metanephric glomerular capillary formation (GO:0072277)|metanephric glomerular mesangial cell proliferation involved in metanephros development (GO:0072262)|metanephric mesenchymal cell migration (GO:0035789)|metanephric mesenchyme development (GO:0072075)|metanephric S-shaped body morphogenesis (GO:0072284)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol metabolic process (GO:0046488)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|platelet-derived growth factor receptor-beta signaling pathway (GO:0035791)|positive regulation of calcium ion import (GO:0090280)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell proliferation by VEGF-activated platelet derived growth factor receptor signaling pathway (GO:0038091)|positive regulation of chemotaxis (GO:0050921)|positive regulation of collagen biosynthetic process (GO:0032967)|positive regulation of DNA biosynthetic process (GO:2000573)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of metanephric mesenchymal cell migration by platelet-derived growth factor receptor-beta signaling pathway (GO:0035793)|positive regulation of mitosis (GO:0045840)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of smooth muscle cell migration (GO:0014911)|positive regulation of smooth muscle cell proliferation (GO:0048661)|protein autophosphorylation (GO:0046777)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to estradiol (GO:0032355)|response to fluid shear stress (GO:0034405)|response to hydrogen peroxide (GO:0042542)|response to hyperoxia (GO:0055093)|response to retinoic acid (GO:0032526)|response to toxic substance (GO:0009636)|retina vasculature development in camera-type eye (GO:0061298)|signal transduction (GO:0007165)|skeletal system morphogenesis (GO:0048705)|smooth muscle cell chemotaxis (GO:0071670)|smooth muscle tissue development (GO:0048745)|tissue homeostasis (GO:0001894)|transforming growth factor beta receptor signaling pathway (GO:0007179)|wound healing (GO:0042060)	apical plasma membrane (GO:0016324)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|intrinsic component of plasma membrane (GO:0031226)|lysosome (GO:0005764)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|platelet activating factor receptor activity (GO:0004992)|platelet-derived growth factor beta-receptor activity (GO:0005019)|platelet-derived growth factor binding (GO:0048407)|platelet-derived growth factor receptor binding (GO:0005161)|platelet-derived growth factor-activated receptor activity (GO:0005017)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|vascular endothelial growth factor binding (GO:0038085)			breast(3)|central_nervous_system(5)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(9)|kidney(3)|large_intestine(12)|lung(20)|ovary(3)|prostate(3)|skin(3)|stomach(6)|urinary_tract(1)	75		all_hematologic(541;0.224)	KIRC - Kidney renal clear cell carcinoma(527;0.000785)|Kidney(363;0.00101)		Becaplermin(DB00102)|Dasatinib(DB01254)|Imatinib(DB00619)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	AAGTATTCTCCCGTGTCTAGCCCAGTGAGGTTGGTCAG	0.592			T	"""ETV6, TRIP11, HIP1, RAB5EP, H4, NIN, HCMOGT-1, PDE4DIP"""	"""MPD, AML, CMML, CML"""																																p.90_96del		.		Dom	yes		5	5q31-q32	5159	"""platelet-derived growth factor receptor, beta polypeptide"""		L	.	PDGFRB-1499	0			c.269_286del						.																																			SO:0001651	inframe_deletion	5159	exon3			.	M21616	CCDS4303.1	5q33.1	2013-01-29			ENSG00000113721	ENSG00000113721		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	8804	protein-coding gene	gene with protein product		173410		PDGFR			Standard	XM_005268464		Approved	JTK12, CD140b, PDGFR1	uc003lro.3	P09619	OTTHUMG00000130053	ENST00000261799.4:c.269_286delTCACTGGGCTAGACACGG	5.37:g.149515196_149515213delCCGTGTCTAGCCCAGTGA	ENSP00000261799:p.Leu90_Gly96delinsArg	Somatic	131	0		WXS	Illumina HiSeq	Phase_I	116	22	NM_002609	0	0	0	0	0	B5A957|Q8N5L4	In_Frame_Del	DEL	ENST00000261799.4	37	CCDS4303.1																																																																																			.		0.592	PDGFRB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252332.1	NM_002609	
NOM1	64434	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	7	156752614	156752614	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr7:156752614delA	ENST00000275820.3	+	4	1393	c.1378delA	c.(1378-1380)aaafs	p.K460fs	NOM1_ENST00000460332.1_3'UTR	NM_138400.1	NP_612409.1	Q5C9Z4	NOM1_HUMAN	nucleolar protein with MIF4G domain 1	460	MIF4G. {ECO:0000255|PROSITE- ProRule:PRU00698}.					nucleolus (GO:0005730)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(4)|large_intestine(9)|lung(7)|ovary(1)|prostate(2)|skin(2)|urinary_tract(1)	31	Ovarian(565;0.218)	all_hematologic(28;0.0749)	OV - Ovarian serous cystadenocarcinoma(82;0.00301)	UCEC - Uterine corpus endometrioid carcinoma (81;0.169)		AAGCGAAGGGAAAGAGTGTGA	0.443																																					p.K460fs		.											.	NOM1-90	0			c.1378delA						.						128.0	109.0	115.0					7																	156752614		2203	4300	6503	SO:0001589	frameshift_variant	64434	exon4			.	AF107455	CCDS34787.1	7q36.3	2014-06-13	2005-03-30	2005-03-30	ENSG00000146909	ENSG00000146909			13244	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 113"""	611269	"""chromosome 7 open reading frame 3"""	C7orf3		10329000	Standard	XM_005249560		Approved	SGD1, PPP1R113	uc003wmy.3	Q5C9Z4	OTTHUMG00000152639	ENST00000275820.3:c.1378delA	7.37:g.156752614delA	ENSP00000275820:p.Lys460fs	Somatic	58	0		WXS	Illumina HiSeq	Phase_I	61	16	NM_138400	0	0	0	0	0	Q96I08	Frame_Shift_Del	DEL	ENST00000275820.3	37	CCDS34787.1																																																																																			.		0.443	NOM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327098.1	NM_138400	
ZNF407	55628	hgsc.bcm.edu;broad.mit.edu;bcgsc.ca	37	18	72344119	72344120	+	Frame_Shift_Ins	INS	-	-	TA			TCGA-BQ-7062-01A-11D-1961-08	TCGA-BQ-7062-11A-01D-1961-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none	.		Illumina GAIIx	8017a612-f39d-4ab8-bd99-55f6568c4bd8	46dc5965-f675-4a6a-8374-017cd8873bb9	g.chr18:72344119_72344120insTA	ENST00000299687.5	+	1	1144_1145	c.1144_1145insTA	c.(1144-1146)ctafs	p.L382fs	ZNF407_ENST00000582337.1_Frame_Shift_Ins_p.L382fs|ZNF407_ENST00000577538.1_Frame_Shift_Ins_p.L382fs|ZNF407_ENST00000309902.6_Frame_Shift_Ins_p.L382fs	NM_017757.2	NP_060227.2	Q9C0G0	ZN407_HUMAN	zinc finger protein 407	382					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(6)|kidney(7)|large_intestine(21)|lung(23)|ovary(4)|prostate(3)|upper_aerodigestive_tract(2)	67		Esophageal squamous(42;0.131)|Prostate(75;0.173)		BRCA - Breast invasive adenocarcinoma(31;0.184)		GAGTAGAAAGCTAGACACCTTA	0.431																																					p.L382fs		.											.	ZNF407-92	0			c.1144_1145insTA						.																																			SO:0001589	frameshift_variant	55628	exon1			.	AB051490	CCDS45885.1, CCDS54191.1, CCDS58634.1	18q23	2013-01-08			ENSG00000215421	ENSG00000215421		"""Zinc fingers, C2H2-type"""	19904	protein-coding gene	gene with protein product		615894				11214970	Standard	NM_017757		Approved	FLJ20307, FLJ13839, KIAA1703	uc002llw.2	Q9C0G0		ENST00000299687.5:c.1145_1146dupTA	18.37:g.72344120_72344121dupTA	ENSP00000299687:p.Leu382fs	Somatic	75	0		WXS	Illumina HiSeq	Phase_I	94	26	NM_001146190	0	0	0	0	0	B5MD54|Q96MY0|Q9H8A1|Q9NXD4|Q9NXD7	Frame_Shift_Ins	INS	ENST00000299687.5	37	CCDS45885.1																																																																																			.		0.431	ZNF407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444903.1	NM_017757	
