#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_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_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_match_norm_validation_allele1	i_refseq_mrna_id	i_secondary_variant_classification
ADRA2B	151	hgsc.bcm.edu	37	2	96780986	96780987	+	In_Frame_Ins	INS	-	-	TCCTCCTCT	rs4426564|rs60083507|rs28365031|rs34667759|rs29000568	byFrequency	TCGA-A3-3308-01A-01D-0966-08	TCGA-A3-3308-11A-01D-0966-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f89396-6b77-4592-908c-39cc24a829da	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr2:96780986_96780987insTCCTCCTCT	ENST00000409345.3	-	1	997_998	c.902_903insAGAGGAGGA	c.(901-903)gag>gaAGAGGAGGAg	p.301_301E>EEEE		NM_000682.5	NP_000673	P18089	ADA2B_HUMAN	adrenoceptor alpha 2B	301	Asp/Glu-rich (acidic).				activation of MAPK activity by adrenergic receptor signaling pathway (GO:0071883)|activation of protein kinase B activity (GO:0032148)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cell-cell signaling (GO:0007267)|epidermal growth factor-activated receptor transactivation by G-protein coupled receptor signaling pathway (GO:0035625)|female pregnancy (GO:0007565)|G-protein coupled receptor signaling pathway (GO:0007186)|MAPK cascade (GO:0000165)|negative regulation of epinephrine secretion (GO:0032811)|negative regulation of norepinephrine secretion (GO:0010700)|platelet activation (GO:0030168)|positive regulation of blood pressure (GO:0045777)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of uterine smooth muscle contraction (GO:0070474)|regulation of vascular smooth muscle contraction (GO:0003056)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	alpha2-adrenergic receptor activity (GO:0004938)|epinephrine binding (GO:0051379)			endometrium(2)|large_intestine(2)|lung(9)|ovary(3)	16					Amoxapine(DB00543)|Amphetamine(DB00182)|Apomorphine(DB00714)|Apraclonidine(DB00964)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bethanidine(DB00217)|Brimonidine(DB00484)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Desipramine(DB01151)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Ephedra(DB01363)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Etomidate(DB00292)|Fenoldopam(DB00800)|Guanabenz(DB00629)|Guanfacine(DB01018)|Lisuride(DB00589)|Loxapine(DB00408)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Mianserin(DB06148)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phenoxybenzamine(DB00925)|Pramipexole(DB00413)|Prazosin(DB00457)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Tizanidine(DB00697)|Tolazoline(DB00797)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Yohimbine(DB01392)|Ziprasidone(DB00246)	cctcctcctcctcctcctcttc	0.658														2357	0.470647	0.5151	0.4625	5008	,	,		17797	0.4067		0.4652	False		,,,				2504	0.4877																0										3210,27,22,767		1369,23,7,442,1,0,2,7,1,161						-1.6	0.6		dbSNP_130	13	5261,50,21,2686		1819,45,7,1571,1,0,3,4,6,553	no	codingComplex	ADRA2B	NM_000682.5		3188,68,14,2013,2,0,5,11,7,714	A1A1,A1A2,A1A3,A1R,A2A2,A2A3,A2R,A3A3,A3R,RR		34.3851,20.2683,29.6662				8471,77,43,3453				SO:0001652	inframe_insertion	151			M34041	CCDS56129.1	2q11.1	2014-05-06	2012-05-09		ENSG00000222040	ENSG00000274286		"""GPCR / Class A : Adrenoceptors : alpha"""	282	protein-coding gene	gene with protein product		104260	"""adrenergic, alpha-2B-, receptor"""	ADRA2L1, ADRA2RL1		2164221	Standard	NM_000682		Approved	ADRARL1	uc021vlh.1	P18089	OTTHUMG00000188276	ENST00000409345.3:c.894_902dupAGAGGAGGA	2.37:g.96780987_96780995dupTCCTCCTCT	ENSP00000387281:p.GluGluGlu304dup	Somatic		WXS	Illumina HiSeq	Phase_I	Q4TUH9|Q53RF2|Q9BZK0	In_Frame_Ins	INS	ENST00000409345.3	37	CCDS56129.1																																																																																				0.658	ADRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334990.1			
ALS2CR11	151254	hgsc.bcm.edu	37	2	202430456	202430456	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3308-01A-01D-0966-08	TCGA-A3-3308-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f89396-6b77-4592-908c-39cc24a829da	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr2:202430456C>T	ENST00000286195.3	-	9	1017	c.973G>A	c.(973-975)Gaa>Aaa	p.E325K	ALS2CR11_ENST00000439140.1_Missense_Mutation_p.E325K|ALS2CR11_ENST00000450242.1_Missense_Mutation_p.E325K|ALS2CR11_ENST00000439802.1_Missense_Mutation_p.E325K	NM_152525.5	NP_689738.3	Q53TS8	AL2SA_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 11	325										NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(10)|lung(11)|ovary(1)|skin(5)|urinary_tract(3)	33						ttttACCTTTCCCGGGGTTGT	0.368																																																	0													30.0	30.0	30.0					2																	202430456		2203	4300	6503	SO:0001583	missense	151254			AB053313	CCDS2349.1, CCDS54430.1, CCDS54428.1, CCDS54429.1	2q33	2007-12-07			ENSG00000155754	ENSG00000155754			14438	protein-coding gene	gene with protein product						11586298	Standard	NM_152525		Approved	FLJ25351	uc002uyf.3	Q53TS8	OTTHUMG00000132830	ENST00000286195.3:c.973G>A	2.37:g.202430456C>T	ENSP00000286195:p.Glu325Lys	Somatic		WXS	Illumina HiSeq	Phase_I	C9IZH7|E9PGG4|Q8NCN6|Q96LN4	Missense_Mutation	SNP	ENST00000286195.3	37	CCDS2349.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.216151	0.79352	.	.	ENSG00000155754	ENST00000286195;ENST00000439802;ENST00000439140;ENST00000450242	T;T;T;T	0.44083	0.93;0.93;0.93;0.93	5.64	3.82	0.43975	.	0.863055	0.10117	N	0.713897	T	0.46541	0.1398	L	0.59436	1.845	0.28467	N	0.9156	P;P;P	0.51537	0.946;0.567;0.877	P;B;P	0.48840	0.592;0.226;0.45	T	0.28808	-1.0032	10	0.37606	T	0.19	.	8.6882	0.34251	0.0:0.7661:0.1525:0.0815	.	325;325;325	Q53TS8-2;E9PGG4;Q53TS8	.;.;AL2SA_HUMAN	K	325	ENSP00000286195:E325K;ENSP00000400672:E325K;ENSP00000409937:E325K;ENSP00000399016:E325K	ENSP00000286195:E325K	E	-	1	0	ALS2CR11	202138701	0.966000	0.33281	0.998000	0.56505	0.875000	0.50365	1.152000	0.31663	0.711000	0.32018	0.563000	0.77884	GAA		0.368	ALS2CR11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000256296.2		NM_152525	
ANKRD55	79722	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	55407417	55407417	+	Silent	SNP	A	A	G			TCGA-A3-3308-01A-01D-0966-08	TCGA-A3-3308-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f89396-6b77-4592-908c-39cc24a829da	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr5:55407417A>G	ENST00000341048.4	-	10	1309	c.1158T>C	c.(1156-1158)gaT>gaC	p.D386D	ANKRD55_ENST00000504958.2_Silent_p.D343D|ANKRD55_ENST00000434982.2_Silent_p.D98D|ANKRD55_ENST00000505970.2_5'UTR	NM_024669.2	NP_078945.2	Q3KP44	ANR55_HUMAN	ankyrin repeat domain 55	386										breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(17)|ovary(1)|prostate(1)|skin(2)|stomach(1)	34		Lung NSC(810;8.69e-05)|Prostate(74;0.00634)|Breast(144;0.0334)|Ovarian(174;0.223)				CCACGATGCTATCAAAGGTGG	0.463																																																	0													298.0	287.0	291.0					5																	55407417		2203	4300	6503	SO:0001819	synonymous_variant	79722			AK021857	CCDS34161.1	5q11.2	2013-01-10			ENSG00000164512	ENSG00000164512		"""Ankyrin repeat domain containing"""	25681	protein-coding gene	gene with protein product		615189					Standard	XM_005248599		Approved	FLJ11795	uc003jqu.3	Q3KP44	OTTHUMG00000162305	ENST00000341048.4:c.1158T>C	5.37:g.55407417A>G		Somatic		WXS	Illumina HiSeq	Phase_I	B3KVT8|Q3KP45|Q9HAD3	Silent	SNP	ENST00000341048.4	37	CCDS34161.1	.	.	.	.	.	.	.	.	.	.	.	9.437	1.087067	0.20390	.	.	ENSG00000164512	ENST00000505970	.	.	.	5.59	4.72	0.59763	.	.	.	.	.	T	0.65344	0.2682	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.68254	-0.5457	5	0.87932	D	0	.	8.683	0.34221	0.2478:0.0:0.7522:0.0	.	.	.	.	T	131	.	ENSP00000422370:I131T	I	-	2	0	ANKRD55	55443174	1.000000	0.71417	0.998000	0.56505	0.826000	0.46750	3.206000	0.51098	1.489000	0.48450	-0.248000	0.11899	ATA		0.463	ANKRD55-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368510.4		NM_024669	
ASB10	136371	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	150873237	150873237	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3308-01A-01D-0966-08	TCGA-A3-3308-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f89396-6b77-4592-908c-39cc24a829da	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr7:150873237G>A	ENST00000420175.2	-	5	1390	c.1366C>T	c.(1366-1368)Cgc>Tgc	p.R456C	ASB10_ENST00000422024.1_Missense_Mutation_p.R501C|GBX1_ENST00000475831.1_5'Flank|ASB10_ENST00000275838.1_Missense_Mutation_p.R418C|ASB10_ENST00000434669.1_Missense_Mutation_p.R463C|ASB10_ENST00000377867.3_Missense_Mutation_p.R441C			Q8WXI3	ASB10_HUMAN	ankyrin repeat and SOCS box containing 10	456	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|endometrium(2)|lung(7)|skin(2)	12			OV - Ovarian serous cystadenocarcinoma(82;0.00448)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGCAGGTAGCGGAGCAGGCGC	0.667																																																	0													24.0	26.0	26.0					7																	150873237		2198	4291	6489	SO:0001583	missense	136371			AK055536	CCDS5921.2, CCDS47749.1, CCDS47750.1, CCDS47749.2, CCDS47750.2	7q35	2014-02-04	2011-01-25		ENSG00000146926	ENSG00000146926		"""Ankyrin repeat domain containing"""	17185	protein-coding gene	gene with protein product		615054	"""ankyrin repeat and SOCS box-containing 10"", ""glaucoma 1, open angle, F (adult-onset)"""	GLC1F		22156576	Standard	NM_080871		Approved		uc003wjm.1	Q8WXI3	OTTHUMG00000157013	ENST00000420175.2:c.1366C>T	7.37:g.150873237G>A	ENSP00000391137:p.Arg456Cys	Somatic		WXS	Illumina HiSeq	Phase_I	A0AVH0|Q6ZUL6	Missense_Mutation	SNP	ENST00000420175.2	37	CCDS47750.2	.	.	.	.	.	.	.	.	.	.	G	19.28	3.797970	0.70567	.	.	ENSG00000146926	ENST00000275838;ENST00000377867;ENST00000422024;ENST00000434669;ENST00000420175	T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84	4.73	3.81	0.43845	SOCS protein, C-terminal (3);	0.176792	0.50627	D	0.000110	T	0.67906	0.2943	M	0.80982	2.52	0.48185	D	0.999601	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.75484	0.972;0.986;0.98	T	0.73113	-0.4085	10	0.72032	D	0.01	-11.9059	12.7469	0.57285	0.0:0.3111:0.6889:0.0	.	441;456;463	Q8WXI3-3;Q8WXI3;D5MNW9	.;ASB10_HUMAN;.	C	418;441;501;463;456	ENSP00000275838:R418C;ENSP00000367098:R441C;ENSP00000401369:R501C;ENSP00000398247:R463C;ENSP00000391137:R456C	ENSP00000275838:R418C	R	-	1	0	ASB10	150504170	1.000000	0.71417	1.000000	0.80357	0.816000	0.46133	2.684000	0.46951	2.176000	0.68965	0.655000	0.94253	CGC		0.667	ASB10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347096.3		NM_080871	
ASPM	259266	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	197093276	197093276	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01D-0966-08	TCGA-A3-3308-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f89396-6b77-4592-908c-39cc24a829da	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:197093276A>T	ENST00000367409.4	-	13	3610	c.3354T>A	c.(3352-3354)gaT>gaA	p.D1118E	ASPM_ENST00000367408.1_Missense_Mutation_p.D368E|ASPM_ENST00000294732.7_Missense_Mutation_p.D1118E	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	1118	CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						CATTTACCCAATCCATCAATA	0.274																																																	0													93.0	93.0	93.0					1																	197093276		2202	4288	6490	SO:0001583	missense	259266			AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.3354T>A	1.37:g.197093276A>T	ENSP00000356379:p.Asp1118Glu	Somatic		WXS	Illumina HiSeq	Phase_I	Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	A	13.37	2.217878	0.39201	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367408	T;T;T	0.58652	0.32;0.32;0.32	5.62	-11.2	0.00127	Calponin homology domain (4);	0.472699	0.21551	N	0.072723	T	0.22936	0.0554	N	0.21194	0.64	0.24000	N	0.99622	B;P	0.40660	0.022;0.726	B;B	0.32583	0.007;0.148	T	0.19257	-1.0311	10	0.26408	T	0.33	.	4.0278	0.09695	0.2166:0.3492:0.3133:0.1208	.	1118;1118	Q4G1H1;Q8IZT6	.;ASPM_HUMAN	E	1118;1118;368	ENSP00000356379:D1118E;ENSP00000294732:D1118E;ENSP00000356378:D368E	ENSP00000294732:D1118E	D	-	3	2	ASPM	195359899	0.186000	0.23225	0.465000	0.27155	0.999000	0.98932	-0.405000	0.07196	-2.134000	0.00812	0.528000	0.53228	GAT		0.274	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1		NM_018136	
BRCA2	675	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	32944606	32944606	+	Missense_Mutation	SNP	C	C	G	rs80359087		TCGA-A3-3308-01A-01D-0966-08	TCGA-A3-3308-11A-01D-0966-08	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	30f89396-6b77-4592-908c-39cc24a829da	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr13:32944606C>G	ENST00000380152.3	+	19	8632	c.8399C>G	c.(8398-8400)cCt>cGt	p.P2800R	BRCA2_ENST00000544455.1_Missense_Mutation_p.P2800R			P51587	BRCA2_HUMAN	breast cancer 2, early onset	2800					brain development (GO:0007420)|cell aging (GO:0007569)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|female gonad development (GO:0008585)|hemopoiesis (GO:0030097)|histone H3 acetylation (GO:0043966)|histone H4 acetylation (GO:0043967)|inner cell mass cell proliferation (GO:0001833)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|male meiosis I (GO:0007141)|negative regulation of mammary gland epithelial cell proliferation (GO:0033600)|nucleotide-excision repair (GO:0006289)|oocyte maturation (GO:0001556)|positive regulation of mitotic cell cycle (GO:0045931)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cytokinesis (GO:0032465)|replication fork protection (GO:0048478)|response to gamma radiation (GO:0010332)|response to UV-C (GO:0010225)|response to X-ray (GO:0010165)|spermatogenesis (GO:0007283)	BRCA2-MAGE-D1 complex (GO:0033593)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)|secretory granule (GO:0030141)	gamma-tubulin binding (GO:0043015)|H3 histone acetyltransferase activity (GO:0010484)|H4 histone acetyltransferase activity (GO:0010485)|protease binding (GO:0002020)|single-stranded DNA binding (GO:0003697)			NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183		Lung SC(185;0.0262)		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)		GACCCTAGACCTTTTCCTCTG	0.383			"""D, Mis, N, F, S"""		"""breast, ovarian, pancreatic"""	"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""		Homologous recombination	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia	TCGA Ovarian(8;0.087)																											Esophageal Squamous(138;838 1285 7957 30353 30468 36915 49332)		yes	Rec	yes	Hereditary breast/ovarian cancer	13	13q12	675	familial breast/ovarian cancer gene 2		"""L, E"""	0													174.0	162.0	166.0					13																	32944606		2203	4300	6503	SO:0001583	missense	675	Familial Cancer Database	incl.: Hereditary Pancreatic Adenocarcinoma, Insulin-Dependent Diabetes Mellitus - Exocrine Insufficiency - Familial Pancreatic Cancer, PNCA1;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;HPC; ;FANCD1;Pancytopenia Dysmelia, FA (several complementation groups)	U43746	CCDS9344.1	13q12-q13	2014-09-17	2003-10-14		ENSG00000139618	ENSG00000139618		"""Fanconi anemia, complementation groups"""	1101	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-containing complex, subunit 2"""	600185	"""Fanconi anemia, complementation group D1"""	FANCD1, FACD, FANCD		8091231, 7581463, 15057823	Standard	NM_000059		Approved	FAD, FAD1, BRCC2	uc001uub.1	P51587	OTTHUMG00000017411	ENST00000380152.3:c.8399C>G	13.37:g.32944606C>G	ENSP00000369497:p.Pro2800Arg	Somatic		WXS	Illumina HiSeq	Phase_I	O00183|O15008|Q13879|Q5TBJ7	Missense_Mutation	SNP	ENST00000380152.3	37	CCDS9344.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.740779	0.89573	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.80909	-1.43;-1.43	5.19	5.19	0.71726	Nucleic acid-binding, OB-fold-like (1);	0.000000	0.85682	D	0.000000	D	0.90995	0.7168	M	0.84948	2.725	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.92372	0.5906	10	0.87932	D	0	.	18.729	0.91728	0.0:1.0:0.0:0.0	.	2800	P51587	BRCA2_HUMAN	R	2800	ENSP00000369497:P2800R;ENSP00000439902:P2800R	ENSP00000369497:P2800R	P	+	2	0	BRCA2	31842606	1.000000	0.71417	0.994000	0.49952	0.985000	0.73830	7.767000	0.85331	2.421000	0.82119	0.555000	0.69702	CCT		0.383	BRCA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046000.2		NM_000059	
C1orf106	55765	hgsc.bcm.edu;ucsc.edu	37	1	200880644	200880647	+	Frame_Shift_Del	DEL	CACT	CACT	-			TCGA-A3-3308-01A-01D-0966-08	TCGA-A3-3308-11A-01D-0966-08	CACT	CACT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f89396-6b77-4592-908c-39cc24a829da	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:200880644_200880647delCACT	ENST00000367342.4	+	9	1478_1481	c.1278_1281delCACT	c.(1276-1281)cccactfs	p.PT426fs	C1orf106_ENST00000413687.2_Frame_Shift_Del_p.PT341fs	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	426										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						GCCGCCGCCCCACTCACTACACGG	0.667																																																	0																																										SO:0001589	frameshift_variant	55765			AK001763	CCDS44292.1	1q32.1	2011-02-15			ENSG00000163362	ENSG00000163362			25599	protein-coding gene	gene with protein product						14702039	Standard	NM_018265		Approved	FLJ10901	uc001gvo.4	Q3KP66	OTTHUMG00000035789	ENST00000367342.4:c.1278_1281delCACT	1.37:g.200880648_200880651delCACT	ENSP00000356311:p.Pro426fs	Somatic		WXS	Illumina HiSeq	Phase_I	B4E1K9|E9PFY0|Q9NV65|Q9NVI0	Frame_Shift_Del	DEL	ENST00000367342.4	37																																																																																					0.667	C1orf106-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000087057.2		NM_018265	
SWT1	54823	hgsc.bcm.edu;ucsc.edu	37	1	185171842	185171844	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-A3-3308-01A-01D-0966-08	TCGA-A3-3308-11A-01D-0966-08	AAG	AAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f89396-6b77-4592-908c-39cc24a829da	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:185171842_185171844delAAG	ENST00000367500.4	+	11	1745_1747	c.1580_1582delAAG	c.(1579-1584)aaagaa>aaa	p.E529del	SWT1_ENST00000367501.3_In_Frame_Del_p.E529del	NM_017673.6	NP_060143.4	Q5T5J6	SWT1_HUMAN	SWT1 RNA endoribonuclease homolog (S. cerevisiae)	529										breast(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(11)|liver(1)|lung(16)|ovary(1)|prostate(1)|urinary_tract(1)	41						TCACTCAGTAAAGAAGAATTGAG	0.365																																																	0																																										SO:0001651	inframe_deletion	0			AF288392	CCDS1367.1	1q25	2013-08-29	2011-01-24	2011-01-24	ENSG00000116668	ENSG00000116668			16785	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 26"""	C1orf26		11318611, 19127978, 23768067	Standard	NM_017673		Approved	FLJ20121, HsSwt1	uc001grg.4	Q5T5J6	OTTHUMG00000035390	ENST00000367500.4:c.1580_1582delAAG	1.37:g.185171845_185171847delAAG	ENSP00000356470:p.Glu529del	Somatic		WXS	Illumina HiSeq	Phase_I	Q8NEK9|Q9BZQ7|Q9NXQ0	In_Frame_Del	DEL	ENST00000367500.4	37	CCDS1367.1																																																																																				0.365	SWT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085790.1		NM_017673	
CACNA1H	8912	broad.mit.edu;hgsc.bcm.edu	37	16	1254064	1254064	+	Missense_Mutation	SNP	C	C	T	rs145376050	byFrequency	TCGA-A3-3308-01A-01D-0966-08	TCGA-A3-3308-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f89396-6b77-4592-908c-39cc24a829da	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr16:1254064C>T	ENST00000348261.5	+	10	2305	c.2057C>T	c.(2056-2058)cCc>cTc	p.P686L	CACNA1H_ENST00000358590.4_Missense_Mutation_p.P686L|CACNA1H_ENST00000565831.1_Missense_Mutation_p.P686L|RP11-616M22.3_ENST00000564700.1_RNA	NM_021098.2	NP_066921.2	O95180	CAC1H_HUMAN	calcium channel, voltage-dependent, T type, alpha 1H subunit	686					aldosterone biosynthetic process (GO:0032342)|axon guidance (GO:0007411)|calcium ion import (GO:0070509)|cellular response to hormone stimulus (GO:0032870)|cellular response to potassium ion (GO:0035865)|cortisol biosynthetic process (GO:0034651)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|muscle organ development (GO:0007517)|myoblast fusion (GO:0007520)|positive regulation of acrosome reaction (GO:2000344)|regulation of heart contraction (GO:0008016)|regulation of membrane potential (GO:0042391)|transport (GO:0006810)	caveola (GO:0005901)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|voltage-gated calcium channel complex (GO:0005891)	low voltage-gated calcium channel activity (GO:0008332)|metal ion binding (GO:0046872)|scaffold protein binding (GO:0097110)			breast(4)|endometrium(5)|kidney(2)|lung(23)	34		Hepatocellular(780;0.00369)			Amiodarone(DB01118)|Bepridil(DB01244)|Cinnarizine(DB00568)|Felodipine(DB01023)|Flunarizine(DB04841)|Isradipine(DB00270)|Nifedipine(DB01115)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Zonisamide(DB00909)	TGCCCCCTGCCCAGCCCCCCA	0.701													C|||	7	0.00139776	0.0	0.0014	5008	,	,		14466	0.0		0.006	False		,,,				2504	0.0																0								C	LEU/PRO,LEU/PRO	1,3833		0,1,1916	8.0	10.0	9.0		2057,2057	4.1	1.0	16	dbSNP_134	9	9,8195		0,9,4093	yes	missense,missense	CACNA1H	NM_001005407.1,NM_021098.2	98,98	0,10,6009	TT,TC,CC		0.1097,0.0261,0.0831	probably-damaging,probably-damaging	686/2348,686/2354	1254064	10,12028	1917	4102	6019	SO:0001583	missense	8912			AL031703	CCDS45375.1, CCDS45376.1	16p13.3	2012-03-07	2007-02-16					"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1395	protein-coding gene	gene with protein product		607904				9670923, 16382099	Standard	NM_021098		Approved	Cav3.2	uc002cks.3	O95180		ENST00000348261.5:c.2057C>T	16.37:g.1254064C>T	ENSP00000334198:p.Pro686Leu	Somatic		WXS	Illumina HiSeq	Phase_I	B5ME00|F8WFD1|O95802|Q8WWI6|Q96QI6|Q96RZ9|Q9NYY4|Q9NYY5	Missense_Mutation	SNP	ENST00000348261.5	37	CCDS45375.1	4	0.0018315018315018315	0	0.0	1	0.0027624309392265192	0	0.0	3	0.00395778364116095	C	15.89	2.965415	0.53507	2.61E-4	0.001097	ENSG00000196557	ENST00000348261;ENST00000358590	D;D	0.96396	-4.0;-3.95	4.05	4.05	0.47172	.	0.785431	0.10696	U	0.644627	D	0.95526	0.8546	L	0.48642	1.525	0.42385	D	0.992503	D;D	0.53462	0.96;0.958	P;P	0.49252	0.574;0.604	D	0.93067	0.6479	10	0.30854	T	0.27	.	15.3789	0.74637	0.0:1.0:0.0:0.0	.	686;686	O95180-2;O95180	.;CAC1H_HUMAN	L	686	ENSP00000334198:P686L;ENSP00000351401:P686L	ENSP00000334198:P686L	P	+	2	0	CACNA1H	1194065	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	3.108000	0.50337	2.114000	0.64651	0.561000	0.74099	CCC		0.701	CACNA1H-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421601.1		NM_001005407	
CCDC163P	126661	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	45962262	45962262	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3308-01A-01D-0966-08	TCGA-A3-3308-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f89396-6b77-4592-908c-39cc24a829da	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:45962262G>C	ENST00000432082.1	-	4	660	c.296C>G	c.(295-297)gCt>gGt	p.A99G	CCDC163P_ENST00000488405.2_Missense_Mutation_p.A99G|CCDC163P_ENST00000502793.2_5'UTR|CCDC163P_ENST00000490551.3_Missense_Mutation_p.A99G					coiled-coil domain containing 163, pseudogene											cervix(1)|endometrium(1)	2						TCGTCCCTCAGCCAGCTGTTT	0.527																																																	0													57.0	63.0	61.0					1																	45962262		2004	4175	6179	SO:0001583	missense	126661			BC047421		1p34.1	2010-06-14	2009-12-17	2009-12-17	ENSG00000236624	ENSG00000236624			27003	pseudogene	pseudogene			"""chromosome 1 open reading frame 231"""	C1orf231		18672041	Standard	NR_033296		Approved	LOC126661	uc001cnw.3		OTTHUMG00000007741	ENST00000432082.1:c.296C>G	1.37:g.45962262G>C	ENSP00000435596:p.Ala99Gly	Somatic		WXS	Illumina HiSeq	Phase_I		RNA	SNP	ENST00000432082.1	37		.	.	.	.	.	.	.	.	.	.	G	15.70	2.909948	0.52439	.	.	ENSG00000236624	ENST00000490551;ENST00000432082;ENST00000488405	.	.	.	5.12	5.12	0.69794	.	.	.	.	.	T	0.57417	0.2052	.	.	.	0.30675	N	0.752961	P;P	0.49961	0.93;0.93	P;P	0.52823	0.71;0.71	T	0.60219	-0.7306	7	0.56958	D	0.05	.	14.239	0.65945	0.0:0.0:1.0:0.0	.	99;99	E9PLD6;F2Z3K3	.;.	G	99	.	ENSP00000431736:A99G	A	-	2	0	CCDC163P	45734849	1.000000	0.71417	0.604000	0.28916	0.062000	0.15995	4.082000	0.57635	2.823000	0.97156	0.637000	0.83480	GCT		0.527	CCDC163P-006	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000349850.4		NM_001102601	
EFCC1	79825	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	128757716	128757716	+	Silent	SNP	C	C	T			TCGA-A3-3308-01A-01D-0966-08	TCGA-A3-3308-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f89396-6b77-4592-908c-39cc24a829da	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr3:128757716C>T	ENST00000480450.1	+	7	1633	c.1633C>T	c.(1633-1635)Ctg>Ttg	p.L545L	EFCC1_ENST00000436022.2_Silent_p.L108L			Q9HA90	EFCC1_HUMAN	EF-hand and coiled-coil domain containing 1	545							calcium ion binding (GO:0005509)										GCTGAGCACGCTGGACGCTTT	0.547																																																	0													87.0	93.0	91.0					3																	128757716		2203	4300	6503	SO:0001819	synonymous_variant	0			AK022119	CCDS3054.1, CCDS3054.2	3q21.3	2013-01-11	2013-01-11	2013-01-11	ENSG00000114654	ENSG00000114654		"""EF-hand domain containing"""	25692	protein-coding gene	gene with protein product			"""chromosome 3 open reading frame 73"", ""coiled-coil domain containing 48"""	C3orf73, CCDC48			Standard	NM_024768		Approved	FLJ12057	uc011bkt.2	Q9HA90	OTTHUMG00000158996	ENST00000480450.1:c.1633C>T	3.37:g.128757716C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A8MYE2	Silent	SNP	ENST00000480450.1	37	CCDS3054.2																																																																																				0.547	EFCC1-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000352832.1		NM_024768	
CCDC57	284001	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	80156290	80156290	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3308-01A-01D-0966-08	TCGA-A3-3308-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f89396-6b77-4592-908c-39cc24a829da	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr17:80156290T>C	ENST00000389641.4	-	3	452	c.416A>G	c.(415-417)aAt>aGt	p.N139S	CCDC57_ENST00000392343.3_Missense_Mutation_p.N139S|CCDC57_ENST00000392347.1_Missense_Mutation_p.N139S			Q2TAC2	CCD57_HUMAN	coiled-coil domain containing 57	139										endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	16	Breast(20;0.00285)|all_neural(118;0.0878)|all_lung(278;0.0949)|Lung NSC(278;0.128)|Ovarian(332;0.227)		BRCA - Breast invasive adenocarcinoma(99;0.0232)|OV - Ovarian serous cystadenocarcinoma(97;0.0253)			AATCTCACCATTCTTGTCACT	0.413																																																	0													87.0	84.0	85.0					17																	80156290		1865	4104	5969	SO:0001583	missense	284001			BC040264		17q25.3	2006-03-08			ENSG00000176155	ENSG00000176155			27564	protein-coding gene	gene with protein product						12477932	Standard	XM_006722279		Approved	FLJ00130, FLJ23754	uc002kdx.1	Q2TAC2	OTTHUMG00000140396	ENST00000389641.4:c.416A>G	17.37:g.80156290T>C	ENSP00000374292:p.Asn139Ser	Somatic		WXS	Illumina HiSeq	Phase_I	A6NP51|A8MQC7|Q8IWG2|Q8TER3	Missense_Mutation	SNP	ENST00000389641.4	37		.	.	.	.	.	.	.	.	.	.	T	11.95	1.791993	0.31685	.	.	ENSG00000176155	ENST00000389641;ENST00000392347;ENST00000392343	T;T;T	0.25579	2.97;2.97;1.79	4.96	3.89	0.44902	.	0.135877	0.48767	D	0.000179	T	0.29588	0.0738	L	0.59436	1.845	0.80722	D	1	P;P	0.52316	0.952;0.873	P;B	0.48488	0.579;0.412	T	0.02560	-1.1141	10	0.30078	T	0.28	-24.0588	8.7031	0.34338	0.0:0.0921:0.0:0.9079	.	139;139	Q2TAC2-2;Q2TAC2	.;CCD57_HUMAN	S	139	ENSP00000374292:N139S;ENSP00000376158:N139S;ENSP00000376154:N139S	ENSP00000374292:N139S	N	-	2	0	CCDC57	77749579	0.832000	0.29368	0.728000	0.30774	0.855000	0.48748	1.290000	0.33319	0.746000	0.32786	0.459000	0.35465	AAT		0.413	CCDC57-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000277182.3		NM_198082	
CCDC59	29080	broad.mit.edu;hgsc.bcm.edu	37	12	82746875	82746875	+	3'UTR	SNP	T	T	A	rs577119264		TCGA-A3-3308-01A-01D-0966-08	TCGA-A3-3308-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f89396-6b77-4592-908c-39cc24a829da	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr12:82746875T>A	ENST00000256151.7	-	0	1192				CCDC59_ENST00000548126.1_5'UTR	NM_014167.4	NP_054886.2	Q9P031	TAP26_HUMAN	coiled-coil domain containing 59						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)	5						GGGAGGCACATGTCACAGAAG	0.308																																																	0																																										SO:0001624	3_prime_UTR_variant	29080			AF213377	CCDS9023.1	12q21.31	2007-10-17				ENSG00000133773			25005	protein-coding gene	gene with protein product						16630564, 12882447	Standard	NM_014167		Approved	HSPC128, TAP26, BR22	uc001szp.4	Q9P031		ENST00000256151.7:c.*55A>T	12.37:g.82746875T>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q9H2V5|Q9NW62	RNA	SNP	ENST00000256151.7	37	CCDS9023.1																																																																																				0.308	CCDC59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408186.1		NM_014167	
CCDC60	160777	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	119909965	119909965	+	Silent	SNP	T	T	C	rs139079166	byFrequency	TCGA-A3-3308-01A-01D-0966-08	TCGA-A3-3308-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f89396-6b77-4592-908c-39cc24a829da	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr12:119909965T>C	ENST00000327554.2	+	3	802	c.337T>C	c.(337-339)Ttg>Ctg	p.L113L	CCDC60_ENST00000546345.1_3'UTR|RP11-768F21.1_ENST00000509470.2_lincRNA	NM_178499.3	NP_848594.2	Q8IWA6	CCD60_HUMAN	coiled-coil domain containing 60	113										endometrium(4)|kidney(3)|large_intestine(8)|lung(15)|ovary(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.207)		GGACACCTTATTGAGGTAAGT	0.458																																																	0								T		6,4400	11.4+/-27.6	0,6,2197	172.0	177.0	175.0		337	-6.1	0.0	12	dbSNP_134	175	0,8600		0,0,4300	no	coding-synonymous	CCDC60	NM_178499.3		0,6,6497	CC,CT,TT		0.0,0.1362,0.0461		113/551	119909965	6,13000	2203	4300	6503	SO:0001819	synonymous_variant	160777			BC040553	CCDS9190.1	12q24.23	2006-02-03			ENSG00000183273	ENSG00000183273			28610	protein-coding gene	gene with protein product						12477932	Standard	NM_178499		Approved	MGC39827	uc001txe.3	Q8IWA6	OTTHUMG00000168943	ENST00000327554.2:c.337T>C	12.37:g.119909965T>C		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000327554.2	37	CCDS9190.1																																																																																				0.458	CCDC60-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401680.1		NM_178499	
CDCP2	200008	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	54610216	54610216	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3308-01A-01D-0966-08	TCGA-A3-3308-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f89396-6b77-4592-908c-39cc24a829da	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:54610216G>A	ENST00000371330.1	-	2	1197	c.350C>T	c.(349-351)tCc>tTc	p.S117F	RP11-446E24.4_ENST00000311841.7_3'UTR|RP11-446E24.4_ENST00000525949.1_Intron	NM_201546.2	NP_963840.2	Q5VXM1	CDCP2_HUMAN	CUB domain containing protein 2	117	CUB 1. {ECO:0000255|PROSITE- ProRule:PRU00059}.					extracellular region (GO:0005576)				kidney(1)|large_intestine(6)|lung(13)|ovary(1)|prostate(2)|stomach(1)	24						GACATGCCAGGAGGAGGTGAA	0.602																																																	0													58.0	57.0	57.0					1																	54610216		2203	4300	6503	SO:0001583	missense	200008				CCDS588.2	1p32.3	2011-02-10			ENSG00000157211	ENSG00000157211			27297	protein-coding gene	gene with protein product		612320				12477932	Standard	NM_201546		Approved		uc001cwv.2	Q5VXM1	OTTHUMG00000155307	ENST00000371330.1:c.350C>T	1.37:g.54610216G>A	ENSP00000360381:p.Ser117Phe	Somatic		WXS	Illumina HiSeq	Phase_I	Q6ZWJ3	Missense_Mutation	SNP	ENST00000371330.1	37	CCDS588.2	.	.	.	.	.	.	.	.	.	.	G	29.5	5.011482	0.93346	.	.	ENSG00000157211	ENST00000371330	T	0.19532	2.14	5.36	5.36	0.76844	CUB (5);	0.144256	0.47852	D	0.000210	T	0.48295	0.1492	M	0.72353	2.195	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	T	0.45512	-0.9256	10	0.56958	D	0.05	-35.5995	19.0949	0.93246	0.0:0.0:1.0:0.0	.	117	Q5VXM1	CDCP2_HUMAN	F	117	ENSP00000360381:S117F	ENSP00000360381:S117F	S	-	2	0	CDCP2	54382804	1.000000	0.71417	0.999000	0.59377	0.928000	0.56348	9.802000	0.99131	2.508000	0.84585	0.591000	0.81541	TCC		0.602	CDCP2-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000022209.2		NM_201546	
CDH6	1004	hgsc.bcm.edu;ucsc.edu	37	5	31305299	31305302	+	Frame_Shift_Del	DEL	AAGA	AAGA	-			TCGA-A3-3308-01A-01D-0966-08	TCGA-A3-3308-11A-01D-0966-08	AAGA	AAGA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f89396-6b77-4592-908c-39cc24a829da	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr5:31305299_31305302delAAGA	ENST00000265071.2	+	7	1283_1286	c.1018_1021delAAGA	c.(1018-1023)aagaaafs	p.KK340fs	CDH6_ENST00000514738.1_Frame_Shift_Del_p.KK285fs	NM_004932.3	NP_004923.1	P55285	CADH6_HUMAN	cadherin 6, type 2, K-cadherin (fetal kidney)	340	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(42)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CTTTGAAAAGAAGAAAGTGTATAC	0.441																																																	0																																										SO:0001589	frameshift_variant	1004			D31784	CCDS3894.1	5p13.3	2010-01-26			ENSG00000113361	ENSG00000113361		"""Cadherins / Major cadherins"""	1765	protein-coding gene	gene with protein product	"""K-Cadherin"""	603007				7743525, 10191097	Standard	NM_004932		Approved		uc003jhe.2	P55285	OTTHUMG00000090673	ENST00000265071.2:c.1018_1021delAAGA	5.37:g.31305299_31305302delAAGA	ENSP00000265071:p.Lys340fs	Somatic		WXS	Illumina HiSeq	Phase_I	A8K5H5|Q9BWS0	Frame_Shift_Del	DEL	ENST00000265071.2	37	CCDS3894.1																																																																																				0.441	CDH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207355.2		NM_004932	
CS	1431	hgsc.bcm.edu	37	12	56676232	56676232	+	Missense_Mutation	SNP	T	T	C	rs77708038		TCGA-A3-3308-01A-01D-0966-08	TCGA-A3-3308-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f89396-6b77-4592-908c-39cc24a829da	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr12:56676232T>C	ENST00000351328.3	-	6	750	c.560A>G	c.(559-561)cAg>cGg	p.Q187R	CS_ENST00000548567.1_Missense_Mutation_p.Q121R|CS_ENST00000542324.2_Missense_Mutation_p.Q174R	NM_004077.2	NP_004068.2	O75390	CISY_HUMAN	citrate synthase	187				Q -> R (in Ref. 1; AAC25560). {ECO:0000305}.	carbohydrate metabolic process (GO:0005975)|cellular carbohydrate metabolic process (GO:0044262)|cellular metabolic process (GO:0044237)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	citrate (Si)-synthase activity (GO:0004108)|poly(A) RNA binding (GO:0044822)			breast(2)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(2)|lung(4)|ovary(1)|skin(1)	17		Myeloproliferative disorder(1001;0.000374)		BRCA - Breast invasive adenocarcinoma(357;6.17e-07)		GCTGATACCCTGTGCATATGC	0.502																																																	0													101.0	76.0	85.0					12																	56676232		2203	4300	6503	SO:0001583	missense	1431				CCDS8913.1	12q13.2	2012-10-02				ENSG00000062485	2.3.3.1		2422	protein-coding gene	gene with protein product		118950					Standard	NM_004077		Approved		uc001sks.1	O75390	OTTHUMG00000170344	ENST00000351328.3:c.560A>G	12.37:g.56676232T>C	ENSP00000342056:p.Gln187Arg	Somatic		WXS	Illumina HiSeq	Phase_I	Q71UT9|Q7KZH0|Q96FZ8|Q9BWN8	Missense_Mutation	SNP	ENST00000351328.3	37	CCDS8913.1	.	.	.	.	.	.	.	.	.	.	T	16.44	3.123447	0.56613	.	.	ENSG00000062485	ENST00000548567;ENST00000351328;ENST00000542324;ENST00000549221;ENST00000546930;ENST00000551936;ENST00000550734;ENST00000551253;ENST00000552688;ENST00000546554	.	.	.	4.79	4.79	0.61399	Citrate synthase-like, large alpha subdomain (1);Citrate synthase-like, core (1);	0.098661	0.64402	D	0.000002	T	0.35158	0.0922	N	0.25245	0.725	0.28067	N	0.932723	B;B;B;B	0.09022	0.002;0.0;0.001;0.001	B;B;B;B	0.12837	0.008;0.003;0.005;0.003	T	0.25984	-1.0116	9	0.42905	T	0.14	-9.4858	14.0038	0.64449	0.0:0.0:0.0:1.0	.	121;174;142;187	B7Z1E1;B4DJV2;B3KTN4;O75390	.;.;.;CISY_HUMAN	R	121;187;174;112;121;121;121;121;151;137	.	ENSP00000342056:Q187R	Q	-	2	0	CS	54962499	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.602000	0.82796	2.094000	0.63399	0.528000	0.53228	CAG		0.502	CS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408588.2		NM_004077	
SLC25A32	81034	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	104427735	104427735	+	5'Flank	SNP	T	T	G			TCGA-A3-3308-01A-01D-0966-08	TCGA-A3-3308-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f89396-6b77-4592-908c-39cc24a829da	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr8:104427735T>G	ENST00000297578.4	-	0	0				DCAF13_ENST00000297579.5_Missense_Mutation_p.L173V|DCAF13_ENST00000521999.1_3'UTR|SLC25A32_ENST00000543107.1_5'Flank|DCAF13_ENST00000519682.1_Missense_Mutation_p.L17V|DCAF13_ENST00000521971.1_Missense_Mutation_p.L17V|DCAF13_ENST00000521716.1_Missense_Mutation_p.L17V	NM_030780.3	NP_110407.2	Q9H2D1	MFTC_HUMAN	solute carrier family 25 (mitochondrial folate carrier), member 32						folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|mitochondrial transport (GO:0006839)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	folic acid transporter activity (GO:0008517)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	9			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		Folic Acid(DB00158)	CAAGTTGGACTTACAGAGAGG	0.567																																																	0													25.0	28.0	27.0					8																	104427735		2201	4300	6501	SO:0001631	upstream_gene_variant	25879			AF283645	CCDS6300.1	8q22.3	2013-05-22	2013-03-15		ENSG00000164933	ENSG00000164933		"""Solute carriers"""	29683	protein-coding gene	gene with protein product		610815	"""solute carrier family 25, member 32"""			10978331	Standard	NM_030780		Approved	MFTC	uc003yll.4	Q9H2D1	OTTHUMG00000164790		8.37:g.104427735T>G	Exception_encountered	Somatic		WXS	Illumina HiSeq	Phase_I	Q96JZ6|Q96SU7	Missense_Mutation	SNP	ENST00000297578.4	37	CCDS6300.1	.	.	.	.	.	.	.	.	.	.	T	12.41	1.930983	0.34096	.	.	ENSG00000164934	ENST00000297579;ENST00000521716;ENST00000521971;ENST00000388778;ENST00000519682	T;T;T;T	0.01359	4.98;4.98;4.98;4.98	4.67	-0.596	0.11657	.	0.374067	0.26390	N	0.024658	T	0.00815	0.0027	N	0.13043	0.29	0.30899	N	0.729525	B	0.15719	0.014	B	0.14023	0.01	T	0.42531	-0.9446	10	0.19590	T	0.45	-3.1328	3.1866	0.06603	0.3548:0.2512:0.0:0.394	.	21	B3KME9	.	V	173;17;17;21;17	ENSP00000297579:L173V;ENSP00000430645:L17V;ENSP00000430883:L17V;ENSP00000430411:L17V	ENSP00000297579:L173V	L	+	1	2	DCAF13	104496911	0.998000	0.40836	0.997000	0.53966	0.988000	0.76386	1.178000	0.31981	0.032000	0.15435	0.533000	0.62120	TTA		0.567	SLC25A32-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380290.2		NM_030780	
CSMD3	114788	broad.mit.edu;hgsc.bcm.edu	37	8	113246594	113246594	+	Splice_Site	SNP	A	A	C			TCGA-A3-3308-01A-01D-0966-08	TCGA-A3-3308-11A-01D-0966-08	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	30f89396-6b77-4592-908c-39cc24a829da	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr8:113246594A>C	ENST00000297405.5	-	68	10984	c.10740T>G	c.(10738-10740)ttT>ttG	p.F3580L	CSMD3_ENST00000352409.3_Splice_Site_p.F3510L|CSMD3_ENST00000455883.2_Splice_Site_p.F3411L|CSMD3_ENST00000343508.3_Splice_Site_p.F3540L	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3580						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						CTATACTTACAAAGCCATCCA	0.343										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																																							0													116.0	115.0	116.0					8																	113246594		2203	4300	6503	SO:0001630	splice_region_variant	114788			AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.10740+1T>G	8.37:g.113246594A>C		Somatic		WXS	Illumina HiSeq	Phase_I	Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	A	19.06	3.752970	0.69648	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.27256	1.98;1.98;2.03;1.68;2.02	5.16	5.16	0.70880	.	0.000000	0.64402	D	0.000001	T	0.41696	0.1170	L	0.51422	1.61	0.58432	D	0.999995	D;D;B	0.63046	0.992;0.987;0.411	P;P;B	0.61275	0.886;0.772;0.176	T	0.12811	-1.0533	9	.	.	.	.	15.1664	0.72828	1.0:0.0:0.0:0.0	.	3411;3580;3540	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	L	3540;3580;2850;3411;3510	ENSP00000345799:F3540L;ENSP00000297405:F3580L;ENSP00000341558:F2850L;ENSP00000412263:F3411L;ENSP00000343124:F3510L	.	F	-	3	2	CSMD3	113315770	1.000000	0.71417	1.000000	0.80357	0.392000	0.30506	6.877000	0.75562	2.173000	0.68751	0.533000	0.62120	TTT		0.343	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1		NM_052900	Missense_Mutation
DERL3	91319	broad.mit.edu;ucsc.edu	37	22	24179339	24179339	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3308-01A-01D-0966-08	TCGA-A3-3308-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f89396-6b77-4592-908c-39cc24a829da	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr22:24179339T>C	ENST00000318109.7	-	6	542	c.526A>G	c.(526-528)Att>Gtt	p.I176V	DERL3_ENST00000404056.1_Missense_Mutation_p.I149V|DERL3_ENST00000476077.1_Missense_Mutation_p.I176V|DERL3_ENST00000464023.1_5'Flank|DERL3_ENST00000406855.3_Missense_Mutation_p.I176V			Q96Q80	DERL3_HUMAN	derlin 3	176					endoplasmic reticulum unfolded protein response (GO:0030968)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|protein N-linked glycosylation via asparagine (GO:0018279)	integral component of endoplasmic reticulum membrane (GO:0030176)				ovary(1)|prostate(1)|skin(1)	3						CCCACCGCAATCCCTGTGAGA	0.632																																																	0													60.0	55.0	56.0					22																	24179339		2203	4300	6503	SO:0001583	missense	91319			AB049213	CCDS33615.1, CCDS42986.1, CCDS46672.1	22q11.23	2012-02-01	2012-02-01	2004-11-02	ENSG00000099958	ENSG00000099958			14236	protein-coding gene	gene with protein product		610305	"""chromosome 22 open reading frame 14"", ""Der1-like domain family, member 3"""	C22orf14		15215855	Standard	NM_198440		Approved	FLJ43842, MGC71803, derlin-3, IZP6	uc002zyk.4	Q96Q80	OTTHUMG00000150743	ENST00000318109.7:c.526A>G	22.37:g.24179339T>C	ENSP00000315303:p.Ile176Val	Somatic		WXS	Illumina GAIIx	Phase_I	F2Z3B6|Q6ICJ6|Q6PEX0|Q6ZUB5	Missense_Mutation	SNP	ENST00000318109.7	37	CCDS33615.1	.	.	.	.	.	.	.	.	.	.	T	12.01	1.809669	0.31961	.	.	ENSG00000099958	ENST00000406855;ENST00000404056;ENST00000318109;ENST00000476077	T;T;T;T	0.34275	2.76;1.37;2.76;2.76	4.63	3.57	0.40892	.	0.293288	0.32836	N	0.005585	T	0.35913	0.0948	L	0.59912	1.85	0.50813	D	0.999899	B;B	0.30889	0.128;0.299	B;B	0.36186	0.098;0.219	T	0.10268	-1.0637	10	0.37606	T	0.19	.	9.7818	0.40653	0.0:0.0833:0.0:0.9167	.	176;176	Q96Q80-2;Q96Q80	.;DERL3_HUMAN	V	176;149;176;176	ENSP00000384744:I176V;ENSP00000384473:I149V;ENSP00000315303:I176V;ENSP00000419399:I176V	ENSP00000315303:I176V	I	-	1	0	DERL3	22509339	1.000000	0.71417	0.759000	0.31340	0.800000	0.45204	4.887000	0.63156	0.725000	0.32318	0.456000	0.33151	ATT		0.632	DERL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319905.1		NM_198440	
EPS8	2059	broad.mit.edu;hgsc.bcm.edu	37	12	15822749	15822749	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3308-01A-01D-0966-08	TCGA-A3-3308-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f89396-6b77-4592-908c-39cc24a829da	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr12:15822749G>A	ENST00000281172.5	-	5	651	c.215C>T	c.(214-216)aCc>aTc	p.T72I	EPS8_ENST00000543612.1_Missense_Mutation_p.T72I|RNU6-251P_ENST00000363235.1_RNA|EPS8_ENST00000543523.1_Missense_Mutation_p.T72I	NM_004447.5	NP_004438.3	Q12929	EPS8_HUMAN	epidermal growth factor receptor pathway substrate 8	72	PH; first part.				actin crosslink formation (GO:0051764)|actin cytoskeleton reorganization (GO:0031532)|actin filament bundle assembly (GO:0051017)|actin polymerization-dependent cell motility (GO:0070358)|adult locomotory behavior (GO:0008344)|barbed-end actin filament capping (GO:0051016)|behavioral response to ethanol (GO:0048149)|cell proliferation (GO:0008283)|dendritic cell migration (GO:0036336)|epidermal growth factor receptor signaling pathway (GO:0007173)|exit from mitosis (GO:0010458)|positive regulation of signal transduction (GO:0009967)|Rac protein signal transduction (GO:0016601)|regulation of actin filament length (GO:0030832)|regulation of cell shape (GO:0008360)|signal transduction (GO:0007165)	cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|postsynaptic density (GO:0014069)|ruffle membrane (GO:0032587)|stereocilium (GO:0032420)|vesicle (GO:0031982)	actin binding (GO:0003779)|Rac GTPase binding (GO:0048365)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(9)|ovary(3)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	33		all_epithelial(100;1.87e-05)|Breast(259;0.000286)|Hepatocellular(102;0.244)		BRCA - Breast invasive adenocarcinoma(232;4.29e-05)|GBM - Glioblastoma multiforme(207;0.0264)		CAGGACAAAGGTAGTCAAGTG	0.348																																																	0													83.0	69.0	74.0					12																	15822749		2203	4300	6503	SO:0001583	missense	2059			U12535	CCDS31753.1	12p12.3	2008-05-02				ENSG00000151491			3420	protein-coding gene	gene with protein product		600206				8084614	Standard	NM_004447		Approved		uc001rdb.3	Q12929		ENST00000281172.5:c.215C>T	12.37:g.15822749G>A	ENSP00000281172:p.Thr72Ile	Somatic		WXS	Illumina HiSeq	Phase_I	A6NMC3|A8K6W2|A8KA66|B4DX66|Q8N6J0	Missense_Mutation	SNP	ENST00000281172.5	37	CCDS31753.1	.	.	.	.	.	.	.	.	.	.	G	18.17	3.564205	0.65651	.	.	ENSG00000151491	ENST00000543523;ENST00000281172;ENST00000543612;ENST00000543223;ENST00000546311;ENST00000535752	T;T;T;T;T	0.41065	1.01;1.01;1.01;1.01;1.01	4.84	4.84	0.62591	Phosphotyrosine interaction domain (1);Pleckstrin homology-type (1);Tensin phosphotyrosine-binding domain (1);	0.000000	0.85682	D	0.000000	T	0.68961	0.3058	M	0.86864	2.845	0.80722	D	1	D	0.54397	0.966	D	0.64687	0.928	T	0.76206	-0.3044	10	0.87932	D	0	-16.115	18.3073	0.90187	0.0:0.0:1.0:0.0	.	72	Q12929	EPS8_HUMAN	I	72	ENSP00000441867:T72I;ENSP00000281172:T72I;ENSP00000442388:T72I;ENSP00000445235:T72I;ENSP00000440591:T72I	ENSP00000281172:T72I	T	-	2	0	EPS8	15714016	1.000000	0.71417	1.000000	0.80357	0.551000	0.35334	9.807000	0.99171	2.383000	0.81215	0.650000	0.86243	ACC		0.348	EPS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401093.1			
ERO1L	30001	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	53118958	53118958	+	Splice_Site	SNP	T	T	G			TCGA-A3-3308-01A-01D-0966-08	TCGA-A3-3308-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f89396-6b77-4592-908c-39cc24a829da	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr14:53118958T>G	ENST00000395686.3	-	13	1347	c.1124A>C	c.(1123-1125)aAg>aCg	p.K375T		NM_014584.1	NP_055399.1	Q96HE7	ERO1A_HUMAN	ERO1-like (S. cerevisiae)	375					4-hydroxyproline metabolic process (GO:0019471)|brown fat cell differentiation (GO:0050873)|cell redox homeostasis (GO:0045454)|cellular protein metabolic process (GO:0044267)|cellular protein modification process (GO:0006464)|chaperone mediated protein folding requiring cofactor (GO:0051085)|endoplasmic reticulum unfolded protein response (GO:0030968)|extracellular matrix organization (GO:0030198)|intrinsic apoptotic signaling pathway in response to endoplasmic reticulum stress (GO:0070059)|protein folding (GO:0006457)|protein maturation by protein folding (GO:0022417)|release of sequestered calcium ion into cytosol (GO:0051209)|response to endoplasmic reticulum stress (GO:0034976)|response to temperature stimulus (GO:0009266)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	oxidoreductase activity (GO:0016491)|oxidoreductase activity, acting on a sulfur group of donors, disulfide as acceptor (GO:0016671)|protein disulfide isomerase activity (GO:0003756)|protein disulfide oxidoreductase activity (GO:0015035)		ERO1L/FERMT2(2)	breast(1)|endometrium(1)|large_intestine(3)|lung(5)|ovary(1)|urinary_tract(1)	12	Breast(41;0.226)					AGTAATTACCTTTAGTTTGTG	0.303																																																	0													100.0	97.0	98.0					14																	53118958		2203	4300	6503	SO:0001630	splice_region_variant	30001			AF081886	CCDS9709.1	14q22.1	2010-10-06	2001-11-28		ENSG00000197930	ENSG00000197930			13280	protein-coding gene	gene with protein product		615435	"""ERO1 (S. cerevisiae)-like"""			10671517	Standard	NM_014584		Approved	ERO1A, ERO1-alpha	uc001wzv.3	Q96HE7	OTTHUMG00000140301	ENST00000395686.3:c.1125+1A>C	14.37:g.53118958T>G		Somatic		WXS	Illumina HiSeq	Phase_I	A8K9X4|A8MYW1|Q7LD45|Q9P1Q9|Q9UKV6	Missense_Mutation	SNP	ENST00000395686.3	37	CCDS9709.1	.	.	.	.	.	.	.	.	.	.	T	23.3	4.402558	0.83230	.	.	ENSG00000197930	ENST00000395686;ENST00000556358	T;T	0.50813	0.73;0.73	4.92	4.92	0.64577	.	0.000000	0.85682	D	0.000000	T	0.78259	0.4255	H	0.96015	3.755	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.85802	0.1374	10	0.87932	D	0	-16.6505	14.8655	0.70412	0.0:0.0:0.0:1.0	.	375	Q96HE7	ERO1A_HUMAN	T	375;34	ENSP00000379042:K375T;ENSP00000450655:K34T	ENSP00000379042:K375T	K	-	2	0	ERO1L	52188708	1.000000	0.71417	1.000000	0.80357	0.957000	0.61999	7.485000	0.81204	1.967000	0.57214	0.402000	0.26972	AAG		0.303	ERO1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276892.1		NM_014584	Missense_Mutation
EXOSC10	5394	hgsc.bcm.edu;ucsc.edu	37	1	11155902	11155902	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3308-01A-01D-0966-08	TCGA-A3-3308-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f89396-6b77-4592-908c-39cc24a829da	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:11155902delG	ENST00000376936.4	-	3	334	c.285delC	c.(283-285)agcfs	p.S95fs	EXOSC10_ENST00000304457.7_Frame_Shift_Del_p.S95fs|EXOSC10_ENST00000544779.1_Frame_Shift_Del_p.S95fs	NM_001001998.1	NP_001001998.1	Q01780	EXOSX_HUMAN	exosome component 10	95					CUT catabolic process (GO:0071034)|dosage compensation by inactivation of X chromosome (GO:0009048)|histone mRNA catabolic process (GO:0071044)|maturation of 5.8S rRNA (GO:0000460)|nuclear mRNA surveillance (GO:0071028)|nuclear polyadenylation-dependent rRNA catabolic process (GO:0071035)|nuclear retention of unspliced pre-mRNA at the site of transcription (GO:0071048)|nuclear-transcribed mRNA catabolic process (GO:0000956)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)	cytoplasm (GO:0005737)|exosome (RNase complex) (GO:0000178)|membrane (GO:0016020)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	3'-5' exonuclease activity (GO:0008408)|exoribonuclease activity (GO:0004532)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(9)|prostate(1)|stomach(3)|upper_aerodigestive_tract(1)	27	Ovarian(185;0.249)	Lung NSC(185;1.74e-05)|all_lung(284;2.05e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00262)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;4.18e-07)|COAD - Colon adenocarcinoma(227;8.33e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000315)|Kidney(185;0.000832)|KIRC - Kidney renal clear cell carcinoma(229;0.00269)|READ - Rectum adenocarcinoma(331;0.0526)|STAD - Stomach adenocarcinoma(313;0.202)		CCTTAATGTTGCTGCGACACC	0.393																																					Colon(179;105 1987 14326 27364 29542)												0													289.0	258.0	269.0					1																	11155902		2203	4300	6503	SO:0001589	frameshift_variant	5394			BC073788	CCDS126.1, CCDS30584.1	1p36.22	2008-02-05	2004-06-16	2004-06-18	ENSG00000171824	ENSG00000171824			9138	protein-coding gene	gene with protein product	"""polymyositis/scleroderma autoantigen 2 (100kD)"""	605960	"""polymyositis/scleroderma autoantigen 2, 100kDa"""	PMSCL2		1383382, 1644924	Standard	NM_001001998		Approved	PM-Scl, PM/Scl-100, Rrp6p, RRP6, p2, p3, p4	uc001asa.3	Q01780	OTTHUMG00000002123	ENST00000376936.4:c.285delC	1.37:g.11155902delG	ENSP00000366135:p.Ser95fs	Somatic		WXS	Illumina HiSeq	Phase_I	B1AKQ0|B1AKQ1|Q15158	Frame_Shift_Del	DEL	ENST00000376936.4	37	CCDS30584.1																																																																																				0.393	EXOSC10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000006078.1		NM_001001998	
FAM47B	170062	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	X	34962088	34962088	+	Silent	SNP	C	C	T			TCGA-A3-3308-01A-01D-0966-08	TCGA-A3-3308-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f89396-6b77-4592-908c-39cc24a829da	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chrX:34962088C>T	ENST00000329357.5	+	1	1176	c.1140C>T	c.(1138-1140)taC>taT	p.Y380Y		NM_152631.2	NP_689844.2	Q8NA70	FA47B_HUMAN	family with sequence similarity 47, member B	380										breast(3)|central_nervous_system(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|lung(28)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(3)	71						CTGGTAAATACCATTTTTGGG	0.552																																																	0													45.0	43.0	43.0					X																	34962088		2202	4300	6502	SO:0001819	synonymous_variant	170062			BC035026	CCDS14236.1	Xp21.1	2004-08-09			ENSG00000189132	ENSG00000189132			26659	protein-coding gene	gene with protein product						14702039	Standard	NM_152631		Approved	FLJ35782	uc004ddi.2	Q8NA70	OTTHUMG00000021345	ENST00000329357.5:c.1140C>T	X.37:g.34962088C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q5JQN5|Q6PIG3	Silent	SNP	ENST00000329357.5	37	CCDS14236.1																																																																																				0.552	FAM47B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056211.1		NM_152631	
FN1	2335	broad.mit.edu;hgsc.bcm.edu	37	2	216298131	216298131	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3308-01A-01D-0966-08	TCGA-A3-3308-11A-01D-0966-08	T	T	T	G	T	T	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	30f89396-6b77-4592-908c-39cc24a829da	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr2:216298131T>G	ENST00000359671.1	-	3	596	c.331A>C	c.(331-333)Act>Cct	p.T111P	FN1_ENST00000346544.3_Missense_Mutation_p.T111P|FN1_ENST00000357867.4_Missense_Mutation_p.T111P|FN1_ENST00000421182.1_Missense_Mutation_p.T111P|FN1_ENST00000336916.4_Missense_Mutation_p.T111P|FN1_ENST00000345488.5_Missense_Mutation_p.T111P|FN1_ENST00000357009.2_Missense_Mutation_p.T111P|FN1_ENST00000446046.1_Missense_Mutation_p.T111P|FN1_ENST00000432072.2_Missense_Mutation_p.T111P|AC012462.1_ENST00000412951.1_RNA|FN1_ENST00000356005.4_Missense_Mutation_p.T111P|FN1_ENST00000443816.1_Missense_Mutation_p.T111P|FN1_ENST00000323926.6_Missense_Mutation_p.T111P|FN1_ENST00000426059.1_Missense_Mutation_p.T111P|FN1_ENST00000354785.4_Missense_Mutation_p.T111P			P02751	FINC_HUMAN	fibronectin 1	111	Fibrin- and heparin-binding 1.|Fibronectin type-I 2. {ECO:0000255|PROSITE-ProRule:PRU00478}.				acute-phase response (GO:0006953)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|calcium-independent cell-matrix adhesion (GO:0007161)|cell adhesion (GO:0007155)|cell-substrate junction assembly (GO:0007044)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|integrin activation (GO:0033622)|leukocyte migration (GO:0050900)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of axon extension (GO:0045773)|regulation of cell shape (GO:0008360)|response to wounding (GO:0009611)|substrate adhesion-dependent cell spreading (GO:0034446)	apical plasma membrane (GO:0016324)|basal lamina (GO:0005605)|blood microparticle (GO:0072562)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|platelet alpha granule lumen (GO:0031093)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|peptidase activator activity (GO:0016504)|protease binding (GO:0002020)		FN1/ALK(2)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(7)|endometrium(9)|kidney(8)|large_intestine(33)|lung(38)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	109		Renal(323;0.127)		Epithelial(149;9.59e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00948)	Ocriplasmin(DB08888)	CGCTCATAAGTGTCACCCACT	0.498																																																	0													146.0	123.0	130.0					2																	216298131		2203	4300	6503	SO:0001583	missense	2335				CCDS2399.1, CCDS2400.1, CCDS42813.1, CCDS42814.1, CCDS46510.1, CCDS46512.1	2q34	2014-01-30			ENSG00000115414	ENSG00000115414		"""Fibronectin type III domain containing"", ""Endogenous ligands"""	3778	protein-coding gene	gene with protein product	"""migration-stimulating factor"", ""cold-insoluble globulin"""	135600				2992939, 3003095	Standard	NM_054034		Approved	MSF, CIG, LETS, GFND2, FINC	uc002vfa.3	P02751	OTTHUMG00000133054	ENST00000359671.1:c.331A>C	2.37:g.216298131T>G	ENSP00000352696:p.Thr111Pro	Somatic		WXS	Illumina HiSeq	Phase_I	B7ZLF0|E9PE77|E9PG29|O95609|O95610|Q14312|Q14325|Q14326|Q17RV7|Q564H7|Q585T2|Q59EH1|Q60FE4|Q68DP8|Q68DP9|Q68DT4|Q6LDP6|Q6MZS0|Q6MZU5|Q6N025|Q6N0A6|Q7Z391|Q86T27|Q8IVI8|Q96KP7|Q96KP8|Q96KP9|Q9H1B8|Q9HAP3|Q9UMK2	Missense_Mutation	SNP	ENST00000359671.1	37		.	.	.	.	.	.	.	.	.	.	T	33	5.211540	0.95069	.	.	ENSG00000115414	ENST00000421182;ENST00000323926;ENST00000336916;ENST00000357867;ENST00000354785;ENST00000265313;ENST00000359671;ENST00000346544;ENST00000345488;ENST00000357009;ENST00000446046;ENST00000443816;ENST00000432072;ENST00000356005;ENST00000426059	T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.49432	0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78;0.78	6.07	6.07	0.98685	.	0.000000	0.64402	D	0.000001	T	0.68238	0.2979	M	0.68952	2.095	0.80722	D	1	D;D;D;B;D;D;D;D;D;D;D	0.89917	1.0;0.999;0.995;0.053;1.0;1.0;1.0;0.999;1.0;1.0;0.998	D;D;D;B;D;D;D;D;D;D;D	0.97110	1.0;0.998;0.97;0.075;0.984;0.99;1.0;0.972;0.984;0.984;0.998	T	0.70568	-0.4836	10	0.72032	D	0.01	.	16.6407	0.85098	0.0:0.0:0.0:1.0	.	111;111;111;111;111;111;111;111;111;111;111	E9PG29;P02751-13;P02751-7;P02751-10;P02751-8;E9PE77;P02751-3;E7ERA1;P02751-9;P02751-14;P02751-15	.;.;.;.;.;.;.;.;.;.;.	P	111	ENSP00000394423:T111P;ENSP00000323534:T111P;ENSP00000338200:T111P;ENSP00000350534:T111P;ENSP00000346839:T111P;ENSP00000352696:T111P;ENSP00000265312:T111P;ENSP00000273049:T111P;ENSP00000349509:T111P;ENSP00000410422:T111P;ENSP00000415018:T111P;ENSP00000399538:T111P;ENSP00000348285:T111P;ENSP00000398907:T111P	ENSP00000265313:T111P	T	-	1	0	FN1	216006376	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.662000	0.83803	2.326000	0.78906	0.533000	0.62120	ACT		0.498	FN1-204	KNOWN	basic	protein_coding	protein_coding			NM_212476	
GRIK1	2897	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	30961307	30961307	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3308-01A-01D-0966-08	TCGA-A3-3308-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f89396-6b77-4592-908c-39cc24a829da	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr21:30961307C>T	ENST00000399907.1	-	11	1832	c.1421G>A	c.(1420-1422)aGa>aAa	p.R474K	GRIK1_ENST00000399913.1_Missense_Mutation_p.R474K|GRIK1_ENST00000327783.4_Missense_Mutation_p.R474K|GRIK1_ENST00000535441.1_Missense_Mutation_p.R476K|GRIK1_ENST00000399914.1_Missense_Mutation_p.R459K|GRIK1_ENST00000399909.1_Missense_Mutation_p.R459K|GRIK1_ENST00000389124.2_Missense_Mutation_p.R474K|GRIK1_ENST00000309434.7_Missense_Mutation_p.R476K|GRIK1_ENST00000389125.3_Missense_Mutation_p.R459K	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	474					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	TCCTTCAAATCTGTCATTTCC	0.368																																																	0													122.0	122.0	122.0					21																	30961307		2203	4300	6503	SO:0001583	missense	2897				CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.1421G>A	21.37:g.30961307C>T	ENSP00000382791:p.Arg474Lys	Somatic		WXS	Illumina HiSeq	Phase_I	Q13001|Q86SU9	Missense_Mutation	SNP	ENST00000399907.1	37	CCDS42913.1	.	.	.	.	.	.	.	.	.	.	C	24.9	4.578970	0.86645	.	.	ENSG00000171189	ENST00000327783;ENST00000389125;ENST00000399913;ENST00000399914;ENST00000535441;ENST00000389124;ENST00000399907;ENST00000399909;ENST00000309434	T;T;T;T;T;T;T;T;T	0.76448	-1.02;-1.02;-1.02;-1.02;-1.02;-1.02;-1.02;-1.02;-1.02	5.1	5.1	0.69264	Glutamate receptor, L-glutamate/glycine-binding (2);Ionotropic glutamate receptor (1);	0.000000	0.85682	D	0.000000	T	0.81837	0.4907	L	0.46819	1.47	0.58432	D	0.999998	P;P;P;P	0.38677	0.642;0.473;0.642;0.589	P;P;P;B	0.51055	0.466;0.657;0.466;0.336	T	0.79607	-0.1733	10	0.39692	T	0.17	.	18.654	0.91441	0.0:1.0:0.0:0.0	.	474;459;474;459	E9PD61;E7EPZ0;P39086;P39086-2	.;.;GRIK1_HUMAN;.	K	474;459;474;459;476;474;474;459;476	ENSP00000327687:R474K;ENSP00000373777:R459K;ENSP00000382797:R474K;ENSP00000382798:R459K;ENSP00000446326:R476K;ENSP00000373776:R474K;ENSP00000382791:R474K;ENSP00000382793:R459K;ENSP00000311646:R476K	ENSP00000311646:R476K	R	-	2	0	GRIK1	29883178	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	5.886000	0.69743	2.794000	0.96219	0.650000	0.86243	AGA		0.368	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171979.1			
HMCN1	83872	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	186158774	186158774	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3308-01A-01D-0966-08	TCGA-A3-3308-11A-01D-0966-08	A	A	A	G	A	A	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	30f89396-6b77-4592-908c-39cc24a829da	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:186158774A>G	ENST00000271588.4	+	107	16901	c.16672A>G	c.(16672-16674)Aca>Gca	p.T5558A	HMCN1_ENST00000367492.2_Missense_Mutation_p.T5441A	NM_031935.2	NP_114141.2	Q96RW7	HMCN1_HUMAN	hemicentin 1	5558					response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|cell cortex (GO:0005938)|cell junction (GO:0030054)|extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(2)|autonomic_ganglia(1)|breast(10)|central_nervous_system(2)|cervix(1)|endometrium(28)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(58)|liver(3)|lung(101)|ovary(23)|pancreas(4)|prostate(20)|skin(8)|stomach(1)|upper_aerodigestive_tract(11)|urinary_tract(18)	308						GGTTGCATACACACAGGATGG	0.468																																																	0													82.0	70.0	74.0					1																	186158774		2203	4300	6503	SO:0001583	missense	83872			AF156100	CCDS30956.1	1q25.3-q31.1	2013-01-11			ENSG00000143341	ENSG00000143341		"""Fibulins"", ""Immunoglobulin superfamily / I-set domain containing"""	19194	protein-coding gene	gene with protein product	"""fibulin 6"""	608548	"""age-related macular degeneration 1 (senile macular degeneration)"""	ARMD1		11222143	Standard	NM_031935		Approved	FBLN6, FIBL6, FIBL-6	uc001grq.1	Q96RW7	OTTHUMG00000059337	ENST00000271588.4:c.16672A>G	1.37:g.186158774A>G	ENSP00000271588:p.Thr5558Ala	Somatic		WXS	Illumina HiSeq	Phase_I	A6NGE3|Q5TYR7|Q96DN3|Q96DN8|Q96SC3	Missense_Mutation	SNP	ENST00000271588.4	37	CCDS30956.1	.	.	.	.	.	.	.	.	.	.	A	28.1	4.888503	0.91814	.	.	ENSG00000143341	ENST00000271588;ENST00000367492;ENST00000414277	T;T;T	0.75704	-0.1;-0.09;-0.96	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	D	0.83069	0.5174	L	0.56769	1.78	0.42764	D	0.993819	D	0.76494	0.999	D	0.78314	0.991	T	0.80362	-0.1414	10	0.23302	T	0.38	.	16.3483	0.83171	1.0:0.0:0.0:0.0	.	5558	Q96RW7	HMCN1_HUMAN	A	5558;5441;233	ENSP00000271588:T5558A;ENSP00000356462:T5441A;ENSP00000406205:T233A	ENSP00000271588:T5558A	T	+	1	0	HMCN1	184425397	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	6.240000	0.72363	2.254000	0.74563	0.533000	0.62120	ACA		0.468	HMCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131848.1		NM_031935	
HTR1A	3350	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	63257288	63257288	+	Missense_Mutation	SNP	C	C	G	rs201675006		TCGA-A3-3308-01A-01D-0966-08	TCGA-A3-3308-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f89396-6b77-4592-908c-39cc24a829da	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr5:63257288C>G	ENST00000323865.3	-	1	492	c.259G>C	c.(259-261)Gtg>Ctg	p.V87L	RP11-158J3.2_ENST00000502882.1_RNA	NM_000524.3	NP_000515.2	P08908	5HT1A_HUMAN	5-hydroxytryptamine (serotonin) receptor 1A, G protein-coupled	87					adenylate cyclase-inhibiting serotonin receptor signaling pathway (GO:0007198)|behavioral fear response (GO:0001662)|cell proliferation (GO:0008283)|exploration behavior (GO:0035640)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cell proliferation (GO:0008284)|regulation of behavior (GO:0050795)|regulation of dopamine metabolic process (GO:0042053)|regulation of hormone secretion (GO:0046883)|regulation of serotonin secretion (GO:0014062)|serotonin metabolic process (GO:0042428)|serotonin receptor signaling pathway (GO:0007210)|vasoconstriction (GO:0042310)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	serotonin receptor activity (GO:0004993)			cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(11)|lung(29)|ovary(2)|pancreas(2)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)	56		Lung NSC(810;3.55e-06)|Prostate(74;0.0352)|Ovarian(174;0.0545)|Breast(144;0.0575)|Colorectal(97;0.234)		Lung(70;0.105)	Acepromazine(DB01614)|Alprenolol(DB00866)|Alverine(DB01616)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Apomorphine(DB00714)|Aripiprazole(DB01238)|Asenapine(DB06216)|Bopindolol(DB08807)|Bromocriptine(DB01200)|Buspirone(DB00490)|Cabergoline(DB00248)|Chlorpromazine(DB00477)|Cinitapride(DB08810)|Clozapine(DB00363)|Desipramine(DB01151)|Dopamine(DB00988)|Doxepin(DB01142)|Eletriptan(DB00216)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Iloperidone(DB04946)|Imipramine(DB00458)|Ketamine(DB01221)|Lisuride(DB00589)|Loxapine(DB00408)|Lurasidone(DB08815)|Methysergide(DB00247)|Mianserin(DB06148)|Molindone(DB01618)|Naratriptan(DB00952)|Nefazodone(DB01149)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Ondansetron(DB00904)|Paliperidone(DB01267)|Penbutolol(DB01359)|Pergolide(DB01186)|Pindolol(DB00960)|Pipotiazine(DB01621)|Pramipexole(DB00413)|Propranolol(DB00571)|Quetiapine(DB01224)|Risperidone(DB00734)|Ropinirole(DB00268)|Rotigotine(DB05271)|Sumatriptan(DB00669)|Thioproperazine(DB01622)|Trazodone(DB00656)|Trimipramine(DB00726)|Vilazodone(DB06684)|Yohimbine(DB01392)|Ziprasidone(DB00246)|Zolmitriptan(DB00315)	AGCACCAACACCGACACCATG	0.602																																																	0													47.0	50.0	49.0					5																	63257288		2203	4300	6503	SO:0001583	missense	3350			AF498978	CCDS34168.1	5q11.2-q13	2012-08-08	2012-02-03			ENSG00000178394		"""5-HT (serotonin) receptors"", ""GPCR / Class A : 5-HT (serotonin) receptors, GPCR only"""	5286	protein-coding gene	gene with protein product		109760	"""5-hydroxytryptamine (serotonin) receptor 1A"""	ADRB2RL1, ADRBRL1		2591972, 12969265	Standard	NM_000524		Approved	5-HT1A	uc011cqt.3	P08908		ENST00000323865.3:c.259G>C	5.37:g.63257288C>G	ENSP00000316244:p.Val87Leu	Somatic		WXS	Illumina HiSeq	Phase_I	Q6LAE7	Missense_Mutation	SNP	ENST00000323865.3	37	CCDS34168.1	.	.	.	.	.	.	.	.	.	.	C	18.32	3.598758	0.66332	.	.	ENSG00000178394	ENST00000323865	T	0.32753	1.44	4.71	4.71	0.59529	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.27866	0.0686	L	0.39245	1.2	0.80722	D	1	B	0.33919	0.432	B	0.37047	0.24	T	0.04029	-1.0983	10	0.12430	T	0.62	.	16.6418	0.85128	0.0:1.0:0.0:0.0	.	87	P08908	5HT1A_HUMAN	L	87	ENSP00000316244:V87L	ENSP00000316244:V87L	V	-	1	0	HTR1A	63293044	0.992000	0.36948	0.998000	0.56505	0.965000	0.64279	2.755000	0.47540	2.170000	0.68504	0.561000	0.74099	GTG		0.602	HTR1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368397.1		NM_000524	
IL17RB	55540	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	53898830	53898830	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3308-01A-01D-0966-08	TCGA-A3-3308-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f89396-6b77-4592-908c-39cc24a829da	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr3:53898830T>A	ENST00000288167.3	+	11	1013	c.1004T>A	c.(1003-1005)cTt>cAt	p.L335H		NM_018725.3	NP_061195.2	Q9NRM6	I17RB_HUMAN	interleukin 17 receptor B	335	SEFIR. {ECO:0000255|PROSITE- ProRule:PRU00867}.				cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|regulation of cell growth (GO:0001558)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	cytokine receptor activity (GO:0004896)			breast(1)|endometrium(1)|large_intestine(3)|lung(2)|ovary(2)|pancreas(1)|prostate(2)|stomach(1)	13				BRCA - Breast invasive adenocarcinoma(193;0.000158)|KIRC - Kidney renal clear cell carcinoma(284;0.00588)|Kidney(284;0.00673)|OV - Ovarian serous cystadenocarcinoma(275;0.118)		ATTAAGGTTCTTGTGGTTTAC	0.398																																																	0													145.0	140.0	142.0					3																	53898830		2203	4300	6503	SO:0001583	missense	55540			AF212365	CCDS2874.1	3p21.1	2008-02-05		2003-07-09	ENSG00000056736	ENSG00000056736		"""Interleukins and interleukin receptors"""	18015	protein-coding gene	gene with protein product		605458	"""interleukin 17B receptor"""	IL17BR		10749887, 10815801	Standard	NM_018725		Approved	IL17RH1, EVI27, CRL4	uc003dha.3	Q9NRM6	OTTHUMG00000158280	ENST00000288167.3:c.1004T>A	3.37:g.53898830T>A	ENSP00000288167:p.Leu335His	Somatic		WXS	Illumina HiSeq	Phase_I	Q9BPZ0|Q9NRL4|Q9NRM5	Missense_Mutation	SNP	ENST00000288167.3	37	CCDS2874.1	.	.	.	.	.	.	.	.	.	.	T	21.6	4.174050	0.78452	.	.	ENSG00000056736	ENST00000288167;ENST00000494338	T;T	0.38722	1.12;1.12	5.84	5.84	0.93424	SEFIR (1);	0.194871	0.33217	N	0.005157	T	0.62380	0.2423	M	0.68317	2.08	0.41071	D	0.985459	D	0.89917	1.0	D	0.77557	0.99	T	0.66048	-0.6020	10	0.72032	D	0.01	-8.8097	13.7374	0.62827	0.0:0.0:0.0:1.0	.	335	Q9NRM6	I17RB_HUMAN	H	335;319	ENSP00000288167:L335H;ENSP00000418638:L319H	ENSP00000288167:L335H	L	+	2	0	IL17RB	53873870	0.998000	0.40836	0.976000	0.42696	0.964000	0.63967	5.163000	0.64948	2.230000	0.72887	0.528000	0.53228	CTT		0.398	IL17RB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350563.1		NM_172234	
ILF3	3609	hgsc.bcm.edu	37	19	10793910	10793911	+	Frame_Shift_Ins	INS	-	-	C			TCGA-A3-3308-01A-01D-0966-08	TCGA-A3-3308-11A-01D-0966-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f89396-6b77-4592-908c-39cc24a829da	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr19:10793910_10793911insC	ENST00000590261.1	+	13	1646_1647	c.1646_1647insC	c.(1645-1650)ggcagcfs	p.S550fs	ILF3_ENST00000420083.1_Frame_Shift_Ins_p.S550fs|ILF3_ENST00000588657.1_Frame_Shift_Ins_p.S554fs|ILF3_ENST00000592763.1_Frame_Shift_Ins_p.S554fs|ILF3_ENST00000318511.3_Frame_Shift_Ins_p.S550fs|ILF3_ENST00000589998.1_Frame_Shift_Ins_p.S550fs|ILF3_ENST00000449870.1_Frame_Shift_Ins_p.S554fs|ILF3_ENST00000407004.3_Frame_Shift_Ins_p.S554fs|ILF3_ENST00000250241.8_Frame_Shift_Ins_p.S550fs			Q12906	ILF3_HUMAN	interleukin enhancer binding factor 3, 90kDa	550	DRBM 2. {ECO:0000255|PROSITE- ProRule:PRU00266}.				defense response to virus (GO:0051607)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of translation (GO:0017148)|negative regulation of viral genome replication (GO:0045071)|positive regulation of transcription, DNA-templated (GO:0045893)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|double-stranded RNA binding (GO:0003725)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(9)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	31			Epithelial(33;6.86e-06)|all cancers(31;1.65e-05)			GAGACCGGGGGCAGCCACGACA	0.658																																																	0																																										SO:0001589	frameshift_variant	3609			U10324	CCDS12246.1, CCDS12247.1, CCDS45965.1, CCDS45966.1, CCDS45967.1	19p13.2	2012-08-10	2002-08-29		ENSG00000129351	ENSG00000129351			6038	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 4"""	603182	"""interleukin enhancer binding factor 3, 90kD"""			7519613, 8885239	Standard	NM_012218		Approved	NF90, MPHOSPH4, MPP4, DRBP76, NFAR-1	uc002mpo.3	Q12906		ENST00000590261.1:c.1647dupC	19.37:g.10793911_10793911dupC	ENSP00000468156:p.Ser550fs	Somatic		WXS	Illumina HiSeq	Phase_I	A8K6F2|G5E9M5|O43409|Q6P1X1|Q86XY7|Q99544|Q99545|Q9BZH4|Q9BZH5|Q9NQ95|Q9NQ96|Q9NQ97|Q9NQ98|Q9NQ99|Q9NQA0|Q9NQA1|Q9NQA2|Q9NRN2|Q9NRN3|Q9NRN4|Q9UMZ9|Q9UN00|Q9UN84|Q9UNA2	Frame_Shift_Ins	INS	ENST00000590261.1	37	CCDS12246.1																																																																																				0.658	ILF3-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452074.1			
IMPG2	50939	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	100949947	100949947	+	Silent	SNP	A	A	G			TCGA-A3-3308-01A-01D-0966-08	TCGA-A3-3308-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f89396-6b77-4592-908c-39cc24a829da	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr3:100949947A>G	ENST00000193391.7	-	16	3463	c.3276T>C	c.(3274-3276)tgT>tgC	p.C1092C		NM_016247.3	NP_057331.2	Q9BZV3	IMPG2_HUMAN	interphotoreceptor matrix proteoglycan 2	1092	EGF-like 2. {ECO:0000255|PROSITE- ProRule:PRU00076}.				visual perception (GO:0007601)	integral component of membrane (GO:0016021)|proteinaceous extracellular matrix (GO:0005578)|receptor complex (GO:0043235)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|hyaluronic acid binding (GO:0005540)			NS(1)|breast(2)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(14)|lung(32)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64					Hyaluronan(DB08818)	CAAATTCCTCACAGTGCTTGC	0.488																																																	0													255.0	218.0	231.0					3																	100949947		2203	4300	6503	SO:0001819	synonymous_variant	50939			AF173155	CCDS2940.1	3q12.2-q12.3	2014-01-28			ENSG00000081148	ENSG00000081148			18362	protein-coding gene	gene with protein product		607056				10542133	Standard	NM_016247		Approved	IPM200, RP56	uc003duq.2	Q9BZV3	OTTHUMG00000159091	ENST00000193391.7:c.3276T>C	3.37:g.100949947A>G		Somatic		WXS	Illumina HiSeq	Phase_I	A8MWT5|Q9UKD4|Q9UKK5	Silent	SNP	ENST00000193391.7	37	CCDS2940.1																																																																																				0.488	IMPG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353256.3			
INADL	10207	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	62288627	62288627	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3308-01A-01D-0966-08	TCGA-A3-3308-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f89396-6b77-4592-908c-39cc24a829da	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:62288627T>C	ENST00000371158.2	+	15	1808	c.1694T>C	c.(1693-1695)aTt>aCt	p.I565T	INADL_ENST00000316485.6_Missense_Mutation_p.I565T	NM_176877.2	NP_795352	Q8NI35	INADL_HUMAN	InaD-like (Drosophila)	565	PDZ 4. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|intracellular signal transduction (GO:0035556)|tight junction assembly (GO:0070830)	apical part of cell (GO:0045177)|extracellular vesicular exosome (GO:0070062)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|tight junction (GO:0005923)				breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(8)|liver(1)|lung(51)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(3)	103						CTGCTGCCTATTCACACTCTG	0.428																																																	0													223.0	204.0	210.0					1																	62288627		2203	4300	6503	SO:0001583	missense	10207			AB044807	CCDS617.2	1p31	2008-02-05			ENSG00000132849	ENSG00000132849			28881	protein-coding gene	gene with protein product		603199				9280290, 11374908	Standard	NM_176877		Approved	Cipp, PATJ	uc001dab.3	Q8NI35	OTTHUMG00000008560	ENST00000371158.2:c.1694T>C	1.37:g.62288627T>C	ENSP00000360200:p.Ile565Thr	Somatic		WXS	Illumina HiSeq	Phase_I	O15249|O43742|O60833|Q5VUA5|Q5VUA6|Q5VUA7|Q5VUA8|Q5VUA9|Q5VUB0|Q8WU78|Q9H3N9	Missense_Mutation	SNP	ENST00000371158.2	37	CCDS617.2	.	.	.	.	.	.	.	.	.	.	T	19.04	3.749745	0.69533	.	.	ENSG00000132849	ENST00000371158;ENST00000316485;ENST00000371156;ENST00000395513;ENST00000255202	T;T	0.12147	2.89;2.71	4.99	4.99	0.66335	PDZ/DHR/GLGF (2);	0.078865	0.50627	D	0.000120	T	0.25232	0.0613	L	0.34521	1.04	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.97	D;D;P	0.91635	0.992;0.999;0.88	T	0.02378	-1.1168	10	0.25106	T	0.35	.	14.3646	0.66799	0.0:0.0:0.0:1.0	.	565;565;565	F8W8T2;Q8NI35;Q8NI35-4	.;INADL_HUMAN;.	T	565	ENSP00000360200:I565T;ENSP00000326199:I565T	ENSP00000255202:I565T	I	+	2	0	INADL	62061215	1.000000	0.71417	0.997000	0.53966	0.890000	0.51754	6.797000	0.75150	1.882000	0.54519	0.459000	0.35465	ATT		0.428	INADL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023639.2		NM_170605	
MCMBP	79892	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	121587100	121587100	+	IGR	SNP	T	T	A			TCGA-A3-3308-01A-01D-0966-08	TCGA-A3-3308-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f89396-6b77-4592-908c-39cc24a829da	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr10:121587100T>A	ENST00000360003.3	-	0	4113				INPP5F_ENST00000361976.2_Silent_p.S1069S|INPP5F_ENST00000369080.3_Silent_p.S459S	NM_001256378.1|NM_001256379.1|NM_024834.3	NP_001243307.1|NP_001243308.1|NP_079110.1	Q9BTE3	MCMBP_HUMAN	minichromosome maintenance complex binding protein						DNA-dependent DNA replication (GO:0006261)|mitotic nuclear division (GO:0007067)|sister chromatid cohesion (GO:0007062)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	chromatin binding (GO:0003682)			breast(1)|endometrium(3)|large_intestine(4)|lung(9)|ovary(2)|skin(2)	21						GAGCAGTCTCTCCCTTTGCCA	0.478																																																	0													101.0	100.0	101.0					10																	121587100		2203	4300	6503	SO:0001628	intergenic_variant	22876			BC007219	CCDS7617.1, CCDS58099.1	10q26.13	2013-10-11	2011-01-05	2011-01-05	ENSG00000197771	ENSG00000197771			25782	protein-coding gene	gene with protein product		610909	"""chromosome 10 open reading frame 119"""	C10orf119		17296731	Standard	NM_024834		Approved	FLJ13081, MCM-BP	uc001ler.3	Q9BTE3	OTTHUMG00000019159		10.37:g.121587100T>A		Somatic		WXS	Illumina HiSeq	Phase_I	B3KSP7|Q6IA56|Q9BVT9|Q9H916	Silent	SNP	ENST00000360003.3	37	CCDS7617.1																																																																																				0.478	MCMBP-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000050684.1		NM_024834	
IQGAP1	8826	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	91025444	91025444	+	Silent	SNP	C	C	T			TCGA-A3-3308-01A-01D-0966-08	TCGA-A3-3308-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f89396-6b77-4592-908c-39cc24a829da	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr15:91025444C>T	ENST00000268182.5	+	28	3610	c.3486C>T	c.(3484-3486)ttC>ttT	p.F1162F	IQGAP1_ENST00000560738.1_Silent_p.F590F	NM_003870.3	NP_003861.1	P46940	IQGA1_HUMAN	IQ motif containing GTPase activating protein 1	1162	C1.|Ras-GAP. {ECO:0000255|PROSITE- ProRule:PRU00167}.				cellular response to calcium ion (GO:0071277)|cellular response to epidermal growth factor stimulus (GO:0071364)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|glomerular visceral epithelial cell development (GO:0072015)|negative regulation of catalytic activity (GO:0043086)|negative regulation of dephosphorylation (GO:0035305)|neuron projection extension (GO:1990138)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|regulation of cytokine production (GO:0001817)|regulation of insulin secretion (GO:0050796)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	actin filament (GO:0005884)|axon (GO:0030424)|cell junction (GO:0030054)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoplasmic ribonucleoprotein granule (GO:0036464)|extracellular vesicular exosome (GO:0070062)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lateral plasma membrane (GO:0016328)|microtubule (GO:0005874)|midbody (GO:0030496)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|GTPase activator activity (GO:0005096)|GTPase inhibitor activity (GO:0005095)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|protein serine/threonine kinase activator activity (GO:0043539)|Ras GTPase activator activity (GO:0005099)			breast(2)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(14)|liver(1)|lung(18)|ovary(2)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	59	Melanoma(11;0.00551)|Lung NSC(78;0.0237)|all_lung(78;0.0488)		BRCA - Breast invasive adenocarcinoma(143;0.0745)|KIRC - Kidney renal clear cell carcinoma(17;0.138)|Kidney(142;0.194)			GGATGCGCTTCATTGCCAAAG	0.522											OREG0023473	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													136.0	118.0	124.0					15																	91025444		2198	4298	6496	SO:0001819	synonymous_variant	8826			D29640	CCDS10362.1	15q26.1	2008-07-18			ENSG00000140575	ENSG00000140575			6110	protein-coding gene	gene with protein product	"""RasGAP-like with IQ motifs"""	603379				8051149, 8670801	Standard	XM_005254984		Approved	p195, KIAA0051, SAR1, HUMORFA01	uc002bpl.1	P46940	OTTHUMG00000149832	ENST00000268182.5:c.3486C>T	15.37:g.91025444C>T		Somatic	1279	WXS	Illumina HiSeq	Phase_I	A7MBM3	Silent	SNP	ENST00000268182.5	37	CCDS10362.1																																																																																				0.522	IQGAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313493.1		NM_003870	
KIF25	3834	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	168440859	168440859	+	Silent	SNP	G	G	A	rs147571413	byFrequency	TCGA-A3-3308-01A-01D-0966-08	TCGA-A3-3308-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f89396-6b77-4592-908c-39cc24a829da	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr6:168440859G>A	ENST00000443060.2	+	7	1000	c.609G>A	c.(607-609)acG>acA	p.T203T	KIF25_ENST00000351261.3_Silent_p.T203T|KIF25_ENST00000354419.2_Silent_p.T203T			Q9UIL4	KIF25_HUMAN	kinesin family member 25	203	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of autophagy (GO:0010507)|organelle organization (GO:0006996)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(2)|breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	29		Breast(66;1.07e-05)|Ovarian(120;0.0728)		Epithelial(4;7.7e-30)|OV - Ovarian serous cystadenocarcinoma(33;5.82e-22)|BRCA - Breast invasive adenocarcinoma(4;1.38e-10)|GBM - Glioblastoma multiforme(31;0.000756)		TGATAATTACGGTGACTCTAA	0.512																																																	0													73.0	62.0	66.0					6																	168440859		2203	4300	6503	SO:0001819	synonymous_variant	3834			AB012722	CCDS5305.1, CCDS43530.1	6q27	2008-02-05	2003-01-09	2003-01-10	ENSG00000125337	ENSG00000125337		"""Kinesins"""	6390	protein-coding gene	gene with protein product		603815	"""kinesin-like 3"""	KNSL3		9925910	Standard	NM_030615		Approved		uc003qwk.1	Q9UIL4	OTTHUMG00000016035	ENST00000443060.2:c.609G>A	6.37:g.168440859G>A		Somatic		WXS	Illumina HiSeq	Phase_I	O94775|Q5SZU9	Silent	SNP	ENST00000443060.2	37	CCDS5305.1																																																																																				0.512	KIF25-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362509.1			
LEO1	123169	hgsc.bcm.edu	37	15	52246708	52246708	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3308-01A-01D-0966-08	TCGA-A3-3308-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f89396-6b77-4592-908c-39cc24a829da	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr15:52246708delT	ENST00000299601.5	-	7	1370	c.1310delA	c.(1309-1311)aatfs	p.N437fs	LEO1_ENST00000315141.5_Intron	NM_138792.2	NP_620147.1	Q8WVC0	LEO1_HUMAN	Leo1, Paf1/RNA polymerase II complex component, homolog (S. cerevisiae)	437					endodermal cell fate commitment (GO:0001711)|histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|mRNA polyadenylation (GO:0006378)|negative regulation of myeloid cell differentiation (GO:0045638)|positive regulation of mRNA 3'-end processing (GO:0031442)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|stem cell maintenance (GO:0019827)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	Cdc73/Paf1 complex (GO:0016593)				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(5)|skin(1)	14				all cancers(107;0.00264)		TATCCGAGCATTGCTTTCTTT	0.393																																					Esophageal Squamous(40;229 896 18505 32465 43844)|Ovarian(53;886 1123 14462 18432 23189)												0													238.0	202.0	214.0					15																	52246708		2195	4292	6487	SO:0001589	frameshift_variant	123169			AY302186	CCDS10146.1, CCDS66767.1	15q21.2	2008-02-05			ENSG00000166477	ENSG00000166477			30401	protein-coding gene	gene with protein product		610507				15632063	Standard	NM_001286430		Approved		uc002abo.3	Q8WVC0	OTTHUMG00000131843	ENST00000299601.5:c.1310delA	15.37:g.52246708delT	ENSP00000299601:p.Asn437fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q96N99	Frame_Shift_Del	DEL	ENST00000299601.5	37	CCDS10146.1																																																																																				0.393	LEO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254791.2		NM_138792	
LGSN	51557	broad.mit.edu;ucsc.edu	37	6	63990712	63990712	+	Nonsense_Mutation	SNP	A	A	C			TCGA-A3-3308-01A-01D-0966-08	TCGA-A3-3308-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f89396-6b77-4592-908c-39cc24a829da	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr6:63990712A>C	ENST00000370657.4	-	4	777	c.744T>G	c.(742-744)taT>taG	p.Y248*	LGSN_ENST00000370658.5_Intron			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	248					glutamine biosynthetic process (GO:0006542)	plasma membrane (GO:0005886)	glutamate-ammonia ligase activity (GO:0004356)			NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						CTCCAGTGTGATACAAGCCAT	0.403																																																	0													48.0	43.0	44.0					6																	63990712		2203	4300	6503	SO:0001587	stop_gained	51557			AF242388	CCDS4964.1, CCDS55027.1	6q12	2013-09-19	2008-09-19	2008-09-19	ENSG00000146166	ENSG00000146166			21016	protein-coding gene	gene with protein product		611470	"""glutamate-ammonia ligase (glutamine synthetase) domain containing 1"""	GLULD1		12107412	Standard	NM_016571		Approved	LGS	uc003peh.3	Q5TDP6	OTTHUMG00000014946	ENST00000370657.4:c.744T>G	6.37:g.63990712A>C	ENSP00000359691:p.Tyr248*	Somatic		WXS	Illumina GAIIx	Phase_I	A1L421|Q0PVN9|Q0PVP0|Q9NYJ0	Nonsense_Mutation	SNP	ENST00000370657.4	37	CCDS4964.1	.	.	.	.	.	.	.	.	.	.	A	10.09	1.255188	0.22965	.	.	ENSG00000146166	ENST00000370657	.	.	.	5.17	-0.234	0.13074	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.25106	T	0.35	-17.588	5.5683	0.17182	0.6465:0.1337:0.2199:0.0	.	.	.	.	X	248	.	ENSP00000359691:Y248X	Y	-	3	2	LGSN	64048671	1.000000	0.71417	0.956000	0.39512	0.030000	0.12068	2.853000	0.48317	-0.189000	0.10482	-0.256000	0.11100	TAT		0.403	LGSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041076.2		NM_016571	
LMO7	4008	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	76369561	76369561	+	Silent	SNP	G	G	A			TCGA-A3-3308-01A-01D-0966-08	TCGA-A3-3308-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f89396-6b77-4592-908c-39cc24a829da	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr13:76369561G>A	ENST00000341547.4	+	6	1758	c.498G>A	c.(496-498)gtG>gtA	p.V166V	RP11-29G8.3_ENST00000563635.1_RNA|LMO7_ENST00000526202.1_Silent_p.V75V|LMO7_ENST00000357063.3_Silent_p.V166V|LMO7_ENST00000377534.3_Silent_p.V166V|LMO7_ENST00000321797.8_5'UTR|LMO7_ENST00000465261.2_5'UTR	NM_005358.5	NP_005349.3	Q8WWI1	LMO7_HUMAN	LIM domain 7	166	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(20)|lung(15)|ovary(2)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	56		Breast(118;0.0992)		GBM - Glioblastoma multiforme(99;0.0109)		ACAGGAGAGTGAAAAATGTAA	0.313																																																	0													89.0	90.0	90.0					13																	76369561		2203	4295	6498	SO:0001819	synonymous_variant	4008			AF092557	CCDS9454.1, CCDS53876.1	13q22.2	2008-02-05	2004-06-15		ENSG00000136153	ENSG00000136153			6646	protein-coding gene	gene with protein product	"""F-box only protein 20"""	604362	"""LIM domain only 7"""	FBXO20		9826547, 10531035	Standard	NM_005358		Approved	FBX20, KIAA0858	uc021rkq.1	Q8WWI1	OTTHUMG00000017093	ENST00000341547.4:c.498G>A	13.37:g.76369561G>A		Somatic		WXS	Illumina HiSeq	Phase_I	E9PLH4|O15462|O95346|Q5TBK6|Q9UKC1|Q9UQM5|Q9Y6A7	Silent	SNP	ENST00000341547.4	37	CCDS9454.1																																																																																				0.313	LMO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045297.1		NM_005358	
LRIT1	26103	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	85991773	85991773	+	Silent	SNP	C	C	T			TCGA-A3-3308-01A-01D-0966-08	TCGA-A3-3308-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f89396-6b77-4592-908c-39cc24a829da	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr10:85991773C>T	ENST00000372105.3	-	4	1803	c.1782G>A	c.(1780-1782)gaG>gaA	p.E594E		NM_015613.2	NP_056428.1	Q9P2V4	LRIT1_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 1	594						integral component of endoplasmic reticulum membrane (GO:0030176)		p.E594D(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|skin(1)	23						GCCTGTCAGCCTCGCTGACAC	0.562																																																	1	Substitution - Missense(1)	lung(1)											84.0	67.0	73.0					10																	85991773		2203	4300	6503	SO:0001819	synonymous_variant	26103			AB031547	CCDS7373.1	10q23	2013-02-11	2007-06-19	2007-06-19	ENSG00000148602	ENSG00000148602		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	23404	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 9"""		"""leucine rich repeat containing 21"""	LRRC21		10777785	Standard	NM_015613		Approved	PAL, DKFZP434K091, FIGLER9	uc001kcz.1	Q9P2V4	OTTHUMG00000018632	ENST00000372105.3:c.1782G>A	10.37:g.85991773C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q0QD41|Q9Y4N7	Silent	SNP	ENST00000372105.3	37	CCDS7373.1																																																																																				0.562	LRIT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049109.1		NM_015613	
LRRN3	54674	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	110764578	110764578	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3308-01A-01D-0966-08	TCGA-A3-3308-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f89396-6b77-4592-908c-39cc24a829da	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr7:110764578A>G	ENST00000422987.3	+	2	2581	c.1750A>G	c.(1750-1752)Aat>Gat	p.N584D	IMMP2L_ENST00000447215.1_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.N584D|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000489381.1_Intron|IMMP2L_ENST00000450877.1_Intron|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000331762.3_Intron|IMMP2L_ENST00000437687.1_Intron|LRRN3_ENST00000451085.1_Missense_Mutation_p.N584D	NM_018334.4	NP_060804.3	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	584	Fibronectin type-III. {ECO:0000255|PROSITE-ProRule:PRU00316}.				positive regulation of protein phosphorylation (GO:0001934)	clathrin adaptor complex (GO:0030131)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		TACTCATCTGAATCCATCAAC	0.363																																																	0													51.0	48.0	49.0					7																	110764578		2203	4300	6503	SO:0001583	missense	54674			AB060967	CCDS5754.1	7q31.1	2013-02-11			ENSG00000173114	ENSG00000173114		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17200	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 5"""					11549284	Standard	NM_001099660		Approved	NLRR3, FLJ11129, FIGLER5	uc003vfs.4	Q9H3W5	OTTHUMG00000155039	ENST00000422987.3:c.1750A>G	7.37:g.110764578A>G	ENSP00000412417:p.Asn584Asp	Somatic		WXS	Illumina HiSeq	Phase_I	O43377|Q6I9V8|Q8IYQ6	Missense_Mutation	SNP	ENST00000422987.3	37	CCDS5754.1	.	.	.	.	.	.	.	.	.	.	A	10.56	1.383380	0.25031	.	.	ENSG00000173114	ENST00000308478;ENST00000451085;ENST00000422987	T;T;T	0.56776	0.44;0.44;0.44	6.13	4.92	0.64577	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.582024	0.17040	N	0.189353	T	0.42675	0.1213	L	0.36672	1.1	0.28953	N	0.890317	B	0.17852	0.024	B	0.24701	0.055	T	0.26430	-1.0103	10	0.13470	T	0.59	.	13.2493	0.60041	0.8678:0.1322:0.0:0.0	.	584	Q9H3W5	LRRN3_HUMAN	D	584	ENSP00000312001:N584D;ENSP00000397312:N584D;ENSP00000412417:N584D	ENSP00000312001:N584D	N	+	1	0	LRRN3	110551814	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.659000	0.61504	2.367000	0.80283	0.529000	0.55759	AAT		0.363	LRRN3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338171.2		NM_018334	
MANEAL	149175	broad.mit.edu;hgsc.bcm.edu	37	1	38260262	38260262	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3308-01A-01D-0966-08	TCGA-A3-3308-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f89396-6b77-4592-908c-39cc24a829da	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:38260262G>T	ENST00000373045.6	+	1	789	c.408G>T	c.(406-408)aaG>aaT	p.K136N	MANEAL_ENST00000329006.5_5'Flank|MANEAL_ENST00000397631.3_Missense_Mutation_p.K136N|MANEAL_ENST00000525897.1_5'Flank	NM_001113482.1	NP_001106954.1	Q5VSG8	MANEL_HUMAN	mannosidase, endo-alpha-like	136						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(1)|liver(1)|lung(1)|prostate(3)	7	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				GGGACCCCAAGATCTCGGCCA	0.692																																																	0													12.0	14.0	14.0					1																	38260262		1724	3821	5545	SO:0001583	missense	149175			AK055996	CCDS426.1, CCDS44110.1, CCDS44111.1	1p34.3	2008-02-05			ENSG00000185090	ENSG00000185090			26452	protein-coding gene	gene with protein product							Standard	NM_152496		Approved	FLJ31434	uc001cby.2	Q5VSG8	OTTHUMG00000004317	ENST00000373045.6:c.408G>T	1.37:g.38260262G>T	ENSP00000362136:p.Lys136Asn	Somatic		WXS	Illumina HiSeq	Phase_I	Q6DD86|Q6P497|Q8N5P8|Q96G55|Q96N42	Missense_Mutation	SNP	ENST00000373045.6	37	CCDS44110.1	.	.	.	.	.	.	.	.	.	.	G	12.58	1.980471	0.34942	.	.	ENSG00000185090	ENST00000373045;ENST00000397631;ENST00000532512	.	.	.	3.85	1.7	0.24286	.	0.052163	0.85682	D	0.000000	T	0.51210	0.1661	L	0.47190	1.495	0.80722	D	1	B;D	0.58268	0.216;0.982	B;P	0.53549	0.108;0.729	T	0.42832	-0.9428	9	0.24483	T	0.36	-17.6717	9.3529	0.38149	0.2239:0.0:0.7761:0.0	.	136;136	Q5VSG8;Q5VSG8-3	MANEL_HUMAN;.	N	136;136;36	.	ENSP00000362136:K136N	K	+	3	2	MANEAL	38032849	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.428000	0.34892	0.825000	0.34637	0.478000	0.44815	AAG		0.692	MANEAL-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012469.2		NM_152496	
MAP3K12	7786	broad.mit.edu;hgsc.bcm.edu	37	12	53880961	53880961	+	Intron	SNP	G	G	T			TCGA-A3-3308-01A-01D-0966-08	TCGA-A3-3308-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f89396-6b77-4592-908c-39cc24a829da	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr12:53880961G>T	ENST00000267079.2	-	3	363				MAP3K12_ENST00000547488.1_Missense_Mutation_p.P72H|MAP3K12_ENST00000547035.1_Missense_Mutation_p.P72H|MAP3K12_ENST00000547151.1_Intron	NM_001193511.1|NM_006301.3	NP_001180440.1|NP_006292.3	Q12852	M3K12_HUMAN	mitogen-activated protein kinase kinase kinase 12						histone phosphorylation (GO:0016572)|intracellular signal transduction (GO:0035556)|JNK cascade (GO:0007254)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|growth cone (GO:0030426)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|protein homodimerization activity (GO:0042803)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)			NS(2)|breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|liver(1)|lung(16)|ovary(2)|pancreas(1)|prostate(1)|skin(3)	37						AGGCTCAGGGGGCGGCTCTCC	0.647																																																	0													44.0	45.0	44.0					12																	53880961		2203	4300	6503	SO:0001627	intron_variant	7786			U07358	CCDS8860.1, CCDS55831.1	12q13.13	2013-10-30			ENSG00000139625	ENSG00000139625		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6851	protein-coding gene	gene with protein product	"""dual leucine zipper kinase DLK"""	600447		ZPK		8037767	Standard	NM_006301		Approved	MUK, DLK, ZPKP1, MEKK12	uc001sdn.2	Q12852	OTTHUMG00000169854	ENST00000267079.2:c.138-22C>A	12.37:g.53880961G>T		Somatic		WXS	Illumina HiSeq	Phase_I	B3KSS9|G3V1Y2|Q86VQ5|Q8WY25	Missense_Mutation	SNP	ENST00000267079.2	37	CCDS8860.1	.	.	.	.	.	.	.	.	.	.	G	12.94	2.086968	0.36855	.	.	ENSG00000139625	ENST00000547488;ENST00000547035	T;T	0.75704	-0.96;-0.96	5.14	5.14	0.70334	.	.	.	.	.	T	0.58235	0.2108	N	0.14661	0.345	0.25012	N	0.991393	P	0.45957	0.869	B	0.39217	0.294	T	0.53906	-0.8372	9	0.41790	T	0.15	.	12.8177	0.57675	0.0:0.0:0.8363:0.1637	.	72	G3V1Y2	.	H	72	ENSP00000449038:P72H;ENSP00000448689:P72H	ENSP00000448689:P72H	P	-	2	0	MAP3K12	52167228	1.000000	0.71417	0.994000	0.49952	0.945000	0.59286	2.995000	0.49441	2.584000	0.87258	0.462000	0.41574	CCC		0.647	MAP3K12-004	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000406267.1		NM_006301	
MAP3K15	389840	hgsc.bcm.edu	37	X	19387229	19387230	+	Frame_Shift_Ins	INS	-	-	G			TCGA-A3-3308-01A-01D-0966-08	TCGA-A3-3308-11A-01D-0966-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f89396-6b77-4592-908c-39cc24a829da	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chrX:19387229_19387230insG	ENST00000338883.4	-	25	3507_3508	c.3508_3509insC	c.(3508-3510)cagfs	p.Q1170fs	MAP3K15_ENST00000469203.2_Frame_Shift_Ins_p.Q1002fs|MAP3K15_ENST00000518578.1_5'UTR|MAP3K15_ENST00000359173.3_Frame_Shift_Ins_p.Q605fs	NM_001001671.3	NP_001001671.3	Q6ZN16	M3K15_HUMAN	mitogen-activated protein kinase kinase kinase 15	1170							ATP binding (GO:0005524)|MAP kinase kinase kinase activity (GO:0004709)|metal ion binding (GO:0046872)			NS(2)|cervix(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(8)|lung(13)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	Hepatocellular(33;0.183)					CTGGTGGGGCTGGGCCTCCTGG	0.634																																																	0																																										SO:0001589	frameshift_variant	389840			AK131412		Xp22.12	2011-06-09			ENSG00000180815	ENSG00000180815		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	31689	protein-coding gene	gene with protein product		300820					Standard	NM_001001671		Approved	bA723P2.3, FLJ16518	uc022btq.1	Q6ZN16	OTTHUMG00000022724	ENST00000338883.4:c.3509dupC	X.37:g.19387232_19387232dupG	ENSP00000345629:p.Gln1170fs	Somatic		WXS	Illumina HiSeq	Phase_I	A2AI49|A2AI50|A6NJ61|Q5JPR4|Q6ZMV3	Frame_Shift_Ins	INS	ENST00000338883.4	37																																																																																					0.634	MAP3K15-201	KNOWN	basic|appris_principal	protein_coding	protein_coding			NM_001001671	
MFAP5	8076	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	8802129	8802129	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3308-01A-01D-0966-08	TCGA-A3-3308-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f89396-6b77-4592-908c-39cc24a829da	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr12:8802129C>T	ENST00000359478.2	-	9	564	c.377G>A	c.(376-378)cGt>cAt	p.R126H	MFAP5_ENST00000535336.1_Intron|MFAP5_ENST00000433590.2_Missense_Mutation_p.R101H|MFAP5_ENST00000538107.1_5'Flank|MFAP5_ENST00000540087.1_Missense_Mutation_p.R116H|MFAP5_ENST00000543369.1_Missense_Mutation_p.R104H|MFAP5_ENST00000396549.2_Missense_Mutation_p.R116H	NM_003480.2	NP_003471.1	Q13361	MFAP5_HUMAN	microfibrillar associated protein 5	126					extracellular fibril organization (GO:0043206)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|microfibril (GO:0001527)	extracellular matrix structural constituent (GO:0005201)			breast(1)|endometrium(2)|large_intestine(4)|lung(5)|skin(1)	13	Lung SC(5;0.184)					ACAGACAAGACGAGAGCAGAT	0.443																																																	0													296.0	227.0	250.0					12																	8802129		2203	4300	6503	SO:0001583	missense	8076			AK124368	CCDS8595.1, CCDS73437.1	12p13.1-p12.3	2004-04-05				ENSG00000197614			29673	protein-coding gene	gene with protein product		601103				9792630, 8557636	Standard	XM_005253485		Approved	MAGP2, MP25	uc001qut.1	Q13361		ENST00000359478.2:c.377G>A	12.37:g.8802129C>T	ENSP00000352455:p.Arg126His	Somatic		WXS	Illumina HiSeq	Phase_I	B0AZL6|D3DUV1|Q7Z490	Missense_Mutation	SNP	ENST00000359478.2	37	CCDS8595.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	26.2|26.2	4.712297|4.712297	0.89112|0.89112	.|.	.|.	ENSG00000197614|ENSG00000197614	ENST00000543467;ENST00000359478;ENST00000433590;ENST00000396549;ENST00000543369;ENST00000540087|ENST00000535411	.|.	.|.	.|.	5.04|5.04	5.04|5.04	0.67666|0.67666	.|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.72542|0.72542	0.3473|0.3473	M|M	0.72894|0.72894	2.215|2.215	0.39907|0.39907	D|D	0.973972|0.973972	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.91635|.	0.999;0.999;0.999|.	T|T	0.73777|0.73777	-0.3876|-0.3876	9|5	0.87932|.	D|.	0|.	-17.56|-17.56	13.7701|13.7701	0.63019|0.63019	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	101;126;116|.	B3KW70;Q13361;Q7Z490|.	.;MFAP5_HUMAN;.|.	H|I	32;126;101;116;104;116|116	.|.	ENSP00000352455:R126H|.	R|V	-|-	2|1	0|0	MFAP5|MFAP5	8693396|8693396	0.997000|0.997000	0.39634|0.39634	0.986000|0.986000	0.45419|0.45419	0.990000|0.990000	0.78478|0.78478	3.794000|3.794000	0.55492|0.55492	2.614000|2.614000	0.88457|0.88457	0.563000|0.563000	0.77884|0.77884	CGT|GTC		0.443	MFAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400656.2		NM_003480	
MID1	4281	broad.mit.edu;hgsc.bcm.edu	37	X	10437719	10437719	+	Intron	SNP	A	A	C			TCGA-A3-3308-01A-01D-0966-08	TCGA-A3-3308-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f89396-6b77-4592-908c-39cc24a829da	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chrX:10437719A>C	ENST00000317552.4	-	7	1686				MID1_ENST00000453318.2_Intron|MID1_ENST00000380780.1_Intron|MID1_ENST00000380782.2_Intron|MID1_ENST00000380787.1_Intron|MID1_ENST00000380785.1_Intron|MID1_ENST00000380779.1_Intron	NM_000381.3|NM_033289.1	NP_000372.1|NP_150631.1	O15344	TRI18_HUMAN	midline 1						microtubule cytoskeleton organization (GO:0000226)|negative regulation of microtubule depolymerization (GO:0007026)|pattern specification process (GO:0007389)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein localization to microtubule (GO:0035372)	cytoplasm (GO:0005737)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	ligase activity (GO:0016874)|microtubule binding (GO:0008017)|phosphoprotein binding (GO:0051219)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(9)|ovary(2)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	26						AGAAATAAATAGGCCATGAGA	0.423																																																	0													137.0	131.0	133.0					X																	10437719		2203	4300	6503	SO:0001627	intron_variant	4281			Y13667	CCDS14138.1, CCDS75952.1, CCDS75953.1	Xp22	2014-06-18	2014-06-18		ENSG00000101871	ENSG00000101871		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"", ""Fibronectin type III domain containing"""	7095	protein-coding gene	gene with protein product	"""Opitz/BBB syndrome"""	300552				9354791, 9425238	Standard	NM_001098624		Approved	OS, FXY, TRIM18, RNF59	uc004cti.4	O15344	OTTHUMG00000021127	ENST00000317552.4:c.1285+17T>G	X.37:g.10437719A>C		Somatic		WXS	Illumina HiSeq	Phase_I	B2RCG2|O75361|Q9BZX5	Missense_Mutation	SNP	ENST00000317552.4	37	CCDS14138.1																																																																																				0.423	MID1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055738.1			
KMT2D	8085	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	49442951	49442951	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01D-0966-08	TCGA-A3-3308-11A-01D-0966-08	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	30f89396-6b77-4592-908c-39cc24a829da	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr12:49442951A>T	ENST00000301067.7	-	12	3956	c.3957T>A	c.(3955-3957)caT>caA	p.H1319Q		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	1319	Arg-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										CACGTCCTCCATGGGCTCCTC	0.572																																																	0													48.0	51.0	50.0					12																	49442951		1980	4146	6126	SO:0001583	missense	8085			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.3957T>A	12.37:g.49442951A>T	ENSP00000301067:p.His1319Gln	Somatic		WXS	Illumina HiSeq	Phase_I	O14687	Missense_Mutation	SNP	ENST00000301067.7	37	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	A	12.74	2.028464	0.35797	.	.	ENSG00000167548	ENST00000301067	T	0.79033	-1.23	5.78	0.768	0.18487	.	0.000000	0.36555	N	0.002535	T	0.61110	0.2321	N	0.22421	0.69	0.24821	N	0.992582	D	0.54601	0.967	B	0.41036	0.346	T	0.59032	-0.7530	10	0.87932	D	0	.	9.1674	0.37060	0.555:0.0:0.445:0.0	.	1319	O14686	MLL2_HUMAN	Q	1319	ENSP00000301067:H1319Q	ENSP00000301067:H1319Q	H	-	3	2	MLL2	47729218	0.003000	0.15002	0.997000	0.53966	0.963000	0.63663	-0.555000	0.05999	0.106000	0.17784	0.260000	0.18958	CAT		0.572	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			
MSR1	4481	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	15967631	15967631	+	Nonsense_Mutation	SNP	G	G	T			TCGA-A3-3308-01A-01D-0966-08	TCGA-A3-3308-11A-01D-0966-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	30f89396-6b77-4592-908c-39cc24a829da	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr8:15967631G>T	ENST00000262101.5	-	10	1440	c.1319C>A	c.(1318-1320)tCa>tAa	p.S440*	MSR1_ENST00000355282.2_Nonsense_Mutation_p.S377*|MSR1_ENST00000445506.2_Nonsense_Mutation_p.S458*|MSR1_ENST00000350896.3_Nonsense_Mutation_p.S377*			P21757	MSRE_HUMAN	macrophage scavenger receptor 1	440	SRCR. {ECO:0000255|PROSITE- ProRule:PRU00196}.				cholesterol transport (GO:0030301)|lipoprotein transport (GO:0042953)|plasma lipoprotein particle clearance (GO:0034381)|positive regulation of cholesterol storage (GO:0010886)|positive regulation of macrophage derived foam cell differentiation (GO:0010744)|receptor-mediated endocytosis (GO:0006898)	collagen trimer (GO:0005581)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|integral component of plasma membrane (GO:0005887)|low-density lipoprotein particle (GO:0034362)|plasma membrane (GO:0005886)	low-density lipoprotein particle binding (GO:0030169)|scavenger receptor activity (GO:0005044)			haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(7)|lung(14)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	37				Colorectal(111;0.00475)|COAD - Colon adenocarcinoma(73;0.0164)		TTCAGAATGTGAACAGGCTCT	0.378																																																	0													94.0	95.0	95.0					8																	15967631		2203	4300	6503	SO:0001587	stop_gained	4481			D13263	CCDS5995.1, CCDS5996.1, CCDS5997.1	8p22	2006-02-22			ENSG00000038945	ENSG00000038945		"""CD molecules"""	7376	protein-coding gene	gene with protein product		153622				2251254	Standard	NM_138715		Approved	SCARA1, CD204	uc003wwz.3	P21757	OTTHUMG00000094809	ENST00000262101.5:c.1319C>A	8.37:g.15967631G>T	ENSP00000262101:p.Ser440*	Somatic		WXS	Illumina HiSeq	Phase_I	D3DSP3|O60505|P21759|Q45F10	Nonsense_Mutation	SNP	ENST00000262101.5	37	CCDS5995.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.614835	0.87359	.	.	ENSG00000038945	ENST00000350896;ENST00000262101;ENST00000445506;ENST00000355282	.	.	.	5.08	3.17	0.36434	.	0.947166	0.08646	N	0.914733	.	.	.	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	.	.	.	.	0.09590	T	0.72	.	7.351	0.26691	0.0:0.1823:0.6291:0.1886	.	.	.	.	X	377;440;458;377	.	ENSP00000262101:S440X	S	-	2	0	MSR1	16012002	0.883000	0.30277	0.400000	0.26346	0.391000	0.30476	1.658000	0.37376	2.515000	0.84797	0.650000	0.86243	TCA		0.378	MSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211627.2			
MYO1D	4642	broad.mit.edu;hgsc.bcm.edu	37	17	30986144	30986144	+	Silent	SNP	C	C	T			TCGA-A3-3308-01A-01D-0966-08	TCGA-A3-3308-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f89396-6b77-4592-908c-39cc24a829da	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr17:30986144C>T	ENST00000318217.5	-	17	2638	c.2334G>A	c.(2332-2334)acG>acA	p.T778T	MYO1D_ENST00000579584.1_Silent_p.T778T|RP11-220C2.1_ENST00000582272.1_RNA|MYO1D_ENST00000394649.4_Silent_p.T690T	NM_015194.1	NP_056009.1	O94832	MYO1D_HUMAN	myosin ID	778					early endosome to recycling endosome transport (GO:0061502)|negative regulation of phosphatase activity (GO:0010923)	axolemma (GO:0030673)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)|smooth endoplasmic reticulum (GO:0005790)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|microfilament motor activity (GO:0000146)			breast(1)|central_nervous_system(1)|endometrium(6)|kidney(2)|large_intestine(8)|lung(14)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	39			BRCA - Breast invasive adenocarcinoma(9;0.0362)			TATTGAAAATCGTCTGCAGGG	0.498											OREG0024311	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													98.0	84.0	89.0					17																	30986144		2203	4300	6503	SO:0001819	synonymous_variant	4642			AB018270	CCDS32615.1	17q11-q12	2014-06-12				ENSG00000176658		"""Myosins / Myosin superfamily : Class I"""	7598	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 108"""	606539				8884266	Standard	NM_015194		Approved	KIAA0727, myr4, PPP1R108	uc002hho.1	O94832		ENST00000318217.5:c.2334G>A	17.37:g.30986144C>T		Somatic	821	WXS	Illumina HiSeq	Phase_I	A6H8V3|Q8NHP9	Silent	SNP	ENST00000318217.5	37	CCDS32615.1																																																																																				0.498	MYO1D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447457.1			
MYOM1	8736	broad.mit.edu;hgsc.bcm.edu	37	18	3155065	3155065	+	Missense_Mutation	SNP	C	C	T	rs570677625		TCGA-A3-3308-01A-01D-0966-08	TCGA-A3-3308-11A-01D-0966-08	C	C	C	T	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	30f89396-6b77-4592-908c-39cc24a829da	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr18:3155065C>T	ENST00000356443.4	-	11	1856	c.1523G>A	c.(1522-1524)gGa>gAa	p.G508E	MYOM1_ENST00000400569.3_Missense_Mutation_p.G508E|MYOM1_ENST00000261606.7_Missense_Mutation_p.G508E	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	508					muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)	p.G508E(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						AGCTGGGGCTCCTTCAATCTC	0.527													C|||	1	0.000199681	0.0	0.0	5008	,	,		17634	0.0		0.0	False		,,,				2504	0.001																1	Substitution - Missense(1)	lung(1)											48.0	48.0	48.0					18																	3155065		1986	4158	6144	SO:0001583	missense	8736			AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7613	protein-coding gene	gene with protein product	"""skelemin"""	603508	"""myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa"""			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.1523G>A	18.37:g.3155065C>T	ENSP00000348821:p.Gly508Glu	Somatic		WXS	Illumina HiSeq	Phase_I	Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	ENST00000356443.4	37	CCDS45824.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.601352	0.87055	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.60299	0.2;0.2;0.2	4.88	4.88	0.63580	Fibronectin, type III (1);	0.055744	0.64402	D	0.000001	T	0.73171	0.3553	M	0.67700	2.07	0.58432	D	0.999997	D;D	0.89917	1.0;0.999	D;D	0.81914	0.995;0.988	T	0.68569	-0.5374	10	0.21540	T	0.41	.	18.2214	0.89903	0.0:1.0:0.0:0.0	.	508;508	P52179-2;P52179	.;MYOM1_HUMAN	E	508	ENSP00000348821:G508E;ENSP00000383413:G508E;ENSP00000261606:G508E	ENSP00000261606:G508E	G	-	2	0	MYOM1	3145065	1.000000	0.71417	0.998000	0.56505	0.850000	0.48378	7.577000	0.82486	2.528000	0.85240	0.650000	0.86243	GGA		0.527	MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2		NM_003803	
NCAPG2	54892	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	158447321	158447321	+	Silent	SNP	T	T	C			TCGA-A3-3308-01A-01D-0966-08	TCGA-A3-3308-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f89396-6b77-4592-908c-39cc24a829da	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr7:158447321T>C	ENST00000409423.1	-	23	2884	c.2712A>G	c.(2710-2712)caA>caG	p.Q904Q	NCAPG2_ENST00000409339.3_Silent_p.Q904Q|NCAPG2_ENST00000449727.2_Silent_p.Q904Q|NCAPG2_ENST00000275830.10_Silent_p.Q696Q|NCAPG2_ENST00000356309.3_Silent_p.Q904Q|NCAPG2_ENST00000541468.1_Silent_p.Q405Q	NM_001281932.1	NP_001268861.1	Q86XI2	CNDG2_HUMAN	non-SMC condensin II complex, subunit G2	904					chromosome condensation (GO:0030261)|inner cell mass cell proliferation (GO:0001833)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	methylated histone binding (GO:0035064)			NS(1)|breast(1)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	39	Ovarian(565;0.152)	all_cancers(7;3.44e-11)|all_epithelial(9;3.05e-05)|all_hematologic(28;0.014)	OV - Ovarian serous cystadenocarcinoma(82;0.00174)	UCEC - Uterine corpus endometrioid carcinoma (81;0.187)|STAD - Stomach adenocarcinoma(7;0.18)		GCTGTAAGAGTTGCATCTGAA	0.463																																																	0													184.0	178.0	180.0					7																	158447321		1944	4150	6094	SO:0001819	synonymous_variant	54892			BC043404	CCDS43686.1, CCDS64816.1	7q36.3	2006-09-04	2006-09-04	2006-09-04	ENSG00000146918	ENSG00000146918			21904	protein-coding gene	gene with protein product		608532	"""leucine zipper protein 5"""	LUZP5		14532007	Standard	NM_001281933		Approved	FLJ20311, MTB, CAP-G2, hCAP-G2	uc003wnv.1	Q86XI2	OTTHUMG00000151438	ENST00000409423.1:c.2712A>G	7.37:g.158447321T>C		Somatic		WXS	Illumina HiSeq	Phase_I	A4D228|Q7Z3J9|Q8WUG8|Q9BRX6|Q9H8S2|Q9H9K6	Silent	SNP	ENST00000409423.1	37	CCDS43686.1	.	.	.	.	.	.	.	.	.	.	T	0.020	-1.438998	0.01098	.	.	ENSG00000146918	ENST00000441982	.	.	.	5.79	-4.61	0.03380	.	.	.	.	.	T	0.17831	0.0428	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.25745	-1.0123	4	.	.	.	-4.8509	2.0956	0.03667	0.169:0.2884:0.1117:0.4309	.	.	.	.	S	706	.	.	N	-	2	0	NCAPG2	158140082	0.005000	0.15991	0.006000	0.13384	0.001000	0.01503	-1.762000	0.01803	-0.910000	0.03847	-0.366000	0.07423	AAC		0.463	NCAPG2-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327111.1		NM_017760	
NLRP7	199713	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	55451743	55451743	+	Silent	SNP	G	G	A			TCGA-A3-3308-01A-01D-0966-08	TCGA-A3-3308-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f89396-6b77-4592-908c-39cc24a829da	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr19:55451743G>A	ENST00000590030.1	-	3	484	c.444C>T	c.(442-444)gaC>gaT	p.D148D	NLRP7_ENST00000588756.1_Silent_p.D148D|NLRP7_ENST00000340844.2_Silent_p.D148D|NLRP7_ENST00000448121.2_Silent_p.D148D|NLRP7_ENST00000592784.1_Silent_p.D148D|NLRP7_ENST00000328092.5_Silent_p.D148D|NLRP7_ENST00000446217.1_Silent_p.D176D			Q8WX94	NALP7_HUMAN	NLR family, pyrin domain containing 7	148							ATP binding (GO:0005524)			autonomic_ganglia(1)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(17)|liver(1)|lung(33)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	73				GBM - Glioblastoma multiforme(193;0.0325)		GAGTGACGTCGTCATGGAAAT	0.493																																																	0													252.0	270.0	264.0					19																	55451743		2203	4300	6503	SO:0001819	synonymous_variant	199713			AF464765	CCDS12912.1, CCDS33109.1, CCDS46183.1	19q13.42	2008-02-05	2006-12-08	2006-12-08		ENSG00000167634		"""Nucleotide-binding domain and leucine rich repeat containing"""	22947	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 7"""	609661	"""NACHT, leucine rich repeat and PYD containing 7"""	NALP7		12563287, 12019269	Standard	NM_139176		Approved	PYPAF3, NOD12, PAN7, CLR19.4	uc002qii.4	Q8WX94		ENST00000590030.1:c.444C>T	19.37:g.55451743G>A		Somatic		WXS	Illumina HiSeq	Phase_I	E9PE16|Q32MH8|Q7RTR1	Silent	SNP	ENST00000590030.1	37	CCDS33109.1																																																																																				0.493	NLRP7-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000451396.1		NM_139176	
NOS1	4842	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	117672374	117672374	+	Silent	SNP	A	A	T			TCGA-A3-3308-01A-01D-0966-08	TCGA-A3-3308-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f89396-6b77-4592-908c-39cc24a829da	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr12:117672374A>T	ENST00000338101.4	-	21	3337	c.3333T>A	c.(3331-3333)gcT>gcA	p.A1111A	NOS1_ENST00000317775.6_Silent_p.A1077A|NOS1_ENST00000344089.3_3'UTR			Q8WY41	NANO1_HUMAN	nitric oxide synthase 1 (neuronal)	0					cell migration (GO:0016477)|epithelial cell migration (GO:0010631)|negative regulation of translation (GO:0017148)	cytoplasm (GO:0005737)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|translation repressor activity (GO:0030371)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(21)|lung(43)|ovary(3)|pancreas(1)|prostate(6)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	117	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.0561)		TGTTACCTAAAGCCGTGTTCC	0.587																																					Esophageal Squamous(162;1748 2599 51982 52956)												0													48.0	50.0	50.0					12																	117672374		2004	4176	6180	SO:0001819	synonymous_variant	4842				CCDS41842.1, CCDS55890.1	12q24.22	2013-09-19			ENSG00000089250	ENSG00000089250	1.14.13.39		7872	protein-coding gene	gene with protein product		163731		NOS		1385308, 7682706	Standard	NM_001204213		Approved	nNOS	uc001twn.2	P29475	OTTHUMG00000137376	ENST00000338101.4:c.3333T>A	12.37:g.117672374A>T		Somatic		WXS	Illumina HiSeq	Phase_I		Silent	SNP	ENST00000338101.4	37	CCDS55890.1																																																																																				0.587	NOS1-002	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000268053.1			
NYNRIN	57523	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	24878537	24878537	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3308-01A-01D-0966-08	TCGA-A3-3308-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f89396-6b77-4592-908c-39cc24a829da	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr14:24878537G>A	ENST00000382554.3	+	4	1855	c.1537G>A	c.(1537-1539)Gct>Act	p.A513T		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	513					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						AGAGGGACCCGCTCCAGTGCT	0.572																																																	0													39.0	42.0	41.0					14																	24878537		1934	4128	6062	SO:0001583	missense	57523			AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"""Cousin of GIN1"""		"""KIAA1305"""	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.1537G>A	14.37:g.24878537G>A	ENSP00000371994:p.Ala513Thr	Somatic		WXS	Illumina HiSeq	Phase_I	Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	ENST00000382554.3	37	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	g	7.747	0.702554	0.15172	.	.	ENSG00000205978	ENST00000382554	T	0.09817	2.94	4.63	-3.59	0.04583	.	.	.	.	.	T	0.03348	0.0097	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.01281	0.0	T	0.44314	-0.9336	9	0.07990	T	0.79	.	2.4094	0.04420	0.2503:0.0823:0.4134:0.2539	.	513	Q9P2P1	NYNRI_HUMAN	T	513	ENSP00000371994:A513T	ENSP00000371994:A513T	A	+	1	0	NYNRIN	23948377	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-0.413000	0.07123	-0.640000	0.05495	-2.194000	0.00310	GCT		0.572	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			
OR1I1	126370	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	15198108	15198108	+	Missense_Mutation	SNP	G	G	A	rs146090785	byFrequency	TCGA-A3-3308-01A-01D-0966-08	TCGA-A3-3308-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f89396-6b77-4592-908c-39cc24a829da	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr19:15198108G>A	ENST00000209540.2	+	1	318	c.232G>A	c.(232-234)Gtc>Atc	p.V78I		NM_001004713.1	NP_001004713.1	O60431	OR1I1_HUMAN	olfactory receptor, family 1, subfamily I, member 1	78						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(3)|ovary(2)|stomach(2)	20						CTCCACCACCGTCCCCAAGAT	0.542													G|||	2	0.000399361	0.0015	0.0	5008	,	,		22262	0.0		0.0	False		,,,				2504	0.0																0								G	ILE/VAL	8,4398	14.3+/-33.2	0,8,2195	225.0	151.0	176.0		232	2.6	1.0	19	dbSNP_134	176	0,8600		0,0,4300	yes	missense	OR1I1	NM_001004713.1	29	0,8,6495	AA,AG,GG		0.0,0.1816,0.0615	benign	78/356	15198108	8,12998	2203	4300	6503	SO:0001583	missense	126370			AC004794	CCDS32937.1	19p13.1	2012-08-09				ENSG00000094661		"""GPCR / Class A : Olfactory receptors"""	8207	protein-coding gene	gene with protein product							Standard	NM_001004713		Approved	OR1I1P, OR19-20, OR1I1Q	uc010xoe.2	O60431		ENST00000209540.2:c.232G>A	19.37:g.15198108G>A	ENSP00000209540:p.Val78Ile	Somatic		WXS	Illumina HiSeq	Phase_I	Q96R92	Missense_Mutation	SNP	ENST00000209540.2	37	CCDS32937.1	.	.	.	.	.	.	.	.	.	.	g	8.568	0.879384	0.17467	0.001816	0.0	ENSG00000094661	ENST00000209540	T	0.02787	4.16	4.84	2.61	0.31194	GPCR, rhodopsin-like superfamily (1);	0.385935	0.15654	U	0.251234	T	0.02083	0.0065	L	0.28400	0.85	0.25990	N	0.982257	B	0.22800	0.075	B	0.23150	0.044	T	0.46020	-0.9221	10	0.15499	T	0.54	.	4.0416	0.09753	0.2181:0.1973:0.5846:0.0	.	78	O60431	OR1I1_HUMAN	I	78	ENSP00000209540:V78I	ENSP00000209540:V78I	V	+	1	0	OR1I1	15059108	0.000000	0.05858	0.980000	0.43619	0.659000	0.38960	-1.063000	0.03465	1.273000	0.44346	-0.258000	0.10820	GTC		0.542	OR1I1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465665.1			
OR2L2	26246	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	248201987	248201987	+	Missense_Mutation	SNP	T	T	C			TCGA-A3-3308-01A-01D-0966-08	TCGA-A3-3308-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f89396-6b77-4592-908c-39cc24a829da	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:248201987T>C	ENST00000366479.2	+	1	514	c.418T>C	c.(418-420)Tgt>Cgt	p.C140R	OR2L13_ENST00000366478.2_Intron	NM_001004686.2	NP_001004686.1	Q8NH16	OR2L2_HUMAN	olfactory receptor, family 2, subfamily L, member 2	140						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(28)|ovary(1)|skin(4)|urinary_tract(1)	42	all_cancers(71;0.000149)|all_epithelial(71;1.27e-05)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.127)|Lung NSC(105;0.136)		OV - Ovarian serous cystadenocarcinoma(106;0.0278)			CAAAAGAGTGTGTGTGATGAT	0.448																																																	0													189.0	167.0	175.0					1																	248201987		2203	4300	6503	SO:0001583	missense	26246			X64978	CCDS31103.1	1q44	2012-08-09			ENSG00000203663	ENSG00000203663		"""GPCR / Class A : Olfactory receptors"""	8266	protein-coding gene	gene with protein product				OR2L4P, OR2L12		1370859	Standard	NM_001004686		Approved	HTPCRH07, HSHTPCRH07	uc001idw.3	Q8NH16	OTTHUMG00000040214	ENST00000366479.2:c.418T>C	1.37:g.248201987T>C	ENSP00000355435:p.Cys140Arg	Somatic		WXS	Illumina HiSeq	Phase_I	Q2M3T5	Missense_Mutation	SNP	ENST00000366479.2	37	CCDS31103.1	.	.	.	.	.	.	.	.	.	.	.	10.50	1.366821	0.24771	.	.	ENSG00000203663	ENST00000366479	T	0.00388	7.59	1.9	1.9	0.25705	GPCR, rhodopsin-like superfamily (1);	0.000000	0.34386	U	0.004017	T	0.00241	0.0007	N	0.10972	0.075	0.19300	N	0.999977	P	0.37083	0.581	P	0.44921	0.464	T	0.51387	-0.8712	10	0.72032	D	0.01	.	9.0367	0.36291	0.0:0.0:0.0:1.0	.	140	Q8NH16	OR2L2_HUMAN	R	140	ENSP00000355435:C140R	ENSP00000355435:C140R	C	+	1	0	OR2L2	246268610	0.005000	0.15991	0.092000	0.20876	0.081000	0.17604	0.249000	0.18216	0.746000	0.32786	0.163000	0.16589	TGT		0.448	OR2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096871.1		NM_001004686	
OR5H2	79310	broad.mit.edu;hgsc.bcm.edu	37	3	98001737	98001737	+	Silent	SNP	G	G	A			TCGA-A3-3308-01A-01D-0966-08	TCGA-A3-3308-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f89396-6b77-4592-908c-39cc24a829da	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr3:98001737G>A	ENST00000355273.2	+	1	6	c.6G>A	c.(4-6)tcG>tcA	p.S2S	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	2						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						CAGGGATGTCGAATGAGGACA	0.398																																																	0													149.0	142.0	144.0					3																	98001737		2203	4300	6503	SO:0001819	synonymous_variant	79310				CCDS33801.1	3q11.2	2013-09-23			ENSG00000197938	ENSG00000197938		"""GPCR / Class A : Olfactory receptors"""	14752	protein-coding gene	gene with protein product							Standard	NM_001005482		Approved		uc003dsj.1	Q8NGV7	OTTHUMG00000160080	ENST00000355273.2:c.6G>A	3.37:g.98001737G>A		Somatic		WXS	Illumina HiSeq	Phase_I	Q6IF87	Silent	SNP	ENST00000355273.2	37	CCDS33801.1																																																																																				0.398	OR5H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359113.2			
PHF2	5253	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	96415638	96415638	+	Silent	SNP	C	C	T	rs539206245	byFrequency	TCGA-A3-3308-01A-01D-0966-08	TCGA-A3-3308-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f89396-6b77-4592-908c-39cc24a829da	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr9:96415638C>T	ENST00000359246.4	+	6	1147	c.780C>T	c.(778-780)caC>caT	p.H260H	PHF2_ENST00000375376.4_Intron	NM_005392.3	NP_005383.3	O75151	PHF2_HUMAN	PHD finger protein 2	260	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				liver development (GO:0001889)|negative regulation of chromatin silencing at rDNA (GO:0061188)|protein demethylation (GO:0006482)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)	dioxygenase activity (GO:0051213)|histone demethylase activity (H3-K9 specific) (GO:0032454)|iron ion binding (GO:0005506)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(6)|large_intestine(9)|lung(14)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40		Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;9.11e-28)		CCTGGTACCACGTGCTCAAGG	0.602													C|||	2	0.000399361	0.0	0.0	5008	,	,		19530	0.0		0.0	False		,,,				2504	0.002																0													98.0	79.0	85.0					9																	96415638		2203	4300	6503	SO:0001819	synonymous_variant	5253			AF043725	CCDS35069.1	9q22	2013-01-28			ENSG00000197724	ENSG00000197724		"""Chromatin-modifying enzymes / K-demethylases"", ""Zinc fingers, PHD-type"""	8920	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 1E"", ""centromere protein 35"""	604351				10051327, 20129925	Standard	NM_005392		Approved	KIAA0662, JHDM1E, CENP-35	uc004aub.3	O75151	OTTHUMG00000020253	ENST00000359246.4:c.780C>T	9.37:g.96415638C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q4VXG0|Q8N3K2|Q9Y6N4	Silent	SNP	ENST00000359246.4	37	CCDS35069.1																																																																																				0.602	PHF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053162.1		NM_005392	
PPIL4	85313	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	149838510	149838510	+	Missense_Mutation	SNP	A	A	C			TCGA-A3-3308-01A-01D-0966-08	TCGA-A3-3308-11A-01D-0966-08	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	PGM			Illumina GAIIx	30f89396-6b77-4592-908c-39cc24a829da	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr6:149838510A>C	ENST00000253329.2	-	11	1091	c.1059T>G	c.(1057-1059)gaT>gaG	p.D353E	PPIL4_ENST00000340881.2_5'UTR|RNU7-3P_ENST00000516435.1_RNA	NM_139126.3	NP_624311.1	Q8WUA2	PPIL4_HUMAN	peptidylprolyl isomerase (cyclophilin)-like 4	353	Lys-rich.				protein folding (GO:0006457)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)			endometrium(2)|kidney(4)|large_intestine(1)|lung(4)|prostate(1)|urinary_tract(1)	13		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;1.11e-11)|GBM - Glioblastoma multiforme(68;0.0885)		GCTTTACTTTATCTTTCAGAA	0.328																																																	0													165.0	141.0	149.0					6																	149838510		2203	4299	6502	SO:0001583	missense	85313				CCDS34550.1	6q25.1	2013-02-12			ENSG00000131013	ENSG00000131013		"""RNA binding motif (RRM) containing"""	15702	protein-coding gene	gene with protein product		607609					Standard	NM_139126		Approved		uc003qmo.2	Q8WUA2	OTTHUMG00000015788	ENST00000253329.2:c.1059T>G	6.37:g.149838510A>C	ENSP00000253329:p.Asp353Glu	Somatic		WXS	Illumina HiSeq	Phase_I	B2RD34|Q7Z3Q5	Missense_Mutation	SNP	ENST00000253329.2	37	CCDS34550.1	.	.	.	.	.	.	.	.	.	.	A	7.960	0.746784	0.15710	.	.	ENSG00000131013	ENST00000253329	T	0.13196	2.61	5.83	1.84	0.25277	.	0.230580	0.50627	N	0.000103	T	0.01189	0.0039	N	0.08118	0	0.80722	D	1	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.41680	-0.9495	10	0.07482	T	0.82	.	0.2616	0.00219	0.3104:0.2145:0.1488:0.3263	.	353;353	B3KRR4;Q8WUA2	.;PPIL4_HUMAN	E	353	ENSP00000253329:D353E	ENSP00000253329:D353E	D	-	3	2	PPIL4	149880203	0.937000	0.31787	1.000000	0.80357	0.988000	0.76386	0.008000	0.13197	0.438000	0.26450	0.402000	0.26972	GAT		0.328	PPIL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042642.1			
PPP1R7	5510	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	242102749	242102749	+	Missense_Mutation	SNP	G	G	C			TCGA-A3-3308-01A-01D-0966-08	TCGA-A3-3308-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f89396-6b77-4592-908c-39cc24a829da	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr2:242102749G>C	ENST00000234038.6	+	7	1121	c.647G>C	c.(646-648)gGg>gCg	p.G216A	PPP1R7_ENST00000402734.1_Missense_Mutation_p.G157A|PPP1R7_ENST00000406106.3_Missense_Mutation_p.G216A|PPP1R7_ENST00000485630.1_3'UTR|PPP1R7_ENST00000401987.1_Missense_Mutation_p.G173A|PPP1R7_ENST00000407025.1_Missense_Mutation_p.G216A|PPP1R7_ENST00000272983.8_Missense_Mutation_p.G173A|PPP1R7_ENST00000404405.3_Missense_Mutation_p.G210A	NM_001282412.1|NM_001282413.1|NM_002712.1	NP_001269341.1|NP_001269342.1|NP_002703.1	Q15435	PP1R7_HUMAN	protein phosphatase 1, regulatory subunit 7	216					positive regulation of protein dephosphorylation (GO:0035307)|regulation of catalytic activity (GO:0050790)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	enzyme regulator activity (GO:0030234)|protein phosphatase type 1 regulator activity (GO:0008599)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(9)|ovary(3)	23		all_cancers(19;6.1e-33)|all_epithelial(40;1.07e-13)|Breast(86;0.000141)|Renal(207;0.00528)|all_lung(227;0.0446)|Ovarian(221;0.104)|Lung NSC(271;0.115)|Esophageal squamous(248;0.131)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.92e-32)|all cancers(36;5.35e-29)|OV - Ovarian serous cystadenocarcinoma(60;3.4e-14)|Kidney(56;4.23e-09)|KIRC - Kidney renal clear cell carcinoma(57;4.24e-08)|BRCA - Breast invasive adenocarcinoma(100;3.56e-06)|Lung(119;0.000588)|LUSC - Lung squamous cell carcinoma(224;0.0048)|Colorectal(34;0.0137)|COAD - Colon adenocarcinoma(134;0.096)		TTGTTTTTGGGGAAAAACAAA	0.493																																					NSCLC(62;446 1299 5417 11238 27640)												0													141.0	153.0	149.0					2																	242102749		2203	4300	6503	SO:0001583	missense	5510			AF067136	CCDS2546.1, CCDS63190.1, CCDS63192.1, CCDS63193.1, CCDS63194.1	2q37.3	2012-04-17	2011-10-04		ENSG00000115685	ENSG00000115685		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9295	protein-coding gene	gene with protein product		602877	"""protein phosphatase 1, regulatory (inhibitor) subunit 7"""			7498485, 7670491, 10231361	Standard	NM_001282413		Approved	sds22	uc002wat.1	Q15435	OTTHUMG00000133390	ENST00000234038.6:c.647G>C	2.37:g.242102749G>C	ENSP00000234038:p.Gly216Ala	Somatic		WXS	Illumina HiSeq	Phase_I	B4DFD4|B5MCY6|Q9UQE5|Q9UQE6|Q9Y6K4	Missense_Mutation	SNP	ENST00000234038.6	37	CCDS2546.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	28.5|28.5	4.927967|4.927967	0.92389|0.92389	.|.	.|.	ENSG00000115685|ENSG00000115685	ENST00000438799;ENST00000402734;ENST00000423280;ENST00000407025;ENST00000272983;ENST00000234038;ENST00000404405;ENST00000406106;ENST00000401987|ENST00000450367	T;T;T;T;T;T;T;T;T|T	0.23950|0.23754	1.88;1.88;1.88;1.88;1.88;1.88;2.26;1.88;1.88|1.89	5.03|5.03	5.03|5.03	0.67393|0.67393	.|.	0.000000|0.000000	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.25531|0.25531	0.0621|0.0621	N|N	0.10809|0.10809	0.05|0.05	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|.	0.97110|.	1.0;1.0;0.999;1.0;0.996;1.0|.	T|T	0.21552|0.21552	-1.0242|-1.0242	10|8	0.51188|0.66056	T|D	0.08|0.02	-28.8491|-28.8491	18.7368|18.7368	0.91757|0.91757	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	200;157;173;216;216;210|.	C9JD73;C9J177;Q15435-2;Q15435;Q15435-3;B5MBZ8|.	.;.;.;PP1R7_HUMAN;.;.|.	A|R	200;157;157;216;173;216;210;216;173|191	ENSP00000396376:G200A;ENSP00000385012:G157A;ENSP00000412092:G157A;ENSP00000385657:G216A;ENSP00000272983:G173A;ENSP00000234038:G216A;ENSP00000385498:G210A;ENSP00000385022:G216A;ENSP00000385466:G173A|ENSP00000392373:G191R	ENSP00000234038:G216A|ENSP00000392373:G191R	G|G	+|+	2|1	0|0	PPP1R7|PPP1R7	241751422|241751422	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	9.503000|9.503000	0.97984|0.97984	2.488000|2.488000	0.83962|0.83962	0.655000|0.655000	0.94253|0.94253	GGG|GGA		0.493	PPP1R7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257244.4		NM_002712	
PRG3	10394	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	57147060	57147060	+	Silent	SNP	C	C	T			TCGA-A3-3308-01A-01D-0966-08	TCGA-A3-3308-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f89396-6b77-4592-908c-39cc24a829da	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr11:57147060C>T	ENST00000287143.2	-	3	391	c.282G>A	c.(280-282)agG>agA	p.R94R		NM_006093.3	NP_006084.2	Q8TBJ4	LPPR1_HUMAN	proteoglycan 3	0					nervous system development (GO:0007399)	integral component of membrane (GO:0016021)	catalytic activity (GO:0003824)			large_intestine(3)|lung(5)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	13						TGTCTTCTTCCCTGGGGCACT	0.517																																					Melanoma(154;1456 2519 19358 45229)												0													132.0	115.0	121.0					11																	57147060		2201	4296	6497	SO:0001819	synonymous_variant	10394			AF132209	CCDS7954.1	11q12.1	2008-02-05			ENSG00000156575	ENSG00000156575			9363	protein-coding gene	gene with protein product		606814				10318872, 11170744	Standard	NM_006093		Approved	MBPH	uc001njv.2	Q9Y2Y8	OTTHUMG00000167026	ENST00000287143.2:c.282G>A	11.37:g.57147060C>T		Somatic		WXS	Illumina HiSeq	Phase_I	Q5VX23|Q9NXE2	Silent	SNP	ENST00000287143.2	37	CCDS7954.1																																																																																				0.517	PRG3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392467.1		NM_006093	
PTEN	5728	hgsc.bcm.edu	37	10	89692949	89692949	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3308-01A-01D-0966-08	TCGA-A3-3308-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f89396-6b77-4592-908c-39cc24a829da	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr10:89692949delT	ENST00000371953.3	+	5	1790	c.433delT	c.(433-435)tttfs	p.F145fs		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	145	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.Y27fs*1(2)|p.F145I(1)|p.A121_F145del(1)|p.F145_L146del(1)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TCGGGGCAAATTTTTAAAGGC	0.388		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																													yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	phosphatase and tensin homolog gene		"""L, E, M, O"""	53	Whole gene deletion(37)|Deletion - Frameshift(8)|Unknown(5)|Deletion - In frame(2)|Substitution - Missense(1)	prostate(16)|central_nervous_system(11)|skin(6)|lung(5)|haematopoietic_and_lymphoid_tissue(4)|endometrium(3)|breast(3)|ovary(3)|soft_tissue(1)|urinary_tract(1)											79.0	79.0	79.0					10																	89692949		2203	4300	6503	SO:0001589	frameshift_variant	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.433delT	10.37:g.89692949delT	ENSP00000361021:p.Phe145fs	Somatic		WXS	Illumina HiSeq	Phase_I	B2R904|F2YHV0|O00633|O02679|Q6ICT7	Frame_Shift_Del	DEL	ENST00000371953.3	37	CCDS31238.1																																																																																				0.388	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1		NM_000314	
PTEN	5728	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	89712017	89712017	+	Splice_Site	SNP	G	G	A			TCGA-A3-3308-01A-01D-0966-08	TCGA-A3-3308-11A-01D-0966-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	30f89396-6b77-4592-908c-39cc24a829da	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr10:89712017G>A	ENST00000371953.3	+	6	1991		c.e6+1		PTEN_ENST00000472832.1_Splice_Site	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog						activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.?(5)|p.Y27fs*1(2)|p.G165_*404del(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		GGAACTTGCAGTAAGTGCTTG	0.343		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																													yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	phosphatase and tensin homolog gene		"""L, E, M, O"""	50	Whole gene deletion(37)|Deletion - Frameshift(7)|Unknown(5)|Deletion - In frame(1)	prostate(16)|central_nervous_system(11)|skin(6)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|ovary(3)|endometrium(2)|breast(2)|soft_tissue(1)|urinary_tract(1)|kidney(1)											139.0	138.0	138.0					10																	89712017		2203	4300	6503	SO:0001630	splice_region_variant	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.634+1G>A	10.37:g.89712017G>A		Somatic		WXS	Illumina HiSeq	Phase_I	B2R904|F2YHV0|O00633|O02679|Q6ICT7	Splice_Site	SNP	ENST00000371953.3	37	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.221541	0.79464	.	.	ENSG00000171862	ENST00000371953	.	.	.	5.85	5.85	0.93711	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.1698	0.98157	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	PTEN	89701997	1.000000	0.71417	1.000000	0.80357	0.958000	0.62258	9.365000	0.97139	2.777000	0.95525	0.585000	0.79938	.		0.343	PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1		NM_000314	Intron
PTK2B	2185	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	27301762	27301762	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3308-01A-01D-0966-08	TCGA-A3-3308-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f89396-6b77-4592-908c-39cc24a829da	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr8:27301762C>T	ENST00000397501.1	+	28	2996	c.2188C>T	c.(2188-2190)Ctc>Ttc	p.L730F	PTK2B_ENST00000397497.4_Missense_Mutation_p.L476F|PTK2B_ENST00000517339.1_Missense_Mutation_p.L730F|PTK2B_ENST00000338238.4_Missense_Mutation_p.L730F|PTK2B_ENST00000544172.1_Missense_Mutation_p.L730F|PTK2B_ENST00000420218.2_Missense_Mutation_p.L730F|PTK2B_ENST00000346049.5_Missense_Mutation_p.L730F	NM_173174.2	NP_775266.1	Q14289	FAK2_HUMAN	protein tyrosine kinase 2 beta	730	Pro-rich.				activation of Janus kinase activity (GO:0042976)|activation of Rac GTPase activity (GO:0032863)|apoptotic process (GO:0006915)|blood vessel endothelial cell migration (GO:0043534)|bone resorption (GO:0045453)|cell surface receptor signaling pathway (GO:0007166)|cellular defense response (GO:0006968)|cellular response to retinoic acid (GO:0071300)|chemokine-mediated signaling pathway (GO:0070098)|epidermal growth factor receptor signaling pathway (GO:0007173)|focal adhesion assembly (GO:0048041)|glial cell proliferation (GO:0014009)|integrin-mediated signaling pathway (GO:0007229)|ionotropic glutamate receptor signaling pathway (GO:0035235)|long-term synaptic potentiation (GO:0060291)|MAPK cascade (GO:0000165)|marginal zone B cell differentiation (GO:0002315)|negative regulation of apoptotic process (GO:0043066)|negative regulation of bone mineralization (GO:0030502)|negative regulation of cell proliferation (GO:0008285)|negative regulation of muscle cell apoptotic process (GO:0010656)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of potassium ion transport (GO:0043267)|neuron projection development (GO:0031175)|oocyte maturation (GO:0001556)|peptidyl-tyrosine autophosphorylation (GO:0038083)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of B cell chemotaxis (GO:2000538)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of JNK cascade (GO:0046330)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of translation (GO:0045727)|protein autophosphorylation (GO:0046777)|protein complex assembly (GO:0006461)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell adhesion (GO:0030155)|regulation of cell shape (GO:0008360)|regulation of establishment of cell polarity (GO:2000114)|regulation of inositol trisphosphate biosynthetic process (GO:0032960)|regulation of macrophage chemotaxis (GO:0010758)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000058)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)|response to calcium ion (GO:0051592)|response to cAMP (GO:0051591)|response to cocaine (GO:0042220)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to hormone (GO:0009725)|response to hydrogen peroxide (GO:0042542)|response to hypoxia (GO:0001666)|response to lithium ion (GO:0010226)|response to mechanical stimulus (GO:0009612)|response to osmotic stress (GO:0006970)|response to stress (GO:0006950)|signal complex assembly (GO:0007172)|signal transduction (GO:0007165)|sprouting angiogenesis (GO:0002040)|stress fiber assembly (GO:0043149)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	apical dendrite (GO:0097440)|axon (GO:0030424)|cell body (GO:0044297)|cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendrite (GO:0030425)|focal adhesion (GO:0005925)|growth cone (GO:0030426)|lamellipodium (GO:0030027)|membrane raft (GO:0045121)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)	ATP binding (GO:0005524)|calmodulin-dependent protein kinase activity (GO:0004683)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|lung(17)|ovary(4)|skin(12)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	47		Ovarian(32;2.72e-05)		UCEC - Uterine corpus endometrioid carcinoma (27;0.023)|Epithelial(17;6.61e-10)|BRCA - Breast invasive adenocarcinoma(99;0.226)|Colorectal(74;0.229)	Leflunomide(DB01097)	GCAAACCAACCTCCTGGCTCC	0.537																																																	0													119.0	105.0	110.0					8																	27301762		2203	4300	6503	SO:0001583	missense	2185			U33284	CCDS6057.1, CCDS6058.1	8p21.1	2013-02-18	2013-02-18		ENSG00000120899	ENSG00000120899			9612	protein-coding gene	gene with protein product		601212	"""protein tyrosine kinase 2 beta"", ""PTK2B protein tyrosine kinase 2 beta"""	FAK2		7544443, 7499242	Standard	NM_173174		Approved	CAKB, PYK2, RAFTK, PTK, CADTK	uc003xfp.2	Q14289	OTTHUMG00000102082	ENST00000397501.1:c.2188C>T	8.37:g.27301762C>T	ENSP00000380638:p.Leu730Phe	Somatic		WXS	Illumina HiSeq	Phase_I	D3DST0|Q13475|Q14290|Q16709|Q6PID4	Missense_Mutation	SNP	ENST00000397501.1	37	CCDS6057.1	.	.	.	.	.	.	.	.	.	.	C	12.42	1.931154	0.34096	.	.	ENSG00000120899	ENST00000397501;ENST00000539100;ENST00000338238;ENST00000544172;ENST00000346049;ENST00000420218;ENST00000517339;ENST00000397497	T;T;T;T;T;T;T	0.75260	-0.88;-0.92;-0.88;-0.88;-0.92;-0.92;-0.91	4.93	4.93	0.64822	.	0.112164	0.64402	D	0.000009	T	0.61337	0.2339	L	0.29908	0.895	0.47037	D	0.999297	B;B;B	0.32467	0.372;0.028;0.004	B;B;B	0.29267	0.1;0.032;0.005	T	0.58781	-0.7576	10	0.16896	T	0.51	.	15.6928	0.77469	0.0:1.0:0.0:0.0	.	476;730;730	E9PBI4;Q14289-2;Q14289	.;.;FAK2_HUMAN	F	730;735;730;730;730;730;730;476	ENSP00000380638:L730F;ENSP00000342242:L730F;ENSP00000440926:L730F;ENSP00000332816:L730F;ENSP00000391995:L730F;ENSP00000427931:L730F;ENSP00000380634:L476F	ENSP00000342242:L730F	L	+	1	0	PTK2B	27357679	1.000000	0.71417	1.000000	0.80357	0.657000	0.38888	3.298000	0.51818	2.542000	0.85734	0.655000	0.94253	CTC		0.537	PTK2B-009	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219916.1		NM_004103	
PTPRZ1	5803	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	121668608	121668608	+	Missense_Mutation	SNP	A	A	T			TCGA-A3-3308-01A-01D-0966-08	TCGA-A3-3308-11A-01D-0966-08	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	30f89396-6b77-4592-908c-39cc24a829da	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr7:121668608A>T	ENST00000393386.2	+	14	5402	c.4991A>T	c.(4990-4992)aAa>aTa	p.K1664I	PTPRZ1_ENST00000449182.1_Missense_Mutation_p.K804I	NM_001206838.1|NM_002851.2	NP_001193767.1|NP_002842.2	P23471	PTPRZ_HUMAN	protein tyrosine phosphatase, receptor-type, Z polypeptide 1	1664					axonogenesis (GO:0007409)|central nervous system development (GO:0007417)|hematopoietic progenitor cell differentiation (GO:0002244)|learning or memory (GO:0007611)|oligodendrocyte differentiation (GO:0048709)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of oligodendrocyte progenitor proliferation (GO:0070445)	integral component of plasma membrane (GO:0005887)|perineuronal net (GO:0072534)|proteinaceous extracellular matrix (GO:0005578)	protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(4)|kidney(12)|large_intestine(17)|liver(1)|lung(42)|ovary(4)|prostate(5)|skin(8)|upper_aerodigestive_tract(2)|urinary_tract(2)	106						ATTTCCAGGAAATGCTTCCAG	0.353																																																	0													142.0	124.0	130.0					7																	121668608		2203	4300	6503	SO:0001583	missense	5803			M93426	CCDS34740.1, CCDS56505.1	7q31.3	2013-02-11			ENSG00000106278	ENSG00000106278		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9685	protein-coding gene	gene with protein product		176891		PTPZ, PTPRZ		7736789, 8387522	Standard	NM_001206838		Approved	PTP18, RPTPB, phosphacan	uc003vjy.3	P23471	OTTHUMG00000157057	ENST00000393386.2:c.4991A>T	7.37:g.121668608A>T	ENSP00000377047:p.Lys1664Ile	Somatic		WXS	Illumina HiSeq	Phase_I	A4D0W5|C9JFM0|O76043|Q9UDR6	Missense_Mutation	SNP	ENST00000393386.2	37	CCDS34740.1	.	.	.	.	.	.	.	.	.	.	A	18.15	3.560131	0.65538	.	.	ENSG00000106278	ENST00000393386;ENST00000449182	T;T	0.78246	0.65;-1.16	5.8	5.8	0.92144	.	0.000000	0.64402	D	0.000001	D	0.84009	0.5378	L	0.43152	1.355	0.58432	D	0.999992	D;P;D	0.89917	1.0;0.864;0.992	D;P;P	0.71656	0.974;0.598;0.855	D	0.85668	0.1293	10	0.87932	D	0	.	16.1547	0.81649	1.0:0.0:0.0:0.0	.	803;804;1664	P23471-2;C9JFM0;P23471	.;.;PTPRZ_HUMAN	I	1664;804	ENSP00000377047:K1664I;ENSP00000410000:K804I	ENSP00000377047:K1664I	K	+	2	0	PTPRZ1	121455844	1.000000	0.71417	1.000000	0.80357	0.705000	0.40729	4.199000	0.58426	2.221000	0.72209	0.528000	0.53228	AAA		0.353	PTPRZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347288.1		NM_002851	
RAB11FIP1	80223	broad.mit.edu;hgsc.bcm.edu	37	8	37756812	37756812	+	Nonsense_Mutation	SNP	C	C	A			TCGA-A3-3308-01A-01D-0966-08	TCGA-A3-3308-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f89396-6b77-4592-908c-39cc24a829da	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr8:37756812C>A	ENST00000330843.4	-	1	160	c.148G>T	c.(148-150)Gag>Tag	p.E50*	RAB11FIP1_ENST00000522727.1_Intron|RAB11FIP1_ENST00000287263.4_Nonsense_Mutation_p.E50*	NM_001002814.2	NP_001002814.2	Q6WKZ4	RFIP1_HUMAN	RAB11 family interacting protein 1 (class I)	50	C2. {ECO:0000255|PROSITE- ProRule:PRU00041}.				protein transport (GO:0015031)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)				NS(1)|breast(1)|central_nervous_system(4)|endometrium(3)|large_intestine(6)|lung(20)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	49		Lung NSC(58;0.118)|all_lung(54;0.195)	LUSC - Lung squamous cell carcinoma(8;3.62e-11)			GCGTACTTCTCCTTGCCCACC	0.736																																																	0													13.0	16.0	15.0					8																	37756812		2193	4286	6479	SO:0001587	stop_gained	80223			AK092296	CCDS34881.1, CCDS34882.1	8p11.22	2005-10-04			ENSG00000156675	ENSG00000156675			30265	protein-coding gene	gene with protein product		608737				11786538, 11495908	Standard	NM_001002814		Approved	RCP, FLJ22622, FLJ22524, Rab11-FIP1	uc003xkm.2	Q6WKZ4	OTTHUMG00000164026	ENST00000330843.4:c.148G>T	8.37:g.37756812C>A	ENSP00000331342:p.Glu50*	Somatic		WXS	Illumina HiSeq	Phase_I	J3KNP0|Q307T1|Q6AZK4|Q6WKZ2|Q6WKZ6|Q86YV4|Q8TDL1|Q9H642	Nonsense_Mutation	SNP	ENST00000330843.4	37	CCDS34882.1	.	.	.	.	.	.	.	.	.	.	c	40	8.040966	0.98624	.	.	ENSG00000156675	ENST00000287263;ENST00000330843;ENST00000343853	.	.	.	5.05	5.05	0.67936	.	0.092057	0.47455	D	0.000234	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-30.5335	18.0352	0.89298	0.0:1.0:0.0:0.0	.	.	.	.	X	50	.	ENSP00000287263:E50X	E	-	1	0	RAB11FIP1	37875970	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.771000	0.68881	2.346000	0.79739	0.645000	0.84053	GAG		0.736	RAB11FIP1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000376816.1		NM_025151	
RCC1	1104	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	28858360	28858360	+	Missense_Mutation	SNP	T	T	A			TCGA-A3-3308-01A-01D-0966-08	TCGA-A3-3308-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f89396-6b77-4592-908c-39cc24a829da	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:28858360T>A	ENST00000373833.6	+	6	404	c.119T>A	c.(118-120)cTa>cAa	p.L40Q	RCC1_ENST00000398958.2_Missense_Mutation_p.L40Q|RCC1_ENST00000373832.1_Missense_Mutation_p.L40Q|RCC1_ENST00000373831.3_Missense_Mutation_p.L71Q			P18754	RCC1_HUMAN	regulator of chromosome condensation 1	40					chromosome segregation (GO:0007059)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic nuclear division (GO:0007067)|mitotic spindle organization (GO:0007052)|positive regulation of Ran GTPase activity (GO:0032853)|regulation of mitosis (GO:0007088)|spindle assembly (GO:0051225)|viral process (GO:0016032)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|nucleosomal DNA binding (GO:0031492)|Ran guanyl-nucleotide exchange factor activity (GO:0005087)			breast(1)|kidney(2)|large_intestine(6)|lung(4)|ovary(1)	14		Colorectal(325;3.46e-05)|Lung NSC(340;0.000318)|all_lung(284;0.000434)|Renal(390;0.00121)|Breast(348;0.00345)|all_neural(195;0.00989)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0261)|Medulloblastoma(700;0.123)		Colorectal(126;2.96e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|STAD - Stomach adenocarcinoma(196;0.00299)|KIRC - Kidney renal clear cell carcinoma(1967;0.0101)|BRCA - Breast invasive adenocarcinoma(304;0.022)|READ - Rectum adenocarcinoma(331;0.0649)		GTGCTGACACTAGGCCAGGGC	0.592																																																	0													56.0	57.0	57.0					1																	28858360		2203	4300	6503	SO:0001583	missense	1104			X12654	CCDS323.1, CCDS41295.1	1p35.3	2008-08-18	2005-05-09	2005-05-09	ENSG00000180198	ENSG00000180198			1913	protein-coding gene	gene with protein product		179710	"""chromosome condensation 1"""	CHC1		7851910	Standard	NM_001048199		Approved		uc001bqf.2	P18754	OTTHUMG00000003645	ENST00000373833.6:c.119T>A	1.37:g.28858360T>A	ENSP00000362939:p.Leu40Gln	Somatic		WXS	Illumina HiSeq	Phase_I	Q16269|Q6NT97	Missense_Mutation	SNP	ENST00000373833.6	37	CCDS323.1	.	.	.	.	.	.	.	.	.	.	T	25.9	4.683774	0.88639	.	.	ENSG00000180198	ENST00000398958;ENST00000427469;ENST00000434290;ENST00000373833;ENST00000419074;ENST00000373832;ENST00000373831;ENST00000411533;ENST00000430407	D;D;D;D;D;D;D;D;D	0.85088	-1.94;-1.94;-1.94;-1.94;-1.94;-1.94;-1.94;-1.94;-1.94	5.86	5.86	0.93980	Regulator of chromosome condensation/beta-lactamase-inhibitor protein II (2);	0.000000	0.85682	D	0.000000	D	0.92648	0.7664	M	0.83953	2.67	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.85130	0.984;0.997;0.973	D	0.93410	0.6768	10	0.66056	D	0.02	-10.2256	15.1337	0.72545	0.0:0.0:0.0:1.0	.	71;57;40	P18754-2;E9PAT9;P18754	.;.;RCC1_HUMAN	Q	40;40;48;40;40;40;71;57;40	ENSP00000381931:L40Q;ENSP00000402740:L40Q;ENSP00000405258:L48Q;ENSP00000362939:L40Q;ENSP00000402260:L40Q;ENSP00000362938:L40Q;ENSP00000362937:L71Q;ENSP00000413644:L57Q;ENSP00000394650:L40Q	ENSP00000362937:L71Q	L	+	2	0	RCC1	28730947	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	8.019000	0.88732	2.246000	0.74042	0.529000	0.55759	CTA		0.592	RCC1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010323.3		NM_001269	
RIF1	55183	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	152324541	152324541	+	Missense_Mutation	SNP	A	A	C	rs375183072		TCGA-A3-3308-01A-01D-0966-08	TCGA-A3-3308-11A-01D-0966-08	A	A	A	C	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	30f89396-6b77-4592-908c-39cc24a829da	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr2:152324541A>C	ENST00000243326.5	+	30	7111	c.6628A>C	c.(6628-6630)Ata>Cta	p.I2210L	RIF1_ENST00000453091.2_Missense_Mutation_p.I2210L|RIF1_ENST00000428287.2_Missense_Mutation_p.I2210L|RIF1_ENST00000444746.2_Missense_Mutation_p.I2210L|RIF1_ENST00000430328.2_Missense_Mutation_p.I2210L			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		TGCAGATCCAATATACCAAGC	0.353																																																	0													121.0	117.0	119.0					2																	152324541		2203	4300	6503	SO:0001583	missense	55183			AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.6628A>C	2.37:g.152324541A>C	ENSP00000243326:p.Ile2210Leu	Somatic		WXS	Illumina HiSeq	Phase_I	A0AVS0|Q9NS16	Missense_Mutation	SNP	ENST00000243326.5	37	CCDS2194.1	.	.	.	.	.	.	.	.	.	.	A	31	5.095437	0.94197	.	.	ENSG00000080345	ENST00000444746;ENST00000453091;ENST00000428287;ENST00000243326;ENST00000430328	T;T;T;T;T	0.14640	2.51;2.49;2.49;2.51;2.49	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	T	0.34803	0.0910	M	0.64997	1.995	0.80722	D	1	P;D	0.60160	0.928;0.987	P;D	0.71656	0.717;0.974	T	0.03184	-1.1063	10	0.56958	D	0.05	-22.0883	15.5077	0.75753	1.0:0.0:0.0:0.0	.	2210;2210	Q5UIP0;Q5UIP0-2	RIF1_HUMAN;.	L	2210	ENSP00000390181:I2210L;ENSP00000414615:I2210L;ENSP00000415691:I2210L;ENSP00000243326:I2210L;ENSP00000416123:I2210L	ENSP00000243326:I2210L	I	+	1	0	RIF1	152032787	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.022000	0.70839	2.143000	0.66587	0.482000	0.46254	ATA		0.353	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3			
RNF17	56163	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	25353868	25353868	+	Silent	SNP	T	T	C			TCGA-A3-3308-01A-01D-0966-08	TCGA-A3-3308-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f89396-6b77-4592-908c-39cc24a829da	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr13:25353868T>C	ENST00000255324.5	+	5	545	c.493T>C	c.(493-495)Tta>Cta	p.L165L	RNF17_ENST00000255326.4_3'UTR|RNF17_ENST00000255325.6_Silent_p.L165L|RNF17_ENST00000381921.1_Silent_p.L165L	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	165					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		TTTCGAACAGTTAAGCATTGC	0.363																																																	0													131.0	123.0	126.0					13																	25353868		2203	4300	6503	SO:0001819	synonymous_variant	56163			AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"""RING-type (C3HC4) zinc fingers"", ""Tudor domain containing"""	10060	protein-coding gene	gene with protein product	"""spermatogenesis associated 23"""	605793	"""tudor domain containing 4"""	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.493T>C	13.37:g.25353868T>C		Somatic		WXS	Illumina HiSeq	Phase_I	Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Silent	SNP	ENST00000255324.5	37	CCDS9308.2																																																																																				0.363	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1		NM_031994	
RPE65	6121	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	68906539	68906539	+	Missense_Mutation	SNP	C	C	A			TCGA-A3-3308-01A-01D-0966-08	TCGA-A3-3308-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f89396-6b77-4592-908c-39cc24a829da	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:68906539C>A	ENST00000262340.5	-	6	693	c.640G>T	c.(640-642)Gca>Tca	p.A214S		NM_000329.2	NP_000320.1	Q16518	RPE65_HUMAN	retinal pigment epithelium-specific protein 65kDa	214					cellular response to electrical stimulus (GO:0071257)|detection of light stimulus involved in visual perception (GO:0050908)|insulin receptor signaling pathway (GO:0008286)|phototransduction, visible light (GO:0007603)|regulation of rhodopsin gene expression (GO:0007468)|retina homeostasis (GO:0001895)|retina morphogenesis in camera-type eye (GO:0060042)|retinal metabolic process (GO:0042574)|retinoid metabolic process (GO:0001523)|visual perception (GO:0007601)|vitamin A metabolic process (GO:0006776)	endoplasmic reticulum (GO:0005783)|plasma membrane (GO:0005886)	all-trans-retinyl-ester hydrolase, 11-cis retinol forming activity (GO:0052885)|all-trans-retinyl-palmitate hydrolase, 11-cis retinol forming activity (GO:0052884)|metal ion binding (GO:0046872)|retinal isomerase activity (GO:0004744)			central_nervous_system(1)|kidney(3)|large_intestine(12)|lung(15)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	35						AACTCACCTGCTTGCAGTGGT	0.348																																																	0													84.0	87.0	86.0					1																	68906539		2203	4300	6503	SO:0001583	missense	6121			U18991	CCDS643.1	1p31	2014-05-13	2002-08-29		ENSG00000116745	ENSG00000116745	3.1.1.64		10294	protein-coding gene	gene with protein product	"""retinol isomerase"", ""all-trans-retinyl-palmitate hydrolase"", ""retinoid isomerohydrolase"", ""BCO family, member 3"""	180069	"""retinal pigment epithelium-specific protein (65kD)"""	RP20		8340400	Standard	XM_006710811		Approved	LCA2, rd12, BCO3	uc001dei.1	Q16518	OTTHUMG00000009208	ENST00000262340.5:c.640G>T	1.37:g.68906539C>A	ENSP00000262340:p.Ala214Ser	Somatic		WXS	Illumina HiSeq	Phase_I	A8K1L0|Q5T9U3	Missense_Mutation	SNP	ENST00000262340.5	37	CCDS643.1	.	.	.	.	.	.	.	.	.	.	C	8.879	0.951215	0.18431	.	.	ENSG00000116745	ENST00000262340	D	0.95342	-3.68	4.71	4.71	0.59529	.	0.097154	0.64402	D	0.000001	D	0.86306	0.5901	L	0.39898	1.24	0.43835	D	0.996417	B	0.02656	0.0	B	0.04013	0.001	T	0.83281	-0.0038	10	0.09084	T	0.74	.	18.5396	0.91023	0.0:1.0:0.0:0.0	.	214	Q16518	RPE65_HUMAN	S	214	ENSP00000262340:A214S	ENSP00000262340:A214S	A	-	1	0	RPE65	68679127	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	1.868000	0.39509	2.542000	0.85734	0.591000	0.81541	GCA		0.348	RPE65-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025509.1		NM_000329	
SHMT2	6472	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	57627609	57627609	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3308-01A-01D-0966-08	TCGA-A3-3308-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f89396-6b77-4592-908c-39cc24a829da	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr12:57627609G>A	ENST00000328923.3	+	10	1653	c.1201G>A	c.(1201-1203)Gag>Aag	p.E401K	SHMT2_ENST00000414700.3_Missense_Mutation_p.E380K|SHMT2_ENST00000553474.1_Missense_Mutation_p.E380K|SHMT2_ENST00000557487.1_Missense_Mutation_p.E391K|SHMT2_ENST00000393827.4_Missense_Mutation_p.E305K|SHMT2_ENST00000449049.3_Missense_Mutation_p.E380K	NM_001166356.1|NM_005412.5	NP_001159828.1|NP_005403.2	P34897	GLYM_HUMAN	serine hydroxymethyltransferase 2 (mitochondrial)	401					glycine biosynthetic process from serine (GO:0019264)|L-serine biosynthetic process (GO:0006564)|one-carbon metabolic process (GO:0006730)|positive regulation of cell proliferation (GO:0008284)|protein homotetramerization (GO:0051289)|tetrahydrofolate interconversion (GO:0035999)	extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	amino acid binding (GO:0016597)|chromatin binding (GO:0003682)|glycine hydroxymethyltransferase activity (GO:0004372)|L-allo-threonine aldolase activity (GO:0008732)|pyridoxal phosphate binding (GO:0030170)			breast(1)|central_nervous_system(1)|large_intestine(4)|liver(2)|lung(3)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	15					Glycine(DB00145)|Tetrahydrofolic acid(DB00116)	GCGGGTGCTAGAGCTTGTATC	0.607																																					Esophageal Squamous(150;1369 2416 49071 49364)												0													64.0	69.0	67.0					12																	57627609		2203	4300	6503	SO:0001583	missense	6472			AK223555	CCDS8934.1, CCDS53805.1, CCDS55837.1	12q12-q14	2006-03-27				ENSG00000182199	2.1.2.1		10852	protein-coding gene	gene with protein product		138450		SHMT		8999870	Standard	NM_005412		Approved		uc001snf.2	P34897		ENST00000328923.3:c.1201G>A	12.37:g.57627609G>A	ENSP00000333667:p.Glu401Lys	Somatic		WXS	Illumina HiSeq	Phase_I	B7Z9F1|E7EQ19|E7EU43|O00740|Q8N1A5	Missense_Mutation	SNP	ENST00000328923.3	37	CCDS8934.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.604436|5.604436	0.96626|0.96626	.|.	.|.	ENSG00000182199|ENSG00000182199	ENST00000328923;ENST00000557487;ENST00000414700;ENST00000553474;ENST00000449049;ENST00000393827|ENST00000557529	T;T;T;T;T;T|.	0.46451|.	1.42;0.87;1.42;1.42;1.42;0.87|.	4.17|4.17	4.17|4.17	0.49024|0.49024	Pyridoxal phosphate-dependent transferase, major region, subdomain 2 (1);Pyridoxal phosphate-dependent transferase, major domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.87517|0.87517	0.6197|0.6197	H|H	0.96777|0.96777	3.88|3.88	0.80722|0.80722	D|D	1|1	D;D;D;D;P|.	0.76494|.	0.963;0.992;0.999;0.979;0.949|.	P;P;D;P;P|.	0.71184|.	0.884;0.884;0.972;0.89;0.703|.	D|D	0.91907|0.91907	0.5536|0.5536	10|5	0.87932|.	D|.	0|.	-8.4628|-8.4628	15.787|15.787	0.78315|0.78315	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	410;391;305;332;401|.	B4DWA7;Q8N1A5;B4DLV4;B4DP88;P34897|.	.;.;.;.;GLYM_HUMAN|.	K|K	401;391;380;380;380;305|200	ENSP00000333667:E401K;ENSP00000452315:E391K;ENSP00000406881:E380K;ENSP00000452419:E380K;ENSP00000413770:E380K;ENSP00000377413:E305K|.	ENSP00000333667:E401K|.	E|R	+|+	1|2	0|0	SHMT2|SHMT2	55913876|55913876	1.000000|1.000000	0.71417|0.71417	0.975000|0.975000	0.42487|0.42487	0.966000|0.966000	0.64601|0.64601	9.596000|9.596000	0.98267|0.98267	2.334000|2.334000	0.79466|0.79466	0.561000|0.561000	0.74099|0.74099	GAG|AGA		0.607	SHMT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412525.2		NM_005412	
SPRY4	81848	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	141694601	141694601	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3308-01A-01D-0966-08	TCGA-A3-3308-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f89396-6b77-4592-908c-39cc24a829da	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr5:141694601G>A	ENST00000434127.2	-	2	316	c.73C>T	c.(73-75)Cgg>Tgg	p.R25W	SPRY4_ENST00000344120.4_Missense_Mutation_p.R48W|SPRY4_ENST00000503582.1_5'Flank	NM_001127496.1	NP_001120968.1	Q9C004	SPY4_HUMAN	sprouty homolog 4 (Drosophila)	25					multicellular organismal development (GO:0007275)|negative regulation of MAP kinase activity (GO:0043407)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)		p.R48W(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(1)	18		all_hematologic(541;0.118)	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGGGACATCCGGCTGTCAAGA	0.602									Testicular Cancer, Familial Clustering of																																								1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)											28.0	29.0	29.0					5																	141694601		2158	4245	6403	SO:0001583	missense	81848	Familial Cancer Database		AF227516	CCDS4274.1, CCDS47296.1	5q31.3	2010-08-05			ENSG00000187678	ENSG00000187678			15533	protein-coding gene	gene with protein product		607984				16465403	Standard	NM_030964		Approved		uc010jgi.1	Q9C004	OTTHUMG00000129663	ENST00000434127.2:c.73C>T	5.37:g.141694601G>A	ENSP00000399468:p.Arg25Trp	Somatic		WXS	Illumina HiSeq	Phase_I	A4FVB2|A4FVB3|Q6QIX2|Q9C003	Missense_Mutation	SNP	ENST00000434127.2	37	CCDS47296.1	.	.	.	.	.	.	.	.	.	.	G	16.29	3.080686	0.55753	.	.	ENSG00000187678	ENST00000344120;ENST00000434127;ENST00000359661;ENST00000511815	T;T	0.75821	-0.97;-0.84	5.5	3.67	0.42095	.	0.000000	0.85682	D	0.000000	D	0.82314	0.5010	M	0.63843	1.955	0.58432	D	0.999999	D;B	0.89917	1.0;0.244	D;B	0.91635	0.999;0.033	T	0.81911	-0.0716	10	0.87932	D	0	-14.5982	9.8685	0.41160	0.0722:0.0:0.7838:0.144	.	25;25	Q9C004-2;Q9C004	.;SPY4_HUMAN	W	48;25;25;25	ENSP00000344967:R48W;ENSP00000399468:R25W	ENSP00000344967:R48W	R	-	1	2	SPRY4	141674785	1.000000	0.71417	0.979000	0.43373	0.983000	0.72400	5.238000	0.65366	0.648000	0.30732	0.561000	0.74099	CGG		0.602	SPRY4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370652.1			
SULT2A1	6822	hgsc.bcm.edu;ucsc.edu	37	19	48385414	48385415	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3308-01A-01D-0966-08	TCGA-A3-3308-11A-01D-0966-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f89396-6b77-4592-908c-39cc24a829da	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr19:48385414_48385415insA	ENST00000222002.3	-	3	537_538	c.398_399insT	c.(397-399)ttcfs	p.F133fs		NM_003167.3	NP_003158.2	Q06520	ST2A1_HUMAN	sulfotransferase family, cytosolic, 2A, dehydroepiandrosterone (DHEA)-preferring, member 1	133					3'-phosphoadenosine 5'-phosphosulfate metabolic process (GO:0050427)|bile acid catabolic process (GO:0030573)|cellular lipid metabolic process (GO:0044255)|digestion (GO:0007586)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|sulfation (GO:0051923)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	bile-salt sulfotransferase activity (GO:0047704)|sulfotransferase activity (GO:0008146)			breast(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|ovary(1)|pancreas(1)|skin(1)	20		all_cancers(25;3.02e-09)|all_lung(116;6.48e-07)|all_epithelial(76;7.35e-07)|Lung NSC(112;1.56e-06)|all_neural(266;0.0146)|Ovarian(192;0.0261)|Breast(70;0.203)		OV - Ovarian serous cystadenocarcinoma(262;0.000254)|all cancers(93;0.000545)|Epithelial(262;0.0217)|GBM - Glioblastoma multiforme(486;0.0552)	Abiraterone(DB05812)|Acetaminophen(DB00316)	TGTTTTTCCAGAAAAAATAACC	0.347																																																	0																																										SO:0001589	frameshift_variant	6822			X70222	CCDS12707.1	19q13.3	2014-05-21			ENSG00000105398	ENSG00000105398	2.8.2.2	"""Sulfotransferases, cytosolic"""	11458	protein-coding gene	gene with protein product		125263		STD		1588921, 7736787	Standard	NM_003167		Approved	DHEA-ST	uc002phr.2	Q06520	OTTHUMG00000162469	ENST00000222002.3:c.399dupT	19.37:g.48385420_48385420dupA	ENSP00000222002:p.Phe133fs	Somatic		WXS	Illumina HiSeq	Phase_I		Frame_Shift_Ins	INS	ENST00000222002.3	37	CCDS12707.1																																																																																				0.347	SULT2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000369044.1		NM_003167	
SYCP2L	221711	hgsc.bcm.edu;ucsc.edu	37	6	10955449	10955449	+	Splice_Site	DEL	A	A	-			TCGA-A3-3308-01A-01D-0966-08	TCGA-A3-3308-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f89396-6b77-4592-908c-39cc24a829da	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr6:10955449delA	ENST00000283141.6	+	24	2351	c.2055delA	c.(2053-2055)cca>cc	p.P685fs		NM_001040274.2	NP_001035364.2	Q5T4T6	SYC2L_HUMAN	synaptonemal complex protein 2-like	685						nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(4)|large_intestine(10)|lung(12)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	36	Breast(50;0.0838)|Ovarian(93;0.107)	all_hematologic(90;0.135)	Epithelial(50;0.239)			GAGAGTTGCCAGGTAACATCA	0.433											OREG0017189	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													111.0	111.0	111.0					6																	10955449		1940	4138	6078	SO:0001630	splice_region_variant	221711			AK128130	CCDS43423.1	6p24.2	2008-11-06	2007-07-02	2007-07-02	ENSG00000153157	ENSG00000153157			21537	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 177"""	C6orf177			Standard	NM_001040274		Approved	dJ62D2.1, NO145	uc003mzo.3	Q5T4T6	OTTHUMG00000014250	ENST00000283141.6:c.2056+1A>-	6.37:g.10955449delA		Somatic	668	WXS	Illumina HiSeq	Phase_I	A6NDS5|Q08GK5|Q6ZRM2|Q96EJ2	Frame_Shift_Del	DEL	ENST00000283141.6	37	CCDS43423.1																																																																																				0.433	SYCP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039845.3		NM_194299	Frame_Shift_Del
TAF1	6872	broad.mit.edu;hgsc.bcm.edu	37	X	70643015	70643015	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3308-01A-01D-0966-08	TCGA-A3-3308-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f89396-6b77-4592-908c-39cc24a829da	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chrX:70643015G>T	ENST00000373790.4	+	30	4549	c.4498G>T	c.(4498-4500)Gat>Tat	p.D1500Y	TAF1_ENST00000276072.3_Missense_Mutation_p.D1521Y|TAF1_ENST00000449580.1_Missense_Mutation_p.D1500Y|TAF1_ENST00000423759.1_Missense_Mutation_p.D1521Y|TAF1_ENST00000461764.1_3'UTR	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	1500	Interaction with ASF1A and ASF1B.|Protein kinase 2.				cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				CCCCTTGCTGGATGATGATGA	0.423																																																	0													165.0	130.0	142.0					X																	70643015		2203	4300	6503	SO:0001583	missense	6872				CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.4498G>T	X.37:g.70643015G>T	ENSP00000362895:p.Asp1500Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	ENST00000373790.4	37	CCDS35325.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	21.6|21.6	4.175260|4.175260	0.78564|0.78564	.|.	.|.	ENSG00000147133|ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000395779;ENST00000538124;ENST00000276072|ENST00000437147	T;T;T;T|.	0.10860|.	2.84;2.92;2.89;2.83|.	4.65|4.65	4.65|4.65	0.58169|0.58169	Bromodomain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.74351|0.74351	0.3705|0.3705	M|M	0.71581|0.71581	2.175|2.175	0.80722|0.80722	D|D	1|1	D;D;D|.	0.89917|.	1.0;1.0;1.0|.	D;D;D|.	0.77004|.	0.989;0.968;0.978|.	T|T	0.75436|0.75436	-0.3318|-0.3318	10|5	0.87932|.	D|.	0|.	.|.	17.0501|17.0501	0.86516|0.86516	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	1500;1500;1521|.	P21675-4;P21675;P21675-2|.	.;TAF1_HUMAN;.|.	Y|C	1500;1500;1521;206;206;1521|154	ENSP00000362895:D1500Y;ENSP00000389000:D1500Y;ENSP00000406549:D1521Y;ENSP00000276072:D1521Y|.	ENSP00000276072:D1521Y|.	D|W	+|+	1|3	0|0	TAF1|TAF1	70559740|70559740	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.991000|0.991000	0.79684|0.79684	9.420000|9.420000	0.97426|0.97426	2.033000|2.033000	0.60031|0.60031	0.544000|0.544000	0.68410|0.68410	GAT|TGG		0.423	TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2		NM_004606	
TDRD10	126668	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	154493879	154493879	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3308-01A-01D-0966-08	TCGA-A3-3308-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f89396-6b77-4592-908c-39cc24a829da	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:154493879G>A	ENST00000368480.3	+	6	378	c.293G>A	c.(292-294)cGa>cAa	p.R98Q	TDRD10_ENST00000479937.1_3'UTR|TDRD10_ENST00000368482.4_Missense_Mutation_p.R98Q			Q5VZ19	TDR10_HUMAN	tudor domain containing 10	98	RRM. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			breast(1)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	29	all_lung(78;1.72e-29)|Lung NSC(65;2.96e-27)|Hepatocellular(266;0.0877)|all_hematologic(923;0.088)		LUSC - Lung squamous cell carcinoma(543;0.185)			TTCCACAAGCGAAAACTGTTC	0.507																																																	0													156.0	166.0	162.0					1																	154493879		2203	4300	6503	SO:0001583	missense	126668			AL713777	CCDS30878.2, CCDS41406.1	1q21.3	2013-02-12			ENSG00000163239	ENSG00000163239		"""Tudor domain containing"", ""RNA binding motif (RRM) containing"""	25316	protein-coding gene	gene with protein product						12975309	Standard	NM_182499		Approved	DKFZp434M202	uc009wow.3	Q5VZ19	OTTHUMG00000037264	ENST00000368480.3:c.293G>A	1.37:g.154493879G>A	ENSP00000357465:p.Arg98Gln	Somatic		WXS	Illumina HiSeq	Phase_I	A4FU09|B0QZ53|B4DXV4|Q3ZCP1|Q3ZCS7|Q5SXY7|Q6UXV2|Q8TCN3	Missense_Mutation	SNP	ENST00000368480.3	37	CCDS41406.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.121023	0.77436	.	.	ENSG00000163239	ENST00000368482;ENST00000368480	T;T	0.12465	2.68;2.68	3.79	1.26	0.21427	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	.	.	.	.	T	0.05135	0.0137	M	0.67397	2.05	0.09310	N	1	B;B	0.17465	0.022;0.017	B;B	0.12156	0.007;0.004	T	0.36261	-0.9755	9	0.52906	T	0.07	0.0994	4.9199	0.13865	0.4451:0.0:0.5549:0.0	.	98;98	Q5VZ19;Q5VZ19-2	TDR10_HUMAN;.	Q	98	ENSP00000357467:R98Q;ENSP00000357465:R98Q	ENSP00000357465:R98Q	R	+	2	0	TDRD10	152760503	0.000000	0.05858	0.000000	0.03702	0.849000	0.48306	0.035000	0.13797	0.107000	0.17824	0.557000	0.71058	CGA		0.507	TDRD10-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000090700.2		NM_182499	
TFB1M	51106	hgsc.bcm.edu;ucsc.edu	37	6	155635515	155635515	+	Frame_Shift_Del	DEL	G	G	-			TCGA-A3-3308-01A-01D-0966-08	TCGA-A3-3308-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f89396-6b77-4592-908c-39cc24a829da	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr6:155635515delG	ENST00000367166.4	-	1	103	c.48delC	c.(46-48)cccfs	p.P16fs	TFB1M_ENST00000480390.1_5'UTR	NM_016020.3	NP_057104.2	Q8WVM0	TFB1M_HUMAN	transcription factor B1, mitochondrial	16					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	mitochondrial nucleoid (GO:0042645)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|rRNA (adenine-N6,N6-)-dimethyltransferase activity (GO:0000179)			lung(11)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		Ovarian(120;0.196)		OV - Ovarian serous cystadenocarcinoma(155;1.48e-12)|BRCA - Breast invasive adenocarcinoma(81;0.0131)		CTCGAATCGTGGGCAACGGAG	0.547																																																	0													118.0	102.0	108.0					6																	155635515		2203	4300	6503	SO:0001589	frameshift_variant	51106			AF151833	CCDS5248.1	6q25.1-q25.3	2011-01-28			ENSG00000029639	ENSG00000029639			17037	protein-coding gene	gene with protein product	"""dimethyladenosine transferase 1, mitochondrial"""	607033				10810093, 11809803	Standard	NM_016020		Approved	mtTFB, CGI-75	uc003qqj.4	Q8WVM0	OTTHUMG00000015881	ENST00000367166.4:c.48delC	6.37:g.155635515delG	ENSP00000356134:p.Pro16fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q05DR0|Q9Y384	Frame_Shift_Del	DEL	ENST00000367166.4	37	CCDS5248.1																																																																																				0.547	TFB1M-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042809.1			
TMPRSS3	64699	hgsc.bcm.edu;ucsc.edu	37	21	43804123	43804130	+	Splice_Site	DEL	CTAAAGCG	CTAAAGCG	-			TCGA-A3-3308-01A-01D-0966-08	TCGA-A3-3308-11A-01D-0966-08	CTAAAGCG	CTAAAGCG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f89396-6b77-4592-908c-39cc24a829da	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr21:43804123_43804130delCTAAAGCG	ENST00000291532.3	-	7	1528		c.e7-1		TMPRSS3_ENST00000380399.1_Splice_Site|TMPRSS3_ENST00000398405.1_Splice_Site|TMPRSS3_ENST00000474596.1_Splice_Site|TMPRSS3_ENST00000433957.2_Splice_Site|TMPRSS3_ENST00000398397.3_Splice_Site	NM_032404.2	NP_115780.1	P57727	TMPS3_HUMAN	transmembrane protease, serine 3						cellular sodium ion homeostasis (GO:0006883)|proteolysis (GO:0006508)|sensory perception of sound (GO:0007605)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|sodium channel regulator activity (GO:0017080)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(2)|ovary(4)|skin(1)	13						ACATCCCTCCCTAAAGCGGAGAAAAAGT	0.471																																																	0																																										SO:0001630	splice_region_variant	64699			AF201380	CCDS13686.1, CCDS42939.1, CCDS58790.1	21q22.3	2010-04-13			ENSG00000160183	ENSG00000160183		"""Serine peptidases / Transmembrane"""	11877	protein-coding gene	gene with protein product		605511		DFNB10, DFNB8		11462234, 11907649	Standard	NM_032405		Approved		uc002zbc.3	P57727	OTTHUMG00000086796	ENST00000291532.3:c.573-1CGCTTTAG>-	21.37:g.43804123_43804130delCTAAAGCG		Somatic		WXS	Illumina HiSeq	Phase_I	D3DSJ6|Q5USC7|Q6ZMC3	Frame_Shift_Del	DEL	ENST00000291532.3	37	CCDS13686.1																																																																																				0.471	TMPRSS3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000195347.1			Intron
TPT1	7178	broad.mit.edu;hgsc.bcm.edu	37	13	45914269	45914269	+	Silent	SNP	A	A	G			TCGA-A3-3308-01A-01D-0966-08	TCGA-A3-3308-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f89396-6b77-4592-908c-39cc24a829da	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr13:45914269A>G	ENST00000530705.1	-	3	453	c.153T>C	c.(151-153)aaT>aaC	p.N51N	TPT1_ENST00000529421.1_5'UTR|TPT1_ENST00000379060.4_Silent_p.N39N|TPT1-AS1_ENST00000521336.1_RNA|TPT1-AS1_ENST00000520590.1_RNA|RP11-290D2.6_ENST00000610057.1_RNA|TPT1-AS1_ENST00000520310.1_RNA|TPT1-AS1_ENST00000412946.2_RNA|TPT1_ENST00000379055.1_Silent_p.N17N|TPT1-AS1_ENST00000520622.1_RNA|TPT1-AS1_ENST00000523506.1_RNA|TPT1_ENST00000379056.1_Silent_p.N17N|SNORA31_ENST00000362607.1_RNA|TPT1_ENST00000309246.5_Silent_p.N51N|TPT1-AS1_ENST00000517509.1_RNA			P13693	TCTP_HUMAN	tumor protein, translationally-controlled 1	51					calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|negative regulation of apoptotic process (GO:0043066)|negative regulation of ectoderm development (GO:2000384)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|regulation of apoptotic process (GO:0042981)|response to virus (GO:0009615)|stem cell maintenance (GO:0019827)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|multivesicular body (GO:0005771)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			lung(1)	1		Lung NSC(96;0.00227)|Prostate(109;0.00578)|Breast(56;0.0192)|Lung SC(185;0.0367)|Hepatocellular(98;0.0556)	KIRC - Kidney renal clear cell carcinoma(16;0.234)	GBM - Glioblastoma multiforme(144;0.000232)		CAGCGGAGGCATTTCCACCAA	0.453																																																	0													112.0	106.0	108.0					13																	45914269		2203	4300	6503	SO:0001819	synonymous_variant	7178			X16064	CCDS9397.1, CCDS66538.1, CCDS73566.1	13q14	2010-08-18			ENSG00000133112	ENSG00000133112			12022	protein-coding gene	gene with protein product		600763				2813067, 10343127	Standard	NM_001286273		Approved	TCTP, fortilin	uc001uzy.1	P13693	OTTHUMG00000016845	ENST00000530705.1:c.153T>C	13.37:g.45914269A>G		Somatic		WXS	Illumina HiSeq	Phase_I	B2R7E5|Q6YLS2|Q7Z4J4|Q8TBK7|Q96EE2|Q9UC70	Silent	SNP	ENST00000530705.1	37	CCDS9397.1																																																																																				0.453	TPT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044758.3			
TRAM1L1	133022	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	4	118005505	118005505	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3308-01A-01D-0966-08	TCGA-A3-3308-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f89396-6b77-4592-908c-39cc24a829da	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr4:118005505C>T	ENST00000310754.4	-	1	1231	c.1045G>A	c.(1045-1047)Gga>Aga	p.G349R		NM_152402.2	NP_689615.2	Q8N609	TR1L1_HUMAN	translocation associated membrane protein 1-like 1	349					protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)		p.G349*(1)		central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(10)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	22						ACTCCCACTCCGTTTTCTGTT	0.393																																																	1	Substitution - Nonsense(1)	lung(1)											158.0	163.0	162.0					4																	118005505		2203	4300	6503	SO:0001583	missense	133022			AK074617	CCDS3707.1	4q26	2008-02-05			ENSG00000174599	ENSG00000174599			28371	protein-coding gene	gene with protein product						12477932	Standard	NM_152402		Approved	MGC26568	uc003ibv.4	Q8N609	OTTHUMG00000132956	ENST00000310754.4:c.1045G>A	4.37:g.118005505C>T	ENSP00000309402:p.Gly349Arg	Somatic		WXS	Illumina HiSeq	Phase_I	Q8N2L7	Missense_Mutation	SNP	ENST00000310754.4	37	CCDS3707.1	.	.	.	.	.	.	.	.	.	.	C	19.85	3.904230	0.72754	.	.	ENSG00000174599	ENST00000310754	T	0.50277	0.75	3.74	3.74	0.42951	.	1.517220	0.03495	N	0.217232	T	0.59636	0.2208	N	0.24115	0.695	0.52501	D	0.999957	D	0.89917	1.0	D	0.72075	0.976	T	0.52487	-0.8569	10	0.54805	T	0.06	-16.9383	13.8494	0.63487	0.0:1.0:0.0:0.0	.	349	Q8N609	TR1L1_HUMAN	R	349	ENSP00000309402:G349R	ENSP00000309402:G349R	G	-	1	0	TRAM1L1	118224953	0.712000	0.27916	0.838000	0.33150	0.891000	0.51852	2.593000	0.46180	2.385000	0.81259	0.650000	0.86243	GGA		0.393	TRAM1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256513.1		NM_152402	
TTBK2	146057	hgsc.bcm.edu	37	15	43038015	43038032	+	In_Frame_Del	DEL	GGCTTACTCTTCCCTTGG	GGCTTACTCTTCCCTTGG	-	rs369876689|rs200391495		TCGA-A3-3308-01A-01D-0966-08	TCGA-A3-3308-11A-01D-0966-08	GGCTTACTCTTCCCTTGG	GGCTTACTCTTCCCTTGG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f89396-6b77-4592-908c-39cc24a829da	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr15:43038015_43038032delGGCTTACTCTTCCCTTGG	ENST00000267890.6	-	15	3804_3821	c.3696_3713delCCAAGGGAAGAGTAAGCC	c.(3694-3714)ccccaagggaagagtaagcca>cca	p.1232_1238PQGKSKP>P	CTD-2036P10.3_ENST00000500850.2_lincRNA	NM_173500.3	NP_775771.3	Q6IQ55	TTBK2_HUMAN	tau tubulin kinase 2	1232					cell death (GO:0008219)|cilium assembly (GO:0042384)|peptidyl-serine phosphorylation (GO:0018105)|smoothened signaling pathway (GO:0007224)	centriole (GO:0005814)|ciliary basal body (GO:0036064)|ciliary transition zone (GO:0035869)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|cervix(2)|endometrium(4)|kidney(2)|large_intestine(8)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|stomach(2)	43		all_cancers(109;6.11e-16)|all_epithelial(112;5.5e-14)|Lung NSC(122;1.76e-08)|all_lung(180;6.04e-08)|Melanoma(134;0.0179)|Colorectal(260;0.216)		GBM - Glioblastoma multiforme(94;3.23e-07)		TTTACTGGCTGGCTTACTCTTCCCTTGGGGGGTTTTAG	0.532																																																	0																																										SO:0001651	inframe_deletion	146057			AB020654	CCDS42029.1	15q15.2	2014-01-21			ENSG00000128881	ENSG00000128881			19141	protein-coding gene	gene with protein product		611695	"""spinocerebellar ataxia 11"""	SCA11		10048485	Standard	NM_173500		Approved	KIAA0847	uc001zqo.2	Q6IQ55	OTTHUMG00000175802	ENST00000267890.6:c.3696_3713delCCAAGGGAAGAGTAAGCC	15.37:g.43038015_43038032delGGCTTACTCTTCCCTTGG	ENSP00000267890:p.Pro1232_Lys1237del	Somatic		WXS	Illumina HiSeq	Phase_I	O94932|Q6ZN52|Q8IVV1	In_Frame_Del	DEL	ENST00000267890.6	37	CCDS42029.1																																																																																				0.532	TTBK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000431106.2		NM_173500	
TTN	7273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	179566270	179566270	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3308-01A-01D-0966-08	TCGA-A3-3308-11A-01D-0966-08	C	C	C	G	C	C	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	30f89396-6b77-4592-908c-39cc24a829da	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr2:179566270C>G	ENST00000591111.1	-	108	29856	c.29632G>C	c.(29632-29634)Gca>Cca	p.A9878P	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.A8951P|TTN_ENST00000589042.1_Missense_Mutation_p.A10195P|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN-AS1_ENST00000431752.1_RNA|TTN-AS1_ENST00000589830.1_RNA			Q8WZ42	TITIN_HUMAN	titin	33612	Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GGTGGCACTGCTCTGATAGGC	0.433																																																	0													139.0	136.0	137.0					2																	179566270		1978	4188	6166	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.29632G>C	2.37:g.179566270C>G	ENSP00000465570:p.Ala9878Pro	Somatic		WXS	Illumina HiSeq	Phase_I	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	17.81	3.481087	0.63849	.	.	ENSG00000155657	ENST00000342992;ENST00000414766	T	0.63913	-0.07	5.84	5.84	0.93424	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.77089	0.4079	M	0.62723	1.935	0.80722	D	1	D;D	0.89917	0.998;1.0	D;D	0.87578	0.987;0.998	T	0.78275	-0.2267	9	0.87932	D	0	.	15.6534	0.77115	0.0:1.0:0.0:0.0	.	9878;9878	Q8WZ42;Q8WZ42-5	TITIN_HUMAN;.	P	8951;73	ENSP00000343764:A8951P	ENSP00000343764:A8951P	A	-	1	0	TTN	179274515	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	2.797000	0.47877	2.758000	0.94735	0.655000	0.94253	GCA		0.433	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378	
TTN	7273	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	179584416	179584416	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3308-01A-01D-0966-08	TCGA-A3-3308-11A-01D-0966-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	30f89396-6b77-4592-908c-39cc24a829da	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr2:179584416G>A	ENST00000591111.1	-	80	23076	c.22852C>T	c.(22852-22854)Cat>Tat	p.H7618Y	TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.H6691Y|TTN_ENST00000589042.1_Missense_Mutation_p.H7935Y|TTN_ENST00000342175.6_Intron|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron			Q8WZ42	TITIN_HUMAN	titin	13168	Ig-like 58.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			GTAATGTGATGTTTGCTGTCT	0.403																																																	0													172.0	161.0	165.0					2																	179584416		1900	4117	6017	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.22852C>T	2.37:g.179584416G>A	ENSP00000465570:p.His7618Tyr	Somatic		WXS	Illumina HiSeq	Phase_I	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	G	8.460	0.855189	0.17106	.	.	ENSG00000155657	ENST00000342992	T	0.64438	-0.1	6.08	6.08	0.98989	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.37433	0.1003	N	0.02225	-0.63	0.80722	D	1	B	0.09022	0.002	B	0.10450	0.005	T	0.33343	-0.9872	9	0.87932	D	0	.	10.5846	0.45275	0.1457:0.0:0.8543:0.0	.	7618	Q8WZ42	TITIN_HUMAN	Y	6691	ENSP00000343764:H6691Y	ENSP00000343764:H6691Y	H	-	1	0	TTN	179292661	1.000000	0.71417	1.000000	0.80357	0.656000	0.38851	1.580000	0.36547	2.894000	0.99253	0.655000	0.94253	CAT		0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1		NM_133378	
TXNDC11	51061	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	11773280	11773280	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3308-01A-01D-0966-08	TCGA-A3-3308-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f89396-6b77-4592-908c-39cc24a829da	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr16:11773280G>T	ENST00000356957.3	-	13	2836	c.2729C>A	c.(2728-2730)gCc>gAc	p.A910D	TXNDC11_ENST00000570917.1_5'UTR|TXNDC11_ENST00000283033.5_Missense_Mutation_p.A883D			Q6PKC3	TXD11_HUMAN	thioredoxin domain containing 11	910					cell redox homeostasis (GO:0045454)|protein folding (GO:0006457)|response to endoplasmic reticulum stress (GO:0034976)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	protein disulfide isomerase activity (GO:0003756)			endometrium(3)|large_intestine(5)|lung(7)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	21						GTTTTCTGAGGCATCGGCCAG	0.617																																																	0													60.0	59.0	60.0					16																	11773280		2197	4300	6497	SO:0001583	missense	51061			BC013727	CCDS32387.1	16p13.13	2008-09-29				ENSG00000153066			28030	protein-coding gene	gene with protein product	"""EF-hand binding protein 1"""					8619474, 9110174	Standard	XM_005255346		Approved	EFP1	uc002dbg.1	Q6PKC3		ENST00000356957.3:c.2729C>A	16.37:g.11773280G>T	ENSP00000349439:p.Ala910Asp	Somatic		WXS	Illumina HiSeq	Phase_I	O95887|Q6PJA6|Q8N2Q4|Q96K45|Q96K53	Missense_Mutation	SNP	ENST00000356957.3	37		.	.	.	.	.	.	.	.	.	.	G	16.51	3.144487	0.57044	.	.	ENSG00000153066	ENST00000356957;ENST00000283033	T;T	0.17691	2.48;2.26	5.63	4.66	0.58398	.	0.053534	0.85682	D	0.000000	T	0.40932	0.1137	M	0.69823	2.125	0.51233	D	0.999915	D;D	0.89917	1.0;1.0	D;D	0.76575	0.973;0.988	T	0.28004	-1.0057	10	0.49607	T	0.09	-16.0879	14.8798	0.70522	0.0:0.0:0.8557:0.1443	.	910;883	Q6PKC3;Q6PKC3-2	TXD11_HUMAN;.	D	910;883	ENSP00000349439:A910D;ENSP00000283033:A883D	ENSP00000283033:A883D	A	-	2	0	TXNDC11	11680781	1.000000	0.71417	0.971000	0.41717	0.103000	0.19146	5.822000	0.69265	1.339000	0.45563	0.655000	0.94253	GCC		0.617	TXNDC11-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000437057.1		NM_015914	
USH2A	7399	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	1	215955404	215955404	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3308-01A-01D-0966-08	TCGA-A3-3308-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f89396-6b77-4592-908c-39cc24a829da	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:215955404C>G	ENST00000307340.3	-	54	11106	c.10720G>C	c.(10720-10722)Ggc>Cgc	p.G3574R	USH2A_ENST00000366943.2_Missense_Mutation_p.G3574R	NM_206933.2	NP_996816	O75445	USH2A_HUMAN	Usher syndrome 2A (autosomal recessive, mild)	3574	Fibronectin type-III 20. {ECO:0000255|PROSITE-ProRule:PRU00316}.				hair cell differentiation (GO:0035315)|inner ear receptor cell differentiation (GO:0060113)|maintenance of organ identity (GO:0048496)|photoreceptor cell maintenance (GO:0045494)|response to stimulus (GO:0050896)|sensory perception of light stimulus (GO:0050953)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|basement membrane (GO:0005604)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|stereocilia ankle link complex (GO:0002142)|stereocilium bundle (GO:0032421)|stereocilium membrane (GO:0060171)	collagen binding (GO:0005518)|myosin binding (GO:0017022)			NS(7)|breast(20)|central_nervous_system(3)|cervix(2)|endometrium(32)|haematopoietic_and_lymphoid_tissue(4)|kidney(13)|large_intestine(71)|liver(2)|lung(282)|ovary(25)|pancreas(2)|prostate(12)|skin(22)|stomach(7)|upper_aerodigestive_tract(20)|urinary_tract(3)	527				OV - Ovarian serous cystadenocarcinoma(81;0.0547)|all cancers(67;0.0875)		GTGGCACAGCCAGCAACCGTG	0.438										HNSCC(13;0.011)																																							0													96.0	96.0	96.0					1																	215955404		2203	4300	6503	SO:0001583	missense	7399			AF055580	CCDS1516.1, CCDS31025.1	1q41	2013-02-11			ENSG00000042781	ENSG00000042781		"""Fibronectin type III domain containing"""	12601	protein-coding gene	gene with protein product	"""usherin"""	608400		USH2		9624053, 10729113	Standard	NM_007123		Approved	RP39	uc001hku.1	O75445	OTTHUMG00000037079	ENST00000307340.3:c.10720G>C	1.37:g.215955404C>G	ENSP00000305941:p.Gly3574Arg	Somatic		WXS	Illumina HiSeq	Phase_I	Q5VVM9|Q6S362|Q9NS27	Missense_Mutation	SNP	ENST00000307340.3	37	CCDS31025.1	.	.	.	.	.	.	.	.	.	.	C	19.19	3.780264	0.70222	.	.	ENSG00000042781	ENST00000307340;ENST00000366943	T;T	0.53423	0.62;0.62	5.66	4.62	0.57501	Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.148471	0.30820	N	0.008813	T	0.55609	0.1931	M	0.91510	3.215	0.54753	D	0.999983	P	0.42161	0.772	B	0.36922	0.236	T	0.66858	-0.5817	10	0.87932	D	0	.	12.57	0.56331	0.0:0.9026:0.0:0.0974	.	3574	O75445	USH2A_HUMAN	R	3574	ENSP00000305941:G3574R;ENSP00000355910:G3574R	ENSP00000305941:G3574R	G	-	1	0	USH2A	214022027	0.998000	0.40836	0.699000	0.30290	0.619000	0.37552	3.847000	0.55895	1.275000	0.44379	0.650000	0.86243	GGC		0.438	USH2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128138.1		NM_007123	
VHL	7428	hgsc.bcm.edu;ucsc.edu	37	3	10191522	10191525	+	Frame_Shift_Del	DEL	CTGA	CTGA	-			TCGA-A3-3308-01A-01D-0966-08	TCGA-A3-3308-11A-01D-0966-08	CTGA	CTGA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f89396-6b77-4592-908c-39cc24a829da	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr3:10191522_10191525delCTGA	ENST00000256474.2	+	3	1355_1358	c.515_518delCTGA	c.(514-519)cctgagfs	p.PE172fs	VHL_ENST00000477538.1_3'UTR|VHL_ENST00000345392.2_Frame_Shift_Del_p.PE131fs	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	172					cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.P172fs*30(4)|p.P172fs*39(2)|p.N174fs*41(1)|p.E173_R176del(1)|p.V170fs*29(1)|p.E173*(1)|p.P172_E173del(1)|p.E173fs*>42(1)|p.E173fs*26(1)|p.K171fs*43(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		CTAGTCAAGCCTGAGAATTACAGG	0.525		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																														yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"""E, M, O"""	14	Deletion - Frameshift(10)|Deletion - In frame(2)|Substitution - Nonsense(1)|Insertion - Frameshift(1)	kidney(14)	GRCh37	CD004318|CM982011	VHL	D|M																																				SO:0001589	frameshift_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.515_518delCTGA	3.37:g.10191522_10191525delCTGA	ENSP00000256474:p.Pro172fs	Somatic		WXS	Illumina HiSeq	Phase_I	B2RE45|Q13599|Q6PDA9	Frame_Shift_Del	DEL	ENST00000256474.2	37	CCDS2597.1																																																																																				0.525	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1		NM_000551	
WASL	8976	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	123332672	123332672	+	Missense_Mutation	SNP	G	G	T			TCGA-A3-3308-01A-01D-0966-08	TCGA-A3-3308-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f89396-6b77-4592-908c-39cc24a829da	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr7:123332672G>T	ENST00000223023.4	-	9	1408	c.1076C>A	c.(1075-1077)cCa>cAa	p.P359Q		NM_003941.2	NP_003932.3	O00401	WASL_HUMAN	Wiskott-Aldrich syndrome-like	359	Pro-rich.				actin polymerization or depolymerization (GO:0008154)|axon guidance (GO:0007411)|cellular component movement (GO:0006928)|cellular protein complex localization (GO:0034629)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|membrane budding (GO:0006900)|mitotic nuclear division (GO:0007067)|nitric oxide metabolic process (GO:0046209)|positive regulation of clathrin-mediated endocytosis (GO:2000370)|positive regulation of filopodium assembly (GO:0051491)|protein complex assembly (GO:0006461)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of protein localization (GO:0032880)|regulation of transcription, DNA-templated (GO:0006355)|response to bacterium (GO:0009617)|small molecule metabolic process (GO:0044281)|spindle localization (GO:0051653)|transcription, DNA-templated (GO:0006351)|vesicle organization (GO:0016050)|vesicle transport along actin filament (GO:0030050)	actin cap (GO:0030478)|actin cytoskeleton (GO:0015629)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	small GTPase regulator activity (GO:0005083)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29						AGGTGGTGGTGGAGGCCCTGA	0.672																																																	0													76.0	80.0	78.0					7																	123332672		2203	4300	6503	SO:0001583	missense	8976			D88460	CCDS34743.1	7q31.3	2008-02-01			ENSG00000106299	ENSG00000106299			12735	protein-coding gene	gene with protein product		605056				9422512, 9322739	Standard	NM_003941		Approved	N-WASP, NWASP	uc003vkz.3	O00401	OTTHUMG00000157346	ENST00000223023.4:c.1076C>A	7.37:g.123332672G>T	ENSP00000223023:p.Pro359Gln	Somatic		WXS	Illumina HiSeq	Phase_I	A1JUI9|Q7Z746	Missense_Mutation	SNP	ENST00000223023.4	37	CCDS34743.1	.	.	.	.	.	.	.	.	.	.	G	16.55	3.154489	0.57259	.	.	ENSG00000106299	ENST00000223023	D	0.92299	-3.01	5.43	5.43	0.79202	.	0.000000	0.85682	D	0.000000	D	0.95790	0.8630	M	0.82517	2.595	0.80722	D	1	D	0.65815	0.995	P	0.59221	0.854	D	0.95924	0.8933	10	0.62326	D	0.03	-12.2263	19.2285	0.93827	0.0:0.0:1.0:0.0	.	359	O00401	WASL_HUMAN	Q	359	ENSP00000223023:P359Q	ENSP00000223023:P359Q	P	-	2	0	WASL	123119908	1.000000	0.71417	0.999000	0.59377	0.995000	0.86356	7.283000	0.78640	2.532000	0.85374	0.650000	0.86243	CCA		0.672	WASL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348522.1		NM_003941	
WDHD1	11169	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	55448374	55448374	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3308-01A-01D-0966-08	TCGA-A3-3308-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f89396-6b77-4592-908c-39cc24a829da	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr14:55448374C>G	ENST00000360586.3	-	16	2012	c.1947G>C	c.(1945-1947)atG>atC	p.M649I	WDHD1_ENST00000421192.1_Missense_Mutation_p.M526I|WDHD1_ENST00000359167.4_Missense_Mutation_p.M167I|WDHD1_ENST00000420358.2_Missense_Mutation_p.M526I	NM_007086.3	NP_009017.1	O75717	WDHD1_HUMAN	WD repeat and HMG-box DNA binding protein 1	649					heterochromatin maintenance (GO:0070829)|regulation of chromosome organization (GO:0033044)|RNA processing (GO:0006396)	chromosome, centromeric region (GO:0000775)|cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|RNA binding (GO:0003723)			breast(3)|endometrium(4)|kidney(3)|large_intestine(9)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|urinary_tract(2)	42						CTCTGTTAAGCATTCGAACAA	0.403																																																	0													115.0	100.0	105.0					14																	55448374		2203	4300	6503	SO:0001583	missense	11169			AJ006266	CCDS9721.1, CCDS41955.1	14q22.2	2013-01-09			ENSG00000198554	ENSG00000198554		"""WD repeat domain containing"""	23170	protein-coding gene	gene with protein product	"""CTF4, chromosome transmission fidelity factor 4 homolog (S. cerevisiae)"""	608126				9175701, 20028748	Standard	NM_007086		Approved	AND-1, CTF4, CHTF4	uc001xbm.2	O75717	OTTHUMG00000140304	ENST00000360586.3:c.1947G>C	14.37:g.55448374C>G	ENSP00000353793:p.Met649Ile	Somatic		WXS	Illumina HiSeq	Phase_I	C9JW18|F6W0U7	Missense_Mutation	SNP	ENST00000360586.3	37	CCDS9721.1	.	.	.	.	.	.	.	.	.	.	C	14.75	2.627379	0.46944	.	.	ENSG00000198554	ENST00000360586;ENST00000359167;ENST00000421192	T;T;T	0.61392	0.5;0.93;0.11	5.71	4.82	0.62117	.	0.173980	0.64402	D	0.000011	T	0.44829	0.1312	L	0.31371	0.925	0.49389	D	0.999781	B;B	0.12013	0.005;0.0	B;B	0.15870	0.014;0.003	T	0.27571	-1.0070	10	0.19147	T	0.46	-15.1354	15.0405	0.71788	0.0:0.931:0.0:0.069	.	167;649	F8W7P7;O75717	.;WDHD1_HUMAN	I	649;167;526	ENSP00000353793:M649I;ENSP00000352085:M167I;ENSP00000391049:M526I	ENSP00000352085:M167I	M	-	3	0	WDHD1	54518124	1.000000	0.71417	1.000000	0.80357	0.974000	0.67602	4.708000	0.61859	2.708000	0.92522	0.585000	0.79938	ATG		0.403	WDHD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276897.2		NM_007086	
MAP3K19	80122	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	135744718	135744718	+	Missense_Mutation	SNP	G	G	A	rs373802326		TCGA-A3-3308-01A-01D-0966-08	TCGA-A3-3308-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f89396-6b77-4592-908c-39cc24a829da	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr2:135744718G>A	ENST00000375845.3	-	7	1754	c.1724C>T	c.(1723-1725)cCg>cTg	p.P575L	MAP3K19_ENST00000392917.3_Intron|MAP3K19_ENST00000358371.4_Missense_Mutation_p.P462L|MAP3K19_ENST00000315513.3_5'UTR|MAP3K19_ENST00000375844.3_Intron|MAP3K19_ENST00000392915.1_Missense_Mutation_p.P592L|MAP3K19_ENST00000392918.3_Intron	NM_001018044.2|NM_025052.3	NP_001018054.1|NP_079328.3	Q56UN5	M3K19_HUMAN	mitogen-activated protein kinase kinase kinase 19	575							ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)										TCCCAAAGCCGGGAAAATTTG	0.433																																																	0								G	,LEU/PRO	0,4406		0,0,2203	80.0	84.0	82.0		,1724	4.9	0.8	2		82	2,8598	2.2+/-6.3	0,2,4298	no	intron,missense	YSK4	NM_001018046.1,NM_025052.3	,98	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	,probably-damaging	,575/1329	135744718	2,13004	2203	4300	6503	SO:0001583	missense	0			AK026727	CCDS2176.2, CCDS33293.1, CCDS63021.1, CCDS63020.1, CCDS63022.1	2q21.3	2012-10-16	2012-10-16	2012-10-16	ENSG00000176601	ENSG00000176601		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	26249	protein-coding gene	gene with protein product			"""Yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""yeast Sps1/Ste20-related kinase 4 (S. cerevisiae)"", ""YSK4 Sps1/Ste20-related kinase homolog (S. cerevisiae)"""	YSK4		12477932	Standard	NM_001282883		Approved	FLJ23074	uc002tue.1	Q56UN5	OTTHUMG00000074083	ENST00000375845.3:c.1724C>T	2.37:g.135744718G>A	ENSP00000365005:p.Pro575Leu	Somatic		WXS	Illumina HiSeq	Phase_I	B2RP57|B7ZMH9|E2QRE3|Q56UN1|Q56UN2|Q56UN3|Q56UN4|Q8N4E9|Q9H5T2	Missense_Mutation	SNP	ENST00000375845.3	37	CCDS2176.2	.	.	.	.	.	.	.	.	.	.	G	12.09	1.832610	0.32421	0.0	2.33E-4	ENSG00000176601	ENST00000375845;ENST00000358371;ENST00000392915	D;D;T	0.85556	-2.0;-1.85;0.2	5.81	4.92	0.64577	.	0.000000	0.49305	D	0.000143	D	0.89434	0.6714	L	0.47190	1.495	0.80722	D	1	D;D;D	0.89917	0.991;1.0;0.985	P;D;P	0.74023	0.691;0.982;0.494	D	0.90424	0.4419	10	0.87932	D	0	.	14.5967	0.68413	0.0:0.0:0.7343:0.2657	.	462;592;575	Q56UN5-3;A8MWG7;Q56UN5	.;.;YSK4_HUMAN	L	575;462;592	ENSP00000365005:P575L;ENSP00000351140:P462L;ENSP00000376647:P592L	ENSP00000351140:P462L	P	-	2	0	YSK4	135461188	1.000000	0.71417	0.826000	0.32828	0.082000	0.17680	4.194000	0.58393	1.427000	0.47276	0.655000	0.94253	CCG		0.433	MAP3K19-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000158244.1		NM_025052	
ZBTB10	65986	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	8	81399984	81399984	+	Silent	SNP	T	T	C			TCGA-A3-3308-01A-01D-0966-08	TCGA-A3-3308-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f89396-6b77-4592-908c-39cc24a829da	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr8:81399984T>C	ENST00000430430.1	+	2	1718	c.939T>C	c.(937-939)tcT>tcC	p.S313S	ZBTB10_ENST00000426744.2_Silent_p.S313S|Y_RNA_ENST00000605948.1_RNA|ZBTB10_ENST00000379091.4_Intron|ZBTB10_ENST00000455036.3_Silent_p.S313S	NM_001277145.1	NP_001264074.1	Q96DT7	ZBT10_HUMAN	zinc finger and BTB domain containing 10	313					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(7)|ovary(1)|upper_aerodigestive_tract(4)	20	all_cancers(3;1.68e-09)|all_epithelial(4;5.13e-11)|Lung NSC(7;1.75e-07)|all_lung(9;7.38e-07)|Breast(3;2.96e-06)		BRCA - Breast invasive adenocarcinoma(6;0.000434)|Epithelial(68;0.00486)|all cancers(69;0.0296)			ACCACGTCTCTACCGAGCACA	0.537																																																	0													55.0	60.0	58.0					8																	81399984		2007	4172	6179	SO:0001819	synonymous_variant	65986			AK022814	CCDS47880.1, CCDS64920.1	8q13-q21.1	2013-01-09			ENSG00000205189	ENSG00000205189		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	30953	protein-coding gene	gene with protein product						12477932	Standard	NM_001105539		Approved	RINZF, FLJ12752	uc003ybx.5	Q96DT7	OTTHUMG00000155016	ENST00000430430.1:c.939T>C	8.37:g.81399984T>C		Somatic		WXS	Illumina HiSeq	Phase_I	A4FVD0|Q86W96|Q8IXI9|Q96MH9	Silent	SNP	ENST00000430430.1	37	CCDS47880.1																																																																																				0.537	ZBTB10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338055.2		NM_023929	
ZNF112	7771	hgsc.bcm.edu;ucsc.edu	37	19	44832084	44832084	+	Silent	SNP	C	C	T	rs61733035	byFrequency	TCGA-A3-3308-01A-01D-0966-08	TCGA-A3-3308-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f89396-6b77-4592-908c-39cc24a829da	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr19:44832084C>T	ENST00000337401.4	-	5	2332	c.2244G>A	c.(2242-2244)ccG>ccA	p.P748P	ZNF112_ENST00000354340.4_Silent_p.P742P|ZNF112_ENST00000536500.1_Silent_p.P765P	NM_001083335.1	NP_001076804.1	Q9UJU3	ZN112_HUMAN	zinc finger protein 112	748					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)										CACATTTATACGGTTTCACTC	0.458													C|||	59	0.0117812	0.0401	0.0086	5008	,	,		22700	0.0		0.0	False		,,,				2504	0.0																0								C	,	117,4289	88.7+/-127.4	4,109,2090	268.0	253.0	258.0		2244,2226	-7.1	0.8	19	dbSNP_129	258	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	ZFP112	NM_001083335.1,NM_013380.3	,	4,109,6390	TT,TC,CC		0.0,2.6555,0.8996	,	748/914,742/908	44832084	117,12889	2203	4300	6503	SO:0001819	synonymous_variant	7771			AF198358		19q13.2	2014-02-06	2012-11-27		ENSG00000062370	ENSG00000062370		"""Zinc fingers, C2H2-type"""	12892	protein-coding gene	gene with protein product		603994	"""zinc finger protein 112 homolog (mouse)"", ""zinc finger protein 228"""	ZFP112, ZNF228			Standard	NM_013380		Approved			Q9UJU3	OTTHUMG00000182357	ENST00000337401.4:c.2244G>A	19.37:g.44832084C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A4FU53|Q9HCA7	Silent	SNP	ENST00000337401.4	37	CCDS54276.1																																																																																				0.458	ZNF112-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000460744.1		NM_013380	
ZNF347	84671	hgsc.bcm.edu;ucsc.edu	37	19	53645671	53645671	+	Frame_Shift_Del	DEL	T	T	-			TCGA-A3-3308-01A-01D-0966-08	TCGA-A3-3308-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f89396-6b77-4592-908c-39cc24a829da	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr19:53645671delT	ENST00000334197.7	-	5	478	c.410delA	c.(409-411)aatfs	p.N137fs	ZNF347_ENST00000452676.2_Frame_Shift_Del_p.N138fs|ZNF347_ENST00000601804.1_Intron|ZNF347_ENST00000601469.2_Frame_Shift_Del_p.N138fs	NM_032584.2	NP_115973.2	Q96SE7	ZN347_HUMAN	zinc finger protein 347	137					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(3)|kidney(2)|large_intestine(6)|lung(8)|prostate(3)|skin(1)	23				GBM - Glioblastoma multiforme(134;0.0179)		GCCATGTGTATTTTTCTGGAC	0.413																																					Melanoma(64;205 1597 17324 45721)												0													144.0	125.0	132.0					19																	53645671		2203	4300	6503	SO:0001589	frameshift_variant	84671			AY029765	CCDS33097.1, CCDS54314.1	19q13.3	2013-01-08				ENSG00000197937		"""Zinc fingers, C2H2-type"", ""-"""	16447	protein-coding gene	gene with protein product							Standard	NM_032584		Approved	ZNF1111	uc010eql.2	Q96SE7		ENST00000334197.7:c.410delA	19.37:g.53645671delT	ENSP00000334146:p.Asn137fs	Somatic		WXS	Illumina HiSeq	Phase_I	B3KU77|B9EG59|G5E9N4|Q8TCN1	Frame_Shift_Del	DEL	ENST00000334197.7	37	CCDS33097.1																																																																																				0.413	ZNF347-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464170.1		NM_032584	
ZSCAN2	54993	hgsc.bcm.edu;ucsc.edu	37	15	85164518	85164519	+	Frame_Shift_Ins	INS	-	-	A			TCGA-A3-3308-01A-01D-0966-08	TCGA-A3-3308-11A-01D-0966-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f89396-6b77-4592-908c-39cc24a829da	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr15:85164518_85164519insA	ENST00000448803.2	+	3	1384_1385	c.1092_1093insA	c.(1093-1095)aaafs	p.K365fs	ZSCAN2_ENST00000485222.2_Intron|ZSCAN2_ENST00000327179.6_Frame_Shift_Ins_p.K364fs|ZSCAN2_ENST00000541040.1_Intron|ZSCAN2_ENST00000546148.1_Frame_Shift_Ins_p.K365fs|ZSCAN2_ENST00000538076.1_Intron|ZSCAN2_ENST00000358472.3_Frame_Shift_Ins_p.K215fs	NM_181877.3	NP_870992.2	Q7Z7L9	ZSCA2_HUMAN	zinc finger and SCAN domain containing 2	365					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(1)|kidney(2)|large_intestine(7)|liver(2)|lung(4)|ovary(1)|pancreas(1)	19				UCEC - Uterine corpus endometrioid carcinoma (272;0.168)|all cancers(203;5.43e-22)		CCTACGAATGTAAAGAATGCGG	0.495																																																	0																																										SO:0001589	frameshift_variant	54993			BC041620	CCDS10329.2, CCDS32315.1, CCDS32316.1	15q25.2	2013-01-08	2004-11-01	2004-11-02	ENSG00000176371	ENSG00000176371		"""-"", ""Zinc fingers, C2H2-type"""	20994	protein-coding gene	gene with protein product			"""zinc finger protein 29"""	ZFP29		1937051	Standard	NM_017894		Approved	FLJ20595, ZNF854	uc002bkr.3	Q7Z7L9	OTTHUMG00000074027	ENST00000448803.2:c.1095dupA	15.37:g.85164521_85164521dupA	ENSP00000410198:p.Lys365fs	Somatic		WXS	Illumina HiSeq	Phase_I	A6NG83|B2RMQ9|Q6ZQY9|Q9NWU4	Frame_Shift_Ins	INS	ENST00000448803.2	37	CCDS10329.2																																																																																				0.495	ZSCAN2-007	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000396956.1		NM_017894	
ADAMTSL5	339366	broad.mit.edu	37	19	1508527	1508527	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3308-01A-01D-0966-08	TCGA-A3-3308-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f89396-6b77-4592-908c-39cc24a829da	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr19:1508527G>A	ENST00000413997.2	-	6	433	c.434C>T	c.(433-435)gCc>gTc	p.A145V	ADAMTSL5_ENST00000330475.4_Missense_Mutation_p.A135V|ADAMTSL5_ENST00000395467.2_5'UTR|ADAMTSL5_ENST00000590562.1_5'UTR|CTB-25B13.9_ENST00000590252.1_RNA			Q6ZMM2	ATL5_HUMAN	ADAMTS-like 5	145						extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|microfibril (GO:0001527)|proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			cervix(1)|kidney(1)|large_intestine(2)|lung(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	10		Acute lymphoblastic leukemia(61;5.61e-13)|all_hematologic(61;2.65e-08)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GTGGTAGAAGGCGTGCCCCTC	0.701																																																	0													11.0	12.0	12.0					19																	1508527		2177	4277	6454	SO:0001583	missense	339366			BC040620	CCDS12071.1	19p13.3	2008-02-05	2006-02-07	2006-02-07		ENSG00000185761			27912	protein-coding gene	gene with protein product			"""thrombospondin, type I, domain containing 6"""	THSD6			Standard	NM_213604		Approved		uc002ltd.2	Q6ZMM2		ENST00000413997.2:c.434C>T	19.37:g.1508527G>A	ENSP00000399364:p.Ala145Val	Somatic		WXS	Illumina GAIIx	Phase_I	B4DXK7|Q8IW95	Missense_Mutation	SNP	ENST00000413997.2	37		.	.	.	.	.	.	.	.	.	.	G	16.12	3.032779	0.54790	.	.	ENSG00000185761	ENST00000413997;ENST00000330475	T;T	0.03635	3.86;3.86	4.4	3.35	0.38373	.	0.240003	0.38778	N	0.001572	T	0.03305	0.0096	L	0.31065	0.9	0.80722	D	1	B;B	0.25955	0.017;0.138	B;B	0.21151	0.02;0.033	T	0.51741	-0.8667	10	0.31617	T	0.26	.	11.1509	0.48458	0.0:0.0:0.804:0.196	.	145;135	B4DXK7;Q6ZMM2	.;ATL5_HUMAN	V	145;135	ENSP00000399364:A145V;ENSP00000327608:A135V	ENSP00000327608:A135V	A	-	2	0	ADAMTSL5	1459527	1.000000	0.71417	0.986000	0.45419	0.817000	0.46193	4.061000	0.57485	1.024000	0.39682	0.442000	0.29010	GCC		0.701	ADAMTSL5-202	KNOWN	basic	protein_coding	protein_coding			XM_294919	
ATP1A4	480	broad.mit.edu	37	1	160143468	160143468	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3308-01A-01D-0966-08	TCGA-A3-3308-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f89396-6b77-4592-908c-39cc24a829da	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:160143468C>G	ENST00000368081.4	+	13	2423	c.1952C>G	c.(1951-1953)gCt>gGt	p.A651G	ATP1A4_ENST00000418334.1_3'UTR	NM_144699.3	NP_653300.2	Q13733	AT1A4_HUMAN	ATPase, Na+/K+ transporting, alpha 4 polypeptide	651					ATP biosynthetic process (GO:0006754)|ATP hydrolysis coupled proton transport (GO:0015991)|fertilization (GO:0009566)|ion transmembrane transport (GO:0034220)|potassium ion transport (GO:0006813)|regulation of cellular pH (GO:0030641)|regulation of membrane potential (GO:0042391)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium:potassium-exchanging ATPase complex (GO:0005890)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|sodium:potassium-exchanging ATPase activity (GO:0005391)			breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(34)|ovary(2)|prostate(4)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	75	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			GAGGAAGTCGCTGCCCGGCTT	0.547																																																	0													104.0	83.0	91.0					1																	160143468		2203	4300	6503	SO:0001583	missense	480			BC028297	CCDS1197.1, CCDS44255.1	1q23.2	2012-10-22	2002-02-25		ENSG00000132681	ENSG00000132681		"""ATPases / P-type"""	14073	protein-coding gene	gene with protein product	"""sodium/potassium-transporting ATPase subunit alpha-4"", ""sodium pump subunit alpha-4"", ""sodium-potassium ATPase catalytic subunit alpha-4"""	607321	"""ATPase, Na+/K+ transporting, alpha polypeptide-like 2"""	ATP1AL2		1981991, 3035563	Standard	NM_144699		Approved		uc001fve.4	Q13733	OTTHUMG00000031609	ENST00000368081.4:c.1952C>G	1.37:g.160143468C>G	ENSP00000357060:p.Ala651Gly	Somatic		WXS	Illumina GAIIx	Phase_I	Q504T2|Q7Z4I9|Q8TBN8|Q8WXA7|Q8WXH7|Q8WY13	Missense_Mutation	SNP	ENST00000368081.4	37	CCDS1197.1	.	.	.	.	.	.	.	.	.	.	C	18.14	3.557012	0.65425	.	.	ENSG00000132681	ENST00000368081	D	0.97352	-4.35	4.34	4.34	0.51931	Haloacid dehalogenase-like hydrolase (1);HAD-like domain (1);	0.053389	0.64402	D	0.000001	D	0.97383	0.9144	M	0.67517	2.055	0.80722	D	1	P	0.42039	0.769	P	0.57468	0.821	D	0.98389	1.0562	10	0.87932	D	0	.	14.7398	0.69445	0.0:1.0:0.0:0.0	.	651	Q13733	AT1A4_HUMAN	G	651	ENSP00000357060:A651G	ENSP00000357060:A651G	A	+	2	0	ATP1A4	158410092	1.000000	0.71417	0.912000	0.35992	0.107000	0.19398	7.625000	0.83145	2.407000	0.81776	0.655000	0.94253	GCT		0.547	ATP1A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077415.1		NM_144699	
CAPN1	823	broad.mit.edu	37	11	64955442	64955442	+	Frame_Shift_Del	DEL	A	A	-			TCGA-A3-3308-01A-01D-0966-08	TCGA-A3-3308-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f89396-6b77-4592-908c-39cc24a829da	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr11:64955442delA	ENST00000527323.1	+	7	1100	c.860delA	c.(859-861)cagfs	p.Q287fs	CAPN1_ENST00000533820.1_Frame_Shift_Del_p.Q287fs|CAPN1_ENST00000279247.6_Frame_Shift_Del_p.Q287fs|CAPN1_ENST00000533129.1_Frame_Shift_Del_p.Q287fs|CAPN1_ENST00000524773.1_Frame_Shift_Del_p.Q287fs			P07384	CAN1_HUMAN	calpain 1, (mu/I) large subunit	287	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|positive regulation of cell proliferation (GO:0008284)|proteolysis (GO:0006508)|receptor catabolic process (GO:0032801)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)			breast(2)|endometrium(1)|large_intestine(2)|lung(5)|ovary(1)|prostate(1)|skin(1)	13		Lung NSC(402;0.094)|Melanoma(852;0.16)		Lung(977;0.00168)|LUSC - Lung squamous cell carcinoma(976;0.00813)		TACCGAGGCCAGGTGGTGAGC	0.572																																																	0													23.0	29.0	27.0					11																	64955442		2141	4238	6379	SO:0001589	frameshift_variant	823			X04366	CCDS44644.1	11q13	2013-01-10			ENSG00000014216	ENSG00000014216	3.4.22.52	"""EF-hand domain containing"""	1476	protein-coding gene	gene with protein product		114220				3017764, 2209092	Standard	NM_005186		Approved	muCANP, muCL, CANP, CANPL1	uc009yqd.2	P07384	OTTHUMG00000165614	ENST00000527323.1:c.860delA	11.37:g.64955442delA	ENSP00000431984:p.Gln287fs	Somatic		WXS	Illumina GAIIx	Phase_I	Q2TTR0|Q6DHV4	Frame_Shift_Del	DEL	ENST00000527323.1	37	CCDS44644.1																																																																																				0.572	CAPN1-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385325.1			
CT47B1	643311	broad.mit.edu	37	X	120009353	120009353	+	Missense_Mutation	SNP	C	C	G			TCGA-A3-3308-01A-01D-0966-08	TCGA-A3-3308-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f89396-6b77-4592-908c-39cc24a829da	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chrX:120009353C>G	ENST00000371311.3	-	1	426	c.172G>C	c.(172-174)Gtg>Ctg	p.V58L		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	58										breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						AGGCCTTCCACGGGCCCTGCG	0.751																																																	0													3.0	6.0	5.0					X																	120009353		621	1436	2057	SO:0001583	missense	643311				CCDS48161.1	Xq24	2014-05-06	2011-03-24		ENSG00000236446	ENSG00000236446			33293	protein-coding gene	gene with protein product	"""cancer/testis CT47 family, member 13"""	300790				16382448	Standard	NM_001145718		Approved	CT47.13	uc011muc.2	P0C2W7	OTTHUMG00000187483	ENST00000371311.3:c.172G>C	X.37:g.120009353C>G	ENSP00000360360:p.Val58Leu	Somatic		WXS	Illumina GAIIx	Phase_I	A6NM97	Missense_Mutation	SNP	ENST00000371311.3	37	CCDS48161.1	.	.	.	.	.	.	.	.	.	.	C	5.105	0.204985	0.09704	.	.	ENSG00000236446	ENST00000371311	.	.	.	2.34	-4.68	0.03309	.	7.540080	0.00447	N	0.000098	T	0.18635	0.0447	N	0.14661	0.345	0.09310	N	1	B	0.24651	0.108	B	0.20184	0.028	T	0.05699	-1.0869	9	0.36615	T	0.2	.	1.9792	0.03422	0.1586:0.4437:0.1584:0.2393	.	58	P0C2W7	CT47B_HUMAN	L	58	.	ENSP00000360360:V58L	V	-	1	0	CT47B1	119893381	0.000000	0.05858	0.000000	0.03702	0.092000	0.18411	-1.264000	0.02847	-2.226000	0.00723	-1.607000	0.00807	GTG		0.751	CT47B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058121.1		NM_001145718	
INTS1	26173	broad.mit.edu	37	7	1543553	1543553	+	Missense_Mutation	SNP	G	G	A			TCGA-A3-3308-01A-01D-0966-08	TCGA-A3-3308-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f89396-6b77-4592-908c-39cc24a829da	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr7:1543553G>A	ENST00000404767.3	-	2	129	c.44C>T	c.(43-45)gCg>gTg	p.A15V	INTS1_ENST00000389470.4_Missense_Mutation_p.A143V|INTS1_ENST00000493531.1_5'Flank	NM_001080453.2	NP_001073922.2	Q8N201	INT1_HUMAN	integrator complex subunit 1	15					inner cell mass cell proliferation (GO:0001833)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|snRNA processing (GO:0016180)|U2 snRNA 3'-end processing (GO:0034474)	integral component of membrane (GO:0016021)|integrator complex (GO:0032039)|membrane (GO:0016020)				autonomic_ganglia(1)|cervix(1)|endometrium(14)|kidney(3)|large_intestine(7)|lung(24)|ovary(1)|prostate(4)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	62		Ovarian(82;0.0253)		UCEC - Uterine corpus endometrioid carcinoma (27;0.0181)|OV - Ovarian serous cystadenocarcinoma(56;6.99e-15)		GGGTTTGGCCGCGGCGCTGGG	0.731																																																	0													6.0	9.0	8.0					7																	1543553		1840	3993	5833	SO:0001583	missense	26173			AB037861	CCDS47526.1	7p22.3	2009-11-06			ENSG00000164880	ENSG00000164880			24555	protein-coding gene	gene with protein product		611345				16239144	Standard	NM_001080453		Approved	DKFZp586J0619, KIAA1440, INT1, NET28	uc003skn.2	Q8N201	OTTHUMG00000151449	ENST00000404767.3:c.44C>T	7.37:g.1543553G>A	ENSP00000385722:p.Ala15Val	Somatic		WXS	Illumina GAIIx	Phase_I	A6NJ44|Q6NT70|Q6UX74|Q8WV40|Q96D36|Q9NTD1|Q9P2A8|Q9Y3W8	Missense_Mutation	SNP	ENST00000404767.3	37	CCDS47526.1	.	.	.	.	.	.	.	.	.	.	G	14.48	2.547816	0.45383	.	.	ENSG00000164880	ENST00000404767;ENST00000389470	T;T	0.47869	0.86;0.83	4.52	2.36	0.29203	.	0.157867	0.29830	N	0.011093	T	0.30166	0.0756	N	0.22421	0.69	0.35913	D	0.831252	B;B	0.16603	0.018;0.01	B;B	0.10450	0.005;0.003	T	0.23261	-1.0193	10	0.41790	T	0.15	.	8.2296	0.31590	0.3251:0.0:0.6749:0.0	.	143;15	A4D212;Q8N201	.;INT1_HUMAN	V	15;143	ENSP00000385722:A15V;ENSP00000374121:A143V	ENSP00000374121:A143V	A	-	2	0	INTS1	1510079	1.000000	0.71417	0.996000	0.52242	0.908000	0.53690	2.003000	0.40844	0.901000	0.36495	0.462000	0.41574	GCG		0.731	INTS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323683.1			
LINC01098	285501	broad.mit.edu	37	4	178911782	178911782	+	3'UTR	SNP	A	A	G			TCGA-A3-3308-01A-01D-0966-08	TCGA-A3-3308-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f89396-6b77-4592-908c-39cc24a829da	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr4:178911782A>G	ENST00000507870.1	+	0	912																				lung(8)|prostate(1)	9						ACCTGTCATTAGCATGTGTAA	0.413																																																	0																																										SO:0001624	3_prime_UTR_variant	285501																														ENST00000507870.1:c.*120A>G	4.37:g.178911782A>G		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP	ENST00000507870.1	37																																																																																					0.413	RP11-389E17.1-001	PUTATIVE	basic|appris_principal|exp_conf	protein_coding	protein_coding	OTTHUMT00000361922.1			
MED6	10001	broad.mit.edu	37	14	71067337	71067337	+	Silent	SNP	G	G	A			TCGA-A3-3308-01A-01D-0966-08	TCGA-A3-3308-11A-01D-0966-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f89396-6b77-4592-908c-39cc24a829da	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr14:71067337G>A	ENST00000256379.5	-	1	47	c.18C>T	c.(16-18)atC>atT	p.I6I	MED6_ENST00000554963.1_Silent_p.I6I|CTD-2540L5.5_ENST00000553982.1_lincRNA|MED6_ENST00000440435.2_Silent_p.I6I|MED6_ENST00000556044.1_5'UTR|MED6_ENST00000430055.2_Silent_p.I6I	NM_001284209.1|NM_005466.2	NP_001271138.1|NP_005457.2	O75586	MED6_HUMAN	mediator complex subunit 6	6					gene expression (GO:0010467)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|RNA polymerase II transcription cofactor activity (GO:0001104)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			large_intestine(2)|lung(2)|skin(1)	5				all cancers(60;0.00315)|BRCA - Breast invasive adenocarcinoma(234;0.00685)|OV - Ovarian serous cystadenocarcinoma(108;0.0352)		GTATACCTCGGATATCCACCG	0.483																																																	0													51.0	49.0	50.0					14																	71067337		2203	4299	6502	SO:0001819	synonymous_variant	10001			BC004106	CCDS9805.1, CCDS61483.1, CCDS61484.1, CCDS73649.1	14q24.1	2013-02-28	2007-07-30		ENSG00000133997	ENSG00000133997			19970	protein-coding gene	gene with protein product		602984	"""mediator of RNA polymerase II transcription, subunit 6 homolog (S. cerevisiae)"""			9234719, 9671713	Standard	NM_001284209		Approved	NY-REN-28	uc001xmf.3	O75586	OTTHUMG00000171252	ENST00000256379.5:c.18C>T	14.37:g.71067337G>A		Somatic		WXS	Illumina GAIIx	Phase_I	B4DU17|B4E2P0|O15401|Q53FE3|Q53HJ3|Q6FHQ4|Q9BTH1|Q9UHL1	Silent	SNP	ENST00000256379.5	37	CCDS9805.1																																																																																				0.483	MED6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412560.2		NM_005466	
MAP3K9	4293	broad.mit.edu	37	14	71197381	71197381	+	Missense_Mutation	SNP	A	A	G			TCGA-A3-3308-01A-01D-0966-08	TCGA-A3-3308-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f89396-6b77-4592-908c-39cc24a829da	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr14:71197381A>G	ENST00000554752.2	-	12	3030	c.3031T>C	c.(3031-3033)Tcc>Ccc	p.S1011P	MAP3K9_ENST00000381250.4_Missense_Mutation_p.S988P|MAP3K9_ENST00000554146.1_Missense_Mutation_p.S739P|MAP3K9_ENST00000553414.1_Missense_Mutation_p.S744P|MAP3K9_ENST00000555993.2_Missense_Mutation_p.S1025P	NM_001284230.1	NP_001271159.1	P80192	M3K9_HUMAN	mitogen-activated protein kinase kinase kinase 9	1011	Ser-rich.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)		ATP binding (GO:0005524)|JUN kinase kinase kinase activity (GO:0004706)|MAP kinase kinase activity (GO:0004708)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|protein tyrosine kinase activity (GO:0004713)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(5)|lung(25)|ovary(2)|prostate(1)|skin(3)|stomach(2)	46				all cancers(60;0.00779)|BRCA - Breast invasive adenocarcinoma(234;0.00884)|OV - Ovarian serous cystadenocarcinoma(108;0.08)		TGGCTGGGGGACACAAACCAC	0.612																																					GBM(114;411 1587 13539 28235 50070)												0													51.0	53.0	52.0					14																	71197381		2203	4300	6503	SO:0001583	missense	4293			AF251442	CCDS32112.1, CCDS61485.1, CCDS61488.1, CCDS73650.1	14q24.2	2012-10-02			ENSG00000006432	ENSG00000006432		"""Mitogen-activated protein kinase cascade / Kinase kinase kinases"""	6861	protein-coding gene	gene with protein product		600136		MLK1			Standard	NM_001284231		Approved	PRKE1, MEKK9	uc001xml.3	P80192	OTTHUMG00000171249	ENST00000554752.2:c.3031T>C	14.37:g.71197381A>G	ENSP00000451612:p.Ser1011Pro	Somatic		WXS	Illumina GAIIx	Phase_I	A3KN85|Q0D2G7|Q6EH31|Q9H2N5	Missense_Mutation	SNP	ENST00000554752.2	37		.	.	.	.	.	.	.	.	.	.	A	17.61	3.432935	0.62844	.	.	ENSG00000006432	ENST00000554752;ENST00000005198;ENST00000553414;ENST00000381250;ENST00000554146;ENST00000542284	T;D;T;D	0.82893	-1.47;-1.66;-1.47;-1.57	4.84	4.84	0.62591	.	0.229235	0.46442	D	0.000296	T	0.80670	0.4667	L	0.48642	1.525	0.31396	N	0.677226	B;B;B;B	0.31174	0.03;0.076;0.055;0.311	B;B;B;B	0.36418	0.041;0.042;0.111;0.224	D	0.83475	0.0061	10	0.62326	D	0.03	.	14.5776	0.68262	1.0:0.0:0.0:0.0	.	739;1011;1025;744	G3V4P9;P80192;P80192-4;G3V347	.;M3K9_HUMAN;.;.	P	1011;1025;744;988;739;727	ENSP00000451612:S1011P;ENSP00000451038:S744P;ENSP00000370649:S988P;ENSP00000451921:S739P	ENSP00000005198:S1025P	S	-	1	0	MAP3K9	70267134	1.000000	0.71417	1.000000	0.80357	0.982000	0.71751	5.265000	0.65519	2.042000	0.60477	0.533000	0.62120	TCC		0.612	MAP3K9-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000412550.2			
MUC4	4585	broad.mit.edu	37	3	195511925	195511925	+	Missense_Mutation	SNP	A	A	G	rs78031084	byFrequency	TCGA-A3-3308-01A-01D-0966-08	TCGA-A3-3308-11A-01D-0966-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f89396-6b77-4592-908c-39cc24a829da	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr3:195511925A>G	ENST00000463781.3	-	2	6985	c.6526T>C	c.(6526-6528)Tct>Cct	p.S2176P	MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron|MUC4_ENST00000475231.1_Missense_Mutation_p.S2176P	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.S2176P(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		ACAGGAAGAGAGGTGGCGTGA	0.587													.|||	274	0.0547125	0.0189	0.0288	5008	,	,		15474	0.122		0.0805	False		,,,				2504	0.0256																1	Substitution - Missense(1)	kidney(1)																																								SO:0001583	missense	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.6526T>C	3.37:g.195511925A>G	ENSP00000417498:p.Ser2176Pro	Somatic		WXS	Illumina GAIIx	Phase_I	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	Missense_Mutation	SNP	ENST00000463781.3	37	CCDS54700.1	.	.	.	.	.	.	.	.	.	.	a	3.373	-0.127914	0.06753	.	.	ENSG00000145113	ENST00000463781;ENST00000475231	T;T	0.44881	0.91;0.97	.	.	.	.	.	.	.	.	T	0.12390	0.0301	N	0.02539	-0.55	0.09310	N	0.999998	B	0.19817	0.039	B	0.23018	0.043	T	0.16129	-1.0413	7	.	.	.	.	2.133	0.03754	0.2597:0.0:0.2591:0.4812	.	2176	E7ESK3	.	P	2176	ENSP00000417498:S2176P;ENSP00000420243:S2176P	.	S	-	1	0	MUC4	196996320	0.000000	0.05858	0.001000	0.08648	0.019000	0.09904	-2.972000	0.00667	-2.644000	0.00427	-2.094000	0.00368	TCT		0.587	MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6		NM_018406	
PTPN21	11099	broad.mit.edu	37	14	88946198	88946198	+	Missense_Mutation	SNP	T	T	G			TCGA-A3-3308-01A-01D-0966-08	TCGA-A3-3308-11A-01D-0966-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f89396-6b77-4592-908c-39cc24a829da	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr14:88946198T>G	ENST00000556564.1	-	13	1861	c.1577A>C	c.(1576-1578)tAc>tCc	p.Y526S	PTPN21_ENST00000328736.3_Missense_Mutation_p.Y526S	NM_007039.3	NP_008970.2	Q16825	PTN21_HUMAN	protein tyrosine phosphatase, non-receptor type 21	526					peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|liver(1)|lung(7)|ovary(4)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	45						CTCGGCAGGGTAGGGGTAGGG	0.701																																																	0													28.0	36.0	34.0					14																	88946198		2189	4287	6476	SO:0001583	missense	11099			X79510	CCDS9884.1	14q31	2011-06-09				ENSG00000070778		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	9651	protein-coding gene	gene with protein product		603271				7519780	Standard	NM_007039		Approved	PTPD1, PTPRL10	uc001xwv.4	Q16825		ENST00000556564.1:c.1577A>C	14.37:g.88946198T>G	ENSP00000452414:p.Tyr526Ser	Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP	ENST00000556564.1	37	CCDS9884.1	.	.	.	.	.	.	.	.	.	.	T	14.32	2.500754	0.44455	.	.	ENSG00000070778	ENST00000328736;ENST00000556564	T;T	0.72505	-0.66;-0.66	5.13	5.13	0.70059	.	0.195027	0.46442	D	0.000289	T	0.68778	0.3038	L	0.50333	1.59	0.40860	D	0.983829	P	0.52577	0.954	P	0.46299	0.511	T	0.68769	-0.5321	10	0.28530	T	0.3	.	14.9363	0.70957	0.0:0.0:0.0:1.0	.	526	Q16825	PTN21_HUMAN	S	526	ENSP00000330276:Y526S;ENSP00000452414:Y526S	ENSP00000330276:Y526S	Y	-	2	0	PTPN21	88015951	1.000000	0.71417	0.767000	0.31495	0.862000	0.49288	8.005000	0.88553	1.936000	0.56123	0.459000	0.35465	TAC		0.701	PTPN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410303.1			
TRIM67	440730	broad.mit.edu	37	1	231298765	231298765	+	Missense_Mutation	SNP	C	C	T			TCGA-A3-3308-01A-01D-0966-08	TCGA-A3-3308-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f89396-6b77-4592-908c-39cc24a829da	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr1:231298765C>T	ENST00000366653.5	+	1	50	c.50C>T	c.(49-51)cCt>cTt	p.P17L	TRIM67_ENST00000449018.3_Missense_Mutation_p.P17L|TRIM67_ENST00000366652.2_Missense_Mutation_p.P17L|TRIM67_ENST00000444294.3_Missense_Mutation_p.P17L			Q6ZTA4	TRI67_HUMAN	tripartite motif containing 67	17					negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(10)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	29	Breast(184;0.0871)	all_cancers(173;0.189)|Prostate(94;0.167)				TTTCGGGAGCCTATCATCCTG	0.672																																																	0													37.0	41.0	39.0					1																	231298765		2075	4217	6292	SO:0001583	missense	440730			AK126782	CCDS44333.1, CCDS73048.1	1q42.2	2014-02-17	2011-01-25		ENSG00000119283	ENSG00000119283		"""Tripartite motif containing / Tripartite motif containing"", ""Fibronectin type III domain containing"", ""RING-type (C3HC4) zinc fingers"""	31859	protein-coding gene	gene with protein product		610584	"""tripartite motif-containing 67"""				Standard	NM_001004342		Approved	TNL	uc009xfn.1	Q6ZTA4	OTTHUMG00000037958	ENST00000366653.5:c.50C>T	1.37:g.231298765C>T	ENSP00000355613:p.Pro17Leu	Somatic		WXS	Illumina GAIIx	Phase_I	Q5TER7|Q5TER8|Q7Z4K7	Missense_Mutation	SNP	ENST00000366653.5	37	CCDS44333.1	.	.	.	.	.	.	.	.	.	.	C	28.6	4.935581	0.92458	.	.	ENSG00000119283	ENST00000444294;ENST00000366652;ENST00000449018;ENST00000366653	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.05	5.05	0.67936	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (1);Zinc finger, C3HC4 RING-type (1);	0.063957	0.64402	D	0.000006	D	0.94909	0.8354	M	0.90922	3.16	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.95878	0.8896	10	0.87932	D	0	.	17.5247	0.87796	0.0:1.0:0.0:0.0	.	17	Q6ZTA4	TRI67_HUMAN	L	17	ENSP00000412124:P17L;ENSP00000355612:P17L;ENSP00000400163:P17L;ENSP00000355613:P17L	ENSP00000355612:P17L	P	+	2	0	TRIM67	229365388	1.000000	0.71417	1.000000	0.80357	0.854000	0.48673	7.217000	0.77982	2.499000	0.84300	0.462000	0.41574	CCT		0.672	TRIM67-001	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000092649.3		NM_001004342	
MIR4477B	100616194	broad.mit.edu	37	9	68413569	68413569	+	RNA	SNP	C	C	T			TCGA-A3-3308-01A-01D-0966-08	TCGA-A3-3308-11A-01D-0966-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f89396-6b77-4592-908c-39cc24a829da	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr9:68413569C>T	ENST00000581659.1	+	0	0					NR_039688.1|NR_039689.1				microRNA 4477b																		CCCCCAGTGGCGCCGGATCTA	0.602																																																	0																																												0					9	2011-09-12						"""ncRNAs / Micro RNAs"""	41898	non-coding RNA	RNA, micro							Standard	NR_039689		Approved	hsa-mir-4477b					9.37:g.68413569C>T		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP	ENST00000581659.1	37																																																																																					0.602	MIR4477B-201	KNOWN	basic	miRNA	miRNA			NR_039689	
MIR4477B	100616194	broad.mit.edu	37	9	68413605	68413606	+	RNA	DEL	CT	CT	-	rs376859471		TCGA-A3-3308-01A-01D-0966-08	TCGA-A3-3308-11A-01D-0966-08	CT	CT	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	30f89396-6b77-4592-908c-39cc24a829da	0d282a88-0ebd-4c51-b3f1-72b11dcbcbdb	g.chr9:68413605_68413606delCT	ENST00000581659.1	+	0	0					NR_039688.1|NR_039689.1				microRNA 4477b																		TTTGCTGAAACTCTGGGGTTGA	0.609																																																	0																																												0					9	2011-09-12						"""ncRNAs / Micro RNAs"""	41898	non-coding RNA	RNA, micro							Standard	NR_039689		Approved	hsa-mir-4477b					9.37:g.68413607_68413608delCT		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	DEL	ENST00000581659.1	37																																																																																					0.609	MIR4477B-201	KNOWN	basic	miRNA	miRNA			NR_039689	
