#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
ALDOA	226	hgsc.bcm.edu;ucsc.edu	37	16	30078964	30078964	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BP-5004-01A-01D-1462-08	TCGA-BP-5004-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3d82fe4-b491-4172-86da-429cf16508de	5df4ce0c-d0cf-4b9e-8182-ee09f3a2be9c	g.chr16:30078964delC	ENST00000566897.1	+	6	1458	c.306delC	c.(304-306)ggcfs	p.G103fs	ALDOA_ENST00000564595.2_Frame_Shift_Del_p.G157fs|ALDOA_ENST00000569798.1_Frame_Shift_Del_p.G103fs|ALDOA_ENST00000395248.1_Frame_Shift_Del_p.G157fs|ALDOA_ENST00000569545.1_Frame_Shift_Del_p.G103fs|ALDOA_ENST00000395240.3_Frame_Shift_Del_p.G103fs|ALDOA_ENST00000564546.1_Frame_Shift_Del_p.G103fs|ALDOA_ENST00000338110.5_Frame_Shift_Del_p.G103fs|ALDOA_ENST00000563060.2_Frame_Shift_Del_p.G103fs|ALDOA_ENST00000412304.2_Frame_Shift_Del_p.G103fs			P04075	ALDOA_HUMAN	aldolase A, fructose-bisphosphate	103					actin filament organization (GO:0007015)|ATP biosynthetic process (GO:0006754)|blood coagulation (GO:0007596)|carbohydrate metabolic process (GO:0005975)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose metabolic process (GO:0006000)|gluconeogenesis (GO:0006094)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|muscle cell cellular homeostasis (GO:0046716)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homotetramerization (GO:0051289)|regulation of cell shape (GO:0008360)|small molecule metabolic process (GO:0044281)|striated muscle contraction (GO:0006941)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|I band (GO:0031674)|membrane (GO:0016020)|nucleus (GO:0005634)|platelet alpha granule lumen (GO:0031093)	actin binding (GO:0003779)|cytoskeletal protein binding (GO:0008092)|fructose binding (GO:0070061)|fructose-bisphosphate aldolase activity (GO:0004332)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|tubulin binding (GO:0015631)			breast(2)|cervix(1)|endometrium(4)|large_intestine(1)|lung(6)|prostate(2)|upper_aerodigestive_tract(1)	17						AATCCAAGGGCGGTGTTGTGG	0.557																																																	0													65.0	70.0	68.0					16																	30078964		2197	4300	6497	SO:0001589	frameshift_variant	226			X05236	CCDS10668.1, CCDS58450.1	16p11.2	2008-03-06			ENSG00000149925	ENSG00000149925	4.1.2.13		414	protein-coding gene	gene with protein product		103850				3570299	Standard	NM_000034		Approved		uc010veg.2	P04075	OTTHUMG00000132107	ENST00000566897.1:c.306delC	16.37:g.30078964delC	ENSP00000455724:p.Gly103fs	Somatic		WXS	Illumina HiSeq	Phase_I	B4DXI7|Q6FH76|Q6FI10|Q96B15|Q9BWD9|Q9UCN2	Frame_Shift_Del	DEL	ENST00000566897.1	37	CCDS10668.1																																																																																				0.557	ALDOA-004	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000435360.1		NM_000034	
ATP13A4	84239	hgsc.bcm.edu;ucsc.edu	37	3	193159265	193159267	+	In_Frame_Del	DEL	AGG	AGG	-			TCGA-BP-5004-01A-01D-1462-08	TCGA-BP-5004-11A-01D-1462-08	AGG	AGG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3d82fe4-b491-4172-86da-429cf16508de	5df4ce0c-d0cf-4b9e-8182-ee09f3a2be9c	g.chr3:193159265_193159267delAGG	ENST00000342695.4	-	20	2749_2751	c.2427_2429delCCT	c.(2425-2430)agccta>aga	p.809_810SL>R	ATP13A4_ENST00000392443.3_In_Frame_Del_p.790_791SL>R	NM_032279.2	NP_115655.2	Q4VNC1	AT134_HUMAN	ATPase type 13A4	809						integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(27)|ovary(2)|prostate(3)|skin(11)|upper_aerodigestive_tract(2)	71	all_cancers(143;1.76e-08)|Ovarian(172;0.0386)		OV - Ovarian serous cystadenocarcinoma(49;2.72e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;0.000109)		CTTTGGCAGTAGGCTGCTGAAAT	0.384																																																	0																																										SO:0001651	inframe_deletion	84239			AK095277	CCDS3304.2	3q29	2010-04-20			ENSG00000127249	ENSG00000127249		"""ATPases / P-type"""	25422	protein-coding gene	gene with protein product		609556				14702039, 12975309	Standard	XM_005247829		Approved	DKFZp761I1011, FLJ37958	uc003ftd.3	Q4VNC1	OTTHUMG00000074067	ENST00000342695.4:c.2427_2429delCCT	3.37:g.193159265_193159267delAGG	ENSP00000339182:p.Ser809_Leu810delinsArg	Somatic		WXS	Illumina HiSeq	Phase_I	B7WPC7|Q6UY23|Q8N1Q9|Q9H043	In_Frame_Del	DEL	ENST00000342695.4	37	CCDS3304.2																																																																																				0.384	ATP13A4-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157244.4		NM_032279	
BEND7	222389	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	10	13523079	13523079	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5004-01A-01D-1462-08	TCGA-BP-5004-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3d82fe4-b491-4172-86da-429cf16508de	5df4ce0c-d0cf-4b9e-8182-ee09f3a2be9c	g.chr10:13523079A>G	ENST00000396900.2	-	6	882	c.883T>C	c.(883-885)Tct>Cct	p.S295P	BEND7_ENST00000378605.3_Missense_Mutation_p.S256P|BEND7_ENST00000396898.2_Missense_Mutation_p.S308P|BEND7_ENST00000341083.3_Missense_Mutation_p.S243P			Q8N7W2	BEND7_HUMAN	BEN domain containing 7	295	BEN. {ECO:0000255|PROSITE- ProRule:PRU00784}.					extracellular vesicular exosome (GO:0070062)		p.S256P(1)|p.S243P(1)		breast(2)|endometrium(1)|kidney(1)|large_intestine(7)|lung(2)|ovary(2)|prostate(1)|stomach(1)	17						TCCAGCTGAGATTTAGGCATA	0.393																																																	2	Substitution - Missense(2)	kidney(2)											121.0	116.0	118.0					10																	13523079		2203	4300	6503	SO:0001583	missense	222389			BC031618	CCDS7099.1, CCDS41490.1	10p14	2012-11-22	2008-10-03	2008-10-03	ENSG00000165626	ENSG00000165626		"""BEN domain containing"""	23514	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 30"""	C10orf30			Standard	NM_152751		Approved	FLJ40283	uc001imm.2	Q8N7W2	OTTHUMG00000017699	ENST00000396900.2:c.883T>C	10.37:g.13523079A>G	ENSP00000380108:p.Ser295Pro	Somatic		WXS	Illumina HiSeq	Phase_I	Q5SYY7|Q5SYY8|Q5SYY9|Q8N5T7	Missense_Mutation	SNP	ENST00000396900.2	37		.	.	.	.	.	.	.	.	.	.	A	20.7	4.029643	0.75504	.	.	ENSG00000165626	ENST00000396900;ENST00000341083;ENST00000396898;ENST00000378605	T;T;T;T	0.53640	0.61;0.61;0.66;0.67	5.97	5.97	0.96955	BEN domain (1);	0.047277	0.85682	D	0.000000	T	0.49795	0.1578	N	0.08118	0	0.47659	D	0.999486	D;D;D	0.76494	0.998;0.998;0.999	D;D;D	0.68943	0.937;0.914;0.961	T	0.61153	-0.7120	10	0.72032	D	0.01	-14.8497	16.4608	0.84044	1.0:0.0:0.0:0.0	.	308;295;243	E5RFC0;Q8N7W2;Q8N7W2-3	.;BEND7_HUMAN;.	P	295;243;308;256	ENSP00000380108:S295P;ENSP00000345773:S243P;ENSP00000380107:S308P;ENSP00000367868:S256P	ENSP00000345773:S243P	S	-	1	0	BEND7	13563085	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	6.855000	0.75445	2.288000	0.76882	0.533000	0.62120	TCT		0.393	BEND7-202	KNOWN	basic	protein_coding	protein_coding			NM_152751	
HEATR9	256957	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	34185482	34185482	+	Silent	SNP	G	G	T			TCGA-BP-5004-01A-01D-1462-08	TCGA-BP-5004-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3d82fe4-b491-4172-86da-429cf16508de	5df4ce0c-d0cf-4b9e-8182-ee09f3a2be9c	g.chr17:34185482G>T	ENST00000311880.2	-	10	1135	c.987C>A	c.(985-987)gtC>gtA	p.V329V	C17orf66_ENST00000592980.1_Silent_p.V289V	NM_152781.2	NP_689994.2	A2RTY3	HEAT9_HUMAN		329					hematopoietic progenitor cell differentiation (GO:0002244)			p.V329V(1)		breast(3)|central_nervous_system(1)|cervix(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(6)|lung(11)|skin(2)|stomach(4)	38		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0184)		TGGCCTTGATGACTGGGGCTG	0.572																																																	1	Substitution - coding silent(1)	kidney(1)											125.0	84.0	98.0					17																	34185482		2203	4300	6503	SO:0001819	synonymous_variant	256957																														ENST00000311880.2:c.987C>A	17.37:g.34185482G>T		Somatic		WXS	Illumina HiSeq	Phase_I	B4DX21|B4DXA4|B4DXF0|Q8N4R4|Q96M46	Silent	SNP	ENST00000311880.2	37	CCDS11299.1																																																																																				0.572	C17orf66-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256487.1			
HMCES	56941	broad.mit.edu;hgsc.bcm.edu	37	3	129023468	129023468	+	Nonsense_Mutation	SNP	C	C	T			TCGA-BP-5004-01A-01D-1462-08	TCGA-BP-5004-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3d82fe4-b491-4172-86da-429cf16508de	5df4ce0c-d0cf-4b9e-8182-ee09f3a2be9c	g.chr3:129023468C>T	ENST00000383463.4	+	7	954	c.865C>T	c.(865-867)Cag>Tag	p.Q289*	HMCES_ENST00000389735.3_Nonsense_Mutation_p.Q289*|HMCES_ENST00000417226.2_Nonsense_Mutation_p.Q247*|HMCES_ENST00000502878.2_Nonsense_Mutation_p.Q289*	NM_020187.2	NP_064572.2	Q96FZ2	HMCES_HUMAN	5-hydroxymethylcytosine (hmC) binding, ES cell-specific	289							DNA binding (GO:0003677)|peptidase activity (GO:0008233)	p.Q289*(1)									GAGGATGTTGCAGTGGTTGGC	0.483																																																	1	Substitution - Nonsense(1)	kidney(1)											138.0	135.0	136.0					3																	129023468		2203	4300	6503	SO:0001587	stop_gained	56941			AF201934	CCDS33852.1	3q21.3	2013-08-30	2013-08-30	2013-08-30	ENSG00000183624	ENSG00000183624			24446	protein-coding gene	gene with protein product	"""SOS response associated peptidase domain containing 1"""		"""chromosome 3 open reading frame 37"""	C3orf37		23434322, 23945014	Standard	XM_005247636		Approved	DC12, SRAPD1	uc003elt.3	Q96FZ2	OTTHUMG00000159452	ENST00000383463.4:c.865C>T	3.37:g.129023468C>T	ENSP00000372955:p.Gln289*	Somatic		WXS	Illumina HiSeq	Phase_I	A6NJR9|Q96G34|Q9NRP3	Nonsense_Mutation	SNP	ENST00000383463.4	37	CCDS33852.1	.	.	.	.	.	.	.	.	.	.	C	34	5.319822	0.95682	.	.	ENSG00000183624	ENST00000509042;ENST00000383463;ENST00000417226;ENST00000502878;ENST00000389735	.	.	.	4.02	3.13	0.36017	.	6.728470	0.00166	N	0.000013	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	-10.0228	9.617	0.39698	0.2095:0.7905:0.0:0.0	.	.	.	.	X	241;289;247;289;289	.	ENSP00000372955:Q289X	Q	+	1	0	C3orf37	130506158	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	0.814000	0.27239	0.975000	0.38392	0.591000	0.81541	CAG		0.483	HMCES-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355470.2		NM_020187	
NYAP1	222950	hgsc.bcm.edu;ucsc.edu	37	7	100086161	100086161	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BP-5004-01A-01D-1462-08	TCGA-BP-5004-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3d82fe4-b491-4172-86da-429cf16508de	5df4ce0c-d0cf-4b9e-8182-ee09f3a2be9c	g.chr7:100086161delG	ENST00000300179.2	+	4	976	c.817delG	c.(817-819)gggfs	p.G273fs	NYAP1_ENST00000454988.1_Frame_Shift_Del_p.G216fs|NYAP1_ENST00000423930.1_Frame_Shift_Del_p.G273fs	NM_173564.2	NP_775835.2	Q6ZVC0	NYAP1_HUMAN	neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 1	273					neuron projection morphogenesis (GO:0048812)|phosphatidylinositol 3-kinase signaling (GO:0014065)												GGAAGAGGCTGGGGAAGGCCG	0.677																																																	0													33.0	40.0	38.0					7																	100086161		2200	4295	6495	SO:0001589	frameshift_variant	0			AK094857	CCDS5696.1	7q22.1	2011-11-30	2011-11-30	2011-11-30	ENSG00000166924	ENSG00000166924			22009	protein-coding gene	gene with protein product		615477	"""chromosome 7 open reading frame 51"", ""KIAA1486-like"""	C7orf51, KIAA1486L		21946561	Standard	NM_173564		Approved	FLJ37538	uc003uvd.2	Q6ZVC0	OTTHUMG00000155290	ENST00000300179.2:c.817delG	7.37:g.100086161delG	ENSP00000300179:p.Gly273fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q6U9Y3|Q8N1V0	Frame_Shift_Del	DEL	ENST00000300179.2	37	CCDS5696.1																																																																																				0.677	NYAP1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339335.2		NM_173564	
CAPN3	825	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	42678049	42678049	+	Intron	SNP	G	G	T			TCGA-BP-5004-01A-01D-1462-08	TCGA-BP-5004-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3d82fe4-b491-4172-86da-429cf16508de	5df4ce0c-d0cf-4b9e-8182-ee09f3a2be9c	g.chr15:42678049G>T	ENST00000397163.3	+	3	598				CAPN3_ENST00000349748.3_Intron|CAPN3_ENST00000357568.3_Intron|RP11-164J13.1_ENST00000495723.1_RNA|CAPN3_ENST00000356316.3_Intron|CAPN3_ENST00000318023.7_Intron	NM_000070.2	NP_000061.1	P20807	CAN3_HUMAN	calpain 3, (p94)						apoptotic process (GO:0006915)|autolysis (GO:0001896)|cellular response to calcium ion (GO:0071277)|cellular response to salt stress (GO:0071472)|G1 to G0 transition involved in cell differentiation (GO:0070315)|muscle cell cellular homeostasis (GO:0046716)|muscle organ development (GO:0007517)|muscle structure development (GO:0061061)|myofibril assembly (GO:0030239)|negative regulation of apoptotic process (GO:0043066)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of proteolysis (GO:0045862)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of satellite cell activation involved in skeletal muscle regeneration (GO:0014718)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein localization to membrane (GO:0072657)|proteolysis (GO:0006508)|regulation of catalytic activity (GO:0050790)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of myoblast differentiation (GO:0045661)|response to calcium ion (GO:0051592)|response to muscle activity (GO:0014850)|sarcomere organization (GO:0045214)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular (GO:0005622)|myofibril (GO:0030016)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|catalytic activity (GO:0003824)|cysteine-type peptidase activity (GO:0008234)|ligase regulator activity (GO:0055103)|peptidase activity (GO:0008233)|protein complex scaffold (GO:0032947)|signal transducer activity (GO:0004871)|sodium ion binding (GO:0031402)|structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(21)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	47		all_cancers(109;1.65e-16)|all_epithelial(112;8.34e-15)|Lung NSC(122;3.56e-09)|all_lung(180;1.68e-08)|Melanoma(134;0.0574)|Colorectal(260;0.152)		GBM - Glioblastoma multiforme(94;7.36e-07)		ACCCAGTTatgatcacctact	0.473											OREG0023085	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0													73.0	70.0	71.0					15																	42678049		2023	4198	6221	SO:0001627	intron_variant	825			X85030	CCDS10085.1, CCDS10086.1, CCDS32207.1, CCDS45245.1, CCDS45246.1	15q15.1	2014-09-17			ENSG00000092529	ENSG00000092529	3.4.22.52	"""EF-hand domain containing"""	1480	protein-coding gene	gene with protein product		114240		LGMD2, LGMD2A		2555341, 7720071	Standard	NM_024344		Approved	CANP3, p94, nCL-1	uc001zpn.1	P20807	OTTHUMG00000130619	ENST00000397163.3:c.380-316G>T	15.37:g.42678049G>T		Somatic	910	WXS	Illumina HiSeq	Phase_I	A6H8K6|Q7L4R0|Q9BQC8|Q9BTU4|Q9Y5S6|Q9Y5S7	RNA	SNP	ENST00000397163.3	37	CCDS45245.1																																																																																				0.473	CAPN3-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000421075.1			
CCDC146	57639	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	76916144	76916144	+	Silent	SNP	C	C	T			TCGA-BP-5004-01A-01D-1462-08	TCGA-BP-5004-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3d82fe4-b491-4172-86da-429cf16508de	5df4ce0c-d0cf-4b9e-8182-ee09f3a2be9c	g.chr7:76916144C>T	ENST00000285871.4	+	16	2305	c.2178C>T	c.(2176-2178)gaC>gaT	p.D726D	CCDC146_ENST00000415740.2_3'UTR|CCDC146_ENST00000431197.1_Silent_p.D440D	NM_020879.2	NP_065930.2	Q8IYE0	CC146_HUMAN	coiled-coil domain containing 146	726								p.D726D(1)		breast(3)|central_nervous_system(3)|endometrium(1)|kidney(4)|large_intestine(7)|lung(10)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|stomach(2)	34		all_cancers(73;0.128)|all_lung(88;0.0986)|all_epithelial(88;0.163)|Myeloproliferative disorder(862;0.205)				GAATTAAAGACCTGGAGAAAC	0.368																																																	1	Substitution - coding silent(1)	kidney(1)											94.0	104.0	100.0					7																	76916144		2203	4300	6503	SO:0001819	synonymous_variant	57639			BC029458	CCDS34671.1	7q11.23	2011-09-07			ENSG00000135205	ENSG00000135205			29296	protein-coding gene	gene with protein product						10819331	Standard	NM_020879		Approved	KIAA1505	uc003uga.3	Q8IYE0	OTTHUMG00000162595	ENST00000285871.4:c.2178C>T	7.37:g.76916144C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A8K8X6|Q9P223	Silent	SNP	ENST00000285871.4	37	CCDS34671.1																																																																																				0.368	CCDC146-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341449.1		NM_020879	
GPATCH11	253635	broad.mit.edu;ucsc.edu	37	2	37319307	37319307	+	Splice_Site	SNP	G	G	C			TCGA-BP-5004-01A-01D-1462-08	TCGA-BP-5004-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3d82fe4-b491-4172-86da-429cf16508de	5df4ce0c-d0cf-4b9e-8182-ee09f3a2be9c	g.chr2:37319307G>C	ENST00000608836.1	+	6	582		c.e6-1		GPATCH11_ENST00000409774.1_Splice_Site|GPATCH11_ENST00000281932.5_Splice_Site	NM_174931.2	NP_777591.3	Q8N954	GPT11_HUMAN	G patch domain containing 11								nucleic acid binding (GO:0003676)	p.?(2)									CTTTCAATTAGAATGCGACTT	0.358																																																	2	Unknown(2)	kidney(2)											33.0	37.0	36.0					2																	37319307		2203	4300	6503	SO:0001630	splice_region_variant	253635			AK095667	CCDS1785.2, CCDS62891.1, CCDS1785.3	2p22.2	2013-11-05	2013-01-28	2013-01-28	ENSG00000152133	ENSG00000152133		"""G patch domain containing"""	26768	protein-coding gene	gene with protein product	"""centromere protein Y"""		"""coiled-coil domain containing 75"""	CCDC75			Standard	NM_001278505		Approved	FLJ38348, CENPY, CENP-Y	uc010ezz.3	Q8N954	OTTHUMG00000128469	ENST00000608836.1:c.438-1G>C	2.37:g.37319307G>C		Somatic		WXS	Illumina GAIIx	Phase_I	A8K0D9|B7Z2G4|B8ZZ44	Splice_Site	SNP	ENST00000608836.1	37	CCDS1785.2	.	.	.	.	.	.	.	.	.	.	G	22.5	4.297453	0.81025	.	.	ENSG00000152133	ENST00000409774;ENST00000281932	.	.	.	5.53	5.53	0.82687	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.4777	0.90799	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CCDC75	37172811	1.000000	0.71417	0.994000	0.49952	0.962000	0.63368	8.938000	0.92943	2.596000	0.87737	0.655000	0.94253	.		0.358	GPATCH11-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding			NM_174931	Intron
CHAF1B	8208	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	21	37783835	37783835	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5004-01A-01D-1462-08	TCGA-BP-5004-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3d82fe4-b491-4172-86da-429cf16508de	5df4ce0c-d0cf-4b9e-8182-ee09f3a2be9c	g.chr21:37783835A>G	ENST00000314103.5	+	11	1145	c.994A>G	c.(994-996)Acc>Gcc	p.T332A		NM_005441.2	NP_005432.1	Q13112	CAF1B_HUMAN	chromatin assembly factor 1, subunit B (p60)	332					cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|unfolded protein binding (GO:0051082)	p.T332A(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(2)	20						TCTGTATGACACCCAGCAGTC	0.522																																																	1	Substitution - Missense(1)	kidney(1)											252.0	219.0	230.0					21																	37783835		2203	4300	6503	SO:0001583	missense	8208			U20980	CCDS13644.1	21q22.2	2013-01-10			ENSG00000159259	ENSG00000159259		"""WD repeat domain containing"""	1911	protein-coding gene	gene with protein product	"""M-phase phosphoprotein 7"", ""Chromatin assembly factor I, p60 subunit"", ""human chromatin assembly factor-I p60 subunit"""	601245				7600578, 8792829	Standard	NM_005441		Approved	CAF1P60, CAF-1, CAF1, CAF1A, MPP7, MPHOSPH7	uc002yvj.3	Q13112	OTTHUMG00000086606	ENST00000314103.5:c.994A>G	21.37:g.37783835A>G	ENSP00000315700:p.Thr332Ala	Somatic		WXS	Illumina HiSeq	Phase_I	Q99548	Missense_Mutation	SNP	ENST00000314103.5	37	CCDS13644.1	.	.	.	.	.	.	.	.	.	.	A	25.3	4.626842	0.87560	.	.	ENSG00000159259	ENST00000314103	T	0.65178	-0.14	5.31	5.31	0.75309	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.048019	0.85682	D	0.000000	D	0.83704	0.5312	M	0.93550	3.43	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.86643	0.1893	10	0.42905	T	0.14	-21.6497	15.2762	0.73742	1.0:0.0:0.0:0.0	.	332	Q13112	CAF1B_HUMAN	A	332	ENSP00000315700:T332A	ENSP00000315700:T332A	T	+	1	0	CHAF1B	36705705	1.000000	0.71417	1.000000	0.80357	0.880000	0.50808	7.035000	0.76517	2.007000	0.58848	0.460000	0.39030	ACC		0.522	CHAF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194616.2		NM_005441	
COL5A1	1289	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	9	137623935	137623935	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5004-01A-01D-1462-08	TCGA-BP-5004-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3d82fe4-b491-4172-86da-429cf16508de	5df4ce0c-d0cf-4b9e-8182-ee09f3a2be9c	g.chr9:137623935G>A	ENST00000371817.3	+	9	1765	c.1351G>A	c.(1351-1353)Gag>Aag	p.E451K		NM_000093.3|NM_001278074.1	NP_000084.3|NP_001265003.1	P20908	CO5A1_HUMAN	collagen, type V, alpha 1	451	Interrupted collagenous region.				axon guidance (GO:0007411)|blood vessel development (GO:0001568)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|collagen biosynthetic process (GO:0032964)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular fibril organization (GO:0043206)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|eye morphogenesis (GO:0048592)|heart morphogenesis (GO:0003007)|integrin biosynthetic process (GO:0045112)|negative regulation of endodermal cell differentiation (GO:1903225)|regulation of cellular component organization (GO:0051128)|skin development (GO:0043588)|tendon development (GO:0035989)|wound healing, spreading of epidermal cells (GO:0035313)	basement membrane (GO:0005604)|collagen type V trimer (GO:0005588)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|heparin binding (GO:0008201)|integrin binding (GO:0005178)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|proteoglycan binding (GO:0043394)	p.E451K(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(26)|liver(2)|lung(36)|ovary(4)|pancreas(4)|prostate(5)|skin(10)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	115		Myeloproliferative disorder(178;0.0341)		all cancers(34;2.28e-08)|OV - Ovarian serous cystadenocarcinoma(145;6.03e-08)|Epithelial(140;6.4e-08)|GBM - Glioblastoma multiforme(294;0.131)		ACCTCGGGGCGAGAAAGGCCA	0.542																																																	1	Substitution - Missense(1)	kidney(1)											112.0	100.0	104.0					9																	137623935		2203	4300	6503	SO:0001583	missense	1289			D90279	CCDS6982.1, CCDS75932.1	9q34.2-q34.3	2014-09-17			ENSG00000130635	ENSG00000130635		"""Collagens"""	2209	protein-coding gene	gene with protein product	"""alpha 1 type V collagen"""	120215				1572660	Standard	NM_001278074		Approved		uc031tfl.1	P20908	OTTHUMG00000020891	ENST00000371817.3:c.1351G>A	9.37:g.137623935G>A	ENSP00000360882:p.Glu451Lys	Somatic		WXS	Illumina HiSeq	Phase_I	Q15094|Q5SUX4	Missense_Mutation	SNP	ENST00000371817.3	37	CCDS6982.1	.	.	.	.	.	.	.	.	.	.	G	16.22	3.063080	0.55432	.	.	ENSG00000130635	ENST00000371817	D	0.96587	-4.06	4.53	4.53	0.55603	.	0.000000	0.85682	U	0.000000	D	0.94085	0.8104	M	0.62723	1.935	0.58432	D	0.999991	D	0.52996	0.957	B	0.36666	0.23	D	0.94452	0.7668	10	0.52906	T	0.07	.	16.2528	0.82494	0.0:0.0:1.0:0.0	.	451	P20908	CO5A1_HUMAN	K	451	ENSP00000360882:E451K	ENSP00000360882:E451K	E	+	1	0	COL5A1	136763756	1.000000	0.71417	0.998000	0.56505	0.538000	0.34931	6.781000	0.75068	2.044000	0.60594	0.462000	0.41574	GAG		0.542	COL5A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054954.2		NM_000093	
DEFB108B	245911	broad.mit.edu;hgsc.bcm.edu	37	11	71548458	71548458	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5004-01A-01D-1462-08	TCGA-BP-5004-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3d82fe4-b491-4172-86da-429cf16508de	5df4ce0c-d0cf-4b9e-8182-ee09f3a2be9c	g.chr11:71548458C>G	ENST00000328698.1	+	2	72	c.72C>G	c.(70-72)ttC>ttG	p.F24L	DEFB108B_ENST00000529157.1_3'UTR	NM_001002035.1	NP_001002035.1	Q8NET1	D108B_HUMAN	defensin, beta 108B	24					defense response to bacterium (GO:0042742)	extracellular region (GO:0005576)		p.F24L(1)		endometrium(1)|kidney(1)|lung(2)|skin(1)	5						GGGGCAAATTCAAGGAGATCT	0.453																																																	1	Substitution - Missense(1)	kidney(1)											114.0	116.0	115.0					11																	71548458		2200	4293	6493	SO:0001583	missense	245911			AF529416	CCDS31631.1	11q13.4	2011-03-29			ENSG00000184276	ENSG00000184276		"""Defensins, beta"""	29966	protein-coding gene	gene with protein product							Standard	NM_001002035		Approved		uc010rqr.2	Q8NET1	OTTHUMG00000167533	ENST00000328698.1:c.72C>G	11.37:g.71548458C>G	ENSP00000333234:p.Phe24Leu	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000328698.1	37	CCDS31631.1	.	.	.	.	.	.	.	.	.	.	.	8.401	0.841883	0.16963	.	.	ENSG00000184276	ENST00000328698	T	0.12465	2.68	1.49	0.449	0.16619	.	0.219660	0.23364	N	0.048981	T	0.08223	0.0205	.	.	.	0.09310	N	0.999995	B	0.06786	0.001	B	0.01281	0.0	T	0.24440	-1.0160	9	0.41790	T	0.15	.	5.4201	0.16396	0.0:0.6406:0.3594:0.0	.	24	Q8NET1	D108B_HUMAN	L	24	ENSP00000333234:F24L	ENSP00000333234:F24L	F	+	3	2	DEFB108B	71226106	0.888000	0.30383	0.404000	0.26397	0.650000	0.38633	0.506000	0.22658	0.168000	0.19655	0.385000	0.25706	TTC		0.453	DEFB108B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394945.1		NM_001002035	
DHX29	54505	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	54585151	54585151	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5004-01A-01D-1462-08	TCGA-BP-5004-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3d82fe4-b491-4172-86da-429cf16508de	5df4ce0c-d0cf-4b9e-8182-ee09f3a2be9c	g.chr5:54585151G>A	ENST00000251636.5	-	8	1161	c.1013C>T	c.(1012-1014)gCa>gTa	p.A338V	RP11-506H20.1_ENST00000506435.1_RNA	NM_019030.2	NP_061903.2	Q7Z478	DHX29_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 29	338						eukaryotic 43S preinitiation complex (GO:0016282)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|ribosomal small subunit binding (GO:0043024)|translation initiation factor activity (GO:0003743)	p.A338V(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(5)|large_intestine(11)|lung(6)|ovary(4)|prostate(1)|skin(3)|urinary_tract(2)	46		Lung NSC(810;4.08e-05)|Breast(144;0.0544)|Prostate(74;0.183)				AAAATTCAATGCACTTTCTCC	0.343																																																	1	Substitution - Missense(1)	kidney(1)											58.0	59.0	59.0					5																	54585151		2202	4299	6501	SO:0001583	missense	54505			AY036974	CCDS34158.1	5q11.2	2008-02-05	2003-06-13	2003-06-20	ENSG00000067248	ENSG00000067248		"""DEAH-boxes"""	15815	protein-coding gene	gene with protein product		612720	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 29"""	DDX29			Standard	XM_005248544		Approved		uc003jpx.3	Q7Z478	OTTHUMG00000162313	ENST00000251636.5:c.1013C>T	5.37:g.54585151G>A	ENSP00000251636:p.Ala338Val	Somatic		WXS	Illumina HiSeq	Phase_I	O75549|Q63HN0|Q63HN3|Q8IWW2|Q8N3A1|Q9UMH2	Missense_Mutation	SNP	ENST00000251636.5	37	CCDS34158.1	.	.	.	.	.	.	.	.	.	.	G	15.53	2.861837	0.51482	.	.	ENSG00000067248	ENST00000251636	T	0.51817	0.69	5.8	5.8	0.92144	.	0.394431	0.27976	N	0.017088	T	0.38081	0.1027	N	0.22421	0.69	0.35101	D	0.765248	B	0.06786	0.001	B	0.04013	0.001	T	0.32955	-0.9887	10	0.24483	T	0.36	.	20.0589	0.97667	0.0:0.0:1.0:0.0	.	338	Q7Z478	DHX29_HUMAN	V	338	ENSP00000251636:A338V	ENSP00000251636:A338V	A	-	2	0	DHX29	54620908	1.000000	0.71417	1.000000	0.80357	0.831000	0.47069	3.783000	0.55409	2.732000	0.93576	0.650000	0.86243	GCA		0.343	DHX29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000368532.1		NM_019030	
DIP2B	57609	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	51127944	51127944	+	Silent	SNP	T	T	C			TCGA-BP-5004-01A-01D-1462-08	TCGA-BP-5004-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3d82fe4-b491-4172-86da-429cf16508de	5df4ce0c-d0cf-4b9e-8182-ee09f3a2be9c	g.chr12:51127944T>C	ENST00000301180.5	+	33	4042	c.4008T>C	c.(4006-4008)acT>acC	p.T1336T		NM_173602.2	NP_775873.2	Q9P265	DIP2B_HUMAN	DIP2 disco-interacting protein 2 homolog B (Drosophila)	1336						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	catalytic activity (GO:0003824)	p.T1336T(2)		breast(1)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(15)|lung(18)|ovary(4)|pancreas(1)|prostate(1)|skin(6)|urinary_tract(2)	60						ATCCGACTACTGTGTATGTGG	0.363																																																	2	Substitution - coding silent(2)	large_intestine(1)|kidney(1)											245.0	217.0	227.0					12																	51127944		2203	4300	6503	SO:0001819	synonymous_variant	57609			AB040896	CCDS31799.1	12q13.12	2012-10-02	2006-01-13		ENSG00000066084	ENSG00000066084			29284	protein-coding gene	gene with protein product		611379					Standard	XM_005269044		Approved	KIAA1463, FLJ34278	uc001rwv.3	Q9P265	OTTHUMG00000169475	ENST00000301180.5:c.4008T>C	12.37:g.51127944T>C		Somatic		WXS	Illumina HiSeq	Phase_I	Q6B011|Q8N1L5|Q8NB38	Silent	SNP	ENST00000301180.5	37	CCDS31799.1																																																																																				0.363	DIP2B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404243.1		NM_173602	
EEF1A2	1917	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	20	62122020	62122020	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5004-01A-01D-1462-08	TCGA-BP-5004-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3d82fe4-b491-4172-86da-429cf16508de	5df4ce0c-d0cf-4b9e-8182-ee09f3a2be9c	g.chr20:62122020C>T	ENST00000298049.7	-	5	911	c.841G>A	c.(841-843)Gcg>Acg	p.A281T	EEF1A2_ENST00000217182.3_Missense_Mutation_p.A281T			Q05639	EF1A2_HUMAN	eukaryotic translation elongation factor 1 alpha 2	281					positive regulation of apoptotic process (GO:0043065)|response to inorganic substance (GO:0010035)	eukaryotic translation elongation factor 1 complex (GO:0005853)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|translation elongation factor activity (GO:0003746)|translation factor activity, nucleic acid binding (GO:0008135)	p.A281T(1)		breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(14)|stomach(1)	20	all_cancers(38;9.45e-12)		BRCA - Breast invasive adenocarcinoma(10;1.22e-05)			TTCACTGGCGCAAAGGTCACC	0.637																																																	1	Substitution - Missense(1)	kidney(1)											61.0	56.0	57.0					20																	62122020		2197	4287	6484	SO:0001583	missense	1917			AF163763	CCDS13522.1	20q13.3	2010-06-03			ENSG00000101210	ENSG00000101210			3192	protein-coding gene	gene with protein product		602959	"""statin-like"", ""statin"""	STNL, STN		8354261, 8812466	Standard	NM_001958		Approved	EEF1AL, HS1	uc002yfe.2	Q05639	OTTHUMG00000033076	ENST00000298049.7:c.841G>A	20.37:g.62122020C>T	ENSP00000298049:p.Ala281Thr	Somatic		WXS	Illumina HiSeq	Phase_I	B5BUF3|E1P5J1|P54266|Q0VGC7	Missense_Mutation	SNP	ENST00000298049.7	37	CCDS13522.1	.	.	.	.	.	.	.	.	.	.	C	17.75	3.467345	0.63625	.	.	ENSG00000101210	ENST00000298049;ENST00000217182	T;T	0.64618	-0.11;-0.11	3.82	3.82	0.43975	Translation elongation factor EFTu/EF1A, domain 2 (1);Translation elongation/initiation factor/Ribosomal, beta-barrel (1);	0.060894	0.64402	D	0.000005	D	0.84042	0.5385	H	0.94345	3.525	0.80722	D	1	D;B	0.60160	0.987;0.064	D;B	0.75020	0.985;0.221	D	0.89481	0.3750	10	0.72032	D	0.01	-14.6002	16.0768	0.80974	0.0:1.0:0.0:0.0	.	257;281	Q59GP5;Q05639	.;EF1A2_HUMAN	T	281	ENSP00000298049:A281T;ENSP00000217182:A281T	ENSP00000217182:A281T	A	-	1	0	EEF1A2	61592464	1.000000	0.71417	0.433000	0.26760	0.057000	0.15508	7.626000	0.83164	1.847000	0.53656	0.556000	0.70494	GCG		0.637	EEF1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080495.1		NM_001958	
FADS2	9415	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	61608124	61608124	+	Missense_Mutation	SNP	A	A	C			TCGA-BP-5004-01A-01D-1462-08	TCGA-BP-5004-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3d82fe4-b491-4172-86da-429cf16508de	5df4ce0c-d0cf-4b9e-8182-ee09f3a2be9c	g.chr11:61608124A>C	ENST00000278840.4	+	4	1175	c.545A>C	c.(544-546)tAt>tCt	p.Y182S	FADS2_ENST00000257261.6_Missense_Mutation_p.Y160S|FADS2_ENST00000521849.1_Missense_Mutation_p.Y182S|FADS2_ENST00000522056.1_Missense_Mutation_p.Y151S	NM_004265.2	NP_004256.1	O95864	FADS2_HUMAN	fatty acid desaturase 2	182					alpha-linolenic acid metabolic process (GO:0036109)|linoleic acid metabolic process (GO:0043651)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)	p.Y182S(1)|p.Y160S(1)		breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20					Alpha-Linolenic Acid(DB00132)	CAACATGATTATGGCCACCTG	0.547																																																	2	Substitution - Missense(2)	kidney(2)											199.0	181.0	187.0					11																	61608124		2202	4299	6501	SO:0001583	missense	9415			AF084559	CCDS8012.1, CCDS60807.1, CCDS60808.1	11q12.2	2013-01-25			ENSG00000134824	ENSG00000134824	1.14.19.3	"""Fatty acid desaturases"""	3575	protein-coding gene	gene with protein product	"""delta-6-desaturase"""	606149		LLCDL2			Standard	NM_004265		Approved	FADSD6, D6D, TU13, DES6, SLL0262	uc001nsl.1	O95864	OTTHUMG00000163794	ENST00000278840.4:c.545A>C	11.37:g.61608124A>C	ENSP00000278840:p.Tyr182Ser	Somatic		WXS	Illumina HiSeq	Phase_I	A8K2M6|B7Z634|Q6MZQ7|Q96H07|Q96SV8|Q9H3G3|Q9Y3X4	Missense_Mutation	SNP	ENST00000278840.4	37	CCDS8012.1	.	.	.	.	.	.	.	.	.	.	A	13.66	2.304513	0.40795	.	.	ENSG00000134824	ENST00000257261;ENST00000522056;ENST00000518606;ENST00000278840;ENST00000517312;ENST00000521849	T;T;T;T;T;T	0.16897	2.31;2.31;2.31;2.31;2.31;2.31	4.81	1.02	0.19986	Fatty acid desaturase, type 1 (1);	0.131436	0.34110	N	0.004241	T	0.16642	0.0400	N	0.20685	0.6	0.33831	D	0.630262	P;P;B;B	0.45212	0.853;0.853;0.058;0.217	P;P;B;B	0.53760	0.734;0.646;0.138;0.138	T	0.18745	-1.0327	10	0.21540	T	0.41	-25.1084	11.197	0.48719	0.3068:0.0:0.0:0.6932	.	151;182;182;160	B7Z634;O95864;O95864-3;O95864-2	.;FADS2_HUMAN;.;.	S	160;151;60;182;60;182	ENSP00000257261:Y160S;ENSP00000429500:Y151S;ENSP00000430054:Y60S;ENSP00000278840:Y182S;ENSP00000430225:Y60S;ENSP00000431091:Y182S	ENSP00000257261:Y160S	Y	+	2	0	FADS2	61364700	0.960000	0.32886	0.001000	0.08648	0.809000	0.45718	2.489000	0.45285	-0.002000	0.14469	0.482000	0.46254	TAT		0.547	FADS2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375586.2		NM_004265	
FAM171B	165215	hgsc.bcm.edu	37	2	187559047	187559048	+	In_Frame_Ins	INS	-	-	CAA	rs73979342|rs144403657|rs71017336	byFrequency	TCGA-BP-5004-01A-01D-1462-08	TCGA-BP-5004-11A-01D-1462-08	-	-	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3d82fe4-b491-4172-86da-429cf16508de	5df4ce0c-d0cf-4b9e-8182-ee09f3a2be9c	g.chr2:187559047_187559048insCAA	ENST00000304698.5	+	1	350_351	c.147_148insCAA	c.(148-150)caa>CAAcaa	p.50_50Q>QQ	AC017101.10_ENST00000453665.1_RNA	NM_177454.3	NP_803237.3	Q6P995	F171B_HUMAN	family with sequence similarity 171, member B	50	Gln-rich.					integral component of membrane (GO:0016021)	DNA binding (GO:0003677)			NS(1)|breast(6)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(22)|ovary(6)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						agcagcagcagcaacaacaaca	0.634														2602	0.519569	0.5106	0.5216	5008	,	,		14904	0.7183		0.4404	False		,,,				2504	0.407																0																																										SO:0001652	inframe_insertion	165215			AF361495	CCDS33347.1	2q32.2	2008-06-16	2008-06-16	2008-06-16	ENSG00000144369	ENSG00000144369			29412	protein-coding gene	gene with protein product			"""KIAA1946"""	KIAA1946		11853319	Standard	NM_177454		Approved	FLJ34104	uc002ups.3	Q6P995	OTTHUMG00000154278	ENST00000304698.5:c.160_162dupCAA	2.37:g.187559054_187559056dupCAA	ENSP00000304108:p.Gln56dup	Somatic		WXS	Illumina HiSeq	Phase_I	Q53SK3|Q8N1Y4|Q8N3K1|Q8N970|Q8NB81|Q8TF55|Q8WYR8	In_Frame_Ins	INS	ENST00000304698.5	37	CCDS33347.1																																																																																				0.634	FAM171B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334679.1		NM_177454	
TMEM255B	348013	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	13	114469231	114469231	+	Splice_Site	SNP	G	G	T			TCGA-BP-5004-01A-01D-1462-08	TCGA-BP-5004-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3d82fe4-b491-4172-86da-429cf16508de	5df4ce0c-d0cf-4b9e-8182-ee09f3a2be9c	g.chr13:114469231G>T	ENST00000375353.3	+	2	216		c.e2+1			NM_182614.2	NP_872420.1	Q8WV15	T255B_HUMAN	transmembrane protein 255B							integral component of membrane (GO:0016021)		p.?(1)									AGGGATCATTGTGAGTGCGCC	0.672																																																	1	Unknown(1)	kidney(1)											70.0	63.0	66.0					13																	114469231		2203	4300	6503	SO:0001630	splice_region_variant	0			BC018995	CCDS45071.1	13q34	2012-11-30	2012-11-30	2012-11-30	ENSG00000184497	ENSG00000184497			28297	protein-coding gene	gene with protein product			"""family with sequence similarity 70, member B"""	FAM70B		12477932	Standard	NM_182614		Approved	MGC20579	uc001vuh.3	Q8WV15	OTTHUMG00000017398	ENST00000375353.3:c.189+1G>T	13.37:g.114469231G>T		Somatic		WXS	Illumina HiSeq	Phase_I		Splice_Site	SNP	ENST00000375353.3	37	CCDS45071.1	.	.	.	.	.	.	.	.	.	.	.	10.44	1.351539	0.24512	.	.	ENSG00000184497	ENST00000375353	.	.	.	4.42	4.42	0.53409	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.8064	0.78517	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FAM70B	113644712	1.000000	0.71417	0.826000	0.32828	0.007000	0.05969	8.119000	0.89579	2.008000	0.58898	0.313000	0.20887	.		0.672	TMEM255B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045953.4		NM_182614	Intron
GLI3	2737	broad.mit.edu;hgsc.bcm.edu	37	7	42006052	42006052	+	Missense_Mutation	SNP	G	G	T			TCGA-BP-5004-01A-01D-1462-08	TCGA-BP-5004-11A-01D-1462-08	G	G	G	T	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	e3d82fe4-b491-4172-86da-429cf16508de	5df4ce0c-d0cf-4b9e-8182-ee09f3a2be9c	g.chr7:42006052G>T	ENST00000395925.3	-	15	2703	c.2619C>A	c.(2617-2619)agC>agA	p.S873R	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	873					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.S873R(1)		NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						TGGAGCGGCGGCTGGAGAAGC	0.687									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																																								1	Substitution - Missense(1)	kidney(1)											20.0	21.0	21.0					7																	42006052		2153	4227	6380	SO:0001583	missense	2737	Familial Cancer Database	;		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.2619C>A	7.37:g.42006052G>T	ENSP00000379258:p.Ser873Arg	Somatic		WXS	Illumina HiSeq	Phase_I	A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Missense_Mutation	SNP	ENST00000395925.3	37	CCDS5465.1	.	.	.	.	.	.	.	.	.	.	G	18.27	3.586697	0.66105	.	.	ENSG00000106571	ENST00000395925	D	0.94000	-3.33	4.85	4.85	0.62838	.	0.076269	0.85682	D	0.000000	D	0.96244	0.8775	M	0.85630	2.765	0.80722	D	1	D	0.89917	1.0	D	0.78314	0.991	D	0.96213	0.9154	10	0.87932	D	0	.	8.9462	0.35760	0.1659:0.0:0.8341:0.0	.	873	P10071	GLI3_HUMAN	R	873	ENSP00000379258:S873R	ENSP00000379258:S873R	S	-	3	2	GLI3	41972577	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	1.289000	0.33307	2.214000	0.71695	0.462000	0.41574	AGC		0.687	GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3		NM_000168	
GNAT1	2779	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	50231595	50231595	+	Missense_Mutation	SNP	A	A	G			TCGA-BP-5004-01A-01D-1462-08	TCGA-BP-5004-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3d82fe4-b491-4172-86da-429cf16508de	5df4ce0c-d0cf-4b9e-8182-ee09f3a2be9c	g.chr3:50231595A>G	ENST00000433068.1	+	6	705	c.649A>G	c.(649-651)Atc>Gtc	p.I217V	GNAT1_ENST00000481246.1_3'UTR|GNAT1_ENST00000232461.3_Missense_Mutation_p.I217V	NM_000172.3	NP_000163.2	P11488	GNAT1_HUMAN	guanine nucleotide binding protein (G protein), alpha transducing activity polypeptide 1	217					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cell proliferation (GO:0008283)|cellular response to electrical stimulus (GO:0071257)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|detection of light stimulus involved in visual perception (GO:0050908)|eye photoreceptor cell development (GO:0042462)|negative regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051344)|phototransduction, visible light (GO:0007603)|positive regulation of cyclic-nucleotide phosphodiesterase activity (GO:0051343)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|response to light intensity (GO:0009642)|response to light stimulus (GO:0009416)|retina development in camera-type eye (GO:0060041)|rhodopsin mediated signaling pathway (GO:0016056)|sensory perception of umami taste (GO:0050917)|signal transduction (GO:0007165)|visual perception (GO:0007601)	apical plasma membrane (GO:0016324)|cytosol (GO:0005829)|heterotrimeric G-protein complex (GO:0005834)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|photoreceptor connecting cilium (GO:0032391)|photoreceptor disc membrane (GO:0097381)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|photoreceptor outer segment membrane (GO:0042622)|plasma membrane (GO:0005886)	acyl binding (GO:0000035)|G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled receptor binding (GO:0001664)|GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)	p.I217V(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(4)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00605)		CGTGACCTGCATCATCTTCAT	0.672																																																	1	Substitution - Missense(1)	kidney(1)											64.0	58.0	60.0					3																	50231595		2203	4300	6503	SO:0001583	missense	2779				CCDS2812.1	3p21	2014-01-28			ENSG00000114349	ENSG00000114349			4393	protein-coding gene	gene with protein product		139330					Standard	NM_000172		Approved	CSNBAD3	uc003cyl.2	P11488	OTTHUMG00000156808	ENST00000433068.1:c.649A>G	3.37:g.50231595A>G	ENSP00000387555:p.Ile217Val	Somatic		WXS	Illumina HiSeq	Phase_I	Q4VBN2	Missense_Mutation	SNP	ENST00000433068.1	37	CCDS2812.1	.	.	.	.	.	.	.	.	.	.	A	26.2	4.717996	0.89205	.	.	ENSG00000114349	ENST00000232461;ENST00000433068	D;D	0.90504	-2.68;-2.68	4.7	4.7	0.59300	.	0.048654	0.85682	D	0.000000	D	0.89044	0.6603	L	0.31294	0.92	0.58432	D	0.999999	P	0.35192	0.489	P	0.46208	0.507	D	0.89946	0.4076	10	0.87932	D	0	.	13.2999	0.60319	1.0:0.0:0.0:0.0	.	217	P11488	GNAT1_HUMAN	V	217	ENSP00000232461:I217V;ENSP00000387555:I217V	ENSP00000232461:I217V	I	+	1	0	GNAT1	50206599	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	8.894000	0.92506	1.995000	0.58328	0.459000	0.35465	ATC		0.672	GNAT1-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000345957.1		NM_000172	
KIF5C	3800	broad.mit.edu;hgsc.bcm.edu	37	2	149793902	149793902	+	Splice_Site	SNP	G	G	T			TCGA-BP-5004-01A-01D-1462-08	TCGA-BP-5004-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3d82fe4-b491-4172-86da-429cf16508de	5df4ce0c-d0cf-4b9e-8182-ee09f3a2be9c	g.chr2:149793902G>T	ENST00000435030.1	+	4	764	c.396G>T	c.(394-396)aaG>aaT	p.K132N	KIF5C_ENST00000414838.2_Splice_Site_p.K37N			O60282	KIF5C_HUMAN	kinesin family member 5C	132	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|mRNA transport (GO:0051028)|organelle organization (GO:0006996)|protein localization (GO:0008104)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)	p.K132N(1)|p.K35N(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(13)|lung(12)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	36				BRCA - Breast invasive adenocarcinoma(221;0.108)		TTCACATAAAGGTACGTATTA	0.443																																																	2	Substitution - Missense(2)	kidney(2)											44.0	42.0	43.0					2																	149793902		1944	4172	6116	SO:0001630	splice_region_variant	3800			AB011103	CCDS74586.1	2q23	2008-02-05			ENSG00000168280	ENSG00000168280		"""Kinesins"""	6325	protein-coding gene	gene with protein product		604593				7514426	Standard	NM_004522		Approved		uc010zbu.2	O60282	OTTHUMG00000153779	ENST00000435030.1:c.396+1G>T	2.37:g.149793902G>T		Somatic		WXS	Illumina HiSeq	Phase_I	O95079|Q2YDC5	Missense_Mutation	SNP	ENST00000435030.1	37		.	.	.	.	.	.	.	.	.	.	G	18.68	3.676305	0.67928	.	.	ENSG00000168280	ENST00000435030;ENST00000414838;ENST00000334436	T;T	0.75938	-0.98;-0.98	4.57	4.57	0.56435	Kinesin, motor domain (4);	0.000000	0.85682	D	0.000000	D	0.86810	0.6022	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.88838	0.3310	9	0.87932	D	0	.	17.5302	0.87811	0.0:0.0:1.0:0.0	.	132	O60282	KIF5C_HUMAN	N	132;37;35	ENSP00000393379:K132N;ENSP00000410115:K37N	ENSP00000334176:K35N	K	+	3	2	KIF5C	149502148	1.000000	0.71417	1.000000	0.80357	0.547000	0.35210	5.257000	0.65473	2.512000	0.84698	0.563000	0.77884	AAG		0.443	KIF5C-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000332562.3		NM_004522	Missense_Mutation
LRRC59	55379	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	48470252	48470252	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5004-01A-01D-1462-08	TCGA-BP-5004-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3d82fe4-b491-4172-86da-429cf16508de	5df4ce0c-d0cf-4b9e-8182-ee09f3a2be9c	g.chr17:48470252A>T	ENST00000225972.7	-	3	407	c.172T>A	c.(172-174)Ttc>Atc	p.F58I		NM_018509.3	NP_060979.2	Q96AG4	LRC59_HUMAN	leucine rich repeat containing 59	58						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial nucleoid (GO:0042645)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)	p.F58I(1)		NS(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	13	Breast(11;5.62e-19)		BRCA - Breast invasive adenocarcinoma(22;2.43e-08)			AGGCCACAGAAATCCGACTAG	0.502																																																	1	Substitution - Missense(1)	kidney(1)											69.0	65.0	66.0					17																	48470252		2203	4300	6503	SO:0001583	missense	55379			AK025328	CCDS11566.1	17q21.33	2014-02-12	2006-01-12		ENSG00000108829	ENSG00000108829			28817	protein-coding gene	gene with protein product		614854				12477932	Standard	NM_018509		Approved	PRO1855, FLJ21675	uc002iqt.3	Q96AG4	OTTHUMG00000162079	ENST00000225972.7:c.172T>A	17.37:g.48470252A>T	ENSP00000225972:p.Phe58Ile	Somatic		WXS	Illumina HiSeq	Phase_I	B2RE83|D3DTX8|Q9P189	Missense_Mutation	SNP	ENST00000225972.7	37	CCDS11566.1	.	.	.	.	.	.	.	.	.	.	A	34	5.354055	0.95830	.	.	ENSG00000108829	ENST00000225972	T	0.28069	1.63	5.5	5.5	0.81552	.	0.000000	0.85682	D	0.000000	T	0.33089	0.0851	N	0.05158	-0.105	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.32322	-0.9911	10	0.18710	T	0.47	.	15.8953	0.79329	1.0:0.0:0.0:0.0	.	58	Q96AG4	LRC59_HUMAN	I	58	ENSP00000225972:F58I	ENSP00000225972:F58I	F	-	1	0	LRRC59	45825251	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	9.258000	0.95555	2.211000	0.71520	0.459000	0.35465	TTC		0.502	LRRC59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367117.2		NM_018509	
MEMO1	51072	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	32117195	32117195	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-5004-01A-01D-1462-08	TCGA-BP-5004-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3d82fe4-b491-4172-86da-429cf16508de	5df4ce0c-d0cf-4b9e-8182-ee09f3a2be9c	g.chr2:32117195T>G	ENST00000295065.5	-	6	755	c.446A>C	c.(445-447)gAt>gCt	p.D149A	MEMO1_ENST00000404530.1_Missense_Mutation_p.D149A|DPY30_ENST00000446765.1_5'UTR|MEMO1_ENST00000379383.3_Missense_Mutation_p.D152A|MEMO1_ENST00000426310.2_Missense_Mutation_p.D126A|MEMO1_ENST00000490459.1_Intron	NM_015955.2	NP_057039.1	Q9Y316	MEMO1_HUMAN	mediator of cell motility 1	149					regulation of microtubule-based process (GO:0032886)	cytosol (GO:0005829)|nucleus (GO:0005634)		p.D149A(1)		NS(1)|breast(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|skin(2)	17	Acute lymphoblastic leukemia(172;0.155)					GGTAAACTCATCCTTATGGCT	0.328																																																	1	Substitution - Missense(1)	kidney(1)											63.0	67.0	66.0					2																	32117195		2203	4300	6503	SO:0001583	missense	51072			AF132961	CCDS1776.1, CCDS46255.1	2p22-p21	2010-05-24	2007-02-12	2007-02-12	ENSG00000162959	ENSG00000162959			14014	protein-coding gene	gene with protein product		611786	"""chromosome 2 open reading frame 4"""	C2orf4		15156151	Standard	NM_015955		Approved	CGI-27, MEMO	uc002rnx.3	Q9Y316	OTTHUMG00000128453	ENST00000295065.5:c.446A>C	2.37:g.32117195T>G	ENSP00000295065:p.Asp149Ala	Somatic		WXS	Illumina HiSeq	Phase_I	B4DLS0|D6W575|Q5R2V8|Q5R2V9|Q6NSL5	Missense_Mutation	SNP	ENST00000295065.5	37	CCDS1776.1	.	.	.	.	.	.	.	.	.	.	T	14.68	2.606410	0.46527	.	.	ENSG00000162959	ENST00000295065;ENST00000379383;ENST00000404530;ENST00000426310	.	.	.	5.73	5.73	0.89815	.	0.000000	0.85682	D	0.000000	T	0.53142	0.1778	L	0.48877	1.53	0.80722	D	1	B;P	0.39696	0.321;0.683	B;B	0.38755	0.281;0.166	T	0.54043	-0.8352	9	0.39692	T	0.17	-6.2036	15.6821	0.77376	0.0:0.0:0.0:1.0	.	126;149	Q9Y316-2;Q9Y316	.;MEMO1_HUMAN	A	149;152;149;126	.	ENSP00000295065:D149A	D	-	2	0	MEMO1	31970699	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.905000	0.87416	2.179000	0.69175	0.482000	0.46254	GAT		0.328	MEMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250251.2		NM_015955	
MLLT4	4301	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	168363200	168363200	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5004-01A-01D-1462-08	TCGA-BP-5004-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3d82fe4-b491-4172-86da-429cf16508de	5df4ce0c-d0cf-4b9e-8182-ee09f3a2be9c	g.chr6:168363200C>T	ENST00000447894.2	+	30	4900	c.4900C>T	c.(4900-4902)Cgc>Tgc	p.R1634C	MLLT4_ENST00000392108.3_Missense_Mutation_p.R1632C|MLLT4_ENST00000366806.2_Missense_Mutation_p.R1634C|MLLT4_ENST00000351017.4_Missense_Mutation_p.R1641C|MLLT4_ENST00000392112.1_Missense_Mutation_p.R1617C|MLLT4_ENST00000400822.3_Missense_Mutation_p.R1644C|MLLT4_ENST00000344191.4_Missense_Mutation_p.R1646C			P55196	AFAD_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4	1634					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cell-cell signaling (GO:0007267)|signal transduction (GO:0007165)	apical part of cell (GO:0045177)|cell junction (GO:0030054)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein C-terminus binding (GO:0008022)	p.R1634C(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(6)|kidney(13)|large_intestine(10)|lung(19)|ovary(2)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	65		Breast(66;1.07e-05)|Ovarian(120;0.024)		Epithelial(4;2.38e-32)|OV - Ovarian serous cystadenocarcinoma(33;9.99e-23)|BRCA - Breast invasive adenocarcinoma(4;1.2e-11)|GBM - Glioblastoma multiforme(31;0.00117)		AGAGGAAGAGCGCCGGCGGCA	0.547			T	MLL	AL																																			Dom	yes		6	6q27	4301	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 4 (AF6)"""		L	1	Substitution - Missense(1)	kidney(1)											89.0	112.0	104.0					6																	168363200		2029	4170	6199	SO:0001583	missense	4301			AB011399	CCDS47517.1, CCDS75553.1	6q27	2008-02-05	2001-11-28		ENSG00000130396	ENSG00000130396			7137	protein-coding gene	gene with protein product		159559	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 4"""			8242616	Standard	NM_001040000		Approved	AF-6, AF6	uc021zij.1	P55196	OTTHUMG00000016031	ENST00000447894.2:c.4900C>T	6.37:g.168363200C>T	ENSP00000404595:p.Arg1634Cys	Somatic		WXS	Illumina HiSeq	Phase_I	O75087|O75088|O75089|Q59FP0|Q5TIG6|Q5TIG7|Q9NSN7|Q9NU92	Missense_Mutation	SNP	ENST00000447894.2	37		.	.	.	.	.	.	.	.	.	.	C	13.30	2.195144	0.38806	.	.	ENSG00000130396	ENST00000344191;ENST00000351017;ENST00000392108;ENST00000366806;ENST00000392112;ENST00000341575;ENST00000400822;ENST00000447894	T;T;T;T;T;T;T	0.58210	3.56;0.66;3.55;0.66;0.66;0.35;0.66	4.06	3.16	0.36331	.	0.083308	0.45606	D	0.000348	T	0.54191	0.1843	L	0.57536	1.79	0.43255	D	0.995184	D;D;P	0.57571	0.966;0.98;0.95	B;P;P	0.59948	0.402;0.606;0.866	T	0.61197	-0.7111	10	0.87932	D	0	-3.5836	13.5002	0.61449	0.0:0.8355:0.1645:0.0	.	1634;1644;1632	P55196;P55196-5;P55196-6	AFAD_HUMAN;.;.	C	1646;1641;1632;1634;1617;1646;1644;1634	ENSP00000341118:R1646C;ENSP00000252692:R1641C;ENSP00000375956:R1632C;ENSP00000355771:R1634C;ENSP00000375960:R1617C;ENSP00000383623:R1644C;ENSP00000404595:R1634C	ENSP00000345834:R1646C	R	+	1	0	MLLT4	168106049	1.000000	0.71417	0.502000	0.27614	0.018000	0.09664	2.359000	0.44142	0.771000	0.33359	0.591000	0.81541	CGC		0.547	MLLT4-013	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000372077.1		NM_005936	
MUC16	94025	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	19	9062883	9062883	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5004-01A-01D-1462-08	TCGA-BP-5004-11A-01D-1462-08	G	G	G	A	G	G	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	e3d82fe4-b491-4172-86da-429cf16508de	5df4ce0c-d0cf-4b9e-8182-ee09f3a2be9c	g.chr19:9062883G>A	ENST00000397910.4	-	3	24766	c.24563C>T	c.(24562-24564)aCc>aTc	p.T8188I		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	8190	Ser-rich.|Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)		p.T8188I(2)|p.T3821I(1)		NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TATGCTGGAGGTAGGGAGTCT	0.473																																																	3	Substitution - Missense(3)	kidney(3)											119.0	113.0	115.0					19																	9062883		2059	4206	6265	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.24563C>T	19.37:g.9062883G>A	ENSP00000381008:p.Thr8188Ile	Somatic		WXS	Illumina HiSeq	Phase_I	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	6.496	0.459742	0.12342	.	.	ENSG00000181143	ENST00000397910	T	0.02472	4.28	3.31	-2.94	0.05581	.	.	.	.	.	T	0.02047	0.0064	N	0.24115	0.695	.	.	.	B	0.24823	0.112	B	0.17722	0.019	T	0.41305	-0.9516	8	0.87932	D	0	.	6.1534	0.20324	0.2453:0.5179:0.2368:0.0	.	8188	B5ME49	.	I	8188	ENSP00000381008:T8188I	ENSP00000381008:T8188I	T	-	2	0	MUC16	8923883	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.498000	0.06420	-0.311000	0.08754	0.508000	0.49915	ACC		0.473	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1		NM_024690	
MYO6	4646	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	6	76570739	76570739	+	Splice_Site	SNP	G	G	C			TCGA-BP-5004-01A-01D-1462-08	TCGA-BP-5004-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3d82fe4-b491-4172-86da-429cf16508de	5df4ce0c-d0cf-4b9e-8182-ee09f3a2be9c	g.chr6:76570739G>C	ENST00000369977.3	+	15	1612		c.e15-1		MYO6_ENST00000369981.3_Splice_Site|MYO6_ENST00000369985.4_Splice_Site|MYO6_ENST00000369975.1_Splice_Site	NM_004999.3	NP_004990.3	Q9UM54	MYO6_HUMAN	myosin VI						actin filament-based movement (GO:0030048)|auditory receptor cell differentiation (GO:0042491)|cellular response to electrical stimulus (GO:0071257)|dendrite development (GO:0016358)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|endocytosis (GO:0006897)|glutamate secretion (GO:0014047)|inner ear morphogenesis (GO:0042472)|intracellular protein transport (GO:0006886)|locomotory behavior (GO:0007626)|membrane organization (GO:0061024)|metabolic process (GO:0008152)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein targeting (GO:0006605)|regulation of secretion (GO:0051046)|regulation of synaptic plasticity (GO:0048167)|response to drug (GO:0042493)|sensory perception of sound (GO:0007605)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	apical part of cell (GO:0045177)|axon (GO:0030424)|cell cortex (GO:0005938)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|DNA-directed RNA polymerase II, holoenzyme (GO:0016591)|endocytic vesicle (GO:0030139)|extracellular vesicular exosome (GO:0070062)|filamentous actin (GO:0031941)|Golgi apparatus (GO:0005794)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|microvillus (GO:0005902)|neuronal cell body (GO:0043025)|nuclear membrane (GO:0031965)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|ruffle membrane (GO:0032587)|unconventional myosin complex (GO:0016461)|vesicle membrane (GO:0012506)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|minus-end directed microfilament motor activity (GO:0060001)|motor activity (GO:0003774)	p.?(1)		breast(2)|central_nervous_system(1)|endometrium(7)|kidney(5)|large_intestine(16)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	58		all_hematologic(105;0.189)		BRCA - Breast invasive adenocarcinoma(397;0.223)		TTCATTTTTAGGAACAAGAAC	0.313																																																	1	Unknown(1)	kidney(1)											134.0	132.0	133.0					6																	76570739		2203	4296	6499	SO:0001630	splice_region_variant	4646			U90236, AB002387	CCDS34487.1, CCDS75481.1	6q14.1	2014-09-17	2004-05-19		ENSG00000196586	ENSG00000196586		"""Myosins / Myosin superfamily : Class VI"""	7605	protein-coding gene	gene with protein product		600970	"""deafness, autosomal recessive 37"""	DFNA22, DFNB37		9259267, 11468689	Standard	XM_005248719		Approved	KIAA0389	uc003pih.1	Q9UM54	OTTHUMG00000015061	ENST00000369977.3:c.1474-1G>C	6.37:g.76570739G>C		Somatic		WXS	Illumina HiSeq	Phase_I	A6H8V4|E1P540|Q5TEM5|Q5TEM6|Q5TEM7|Q9BZZ7|Q9UEG2	Splice_Site	SNP	ENST00000369977.3	37	CCDS34487.1	.	.	.	.	.	.	.	.	.	.	G	25.5	4.644508	0.87859	.	.	ENSG00000196586	ENST00000428345;ENST00000369981;ENST00000369985;ENST00000369977;ENST00000369975	.	.	.	6.02	6.02	0.97574	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.5407	0.99260	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	MYO6	76627459	1.000000	0.71417	1.000000	0.80357	0.953000	0.61014	9.150000	0.94667	2.865000	0.98341	0.655000	0.94253	.		0.313	MYO6-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041279.2		NM_004999	Intron
NDUFC1	4717	hgsc.bcm.edu;ucsc.edu	37	4	140216207	140216209	+	In_Frame_Del	DEL	AAG	AAG	-			TCGA-BP-5004-01A-01D-1462-08	TCGA-BP-5004-11A-01D-1462-08	AAG	AAG	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3d82fe4-b491-4172-86da-429cf16508de	5df4ce0c-d0cf-4b9e-8182-ee09f3a2be9c	g.chr4:140216207_140216209delAAG	ENST00000544855.1	-	4	988_990	c.159_161delCTT	c.(157-162)ttcttg>ttg	p.F53del	NDUFC1_ENST00000539002.1_In_Frame_Del_p.F53del|NDUFC1_ENST00000394228.1_In_Frame_Del_p.F53del|NDUFC1_ENST00000507764.1_5'Flank|NDUFC1_ENST00000265500.4_In_Frame_Del_p.F53del|NDUFC1_ENST00000539387.1_In_Frame_Del_p.F53del|NDUFC1_ENST00000505036.1_In_Frame_Del_p.F53del|NDUFC1_ENST00000394223.1_In_Frame_Del_p.F53del	NM_001184986.1	NP_001171915.1	O43677	NDUC1_HUMAN	NADH dehydrogenase (ubiquinone) 1, subcomplex unknown, 1, 6kDa	53					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)	NADH dehydrogenase (ubiquinone) activity (GO:0008137)			endometrium(1)|upper_aerodigestive_tract(1)	2	all_hematologic(180;0.162)					ATAGATCCACAAGAAGACAGTGG	0.488											OREG0016331	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0																																										SO:0001651	inframe_deletion	4717			AF047184	CCDS3746.1	4q31.1	2011-07-04	2002-08-29		ENSG00000109390	ENSG00000109390		"""Mitochondrial respiratory chain complex / Complex I"""	7705	protein-coding gene	gene with protein product	"""complex I KFYI subunit"""	603844	"""NADH dehydrogenase (ubiquinone) 1, subcomplex unknown, 1 (6kD, KFYI)"""			9425316, 9763677	Standard	NM_001184986		Approved	KFYI	uc021xsa.1	O43677	OTTHUMG00000133387	ENST00000544855.1:c.159_161delCTT	4.37:g.140216210_140216212delAAG	ENSP00000441126:p.Phe53del	Somatic	1654	WXS	Illumina HiSeq	Phase_I	A8K532|Q3MIJ9	In_Frame_Del	DEL	ENST00000544855.1	37	CCDS3746.1																																																																																				0.488	NDUFC1-204	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257237.1		NM_002494	
NUMB	8650	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	14	73759584	73759584	+	Splice_Site	SNP	T	T	C			TCGA-BP-5004-01A-01D-1462-08	TCGA-BP-5004-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3d82fe4-b491-4172-86da-429cf16508de	5df4ce0c-d0cf-4b9e-8182-ee09f3a2be9c	g.chr14:73759584T>C	ENST00000355058.3	-	8	588		c.e8-2		NUMB_ENST00000555738.2_Splice_Site|NUMB_ENST00000555394.1_Splice_Site|NUMB_ENST00000554546.1_Splice_Site|NUMB_ENST00000560335.1_Splice_Site|NUMB_ENST00000555238.1_Splice_Site|NUMB_ENST00000356296.4_Splice_Site|NUMB_ENST00000554521.2_Splice_Site|NUMB_ENST00000535282.1_Splice_Site|NUMB_ENST00000359560.3_Splice_Site|NUMB_ENST00000544991.3_Splice_Site|NUMB_ENST00000556772.1_Splice_Site|NUMB_ENST00000557597.1_Splice_Site|NUMB_ENST00000454166.4_Splice_Site|NUMB_ENST00000559312.1_Splice_Site			P49757	NUMB_HUMAN	numb homolog (Drosophila)						adherens junction organization (GO:0034332)|axon guidance (GO:0007411)|lateral ventricle development (GO:0021670)|lung epithelial cell differentiation (GO:0060487)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of protein localization to plasma membrane (GO:1903077)|neuroblast division in subventricular zone (GO:0021849)|Notch signaling pathway (GO:0007219)|positive regulation of cell migration (GO:0030335)|positive regulation of neurogenesis (GO:0050769)|positive regulation of polarized epithelial cell differentiation (GO:0030862)	apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|clathrin-coated vesicle (GO:0030136)|early endosome (GO:0005769)|extrinsic component of plasma membrane (GO:0019897)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.?(1)		breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(3)|prostate(1)|skin(3)|urinary_tract(1)	28				BRCA - Breast invasive adenocarcinoma(234;0.00471)|OV - Ovarian serous cystadenocarcinoma(108;0.161)		TATGAGGTCCTAGAAAATACG	0.413																																																	1	Unknown(1)	kidney(1)											78.0	75.0	76.0					14																	73759584		2203	4300	6503	SO:0001630	splice_region_variant	8650			L40393	CCDS9814.1, CCDS32115.1, CCDS32116.1, CCDS55927.1	14q24.3	2011-11-25	2001-11-28			ENSG00000133961			8060	protein-coding gene	gene with protein product		603728	"""numb (Drosophila) homolog"", ""chromosome 14 open reading frame 41"""	C14orf41			Standard	NM_003744		Approved		uc001xny.1	P49757		ENST00000355058.3:c.310-2A>G	14.37:g.73759584T>C		Somatic		WXS	Illumina HiSeq	Phase_I	B1P2N5|B1P2N6|B1P2N7|B1P2N8|B1P2N9|B4E2B1|Q6NUQ7|Q86SY1|Q8WW73|Q9UBG1|Q9UEQ4|Q9UKE8|Q9UKE9|Q9UKF0|Q9UQJ4	Splice_Site	SNP	ENST00000355058.3	37	CCDS32116.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.438088	0.83885	.	.	ENSG00000133961	ENST00000554546;ENST00000356296;ENST00000557597;ENST00000555238;ENST00000355058;ENST00000359560;ENST00000555394;ENST00000544991;ENST00000454166;ENST00000555738;ENST00000554521;ENST00000535282;ENST00000326018;ENST00000555859;ENST00000555307;ENST00000554394	.	.	.	5.8	5.8	0.92144	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.1484	0.81586	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	NUMB	72829337	1.000000	0.71417	1.000000	0.80357	0.949000	0.60115	8.040000	0.89188	2.226000	0.72624	0.459000	0.35465	.		0.413	NUMB-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000414416.1			Intron
PCDHA10	56139	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	5	140236546	140236546	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5004-01A-01D-1462-08	TCGA-BP-5004-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3d82fe4-b491-4172-86da-429cf16508de	5df4ce0c-d0cf-4b9e-8182-ee09f3a2be9c	g.chr5:140236546G>A	ENST00000307360.5	+	1	913	c.913G>A	c.(913-915)Gat>Aat	p.D305N	PCDHA7_ENST00000525929.1_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA10_ENST00000506939.2_Missense_Mutation_p.D305N|PCDHA4_ENST00000512229.2_Intron|PCDHA6_ENST00000527624.1_Intron	NM_018901.2	NP_061724.1	Q9Y5I2	PCDAA_HUMAN	protocadherin alpha 10	305	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)	p.D305N(2)		NS(1)|breast(11)|cervix(1)|endometrium(11)|kidney(5)|large_intestine(13)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)	79			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AAAAGTAAATGATGCTATTGA	0.383																																																	2	Substitution - Missense(2)	kidney(2)											92.0	89.0	90.0					5																	140236546		2196	4270	6466	SO:0001583	missense	56139			AF152475	CCDS34255.1, CCDS54921.1, CCDS75325.1	5q31	2010-11-26			ENSG00000250120	ENSG00000250120		"""Cadherins / Protocadherins : Clustered"""	8664	other	complex locus constituent	"""KIAA0345-like 4"", ""ortholog to mouse CNR8"""	606316		CNRS8		10380929	Standard	NM_018901		Approved	CNR8, CRNR8, CNRN8, PCDH-ALPHA10		Q9Y5I2	OTTHUMG00000163372	ENST00000307360.5:c.913G>A	5.37:g.140236546G>A	ENSP00000304234:p.Asp305Asn	Somatic		WXS	Illumina HiSeq	Phase_I	A1L493|O75280|Q9NRU2	Missense_Mutation	SNP	ENST00000307360.5	37	CCDS54921.1	.	.	.	.	.	.	.	.	.	.	G	13.40	2.225876	0.39300	.	.	ENSG00000250120	ENST00000506939;ENST00000307360	T;T	0.51071	4.68;0.72	4.29	4.29	0.51040	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.37625	0.1010	N	0.16066	0.365	0.09310	N	1	B;B;P	0.37708	0.011;0.008;0.606	B;B;B	0.41271	0.014;0.008;0.352	T	0.38200	-0.9672	9	0.66056	D	0.02	.	14.5539	0.68086	0.0:0.1466:0.8534:0.0	.	305;305;305	Q9Y5I2-3;Q9Y5I2;Q9Y5I2-2	.;PCDAA_HUMAN;.	N	305	ENSP00000421030:D305N;ENSP00000304234:D305N	ENSP00000304234:D305N	D	+	1	0	PCDHA10	140216730	0.969000	0.33509	0.018000	0.16275	0.994000	0.84299	5.302000	0.65733	2.383000	0.81215	0.561000	0.74099	GAT		0.383	PCDHA10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372895.2		NM_018901	
PPFIA1	8500	hgsc.bcm.edu;ucsc.edu	37	11	70172880	70172888	+	In_Frame_Del	DEL	AAATCTGAA	AAATCTGAA	-	rs374865980		TCGA-BP-5004-01A-01D-1462-08	TCGA-BP-5004-11A-01D-1462-08	AAATCTGAA	AAATCTGAA	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3d82fe4-b491-4172-86da-429cf16508de	5df4ce0c-d0cf-4b9e-8182-ee09f3a2be9c	g.chr11:70172880_70172888delAAATCTGAA	ENST00000253925.7	+	7	1101_1109	c.886_894delAAATCTGAA	c.(886-894)aaatctgaadel	p.KSE296del	CTA-797E19.2_ENST00000526017.1_RNA|PPFIA1_ENST00000389547.3_In_Frame_Del_p.KSE296del|AP000487.6_ENST00000528607.1_RNA	NM_003626.3	NP_003617.1	Q13136	LIPA1_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 1	296					cell-matrix adhesion (GO:0007160)|negative regulation of establishment of protein localization to plasma membrane (GO:0090005)|negative regulation of stress fiber assembly (GO:0051497)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|presynaptic active zone (GO:0048786)	signal transducer activity (GO:0004871)			breast(3)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(11)|lung(31)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	65			BRCA - Breast invasive adenocarcinoma(2;1.04e-44)|LUSC - Lung squamous cell carcinoma(11;1.46e-14)|STAD - Stomach adenocarcinoma(18;0.0513)			AGATCTCATCAAATCTGAAGAAATGAACA	0.411																																																	0																																										SO:0001651	inframe_deletion	8500			U22816	CCDS31627.1, CCDS31628.1	11q13.3	2013-01-10			ENSG00000131626	ENSG00000131626		"""Sterile alpha motif (SAM) domain containing"""	9245	protein-coding gene	gene with protein product	"""Liprin-alpha1"""	611054				7796809, 9624153	Standard	NM_003626		Approved	LIP.1, LIPRIN	uc001opo.3	Q13136	OTTHUMG00000167266	ENST00000253925.7:c.886_894delAAATCTGAA	11.37:g.70172880_70172888delAAATCTGAA	ENSP00000253925:p.Lys296_Glu298del	Somatic		WXS	Illumina HiSeq	Phase_I	A6NLE3|Q13135|Q14567|Q8N4I2	In_Frame_Del	DEL	ENST00000253925.7	37	CCDS31627.1																																																																																				0.411	PPFIA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393905.1		NM_003626	
PRPF8	10594	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	17	1586888	1586888	+	Missense_Mutation	SNP	T	T	G			TCGA-BP-5004-01A-01D-1462-08	TCGA-BP-5004-11A-01D-1462-08	T	T	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3d82fe4-b491-4172-86da-429cf16508de	5df4ce0c-d0cf-4b9e-8182-ee09f3a2be9c	g.chr17:1586888T>G	ENST00000572621.1	-	2	473	c.208A>C	c.(208-210)Att>Ctt	p.I70L	PRPF8_ENST00000304992.6_Missense_Mutation_p.I70L			Q6P2Q9	PRP8_HUMAN	pre-mRNA processing factor 8	70					gene expression (GO:0010467)|mRNA processing (GO:0006397)|mRNA splicing, via spliceosome (GO:0000398)|RNA splicing (GO:0008380)|RNA splicing, via transesterification reactions (GO:0000375)	catalytic step 2 spliceosome (GO:0071013)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|U5 snRNP (GO:0005682)	poly(A) RNA binding (GO:0044822)|U5 snRNA binding (GO:0030623)|U6 snRNA binding (GO:0017070)	p.I70L(1)		NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(13)|lung(24)|ovary(2)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	77				UCEC - Uterine corpus endometrioid carcinoma (25;0.0855)		TGGTCTCGAATGATCTTCCTG	0.473																																																	1	Substitution - Missense(1)	kidney(1)											212.0	181.0	191.0					17																	1586888		2203	4300	6503	SO:0001583	missense	10594			AB007510	CCDS11010.1	17p13.3	2013-07-16	2013-06-10		ENSG00000174231	ENSG00000174231			17340	protein-coding gene	gene with protein product		607300	"""PRP8 pre-mRNA processing factor 8 homolog (yeast)"", ""PRP8 pre-mRNA processing factor 8 homolog (S. cerevisiae)"""	RP13		11468273, 10411133	Standard	NM_006445		Approved	PRPC8, Prp8, hPrp8, SNRNP220	uc002fte.3	Q6P2Q9	OTTHUMG00000090553	ENST00000572621.1:c.208A>C	17.37:g.1586888T>G	ENSP00000460348:p.Ile70Leu	Somatic		WXS	Illumina HiSeq	Phase_I	O14547|O75965	Missense_Mutation	SNP	ENST00000572621.1	37	CCDS11010.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.110803	0.77210	.	.	ENSG00000174231	ENST00000304992	T	0.46451	0.87	5.41	4.31	0.51392	Pre-mRNA-processing-splicing factor 8 (2);	0.053046	0.64402	D	0.000001	T	0.36663	0.0975	L	0.43646	1.37	0.80722	D	1	B	0.12013	0.005	B	0.24269	0.052	T	0.11941	-1.0567	10	0.45353	T	0.12	.	11.6091	0.51049	0.1335:0.0:0.0:0.8665	.	70	Q6P2Q9	PRP8_HUMAN	L	70	ENSP00000304350:I70L	ENSP00000304350:I70L	I	-	1	0	PRPF8	1533638	1.000000	0.71417	0.998000	0.56505	0.957000	0.61999	7.466000	0.80914	0.846000	0.35142	0.383000	0.25322	ATT		0.473	PRPF8-002	NOVEL	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438412.2			
RNASE3	6037	hgsc.bcm.edu;ucsc.edu	37	14	21359893	21359893	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BP-5004-01A-01D-1462-08	TCGA-BP-5004-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3d82fe4-b491-4172-86da-429cf16508de	5df4ce0c-d0cf-4b9e-8182-ee09f3a2be9c	g.chr14:21359893delG	ENST00000304639.3	+	2	106	c.48delG	c.(46-48)ttgfs	p.L16fs		NM_002935.2	NP_002926.2	P12724	ECP_HUMAN	ribonuclease, RNase A family, 3	16					antibacterial humoral response (GO:0019731)|defense response to Gram-positive bacterium (GO:0050830)|innate immune response in mucosa (GO:0002227)|RNA catabolic process (GO:0006401)|RNA phosphodiester bond hydrolysis (GO:0090501)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	endonuclease activity (GO:0004519)|nucleic acid binding (GO:0003676)|ribonuclease activity (GO:0004540)			endometrium(1)|large_intestine(1)|lung(6)|ovary(1)	9	all_cancers(95;0.00453)		OV - Ovarian serous cystadenocarcinoma(11;6.3e-09)|Epithelial(56;1.42e-07)|all cancers(55;5.48e-07)	GBM - Glioblastoma multiforme(265;0.0187)	Pranlukast(DB01411)	TTCTTCTGTTGGGGCTTATGG	0.507																																																	0													102.0	118.0	113.0					14																	21359893		2193	4300	6493	SO:0001589	frameshift_variant	6037			X55990	CCDS9560.1	14q11.2	2014-03-13	2010-05-07		ENSG00000169397	ENSG00000169397	3.1.27.-	"""Ribonucleases, RNase A"""	10046	protein-coding gene	gene with protein product	"""eosinophil cationic protein"""	131398		RNS3		1577491	Standard	NM_002935		Approved	ECP	uc001vyj.3	P12724	OTTHUMG00000029604	ENST00000304639.3:c.48delG	14.37:g.21359893delG	ENSP00000302324:p.Leu16fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q4VBC1|Q8WTP7|Q8WZ62|Q9GZN9	Frame_Shift_Del	DEL	ENST00000304639.3	37	CCDS9560.1																																																																																				0.507	RNASE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073795.2		NM_002935	
RBM23	55147	hgsc.bcm.edu	37	14	23371268	23371268	+	Silent	SNP	A	A	G	rs56708790	byFrequency	TCGA-BP-5004-01A-01D-1462-08	TCGA-BP-5004-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3d82fe4-b491-4172-86da-429cf16508de	5df4ce0c-d0cf-4b9e-8182-ee09f3a2be9c	g.chr14:23371268A>G	ENST00000359890.3	-	12	1362	c.1167T>C	c.(1165-1167)gcT>gcC	p.A389A	RBM23_ENST00000399922.2_Silent_p.A373A|RBM23_ENST00000346528.5_Silent_p.A355A|RBM23_ENST00000542016.2_Silent_p.A219A|RBM23_ENST00000555209.1_Silent_p.A139A	NM_001077351.1	NP_001070819.1	Q86U06	RBM23_HUMAN	RNA binding motif protein 23	389	Ala-rich.				mRNA processing (GO:0006397)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(3)|kidney(2)|lung(3)|prostate(1)|skin(1)	10	all_cancers(95;4.69e-05)			GBM - Glioblastoma multiforme(265;0.0128)		cggcggcggcagcagcagcag	0.552													A|||	195	0.0389377	0.0053	0.0778	5008	,	,		16698	0.0179		0.0676	False		,,,				2504	0.0491																0								A	,,	54,3898		1,52,1923	34.0	35.0	35.0		1167,1065,1119	-2.4	0.4	14	dbSNP_129	35	529,7793		7,515,3639	yes	coding-synonymous,coding-synonymous,coding-synonymous	RBM23	NM_001077351.1,NM_001077352.1,NM_018107.4	,,	8,567,5562	GG,GA,AA		6.3566,1.3664,4.7499	,,	389/440,355/406,373/424	23371268	583,11691	1976	4161	6137	SO:0001819	synonymous_variant	55147			AF275678	CCDS41919.1, CCDS41920.1, CCDS41921.1	14q11.1	2014-07-03	2004-04-23	2004-04-23		ENSG00000100461		"""RNA binding motif (RRM) containing"""	20155	protein-coding gene	gene with protein product	"""coactivator of activating protein-1 and estrogen recep- tors beta"""		"""RNA-binding region (RNP1, RRM) containing 4"""	RNPC4		15694343	Standard	NM_018107		Approved	FLJ10482, CAPERbeta	uc001whg.3	Q86U06		ENST00000359890.3:c.1167T>C	14.37:g.23371268A>G		Somatic		WXS	Illumina HiSeq	Phase_I	D3DS32|Q8ND16|Q8TB88|Q8WY40|Q9BUJ1|Q9NVV7	Silent	SNP	ENST00000359890.3	37	CCDS41921.1	252	0.11538461538461539	8	0.016260162601626018	50	0.13812154696132597	73	0.12762237762237763	121	0.15963060686015831	A	0.768	-0.766868	0.02974	0.013664	0.063566	ENSG00000100461	ENST00000553884	.	.	.	3.36	-2.38	0.06622	.	.	.	.	.	T	0.00300	0.0009	.	.	.	0.53005	D	0.999961	.	.	.	.	.	.	T	0.04294	-1.0962	4	.	.	.	.	8.3885	0.32514	0.37:0.0:0.63:0.0	rs56708790;rs61730800	.	.	.	R	164	.	.	C	-	1	0	RBM23	22441108	0.115000	0.22152	0.443000	0.26883	0.195000	0.23768	0.047000	0.14056	-0.453000	0.07076	0.402000	0.26972	TGC		0.552	RBM23-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000413545.3			
RNF148	378925	broad.mit.edu;hgsc.bcm.edu	37	7	122342196	122342196	+	Silent	SNP	G	G	C			TCGA-BP-5004-01A-01D-1462-08	TCGA-BP-5004-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3d82fe4-b491-4172-86da-429cf16508de	5df4ce0c-d0cf-4b9e-8182-ee09f3a2be9c	g.chr7:122342196G>C	ENST00000434824.1	-	1	825	c.609C>G	c.(607-609)gcC>gcG	p.A203A	CADPS2_ENST00000449022.2_Intron|CADPS2_ENST00000334010.7_Intron|CADPS2_ENST00000412584.2_Intron|CADPS2_ENST00000313070.7_Intron|RNF133_ENST00000340112.2_5'Flank|RNF148_ENST00000447240.1_Intron	NM_198085.1	NP_932351.1	Q8N7C7	RN148_HUMAN	ring finger protein 148	203						integral component of membrane (GO:0016021)	zinc ion binding (GO:0008270)	p.A203A(2)		endometrium(2)|kidney(1)|large_intestine(6)|lung(7)	16						AGTAAAAGTAGGCAATTGTGG	0.438																																																	2	Substitution - coding silent(2)	kidney(2)											117.0	115.0	115.0					7																	122342196		2000	4177	6177	SO:0001819	synonymous_variant	378925			BC029264	CCDS47692.1	7q31.33	2013-01-09			ENSG00000235631	ENSG00000235631		"""RING-type (C3HC4) zinc fingers"""	22411	protein-coding gene	gene with protein product						8744354	Standard	NM_198085		Approved	MGC35222	uc003vkk.1	Q8N7C7	OTTHUMG00000157099	ENST00000434824.1:c.609C>G	7.37:g.122342196G>C		Somatic		WXS	Illumina HiSeq	Phase_I	A4D0X4|Q8N308	Silent	SNP	ENST00000434824.1	37	CCDS47692.1																																																																																				0.438	RNF148-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347424.1		NM_198085	
MSRB1	51734	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	16	1990864	1990864	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5004-01A-01D-1462-08	TCGA-BP-5004-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3d82fe4-b491-4172-86da-429cf16508de	5df4ce0c-d0cf-4b9e-8182-ee09f3a2be9c	g.chr16:1990864C>G	ENST00000361871.3	-	3	403	c.234G>C	c.(232-234)ttG>ttC	p.L78F	MSRB1_ENST00000399753.2_Missense_Mutation_p.G200R|MSRB1_ENST00000489198.1_5'Flank|MSRB1_ENST00000564908.1_Missense_Mutation_p.G125R	NM_016332.2	NP_057416.1	Q9NZV6	MSRB1_HUMAN	methionine sulfoxide reductase B1	78					actin filament polymerization (GO:0030041)|innate immune response (GO:0045087)|protein repair (GO:0030091)|response to oxidative stress (GO:0006979)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	actin binding (GO:0003779)|methionine-R-sulfoxide reductase activity (GO:0070191)|peptide-methionine (R)-S-oxide reductase activity (GO:0033743)|zinc ion binding (GO:0008270)	p.L78F(1)								L-Methionine(DB00134)	ACTCGTGGCCCAACCCATTGC	0.567																																																	1	Substitution - Missense(1)	kidney(1)											45.0	47.0	47.0					16																	1990864		1989	4179	6168	SO:0001583	missense	0			AF166124	CCDS42100.1	16p13.3	2012-05-22	2012-03-01	2012-03-01	ENSG00000198736	ENSG00000198736			14133	protein-coding gene	gene with protein product		606216	"""selenoprotein X, 1"""	SEPX1		10608886, 20634897	Standard	NM_016332		Approved	SelR, SepR, SelX	uc021tam.1	Q9NZV6	OTTHUMG00000129143	ENST00000361871.3:c.234G>C	16.37:g.1990864C>G	ENSP00000355084:p.Leu78Phe	Somatic		WXS	Illumina HiSeq	Phase_I	Q96RX6|Q9BTV2|Q9P0B1	Missense_Mutation	SNP	ENST00000361871.3	37	CCDS42100.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.70|14.70	2.612921|2.612921	0.46631|0.46631	.|.	.|.	ENSG00000198736|ENSG00000198736	ENST00000399753|ENST00000361871	D|D	0.82984|0.86030	-1.67|-2.06	4.61|4.61	2.58|2.58	0.30949|0.30949	.|Mss4-like (1);Methionine sulphoxide reductase B (2);	0.000000|.	0.85682|.	D|.	0.000000|.	D|D	0.93805|0.93805	0.8019|0.8019	H|H	0.97077|0.97077	3.935|3.935	0.28348|0.28348	N|N	0.921015|0.921015	.|D	.|0.76494	.|0.999	.|D	.|0.71870	.|0.975	D|D	0.86400|0.86400	0.1741|0.1741	8|9	0.87932|0.87932	D|D	0|0	.|.	8.117|8.117	0.30948|0.30948	0.0:0.7476:0.1619:0.0905|0.0:0.7476:0.1619:0.0905	.|.	.|78	.|Q9NZV6	.|MSRB1_HUMAN	R|F	200|78	ENSP00000382657:G200R|ENSP00000355084:L78F	ENSP00000382657:G200R|ENSP00000355084:L78F	G|L	-|-	1|3	0|2	SEPX1|SEPX1	1930865|1930865	0.996000|0.996000	0.38824|0.38824	0.992000|0.992000	0.48379|0.48379	0.878000|0.878000	0.50629|0.50629	0.446000|0.446000	0.21694|0.21694	0.882000|0.882000	0.36016|0.36016	0.650000|0.650000	0.86243|0.86243	GGG|TTG		0.567	MSRB1-001	KNOWN	basic|appris_principal|CCDS|seleno	protein_coding	protein_coding	OTTHUMT00000251203.1		NM_016332	
SERPINB4	6318	broad.mit.edu;hgsc.bcm.edu	37	18	61310791	61310791	+	Silent	SNP	G	G	C			TCGA-BP-5004-01A-01D-1462-08	TCGA-BP-5004-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3d82fe4-b491-4172-86da-429cf16508de	5df4ce0c-d0cf-4b9e-8182-ee09f3a2be9c	g.chr18:61310791G>C	ENST00000341074.5	-	2	136	c.21C>G	c.(19-21)gcC>gcG	p.A7A	SERPINB4_ENST00000356424.6_Silent_p.A7A	NM_002974.2	NP_002965.1	P48594	SPB4_HUMAN	serpin peptidase inhibitor, clade B (ovalbumin), member 4	7					negative regulation of endopeptidase activity (GO:0010951)|negative regulation of peptidase activity (GO:0010466)|regulation of proteolysis (GO:0030162)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	enzyme binding (GO:0019899)|serine-type endopeptidase inhibitor activity (GO:0004867)	p.A7A(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(7)|lung(22)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	42						ACTTGGTGTTGGCTTCACTGA	0.398																																																	1	Substitution - coding silent(1)	kidney(1)											238.0	222.0	227.0					18																	61310791		2203	4300	6503	SO:0001819	synonymous_variant	6318			X89015	CCDS11986.1	18q21.33	2014-02-18	2005-08-18		ENSG00000206073	ENSG00000206073		"""Serine (or cysteine) peptidase inhibitors"""	10570	protein-coding gene	gene with protein product	"""squamous cell carcinoma antigen 2"""	600518	"""serine (or cysteine) proteinase inhibitor, clade B (ovalbumin), member 4"""	SCCA2		7724531, 14630915, 24172014	Standard	NM_175041		Approved	PI11, LEUPIN, SCCA-2, SCCA1		P48594	OTTHUMG00000060405	ENST00000341074.5:c.21C>G	18.37:g.61310791G>C		Somatic		WXS	Illumina HiSeq	Phase_I	A8K847	Silent	SNP	ENST00000341074.5	37	CCDS11986.1	.	.	.	.	.	.	.	.	.	.	G	3.006	-0.204945	0.06180	.	.	ENSG00000206073	ENST00000413673	.	.	.	3.77	-7.54	0.01332	.	.	.	.	.	T	0.19327	0.0464	.	.	.	0.21822	N	0.999528	.	.	.	.	.	.	T	0.21759	-1.0236	4	.	.	.	.	5.0282	0.14396	0.0969:0.2153:0.5002:0.1876	.	.	.	.	R	9	.	.	P	-	2	0	SERPINB4	59461771	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	-0.484000	0.06528	-2.010000	0.00953	-0.360000	0.07572	CCA		0.398	SERPINB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133794.2		NM_175041	
SFMBT1	51460	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	3	52940142	52940142	+	Frame_Shift_Del	DEL	A	A	-			TCGA-BP-5004-01A-01D-1462-08	TCGA-BP-5004-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3d82fe4-b491-4172-86da-429cf16508de	5df4ce0c-d0cf-4b9e-8182-ee09f3a2be9c	g.chr3:52940142delA	ENST00000394752.3	-	20	2829	c.2447delT	c.(2446-2448)atafs	p.I816fs	SFMBT1_ENST00000394750.1_Frame_Shift_Del_p.I816fs|SFMBT1_ENST00000358080.2_Frame_Shift_Del_p.I816fs|SFMBT1_ENST00000296295.6_Intron	NM_016329.3	NP_057413.2	Q9UHJ3	SMBT1_HUMAN	Scm-like with four mbt domains 1	816	SAM.				cell differentiation (GO:0030154)|chromatin modification (GO:0016568)|negative regulation of muscle organ development (GO:0048635)|negative regulation of transcription, DNA-templated (GO:0045892)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	histone binding (GO:0042393)|transcription corepressor activity (GO:0003714)			breast(2)|endometrium(3)|kidney(3)|large_intestine(8)|lung(4)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	24				BRCA - Breast invasive adenocarcinoma(193;9.91e-05)|Kidney(197;0.000644)|KIRC - Kidney renal clear cell carcinoma(197;0.000792)|OV - Ovarian serous cystadenocarcinoma(275;0.113)		GTCTAGGAATATTCTTGCTAA	0.383																																																	0													111.0	102.0	105.0					3																	52940142		2203	4300	6503	SO:0001589	frameshift_variant	51460			AF168132	CCDS2867.1	3p21.31	2013-01-10			ENSG00000163935	ENSG00000163935		"""Sterile alpha motif (SAM) domain containing"""	20255	protein-coding gene	gene with protein product		607319				10661410	Standard	NM_016329		Approved	RU1, DKFZp434L243, SFMBT	uc003dgh.3	Q9UHJ3	OTTHUMG00000159052	ENST00000394752.3:c.2447delT	3.37:g.52940142delA	ENSP00000378235:p.Ile816fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q402F7|Q96C73|Q9Y4Q9	Frame_Shift_Del	DEL	ENST00000394752.3	37	CCDS2867.1																																																																																				0.383	SFMBT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353040.3		NM_016329	
SH2D3C	10044	hgsc.bcm.edu;ucsc.edu	37	9	130502552	130502552	+	Frame_Shift_Del	DEL	G	G	-			TCGA-BP-5004-01A-01D-1462-08	TCGA-BP-5004-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3d82fe4-b491-4172-86da-429cf16508de	5df4ce0c-d0cf-4b9e-8182-ee09f3a2be9c	g.chr9:130502552delG	ENST00000314830.8	-	10	2298	c.2185delC	c.(2185-2187)ctcfs	p.L729fs	SH2D3C_ENST00000471939.1_5'Flank|SH2D3C_ENST00000429553.1_Frame_Shift_Del_p.L375fs|SH2D3C_ENST00000373277.4_Frame_Shift_Del_p.L572fs|SH2D3C_ENST00000373276.3_Frame_Shift_Del_p.L661fs|SH2D3C_ENST00000373274.3_Frame_Shift_Del_p.L569fs|SH2D3C_ENST00000420366.1_Frame_Shift_Del_p.L571fs	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	729	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						CCCTCGTTGAGGCTCTTGAGA	0.572																																																	0													137.0	107.0	117.0					9																	130502552		2203	4300	6503	SO:0001589	frameshift_variant	10044			AF124251	CCDS6877.1, CCDS6878.1, CCDS48026.1, CCDS48028.1, CCDS59145.1	9q33.1-q33.3	2013-02-14	2002-01-14		ENSG00000095370	ENSG00000095370		"""SH2 domain containing"""	16884	protein-coding gene	gene with protein product		604722	"""SH2 domain-containing 3C"""			10187783	Standard	NM_170600		Approved	NSP3	uc004bsc.3	Q8N5H7	OTTHUMG00000020717	ENST00000314830.8:c.2185delC	9.37:g.130502552delG	ENSP00000317817:p.Leu729fs	Somatic		WXS	Illumina HiSeq	Phase_I	A8K5S8|E9PG48|Q5HYE5|Q5JU31|Q6UY42|Q8N6X3|Q9Y2X5	Frame_Shift_Del	DEL	ENST00000314830.8	37	CCDS6877.1																																																																																				0.572	SH2D3C-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054264.1		NM_005489	
SYT11	23208	hgsc.bcm.edu;ucsc.edu	37	1	155829566	155829566	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BP-5004-01A-01D-1462-08	TCGA-BP-5004-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3d82fe4-b491-4172-86da-429cf16508de	5df4ce0c-d0cf-4b9e-8182-ee09f3a2be9c	g.chr1:155829566delC	ENST00000368324.4	+	1	267	c.14delC	c.(13-15)accfs	p.T5fs	GON4L_ENST00000471341.1_5'Flank|GON4L_ENST00000271883.5_5'Flank|SYT11_ENST00000539162.1_5'UTR|GON4L_ENST00000368331.1_5'Flank|GON4L_ENST00000361040.5_5'Flank|GON4L_ENST00000437809.1_5'Flank	NM_152280.4	NP_689493.3	Q9BT88	SYT11_HUMAN	synaptotagmin XI	5					negative regulation of neurotransmitter secretion (GO:0046929)	cell junction (GO:0030054)|integral component of plasma membrane (GO:0005887)|synaptic vesicle (GO:0008021)	metal ion binding (GO:0046872)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(1)|lung(12)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(266;0.133)|all_hematologic(923;0.145)|all_neural(408;0.195)		OV - Ovarian serous cystadenocarcinoma(3;0.000162)			GCTGAGATCACCAATATCCGA	0.527																																																	0													218.0	182.0	194.0					1																	155829566		2203	4300	6503	SO:0001589	frameshift_variant	23208			D38522	CCDS1122.1	1q22	2013-01-21			ENSG00000132718	ENSG00000132718		"""Synaptotagmins"""	19239	protein-coding gene	gene with protein product		608741				11543631	Standard	NM_152280		Approved	KIAA0080, MGC10881, MGC17226, DKFZp781D015	uc001fmg.3	Q9BT88	OTTHUMG00000014105	ENST00000368324.4:c.14delC	1.37:g.155829566delC	ENSP00000357307:p.Thr5fs	Somatic		WXS	Illumina HiSeq	Phase_I	Q14998|Q5W0D4|Q68CT5|Q8IXU3|Q96SU2	Frame_Shift_Del	DEL	ENST00000368324.4	37	CCDS1122.1																																																																																				0.527	SYT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039597.1		NM_152280	
TLN2	83660	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	15	63030474	63030474	+	Missense_Mutation	SNP	A	A	T			TCGA-BP-5004-01A-01D-1462-08	TCGA-BP-5004-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3d82fe4-b491-4172-86da-429cf16508de	5df4ce0c-d0cf-4b9e-8182-ee09f3a2be9c	g.chr15:63030474A>T	ENST00000561311.1	+	29	3859	c.3629A>T	c.(3628-3630)gAt>gTt	p.D1210V	TLN2_ENST00000306829.6_Missense_Mutation_p.D1210V|TLN2_ENST00000559908.1_3'UTR			Q9Y4G6	TLN2_HUMAN	talin 2	1210					cell adhesion (GO:0007155)|cell-cell junction assembly (GO:0007043)|cytoskeletal anchoring at plasma membrane (GO:0007016)	actin cytoskeleton (GO:0015629)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|synapse (GO:0045202)	actin binding (GO:0003779)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.D1210V(1)		NS(3)|breast(6)|central_nervous_system(3)|endometrium(8)|kidney(8)|large_intestine(20)|lung(34)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)	99						GGGCAGAAGGATGTGGACGTG	0.507																																																	1	Substitution - Missense(1)	kidney(1)											151.0	136.0	141.0					15																	63030474		2203	4300	6503	SO:0001583	missense	83660			AB002318	CCDS32261.1	15q15-q21	2008-07-03			ENSG00000171914	ENSG00000171914			15447	protein-coding gene	gene with protein product		607349				9205841, 11527381	Standard	NM_015059		Approved	KIAA0320, ILWEQ	uc002alb.4	Q9Y4G6	OTTHUMG00000133679	ENST00000561311.1:c.3629A>T	15.37:g.63030474A>T	ENSP00000453508:p.Asp1210Val	Somatic		WXS	Illumina HiSeq	Phase_I	A6NLB8	Missense_Mutation	SNP	ENST00000561311.1	37	CCDS32261.1	.	.	.	.	.	.	.	.	.	.	A	32	5.178945	0.94846	.	.	ENSG00000171914	ENST00000306829	T	0.71934	-0.61	5.5	5.5	0.81552	.	0.042308	0.85682	D	0.000000	D	0.85120	0.5624	M	0.83012	2.62	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.86936	0.2076	10	0.59425	D	0.04	-17.8953	15.9002	0.79369	1.0:0.0:0.0:0.0	.	1210	Q9Y4G6	TLN2_HUMAN	V	1210	ENSP00000303476:D1210V	ENSP00000303476:D1210V	D	+	2	0	TLN2	60817766	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.287000	0.95975	2.219000	0.72066	0.533000	0.62120	GAT		0.507	TLN2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257878.2			
TNNT3	7140	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	1955173	1955173	+	Missense_Mutation	SNP	G	G	A			TCGA-BP-5004-01A-01D-1462-08	TCGA-BP-5004-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3d82fe4-b491-4172-86da-429cf16508de	5df4ce0c-d0cf-4b9e-8182-ee09f3a2be9c	g.chr11:1955173G>A	ENST00000397301.1	+	12	342	c.334G>A	c.(334-336)Gca>Aca	p.A112T	TNNT3_ENST00000397304.2_Missense_Mutation_p.A82T|TNNT3_ENST00000381549.3_Missense_Mutation_p.A93T|TNNT3_ENST00000446240.1_Missense_Mutation_p.A82T|TNNT3_ENST00000278317.6_Missense_Mutation_p.A101T|TNNT3_ENST00000360603.3_Missense_Mutation_p.A95T|TNNT3_ENST00000493234.1_3'UTR|TNNT3_ENST00000381589.3_Missense_Mutation_p.A99T|TNNT3_ENST00000381579.3_Missense_Mutation_p.A93T|TNNT3_ENST00000381561.4_Missense_Mutation_p.A104T|TNNT3_ENST00000381548.3_Missense_Mutation_p.A103T|TNNT3_ENST00000381558.1_Missense_Mutation_p.A93T			P45378	TNNT3_HUMAN	troponin T type 3 (skeletal, fast)	112					ATP catabolic process (GO:0006200)|muscle filament sliding (GO:0030049)|regulation of ATPase activity (GO:0043462)|regulation of striated muscle contraction (GO:0006942)|skeletal muscle contraction (GO:0003009)	cytosol (GO:0005829)|troponin complex (GO:0005861)	calcium-dependent protein binding (GO:0048306)|tropomyosin binding (GO:0005523)|troponin C binding (GO:0030172)|troponin I binding (GO:0031013)	p.A101T(1)|p.A99T(1)		breast(2)|endometrium(1)|kidney(1)|lung(8)|ovary(1)|prostate(1)|skin(4)|stomach(1)	19		all_epithelial(84;0.000138)|Breast(177;0.000962)|Ovarian(85;0.0014)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.00253)|Lung(200;0.0333)|LUSC - Lung squamous cell carcinoma(625;0.0826)		GAAGCGCCGTGCAGAGAGAGC	0.652																																																	2	Substitution - Missense(2)	kidney(2)											40.0	42.0	41.0					11																	1955173		2200	4297	6497	SO:0001583	missense	7140			M21984	CCDS7727.1, CCDS41594.1, CCDS41595.1, CCDS41596.1	11p15.5	2014-09-17	2005-09-12		ENSG00000130595	ENSG00000130595			11950	protein-coding gene	gene with protein product	"""troponin-T3, skeletal, fast"""	600692	"""troponin T3, skeletal, fast"""			8172653	Standard	NM_001042782		Approved	AMCD2B, DA2B, FSSV, DKFZp779M2348	uc001lup.4	P45378	OTTHUMG00000012475	ENST00000397301.1:c.334G>A	11.37:g.1955173G>A	ENSP00000380468:p.Ala112Thr	Somatic		WXS	Illumina HiSeq	Phase_I	A8MQ76|A8MSW1|B3KPX3|B7WP64|B7ZL26|B7ZVV9|Q12975|Q12976|Q12977|Q12978|Q17RG9|Q6FH29|Q6N056|Q86TH6	Missense_Mutation	SNP	ENST00000397301.1	37		.	.	.	.	.	.	.	.	.	.	.	15.60	2.881286	0.51801	.	.	ENSG00000130595	ENST00000278317;ENST00000397309;ENST00000381561;ENST00000381548;ENST00000360603;ENST00000381549;ENST00000381589;ENST00000381579;ENST00000381557;ENST00000453458;ENST00000381563;ENST00000344578;ENST00000381558;ENST00000397301;ENST00000397304;ENST00000446240	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.92647	-3.08;-3.08;-3.08;-3.08;-3.08;-3.08;-3.08;-3.08;-3.08;-3.08;-3.08;-3.08;-3.08;-3.08;-3.08	4.14	4.14	0.48551	.	0.120985	0.53938	D	0.000041	D	0.92093	0.7494	M	0.66439	2.03	0.58432	D	0.999993	P;P;P;P	0.50156	0.932;0.932;0.932;0.932	P;P;P;P	0.45856	0.495;0.495;0.495;0.495	D	0.93130	0.6532	10	0.56958	D	0.05	-12.1919	16.9606	0.86271	0.0:0.0:1.0:0.0	.	101;93;99;93	P45378-2;P45378-7;P45378-6;P45378-4	.;.;.;.	T	101;113;104;103;95;93;99;93;87;82;104;88;93;112;82;82	ENSP00000278317:A101T;ENSP00000370973:A104T;ENSP00000370960:A103T;ENSP00000353815:A95T;ENSP00000370961:A93T;ENSP00000371001:A99T;ENSP00000370991:A93T;ENSP00000370969:A87T;ENSP00000415614:A82T;ENSP00000370975:A104T;ENSP00000344870:A88T;ENSP00000370970:A93T;ENSP00000380468:A112T;ENSP00000380471:A82T;ENSP00000413203:A82T	ENSP00000278317:A101T	A	+	1	0	TNNT3	1911749	1.000000	0.71417	0.020000	0.16555	0.300000	0.27592	4.199000	0.58426	2.314000	0.78098	0.313000	0.20887	GCA		0.652	TNNT3-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000142920.3		NM_006757	
TNS1	7145	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	218713105	218713105	+	Missense_Mutation	SNP	C	C	A			TCGA-BP-5004-01A-01D-1462-08	TCGA-BP-5004-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3d82fe4-b491-4172-86da-429cf16508de	5df4ce0c-d0cf-4b9e-8182-ee09f3a2be9c	g.chr2:218713105C>A	ENST00000171887.4	-	17	2212	c.1760G>T	c.(1759-1761)gGt>gTt	p.G587V	TNS1_ENST00000430930.1_Missense_Mutation_p.G587V|TNS1_ENST00000480665.1_5'Flank|TNS1_ENST00000419504.1_Missense_Mutation_p.G587V	NM_022648.4	NP_072174.3	Q9HBL0	TENS1_HUMAN	tensin 1	587					cell-substrate junction assembly (GO:0007044)|fibroblast migration (GO:0010761)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)	poly(A) RNA binding (GO:0044822)	p.G712V(1)|p.G587V(1)		breast(2)|cervix(1)|endometrium(6)|kidney(3)|large_intestine(23)|liver(1)|lung(24)|ovary(3)|pancreas(1)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	79		Renal(207;0.0483)|Lung NSC(271;0.213)		Epithelial(149;4.43e-06)|all cancers(144;0.000653)|LUSC - Lung squamous cell carcinoma(224;0.0091)|Lung(261;0.013)		GCCAGCTAAACCCTCCTGTGC	0.667																																																	2	Substitution - Missense(2)	kidney(2)											39.0	38.0	39.0					2																	218713105		2203	4299	6502	SO:0001583	missense	7145			AB209238	CCDS2407.1	2q35-q36	2014-06-13	2005-05-13	2005-05-13	ENSG00000079308	ENSG00000079308		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"", ""SH2 domain containing"""	11973	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 155"""	600076	"""tensin"", ""matrix-remodelling associated 6"""	TNS, MXRA6			Standard	NM_022648		Approved	DKFZp586K0617, PPP1R155	uc002vgt.2	Q9HBL0	OTTHUMG00000133056	ENST00000171887.4:c.1760G>T	2.37:g.218713105C>A	ENSP00000171887:p.Gly587Val	Somatic		WXS	Illumina HiSeq	Phase_I	Q4ZG71|Q6IPI5	Missense_Mutation	SNP	ENST00000171887.4	37	CCDS2407.1	.	.	.	.	.	.	.	.	.	.	C	11.88	1.770355	0.31320	.	.	ENSG00000079308	ENST00000171887;ENST00000419504;ENST00000430930;ENST00000446903	D;D;D;D	0.93763	-2.76;-2.76;-2.77;-3.28	4.57	3.68	0.42216	.	0.547984	0.19133	N	0.121895	D	0.86802	0.6020	L	0.36672	1.1	0.41043	D	0.985243	B;B;B;P;P	0.42123	0.048;0.303;0.357;0.771;0.612	B;B;B;B;B	0.37943	0.006;0.12;0.094;0.261;0.203	D	0.84444	0.0584	10	0.72032	D	0.01	.	3.6063	0.08043	0.0:0.5524:0.233:0.2146	.	587;641;587;587;587	B2RU35;A1L0S7;Q9HBL0;E9PGF5;E9PF55	.;.;TENS1_HUMAN;.;.	V	587;587;587;712	ENSP00000171887:G587V;ENSP00000408724:G587V;ENSP00000406016:G587V;ENSP00000405460:G712V	ENSP00000171887:G587V	G	-	2	0	TNS1	218421350	0.001000	0.12720	0.990000	0.47175	0.981000	0.71138	0.838000	0.27572	1.120000	0.41904	0.561000	0.74099	GGT		0.667	TNS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256672.2		NM_022648	
TP53BP1	7158	hgsc.bcm.edu;ucsc.edu	37	15	43724668	43724668	+	Frame_Shift_Del	DEL	C	C	-			TCGA-BP-5004-01A-01D-1462-08	TCGA-BP-5004-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3d82fe4-b491-4172-86da-429cf16508de	5df4ce0c-d0cf-4b9e-8182-ee09f3a2be9c	g.chr15:43724668delC	ENST00000263801.3	-	17	3636	c.3384delG	c.(3382-3384)cagfs	p.Q1128fs	TP53BP1_ENST00000450115.2_Frame_Shift_Del_p.Q1133fs|TP53BP1_ENST00000382039.3_Frame_Shift_Del_p.Q1133fs|TP53BP1_ENST00000382044.4_Frame_Shift_Del_p.Q1133fs	NM_005657.2	NP_005648.1	Q12888	TP53B_HUMAN	tumor protein p53 binding protein 1	1128					cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|double-strand break repair (GO:0006302)|double-strand break repair via homologous recombination (GO:0000724)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|replication fork (GO:0005657)	damaged DNA binding (GO:0003684)|methylated histone binding (GO:0035064)|p53 binding (GO:0002039)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription cofactor activity (GO:0001104)|telomeric DNA binding (GO:0042162)			breast(4)|endometrium(5)|kidney(7)|large_intestine(22)|lung(13)|ovary(4)|pancreas(2)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)|urinary_tract(3)	72		all_cancers(109;6.94e-11)|all_epithelial(112;2.69e-09)|Lung NSC(122;7.86e-07)|all_lung(180;7.84e-06)|Melanoma(134;0.0728)		GBM - Glioblastoma multiforme(94;1.59e-06)		GTCCTTCTTTCTGGTCTTCTA	0.468								Other conserved DNA damage response genes																																									0													137.0	127.0	131.0					15																	43724668		2201	4298	6499	SO:0001589	frameshift_variant	7158			U09477	CCDS10096.1, CCDS45250.1, CCDS45251.1	15q15-q21	2007-08-02	2007-08-02		ENSG00000067369	ENSG00000067369			11999	protein-coding gene	gene with protein product		605230	"""tumor protein p53-binding protein, 1"""			8016121, 9748285	Standard	NM_005657		Approved	53BP1, p202	uc001zrr.4	Q12888	OTTHUMG00000059757	ENST00000263801.3:c.3384delG	15.37:g.43724668delC	ENSP00000263801:p.Gln1128fs	Somatic		WXS	Illumina HiSeq	Phase_I	F8VY86|Q2M1Z7|Q4LE46|Q5FWZ3|Q7Z3U4	Frame_Shift_Del	DEL	ENST00000263801.3	37	CCDS10096.1																																																																																				0.468	TP53BP1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132897.3			
TTC30A	92104	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	2	178482340	178482340	+	Missense_Mutation	SNP	C	C	T			TCGA-BP-5004-01A-01D-1462-08	TCGA-BP-5004-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3d82fe4-b491-4172-86da-429cf16508de	5df4ce0c-d0cf-4b9e-8182-ee09f3a2be9c	g.chr2:178482340C>T	ENST00000355689.5	-	1	1354	c.1090G>A	c.(1090-1092)Gcc>Acc	p.A364T	AC073834.3_ENST00000357045.4_RNA	NM_152275.3	NP_689488.3	Q86WT1	TT30A_HUMAN	tetratricopeptide repeat domain 30A	364					cilium assembly (GO:0042384)|intraciliary transport (GO:0042073)	cilium (GO:0005929)|intraciliary transport particle B (GO:0030992)		p.A364T(1)		autonomic_ganglia(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(8)|prostate(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	30			OV - Ovarian serous cystadenocarcinoma(117;0.000423)|Epithelial(96;0.00373)|all cancers(119;0.0169)			GTGATCAGGGCATCTAAGAAG	0.473																																																	1	Substitution - Missense(1)	kidney(1)											125.0	130.0	128.0					2																	178482340		2203	4300	6503	SO:0001583	missense	92104			AK024008	CCDS2276.1	2q31.2	2013-01-11			ENSG00000197557	ENSG00000197557		"""Tetratricopeptide (TTC) repeat domain containing"""	25853	protein-coding gene	gene with protein product						12477932	Standard	NM_152275		Approved	FLJ13946	uc002ulo.3	Q86WT1	OTTHUMG00000132528	ENST00000355689.5:c.1090G>A	2.37:g.178482340C>T	ENSP00000347915:p.Ala364Thr	Somatic		WXS	Illumina HiSeq	Phase_I	A8K8N0|Q8IVP2	Missense_Mutation	SNP	ENST00000355689.5	37	CCDS2276.1	.	.	.	.	.	.	.	.	.	.	C	16.11	3.030564	0.54790	.	.	ENSG00000197557	ENST00000355689	T	0.32753	1.44	5.91	5.91	0.95273	.	0.000000	0.85682	D	0.000000	T	0.67487	0.2898	M	0.92507	3.315	0.80722	D	1	D	0.89917	1.0	D	0.73708	0.981	T	0.74478	-0.3652	10	0.87932	D	0	.	20.3829	0.98937	0.0:1.0:0.0:0.0	.	364	Q86WT1	TT30A_HUMAN	T	364	ENSP00000347915:A364T	ENSP00000347915:A364T	A	-	1	0	TTC30A	178190586	1.000000	0.71417	1.000000	0.80357	0.198000	0.23893	5.310000	0.65780	2.823000	0.97156	0.644000	0.83932	GCC		0.473	TTC30A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255728.2		NM_152275	
UNC119B	84747	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	12	121154504	121154504	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5004-01A-01D-1462-08	TCGA-BP-5004-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3d82fe4-b491-4172-86da-429cf16508de	5df4ce0c-d0cf-4b9e-8182-ee09f3a2be9c	g.chr12:121154504C>G	ENST00000344651.4	+	3	472	c.432C>G	c.(430-432)ttC>ttG	p.F144L		NM_001080533.1	NP_001074002.1	A6NIH7	U119B_HUMAN	unc-119 homolog B (C. elegans)	144					cilium morphogenesis (GO:0060271)|lipoprotein transport (GO:0042953)	ciliary transition zone (GO:0035869)	lipid binding (GO:0008289)	p.F144L(1)		breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(4)	9	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					GCTATCAGTTCACACCGGCAT	0.532																																																	1	Substitution - Missense(1)	kidney(1)											276.0	251.0	259.0					12																	121154504		2203	4300	6503	SO:0001583	missense	84747				CCDS31914.1	12q24	2014-06-16	2001-11-28		ENSG00000175970	ENSG00000175970			16488	protein-coding gene	gene with protein product	"""POC7 centriolar protein homolog B (Chlamydomonas)"""		"""unc119 (C.elegans) homolog B"""				Standard	NM_001080533		Approved	MGC5139, POC7B	uc001tyz.4	A6NIH7	OTTHUMG00000169201	ENST00000344651.4:c.432C>G	12.37:g.121154504C>G	ENSP00000344942:p.Phe144Leu	Somatic		WXS	Illumina HiSeq	Phase_I		Missense_Mutation	SNP	ENST00000344651.4	37	CCDS31914.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.221797	0.79464	.	.	ENSG00000175970	ENST00000344651;ENST00000537794	.	.	.	5.82	5.82	0.92795	Immunoglobulin E-set (1);	0.000000	0.85682	D	0.000000	T	0.73466	0.3590	M	0.84082	2.675	0.80722	D	1	P	0.50369	0.934	P	0.51833	0.681	T	0.75841	-0.3175	9	0.49607	T	0.09	-15.9391	13.3128	0.60390	0.0:0.9281:0.0:0.0719	.	144	A6NIH7	U119B_HUMAN	L	144	.	ENSP00000344942:F144L	F	+	3	2	UNC119B	119638887	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	2.156000	0.42310	2.752000	0.94435	0.655000	0.94253	TTC		0.532	UNC119B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402857.1		NM_001080533	
USP42	84132	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	7	6190120	6190120	+	Silent	SNP	C	C	T			TCGA-BP-5004-01A-01D-1462-08	TCGA-BP-5004-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3d82fe4-b491-4172-86da-429cf16508de	5df4ce0c-d0cf-4b9e-8182-ee09f3a2be9c	g.chr7:6190120C>T	ENST00000306177.5	+	14	2342	c.2184C>T	c.(2182-2184)ggC>ggT	p.G728G		NM_032172.2	NP_115548.1	Q9H9J4	UBP42_HUMAN	ubiquitin specific peptidase 42	728					cell differentiation (GO:0030154)|protein deubiquitination (GO:0016579)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)	p.G856G(1)|p.G728G(1)		breast(1)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(2)|lung(14)|ovary(2)|pancreas(1)|prostate(1)|skin(3)|urinary_tract(1)	35		Ovarian(82;0.0423)		UCEC - Uterine corpus endometrioid carcinoma (126;0.108)|OV - Ovarian serous cystadenocarcinoma(56;5.77e-14)		AACTGAAAGGCTCGACGGATG	0.428																																																	2	Substitution - coding silent(2)	kidney(2)											92.0	93.0	93.0					7																	6190120		1894	4115	6009	SO:0001819	synonymous_variant	84132			AK022759	CCDS47535.1	7p22.2	2005-08-08	2005-08-08		ENSG00000106346	ENSG00000106346		"""Ubiquitin-specific peptidases"""	20068	protein-coding gene	gene with protein product			"""ubiquitin specific protease 42"""			12838346	Standard	NM_032172		Approved	FLJ12697	uc011jwp.2	Q9H9J4	OTTHUMG00000151888	ENST00000306177.5:c.2184C>T	7.37:g.6190120C>T		Somatic		WXS	Illumina HiSeq	Phase_I	A2RUE3|B5MDA5|Q0VIN8|Q3C166|Q6P9B4	Silent	SNP	ENST00000306177.5	37	CCDS47535.1																																																																																				0.428	USP42-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324262.3		XM_166526	
UVRAG	7405	broad.mit.edu;hgsc.bcm.edu;ucsc.edu	37	11	75852292	75852292	+	Silent	SNP	A	A	T			TCGA-BP-5004-01A-01D-1462-08	TCGA-BP-5004-11A-01D-1462-08	A	A	A	T	A	A	Unknown	Valid	Somatic	Phase_I	WXS	454			Illumina GAIIx	e3d82fe4-b491-4172-86da-429cf16508de	5df4ce0c-d0cf-4b9e-8182-ee09f3a2be9c	g.chr11:75852292A>T	ENST00000356136.3	+	15	2176	c.1935A>T	c.(1933-1935)tcA>tcT	p.S645S	UVRAG_ENST00000532130.1_Silent_p.S273S|UVRAG_ENST00000538870.1_Silent_p.S201S|UVRAG_ENST00000531818.1_Silent_p.S273S|UVRAG_ENST00000528420.1_Silent_p.S544S|UVRAG_ENST00000533454.1_Silent_p.S273S|UVRAG_ENST00000539288.1_Silent_p.S273S	NM_003369.3	NP_003360.2	Q9P2Y5	UVRAG_HUMAN	UV radiation resistance associated	645					DNA repair (GO:0006281)|positive regulation of autophagy (GO:0010508)|SNARE complex assembly (GO:0035493)|viral entry into host cell (GO:0046718)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|late endosome (GO:0005770)|lysosome (GO:0005764)|phagocytic vesicle (GO:0045335)|protein complex (GO:0043234)		p.S645S(1)		central_nervous_system(1)|cervix(3)|endometrium(3)|kidney(1)|large_intestine(2)|lung(15)|skin(5)|urinary_tract(2)	32						GTTTCGCCTCAGGTGATCAGC	0.517																																																	1	Substitution - coding silent(1)	kidney(1)											81.0	81.0	81.0					11																	75852292		2200	4292	6492	SO:0001819	synonymous_variant	7405			X99050, AB012958	CCDS8241.1	11q13	2012-11-15	2012-11-15		ENSG00000198382	ENSG00000198382			12640	protein-coding gene	gene with protein product	"""beclin 1 binding protein"""	602493	"""UV radiation resistance associated gene"""			9169138, 16799551, 18843052	Standard	NM_003369		Approved	VPS38	uc001oxc.3	Q9P2Y5	OTTHUMG00000165319	ENST00000356136.3:c.1935A>T	11.37:g.75852292A>T		Somatic		WXS	Illumina HiSeq	Phase_I	B3KTC1|O00392	Silent	SNP	ENST00000356136.3	37	CCDS8241.1																																																																																				0.517	UVRAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383430.1		NM_003369	
ZNF492	57615	broad.mit.edu;hgsc.bcm.edu	37	19	22836216	22836216	+	Nonsense_Mutation	SNP	C	C	A			TCGA-BP-5004-01A-01D-1462-08	TCGA-BP-5004-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3d82fe4-b491-4172-86da-429cf16508de	5df4ce0c-d0cf-4b9e-8182-ee09f3a2be9c	g.chr19:22836216C>A	ENST00000456783.2	+	2	259	c.15C>A	c.(13-15)taC>taA	p.Y5*		NM_020855.2	NP_065906.1	Q9P255	ZN492_HUMAN	zinc finger protein 492	5	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.Y5*(1)		endometrium(1)|kidney(1)|large_intestine(6)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21		all_cancers(12;0.0266)|all_lung(12;0.00187)|Lung NSC(12;0.0019)|all_epithelial(12;0.00203)|Hepatocellular(1079;0.244)				TAGAGAACTACAGAAACCTGG	0.378																																																	1	Substitution - Nonsense(1)	kidney(1)											131.0	154.0	146.0					19																	22836216		2203	4300	6503	SO:0001587	stop_gained	57615			AB040906	CCDS46032.1	19p13.11	2013-01-08				ENSG00000229676		"""Zinc fingers, C2H2-type"""	23707	protein-coding gene	gene with protein product			"""zinc finger protein 115 (Y20)"""	ZNF115		10819331	Standard	NM_020855		Approved	KIAA1473	uc002nqw.3	Q9P255		ENST00000456783.2:c.15C>A	19.37:g.22836216C>A	ENSP00000413660:p.Tyr5*	Somatic		WXS	Illumina HiSeq	Phase_I	Q08EI7|Q08EI8	Nonsense_Mutation	SNP	ENST00000456783.2	37	CCDS46032.1	.	.	.	.	.	.	.	.	.	.	.	15.01	2.705385	0.48412	.	.	ENSG00000229676	ENST00000456783	.	.	.	1.23	-1.48	0.08745	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	3.9139	0.09214	0.0:0.4623:0.0:0.5377	.	.	.	.	X	5	.	ENSP00000413660:Y5X	Y	+	3	2	ZNF492	22628056	0.063000	0.20901	0.052000	0.19188	0.035000	0.12851	-0.109000	0.10840	-0.189000	0.10482	-0.459000	0.05422	TAC		0.378	ZNF492-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464581.1		NM_020855	
VHL	7428	hgsc.bcm.edu	37	3	10183833	10183833	+	Missense_Mutation	SNP	T	T	C			TCGA-BP-5004-01A-01D-1462-08	TCGA-BP-5004-11A-01D-1462-08	T	T	T	C	T	T	Unknown	Valid	Somatic	Phase_I	WXS	PGM	.		Illumina GAIIx	e3d82fe4-b491-4172-86da-429cf16508de	5df4ce0c-d0cf-4b9e-8182-ee09f3a2be9c	g.chr3:10183833T>C	ENST00000256474.2	+	1	1142	c.302T>C	c.(301-303)cTg>cCg	p.L101P	snoU13_ENST00000458986.1_RNA|VHL_ENST00000345392.2_Missense_Mutation_p.L101P	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	101	Involved in binding to CCT complex.		L -> G (in VHLD; type I; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:9829911}.|L -> R (in VHLD; type I). {ECO:0000269|PubMed:8956040}.		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.L101P(2)|p.L101_P102del(1)|p.L101del(1)|p.L101Q(1)|p.L101fs*57(1)|p.T100_G106>S(1)|p.Y98fs*27(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)		TACCCAACGCTGCCGCCTGGC	0.687		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"""	8	Substitution - Missense(3)|Deletion - Frameshift(2)|Deletion - In frame(2)|Complex - deletion inframe(1)	kidney(7)|autonomic_ganglia(1)	GRCh37	CM961421	VHL	M							11.0	13.0	12.0					3																	10183833		1636	3490	5126	SO:0001583	missense	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.302T>C	3.37:g.10183833T>C	ENSP00000256474:p.Leu101Pro	Somatic		WXS	Illumina HiSeq	Phase_I	B2RE45|Q13599|Q6PDA9	Missense_Mutation	SNP	ENST00000256474.2	37	CCDS2597.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.430030	0.83776	.	.	ENSG00000134086	ENST00000256474;ENST00000345392	D;D	0.99886	-7.52;-7.52	5.17	4.01	0.46588	von Hippel-Lindau disease tumor suppressor,  beta domain (1);von Hippel-Lindau disease tumour suppressor, beta/alpha domain (2);	0.164670	0.40908	D	0.000999	D	0.99557	0.9841	M	0.80332	2.49	0.58432	D	0.999995	B;B	0.29671	0.18;0.254	B;B	0.29440	0.063;0.102	D	0.99421	1.0933	10	0.87932	D	0	-0.7535	9.2783	0.37714	0.0:0.0862:0.0:0.9138	.	101;101	P40337-2;P40337	.;VHL_HUMAN	P	101	ENSP00000256474:L101P;ENSP00000344757:L101P	ENSP00000256474:L101P	L	+	2	0	VHL	10158833	1.000000	0.71417	0.988000	0.46212	0.923000	0.55619	5.001000	0.63946	0.814000	0.34374	0.393000	0.25936	CTG		0.687	VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1		NM_000551	
HAVCR1P1	100101266	broad.mit.edu	37	19	24346194	24346194	+	IGR	SNP	C	C	T			TCGA-BP-5004-01A-01D-1462-08	TCGA-BP-5004-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3d82fe4-b491-4172-86da-429cf16508de	5df4ce0c-d0cf-4b9e-8182-ee09f3a2be9c	g.chr19:24346194C>T								ZNF254 (33540 upstream) : None (None downstream)																							ACAGAATCTGCCAGATGTAGG	0.493																																																	0																																										SO:0001628	intergenic_variant	0																															19.37:g.24346194C>T		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP		37																																																																																				0	0.493									
LILRA6	79168	broad.mit.edu	37	19	54746128	54746128	+	Missense_Mutation	SNP	G	G	C			TCGA-BP-5004-01A-01D-1462-08	TCGA-BP-5004-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3d82fe4-b491-4172-86da-429cf16508de	5df4ce0c-d0cf-4b9e-8182-ee09f3a2be9c	g.chr19:54746128G>C	ENST00000396365.2	-	3	168	c.129C>G	c.(127-129)agC>agG	p.S43R	LILRB3_ENST00000407860.2_Missense_Mutation_p.S43R|LILRA6_ENST00000391735.3_Missense_Mutation_p.S43R|LILRA6_ENST00000419410.2_Missense_Mutation_p.S43R|LILRA6_ENST00000245621.5_Missense_Mutation_p.S43R|LILRA6_ENST00000440558.2_Missense_Mutation_p.S43R|LILRA6_ENST00000270464.5_Missense_Mutation_p.S43R	NM_024318.2	NP_077294	Q6PI73	LIRA6_HUMAN	leukocyte immunoglobulin-like receptor, subfamily A (with TM domain), member 6	43					immune system process (GO:0002376)	integral component of membrane (GO:0016021)		p.S43R(2)		central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(4)|lung(20)|ovary(3)|skin(2)|urinary_tract(2)	38	all_cancers(19;0.00723)|all_epithelial(19;0.00389)|all_lung(19;0.0175)|Lung NSC(19;0.0325)|Ovarian(34;0.19)			GBM - Glioblastoma multiforme(193;0.105)		TGGTCACGGGGCTCCCCCAGC	0.602																																																	2	Substitution - Missense(2)	kidney(2)											105.0	112.0	109.0					19																	54746128		2203	4300	6503	SO:0001583	missense	11025			AF041262	CCDS42610.1	19q13.4	2013-01-11	2005-05-17	2005-05-17	ENSG00000244482	ENSG00000244482		"""Leukocyte immunoglobulin-like receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	15495	protein-coding gene	gene with protein product			"""leukocyte immunoglobulin-like receptor, subfamily B (with TM and ITIM domains), member 6"""	LILRB6		10941842	Standard	NM_024318		Approved	ILT8, CD85b		Q6PI73	OTTHUMG00000066635	ENST00000396365.2:c.129C>G	19.37:g.54746128G>C	ENSP00000379651:p.Ser43Arg	Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP	ENST00000396365.2	37	CCDS42610.1	.	.	.	.	.	.	.	.	.	.	G	11.06	1.528820	0.27387	.	.	ENSG00000204577;ENSG00000244482;ENSG00000244482;ENSG00000244482;ENSG00000244482;ENSG00000244482;ENSG00000244482;ENSG00000244482	ENST00000407860;ENST00000440558;ENST00000270464;ENST00000419410;ENST00000391735;ENST00000421123;ENST00000396365;ENST00000245621	T;T;T;T;T;T;T	0.10099	2.91;2.91;2.91;2.91;2.91;2.91;2.91	3.4	-2.67	0.06059	Immunoglobulin-like fold (1);	1.626640	0.02971	N	0.144362	T	0.14960	0.0361	L	0.42686	1.345	0.09310	N	1	P;B;P;B;P;P;B;P;D;D	0.59357	0.862;0.067;0.528;0.146;0.931;0.836;0.087;0.935;0.985;0.985	P;B;P;B;P;B;B;P;P;P	0.56278	0.482;0.055;0.454;0.149;0.658;0.413;0.038;0.795;0.499;0.751	T	0.25328	-1.0135	10	0.23891	T	0.37	.	1.7958	0.03061	0.1134:0.1712:0.3791:0.3364	.	43;43;43;43;43;43;43;43;43;43	C9JFH3;Q6PI73-2;B5MCX0;B5ME96;Q6PI73;F8WCY4;F8WD89;D3YTC4;F8W6G6;O75022-2	.;.;.;.;LIRA6_HUMAN;.;.;.;.;.	R	43	ENSP00000384274:S43R;ENSP00000390120:S43R;ENSP00000270464:S43R;ENSP00000411227:S43R;ENSP00000375615:S43R;ENSP00000379651:S43R;ENSP00000245621:S43R	ENSP00000245621:S43R	S	-	3	2	LILRB3;LILRA6	59437940	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-3.833000	0.00355	-0.409000	0.07553	-1.207000	0.01640	AGC		0.602	LILRA6-003	NOVEL	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000313725.1		NM_024318	
PPP1R1B	84152	broad.mit.edu	37	17	37785438	37785438	+	Missense_Mutation	SNP	C	C	G			TCGA-BP-5004-01A-01D-1462-08	TCGA-BP-5004-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3d82fe4-b491-4172-86da-429cf16508de	5df4ce0c-d0cf-4b9e-8182-ee09f3a2be9c	g.chr17:37785438C>G	ENST00000254079.4	+	2	566	c.97C>G	c.(97-99)Cca>Gca	p.P33A	PPP1R1B_ENST00000394267.2_5'UTR|PPP1R1B_ENST00000394265.1_5'UTR|PPP1R1B_ENST00000580825.1_Missense_Mutation_p.P33A|PPP1R1B_ENST00000579000.1_Missense_Mutation_p.P33A	NM_032192.3	NP_115568.2	Q9UD71	PPR1B_HUMAN	protein phosphatase 1, regulatory (inhibitor) subunit 1B	33					intracellular signal transduction (GO:0035556)|negative regulation of catalytic activity (GO:0043086)|negative regulation of female receptivity (GO:0007621)|negative regulation of protein kinase activity (GO:0006469)|regulation of catalytic activity (GO:0050790)|response to amphetamine (GO:0001975)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)|visual learning (GO:0008542)	cytosol (GO:0005829)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)	protein kinase inhibitor activity (GO:0004860)|protein phosphatase inhibitor activity (GO:0004864)|protein phosphatase type 1 regulator activity (GO:0008599)	p.P33A(1)		kidney(1)|large_intestine(1)|liver(1)|lung(2)	5	Lung NSC(9;1.15e-09)|all_lung(9;6.24e-09)|Colorectal(19;0.000442)|Esophageal squamous(10;0.052)		UCEC - Uterine corpus endometrioid carcinoma (11;0.000126)|BRCA - Breast invasive adenocarcinoma(8;1.04e-44)|Lung(15;0.00193)|LUAD - Lung adenocarcinoma(14;0.0664)|LUSC - Lung squamous cell carcinoma(15;0.171)			GCGCAGGAGACCAACGCCTGC	0.642																																																	1	Substitution - Missense(1)	kidney(1)											52.0	49.0	50.0					17																	37785438		2203	4300	6503	SO:0001583	missense	84152			AI124650	CCDS11339.1, CCDS11340.1	17q12	2012-04-17	2008-07-31		ENSG00000131771	ENSG00000131771	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	9287	protein-coding gene	gene with protein product	"""dopamine and cAMP regulated phosphoprotein"""	604399				8120638	Standard	NM_032192		Approved	DARPP-32, FLJ20940	uc002hrz.3	Q9UD71	OTTHUMG00000133210	ENST00000254079.4:c.97C>G	17.37:g.37785438C>G	ENSP00000254079:p.Pro33Ala	Somatic		WXS	Illumina GAIIx	Phase_I	Q547V9|Q547W0|Q9H7G1	Missense_Mutation	SNP	ENST00000254079.4	37	CCDS11339.1	.	.	.	.	.	.	.	.	.	.	C	13.99	2.402260	0.42613	.	.	ENSG00000131771	ENST00000254079;ENST00000357165;ENST00000394271	T	0.67523	-0.27	5.41	5.41	0.78517	.	0.000000	0.64402	D	0.000001	T	0.80644	0.4662	M	0.71206	2.165	0.51233	D	0.999911	D;D;D	0.76494	0.999;0.999;0.999	D;D;D	0.87578	0.998;0.998;0.998	T	0.82526	-0.0413	10	0.87932	D	0	-20.4407	14.7042	0.69176	0.0:1.0:0.0:0.0	.	33;33;33	B3KVQ9;E7ENN5;Q9UD71	.;.;PPR1B_HUMAN	A	33	ENSP00000254079:P33A	ENSP00000254079:P33A	P	+	1	0	PPP1R1B	35038964	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	4.513000	0.60476	2.533000	0.85409	0.561000	0.74099	CCA		0.642	PPP1R1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256925.2		NM_032192	
RPL13AP20	387841	broad.mit.edu	37	12	13028751	13028751	+	IGR	SNP	G	G	C	rs199863259		TCGA-BP-5004-01A-01D-1462-08	TCGA-BP-5004-11A-01D-1462-08	G	G	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3d82fe4-b491-4172-86da-429cf16508de	5df4ce0c-d0cf-4b9e-8182-ee09f3a2be9c	g.chr12:13028751G>C								DDX47 (45836 upstream) : GPRC5A (14964 downstream)																							GGTGTTTGACGGCATCCCACC	0.612																																																	0																																										SO:0001628	intergenic_variant	387841																															12.37:g.13028751G>C		Somatic		WXS	Illumina GAIIx	Phase_I		Missense_Mutation	SNP		37																																																																																				0	0.612									
SMG1P7	100506060	broad.mit.edu	37	16	70268158	70268158	+	RNA	SNP	A	A	C			TCGA-BP-5004-01A-01D-1462-08	TCGA-BP-5004-11A-01D-1462-08	A	A	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3d82fe4-b491-4172-86da-429cf16508de	5df4ce0c-d0cf-4b9e-8182-ee09f3a2be9c	g.chr16:70268158A>C	ENST00000459379.1	-	0	0																											TTCTTCATTAAAACAGCTACT	0.333																																																	0																																												0																															16.37:g.70268158A>C		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP	ENST00000459379.1	37																																																																																					0.333	snoU13.216-201	NOVEL	basic	snoRNA	snoRNA				
LOC442028	442028	broad.mit.edu	37	2	95558330	95558330	+	RNA	SNP	C	C	T			TCGA-BP-5004-01A-01D-1462-08	TCGA-BP-5004-11A-01D-1462-08	C	C	.	.	.	.	Unknown	Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e3d82fe4-b491-4172-86da-429cf16508de	5df4ce0c-d0cf-4b9e-8182-ee09f3a2be9c	g.chr2:95558330C>T	ENST00000568768.1	-	0	476																											GGCTGCATTCCAAACAGCGGG	0.423																																																	0																																												0																															2.37:g.95558330C>T		Somatic		WXS	Illumina GAIIx	Phase_I		RNA	SNP	ENST00000568768.1	37																																																																																					0.423	AC097374.2-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000431504.1			
