#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_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_Chromosome_hg18	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_End_position_hg18	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_Start_position_hg18	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_classification	i_context	i_dataset	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_refseq_mrna_id	i_secondary_variant_classification	i_type
AFF3	3899	hgsc.bcm.edu	37	2	100623096	100623096	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1365-01	TCGA-04-1365-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-04-1365-01	TCGA-04-1365-10	g.chr2:100623096C>T	ENST00000409236.2	-	5	983	c.871G>A	c.(871-873)Gag>Aag	p.E291K	AFF3_ENST00000317233.4_Missense_Mutation_p.E291K|AFF3_ENST00000356421.2_Missense_Mutation_p.E316K|AFF3_ENST00000409579.1_Missense_Mutation_p.E316K			P51826	AFF3_HUMAN	AF4/FMR2 family, member 3	291					embryonic hindlimb morphogenesis (GO:0035116)|regulation of transcription, DNA-templated (GO:0006355)|response to tumor necrosis factor (GO:0034612)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)	p.E316K(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(3)|endometrium(9)|kidney(4)|large_intestine(20)|liver(1)|lung(28)|ovary(3)|pancreas(1)|prostate(4)|skin(5)|urinary_tract(3)	86						AGACTCACCTCCCCCTGCTTG	0.512																																																1	Substitution - Missense(1)	ovary(1)	2											55.0	59.0	58.0					2																	100623096		2203	4300	6503	99989528	SO:0001583	missense	3899			U34360	CCDS33258.1, CCDS42723.1	2q11.2-q12	2008-02-05	2005-06-27	2005-06-27	ENSG00000144218	ENSG00000144218			6473	protein-coding gene	gene with protein product		601464	"""lymphoid nuclear protein related to AF4"""	LAF4		8662235, 8555498	Standard	XM_005263945		Approved	MLLT2-like	uc002taf.3	P51826	OTTHUMG00000153011	ENST00000409236.2:c.871G>A	2.37:g.100623096C>T	ENSP00000387207:p.Glu291Lys	Somatic		Capture	SOLID	Phase_IV	99989528	B7ZM46|B9EGL9|D3DVI6|Q53RD6|Q53S47|Q53SI6|Q53TB9|Q59F27|Q8IWJ5	Missense_Mutation	SNP	ENST00000409236.2	37	CCDS42723.1	SNP	30	Baylor	.	.	.	.	.	.	.	.	.	.	C	24.5	4.538709	0.85917	.	.	ENSG00000144218	ENST00000317233;ENST00000356421;ENST00000409579;ENST00000409236;ENST00000433370;ENST00000444786;ENST00000432288	T;T;T;T	0.63580	-0.05;-0.05;-0.05;-0.05	5.46	5.46	0.80206	.	0.321611	0.29376	N	0.012325	T	0.65386	0.2686	N	0.19112	0.55	0.53688	D	0.99997	D;D;P;D;D	0.89917	1.0;1.0;0.925;1.0;1.0	D;D;P;D;D	0.91635	0.999;0.997;0.572;0.998;0.997	T	0.57335	-0.7829	10	0.07175	T	0.84	.	19.3032	0.94151	0.0:1.0:0.0:0.0	.	445;445;291;291;316	B7Z4I6;C9JXV5;A8K353;P51826;P51826-2	.;.;.;AFF3_HUMAN;.	K	291;316;316;291;291;445;316	ENSP00000317421:E291K;ENSP00000348793:E316K;ENSP00000386834:E316K;ENSP00000387207:E291K	ENSP00000317421:E291K	E	-	1	0	AFF3	99989528	1.000000	0.71417	0.955000	0.39395	0.739000	0.42172	5.849000	0.69465	2.563000	0.86464	0.655000	0.94253	GAG		0.512	AFF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328982.3	NM_002285		Missense_Mutation
AKAP6	9472	hgsc.bcm.edu	37	14	33147545	33147545	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1365-01	TCGA-04-1365-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-04-1365-01	TCGA-04-1365-10	g.chr14:33147545C>T	ENST00000280979.4	+	8	2929	c.2759C>T	c.(2758-2760)gCa>gTa	p.A920V	AKAP6_ENST00000557354.1_Missense_Mutation_p.A920V|AKAP6_ENST00000557272.1_Missense_Mutation_p.A920V	NM_004274.4	NP_004265.3	Q13023	AKAP6_HUMAN	A kinase (PRKA) anchor protein 6	920					action potential (GO:0001508)|cAMP-mediated signaling (GO:0019933)|cellular response to cAMP (GO:0071320)|cellular response to cytokine stimulus (GO:0071345)|negative regulation of cAMP biosynthetic process (GO:0030818)|positive regulation of calcineurin-NFAT signaling cascade (GO:0070886)|positive regulation of cell growth (GO:0030307)|positive regulation of cell growth involved in cardiac muscle cell development (GO:0061051)|positive regulation of delayed rectifier potassium channel activity (GO:1902261)|positive regulation of NFAT protein import into nucleus (GO:0051533)|positive regulation of potassium ion transmembrane transport (GO:1901381)|positive regulation of protein phosphatase type 2B activity (GO:0032514)|positive regulation of release of sequestered calcium ion into cytosol (GO:0051281)|positive regulation of ryanodine-sensitive calcium-release channel activity (GO:0060316)|protein targeting (GO:0006605)|regulation of membrane repolarization (GO:0060306)|regulation of protein kinase A signaling (GO:0010738)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)	calcium channel complex (GO:0034704)|caveola (GO:0005901)|cytoplasm (GO:0005737)|intercalated disc (GO:0014704)|junctional sarcoplasmic reticulum membrane (GO:0014701)|nuclear envelope (GO:0005635)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)	adenylate cyclase binding (GO:0008179)|ion channel binding (GO:0044325)|protein anchor (GO:0043495)|protein complex scaffold (GO:0032947)|protein kinase A binding (GO:0051018)|protein kinase A regulatory subunit binding (GO:0034237)	p.A920V(1)		NS(2)|breast(10)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(25)|lung(42)|ovary(5)|pancreas(2)|prostate(3)|skin(9)|urinary_tract(2)	122	Breast(36;0.0388)|Prostate(35;0.15)		LUAD - Lung adenocarcinoma(48;0.00107)|Lung(238;0.00677)|STAD - Stomach adenocarcinoma(7;0.116)	GBM - Glioblastoma multiforme(265;0.019)		TACCTGGAAGCACAAAGAGAT	0.433																																					Melanoma(49;821 1200 7288 13647 42351)											1	Substitution - Missense(1)	ovary(1)	14											120.0	105.0	110.0					14																	33147545		2203	4300	6503	32217296	SO:0001583	missense	9472			AB002309	CCDS9644.1	14q12	2008-08-11			ENSG00000151320	ENSG00000151320		"""A-kinase anchor proteins"""	376	protein-coding gene	gene with protein product	"""protein kinase A anchoring protein 6"""	604691				7721854, 9205841	Standard	NM_004274		Approved	KIAA0311, mAKAP, AKAP100, PRKA6, ADAP6	uc001wrq.3	Q13023	OTTHUMG00000140207	ENST00000280979.4:c.2759C>T	14.37:g.33147545C>T	ENSP00000280979:p.Ala920Val	Somatic		Capture	SOLID	Phase_IV	32217296	A7E242|A7E2D4|O15028	Missense_Mutation	SNP	ENST00000280979.4	37	CCDS9644.1	SNP	25	Baylor	.	.	.	.	.	.	.	.	.	.	C	18.44	3.623906	0.66901	.	.	ENSG00000151320	ENST00000280979;ENST00000557354;ENST00000557272	T;T;T	0.23552	3.13;1.9;1.91	5.3	5.3	0.74995	.	0.074599	0.56097	D	0.000035	T	0.19446	0.0467	N	0.19112	0.55	0.47183	D	0.999343	P;P	0.44690	0.841;0.841	B;B	0.38842	0.283;0.283	T	0.03706	-1.1011	10	0.72032	D	0.01	-5.0907	17.1295	0.86723	0.0:1.0:0.0:0.0	.	920;920	A7E242;Q13023	.;AKAP6_HUMAN	V	920	ENSP00000280979:A920V;ENSP00000450531:A920V;ENSP00000451247:A920V	ENSP00000280979:A920V	A	+	2	0	AKAP6	32217296	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.356000	0.66052	2.480000	0.83734	0.585000	0.79938	GCA		0.433	AKAP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276617.2	NM_004274		Missense_Mutation
AKAP8	10270	hgsc.bcm.edu	37	19	15469826	15469826	+	Missense_Mutation	SNP	A	A	C			TCGA-04-1365-01	TCGA-04-1365-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-04-1365-01	TCGA-04-1365-10	g.chr19:15469826A>C	ENST00000269701.2	-	13	1635	c.1575T>G	c.(1573-1575)agT>agG	p.S525R		NM_005858.3	NP_005849.1	O43823	AKAP8_HUMAN	A kinase (PRKA) anchor protein 8	525					mitotic chromosome condensation (GO:0007076)|mitotic nuclear division (GO:0007067)|signal transduction (GO:0007165)	condensed chromosome (GO:0000793)|female pronucleus (GO:0001939)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)	p.S525R(1)		breast(2)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)	26						TGTTCAAAACACTCTTAGCCA	0.408																																					GBM(190;1671 2163 3274 27186 30476)											1	Substitution - Missense(1)	ovary(1)	19											161.0	145.0	150.0					19																	15469826		2203	4300	6503	15330826	SO:0001583	missense	10270			Y11997	CCDS12329.1	19p13.12	2012-05-16			ENSG00000105127	ENSG00000105127		"""A-kinase anchor proteins"""	378	protein-coding gene	gene with protein product	"""A-kinase anchor protein, 95kDa"""	604692				9473338	Standard	NM_005858		Approved	AKAP95, DKFZp586B1222	uc002nav.3	O43823		ENST00000269701.2:c.1575T>G	19.37:g.15469826A>C	ENSP00000269701:p.Ser525Arg	Somatic		Capture	SOLID	Phase_IV	15330826		Missense_Mutation	SNP	ENST00000269701.2	37	CCDS12329.1	SNP	6	Baylor	.	.	.	.	.	.	.	.	.	.	A	17.08	3.298847	0.60195	.	.	ENSG00000105127	ENST00000269701	T	0.50277	0.75	5.84	-1.16	0.09678	.	0.000000	0.64402	D	0.000015	T	0.54935	0.1889	L	0.47190	1.495	0.80722	D	1	D	0.69078	0.997	D	0.68621	0.959	T	0.51694	-0.8673	10	0.87932	D	0	-25.2211	10.7936	0.46447	0.5709:0.0:0.4291:0.0	.	525	O43823	AKAP8_HUMAN	R	525	ENSP00000269701:S525R	ENSP00000269701:S525R	S	-	3	2	AKAP8	15330826	1.000000	0.71417	0.928000	0.36995	0.647000	0.38526	0.649000	0.24843	-0.670000	0.05282	-0.376000	0.06991	AGT		0.408	AKAP8-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461293.3	NM_005858		Missense_Mutation
AKAP9	10142	hgsc.bcm.edu	37	7	91652178	91652179	+	In_Frame_Ins	INS	-	-	AAC	rs111673064|rs10644111|rs397825978|rs34756483	byFrequency	TCGA-04-1365-01	TCGA-04-1365-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-04-1365-01	TCGA-04-1365-10	g.chr7:91652178_91652179insAAC	ENST00000359028.2	+	15	4264_4265	c.4039_4040insAAC	c.(4039-4041)aaa>aAACaa	p.1347_1348insQ	AKAP9_ENST00000356239.3_In_Frame_Ins_p.1335_1336insQ|AKAP9_ENST00000358100.2_In_Frame_Ins_p.1347_1348insQ			Q99996	AKAP9_HUMAN	A kinase (PRKA) anchor protein 9	1347			K -> KQ. {ECO:0000269|PubMed:10202149}.		G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|Sertoli cell development (GO:0060009)|signal transduction (GO:0007165)|spermatogenesis (GO:0007283)|synaptic transmission (GO:0007268)|transport (GO:0006810)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|pericentriolar material (GO:0000242)|voltage-gated potassium channel complex (GO:0008076)	ion channel binding (GO:0044325)|protein complex scaffold (GO:0032947)|receptor binding (GO:0005102)	p.K1335_L1336insQ(1)|p.K1347_L1348insQ(1)		NS(1)|autonomic_ganglia(2)|breast(14)|central_nervous_system(3)|cervix(1)|endometrium(13)|kidney(12)|large_intestine(35)|lung(49)|ovary(8)|prostate(6)|skin(8)|stomach(1)|urinary_tract(2)	155	all_cancers(62;2.46e-09)|all_epithelial(64;4.42e-08)|Breast(17;0.00206)|all_lung(186;0.185)|all_hematologic(106;0.215)|Lung NSC(181;0.249)		STAD - Stomach adenocarcinoma(171;6.16e-05)|Lung(22;0.123)|LUSC - Lung squamous cell carcinoma(200;0.225)			TGAAAAAACTAAACTTGAAGAA	0.312			T	BRAF	papillary thyroid									2127	0.42472	0.6657	0.3689	5008	,	,		15358	0.1825		0.3867	False		,,,				2504	0.4274						Dom	yes		7	7q21-q22	10142	A kinase (PRKA) anchor protein (yotiao) 9		E	2	Insertion - In frame(2)	ovary(2)	7							,	2670,1594		824,1022,286					,	2.2	0.0		dbSNP_119	46	3327,4927		650,2027,1450	no	coding,coding	AKAP9	NM_147185.2,NM_005751.4	,	1474,3049,1736	A1A1,A1R,RR		40.3077,37.3827,47.907	,	,		5997,6521				91490115	SO:0001652	inframe_insertion	10142			AF091711	CCDS5622.1	7q21-q22	2014-09-17	2013-09-25		ENSG00000127914	ENSG00000127914		"""A-kinase anchor proteins"", ""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	379	protein-coding gene	gene with protein product	"""A-kinase anchoring protein 450"", ""AKAP9-BRAF fusion protein"", ""AKAP120-like protein"", ""centrosome- and golgi-localized protein kinase N-associated protein"", ""protein kinase A anchoring protein 9"", ""A-kinase anchor protein, 350kDa"", ""protein phosphatase 1, regulatory subunit 45"", ""yotiao"""	604001				9482789, 10390370, 24475373	Standard	NM_147185		Approved	KIAA0803, AKAP350, AKAP450, CG-NAP, YOTIAO, HYPERION, PRKA9, MU-RMS-40.16A, PPP1R45, LQT11	uc003ulg.3	Q99996	OTTHUMG00000131127	ENST00000359028.2:c.4040_4042dupAAC	7.37:g.91652179_91652181dupAAC	ENSP00000351922:p.Lys1347_Leu1348insGln	Somatic		Capture	SOLID	Phase_IV	91490114	A4D1F0|A4D1F2|A4D1F4|O14869|O43355|O94895|Q75N20|Q9UQH3|Q9UQQ4|Q9Y6B8|Q9Y6Y2	In_Frame_Ins	INS	ENST00000359028.2	37		INS	13	Baylor																																																																																				0.312	AKAP9-202	KNOWN	basic	protein_coding	protein_coding		NM_005751		In_Frame_Ins
ASXL3	80816	hgsc.bcm.edu	37	18	31325799	31325800	+	Frame_Shift_Ins	INS	-	-	G			TCGA-04-1365-01	TCGA-04-1365-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-04-1365-01	TCGA-04-1365-10	g.chr18:31325799_31325800insG	ENST00000269197.5	+	12	5987_5988	c.5987_5988insG	c.(5986-5991)atgaaafs	p.K1997fs		NM_030632.1	NP_085135.1	Q9C0F0	ASXL3_HUMAN	additional sex combs like transcriptional regulator 3	1997					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.K1997fs*4(1)		breast(3)|endometrium(3)|kidney(3)|large_intestine(6)|lung(22)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	43						AATATGCCCATGAAAGAAGGTG	0.545																																																1	Insertion - Frameshift(1)	ovary(1)	18																																								29579798	SO:0001589	frameshift_variant	80816			AB051500	CCDS45847.1	18q11	2014-06-17	2014-06-17	2007-02-01		ENSG00000141431			29357	protein-coding gene	gene with protein product		615115	"""KIAA1713"", ""additional sex combs like 3 (Drosophila)"""	KIAA1713		11214970	Standard	NM_030632		Approved		uc010dmg.1	Q9C0F0		ENST00000269197.5:c.5988dupG	18.37:g.31325800_31325800dupG	ENSP00000269197:p.Lys1997fs	Somatic		Capture	SOLID	Phase_IV	29579797	Q6ZMX6|Q96MU3|Q9UFC5	Frame_Shift_Ins	INS	ENST00000269197.5	37	CCDS45847.1	INS	51	Baylor																																																																																				0.545	ASXL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000441865.2			Frame_Shift_Ins
BTN2A1	11120	hgsc.bcm.edu	37	6	26463506	26463507	+	Frame_Shift_Del	DEL	CC	CC	-			TCGA-04-1365-01	TCGA-04-1365-10	CC	CC	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-04-1365-01	TCGA-04-1365-10	g.chr6:26463506_26463507delCC	ENST00000312541.5	+	4	713_714	c.465_466delCC	c.(463-468)ggccatfs	p.H156fs	BTN2A1_ENST00000541522.1_Frame_Shift_Del_p.H95fs|BTN2A1_ENST00000429381.1_Frame_Shift_Del_p.H156fs|BTN2A1_ENST00000469185.1_Frame_Shift_Del_p.H156fs	NM_007049.3|NM_078476.2	NP_008980.1|NP_510961.1	Q7KYR7	BT2A1_HUMAN	butyrophilin, subfamily 2, member A1	156					lipid metabolic process (GO:0006629)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)		p.H156fs*1(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)|skin(3)|urinary_tract(3)	27						CAATGAGGGGCCATGAAGACGG	0.564																																																1	Deletion - Frameshift(1)	ovary(1)	6																																								26571486	SO:0001589	frameshift_variant	11120			U90543	CCDS4613.1, CCDS47390.1, CCDS56404.1, CCDS56405.1	6p22.1	2014-01-14			ENSG00000112763	ENSG00000112763		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1136	protein-coding gene	gene with protein product		613590				9382921, 9149941	Standard	NM_007049		Approved	BT2.1, BTF1, BTN2.1	uc003nib.2	Q7KYR7	OTTHUMG00000014457	ENST00000312541.5:c.465_466delCC	6.37:g.26463506_26463507delCC	ENSP00000312158:p.His156fs	Somatic		Capture	SOLID	Phase_IV	26571485	B4DLP9|E9PGR4|O00475|P78408|Q59EN4|Q7KYQ7|Q7Z386|Q96AV7|Q9NU62	Frame_Shift_Del	DEL	ENST00000312541.5	37	CCDS4613.1	DEL	26	Baylor																																																																																				0.564	BTN2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040122.2	NM_007049		Frame_Shift_Del
BAI3	577	hgsc.bcm.edu	37	6	69703788	69703788	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1365-01	TCGA-04-1365-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-04-1365-01	TCGA-04-1365-10	g.chr6:69703788G>T	ENST00000370598.1	+	11	2684	c.1863G>T	c.(1861-1863)gaG>gaT	p.E621D		NM_001704.2	NP_001695	O60242	BAI3_HUMAN	brain-specific angiogenesis inhibitor 3	621					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.E621D(1)		NS(2)|breast(4)|central_nervous_system(5)|endometrium(5)|kidney(2)|large_intestine(28)|liver(1)|lung(111)|ovary(10)|pancreas(4)|prostate(7)|skin(22)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(4)	210		all_lung(197;0.212)				TGTCTGTGGAGATCCTGAGAA	0.458																																																1	Substitution - Missense(1)	ovary(1)	6											128.0	130.0	129.0					6																	69703788		2203	4300	6503	69760509	SO:0001583	missense	577			AB005299	CCDS4968.1	6q12	2014-08-08			ENSG00000135298	ENSG00000135298		"""-"", ""GPCR / Class B : Orphans"""	945	protein-coding gene	gene with protein product		602684				9533023	Standard	NM_001704		Approved	KIAA0550	uc003pev.4	O60242	OTTHUMG00000014982	ENST00000370598.1:c.1863G>T	6.37:g.69703788G>T	ENSP00000359630:p.Glu621Asp	Somatic		Capture	SOLID	Phase_IV	69760509	B7Z1K0|O60297|Q2NKN6|Q5VY37|Q9BX54	Missense_Mutation	SNP	ENST00000370598.1	37	CCDS4968.1	SNP	33	Baylor	.	.	.	.	.	.	.	.	.	.	G	9.606	1.129924	0.21041	.	.	ENSG00000135298	ENST00000370598	T	0.10763	2.84	6.05	3.7	0.42460	Domain of unknown function DUF3497 (1);	0.259729	0.36815	N	0.002394	T	0.01730	0.0055	N	0.20530	0.585	0.80722	D	1	P	0.36199	0.543	B	0.34991	0.193	T	0.22591	-1.0212	10	0.02654	T	1	.	9.8341	0.40958	0.8601:0.0:0.1399:0.0	.	621	O60242	BAI3_HUMAN	D	621	ENSP00000359630:E621D	ENSP00000359630:E621D	E	+	3	2	BAI3	69760509	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	5.202000	0.65169	0.545000	0.28902	-0.312000	0.09012	GAG		0.458	BAI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041120.1			Missense_Mutation
C20orf85	128602	hgsc.bcm.edu	37	20	56735753	56735753	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1365-01	TCGA-04-1365-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-04-1365-01	TCGA-04-1365-10	g.chr20:56735753G>T	ENST00000371168.3	+	4	350	c.289G>T	c.(289-291)Ggc>Tgc	p.G97C		NM_178456.2	NP_848551.1	Q9H1P6	CT085_HUMAN	chromosome 20 open reading frame 85	97								p.G97C(1)		kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)|urinary_tract(1)	13	all_epithelial(3;5.99e-14)|Lung NSC(12;0.000152)|all_lung(29;0.000518)|Melanoma(10;0.118)		BRCA - Breast invasive adenocarcinoma(13;5.53e-12)|Epithelial(14;7.42e-08)|all cancers(14;7.19e-07)			GACCACCCAGGGCTTCATCGG	0.572																																																1	Substitution - Missense(1)	ovary(1)	20											45.0	40.0	41.0					20																	56735753		2203	4300	6503	56169159	SO:0001583	missense	128602			AL354776	CCDS13465.1	20q13.32	2012-10-29			ENSG00000124237	ENSG00000124237			16216	protein-coding gene	gene with protein product	"""Low in Lung Cancer 1"""						Standard	NM_178456		Approved	bA196N14.1, LLC1	uc002xyv.3	Q9H1P6	OTTHUMG00000032836	ENST00000371168.3:c.289G>T	20.37:g.56735753G>T	ENSP00000360210:p.Gly97Cys	Somatic		Capture	SOLID	Phase_IV	56169159		Missense_Mutation	SNP	ENST00000371168.3	37	CCDS13465.1	SNP	43	Baylor	.	.	.	.	.	.	.	.	.	.	G	21.3	4.122784	0.77436	.	.	ENSG00000124237	ENST00000371168	T	0.29397	1.57	5.13	5.13	0.70059	.	0.000000	0.64402	D	0.000001	T	0.59128	0.2171	M	0.82056	2.57	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	T	0.64364	-0.6425	10	0.87932	D	0	-15.6679	16.7327	0.85439	0.0:0.0:1.0:0.0	.	97	Q9H1P6	CT085_HUMAN	C	97	ENSP00000360210:G97C	ENSP00000360210:G97C	G	+	1	0	C20orf85	56169159	1.000000	0.71417	1.000000	0.80357	0.843000	0.47879	4.411000	0.59781	2.561000	0.86390	0.561000	0.74099	GGC		0.572	C20orf85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079866.2	NM_178456		Missense_Mutation
CHRNA7	1139	hgsc.bcm.edu	37	15	32450704	32450704	+	Silent	SNP	G	G	A	rs201822909		TCGA-04-1365-01	TCGA-04-1365-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-04-1365-01	TCGA-04-1365-10	g.chr15:32450704G>A	ENST00000306901.3	+	7	787	c.690G>A	c.(688-690)acG>acA	p.T230T	CHRNA7_ENST00000454250.3_Silent_p.T259T|CHRNA7_ENST00000455693.2_Silent_p.T49T	NM_000746.5	NP_000737.1	P36544	ACHA7_HUMAN	cholinergic receptor, nicotinic, alpha 7 (neuronal)	230					activation of MAPK activity (GO:0000187)|associative learning (GO:0008306)|B cell activation (GO:0042113)|behavioral response to ethanol (GO:0048149)|behavioral response to nicotine (GO:0035095)|calcium ion transport (GO:0006816)|cation transmembrane transport (GO:0098655)|cellular calcium ion homeostasis (GO:0006874)|cognition (GO:0050890)|dopamine biosynthetic process (GO:0042416)|endocytosis (GO:0006897)|generation of ovulation cycle rhythm (GO:0060112)|ion transmembrane transport (GO:0034220)|ion transport (GO:0006811)|memory (GO:0007613)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interleukin-1 beta production (GO:0032691)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of tumor necrosis factor production (GO:0032720)|neuronal action potential (GO:0019228)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of heart rate involved in baroreceptor response to decreased systemic arterial blood pressure (GO:0001988)|regulation of norepinephrine secretion (GO:0014061)|regulation of synaptic transmission, dopaminergic (GO:0032225)|response to food (GO:0032094)|response to hypoxia (GO:0001666)|response to nicotine (GO:0035094)|signal transduction (GO:0007165)|sperm motility (GO:0030317)|synaptic transmission (GO:0007268)|synaptic transmission, cholinergic (GO:0007271)|T cell activation (GO:0042110)	acetylcholine-gated channel complex (GO:0005892)|apical plasma membrane (GO:0016324)|asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|external side of plasma membrane (GO:0009897)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	acetylcholine binding (GO:0042166)|acetylcholine receptor activity (GO:0015464)|acetylcholine-activated cation-selective channel activity (GO:0004889)|acetylcholine-gated cation channel activity (GO:0022848)|beta-amyloid binding (GO:0001540)|chloride channel regulator activity (GO:0017081)|drug binding (GO:0008144)|protein homodimerization activity (GO:0042803)|toxic substance binding (GO:0015643)	p.T230T(1)|p.T140T(1)		endometrium(3)|large_intestine(1)|lung(6)|ovary(2)	12		all_lung(180;6.35e-11)		all cancers(64;3.34e-21)|Epithelial(43;2.64e-15)|GBM - Glioblastoma multiforme(186;5.17e-06)|BRCA - Breast invasive adenocarcinoma(123;0.00112)|Lung(196;0.227)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Dextromethorphan(DB00514)|Galantamine(DB00674)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Nicotine(DB00184)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)|Varenicline(DB01273)	GCCGCAGGACGCTCTACTATG	0.582																																					Esophageal Squamous(193;529 2900 40232 43193)											2	Substitution - coding silent(2)	ovary(2)	15											119.0	100.0	107.0					15																	32450704		2200	4297	6497	30237996	SO:0001819	synonymous_variant	1139			Z23141	CCDS10027.1, CCDS53924.1	15q13.3	2012-02-11	2012-02-07		ENSG00000175344	ENSG00000175344		"""Cholinergic receptors"", ""Ligand-gated ion channels / Acetylcholine receptors, nicotinic"""	1960	protein-coding gene	gene with protein product	"""acetylcholine receptor, nicotinic, alpha 7 (neuronal)"""	118511	"""cholinergic receptor, nicotinic, alpha polypeptide 7"""			8188270	Standard	NM_001190455		Approved		uc021sic.2	P36544	OTTHUMG00000129285	ENST00000306901.3:c.690G>A	15.37:g.32450704G>A		Somatic		Capture	SOLID	Phase_IV	30237996	A8K7Q4|B4DFS0|Q15826|Q8IUZ4|Q96RH2|Q99555|Q9BXH0	Silent	SNP	ENST00000306901.3	37	CCDS10027.1	SNP	38	Baylor																																																																																				0.582	CHRNA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000251410.2			Silent
COQ2	27235	hgsc.bcm.edu	37	4	84188772	84188772	+	Silent	SNP	G	G	A			TCGA-04-1365-01	TCGA-04-1365-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-04-1365-01	TCGA-04-1365-10	g.chr4:84188772G>A	ENST00000311469.4	-	6	1067	c.1068C>T	c.(1066-1068)gcC>gcT	p.A356A	COQ2_ENST00000311461.7_Silent_p.A306A|COQ2_ENST00000439031.2_Silent_p.A319A	NM_015697.7	NP_056512.5	Q96H96	COQ2_HUMAN	coenzyme Q2 4-hydroxybenzoate polyprenyltransferase	306					cell death (GO:0008219)|glycerol metabolic process (GO:0006071)|isoprenoid biosynthetic process (GO:0008299)|small molecule metabolic process (GO:0044281)|ubiquinone biosynthetic process (GO:0006744)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	4-hydroxybenzoate decaprenyltransferase activity (GO:0002083)|4-hydroxybenzoate nonaprenyltransferase activity (GO:0047293)	p.A356A(1)		central_nervous_system(1)|endometrium(1)|large_intestine(3)|ovary(1)|skin(1)|stomach(1)	8		Hepatocellular(203;0.114)				CAGCACCCAGGGCAGCGTAGT	0.468																																																1	Substitution - coding silent(1)	ovary(1)	4											34.0	36.0	35.0					4																	84188772		1994	4160	6154	84407796	SO:0001819	synonymous_variant	27235				CCDS47090.1, CCDS47090.2	4q21.23	2013-05-23	2013-05-23				2.5.1.39		25223	protein-coding gene	gene with protein product	"""4-hydroxybenzoate polyprenyltransferase"""	609825	"""coenzyme Q2 homolog, prenyltransferase (yeast)"""			15153069, 17332895	Standard	NM_015697		Approved	CL640, FLJ26072	uc003hog.3	Q96H96		ENST00000311469.4:c.1068C>T	4.37:g.84188772G>A		Somatic		Capture	SOLID	Phase_IV	84407796	O95331|Q1JQ78|Q684R2	Silent	SNP	ENST00000311469.4	37	CCDS47090.2	SNP	43	Baylor																																																																																				0.468	COQ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363027.3	NM_015697		Silent
COX10	1352	hgsc.bcm.edu	37	17	13972951	13972952	+	Frame_Shift_Del	DEL	CA	CA	-			TCGA-04-1365-01	TCGA-04-1365-10	CA	CA	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-04-1365-01	TCGA-04-1365-10	g.chr17:13972951_13972952delCA	ENST00000261643.3	+	1	106_107	c.29_30delCA	c.(28-30)tcafs	p.S10fs	COX10_ENST00000429152.2_Frame_Shift_Del_p.S10fs|COX10-AS1_ENST00000449363.1_RNA|COX10-AS1_ENST00000602539.1_RNA|COX10_ENST00000536205.1_5'UTR|COX10-AS1_ENST00000602743.1_RNA|COX10_ENST00000537334.1_5'UTR	NM_001303.3	NP_001294.2	Q12887	COX10_HUMAN	cytochrome c oxidase assembly homolog 10 (yeast)	10					aerobic respiration (GO:0009060)|cellular respiration (GO:0045333)|heme a biosynthetic process (GO:0006784)|heme biosynthetic process (GO:0006783)|heme O biosynthetic process (GO:0048034)|hydrogen ion transmembrane transport (GO:1902600)|mitochondrial electron transport, cytochrome c to oxygen (GO:0006123)|mitochondrial fission (GO:0000266)|porphyrin-containing compound metabolic process (GO:0006778)|respiratory chain complex IV assembly (GO:0008535)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)	farnesyltranstransferase activity (GO:0004311)|protoheme IX farnesyltransferase activity (GO:0008495)	p.R11fs*14(1)		cervix(1)|endometrium(3)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	14		all_lung(20;0.06)|Lung SC(565;0.168)		UCEC - Uterine corpus endometrioid carcinoma (92;0.106)		ACTCTCTCCTCACGCCTCCTGA	0.624																																																1	Deletion - Frameshift(1)	ovary(1)	17																																								13913677	SO:0001589	frameshift_variant	1352			U09466	CCDS11166.1	17p12	2013-05-24	2012-10-15		ENSG00000006695	ENSG00000006695		"""Mitochondrial respiratory chain complex assembly factors"""	2260	protein-coding gene	gene with protein product	"""heme A: farnesyltransferase"", ""protoheme IX farnesyltransferase, mitochondrial"", ""heme O synthase"""	602125	"""COX10 (yeast) homolog, cytochrome c oxidase assembly protein (heme A: farnesyltransferase)"", ""COX10 homolog, cytochrome c oxidase assembly protein, heme A: farnesyltransferase (yeast)"""			9177788, 12928484	Standard	NM_001303		Approved		uc002gof.4	Q12887	OTTHUMG00000058814	ENST00000261643.3:c.29_30delCA	17.37:g.13972951_13972952delCA	ENSP00000261643:p.Ser10fs	Somatic		Capture	SOLID	Phase_IV	13913676	B2R6U5|B4DJ50|O15334|Q969F7	Frame_Shift_Del	DEL	ENST00000261643.3	37	CCDS11166.1	DEL	29	Baylor																																																																																				0.624	COX10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130003.1	NM_001303		Frame_Shift_Del
CPA5	93979	hgsc.bcm.edu	37	7	130002800	130002800	+	Missense_Mutation	SNP	A	A	T			TCGA-04-1365-01	TCGA-04-1365-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-04-1365-01	TCGA-04-1365-10	g.chr7:130002800A>T	ENST00000485477.1	+	8	1841	c.712A>T	c.(712-714)Aca>Tca	p.T238S	CPA5_ENST00000461828.1_Missense_Mutation_p.T238S|CPA5_ENST00000393213.3_Missense_Mutation_p.T238S|CPA5_ENST00000474905.1_Missense_Mutation_p.T238S|CPA5_ENST00000431780.2_Missense_Mutation_p.T238S|CPA5_ENST00000355388.3_Missense_Mutation_p.T238S|CPA5_ENST00000466363.2_Missense_Mutation_p.T238S			Q8WXQ8	CBPA5_HUMAN	carboxypeptidase A5	238						extracellular region (GO:0005576)	metallocarboxypeptidase activity (GO:0004181)|zinc ion binding (GO:0008270)			NS(2)|breast(2)|endometrium(2)|large_intestine(7)|lung(4)|ovary(3)|pancreas(1)|skin(2)	23	Melanoma(18;0.0435)					AGAGCTCGTCACAAACCCTGA	0.507																																																0			7											81.0	73.0	75.0					7																	130002800		2203	4300	6503	129790036	SO:0001583	missense	93979			AF384667	CCDS5819.1, CCDS47713.1	7q32	2008-07-18			ENSG00000158525	ENSG00000158525			15722	protein-coding gene	gene with protein product		609561				11836249	Standard	NM_080385		Approved		uc003vps.2	Q8WXQ8	OTTHUMG00000157824	ENST00000485477.1:c.712A>T	7.37:g.130002800A>T	ENSP00000420237:p.Thr238Ser	Somatic		Capture	SOLID	Phase_IV	129790036	G3V0G8|Q6ZNI6|Q86SE2|Q86XM3|Q8NA08	Missense_Mutation	SNP	ENST00000485477.1	37	CCDS5819.1	SNP	6	Baylor	.	.	.	.	.	.	.	.	.	.	A	10.64	1.406818	0.25378	.	.	ENSG00000158525	ENST00000355388;ENST00000461828;ENST00000466363;ENST00000485477;ENST00000431780;ENST00000474905;ENST00000393213	T;T;T;T;T;T;T	0.10763	2.84;2.84;2.84;2.84;2.84;2.84;2.84	5.63	1.82	0.25136	Peptidase M14, carboxypeptidase A (2);	0.294390	0.29631	N	0.011608	T	0.09862	0.0242	L	0.47190	1.495	0.26765	N	0.969913	P;B	0.34864	0.473;0.253	B;B	0.37943	0.251;0.261	T	0.19451	-1.0305	9	.	.	.	.	6.3564	0.21404	0.7097:0.0:0.0712:0.2191	.	238;238	G3V0G8;Q8WXQ8	.;CBPA5_HUMAN	S	238	ENSP00000347549:T238S;ENSP00000418183:T238S;ENSP00000419025:T238S;ENSP00000420237:T238S;ENSP00000393045:T238S;ENSP00000417314:T238S;ENSP00000376907:T238S	.	T	+	1	0	CPA5	129790036	0.978000	0.34361	0.992000	0.48379	0.970000	0.65996	1.584000	0.36589	0.056000	0.16144	0.533000	0.62120	ACA		0.507	CPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349712.1	NM_001127441		Missense_Mutation
CSMD1	64478	hgsc.bcm.edu	37	8	3263551	3263551	+	Missense_Mutation	SNP	T	T	A			TCGA-04-1365-01	TCGA-04-1365-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-04-1365-01	TCGA-04-1365-10	g.chr8:3263551T>A	ENST00000520002.1	-	16	2822	c.2267A>T	c.(2266-2268)gAa>gTa	p.E756V	CSMD1_ENST00000602557.1_Missense_Mutation_p.E756V|CSMD1_ENST00000537824.1_Missense_Mutation_p.E755V|CSMD1_ENST00000400186.3_Missense_Mutation_p.E756V|CSMD1_ENST00000602723.1_Missense_Mutation_p.E756V|CSMD1_ENST00000542608.1_Missense_Mutation_p.E755V|CSMD1_ENST00000539096.1_Missense_Mutation_p.E755V			Q96PZ7	CSMD1_HUMAN	CUB and Sushi multiple domains 1	756	Sushi 4. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)		p.E484V(1)		breast(20)|large_intestine(5)	25		all_cancers(1;5.7e-41)|all_epithelial(1;2.54e-36)|Lung NSC(1;7.54e-11)|all_lung(1;3.2e-10)|Hepatocellular(1;3.78e-05)|Breast(1;0.000196)|Myeloproliferative disorder(4;0.000374)|Esophageal squamous(1;0.0157)|Ovarian(12;0.091)|Renal(68;0.144)|Colorectal(14;0.234)		all cancers(1;5.03e-41)|Epithelial(1;4.78e-31)|Lung(1;1.14e-14)|LUSC - Lung squamous cell carcinoma(1;2.34e-14)|GBM - Glioblastoma multiforme(1;4.49e-10)|Colorectal(4;1.18e-07)|OV - Ovarian serous cystadenocarcinoma(1;3.2e-07)|BRCA - Breast invasive adenocarcinoma(1;6.17e-07)|COAD - Colon adenocarcinoma(4;0.000539)|READ - Rectum adenocarcinoma(4;0.00896)|Kidney(5;0.00957)|KIRC - Kidney renal clear cell carcinoma(5;0.0689)		GACTGCACCTTCACAGCGGGG	0.542																																																1	Substitution - Missense(1)	ovary(1)	8											46.0	48.0	47.0					8																	3263551		2001	4173	6174	3250958	SO:0001583	missense	64478					8p23.2	2012-04-17			ENSG00000183117	ENSG00000183117		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	14026	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 24"""	608397					Standard	NM_033225		Approved	KIAA1890, PPP1R24	uc022aqr.1	Q96PZ7	OTTHUMG00000163605	ENST00000520002.1:c.2267A>T	8.37:g.3263551T>A	ENSP00000430733:p.Glu756Val	Somatic		Capture	SOLID	Phase_IV	3250958	Q0H0J5|Q96QU9|Q96RM4	Missense_Mutation	SNP	ENST00000520002.1	37		SNP	62	Baylor	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	23.8|23.8	4.457771|4.457771	0.84317|0.84317	.|.	.|.	ENSG00000183117|ENSG00000183117	ENST00000400186;ENST00000520002;ENST00000318252;ENST00000537824;ENST00000542608;ENST00000539096|ENST00000335551	T;T;T;T;T|.	0.24350|.	1.86;1.86;1.86;1.86;1.86|.	5.36|5.36	5.36|5.36	0.76844|0.76844	Complement control module (2);Sushi/SCR/CCP (1);|.	0.064521|.	0.64402|.	D|.	0.000012|.	T|.	0.62829|.	0.2460|.	L|L	0.48935|0.48935	1.535|1.535	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	0.959;1.0|.	D;D|.	0.87578|.	0.909;0.998|.	T|.	0.60490|.	-0.7253|.	10|.	0.36615|.	T|.	0.2|.	.|.	15.3548|15.3548	0.74418|0.74418	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	756;756|.	E5RIG2;Q96PZ7|.	.;CSMD1_HUMAN|.	V|C	756;756;618;755;755;755|235	ENSP00000383047:E756V;ENSP00000430733:E756V;ENSP00000441462:E755V;ENSP00000446243:E755V;ENSP00000441675:E755V|.	ENSP00000320445:E618V|.	E|X	-|-	2|3	0|0	CSMD1|CSMD1	3250958|3250958	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.825000|0.825000	0.46686|0.46686	7.492000|7.492000	0.81482|0.81482	2.011000|2.011000	0.59026|0.59026	0.482000|0.482000	0.46254|0.46254	GAA|TGA		0.542	CSMD1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000374500.2	NM_033225		Missense_Mutation
DMD	1756	hgsc.bcm.edu	37	X	31140012	31140012	+	Missense_Mutation	SNP	C	C	A	rs372284841		TCGA-04-1365-01	TCGA-04-1365-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-04-1365-01	TCGA-04-1365-10	g.chrX:31140012C>A	ENST00000474231.1	-	35	4710	c.3670G>T	c.(3670-3672)Gat>Tat	p.D1224Y	DMD_ENST00000343523.2_Missense_Mutation_p.D1114Y|DMD_ENST00000541735.1_3'UTR|DMD_ENST00000378707.3_3'UTR|DMD_ENST00000359836.1_Missense_Mutation_p.D1211Y|DMD_ENST00000378723.3_Missense_Mutation_p.D616Y|DMD_ENST00000378680.2_Missense_Mutation_p.D506Y|DMD_ENST00000378702.4_3'UTR|DMD_ENST00000378677.2_3'UTR|DMD_ENST00000361471.4_Missense_Mutation_p.D603Y|DMD_ENST00000357033.4_3'UTR	NM_004021.2	NP_004012	P11532	DMD_HUMAN	dystrophin	0					cardiac muscle cell action potential (GO:0086001)|cardiac muscle contraction (GO:0060048)|cellular protein complex assembly (GO:0043623)|cellular protein localization (GO:0034613)|extracellular matrix organization (GO:0030198)|motile cilium assembly (GO:0044458)|muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|peptide biosynthetic process (GO:0043043)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of cellular response to growth factor stimulus (GO:0090287)|regulation of heart rate (GO:0002027)|regulation of release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0010880)|regulation of ryanodine-sensitive calcium-release channel activity (GO:0060314)|regulation of skeletal muscle contraction (GO:0014819)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|regulation of voltage-gated calcium channel activity (GO:1901385)	cell junction (GO:0030054)|cell surface (GO:0009986)|costamere (GO:0043034)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dystrophin-associated glycoprotein complex (GO:0016010)|filopodium (GO:0030175)|filopodium membrane (GO:0031527)|membrane raft (GO:0045121)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|protein complex (GO:0043234)|sarcolemma (GO:0042383)|syntrophin complex (GO:0016013)	actin binding (GO:0003779)|calcium ion binding (GO:0005509)|dystroglycan binding (GO:0002162)|myosin binding (GO:0017022)|nitric-oxide synthase binding (GO:0050998)|structural constituent of cytoskeleton (GO:0005200)|structural constituent of muscle (GO:0008307)|vinculin binding (GO:0017166)|zinc ion binding (GO:0008270)			NS(2)|breast(3)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(17)|liver(1)|lung(25)|ovary(3)|pancreas(3)|prostate(2)|skin(1)|urinary_tract(2)	77		all_cancers(2;1.22e-16)|Acute lymphoblastic leukemia(2;4.65e-06)|all_hematologic(2;0.00108)|all_epithelial(3;0.00626)|all_neural(2;0.0189)|all_lung(315;0.182)|Glioma(3;0.203)				CTGCCCAAATCATCTGCCATG	0.398																																																0			X											150.0	126.0	134.0					X																	31140012		2202	4300	6502	31049933	SO:0001583	missense	1756			AF047505	CCDS14231.1, CCDS14232.1, CCDS14233.1, CCDS14234.1, CCDS48091.1, CCDS55394.1, CCDS55395.1, CCDS75965.1	Xp21.2	2014-09-17	2008-08-01		ENSG00000198947	ENSG00000198947			2928	protein-coding gene	gene with protein product	"""muscular dystrophy, Duchenne and Becker types"""	300377	"""dystrophin (muscular dystrophy, Duchenne and Becker types), includes DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272"", ""mental retardation, X-linked 85"""	MRX85		3282674, 3607877, 23900271	Standard	NM_004019		Approved	BMD, DXS142, DXS164, DXS206, DXS230, DXS239, DXS268, DXS269, DXS270, DXS272	uc004dda.1	P11532	OTTHUMG00000021336	ENST00000474231.1:c.3670G>T	X.37:g.31140012C>A	ENSP00000417123:p.Asp1224Tyr	Somatic		Capture	SOLID	Phase_IV	31049933	E9PDN1|Q02295|Q14169|Q14170|Q5JYU0|Q6NSJ9|Q7KZ48|Q8N754|Q9UCW3|Q9UCW4	Missense_Mutation	SNP	ENST00000474231.1	37		SNP	29	Baylor	.	.	.	.	.	.	.	.	.	.	C	16.68	3.191218	0.58017	.	.	ENSG00000198947	ENST00000378723;ENST00000358062;ENST00000359836;ENST00000343523;ENST00000474231;ENST00000361471;ENST00000378680	T;T;T;T;T;T;T	0.24723	2.06;3.75;3.67;3.41;3.73;2.03;1.84	5.3	5.3	0.74995	.	.	.	.	.	T	0.46328	0.1387	L	0.52573	1.65	0.80722	D	1	D;D;D;D;D;D	0.89917	0.971;1.0;0.995;0.995;0.983;0.971	P;D;P;P;P;P	0.70935	0.667;0.971;0.908;0.908;0.821;0.667	T	0.31475	-0.9942	9	0.49607	T	0.09	.	18.1176	0.89561	0.0:1.0:0.0:0.0	.	506;1211;1224;1114;603;616	B4DSV7;F8VX32;E7ESB2;E7EQR9;P11532-5;Q8N754	.;.;.;.;.;.	Y	616;1367;1211;1114;1224;603;506	ENSP00000367997:D616Y;ENSP00000350765:D1367Y;ENSP00000352894:D1211Y;ENSP00000340057:D1114Y;ENSP00000417123:D1224Y;ENSP00000354464:D603Y;ENSP00000367951:D506Y	ENSP00000340057:D1114Y	D	-	1	0	DMD	31049933	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.281000	0.65609	2.471000	0.83476	0.523000	0.50628	GAT		0.398	DMD-016	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000356267.1	NM_004006		Missense_Mutation
DOCK11	139818	hgsc.bcm.edu	37	X	117731481	117731497	+	Frame_Shift_Del	DEL	GCTACTTGAATCTGAAT	GCTACTTGAATCTGAAT	-			TCGA-04-1365-01	TCGA-04-1365-10	GCTACTTGAATCTGAAT	GCTACTTGAATCTGAAT	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-04-1365-01	TCGA-04-1365-10	g.chrX:117731481_117731497delGCTACTTGAATCTGAAT	ENST00000276202.7	+	21	2414_2430	c.2351_2367delGCTACTTGAATCTGAAT	c.(2350-2367)ggctacttgaatctgaatfs	p.GYLNLN784fs	DOCK11_ENST00000276204.6_Frame_Shift_Del_p.GYLNLN784fs	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	784	DHR-1.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)	p.Y785fs*8(1)|p.L788M(1)		breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						CTTCCCCCAGGCTACTTGAATCTGAATGATGCAGAAT	0.406																																																2	Substitution - Missense(1)|Deletion - Frameshift(1)	ovary(1)|lung(1)	X																																								117615525	SO:0001589	frameshift_variant	139818			AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.2351_2367delGCTACTTGAATCTGAAT	X.37:g.117731481_117731497delGCTACTTGAATCTGAAT	ENSP00000276202:p.Gly784fs	Somatic		Capture	SOLID	Phase_IV	117615509	A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Frame_Shift_Del	DEL	ENST00000276202.7	37	CCDS35373.1	DEL	42	Baylor																																																																																				0.406	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658		Frame_Shift_Del
EGFR	1956	hgsc.bcm.edu	37	7	55224296	55224296	+	Silent	SNP	C	C	T			TCGA-04-1365-01	TCGA-04-1365-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-04-1365-01	TCGA-04-1365-10	g.chr7:55224296C>T	ENST00000275493.2	+	9	1254	c.1077C>T	c.(1075-1077)ttC>ttT	p.F359F	EGFR_ENST00000420316.2_Silent_p.F359F|EGFR_ENST00000344576.2_Silent_p.F359F|EGFR_ENST00000455089.1_Silent_p.F314F|EGFR_ENST00000342916.3_Silent_p.F359F|EGFR_ENST00000454757.2_Silent_p.F306F|EGFR_ENST00000442591.1_Silent_p.F359F	NM_005228.3	NP_005219.2	P00533	EGFR_HUMAN	epidermal growth factor receptor	359					activation of phospholipase A2 activity by calcium-mediated signaling (GO:0043006)|activation of phospholipase C activity (GO:0007202)|alkanesulfonate metabolic process (GO:0019694)|astrocyte activation (GO:0048143)|axon guidance (GO:0007411)|cell proliferation (GO:0008283)|cell surface receptor signaling pathway (GO:0007166)|cellular response to amino acid stimulus (GO:0071230)|cellular response to dexamethasone stimulus (GO:0071549)|cellular response to drug (GO:0035690)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to estradiol stimulus (GO:0071392)|cellular response to mechanical stimulus (GO:0071260)|cerebral cortex cell migration (GO:0021795)|circadian rhythm (GO:0007623)|digestive tract morphogenesis (GO:0048546)|diterpenoid metabolic process (GO:0016101)|embryonic placenta development (GO:0001892)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|hair follicle development (GO:0001942)|hydrogen peroxide metabolic process (GO:0042743)|innate immune response (GO:0045087)|learning or memory (GO:0007611)|liver development (GO:0001889)|lung development (GO:0030324)|magnesium ion homeostasis (GO:0010960)|MAPK cascade (GO:0000165)|morphogenesis of an epithelial fold (GO:0060571)|negative regulation of apoptotic process (GO:0043066)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein catabolic process (GO:0042177)|neurotrophin TRK receptor signaling pathway (GO:0048011)|ossification (GO:0001503)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|polysaccharide metabolic process (GO:0005976)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031659)|positive regulation of DNA repair (GO:0045739)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of inflammatory response (GO:0050729)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of superoxide anion generation (GO:0032930)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of vasoconstriction (GO:0045907)|positive regulation of vasodilation (GO:0045909)|protein autophosphorylation (GO:0046777)|protein insertion into membrane (GO:0051205)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|response to calcium ion (GO:0051592)|response to cobalamin (GO:0033590)|response to hydroxyisoflavone (GO:0033594)|response to osmotic stress (GO:0006970)|response to oxidative stress (GO:0006979)|response to stress (GO:0006950)|response to UV-A (GO:0070141)|salivary gland morphogenesis (GO:0007435)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|tongue development (GO:0043586)|translation (GO:0006412)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|endosome membrane (GO:0010008)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|membrane raft (GO:0045121)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|Shc-EGFR complex (GO:0070435)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|epidermal growth factor-activated receptor activity (GO:0005006)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein heterodimerization activity (GO:0046982)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|transmembrane signaling receptor activity (GO:0004888)|ubiquitin protein ligase binding (GO:0031625)			NS(2)|adrenal_gland(5)|biliary_tract(8)|bone(3)|breast(18)|central_nervous_system(106)|endometrium(26)|eye(3)|haematopoietic_and_lymphoid_tissue(9)|kidney(11)|large_intestine(85)|liver(2)|lung(13575)|oesophagus(21)|ovary(38)|pancreas(3)|peritoneum(11)|pleura(2)|prostate(35)|salivary_gland(11)|skin(9)|small_intestine(1)|soft_tissue(4)|stomach(41)|thymus(2)|thyroid(14)|upper_aerodigestive_tract(59)|urinary_tract(6)	14110	all_cancers(1;1.57e-46)|all_epithelial(1;5.62e-37)|Lung NSC(1;9.29e-25)|all_lung(1;4.39e-23)|Esophageal squamous(2;7.55e-08)|Breast(14;0.0318)		GBM - Glioblastoma multiforme(1;0)|all cancers(1;2.19e-314)|Lung(13;4.65e-05)|LUSC - Lung squamous cell carcinoma(13;0.000168)|STAD - Stomach adenocarcinoma(5;0.00164)|Epithelial(13;0.0607)		Afatinib(DB08916)|Cetuximab(DB00002)|Erlotinib(DB00530)|Gefitinib(DB00317)|Lapatinib(DB01259)|Lidocaine(DB00281)|Panitumumab(DB01269)|Trastuzumab(DB00072)|Vandetanib(DB05294)	TTAAACACTTCAAAAACTGCA	0.418		8	"""A, O, Mis"""		"""glioma, NSCLC"""	NSCLC			Lung Cancer, Familial Clustering of	TCGA GBM(3;<1E-08)|TSP Lung(4;<1E-08)																												yes	Dom	yes	Familial lung cancer	7	7p12.3-p12.1	1956	"""epidermal growth factor receptor (erythroblastic leukemia viral (v-erb-b) oncogene homolog, avian)"""		"""E, O"""	0			7											85.0	88.0	87.0					7																	55224296		2203	4300	6503	55191790	SO:0001819	synonymous_variant	1956	Familial Cancer Database	incl. Hereditary Lung cancer, Hereditary Non-Small Cell Lung cancer		CCDS5514.1, CCDS5515.1, CCDS5516.1, CCDS47587.1	7p12	2014-09-17	2010-06-25		ENSG00000146648	ENSG00000146648			3236	protein-coding gene	gene with protein product	"""erythroblastic leukemia viral (v-erb-b) oncogene homolog (avian)"""	131550	"""epidermal growth factor receptor (avian erythroblastic leukemia viral (v-erb-b) oncogene homolog)"""	ERBB		1505215	Standard	NM_201282		Approved	ERBB1	uc003tqk.3	P00533	OTTHUMG00000023661	ENST00000275493.2:c.1077C>T	7.37:g.55224296C>T		Somatic		Capture	SOLID	Phase_IV	55191790	O00688|O00732|P06268|Q14225|Q68GS5|Q92795|Q9BZS2|Q9GZX1|Q9H2C9|Q9H3C9|Q9UMD7|Q9UMD8|Q9UMG5	Silent	SNP	ENST00000275493.2	37	CCDS5514.1	SNP	29	Baylor																																																																																				0.418	EGFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251456.2	NM_005228		Silent
ELAVL2	1993	hgsc.bcm.edu	37	9	23692568	23692568	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1365-01	TCGA-04-1365-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-04-1365-01	TCGA-04-1365-10	g.chr9:23692568G>A	ENST00000397312.2	-	7	1341	c.1067C>T	c.(1066-1068)aCg>aTg	p.T356M	ELAVL2_ENST00000380117.1_Missense_Mutation_p.T356M|ELAVL2_ENST00000380110.4_Missense_Mutation_p.T386M|ELAVL2_ENST00000223951.6_Missense_Mutation_p.T343M|ELAVL2_ENST00000544538.1_Missense_Mutation_p.T356M	NM_004432.3	NP_004423.2	Q12926	ELAV2_HUMAN	ELAV like neuron-specific RNA binding protein 2	356					regulation of transcription, DNA-templated (GO:0006355)		mRNA 3'-UTR binding (GO:0003730)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.T356M(1)		breast(1)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(8)|lung(20)|ovary(2)|skin(1)|stomach(1)|urinary_tract(1)	39				GBM - Glioblastoma multiforme(1;2.18e-156)|Lung(42;2.15e-28)|LUSC - Lung squamous cell carcinoma(38;1.02e-19)		GGCTTTGTGCGTTTTGTTTGT	0.393																																																1	Substitution - Missense(1)	ovary(1)	9											52.0	50.0	51.0					9																	23692568		2203	4300	6503	23682568	SO:0001583	missense	1993			BC030692	CCDS6515.1, CCDS55298.1	9p21	2013-10-03	2013-10-03		ENSG00000107105	ENSG00000107105		"""RNA binding motif (RRM) containing"""	3313	protein-coding gene	gene with protein product	"""Hu antigen B"""	601673	"""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2"", ""ELAV (embryonic lethal, abnormal vision, Drosophila)-like 2 (Hu antigen B)"""			8812435	Standard	NM_004432		Approved	HuB, HEL-N1	uc003zpu.3	Q12926	OTTHUMG00000019700	ENST00000397312.2:c.1067C>T	9.37:g.23692568G>A	ENSP00000380479:p.Thr356Met	Somatic		Capture	SOLID	Phase_IV	23682568	D3DRK3|Q13235|Q59G15|Q8NEM4|Q9H1Q8	Missense_Mutation	SNP	ENST00000397312.2	37	CCDS6515.1	SNP	40	Baylor	.	.	.	.	.	.	.	.	.	.	G	15.60	2.881458	0.51801	.	.	ENSG00000107105	ENST00000223951;ENST00000397312;ENST00000544538;ENST00000380110;ENST00000380117;ENST00000359598	T;T;T;T	0.06218	3.33;3.33;3.33;3.33	5.94	5.94	0.96194	Nucleotide-binding, alpha-beta plait (1);	0.042350	0.85682	N	0.000000	T	0.16385	0.0394	L	0.52905	1.665	0.80722	D	1	B;P	0.44627	0.234;0.839	B;P	0.49597	0.302;0.616	T	0.00013	-1.2416	10	0.62326	D	0.03	.	20.369	0.98888	0.0:0.0:1.0:0.0	.	356;343	Q12926;Q12926-2	ELAV2_HUMAN;.	M	343;356;356;343;356;384	ENSP00000223951:T343M;ENSP00000380479:T356M;ENSP00000440998:T356M;ENSP00000369460:T356M	ENSP00000223951:T343M	T	-	2	0	ELAVL2	23682568	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.374000	0.97172	2.819000	0.97034	0.650000	0.86243	ACG		0.393	ELAVL2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000051943.2	NM_004432		Missense_Mutation
EPS8L3	79574	hgsc.bcm.edu	37	1	110299773	110299773	+	Nonsense_Mutation	SNP	G	G	T	rs369693504		TCGA-04-1365-01	TCGA-04-1365-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-04-1365-01	TCGA-04-1365-10	g.chr1:110299773G>T	ENST00000361965.4	-	12	1090	c.984C>A	c.(982-984)tgC>tgA	p.C328*	EPS8L3_ENST00000369805.3_Nonsense_Mutation_p.C329*|EPS8L3_ENST00000494151.1_5'Flank|EPS8L3_ENST00000361852.4_Nonsense_Mutation_p.C328*|RP4-735C1.4_ENST00000431955.1_RNA	NM_133181.3	NP_573444.2	Q8TE67	ES8L3_HUMAN	EPS8-like 3	328						cytoplasm (GO:0005737)		p.C329*(1)		breast(1)|endometrium(3)|large_intestine(6)|lung(15)|ovary(5)|skin(1)|upper_aerodigestive_tract(1)	32		all_epithelial(167;1.95e-05)|all_lung(203;0.000135)|Lung NSC(277;0.000269)		Lung(183;0.0245)|Colorectal(144;0.0365)|all cancers(265;0.103)|Epithelial(280;0.109)|LUSC - Lung squamous cell carcinoma(189;0.137)|COAD - Colon adenocarcinoma(174;0.141)		CAGCCTCAGGGCACCTGGCCA	0.597																																																1	Substitution - Nonsense(1)	ovary(1)	1											54.0	47.0	49.0					1																	110299773		2203	4300	6503	110101296	SO:0001587	stop_gained	79574			AK025175	CCDS813.1, CCDS814.1, CCDS815.1	1p13.2	2008-02-05			ENSG00000198758	ENSG00000198758			21297	protein-coding gene	gene with protein product		614989				12620401	Standard	NM_139053		Approved	FLJ21522, MGC16817	uc001dyq.2	Q8TE67	OTTHUMG00000011651	ENST00000361965.4:c.984C>A	1.37:g.110299773G>T	ENSP00000355255:p.Cys328*	Somatic		Capture	SOLID	Phase_IV	110101296	A8K833|Q5T8Q6|Q5T8Q7|Q5T8Q8|Q96E47|Q9H719	Nonsense_Mutation	SNP	ENST00000361965.4	37	CCDS814.1	SNP	42	Baylor	.	.	.	.	.	.	.	.	.	.	G	38	6.864950	0.97897	.	.	ENSG00000198758	ENST00000361852;ENST00000369805;ENST00000361965	.	.	.	5.44	1.45	0.22620	.	0.092939	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-18.0893	7.166	0.25691	0.4319:0.0:0.5681:0.0	.	.	.	.	X	328;329;328	.	ENSP00000354551:C328X	C	-	3	2	EPS8L3	110101296	1.000000	0.71417	0.582000	0.28627	0.408000	0.30992	0.390000	0.20768	0.266000	0.21894	0.585000	0.79938	TGC		0.597	EPS8L3-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000032234.1	NM_024526		Nonsense_Mutation
FAM170A	340069	hgsc.bcm.edu	37	5	118969942	118969942	+	Missense_Mutation	SNP	G	G	C			TCGA-04-1365-01	TCGA-04-1365-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-04-1365-01	TCGA-04-1365-10	g.chr5:118969942G>C	ENST00000515256.1	+	3	671	c.499G>C	c.(499-501)Gtg>Ctg	p.V167L				A1A519	F170A_HUMAN	family with sequence similarity 170, member A	167					positive regulation of transcription, DNA-templated (GO:0045893)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	24						TTCTGAGGTTGTGAGGGTAGG	0.512																																																0			5											95.0	98.0	97.0					5																	118969942		1973	4171	6144	118997841	SO:0001583	missense	340069			AF427126	CCDS43353.1, CCDS54889.1	5q23.1	2008-06-12			ENSG00000164334	ENSG00000164334			27963	protein-coding gene	gene with protein product						12477932	Standard	NM_182761		Approved		uc003ksn.3	A1A519	OTTHUMG00000162946	ENST00000515256.1:c.499G>C	5.37:g.118969942G>C	ENSP00000422684:p.Val167Leu	Somatic		Capture	SOLID	Phase_IV	118997841	Q66LM8|Q7Z4V2|Q8IW94	Missense_Mutation	SNP	ENST00000515256.1	37		SNP	48	Baylor	.	.	.	.	.	.	.	.	.	.	G	5.898	0.349714	0.11182	.	.	ENSG00000164334	ENST00000296787;ENST00000515256;ENST00000509264	T;T	0.38077	1.16;1.16	4.74	2.87	0.33458	.	0.757647	0.11923	N	0.516424	T	0.32556	0.0833	M	0.67953	2.075	0.09310	N	1	B;P;P	0.40619	0.27;0.487;0.724	B;B;B	0.30943	0.086;0.122;0.122	T	0.09640	-1.0665	9	.	.	.	-18.5042	11.1634	0.48528	0.0:0.3616:0.6384:0.0	.	120;167;167	D6RIE9;A1A519;A2VCN0	.;F170A_HUMAN;.	L	120;167;167	ENSP00000422684:V167L;ENSP00000423697:V167L	.	V	+	1	0	FAM170A	118997841	0.002000	0.14202	0.076000	0.20297	0.043000	0.13939	0.473000	0.22132	0.674000	0.31244	0.655000	0.94253	GTG		0.512	FAM170A-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000371126.1	NM_182761		Missense_Mutation
RALGAPA1	253959	hgsc.bcm.edu	37	14	36074913	36074913	+	Missense_Mutation	SNP	C	C	A	rs368964947		TCGA-04-1365-01	TCGA-04-1365-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-04-1365-01	TCGA-04-1365-10	g.chr14:36074913C>A	ENST00000389698.3	-	35	5804	c.5414G>T	c.(5413-5415)cGa>cTa	p.R1805L	RALGAPA1_ENST00000307138.6_Missense_Mutation_p.R1805L|RALGAPA1_ENST00000258840.6_Missense_Mutation_p.R1852L|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.R1818L	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1805	Minimal domain that binds to TCF3/E12. {ECO:0000250}.|Rap-GAP. {ECO:0000255|PROSITE- ProRule:PRU00165}.				activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.R1805L(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						GTGTGTCTCTCGGCTATAAAA	0.318																																																1	Substitution - Missense(1)	ovary(1)	14											85.0	83.0	84.0					14																	36074913		2203	4299	6502	35144664	SO:0001583	missense	253959			AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"""tuberin-like protein 1"", ""GAP-related interacting protein to E12"""	608884	"""GTPase activating RANGAP domain-like 1"", ""GTPase activating Rap/RanGAP domain-like 1"""	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.5414G>T	14.37:g.36074913C>A	ENSP00000374348:p.Arg1805Leu	Somatic		Capture	SOLID	Phase_IV	35144664	A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Missense_Mutation	SNP	ENST00000389698.3	37	CCDS32065.1	SNP	31	Baylor	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	29.9|29.9	5.045642|5.045642	0.93685|0.93685	.|.	.|.	ENSG00000174373|ENSG00000174373	ENST00000554573|ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000554259;ENST00000382366;ENST00000553892	.|D;D;D;D;D;D	.|0.93906	.|-3.31;-3.31;-3.31;-3.31;-3.31;-3.31	5.3|5.3	5.3|5.3	0.74995|0.74995	.|Rap/ran-GAP (1);	.|0.000000	.|0.85682	.|D	.|0.000000	.|D	.|0.97114	.|0.9057	M|M	0.85099|0.85099	2.735|2.735	0.80722|0.80722	D|D	1|1	.|D;D;D;D	.|0.89917	.|0.999;0.996;1.0;1.0	.|D;D;D;D	.|0.97110	.|0.997;0.954;1.0;0.988	.|D	.|0.97541	.|1.0086	.|10	.|0.87932	.|D	.|0	-9.6489|-9.6489	19.3243|19.3243	0.94254|0.94254	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|1852;1818;1805;1805	.|Q6GYQ0-6;B9EK38;Q6GYQ0-2;Q6GYQ0	.|.;.;.;RGPA1_HUMAN	X|L	88|1805;1805;1805;1852;443;1818;1852	.|ENSP00000374348:R1805L;ENSP00000302647:R1805L;ENSP00000258840:R1852L;ENSP00000451133:R443L;ENSP00000371803:R1818L;ENSP00000451877:R1852L	.|ENSP00000258840:R1852L	E|R	-|-	1|2	0|0	RALGAPA1|RALGAPA1	35144664|35144664	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.956000|0.956000	0.61745|0.61745	7.729000|7.729000	0.84864|0.84864	2.627000|2.627000	0.88993|0.88993	0.655000|0.655000	0.94253|0.94253	GAG|CGA		0.318	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	XM_210022		Missense_Mutation
RALGAPA1	253959	hgsc.bcm.edu	37	14	36104683	36104683	+	Missense_Mutation	SNP	T	T	C			TCGA-04-1365-01	TCGA-04-1365-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-04-1365-01	TCGA-04-1365-10	g.chr14:36104683T>C	ENST00000389698.3	-	31	4670	c.4280A>G	c.(4279-4281)aAt>aGt	p.N1427S	RALGAPA1_ENST00000307138.6_Missense_Mutation_p.N1427S|RALGAPA1_ENST00000258840.6_Missense_Mutation_p.N1474S|RALGAPA1_ENST00000382366.3_Missense_Mutation_p.N1440S	NM_014990.1	NP_055805.1	Q6GYQ0	RGPA1_HUMAN	Ral GTPase activating protein, alpha subunit 1 (catalytic)	1427	Minimal domain that binds to TCF3/E12. {ECO:0000250}.				activation of Ral GTPase activity (GO:0032859)|regulation of transcription, DNA-templated (GO:0006355)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein heterodimerization activity (GO:0046982)|Ral GTPase activator activity (GO:0017123)	p.N1427S(1)		breast(4)|central_nervous_system(2)|cervix(1)|endometrium(7)|kidney(7)|large_intestine(14)|lung(21)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	67						ATAAATGCAATTGAGAACAGA	0.343																																																1	Substitution - Missense(1)	ovary(1)	14											42.0	41.0	41.0					14																	36104683		2203	4300	6503	35174434	SO:0001583	missense	253959			AK126975	CCDS32064.1, CCDS32065.1, CCDS61439.1	14q13.2	2012-01-26	2009-09-09	2009-09-09	ENSG00000174373	ENSG00000174373			17770	protein-coding gene	gene with protein product	"""tuberin-like protein 1"", ""GAP-related interacting protein to E12"""	608884	"""GTPase activating RANGAP domain-like 1"", ""GTPase activating Rap/RanGAP domain-like 1"""	GARNL1		19520869	Standard	NM_014990		Approved	GRIPE, DKFZp667F074, KIAA0884, Tulip1, RalGAPalpha1	uc001wtj.3	Q6GYQ0	OTTHUMG00000170619	ENST00000389698.3:c.4280A>G	14.37:g.36104683T>C	ENSP00000374348:p.Asn1427Ser	Somatic		Capture	SOLID	Phase_IV	35174434	A6NMA4|B9EK38|C5NU19|O94960|Q6GYP9|Q6ZT23|Q86YF3|Q86YF5|Q8ND69	Missense_Mutation	SNP	ENST00000389698.3	37	CCDS32065.1	SNP	52	Baylor	.	.	.	.	.	.	.	.	.	.	T	10.86	1.469527	0.26423	.	.	ENSG00000174373	ENST00000389698;ENST00000307138;ENST00000335518;ENST00000258840;ENST00000554259;ENST00000382366;ENST00000553892	T;T;T;T;T;T	0.66280	-0.2;-0.2;-0.2;1.63;-0.2;-0.2	5.41	4.27	0.50696	.	0.372310	0.35677	N	0.003060	T	0.39091	0.1065	N	0.15975	0.35	0.30607	N	0.759853	B;B;B;B	0.06786	0.001;0.0;0.0;0.0	B;B;B;B	0.08055	0.003;0.001;0.001;0.001	T	0.30650	-0.9971	10	0.10111	T	0.7	-14.7657	9.2232	0.37390	0.0:0.146:0.0:0.854	.	1474;1440;1427;1427	Q6GYQ0-6;B9EK38;Q6GYQ0-2;Q6GYQ0	.;.;.;RGPA1_HUMAN	S	1427;1427;1427;1474;65;1440;1474	ENSP00000374348:N1427S;ENSP00000302647:N1427S;ENSP00000258840:N1474S;ENSP00000451133:N65S;ENSP00000371803:N1440S;ENSP00000451877:N1474S	ENSP00000258840:N1474S	N	-	2	0	RALGAPA1	35174434	1.000000	0.71417	0.974000	0.42286	0.952000	0.60782	3.026000	0.49689	1.003000	0.39130	0.460000	0.39030	AAT		0.343	RALGAPA1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000409829.1	XM_210022		Missense_Mutation
GART	2618	hgsc.bcm.edu	37	21	34882122	34882122	+	Frame_Shift_Del	DEL	T	T	-			TCGA-04-1365-01	TCGA-04-1365-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-04-1365-01	TCGA-04-1365-10	g.chr21:34882122delT	ENST00000381831.3	-	18	2683	c.2420delA	c.(2419-2421)aagfs	p.K807fs	GART_ENST00000381839.3_Frame_Shift_Del_p.K807fs|GART_ENST00000543717.1_Frame_Shift_Del_p.K359fs|GART_ENST00000381815.4_Frame_Shift_Del_p.K807fs	NM_001136005.1	NP_001129477.1	P22102	PUR2_HUMAN	phosphoribosylglycinamide formyltransferase, phosphoribosylglycinamide synthetase, phosphoribosylaminoimidazole synthetase	807	AIRS.				'de novo' IMP biosynthetic process (GO:0006189)|brainstem development (GO:0003360)|cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|glycine metabolic process (GO:0006544)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase biosynthetic process (GO:0009113)|purine nucleobase metabolic process (GO:0006144)|purine ribonucleoside monophosphate biosynthetic process (GO:0009168)|response to inorganic substance (GO:0010035)|response to organic substance (GO:0010033)|small molecule metabolic process (GO:0044281)|tetrahydrofolate biosynthetic process (GO:0046654)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|phosphoribosylamine-glycine ligase activity (GO:0004637)|phosphoribosylformylglycinamidine cyclo-ligase activity (GO:0004641)|phosphoribosylglycinamide formyltransferase activity (GO:0004644)	p.K807fs*7(2)		NS(2)|breast(1)|endometrium(3)|large_intestine(3)|lung(13)|ovary(3)|prostate(5)|urinary_tract(1)	31					Pemetrexed(DB00642)	CACTCTGGCCTTTTTTTTTTC	0.448																																																2	Deletion - Frameshift(2)	ovary(2)	21							,,	89,4175		15,59,2058	66.0	70.0	68.0		,,	1.6	0.9	21		70	96,8158		13,70,4044	no	frameshift,frameshift,frameshift	GART	NM_001136006.1,NM_001136005.1,NM_000819.4	,,	28,129,6102	A1A1,A1R,RR		1.1631,2.0872,1.4779	,,	,,	34882122	185,12333	2203	4300	6503	33803992	SO:0001589	frameshift_variant	2618			M32082	CCDS13627.1, CCDS13628.1	21q22.11	2012-10-02			ENSG00000159131	ENSG00000159131	2.1.2.2, 6.3.3.1, 6.3.4.13		4163	protein-coding gene	gene with protein product		138440		PRGS, PGFT		2050105	Standard	NM_001136005		Approved		uc002yrx.3	P22102	OTTHUMG00000065628	ENST00000381831.3:c.2420delA	21.37:g.34882122delT	ENSP00000371253:p.Lys807fs	Somatic		Capture	SOLID	Phase_IV	33803992	A8K945|A8KA32|D3DSF3|D3DSF4|O14659|Q52M77	Frame_Shift_Del	DEL	ENST00000381831.3	37	CCDS13627.1	DEL	56	Baylor																																																																																				0.448	GART-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000140626.3	NM_000819		Frame_Shift_Del
GRM1	2911	hgsc.bcm.edu	37	6	146351338	146351338	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1365-01	TCGA-04-1365-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-04-1365-01	TCGA-04-1365-10	g.chr6:146351338G>T	ENST00000282753.1	+	1	920	c.685G>T	c.(685-687)Gca>Tca	p.A229S	GRM1_ENST00000355289.4_Missense_Mutation_p.A229S|GRM1_ENST00000507907.1_Missense_Mutation_p.A229S|GRM1_ENST00000392299.2_Missense_Mutation_p.A229S|GRM1_ENST00000361719.2_Missense_Mutation_p.A229S|GRM1_ENST00000492807.2_Missense_Mutation_p.A229S			Q13255	GRM1_HUMAN	glutamate receptor, metabotropic 1	229					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|cell death (GO:0008219)|cellular response to electrical stimulus (GO:0071257)|dimeric G-protein coupled receptor signaling pathway (GO:0038042)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|G-protein coupled receptor signaling pathway (GO:0007186)|locomotory behavior (GO:0007626)|positive regulation of cytosolic calcium ion concentration involved in phospholipase C-activating G-protein coupled signaling pathway (GO:0051482)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of sensory perception of pain (GO:0051930)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|G-protein coupled receptor dimeric complex (GO:0038037)|G-protein coupled receptor homodimeric complex (GO:0038038)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)	p.A229S(1)		NS(2)|breast(5)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(54)|ovary(7)|pancreas(2)|prostate(5)|skin(7)|upper_aerodigestive_tract(4)|urinary_tract(1)	126		Ovarian(120;0.0387)		OV - Ovarian serous cystadenocarcinoma(155;5.35e-08)|GBM - Glioblastoma multiforme(68;0.00762)		CTATGTCTCTGCAGTCCACAC	0.453																																																1	Substitution - Missense(1)	ovary(1)	6											57.0	59.0	58.0					6																	146351338		2203	4300	6503	146393031	SO:0001583	missense	2911			U31215	CCDS5209.1, CCDS47497.1, CCDS64548.1	6q24	2014-06-12			ENSG00000152822	ENSG00000152822		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4593	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 85"""	604473				9076744, 9376535	Standard	NM_001278064		Approved	GPRC1A, mGlu1, MGLUR1, PPP1R85	uc010khw.2	Q13255	OTTHUMG00000015752	ENST00000282753.1:c.685G>T	6.37:g.146351338G>T	ENSP00000282753:p.Ala229Ser	Somatic		Capture	SOLID	Phase_IV	146393031	B9EG79|F8W805|Q13256|Q14757|Q14758|Q5VTF7|Q5VTF8|Q9NU10|Q9UGS9|Q9UGT0	Missense_Mutation	SNP	ENST00000282753.1	37	CCDS5209.1	SNP	46	Baylor	.	.	.	.	.	.	.	.	.	.	G	24.5	4.542154	0.85917	.	.	ENSG00000152822	ENST00000361719;ENST00000392299;ENST00000492807;ENST00000282753;ENST00000355289;ENST00000507907	D;D;D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79;-1.79;-1.79	5.79	5.79	0.91817	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.87426	0.6174	M	0.79926	2.475	0.80722	D	1	B;D;B;B	0.53151	0.23;0.958;0.272;0.23	B;P;B;B	0.52066	0.168;0.689;0.259;0.168	D	0.88349	0.2980	10	0.66056	D	0.02	.	19.6316	0.95708	0.0:0.0:1.0:0.0	.	229;229;224;229	F8W805;Q13255;Q59HC2;Q13255-2	.;GRM1_HUMAN;.;.	S	229	ENSP00000354896:A229S;ENSP00000376119:A229S;ENSP00000424095:A229S;ENSP00000282753:A229S;ENSP00000347437:A229S;ENSP00000425599:A229S	ENSP00000282753:A229S	A	+	1	0	GRM1	146393031	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.062000	0.89475	2.736000	0.93811	0.561000	0.74099	GCA		0.453	GRM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042574.1	NM_000838		Missense_Mutation
HCN1	348980	hgsc.bcm.edu	37	5	45645336	45645336	+	Missense_Mutation	SNP	C	C	A			TCGA-04-1365-01	TCGA-04-1365-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-04-1365-01	TCGA-04-1365-10	g.chr5:45645336C>A	ENST00000303230.4	-	2	857	c.800G>T	c.(799-801)cGt>cTt	p.R267L		NM_021072.3	NP_066550.2	O60741	HCN1_HUMAN	hyperpolarization activated cyclic nucleotide-gated potassium channel 1	267					apical protein localization (GO:0045176)|cellular response to cAMP (GO:0071320)|potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|regulation of membrane potential (GO:0042391)|retinal cone cell development (GO:0046549)|sodium ion transmembrane transport (GO:0035725)|synaptic transmission (GO:0007268)	axon (GO:0030424)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	cAMP binding (GO:0030552)|intracellular cAMP activated cation channel activity (GO:0005222)|potassium channel activity (GO:0005267)|voltage-gated potassium channel activity (GO:0005249)|voltage-gated sodium channel activity (GO:0005248)	p.R267L(1)		NS(3)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(21)|liver(1)|lung(98)|ovary(1)|prostate(7)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(5)	156						TCGTAATAAACGCAAGAGACT	0.313																																																1	Substitution - Missense(1)	ovary(1)	5											46.0	45.0	45.0					5																	45645336		2203	4300	6503	45681093	SO:0001583	missense	348980			AF064876	CCDS3952.1	5p12	2011-07-05			ENSG00000164588	ENSG00000164588		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	4845	protein-coding gene	gene with protein product		602780		BCNG1		9405696, 9630217, 16382102	Standard	NM_021072		Approved	BCNG-1, HAC-2	uc003jok.3	O60741	OTTHUMG00000131155	ENST00000303230.4:c.800G>T	5.37:g.45645336C>A	ENSP00000307342:p.Arg267Leu	Somatic		Capture	SOLID	Phase_IV	45681093		Missense_Mutation	SNP	ENST00000303230.4	37	CCDS3952.1	SNP	19	Baylor	.	.	.	.	.	.	.	.	.	.	C	31	5.063210	0.93898	.	.	ENSG00000164588	ENST00000303230	D	0.98717	-5.09	5.5	5.5	0.81552	Ion transport (1);	0.000000	0.64402	D	0.000012	D	0.99423	0.9796	H	0.94808	3.585	0.80722	D	1	D	0.89917	1.0	D	0.77004	0.989	D	0.98604	1.0660	10	0.87932	D	0	.	19.403	0.94639	0.0:1.0:0.0:0.0	.	267	O60741	HCN1_HUMAN	L	267	ENSP00000307342:R267L	ENSP00000307342:R267L	R	-	2	0	HCN1	45681093	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.818000	0.86416	2.589000	0.87451	0.650000	0.86243	CGT		0.313	HCN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253847.1	NM_021072		Missense_Mutation
HNF1B	6928	hgsc.bcm.edu	37	17	36070604	36070604	+	Silent	SNP	G	G	A			TCGA-04-1365-01	TCGA-04-1365-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-04-1365-01	TCGA-04-1365-10	g.chr17:36070604G>A	ENST00000225893.4	-	5	1474	c.1113C>T	c.(1111-1113)aaC>aaT	p.N371N	HNF1B_ENST00000561193.1_Silent_p.N345N|HNF1B_ENST00000560016.1_Silent_p.N371N|HNF1B_ENST00000427275.2_Silent_p.N345N	NM_000458.2|NM_001165923.1	NP_000449.1|NP_001159395.1	P35680	HNF1B_HUMAN	HNF1 homeobox B	371					anterior/posterior pattern specification (GO:0009952)|branching morphogenesis of an epithelial tube (GO:0048754)|embryonic digestive tract morphogenesis (GO:0048557)|endocrine pancreas development (GO:0031018)|endodermal cell fate specification (GO:0001714)|epithelial cell proliferation (GO:0050673)|genitalia development (GO:0048806)|hepatoblast differentiation (GO:0061017)|hindbrain development (GO:0030902)|inner cell mass cell differentiation (GO:0001826)|insulin secretion (GO:0030073)|kidney development (GO:0001822)|mesonephric duct formation (GO:0072181)|negative regulation of mesenchymal cell apoptotic process involved in mesonephric nephron morphogenesis (GO:0061296)|negative regulation of mesenchymal cell apoptotic process involved in metanephros development (GO:1900212)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|pronephric nephron tubule development (GO:0039020)|pronephros development (GO:0048793)|regulation of branch elongation involved in ureteric bud branching (GO:0072095)|regulation of endodermal cell fate specification (GO:0042663)|regulation of pronephros size (GO:0035565)|regulation of Wnt signaling pathway (GO:0030111)|response to glucose (GO:0009749)|ureteric bud elongation (GO:0060677)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|protein homodimerization activity (GO:0042803)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(6)|kidney(3)|large_intestine(2)|liver(1)|lung(3)|ovary(3)|prostate(1)|skin(2)	28		Breast(25;0.00765)|Ovarian(249;0.15)	STAD - Stomach adenocarcinoma(1;0.0142)			CCATGGCGCTGTTGCCATGGT	0.522																																					Colon(71;102 1179 9001 27917 43397)											0			17											82.0	72.0	76.0					17																	36070604		2203	4300	6503	33144717	SO:0001819	synonymous_variant	6928			BC017714	CCDS11324.1, CCDS58538.1	17q12	2014-05-06	2007-08-24	2007-08-24	ENSG00000108753	ENSG00000275410		"""Homeoboxes / HNF class"""	11630	protein-coding gene	gene with protein product		189907	"""transcription factor 2, hepatic; LF-B3; variant hepatic nuclear factor"""	TCF2		1677179, 10484768	Standard	NM_000458		Approved	LFB3, VHNF1, HNF1beta, MODY5	uc002hok.4	P35680	OTTHUMG00000188478	ENST00000225893.4:c.1113C>T	17.37:g.36070604G>A		Somatic		Capture	SOLID	Phase_IV	33144717	B4DKM3|E0YMJ9	Silent	SNP	ENST00000225893.4	37	CCDS11324.1	SNP	48	Baylor																																																																																				0.522	HNF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256807.3	NM_000458		Silent
MACF1	23499	hgsc.bcm.edu	37	1	39823311	39823311	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1365-01	TCGA-04-1365-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-04-1365-01	TCGA-04-1365-10	g.chr1:39823311G>A	ENST00000372915.3	+	44	11791	c.11704G>A	c.(11704-11706)Gag>Aag	p.E3902K	MACF1_ENST00000564288.1_Missense_Mutation_p.E3897K|MACF1_ENST00000289893.4_Missense_Mutation_p.E2337K|MACF1_ENST00000476350.1_3'UTR|MACF1_ENST00000317713.7_Missense_Mutation_p.E1835K|MACF1_ENST00000539005.1_Missense_Mutation_p.E1835K|MACF1_ENST00000545844.1_Missense_Mutation_p.E1835K|MACF1_ENST00000567887.1_Missense_Mutation_p.E3934K|MACF1_ENST00000361689.2_Missense_Mutation_p.E1835K			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	3902					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.E1835K(1)|p.E2337K(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			GGAACGATCCGAGAAAGAGCT	0.507																																																2	Substitution - Missense(2)	ovary(2)	1											67.0	70.0	69.0					1																	39823311		2203	4300	6503	39595898	SO:0001583	missense	23499			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.11704G>A	1.37:g.39823311G>A	ENSP00000362006:p.Glu3902Lys	Somatic		Capture	SOLID	Phase_IV	39595898	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37		SNP	37	Baylor	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	36|36	5.854465|5.854465	0.97030|0.97030	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000530262;ENST00000289893|ENST00000372925	T;T;T;T;T;T;T|.	0.47177|.	0.85;0.85;0.85;0.85;0.85;0.85;0.85|.	6.07|6.07	6.07|6.07	0.98685|0.98685	.|.	0.000000|.	0.64402|.	D|.	0.000011|.	T|T	0.78502|0.78502	0.4293|0.4293	M|M	0.76574|0.76574	2.34|2.34	0.80722|0.80722	D|D	1|1	D;D;D;D|.	0.89917|.	1.0;1.0;1.0;1.0|.	D;D;D;D|.	0.87578|.	0.994;0.977;0.998;0.977|.	T|T	0.75780|0.75780	-0.3197|-0.3197	10|5	0.66056|.	D|.	0.02|.	.|.	20.6439|20.6439	0.99570|0.99570	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	3902;1835;1835;1800|.	Q9UPN3;F8W8Q1;Q9UPN3-2;Q9UPN3-3|.	MACF1_HUMAN;.;.;.|.	K|Q	1835;3902;1835;1835;1835;1984;2337|968	ENSP00000439537:E1835K;ENSP00000362006:E3902K;ENSP00000354573:E1835K;ENSP00000313438:E1835K;ENSP00000444364:E1835K;ENSP00000437059:E1984K;ENSP00000289893:E2337K|.	ENSP00000289893:E2337K|.	E|R	+|+	1|2	0|0	MACF1|MACF1	39595898|39595898	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.993000|0.993000	0.82548|0.82548	6.306000|6.306000	0.72810|0.72810	2.884000|2.884000	0.98904|0.98904	0.655000|0.655000	0.94253|0.94253	GAG|CGA		0.507	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		Missense_Mutation
NBPF12	149013	hgsc.bcm.edu	37	1	146462785	146462785	+	Missense_Mutation	SNP	T	T	C	rs113947871		TCGA-04-1365-01	TCGA-04-1365-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-04-1365-01	TCGA-04-1365-10	g.chr1:146462785T>C	ENST00000442909.2	+	78	10209	c.9373T>C	c.(9373-9375)Tac>Cac	p.Y3125H	NBPF12_ENST00000446760.2_Intron|NBPF12_ENST00000446080.2_Missense_Mutation_p.Y63H|NBPF12_ENST00000309471.8_Intron			Q5TAG4	NBPFC_HUMAN	neuroblastoma breakpoint family, member 12	63						cytoplasm (GO:0005737)		p.Y63H(1)		ovary(2)	2						AAGTGCTGTTTACTCATTGGA	0.493																																																1	Substitution - Missense(1)	ovary(1)	1																																								144929408	SO:0001583	missense	440675			BG154169	CCDS72881.1	1q21.1	2013-01-17	2011-06-28	2011-06-28	ENSG00000186275	ENSG00000268043		"""neuroblastoma breakpoint family"""	24297	protein-coding gene	gene with protein product		608607	"""KIAA1245"""	KIAA1245		11948409	Standard	NM_001278141		Approved	COAS1		Q5TAG4	OTTHUMG00000043708	ENST00000442909.2:c.9373T>C	1.37:g.146462785T>C	ENSP00000391116:p.Tyr3125His	Somatic		Capture	SOLID	Phase_IV	144929408	O95877	Missense_Mutation	SNP	ENST00000442909.2	37		SNP	61	Baylor	.	.	.	.	.	.	.	.	.	.	N	4.998	0.185373	0.09495	.	.	ENSG00000186275	ENST00000442909;ENST00000446080	T;T	0.08720	3.06;3.06	0.583	0.583	0.17417	.	.	.	.	.	T	0.03434	0.0099	.	.	.	0.09310	N	0.999999	.	.	.	.	.	.	T	0.42344	-0.9457	5	0.48119	T	0.1	.	.	.	.	.	.	.	.	H	3125;63	ENSP00000391116:Y3125H;ENSP00000407570:Y63H	ENSP00000391116:Y3125H	Y	+	1	0	NBPF12	144929408	0.001000	0.12720	0.001000	0.08648	0.001000	0.01503	1.062000	0.30555	0.487000	0.27698	0.327000	0.21459	TAC		0.493	NBPF12-001	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000102086.3	XM_003119146		Missense_Mutation
NCOA3	8202	hgsc.bcm.edu	37	20	46277797	46277798	+	In_Frame_Ins	INS	-	-	CTG	rs551807396|rs34878970		TCGA-04-1365-01	TCGA-04-1365-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-04-1365-01	TCGA-04-1365-10	g.chr20:46277797_46277798insCTG	ENST00000371998.3	+	19	3786_3787	c.3595_3596insCTG	c.(3595-3597)act>aCTGct	p.1200_1201insA	NCOA3_ENST00000341724.6_In_Frame_Ins_p.1130_1131insA|NCOA3_ENST00000372004.3_In_Frame_Ins_p.1200_1201insA|NCOA3_ENST00000371997.3_In_Frame_Ins_p.1195_1196insA			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1200	Acetyltransferase.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.A1200_G1201insA(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						GGAAAACCCTACTGCTGGTGGT	0.515																																																1	Insertion - In frame(1)	ovary(1)	20																																								45711205	SO:0001652	inframe_insertion	8202			AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.3599_3601dupCTG	20.37:g.46277801_46277803dupCTG	ENSP00000361066:p.Ala1200_Ala1200dup	Somatic		Capture	SOLID	Phase_IV	45711204	A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	In_Frame_Ins	INS	ENST00000371998.3	37	CCDS13407.1	INS	14	Baylor																																																																																				0.515	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534		In_Frame_Ins
OR11G2	390439	hgsc.bcm.edu	37	14	20666175	20666176	+	Frame_Shift_Ins	INS	-	-	A	rs398102302|rs200876108|rs77164062|rs55781225|rs398077614	byFrequency	TCGA-04-1365-01	TCGA-04-1365-10	-	-	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-04-1365-01	TCGA-04-1365-10	g.chr14:20666175_20666176insA	ENST00000357366.3	+	1	681_682	c.681_682insA	c.(682-684)aaafs	p.K228fs		NM_001005503.1	NP_001005503.1	Q8NGC1	O11G2_HUMAN	olfactory receptor, family 11, subfamily G, member 2	228						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.G230fs*74(1)		endometrium(3)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(95;0.00108)		Epithelial(56;9.76e-07)|all cancers(55;5.61e-06)	GBM - Glioblastoma multiforme(265;0.0144)		CTCTCACTTGCAAAAAAGGCCC	0.45																																																1	Insertion - Frameshift(1)	ovary(1)	14								2850,1414		945,960,227						3.1	0.6		dbSNP_130	125	5846,2408		2086,1674,367	no	frameshift	OR11G2	NM_001005503.1		3031,2634,594	A1A1,A1R,RR		29.1737,33.1614,30.532				8696,3822				19736016	SO:0001589	frameshift_variant	390439				CCDS32032.1	14q11.2	2013-09-24			ENSG00000196832	ENSG00000196832		"""GPCR / Class A : Olfactory receptors"""	15346	protein-coding gene	gene with protein product							Standard	NM_001005503		Approved		uc010tlb.2	Q8NGC1	OTTHUMG00000167700	ENST00000357366.3:c.687dupA	14.37:g.20666181_20666181dupA	ENSP00000349930:p.Lys228fs	Somatic		Capture	SOLID	Phase_IV	19736015	Q6IF09|Q96R33	Frame_Shift_Ins	INS	ENST00000357366.3	37	CCDS32032.1	INS	25	Baylor																																																																																				0.450	OR11G2-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395722.1			Frame_Shift_Ins
P2RY2	5029	hgsc.bcm.edu	37	11	72945452	72945452	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1365-01	TCGA-04-1365-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-04-1365-01	TCGA-04-1365-10	g.chr11:72945452C>T	ENST00000311131.2	+	3	715	c.248C>T	c.(247-249)gCg>gTg	p.A83V	P2RY2_ENST00000393596.2_Missense_Mutation_p.A83V|P2RY2_ENST00000393597.2_Missense_Mutation_p.A83V	NM_002564.2|NM_176072.1	NP_002555|NP_788086	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	83					cellular ion homeostasis (GO:0006873)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of mucus secretion (GO:0070257)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)	p.A83V(1)		endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	GCACTGTATGCGGCCTCCCTG	0.592																																																1	Substitution - Missense(1)	ovary(1)	11											126.0	104.0	111.0					11																	72945452		2200	4293	6493	72623100	SO:0001583	missense	5029			U07225	CCDS8219.1	11q13.5-q14.1	2012-08-08				ENSG00000175591		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8541	protein-coding gene	gene with protein product		600041				8159738, 9286708	Standard	NM_002564		Approved	P2U	uc001otj.4	P41231		ENST00000311131.2:c.248C>T	11.37:g.72945452C>T	ENSP00000310305:p.Ala83Val	Somatic		Capture	SOLID	Phase_IV	72623100	B2R9W3|Q96EM8	Missense_Mutation	SNP	ENST00000311131.2	37	CCDS8219.1	SNP	27	Baylor	.	.	.	.	.	.	.	.	.	.	C	6.415	0.444712	0.12164	.	.	ENSG00000175591	ENST00000393597;ENST00000311131;ENST00000393596	T;T;T	0.37235	1.21;1.21;1.21	5.26	4.24	0.50183	GPCR, rhodopsin-like superfamily (1);	0.201227	0.43260	D	0.000600	T	0.08626	0.0214	N	0.00991	-1.07	0.32507	N	0.538097	B	0.20368	0.044	B	0.15052	0.012	T	0.34700	-0.9818	10	0.02654	T	1	.	3.8503	0.08953	0.0:0.6729:0.0:0.3271	.	83	P41231	P2RY2_HUMAN	V	83	ENSP00000377222:A83V;ENSP00000310305:A83V;ENSP00000377221:A83V	ENSP00000310305:A83V	A	+	2	0	P2RY2	72623100	1.000000	0.71417	0.918000	0.36340	0.930000	0.56654	6.122000	0.71608	2.460000	0.83146	0.650000	0.86243	GCG		0.592	P2RY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397336.1	NM_176072		Missense_Mutation
PROM2	150696	hgsc.bcm.edu	37	2	95941696	95941696	+	Missense_Mutation	SNP	G	G	T			TCGA-04-1365-01	TCGA-04-1365-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-04-1365-01	TCGA-04-1365-10	g.chr2:95941696G>T	ENST00000317620.9	+	3	446	c.313G>T	c.(313-315)Ggc>Tgc	p.G105C	PROM2_ENST00000463580.1_Intron|PROM2_ENST00000542147.1_Missense_Mutation_p.G105C|PROM2_ENST00000403131.2_Missense_Mutation_p.G105C|PROM2_ENST00000317668.4_Missense_Mutation_p.G105C	NM_001165978.1	NP_001159450.1	Q8N271	PROM2_HUMAN	prominin 2	105					negative regulation of caveolin-mediated endocytosis (GO:2001287)|negative regulation of pinocytosis (GO:0048550)|positive regulation of cell projection organization (GO:0031346)|positive regulation of protein phosphorylation (GO:0001934)|regulation of Cdc42 GTPase activity (GO:0043088)	cell projection (GO:0042995)|cell surface (GO:0009986)|cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|microspike (GO:0044393)|microvillus (GO:0005902)|prominosome (GO:0071914)	cholesterol binding (GO:0015485)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(8)|lung(12)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	32						GTACGAGGCGGGCTACGTGGT	0.697																																																0			2											19.0	29.0	25.0					2																	95941696		2200	4298	6498	95305423	SO:0001583	missense	150696			AF245303	CCDS2012.1	2q11.1	2008-02-05			ENSG00000155066	ENSG00000155066			20685	protein-coding gene	gene with protein product						12514187	Standard	NM_001165978		Approved		uc002sui.3	Q8N271	OTTHUMG00000130393	ENST00000317620.9:c.313G>T	2.37:g.95941696G>T	ENSP00000318270:p.Gly105Cys	Somatic		Capture	SOLID	Phase_IV	95305423	A8K2V1|Q2HIX6|Q8NB84|Q8TAE2	Missense_Mutation	SNP	ENST00000317620.9	37	CCDS2012.1	SNP	43	Baylor	.	.	.	.	.	.	.	.	.	.	G	14.40	2.523196	0.44866	.	.	ENSG00000155066	ENST00000403131;ENST00000317668;ENST00000317620;ENST00000542147	T;T;T;T	0.54071	0.59;0.59;0.59;0.59	4.77	4.77	0.60923	.	0.000000	0.64402	D	0.000008	T	0.72495	0.3467	M	0.80183	2.485	0.58432	D	0.999996	D	0.89917	1.0	D	0.97110	1.0	T	0.76337	-0.2996	10	0.62326	D	0.03	-27.3926	13.2812	0.60214	0.0:0.0:1.0:0.0	.	105	Q8N271	PROM2_HUMAN	C	105	ENSP00000385716:G105C;ENSP00000318520:G105C;ENSP00000318270:G105C;ENSP00000442542:G105C	ENSP00000318270:G105C	G	+	1	0	PROM2	95305423	1.000000	0.71417	0.931000	0.37212	0.057000	0.15508	6.603000	0.74145	2.176000	0.68965	0.462000	0.41574	GGC		0.697	PROM2-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252771.1	NM_144707		Missense_Mutation
RYR3	6263	hgsc.bcm.edu	37	15	34137080	34137082	+	In_Frame_Del	DEL	AGA	AGA	-	rs3217346|rs397840365	byFrequency	TCGA-04-1365-01	TCGA-04-1365-10	AGA	AGA	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-04-1365-01	TCGA-04-1365-10	g.chr15:34137080_34137082delAGA	ENST00000389232.4	+	93	13384_13386	c.13314_13316delAGA	c.(13312-13317)ttagaa>tta	p.E4441del	RYR3_ENST00000415757.3_In_Frame_Del_p.E4436del	NM_001036.3	NP_001027.3	Q15413	RYR3_HUMAN	ryanodine receptor 3	4441					calcium ion transmembrane transport (GO:0070588)|calcium ion transport (GO:0006816)|cellular response to ATP (GO:0071318)|cellular response to caffeine (GO:0071313)|cellular response to calcium ion (GO:0071277)|cellular response to magnesium ion (GO:0071286)|ion transmembrane transport (GO:0034220)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|protein homotetramerization (GO:0051289)|striated muscle contraction (GO:0006941)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|junctional membrane complex (GO:0030314)|perinuclear region of cytoplasm (GO:0048471)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|ryanodine-sensitive calcium-release channel activity (GO:0005219)	p.E4440delE(1)		NS(3)|breast(9)|central_nervous_system(8)|cervix(2)|endometrium(29)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(55)|lung(148)|ovary(7)|pancreas(1)|prostate(13)|skin(4)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(3)	311		all_lung(180;7.18e-09)		all cancers(64;8.95e-12)|GBM - Glioblastoma multiforme(186;0.00109)|BRCA - Breast invasive adenocarcinoma(123;0.0363)		AAGAACCTTTAGAAGAAGAGACA	0.419														372	0.0742812	0.0424	0.1124	5008	,	,		20594	0.0069		0.1491	False		,,,				2504	0.0828															1	Deletion - In frame(1)	ovary(1)	15								177,3473		13,151,1661						3.8	1.0		dbSNP_134	95	1380,6492		115,1150,2671	no	coding	RYR3	NM_001036.3		128,1301,4332	A1A1,A1R,RR		17.5305,4.8493,13.5133				1557,9965				31924374	SO:0001651	inframe_deletion	6263				CCDS45210.1, CCDS58351.1	15q14-q15	2013-01-10				ENSG00000198838		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10485	protein-coding gene	gene with protein product		180903				8276408	Standard	NM_001036		Approved		uc001zhi.3	Q15413		ENST00000389232.4:c.13314_13316delAGA	15.37:g.34137086_34137088delAGA	ENSP00000373884:p.Glu4441del	Somatic		Capture	SOLID	Phase_IV	31924372	O15175|Q15412	In_Frame_Del	DEL	ENST00000389232.4	37	CCDS45210.1	DEL	15	Baylor																																																																																				0.419	RYR3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000417514.1			In_Frame_Del
SLC12A9	56996	hgsc.bcm.edu	37	7	100454599	100454601	+	In_Frame_Del	DEL	CGG	CGG	-	rs141354939		TCGA-04-1365-01	TCGA-04-1365-10	CGG	CGG	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-04-1365-01	TCGA-04-1365-10	g.chr7:100454599_100454601delCGG	ENST00000354161.3	+	5	683_685	c.558_560delCGG	c.(556-561)gccggc>gcc	p.G187del	SLC12A9_ENST00000428758.1_In_Frame_Del_p.G187del|SLC12A9_ENST00000415287.1_In_Frame_Del_p.G98del|SLC12A9_ENST00000275729.3_In_Frame_Del_p.G98del|SLC12A9_ENST00000540482.1_In_Frame_Del_p.G187del	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	187					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation:chloride symporter activity (GO:0015377)	p.G187delG(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					CCCTGGGAGCCGGCCTCTATGCC	0.67																																																1	Deletion - In frame(1)	ovary(1)	7																																								100292537	SO:0001651	inframe_deletion	56996			AF284422	CCDS5707.1, CCDS59068.1, CCDS59069.1	7q22	2013-07-18	2013-07-18		ENSG00000146828	ENSG00000146828		"""Solute carriers"""	17435	protein-coding gene	gene with protein product	"""cation-chloride cotransporter-interacting protein"""					10871601, 11239002	Standard	NM_020246		Approved	CIP1	uc003uwp.4	Q9BXP2	OTTHUMG00000156045	ENST00000354161.3:c.558_560delCGG	7.37:g.100454599_100454601delCGG	ENSP00000275730:p.Gly187del	Somatic		Capture	SOLID	Phase_IV	100292535	B7Z740|D6W5X0|D6W5X2|F5H8C2|Q9BWL2|Q9BXP1|Q9BYI0|Q9NQR5	In_Frame_Del	DEL	ENST00000354161.3	37	CCDS5707.1	DEL	23	Baylor																																																																																				0.670	SLC12A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342837.1	NM_020246		In_Frame_Del
SLC5A12	159963	hgsc.bcm.edu	37	11	26705372	26705372	+	Missense_Mutation	SNP	C	C	T			TCGA-04-1365-01	TCGA-04-1365-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-04-1365-01	TCGA-04-1365-10	g.chr11:26705372C>T	ENST00000396005.3	-	11	1549	c.1240G>A	c.(1240-1242)Ggc>Agc	p.G414S		NM_178498.3	NP_848593.2	Q1EHB4	SC5AC_HUMAN	solute carrier family 5 (sodium/monocarboxylate cotransporter), member 12	414					sodium ion transport (GO:0006814)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	symporter activity (GO:0015293)	p.G414S(1)		breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(16)|ovary(2)|prostate(1)|skin(2)|stomach(1)	35						CCACACATGCCGTGAATGCTG	0.522																																																1	Substitution - Missense(1)	ovary(1)	11											51.0	51.0	51.0					11																	26705372		1971	4171	6142	26661948	SO:0001583	missense	159963			BC049207	CCDS7860.2	11p14.2	2013-07-19	2013-07-19		ENSG00000148942	ENSG00000148942		"""Solute carriers"""	28750	protein-coding gene	gene with protein product		612455	"""solute carrier family 5 (sodium/glucose cotransporter), member 12"""			12477932	Standard	NM_178498		Approved	MGC52019, SMCT2	uc001mra.2	Q1EHB4	OTTHUMG00000150706	ENST00000396005.3:c.1240G>A	11.37:g.26705372C>T	ENSP00000379326:p.Gly414Ser	Somatic		Capture	SOLID	Phase_IV	26661948	Q86UC7	Missense_Mutation	SNP	ENST00000396005.3	37	CCDS7860.2	SNP	23	Baylor	.	.	.	.	.	.	.	.	.	.	C	21.9	4.210357	0.79240	.	.	ENSG00000148942	ENST00000396005	D	0.87029	-2.2	5.59	5.59	0.84812	.	0.491568	0.17320	U	0.178557	D	0.92779	0.7704	M	0.65677	2.01	0.80722	D	1	D	0.76494	0.999	D	0.71870	0.975	D	0.92179	0.5750	10	0.51188	T	0.08	.	18.353	0.90344	0.0:1.0:0.0:0.0	.	414	Q1EHB4	SC5AC_HUMAN	S	414	ENSP00000379326:G414S	ENSP00000379326:G414S	G	-	1	0	SLC5A12	26661948	1.000000	0.71417	1.000000	0.80357	0.505000	0.33919	6.114000	0.71560	2.620000	0.88729	0.655000	0.94253	GGC		0.522	SLC5A12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319681.1	NM_178498		Missense_Mutation
SRCIN1	80725	hgsc.bcm.edu	37	17	36705408	36705408	+	Missense_Mutation	SNP	A	A	C			TCGA-04-1365-01	TCGA-04-1365-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-04-1365-01	TCGA-04-1365-10	g.chr17:36705408A>C	ENST00000264659.7	-	16	3225	c.3001T>G	c.(3001-3003)Tcc>Gcc	p.S1001A	SRCIN1_ENST00000578925.1_Missense_Mutation_p.S1035A|SRCIN1_ENST00000398579.4_5'UTR	NM_025248.2	NP_079524.2	Q9C0H9	SRCN1_HUMAN	SRC kinase signaling inhibitor 1	873					exocytosis (GO:0006887)|negative regulation of protein tyrosine kinase activity (GO:0061099)|positive regulation of protein tyrosine kinase activity (GO:0061098)|regulation of cell migration (GO:0030334)|regulation of dendritic spine morphogenesis (GO:0061001)|substrate adhesion-dependent cell spreading (GO:0034446)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	protein kinase binding (GO:0019901)			endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|prostate(1)	19						GGCGACTTGGAGGGCTTCTCT	0.652																																																0			17											16.0	19.0	18.0					17																	36705408		1932	4112	6044	33958934	SO:0001583	missense	80725				CCDS45660.1	17q12	2009-12-14			ENSG00000017373	ENSG00000277363			29506	protein-coding gene	gene with protein product	"""p130Cas-associated protein"", ""SNAP-25-interacting protein"""	610786				11214970	Standard	NM_025248		Approved	SNIP, p140Cap, KIAA1684	uc002hqd.3	Q9C0H9		ENST00000264659.7:c.3001T>G	17.37:g.36705408A>C	ENSP00000264659:p.Ser1001Ala	Somatic		Capture	SOLID	Phase_IV	33958934	Q75T46|Q8N4W8	Missense_Mutation	SNP	ENST00000264659.7	37	CCDS45660.1	SNP	11	Baylor	.	.	.	.	.	.	.	.	.	.	A	27.3	4.814589	0.90790	.	.	ENSG00000017373	ENST00000264659;ENST00000542707;ENST00000398579	T	0.52754	0.65	5.29	5.29	0.74685	.	0.000000	0.85682	D	0.000000	T	0.66548	0.2800	M	0.70595	2.14	0.51012	D	0.999902	D;D;D	0.67145	0.996;0.996;0.996	D;D;D	0.77557	0.99;0.99;0.99	T	0.67325	-0.5699	10	0.42905	T	0.14	-30.407	14.206	0.65734	1.0:0.0:0.0:0.0	.	873;873;1001	Q9C0H9-2;Q9C0H9;Q9C0H9-5	.;SRCN1_HUMAN;.	A	1001;782;855	ENSP00000264659:S1001A	ENSP00000264659:S1001A	S	-	1	0	SRCIN1	33958934	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	8.735000	0.91549	2.002000	0.58637	0.454000	0.30748	TCC		0.652	SRCIN1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000441878.4	NM_025248		Missense_Mutation
SNRPB	6628	hgsc.bcm.edu	37	20	2446385	2446385	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1365-01	TCGA-04-1365-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-04-1365-01	TCGA-04-1365-10	g.chr20:2446385G>A	ENST00000438552.2	-	3	398	c.236C>T	c.(235-237)tCa>tTa	p.S79L	SNORD119_ENST00000515997.1_RNA|SNRPB_ENST00000339610.6_5'UTR|SNRPB_ENST00000381342.2_Missense_Mutation_p.S79L	NM_198216.1	NP_937859.1	P14678	RSMB_HUMAN	small nuclear ribonucleoprotein polypeptides B and B1	79			S -> P (in dbSNP:rs11545672).		gene expression (GO:0010467)|histone mRNA metabolic process (GO:0008334)|mRNA 3'-end processing (GO:0031124)|mRNA splicing, via spliceosome (GO:0000398)|ncRNA metabolic process (GO:0034660)|RNA metabolic process (GO:0016070)|RNA splicing (GO:0008380)|spliceosomal snRNP assembly (GO:0000387)|termination of RNA polymerase II transcription (GO:0006369)|transcription from RNA polymerase II promoter (GO:0006366)	catalytic step 2 spliceosome (GO:0071013)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|histone pre-mRNA 3'end processing complex (GO:0071204)|methylosome (GO:0034709)|nucleoplasm (GO:0005654)|small nuclear ribonucleoprotein complex (GO:0030532)|SMN-Sm protein complex (GO:0034719)|spliceosomal complex (GO:0005681)|U1 snRNP (GO:0005685)|U12-type spliceosomal complex (GO:0005689)|U4 snRNP (GO:0005687)|U7 snRNP (GO:0005683)	histone pre-mRNA DCP binding (GO:0071208)|poly(A) RNA binding (GO:0044822)	p.S79L(1)		kidney(1)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|urinary_tract(1)	10						TACTGTCATTGAGACCAGATT	0.532																																																1	Substitution - Missense(1)	ovary(1)	20											137.0	115.0	123.0					20																	2446385		2203	4300	6503	2394385	SO:0001583	missense	6628				CCDS13026.1, CCDS13027.1	20p13	2011-10-11			ENSG00000125835	ENSG00000125835			11153	protein-coding gene	gene with protein product		182282		SNRPB1		1376292	Standard	NM_003091		Approved	COD, SmB/SmB', Sm-B/B', snRNP-B	uc002wfz.1	P14678	OTTHUMG00000031694	ENST00000438552.2:c.236C>T	20.37:g.2446385G>A	ENSP00000412566:p.Ser79Leu	Somatic		Capture	SOLID	Phase_IV	2394385	Q15490|Q6IB35|Q9UIS5	Missense_Mutation	SNP	ENST00000438552.2	37	CCDS13026.1	SNP	45	Baylor	.	.	.	.	.	.	.	.	.	.	G	27.5	4.841024	0.91197	.	.	ENSG00000125835	ENST00000381342;ENST00000438552;ENST00000303103	T;T	0.36157	1.27;1.27	4.81	4.81	0.61882	Like-Sm ribonucleoprotein (LSM) domain, eukaryotic/archaea-type (1);Like-Sm ribonucleoprotein (LSM) domain (1);Like-Sm ribonucleoprotein (LSM)-related domain (1);	0.000000	0.85682	D	0.000000	T	0.39306	0.1073	L	0.45051	1.395	0.80722	D	1	P;P;P	0.45672	0.759;0.759;0.864	P;P;P	0.46339	0.513;0.513;0.513	T	0.35001	-0.9806	10	0.87932	D	0	.	15.4175	0.74983	0.0:0.0:1.0:0.0	.	79;79;79	B4DVS0;Q66K91;P14678	.;.;RSMB_HUMAN	L	79	ENSP00000370746:S79L;ENSP00000412566:S79L	ENSP00000303591:S79L	S	-	2	0	SNRPB	2394385	1.000000	0.71417	0.977000	0.42913	0.988000	0.76386	9.648000	0.98483	2.491000	0.84063	0.655000	0.94253	TCA		0.532	SNRPB-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000077585.2			Missense_Mutation
SNX7	51375	hgsc.bcm.edu	37	1	99161101	99161101	+	Missense_Mutation	SNP	C	C	T	rs376791566		TCGA-04-1365-01	TCGA-04-1365-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-04-1365-01	TCGA-04-1365-10	g.chr1:99161101C>T	ENST00000306121.3	+	5	676	c.667C>T	c.(667-669)Cct>Tct	p.P223S	SNX7_ENST00000370189.5_Missense_Mutation_p.P159S|SNX7_ENST00000529992.1_Missense_Mutation_p.P168S	NM_015976.4	NP_057060.2	Q9UNH6	SNX7_HUMAN	sorting nexin 7	159					apoptotic process (GO:0006915)|intracellular protein transport (GO:0006886)	cytoplasmic vesicle (GO:0031410)|endosome (GO:0005768)|membrane (GO:0016020)	phosphatidylinositol binding (GO:0035091)	p.P159S(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)	13		all_epithelial(167;7.64e-07)|all_lung(203;0.0006)|Lung NSC(277;0.00137)		Epithelial(280;0.0521)|all cancers(265;0.0687)|COAD - Colon adenocarcinoma(174;0.15)|Lung(183;0.207)|Colorectal(170;0.234)		GAAGCAAGGTCCTGGCTTGCT	0.418																																																1	Substitution - Missense(1)	ovary(1)	1											59.0	67.0	64.0					1																	99161101		2203	4300	6503	98933689	SO:0001583	missense	51375			AF121857	CCDS755.2, CCDS756.1, CCDS756.2	1p21	2008-05-22			ENSG00000162627	ENSG00000162627		"""Sorting nexins"""	14971	protein-coding gene	gene with protein product		614904					Standard	NM_015976		Approved		uc010ouc.2	Q9UNH6	OTTHUMG00000010723	ENST00000306121.3:c.667C>T	1.37:g.99161101C>T	ENSP00000304429:p.Pro223Ser	Somatic		Capture	SOLID	Phase_IV	98933689	A8KAF3|D3DT50|Q53FQ3|Q5VT09|Q5VT10|Q86U82|Q8WVD4|Q96FW9|Q9Y3Z7	Missense_Mutation	SNP	ENST00000306121.3	37	CCDS755.2	SNP	30	Baylor	.	.	.	.	.	.	.	.	.	.	C	11.18	1.564147	0.27915	.	.	ENSG00000162627	ENST00000370189;ENST00000529992;ENST00000306121	T;T;T	0.33654	1.49;2.29;1.4	5.66	5.66	0.87406	.	0.288387	0.39210	N	0.001431	T	0.42494	0.1205	L	0.48362	1.52	0.58432	D	0.999994	D;B;B	0.76494	0.999;0.113;0.113	D;B;B	0.68483	0.958;0.054;0.054	T	0.03423	-1.1038	10	0.14252	T	0.57	-21.9457	20.1041	0.97884	0.0:1.0:0.0:0.0	.	168;223;159	E9PNL2;Q9UNH6-3;Q9UNH6-2	.;.;.	S	159;168;223	ENSP00000359208:P159S;ENSP00000434731:P168S;ENSP00000304429:P223S	ENSP00000304429:P223S	P	+	1	0	SNX7	98933689	0.998000	0.40836	0.993000	0.49108	0.619000	0.37552	3.910000	0.56371	2.826000	0.97356	0.655000	0.94253	CCT		0.418	SNX7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029609.2			Missense_Mutation
TMPRSS2	7113	hgsc.bcm.edu	37	21	42840396	42840396	+	Missense_Mutation	SNP	T	T	A			TCGA-04-1365-01	TCGA-04-1365-10	T	T	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-04-1365-01	TCGA-04-1365-10	g.chr21:42840396T>A	ENST00000332149.5	-	12	1375	c.1241A>T	c.(1240-1242)tAt>tTt	p.Y414F	TMPRSS2_ENST00000398585.3_Missense_Mutation_p.Y451F|TMPRSS2_ENST00000458356.1_Missense_Mutation_p.Y414F	NM_005656.3	NP_005647.3	O15393	TMPS2_HUMAN	transmembrane protease, serine 2	414	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				positive regulation of viral entry into host cell (GO:0046598)|protein autoprocessing (GO:0016540)|proteolysis (GO:0006508)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)|serine-type peptidase activity (GO:0008236)	p.Y414F(3)	TMPRSS2/ETV1(34)|TMPRSS2/ETV5_ENST00000306376(5)|TMPRSS2/ERG(3582)|TMPRSS2/ETV4(13)	central_nervous_system(1)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	4		Prostate(19;4.48e-07)|all_epithelial(19;0.031)				GTCATAGACATATCTGCTGTT	0.488			T	"""ERG, ETV1, ETV4, ETV5"""	prostate																																		Dom	yes		21	21q22.3	7113	"""transmembrane protease, serine 2"""		E	3	Substitution - Missense(3)	ovary(3)	21											202.0	157.0	173.0					21																	42840396		2203	4300	6503	41762266	SO:0001583	missense	7113			U75329	CCDS33564.1, CCDS54486.1	21q22.3	2010-04-13			ENSG00000184012	ENSG00000184012		"""Serine peptidases / Transmembrane"""	11876	protein-coding gene	gene with protein product		602060				9325052	Standard	NM_005656		Approved	PRSS10	uc010gor.3	O15393	OTTHUMG00000086762	ENST00000332149.5:c.1241A>T	21.37:g.42840396T>A	ENSP00000330330:p.Tyr414Phe	Somatic		Capture	SOLID	Phase_IV	41762266	A8K6Z8|B2R8E5|B7Z459|D3DSJ2|F8WES1|Q6GTK7|Q9BXX1	Missense_Mutation	SNP	ENST00000332149.5	37	CCDS33564.1	SNP	49	Baylor	.	.	.	.	.	.	.	.	.	.	T	0.125	-1.121182	0.01785	.	.	ENSG00000184012	ENST00000332149;ENST00000398585;ENST00000458356;ENST00000454499	T;T;T;T	0.62232	0.04;0.04;0.04;0.04	5.33	-0.232	0.13082	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.599918	0.15901	N	0.239087	T	0.42743	0.1216	L	0.28400	0.85	0.09310	N	1	B;B	0.18013	0.009;0.025	B;B	0.27076	0.028;0.076	T	0.30357	-0.9981	10	0.10902	T	0.67	.	6.6277	0.22839	0.5256:0.0:0.136:0.3384	.	451;414	F8WES1;O15393	.;TMPS2_HUMAN	F	414;451;414;414	ENSP00000330330:Y414F;ENSP00000381588:Y451F;ENSP00000391216:Y414F;ENSP00000389006:Y414F	ENSP00000330330:Y414F	Y	-	2	0	TMPRSS2	41762266	0.000000	0.05858	0.000000	0.03702	0.008000	0.06430	-0.364000	0.07583	-0.279000	0.09167	0.533000	0.62120	TAT		0.488	TMPRSS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195189.1			Missense_Mutation
TP53	7157	hgsc.bcm.edu	37	17	7578555	7578555	+	Splice_Site	SNP	C	C	T			TCGA-04-1365-01	TCGA-04-1365-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-04-1365-01	TCGA-04-1365-10	g.chr17:7578555C>T	ENST00000269305.4	-	5	565		c.e5-1		TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000413465.2_Splice_Site	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53						apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(39)|p.0?(8)|p.V73fs*9(1)|p.Y126fs*11(1)|p.P13fs*18(1)|p.T125_Y126insX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	CAGGGGAGTACTGTAGGAAGA	0.552		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	51	Unknown(39)|Whole gene deletion(8)|Deletion - Frameshift(3)|Insertion - In frame(1)	ovary(9)|pancreas(6)|bone(5)|upper_aerodigestive_tract(4)|liver(4)|lung(4)|breast(4)|large_intestine(3)|central_nervous_system(3)|oesophagus(3)|haematopoietic_and_lymphoid_tissue(2)|stomach(1)|endometrium(1)|urinary_tract(1)|autonomic_ganglia(1)	17											42.0	42.0	42.0					17																	7578555		2203	4300	6503	7519280	SO:0001630	splice_region_variant	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.376-1G>A	17.37:g.7578555C>T		Somatic		Capture	SOLID	Phase_IV	7519280	Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site_SNP	SNP	ENST00000269305.4	37	CCDS11118.1	SNP	20	Baylor	.	.	.	.	.	.	.	.	.	.	C	17.60	3.431133	0.62844	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793;ENST00000503591	.	.	.	4.87	3.9	0.45041	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.4246	0.50003	0.0:0.9094:0.0:0.0906	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7519280	1.000000	0.71417	0.999000	0.59377	0.918000	0.54935	7.639000	0.83342	1.359000	0.45940	0.655000	0.94253	.		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	Splice_Site_SNP
TTN	7273	hgsc.bcm.edu	37	2	179645975	179645975	+	Nonsense_Mutation	SNP	G	G	T			TCGA-04-1365-01	TCGA-04-1365-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-04-1365-01	TCGA-04-1365-10	g.chr2:179645975G>T	ENST00000591111.1	-	21	3620	c.3396C>A	c.(3394-3396)taC>taA	p.Y1132*	TTN_ENST00000360870.5_Nonsense_Mutation_p.Y1132*|TTN_ENST00000342175.6_Nonsense_Mutation_p.Y1086*|TTN_ENST00000589042.1_Nonsense_Mutation_p.Y1132*|TTN_ENST00000342992.6_Nonsense_Mutation_p.Y1132*|RP11-88L24.4_ENST00000582038.2_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.Y1086*|TTN_ENST00000460472.2_Nonsense_Mutation_p.Y1086*			Q8WZ42	TITIN_HUMAN	titin	33349	Ig-like 4.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.Y1132*(2)|p.Y1086*(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTTGTTTGTTGTAACTCACTT	0.343																																																3	Substitution - Nonsense(3)	ovary(3)	2											209.0	183.0	192.0					2																	179645975		2203	4300	6503	179354220	SO:0001587	stop_gained	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.3396C>A	2.37:g.179645975G>T	ENSP00000465570:p.Tyr1132*	Somatic		Capture	SOLID	Phase_IV	179354220	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37		SNP	48	Baylor	.	.	.	.	.	.	.	.	.	.	G	41	9.147639	0.99080	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127;ENST00000360870	.	.	.	5.91	2.11	0.27256	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	10.0087	0.41972	0.4769:0.0:0.5231:0.0	.	.	.	.	X	1132;1086;1086;1086;1086;1132	.	ENSP00000340554:Y1086X	Y	-	3	2	TTN	179354220	1.000000	0.71417	0.998000	0.56505	0.636000	0.38137	1.280000	0.33202	0.106000	0.17784	-0.142000	0.14014	TAC		0.343	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		Nonsense_Mutation
TRIP12	9320	hgsc.bcm.edu	37	2	230668915	230668915	+	Missense_Mutation	SNP	A	A	T			TCGA-04-1365-01	TCGA-04-1365-10	A	A	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-04-1365-01	TCGA-04-1365-10	g.chr2:230668915A>T	ENST00000283943.5	-	18	2632	c.2454T>A	c.(2452-2454)gaT>gaA	p.D818E	TRIP12_ENST00000389045.3_Missense_Mutation_p.D548E|TRIP12_ENST00000543084.1_Intron|TRIP12_ENST00000389044.4_Missense_Mutation_p.D866E	NM_001284214.1|NM_004238.1	NP_001271143.1|NP_004229.1	Q14669	TRIPC_HUMAN	thyroid hormone receptor interactor 12	818	WWE. {ECO:0000255|PROSITE- ProRule:PRU00248}.				cellular response to DNA damage stimulus (GO:0006974)|DNA repair (GO:0006281)|embryo development (GO:0009790)|negative regulation of double-strand break repair (GO:2000780)|negative regulation of histone H2A K63-linked ubiquitination (GO:1901315)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ligase activity (GO:0016874)|thyroid hormone receptor binding (GO:0046966)|ubiquitin-protein transferase activity (GO:0004842)	p.D818E(1)		breast(2)|central_nervous_system(4)|cervix(1)|endometrium(5)|kidney(6)|large_intestine(19)|lung(32)|ovary(5)|prostate(4)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	87		Renal(207;0.025)|all_hematologic(139;0.122)|all_lung(227;0.126)|Acute lymphoblastic leukemia(138;0.164)		Epithelial(121;4.76e-13)|all cancers(144;4.34e-10)|LUSC - Lung squamous cell carcinoma(224;0.00864)|Lung(119;0.0116)		GTGCTCGAGCATCATCCTTCT	0.348																																																1	Substitution - Missense(1)	ovary(1)	2											77.0	86.0	83.0					2																	230668915		2203	4300	6503	230377159	SO:0001583	missense	9320			L40383	CCDS33391.1, CCDS63145.1, CCDS63146.1	2q36.3	2008-05-27			ENSG00000153827	ENSG00000153827			12306	protein-coding gene	gene with protein product		604506				7776974	Standard	XM_005246961		Approved	KIAA0045	uc002vpw.1	Q14669	OTTHUMG00000153623	ENST00000283943.5:c.2454T>A	2.37:g.230668915A>T	ENSP00000283943:p.Asp818Glu	Somatic		Capture	SOLID	Phase_IV	230377159	D4HL82|Q14CA3|Q14CF1|Q15644|Q53R87|Q53TE7	Missense_Mutation	SNP	ENST00000283943.5	37	CCDS33391.1	SNP	8	Baylor	.	.	.	.	.	.	.	.	.	.	A	21.9	4.214362	0.79352	.	.	ENSG00000153827	ENST00000283943;ENST00000389045;ENST00000389044	T;T;T	0.47177	0.85;1.26;0.85	5.82	2.28	0.28536	WWE domain (1);Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.49184	0.1542	L	0.37697	1.125	0.80722	D	1	D;D;D	0.58970	0.984;0.984;0.984	D;D;D	0.68192	0.956;0.956;0.956	T	0.39542	-0.9609	10	0.13108	T	0.6	.	8.1517	0.31145	0.7108:0.0:0.2892:0.0	.	548;866;818	Q14CF1;Q14CA3;Q14669	.;.;TRIPC_HUMAN	E	818;548;866	ENSP00000283943:D818E;ENSP00000373697:D548E;ENSP00000373696:D866E	ENSP00000283943:D818E	D	-	3	2	TRIP12	230377159	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.977000	0.40589	0.486000	0.27676	0.397000	0.26171	GAT		0.348	TRIP12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000331861.3	NM_004238		Missense_Mutation
ZFHX3	463	hgsc.bcm.edu	37	16	72992268	72992268	+	Nonsense_Mutation	SNP	C	C	A			TCGA-04-1365-01	TCGA-04-1365-10	C	C	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-04-1365-01	TCGA-04-1365-10	g.chr16:72992268C>A	ENST00000268489.5	-	2	2449	c.1777G>T	c.(1777-1779)Gaa>Taa	p.E593*	ZFHX3_ENST00000397992.5_Intron	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	593					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.E593*(1)		NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				TTGGCACTTTCGTCAGCGAAG	0.552																																																1	Substitution - Nonsense(1)	ovary(1)	16											110.0	104.0	106.0					16																	72992268		2198	4300	6498	71549769	SO:0001587	stop_gained	463			D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.1777G>T	16.37:g.72992268C>A	ENSP00000268489:p.Glu593*	Somatic		Capture	SOLID	Phase_IV	71549769	D3DWS8|O15101|Q13719	Nonsense_Mutation	SNP	ENST00000268489.5	37	CCDS10908.1	SNP	31	Baylor	.	.	.	.	.	.	.	.	.	.	C	44	11.061677	0.99510	.	.	ENSG00000140836	ENST00000268489	.	.	.	5.04	5.04	0.67666	.	0.000000	0.51477	D	0.000089	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.23891	T	0.37	.	18.7639	0.91864	0.0:1.0:0.0:0.0	.	.	.	.	X	593	.	ENSP00000268489:E593X	E	-	1	0	ZFHX3	71549769	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	7.398000	0.79919	2.505000	0.84491	0.650000	0.86243	GAA		0.552	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		Nonsense_Mutation
ZNF180	7733	hgsc.bcm.edu	37	19	45001361	45001361	+	Missense_Mutation	SNP	G	G	A			TCGA-04-1365-01	TCGA-04-1365-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-04-1365-01	TCGA-04-1365-10	g.chr19:45001361G>A	ENST00000221327.4	-	2	388	c.107C>T	c.(106-108)cCa>cTa	p.P36L	ZNF180_ENST00000391956.4_Missense_Mutation_p.P36L|ZNF180_ENST00000585514.1_5'UTR|ZNF180_ENST00000592529.1_Missense_Mutation_p.P9L|ZNF180_ENST00000586637.1_Nonsense_Mutation_p.Q5*|ZNF180_ENST00000587047.1_Nonsense_Mutation_p.Q38*	NM_013256.3	NP_037388.2	Q9UJW8	ZN180_HUMAN	zinc finger protein 180	36					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.P36L(1)		NS(1)|breast(1)|endometrium(3)|kidney(5)|large_intestine(14)|lung(6)|ovary(2)|urinary_tract(1)	33		Prostate(69;0.0435)				CGGGGGCTCTGGGGGCTTCTC	0.612																																					Esophageal Squamous(180;1353 2003 32862 46574 49854)											1	Substitution - Missense(1)	ovary(1)	19											41.0	39.0	40.0					19																	45001361		2203	4300	6503	49693201	SO:0001583	missense	7733			AF192913	CCDS12639.1, CCDS62707.1, CCDS62708.1	19q13.2	2013-01-08	2006-08-22			ENSG00000167384		"""Zinc fingers, C2H2-type"", ""-"""	12970	protein-coding gene	gene with protein product		606740	"""zinc finger protein 180 (HHZ168)"""				Standard	NM_001288762		Approved	HHZ168	uc002ozf.4	Q9UJW8		ENST00000221327.4:c.107C>T	19.37:g.45001361G>A	ENSP00000221327:p.Pro36Leu	Somatic		Capture	SOLID	Phase_IV	49693201	B2RCN6|B3KV56|K7EQX9|Q58F03|Q9P1U2	Missense_Mutation	SNP	ENST00000221327.4	37	CCDS12639.1	SNP	47	Baylor	.	.	.	.	.	.	.	.	.	.	G	13.54	2.267915	0.40095	.	.	ENSG00000167384	ENST00000221327;ENST00000391956	T;T	0.07688	3.23;3.17	3.74	-2.61	0.06171	.	.	.	.	.	T	0.03871	0.0109	N	0.14661	0.345	0.53688	A	0.999979	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.06405	0.002;0.001;0.001	T	0.42882	-0.9425	8	0.72032	D	0.01	0.1136	0.7119	0.00926	0.3088:0.1651:0.3572:0.1689	.	36;35;36	G5E9B8;Q58F03;Q9UJW8	.;.;ZN180_HUMAN	L	36	ENSP00000221327:P36L;ENSP00000375818:P36L	ENSP00000221327:P36L	P	-	2	0	ZNF180	49693201	0.042000	0.20092	0.010000	0.14722	0.560000	0.35617	-0.115000	0.10741	-0.321000	0.08627	0.655000	0.94253	CCA		0.612	ZNF180-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000451601.1	NM_013256		Missense_Mutation
ZNF354A	6940	hgsc.bcm.edu	37	5	178140242	178140242	+	Missense_Mutation	SNP	G	G	A	rs147805374	byFrequency	TCGA-04-1365-01	TCGA-04-1365-10	G	G	.	.	.	.	Unknown	Unknown	Somatic	Phase_I	WXS	Unknown	.	.	Illumina GAIIx	TCGA-04-1365-01	TCGA-04-1365-10	g.chr5:178140242G>A	ENST00000335815.2	-	5	834	c.637C>T	c.(637-639)Cgc>Tgc	p.R213C		NM_005649.2	NP_005640.2	O60765	Z354A_HUMAN	zinc finger protein 354A	213					regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|sensory perception of sound (GO:0007605)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R213C(1)		breast(1)|endometrium(2)|large_intestine(7)|lung(3)|ovary(2)|skin(2)|stomach(2)	19	all_cancers(89;0.000536)|Renal(175;0.000159)|all_epithelial(37;0.000221)|Lung NSC(126;0.00308)|all_lung(126;0.00536)	all_cancers(40;0.0452)|all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)	all cancers(165;0.185)		CATTTATAGCGTTTATCTGCT	0.333													G|||	2	0.000399361	0.0008	0.0	5008	,	,		20284	0.0		0.001	False		,,,				2504	0.0															1	Substitution - Missense(1)	ovary(1)	5						G	CYS/ARG	0,4404		0,0,2202	223.0	214.0	217.0		637	4.6	1.0	5	dbSNP_134	217	12,8588	9.1+/-34.3	0,12,4288	yes	missense	ZNF354A	NM_005649.2	180	0,12,6490	AA,AG,GG		0.1395,0.0,0.0923	probably-damaging	213/606	178140242	12,12992	2202	4300	6502	178072848	SO:0001583	missense	6940			AF116030	CCDS4438.1	5q35.3	2013-01-08		2001-11-23	ENSG00000169131	ENSG00000169131		"""Zinc fingers, C2H2-type"", ""-"""	11628	protein-coding gene	gene with protein product		602444		TCF17		9465904	Standard	NM_005649		Approved	KID-1, EZNF, HKL1, KID1	uc003mjj.3	O60765	OTTHUMG00000130895	ENST00000335815.2:c.637C>T	5.37:g.178140242G>A	ENSP00000337122:p.Arg213Cys	Somatic		Capture	SOLID	Phase_IV	178072848	Q9UNJ8	Missense_Mutation	SNP	ENST00000335815.2	37	CCDS4438.1	SNP	40	Baylor	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	17.17	3.321678	0.60634	0.0	0.001395	ENSG00000169131	ENST00000335815	T	0.15487	2.42	4.64	4.64	0.57946	Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.33496	N	0.004854	T	0.24236	0.0587	L	0.28400	0.85	0.58432	D	0.999996	D	0.76494	0.999	P	0.56088	0.791	T	0.00893	-1.1524	10	0.52906	T	0.07	-11.6452	15.3764	0.74607	0.0:0.0:1.0:0.0	.	213	O60765	Z354A_HUMAN	C	213	ENSP00000337122:R213C	ENSP00000337122:R213C	R	-	1	0	ZNF354A	178072848	1.000000	0.71417	0.994000	0.49952	0.634000	0.38068	3.918000	0.56432	2.561000	0.86390	0.655000	0.94253	CGC		0.333	ZNF354A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253481.1	NM_005649		Missense_Mutation
