#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_BAM_File	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_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_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_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
BAZ1B	9031	hgsc.bcm.edu	37	7	72883967	72883967	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr7:72883967A>G	ENST00000339594.4	-	9	3084	c.2746T>C	c.(2746-2748)Tca>Cca	p.S916P	BAZ1B_ENST00000404251.1_Missense_Mutation_p.S916P	NM_032408.3	NP_115784.1	Q9UIG0	BAZ1B_HUMAN	bromodomain adjacent to zinc finger domain, 1B	916					cellular response to DNA damage stimulus (GO:0006974)|chromatin assembly or disassembly (GO:0006333)|chromatin-mediated maintenance of transcription (GO:0048096)|double-strand break repair (GO:0006302)|heart morphogenesis (GO:0003007)|histone phosphorylation (GO:0016572)|peptidyl-tyrosine phosphorylation (GO:0018108)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed chromosome (GO:0000793)|nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|histone kinase activity (GO:0035173)|lysine-acetylated histone binding (GO:0070577)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)|vitamin D receptor activator activity (GO:0071884)|zinc ion binding (GO:0008270)			NS(1)|breast(5)|cervix(1)|endometrium(5)|kidney(5)|large_intestine(12)|lung(20)|ovary(5)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	61		Lung NSC(55;0.0659)|all_lung(88;0.152)				ACTTCATCTGAGAAGAGCCAG	0.398																																					Esophageal Squamous(112;1167 1561 21085 43672 48228)												0			7											150.0	132.0	138.0					7																	72883967		2203	4300	6503	72521903	SO:0001583	missense	9031			AF084479	CCDS5549.1	7q11.23	2013-01-28			ENSG00000009954	ENSG00000009954		"""Zinc fingers, PHD-type"""	961	protein-coding gene	gene with protein product	"""Williams-Beuren syndrome chromosome region 9"", ""Williams-Beuren syndrome chromosome region 10"", ""transcription factor WSTF"""	605681		WBSCR9, WBSCR10		9858827, 9828126	Standard	NM_032408		Approved	WSTF	uc003tyc.3	Q9UIG0	OTTHUMG00000023847	ENST00000339594.4:c.2746T>C	7.37:g.72883967A>G	ENSP00000342434:p.Ser916Pro	Somatic		Capture	Illumina HiSeq	Phase_I	72521903	B9EGK3|D3DXE9|O95039|O95247|O95277|Q6P1K4|Q86UJ6	Missense_Mutation	SNP	ENST00000339594.4	37	CCDS5549.1	.	.	.	.	.	.	.	.	.	.	A	17.56	3.421080	0.62622	.	.	ENSG00000009954	ENST00000339594;ENST00000404251	T;T	0.57273	0.41;0.41	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.58538	0.2129	L	0.27053	0.805	0.58432	D	0.999999	D	0.76494	0.999	D	0.80764	0.994	T	0.54111	-0.8342	10	0.20519	T	0.43	-13.4297	14.9817	0.71316	1.0:0.0:0.0:0.0	.	916	Q9UIG0	BAZ1B_HUMAN	P	916	ENSP00000342434:S916P;ENSP00000385442:S916P	ENSP00000342434:S916P	S	-	1	0	BAZ1B	72521903	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.754000	0.91642	2.144000	0.66660	0.460000	0.39030	TCA		BAZ1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252123.4	NM_032408	
PCLO	27445	hgsc.bcm.edu	37	7	82584540	82584540	+	Missense_Mutation	SNP	G	G	A	rs375287995		TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr7:82584540G>A	ENST00000333891.9	-	5	6066	c.5729C>T	c.(5728-5730)gCg>gTg	p.A1910V	PCLO_ENST00000423517.2_Missense_Mutation_p.A1910V	NM_033026.5	NP_149015.2			piccolo presynaptic cytomatrix protein											breast(3)|central_nervous_system(3)|cervix(5)|endometrium(19)|haematopoietic_and_lymphoid_tissue(3)|kidney(19)|large_intestine(35)|lung(145)|ovary(7)|prostate(4)|upper_aerodigestive_tract(14)|urinary_tract(2)	259						ACTTTTTAACGCCTTTTGGCT	0.343													G|||	1	0.000199681	0.0	0.0	5008	,	,		19185	0.0		0.001	False		,,,				2504	0.0																0			7						G	VAL/ALA,VAL/ALA	0,3748		0,0,1874	57.0	56.0	56.0		5729,5729	4.3	0.6	7		56	3,8193		0,3,4095	no	missense,missense	PCLO	NM_033026.5,NM_014510.2	64,64	0,3,5969	AA,AG,GG		0.0366,0.0,0.0251	benign,benign	1910/5143,1910/4936	82584540	3,11941	1874	4098	5972	82422476	SO:0001583	missense	27445			AB011131	CCDS47630.1, CCDS47631.1	7q11.23-q21.3	2013-01-07	2013-01-07		ENSG00000186472	ENSG00000186472			13406	protein-coding gene	gene with protein product	"""aczonin"""	604918	"""piccolo (presynaptic cytomatrix protein)"""			8900486, 9628581	Standard	NM_014510		Approved	KIAA0559, DKFZp779G1236, ACZ	uc003uhx.2	Q9Y6V0	OTTHUMG00000154853	ENST00000333891.9:c.5729C>T	7.37:g.82584540G>A	ENSP00000334319:p.Ala1910Val	Somatic		Capture	Illumina HiSeq	Phase_I	82422476		Missense_Mutation	SNP	ENST00000333891.9	37	CCDS47630.1	.	.	.	.	.	.	.	.	.	.	G	4.492	0.091311	0.08632	0.0	3.66E-4	ENSG00000186472	ENST00000431819;ENST00000333891;ENST00000423517	T;T	0.16073	2.38;2.37	5.38	4.3	0.51218	.	.	.	.	.	T	0.15565	0.0375	L	0.44542	1.39	0.09310	N	1	B;B	0.14805	0.011;0.011	B;B	0.09377	0.004;0.004	T	0.06552	-1.0820	9	0.87932	D	0	.	8.3819	0.32477	0.136:0.1465:0.7175:0.0	.	1910;1910	Q9Y6V0-5;Q9Y6V0-6	.;.	V	1841;1910;1910	ENSP00000334319:A1910V;ENSP00000388393:A1910V	ENSP00000334319:A1910V	A	-	2	0	PCLO	82422476	0.076000	0.21285	0.623000	0.29173	0.733000	0.41908	2.027000	0.41078	2.517000	0.84864	0.655000	0.94253	GCG		PCLO-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337368.5	NM_014510	
TRRAP	8295	hgsc.bcm.edu	37	7	98515222	98515222	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr7:98515222A>G	ENST00000359863.4	+	20	2751	c.2542A>G	c.(2542-2544)Acg>Gcg	p.T848A	TRRAP_ENST00000446306.3_Missense_Mutation_p.T847A|TRRAP_ENST00000355540.3_Missense_Mutation_p.T848A	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	848					chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			AGGCCTCAGGACGCTGGAGCT	0.577																																																	0			7											114.0	92.0	100.0					7																	98515222		2203	4300	6503	98353158	SO:0001583	missense	8295			AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.2542A>G	7.37:g.98515222A>G	ENSP00000352925:p.Thr848Ala	Somatic		Capture	Illumina HiSeq	Phase_I	98353158	A4D265|O75218|Q9Y631|Q9Y6H4	Missense_Mutation	SNP	ENST00000359863.4	37	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	A	28.0	4.878176	0.91664	.	.	ENSG00000196367	ENST00000359863;ENST00000355540;ENST00000446306	T;T	0.60171	0.21;0.21	5.6	5.6	0.85130	Armadillo-like helical (1);Armadillo-type fold (2);	0.000000	0.85682	D	0.000000	T	0.82190	0.4983	M	0.93978	3.48	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.85130	0.997;0.99;0.996	D	0.87140	0.2202	10	0.87932	D	0	.	15.7903	0.78350	1.0:0.0:0.0:0.0	.	848;562;848	Q9Y4A5-2;Q59FH1;Q9Y4A5	.;.;TRRAP_HUMAN	A	848;848;846	ENSP00000352925:T848A;ENSP00000347733:T848A	ENSP00000347733:T848A	T	+	1	0	TRRAP	98353158	1.000000	0.71417	0.996000	0.52242	0.882000	0.50991	9.339000	0.96797	2.139000	0.66308	0.379000	0.24179	ACG		TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496	
BRAF	673	hgsc.bcm.edu	37	7	140482872	140482872	+	Silent	SNP	T	T	C			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr7:140482872T>C	ENST00000288602.6	-	10	1323	c.1263A>G	c.(1261-1263)ggA>ggG	p.G421G		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	421					activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)		SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	CTCGCTGAGGTCCTGGAGATT	0.413		61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)			Dom	yes		7	7q34	673	v-raf murine sarcoma viral oncogene homolog B1	yes	E	0			7											83.0	77.0	79.0					7																	140482872		2203	4300	6503	140129341	SO:0001819	synonymous_variant	673	Familial Cancer Database	CFC, CFCS	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1263A>G	7.37:g.140482872T>C		Somatic		Capture	Illumina HiSeq	Phase_I	140129341	A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Silent	SNP	ENST00000288602.6	37	CCDS5863.1	.	.	.	.	.	.	.	.	.	.	T	10.81	1.454849	0.26161	.	.	ENSG00000157764	ENST00000496384	.	.	.	5.83	2.1	0.27182	.	.	.	.	.	T	0.43366	0.1244	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.22556	-1.0213	4	.	.	.	.	1.8921	0.03250	0.1205:0.2654:0.1251:0.489	.	.	.	.	G	29	.	.	D	-	2	0	BRAF	140129341	0.441000	0.25626	1.000000	0.80357	0.998000	0.95712	-0.363000	0.07593	0.115000	0.18071	0.533000	0.62120	GAC		BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333	
ZNF425	155054	hgsc.bcm.edu	37	7	148801353	148801353	+	Missense_Mutation	SNP	C	C	T			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr7:148801353C>T	ENST00000378061.2	-	4	1742	c.1610G>A	c.(1609-1611)cGa>cAa	p.R537Q		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	537					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			ATGCGCGCGTCGGCGGAAACT	0.612																																																	0			7											36.0	34.0	35.0					7																	148801353		2203	4300	6503	148432286	SO:0001583	missense	155054			AK056498	CCDS34773.1	7q36.1	2013-01-08			ENSG00000204947	ENSG00000204947		"""Zinc fingers, C2H2-type"", ""-"""	20690	protein-coding gene	gene with protein product							Standard	NM_001001661		Approved		uc003wfj.3	Q6IV72	OTTHUMG00000158971	ENST00000378061.2:c.1610G>A	7.37:g.148801353C>T	ENSP00000367300:p.Arg537Gln	Somatic		Capture	Illumina HiSeq	Phase_I	148432286	B3KPM1|Q08AG3	Missense_Mutation	SNP	ENST00000378061.2	37	CCDS34773.1	.	.	.	.	.	.	.	.	.	.	C	8.543	0.873758	0.17322	.	.	ENSG00000204947	ENST00000378061	T	0.15017	2.46	3.02	-0.383	0.12477	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.06872	0.0175	N	0.17345	0.48	0.09310	N	1	B	0.27791	0.189	B	0.12837	0.008	T	0.39840	-0.9594	9	0.10111	T	0.7	.	4.1062	0.10038	0.5432:0.3244:0.0:0.1324	.	537	Q6IV72	ZN425_HUMAN	Q	537	ENSP00000367300:R537Q	ENSP00000367300:R537Q	R	-	2	0	ZNF425	148432286	0.000000	0.05858	0.000000	0.03702	0.040000	0.13550	-3.430000	0.00473	0.124000	0.18369	0.655000	0.94253	CGA		ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352726.1	XM_088140	
PAXIP1	22976	hgsc.bcm.edu	37	7	154760440	154760440	+	Missense_Mutation	SNP	A	A	G	rs550122265	byFrequency	TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr7:154760440A>G	ENST00000404141.1	-	7	1625	c.1471T>C	c.(1471-1473)Ttt>Ctt	p.F491L	PAXIP1_ENST00000397192.1_Missense_Mutation_p.F491L|PAXIP1_ENST00000473219.1_5'UTR			Q6ZW49	PAXI1_HUMAN	PAX interacting (with transcription-activation domain) protein 1	491	Gln-rich.			Missing (in Ref. 4; AAB91434). {ECO:0000305}.	adipose tissue development (GO:0060612)|chorion development (GO:0060717)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|endothelial cell migration (GO:0043542)|histone H3-K4 methylation (GO:0051568)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone H3-K36 methylation (GO:0000416)|positive regulation of histone H3-K4 methylation (GO:0051571)|positive regulation of isotype switching (GO:0045830)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|response to ionizing radiation (GO:0010212)|transcription, DNA-templated (GO:0006351)|vasculogenesis (GO:0001570)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)				NS(1)|breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	33	all_neural(206;0.119)	all_hematologic(28;0.0592)	OV - Ovarian serous cystadenocarcinoma(82;0.0296)	UCEC - Uterine corpus endometrioid carcinoma (81;0.178)		tgctgctgaaagggctggagc	0.597																																																	0			7											31.0	37.0	35.0					7																	154760440		1807	3276	5083	154391373	SO:0001583	missense	22976			U80735	CCDS47753.1	7q36	2007-07-06	2005-04-05	2005-04-05	ENSG00000157212	ENSG00000157212			8624	protein-coding gene	gene with protein product		608254	"""PAX transcription activation domain interacting protein 1 like"""	PAXIP1L		9225980	Standard	XM_005249539		Approved	CAGF29, CAGF28, TNRC2, PTIP	uc022aqf.1	Q6ZW49	OTTHUMG00000151322	ENST00000404141.1:c.1471T>C	7.37:g.154760440A>G	ENSP00000384048:p.Phe491Leu	Somatic		Capture	Illumina HiSeq	Phase_I	154391373	O15404|Q6N099|Q6ZWH9|Q7Z315|Q86UN0|Q8N4P9|Q96HP2	Missense_Mutation	SNP	ENST00000404141.1	37	CCDS47753.1	.	.	.	.	.	.	.	.	.	.	A	3.265	-0.150294	0.06585	.	.	ENSG00000157212	ENST00000404141;ENST00000397192;ENST00000323199	D;D	0.89485	-2.52;-2.52	4.66	3.51	0.40186	.	0.000000	0.36066	U	0.002815	T	0.73024	0.3534	N	0.11201	0.11	0.24176	N	0.9956	B;B;B;B	0.02656	0.0;0.0;0.0;0.0	B;B;B;B	0.06405	0.001;0.002;0.001;0.001	T	0.55780	-0.8087	10	0.10377	T	0.69	-5.7397	6.5946	0.22666	0.7961:0.0:0.2039:0.0	.	444;400;457;491	B4DEQ6;Q6ZW49-3;Q6ZW49-1;Q6ZW49	.;.;.;PAXI1_HUMAN	L	491;491;444	ENSP00000384048:F491L;ENSP00000380376:F491L	ENSP00000319149:F444L	F	-	1	0	PAXIP1	154391373	0.974000	0.33945	0.106000	0.21319	0.868000	0.49771	2.004000	0.40854	0.645000	0.30675	0.528000	0.53228	TTT		PAXIP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322223.1	NM_007349	
ANGPT4	51378	hgsc.bcm.edu	37	20	853640	853640	+	Missense_Mutation	SNP	C	C	T			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr20:853640C>T	ENST00000381922.3	-	9	1577	c.1475G>A	c.(1474-1476)cGt>cAt	p.R492H	ANGPT4_ENST00000546022.1_3'UTR	NM_015985.2	NP_057069.1	Q9Y264	ANGP4_HUMAN	angiopoietin 4	492	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cellular response to hypoxia (GO:0071456)|leukocyte migration (GO:0050900)|negative regulation of angiogenesis (GO:0016525)|negative regulation of apoptotic process (GO:0043066)|negative regulation of blood vessel endothelial cell migration (GO:0043537)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(12)|ovary(2)|prostate(1)	27						GCGAGAGGCACGCAGTGAGTA	0.572																																					Pancreas(181;481 2077 3259 31286 49856)												0			20											134.0	118.0	123.0					20																	853640		2203	4300	6503	801640	SO:0001583	missense	51378			AF074332	CCDS13009.1	20p13	2013-02-06			ENSG00000101280	ENSG00000101280		"""Fibrinogen C domain containing"""	487	protein-coding gene	gene with protein product		603705				10051567, 10218486	Standard	NM_015985		Approved		uc002wei.3	Q9Y264	OTTHUMG00000031652	ENST00000381922.3:c.1475G>A	20.37:g.853640C>T	ENSP00000371347:p.Arg492His	Somatic		Capture	Illumina HiSeq	Phase_I	801640	B4E3J9|Q5TFF4|Q9H4Z4	Missense_Mutation	SNP	ENST00000381922.3	37	CCDS13009.1	.	.	.	.	.	.	.	.	.	.	C	12.94	2.089882	0.36855	.	.	ENSG00000101280	ENST00000381922	T	0.21543	2.0	4.25	3.29	0.37713	Fibrinogen, alpha/beta/gamma chain, C-terminal globular (4);Fibrinogen, alpha/beta/gamma chain, C-terminal globular, subdomain 2 (1);	0.074260	0.53938	N	0.000050	T	0.17619	0.0423	L	0.56769	1.78	0.80722	D	1	P	0.47962	0.903	B	0.39027	0.288	T	0.02728	-1.1118	10	0.59425	D	0.04	.	5.1263	0.14886	0.0:0.6414:0.0:0.3586	.	492	Q9Y264	ANGP4_HUMAN	H	492	ENSP00000371347:R492H	ENSP00000371347:R492H	R	-	2	0	ANGPT4	801640	0.967000	0.33354	0.771000	0.31576	0.622000	0.37654	2.153000	0.42282	0.979000	0.38497	0.491000	0.48974	CGT		ANGPT4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077493.1	NM_015985	
ASXL1	171023	hgsc.bcm.edu	37	20	31019464	31019464	+	Missense_Mutation	SNP	C	C	T			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr20:31019464C>T	ENST00000375687.4	+	10	1385	c.961C>T	c.(961-963)Cgg>Tgg	p.R321W	ASXL1_ENST00000306058.5_Missense_Mutation_p.R316W	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	321	Interaction with KDM1A. {ECO:0000250}.|Interaction with NCOA1. {ECO:0000250}.				bone development (GO:0060348)|monoubiquitinated histone H2A deubiquitination (GO:0035522)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of peroxisome proliferator activated receptor signaling pathway (GO:0035359)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of retinoic acid receptor signaling pathway (GO:0048386)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to retinoic acid (GO:0032526)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nuclear chromatin (GO:0000790)|PR-DUB complex (GO:0035517)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|peroxisome proliferator activated receptor binding (GO:0042975)|retinoic acid receptor binding (GO:0042974)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(655)|kidney(5)|large_intestine(18)|liver(1)|lung(27)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	722						TCAGAGCTGGCGGGAGCGCCT	0.542			"""F, N, Mis"""		"""MDS, CMML"""																																			Rec	yes		20	20q11.1	171023	additional sex combs like 1		L	0			20											54.0	55.0	54.0					20																	31019464		2203	4300	6503	30483125	SO:0001583	missense	171023			AJ438952	CCDS13201.1	20q11	2014-09-17	2014-06-17		ENSG00000171456	ENSG00000171456			18318	protein-coding gene	gene with protein product		612990	"""additional sex combs like 1 (Drosophila)"""			12657473	Standard	NM_015338		Approved	KIAA0978	uc002wxs.3	Q8IXJ9	OTTHUMG00000032218	ENST00000375687.4:c.961C>T	20.37:g.31019464C>T	ENSP00000364839:p.Arg321Trp	Somatic		Capture	Illumina HiSeq	Phase_I	30483125	B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Missense_Mutation	SNP	ENST00000375687.4	37	CCDS13201.1	.	.	.	.	.	.	.	.	.	.	C	18.62	3.664004	0.67700	.	.	ENSG00000171456	ENST00000358956;ENST00000375687;ENST00000421155;ENST00000412498;ENST00000306058;ENST00000553345	T;T	0.20200	2.09;2.09	5.27	1.98	0.26296	.	0.053822	0.64402	D	0.000001	T	0.41719	0.1171	M	0.64404	1.975	0.53005	D	0.999968	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.998	T	0.43147	-0.9409	10	0.87932	D	0	-15.6676	13.7913	0.63143	0.4889:0.5111:0.0:0.0	.	316;321	A6NIZ6;Q8IXJ9	.;ASXL1_HUMAN	W	321;321;321;260;316;93	ENSP00000364839:R321W;ENSP00000305119:R316W	ENSP00000305119:R316W	R	+	1	2	ASXL1	30483125	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.953000	0.40352	0.755000	0.32990	0.650000	0.86243	CGG		ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338	
GDF5	8200	hgsc.bcm.edu	37	20	34025243	34025243	+	Nonsense_Mutation	SNP	G	G	A			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr20:34025243G>A	ENST00000374372.1	-	3	969	c.466C>T	c.(466-468)Cga>Tga	p.R156*	GDF5_ENST00000374369.3_Nonsense_Mutation_p.R156*			P43026	GDF5_HUMAN	growth differentiation factor 5	156					cell-cell signaling (GO:0007267)|chondrocyte differentiation (GO:0002062)|embryonic limb morphogenesis (GO:0030326)|extracellular matrix organization (GO:0030198)|forelimb morphogenesis (GO:0035136)|growth (GO:0040007)|hindlimb morphogenesis (GO:0035137)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mesenchymal cell apoptotic process (GO:2001054)|negative regulation of neuron apoptotic process (GO:0043524)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuron differentiation (GO:0045666)|regulation of multicellular organism growth (GO:0040014)|transforming growth factor beta receptor signaling pathway (GO:0007179)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	growth factor activity (GO:0008083)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(9)|skin(3)	26	Lung NSC(9;0.00642)|all_lung(11;0.0094)		BRCA - Breast invasive adenocarcinoma(18;0.00663)			TTGGGCTCTCGTGGGGGCCCG	0.632																																																	0			20											49.0	55.0	53.0					20																	34025243		2203	4300	6503	33488657	SO:0001587	stop_gained	8200			X80915	CCDS13254.1	20q11.2	2008-05-22	2007-04-12		ENSG00000125965	ENSG00000125965			4220	protein-coding gene	gene with protein product	"""cartilage-derived morphogenetic protein-1"""	601146				9288091, 9288098	Standard	NM_000557		Approved	CDMP1, BMP14	uc002xck.1	P43026	OTTHUMG00000032341	ENST00000374372.1:c.466C>T	20.37:g.34025243G>A	ENSP00000363492:p.Arg156*	Somatic		Capture	Illumina HiSeq	Phase_I	33488657	E1P5Q2|Q96SB1	Nonsense_Mutation	SNP	ENST00000374372.1	37	CCDS13254.1	.	.	.	.	.	.	.	.	.	.	G	27.0	4.787004	0.90367	.	.	ENSG00000125965	ENST00000374369;ENST00000374372	.	.	.	4.48	3.46	0.39613	.	0.355112	0.22460	N	0.059777	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	9.9315	0.41525	0.0:0.0:0.5838:0.4162	.	.	.	.	X	156	.	ENSP00000363489:R156X	R	-	1	2	GDF5	33488657	1.000000	0.71417	0.998000	0.56505	0.087000	0.18053	4.338000	0.59316	2.304000	0.77564	0.313000	0.20887	CGA		GDF5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078875.2		
KCNB1	3745	hgsc.bcm.edu	37	20	48098748	48098748	+	Silent	SNP	G	G	A			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr20:48098748G>A	ENST00000371741.4	-	1	436	c.270C>T	c.(268-270)ggC>ggT	p.G90G		NM_004975.2	NP_004966.1	Q14721	KCNB1_HUMAN	potassium voltage-gated channel, Shab-related subfamily, member 1	90					energy reserve metabolic process (GO:0006112)|protein homooligomerization (GO:0051260)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	dendrite (GO:0030425)|dendrite membrane (GO:0032590)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|voltage-gated potassium channel complex (GO:0008076)	delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)	p.G90G(1)		central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(22)|pancreas(2)|prostate(7)|skin(4)|stomach(1)|urinary_tract(1)	53			BRCA - Breast invasive adenocarcinoma(12;0.000405)|COAD - Colon adenocarcinoma(4;0.14)|Colorectal(8;0.166)		Dalfampridine(DB06637)	AGGTGAAGGCGCCCGGGTGGC	0.607																																																	1	Substitution - coding silent(1)	lung(1)	20											48.0	38.0	42.0					20																	48098748		2203	4300	6503	47532155	SO:0001819	synonymous_variant	3745			AF026005	CCDS13418.1	20q13.2	2012-07-05			ENSG00000158445	ENSG00000158445		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6231	protein-coding gene	gene with protein product		600397				7774931, 16382104	Standard	NM_004975		Approved	Kv2.1	uc002xur.1	Q14721	OTTHUMG00000033051	ENST00000371741.4:c.270C>T	20.37:g.48098748G>A		Somatic		Capture	Illumina HiSeq	Phase_I	47532155	Q14193	Silent	SNP	ENST00000371741.4	37	CCDS13418.1																																																																																				KCNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080374.3	NM_004975	
SNAI1	6615	hgsc.bcm.edu	37	20	48604411	48604411	+	Missense_Mutation	SNP	G	G	A			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr20:48604411G>A	ENST00000244050.2	+	3	674	c.613G>A	c.(613-615)Gag>Aag	p.E205K		NM_005985.3	NP_005976.2	O95863	SNAI1_HUMAN	snail family zinc finger 1	205	Required for nuclear localization and interaction with KPNB1, NOTCH1 and PARP1.				cartilage morphogenesis (GO:0060536)|cell migration (GO:0016477)|epithelial to mesenchymal transition (GO:0001837)|hair follicle morphogenesis (GO:0031069)|left/right pattern formation (GO:0060972)|mesoderm formation (GO:0001707)|negative regulation of cell differentiation involved in embryonic placenta development (GO:0060806)|negative regulation of DNA damage response, signal transduction by p53 class mediator (GO:0043518)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of vitamin D biosynthetic process (GO:0010957)|Notch signaling involved in heart development (GO:0061314)|osteoblast differentiation (GO:0001649)|palate development (GO:0060021)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of tight junction assembly (GO:2000810)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	kinase binding (GO:0019900)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)	p.E205*(1)		breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(10)|ovary(2)	17			BRCA - Breast invasive adenocarcinoma(9;4.03e-06)			CTCCCCAGGCGAGAAGCCCTT	0.622																																																	1	Substitution - Nonsense(1)	lung(1)	20											75.0	67.0	69.0					20																	48604411		2203	4300	6503	48037818	SO:0001583	missense	6615			AF125377	CCDS13423.1	20q13.2	2013-05-23	2013-05-23		ENSG00000124216	ENSG00000124216		"""Snail homologs"", ""Zinc fingers, C2H2-type"""	11128	protein-coding gene	gene with protein product		604238	"""snail 1 (drosophila homolog), zinc finger protein"", ""snail homolog 1 (Drosophila)"""			10585766	Standard	NM_005985		Approved	SNA, SLUGH2, SNAH, SNAIL1, SNAIL	uc002xuz.3	O95863	OTTHUMG00000033048	ENST00000244050.2:c.613G>A	20.37:g.48604411G>A	ENSP00000244050:p.Glu205Lys	Somatic		Capture	Illumina HiSeq	Phase_I	48037818	B2R842|Q9P113|Q9UBP7|Q9UHH7	Missense_Mutation	SNP	ENST00000244050.2	37	CCDS13423.1	.	.	.	.	.	.	.	.	.	.	G	35	5.420325	0.96111	.	.	ENSG00000124216	ENST00000244050	T	0.24350	1.86	4.96	4.96	0.65561	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.52645	0.1747	M	0.69523	2.12	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.56980	-0.7889	10	0.87932	D	0	-28.8275	18.5926	0.91218	0.0:0.0:1.0:0.0	.	205	O95863	SNAI1_HUMAN	K	205	ENSP00000244050:E205K	ENSP00000244050:E205K	E	+	1	0	SNAI1	48037818	1.000000	0.71417	0.964000	0.40570	0.805000	0.45488	9.420000	0.97426	2.462000	0.83206	0.455000	0.32223	GAG		SNAI1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080350.1		
OGFR	11054	hgsc.bcm.edu	37	20	61444569	61444569	+	Silent	SNP	A	A	G	rs3204348		TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr20:61444569A>G	ENST00000290291.6	+	7	1627	c.1602A>G	c.(1600-1602)ccA>ccG	p.P534P	OGFR_ENST00000370461.1_Silent_p.P482P	NM_007346.2	NP_031372.2	Q9NZT2	OGFR_HUMAN	opioid growth factor receptor	534	7 X 20 AA approximate tandem repeats of [ST]-P-S-E-T-P-G-P-[SR]-P-A-G-P-[AT]- [GR]-D-E-P-A-[EK].				opioid receptor signaling pathway (GO:0038003)|regulation of cell growth (GO:0001558)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	opioid receptor activity (GO:0004985)			endometrium(2)|kidney(1)|lung(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	17	Breast(26;3.65e-08)					GGGACGAGCCAGCCGAGAGCC	0.721																																																	0			20											11.0	17.0	15.0					20																	61444569		2124	4201	6325	60915014	SO:0001819	synonymous_variant	11054			AF109134	CCDS13504.1	20q13.3	2008-05-02			ENSG00000060491	ENSG00000060491			15768	protein-coding gene	gene with protein product		606459				10677613	Standard	NM_007346		Approved	7-60	uc002ydj.3	Q9NZT2	OTTHUMG00000032937	ENST00000290291.6:c.1602A>G	20.37:g.61444569A>G		Somatic		Capture	Illumina HiSeq	Phase_I	60915014	O96029|Q4VXW5|Q96CM2|Q9BQW1|Q9H4H0|Q9H7J5|Q9NZT3|Q9NZT4	Silent	SNP	ENST00000290291.6	37	CCDS13504.1																																																																																				OGFR-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080067.1		
TFIP11	24144	hgsc.bcm.edu	37	22	26894921	26894921	+	Silent	SNP	C	C	T			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr22:26894921C>T	ENST00000407690.1	-	10	1633	c.1350G>A	c.(1348-1350)gaG>gaA	p.E450E	TFIP11_ENST00000496523.1_5'Flank|TFIP11_ENST00000407148.1_Silent_p.E450E|TFIP11_ENST00000407431.1_Silent_p.E450E|TFIP11_ENST00000405938.1_Silent_p.E450E	NM_012143.2	NP_036275.1	Q9UBB9	TFP11_HUMAN	tuftelin interacting protein 11	450					biomineral tissue development (GO:0031214)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|RNA processing (GO:0006396)|spliceosomal complex disassembly (GO:0000390)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|nuclear speck (GO:0016607)|proteinaceous extracellular matrix (GO:0005578)|spliceosomal complex (GO:0005681)|U2-type post-mRNA release spliceosomal complex (GO:0071008)	DNA binding (GO:0003677)			breast(1)|endometrium(5)|kidney(2)|large_intestine(5)|liver(1)|lung(7)|prostate(2)|skin(1)|urinary_tract(1)	25						TAGAGATGATCTCGGTGCCAT	0.557																																																	0			22											159.0	152.0	155.0					22																	26894921		2203	4300	6503	25224921	SO:0001819	synonymous_variant	24144			AL050258	CCDS13838.1	22q12.1	2013-01-28			ENSG00000100109	ENSG00000100109		"""G patch domain containing"""	17165	protein-coding gene	gene with protein product		612747				10806191, 11230166	Standard	NM_012143		Approved	TIP39, DKFZP434B194, Spp382	uc003acs.2	Q9UBB9	OTTHUMG00000150883	ENST00000407690.1:c.1350G>A	22.37:g.26894921C>T		Somatic		Capture	Illumina HiSeq	Phase_I	25224921	O95908|Q20WL0|Q5H8V8|Q9UGV7|Q9Y2Q8	Silent	SNP	ENST00000407690.1	37	CCDS13838.1																																																																																				TFIP11-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320750.1	NM_001008697	
EFCAB6	64800	hgsc.bcm.edu	37	22	43950910	43950910	+	Missense_Mutation	SNP	C	C	T	rs376390055		TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr22:43950910C>T	ENST00000262726.7	-	27	3740	c.3487G>A	c.(3487-3489)Gac>Aac	p.D1163N	EFCAB6_ENST00000396231.2_Missense_Mutation_p.D1011N|EFCAB6_ENST00000461800.1_5'UTR	NM_022785.3	NP_073622.2	Q5THR3	EFCB6_HUMAN	EF-hand calcium binding domain 6	1163					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	calcium ion binding (GO:0005509)			breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(16)|lung(25)|ovary(4)|pancreas(1)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	68		Ovarian(80;0.0247)|all_neural(38;0.025)				ATGTCTCTGTCGGCTGTGGCC	0.507																																																	0			22						C	ASN/ASP,ASN/ASP	1,4405	2.1+/-5.4	0,1,2202	96.0	88.0	91.0		3487,3031	-9.8	0.0	22		91	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	EFCAB6	NM_022785.3,NM_198856.2	23,23	0,2,6501	TT,TC,CC		0.0116,0.0227,0.0154	benign,benign	1163/1502,1011/1350	43950910	2,13004	2203	4300	6503	42282243	SO:0001583	missense	64800			Z82201	CCDS14049.1, CCDS14050.1	22q13.2	2013-01-10			ENSG00000186976	ENSG00000186976		"""EF-hand domain containing"""	24204	protein-coding gene	gene with protein product						11258795, 12612053	Standard	NM_022785		Approved	FLJ23588, DJBP, HSCBCIP1, KIAA1672, dJ185D5.1	uc003bdy.2	Q5THR3	OTTHUMG00000150522	ENST00000262726.7:c.3487G>A	22.37:g.43950910C>T	ENSP00000262726:p.Asp1163Asn	Somatic		Capture	Illumina HiSeq	Phase_I	42282243	A8K8P6|A8K8Y3|B0QYI4|B0QYI6|Q5U5T6|Q9BY88|Q9H5C4|Q9NSF5	Missense_Mutation	SNP	ENST00000262726.7	37	CCDS14049.1	.	.	.	.	.	.	.	.	.	.	C	2.699	-0.271462	0.05716	2.27E-4	1.16E-4	ENSG00000186976	ENST00000396231;ENST00000262726	T;T	0.13901	2.55;2.56	4.88	-9.75	0.00506	.	3.661370	0.00447	N	0.000090	T	0.02571	0.0078	N	0.00538	-1.39	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.38478	-0.9659	10	0.17832	T	0.49	0.6795	2.2884	0.04132	0.325:0.3146:0.2467:0.1137	.	1011;1163	Q5THR3-2;Q5THR3	.;EFCB6_HUMAN	N	1011;1163	ENSP00000379533:D1011N;ENSP00000262726:D1163N	ENSP00000262726:D1163N	D	-	1	0	EFCAB6	42282243	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.741000	0.04855	-2.857000	0.00329	-1.021000	0.02439	GAC		EFCAB6-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353176.1	NM_022785	
SERPINA12	145264	hgsc.bcm.edu	37	14	94964309	94964309	+	Silent	SNP	C	C	T			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr14:94964309C>T	ENST00000341228.2	-	3	1221	c.426G>A	c.(424-426)caG>caA	p.Q142Q	SERPINA12_ENST00000556881.1_Silent_p.Q142Q	NM_173850.2	NP_776249.1	Q8IW75	SPA12_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12	142			Q -> K (in dbSNP:rs17090972).		negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)	extracellular space (GO:0005615)	serine-type endopeptidase inhibitor activity (GO:0004867)			breast(1)|central_nervous_system(2)|endometrium(2)|kidney(3)|large_intestine(7)|lung(11)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	33				COAD - Colon adenocarcinoma(157;0.235)		GCTGCAGCCTCTGGTCAATGA	0.468																																																	0			14											128.0	125.0	126.0					14																	94964309		2203	4300	6503	94034062	SO:0001819	synonymous_variant	145264			AY177692	CCDS9926.1	14q32.13	2014-02-21	2005-08-18		ENSG00000165953	ENSG00000165953		"""Serine (or cysteine) peptidase inhibitors"""	18359	protein-coding gene	gene with protein product			"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 12"""			24172014	Standard	NM_173850		Approved	OL-64, Vaspin	uc001ydj.3	Q8IW75	OTTHUMG00000171349	ENST00000341228.2:c.426G>A	14.37:g.94964309C>T		Somatic		Capture	Illumina HiSeq	Phase_I	94034062		Silent	SNP	ENST00000341228.2	37	CCDS9926.1																																																																																				SERPINA12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413097.1	NM_173850	
PRSS57	400668	hgsc.bcm.edu	37	19	691933	691933	+	Silent	SNP	C	C	T			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr19:691933C>T	ENST00000329267.7	-	3	335	c.306G>A	c.(304-306)gtG>gtA	p.V102V		NM_214710.3	NP_999875	Q6UWY2	PRS57_HUMAN	protease, serine, 57	102	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|lung(5)	6						CGATGCCAAACACCTGCTGGG	0.672																																																	0			19											90.0	59.0	69.0					19																	691933		2203	4300	6503	642933	SO:0001819	synonymous_variant	400668			AY358594	CCDS12041.1	19p13.3	2012-03-26	2011-03-07	2011-03-07		ENSG00000185198		"""Serine peptidases / Serine peptidases"""	31397	protein-coding gene	gene with protein product			"""protease, serine-like 1"""	PRSSL1		12975309	Standard	NM_214710		Approved	UNQ782	uc002lpl.1	Q6UWY2		ENST00000329267.7:c.306G>A	19.37:g.691933C>T		Somatic		Capture	Illumina HiSeq	Phase_I	642933	B2RNW8	Silent	SNP	ENST00000329267.7	37	CCDS12041.1																																																																																				PRSS57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452480.2	NM_214710	
MUC16	94025	hgsc.bcm.edu	37	19	9049229	9049229	+	Missense_Mutation	SNP	G	G	A	rs370847991		TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr19:9049229G>A	ENST00000397910.4	-	5	32605	c.32402C>T	c.(32401-32403)gCg>gTg	p.A10801V		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	10803	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TGTCTTTGCCGCCAAACTGGT	0.502																																																	0			19							VAL/ALA	0,3956		0,0,1978	174.0	159.0	164.0		32402	-5.0	0.0	19		164	1,8333		0,1,4166	no	missense	MUC16	NM_024690.2	64	0,1,6144	AA,AG,GG		0.012,0.0,0.0081	benign	10801/14508	9049229	1,12289	1978	4167	6145	8910229	SO:0001583	missense	94025			AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.32402C>T	19.37:g.9049229G>A	ENSP00000381008:p.Ala10801Val	Somatic		Capture	Illumina HiSeq	Phase_I	8910229	Q6ZQW5|Q96RK2	Missense_Mutation	SNP	ENST00000397910.4	37	CCDS54212.1	.	.	.	.	.	.	.	.	.	.	g	8.348	0.830163	0.16749	0.0	1.2E-4	ENSG00000181143	ENST00000397910	T	0.02709	4.19	2.86	-4.99	0.03010	.	.	.	.	.	T	0.01287	0.0042	N	0.08118	0	.	.	.	B	0.25521	0.128	B	0.14578	0.011	T	0.47018	-0.9149	8	0.87932	D	0	.	1.0837	0.01648	0.1634:0.2854:0.3273:0.2239	.	10801	B5ME49	.	V	10801	ENSP00000381008:A10801V	ENSP00000381008:A10801V	A	-	2	0	MUC16	8910229	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.244000	0.02902	-0.758000	0.04690	-0.629000	0.03991	GCG		MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690	
DNMT1	1786	hgsc.bcm.edu	37	19	10250808	10250808	+	Silent	SNP	C	C	G			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr19:10250808C>G	ENST00000340748.4	-	32	3907	c.3672G>C	c.(3670-3672)ccG>ccC	p.P1224P	DNMT1_ENST00000589538.1_Intron|DNMT1_ENST00000359526.4_Silent_p.P1240P|DNMT1_ENST00000540357.1_Silent_p.P1224P			P26358	DNMT1_HUMAN	DNA (cytosine-5-)-methyltransferase 1	1224	Catalytic.|Interaction with the PRC2/EED-EZH2 complex. {ECO:0000250}.|SAM-dependent MTase C5-type. {ECO:0000255|PROSITE-ProRule:PRU01016}.				cellular response to amino acid stimulus (GO:0071230)|chromatin modification (GO:0016568)|DNA methylation (GO:0006306)|gene silencing (GO:0016458)|maintenance of DNA methylation (GO:0010216)|negative regulation of histone H3-K9 methylation (GO:0051573)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of gene expression (GO:0010628)|positive regulation of histone H3-K4 methylation (GO:0051571)|regulation of cell proliferation (GO:0042127)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|pericentric heterochromatin (GO:0005721)|replication fork (GO:0005657)	chromatin binding (GO:0003682)|DNA (cytosine-5-)-methyltransferase activity (GO:0003886)|DNA binding (GO:0003677)|DNA-methyltransferase activity (GO:0009008)|methyl-CpG binding (GO:0008327)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			breast(5)|endometrium(8)|kidney(5)|large_intestine(21)|lung(11)|ovary(2)|pancreas(1)|prostate(10)|skin(5)|stomach(1)|urinary_tract(1)	70			OV - Ovarian serous cystadenocarcinoma(20;1.59e-09)|Epithelial(33;2.86e-06)|all cancers(31;6.68e-06)		Azacitidine(DB00928)|Decitabine(DB01262)|Flucytosine(DB01099)|Procainamide(DB01035)	CCTGGCAGGGCGGCCCGCCGC	0.607																																																	0			19											41.0	44.0	43.0					19																	10250808		2203	4300	6503	10111808	SO:0001819	synonymous_variant	1786			X63692	CCDS12228.1, CCDS45958.1	19p13.2	2014-09-17				ENSG00000130816	2.1.1.37		2976	protein-coding gene	gene with protein product		126375		DNMT		1594447	Standard	NM_001379		Approved	MCMT, CXXC9	uc010xlc.2	P26358		ENST00000340748.4:c.3672G>C	19.37:g.10250808C>G		Somatic		Capture	Illumina HiSeq	Phase_I	10111808	A0AV63|B7ZLW6|Q9UHG5|Q9ULA2|Q9UMZ6	Silent	SNP	ENST00000340748.4	37	CCDS12228.1																																																																																				DNMT1-001	KNOWN	upstream_ATG|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451166.1	NM_001379	
ICAM5	7087	hgsc.bcm.edu	37	19	10406046	10406046	+	Missense_Mutation	SNP	C	C	T			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr19:10406046C>T	ENST00000221980.4	+	10	2318	c.2255C>T	c.(2254-2256)gCt>gTt	p.A752V		NM_003259.3	NP_003250.3	Q9UMF0	ICAM5_HUMAN	intercellular adhesion molecule 5, telencephalin	752	Ig-like C2-type 9.				phagocytosis (GO:0006909)|single organismal cell-cell adhesion (GO:0016337)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)				breast(3)|endometrium(2)|kidney(1)|large_intestine(4)|lung(8)|prostate(2)|upper_aerodigestive_tract(1)	21			OV - Ovarian serous cystadenocarcinoma(20;2.64e-09)|Epithelial(33;4.31e-06)|all cancers(31;9.75e-06)			GCCGAACTTGCTGCCTCGCCC	0.692																																																	0			19											12.0	14.0	13.0					19																	10406046		2138	4261	6399	10267046	SO:0001583	missense	7087			U72671	CCDS12233.1	19p13.2	2013-01-14				ENSG00000105376		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5348	protein-coding gene	gene with protein product	"""telencephalin"""	601852		TLCN		8995416, 9828136	Standard	NM_003259		Approved	TLN	uc002mnu.4	Q9UMF0		ENST00000221980.4:c.2255C>T	19.37:g.10406046C>T	ENSP00000221980:p.Ala752Val	Somatic		Capture	Illumina HiSeq	Phase_I	10267046	Q9Y6F3	Missense_Mutation	SNP	ENST00000221980.4	37	CCDS12233.1	.	.	.	.	.	.	.	.	.	.	C	13.48	2.250123	0.39797	.	.	ENSG00000105376	ENST00000221980	T	0.33438	1.41	4.72	3.63	0.41609	Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.131104	0.35067	N	0.003477	T	0.09642	0.0237	N	0.01576	-0.805	0.31812	N	0.627062	B	0.32409	0.37	B	0.30316	0.114	T	0.06075	-1.0847	10	0.28530	T	0.3	-22.1816	7.0059	0.24836	0.0:0.8736:0.0:0.1264	.	752	Q9UMF0	ICAM5_HUMAN	V	752	ENSP00000221980:A752V	ENSP00000221980:A752V	A	+	2	0	ICAM5	10267046	0.883000	0.30277	0.956000	0.39512	0.360000	0.29518	1.519000	0.35888	2.469000	0.83416	0.549000	0.68633	GCT		ICAM5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451217.1	NM_003259	
MED26	9441	hgsc.bcm.edu	37	19	16687285	16687285	+	Silent	SNP	C	C	T			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr19:16687285C>T	ENST00000263390.3	-	3	1618	c.1356G>A	c.(1354-1356)gaG>gaA	p.E452E	CTC-429P9.4_ENST00000593962.1_5'Flank|CTD-3222D19.2_ENST00000409035.1_Intron	NM_004831.3	NP_004822.2	O95402	MED26_HUMAN	mediator complex subunit 26	452					gene expression (GO:0010467)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription initiation from RNA polymerase II promoter (GO:0006367)	mediator complex (GO:0016592)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|RNA polymerase II transcription cofactor activity (GO:0001104)|transcription coactivator activity (GO:0003713)			endometrium(2)|kidney(1)|large_intestine(1)|lung(1)|ovary(2)|skin(1)	8						TGGACTGCTGCTCCATGTGCA	0.577																																																	0			19											85.0	73.0	77.0					19																	16687285		2203	4300	6503	16548285	SO:0001819	synonymous_variant	9441			AF104253	CCDS12347.1	19p13.11	2008-02-05	2007-07-30	2007-07-30		ENSG00000105085			2376	protein-coding gene	gene with protein product		605043	"""cofactor required for Sp1 transcriptional activation, subunit 7, 70kDa"""	CRSP7		9989412	Standard	NM_004831		Approved	CRSP70	uc002nen.1	O95402		ENST00000263390.3:c.1356G>A	19.37:g.16687285C>T		Somatic		Capture	Illumina HiSeq	Phase_I	16548285	A1A4S3|Q0VGB6	Silent	SNP	ENST00000263390.3	37	CCDS12347.1																																																																																				MED26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461178.1	NM_004831	
FKBP8	23770	hgsc.bcm.edu	37	19	18652677	18652677	+	Missense_Mutation	SNP	C	C	T			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr19:18652677C>T	ENST00000596558.2	-	2	213	c.104G>A	c.(103-105)gGt>gAt	p.G35D	FKBP8_ENST00000453489.2_Missense_Mutation_p.G64D|FKBP8_ENST00000610101.1_Missense_Mutation_p.G35D|FKBP8_ENST00000597960.3_Missense_Mutation_p.G35D|FKBP8_ENST00000608443.1_Missense_Mutation_p.G35D|FKBP8_ENST00000222308.4_Missense_Mutation_p.G35D			Q14318	FKBP8_HUMAN	FK506 binding protein 8, 38kDa	35	Glu-rich.				apoptotic process (GO:0006915)|camera-type eye development (GO:0043010)|cell fate specification (GO:0001708)|chaperone-mediated protein folding (GO:0061077)|dorsal/ventral neural tube patterning (GO:0021904)|intracellular signal transduction (GO:0035556)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|positive regulation of BMP signaling pathway (GO:0030513)|protein peptidyl-prolyl isomerization (GO:0000413)|regulation of gene expression (GO:0010468)|smoothened signaling pathway (GO:0007224)|viral process (GO:0016032)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)	FK506 binding (GO:0005528)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						ttcctcctcACCCTCTGCATC	0.647																																																	0			19											36.0	29.0	31.0					19																	18652677		2203	4300	6503	18513677	SO:0001583	missense	23770			L37033	CCDS32961.1	19p12	2013-01-10	2002-08-29		ENSG00000105701	ENSG00000105701		"""Tetratricopeptide (TTC) repeat domain containing"""	3724	protein-coding gene	gene with protein product	"""FK506-binding protein 8 (38kD)"""	604840	"""FK506-binding protein 8 (38kD)"""			7543869	Standard	NM_012181		Approved	FKBP38, FKBPr38	uc002njj.1	Q14318		ENST00000596558.2:c.104G>A	19.37:g.18652677C>T	ENSP00000472302:p.Gly35Asp	Somatic		Capture	Illumina HiSeq	Phase_I	18513677	C8C9T5|Q53GU3|Q7Z349|Q86YK6	Missense_Mutation	SNP	ENST00000596558.2	37		.	.	.	.	.	.	.	.	.	.	C	8.429	0.848183	0.17034	.	.	ENSG00000105701	ENST00000222308;ENST00000544835;ENST00000453489	T;T;T	0.34667	1.35;1.51;1.59	3.69	-2.81	0.05805	.	1.277580	0.06064	N	0.658782	T	0.14570	0.0352	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.19289	-1.0310	10	0.32370	T	0.25	-4.5216	0.3233	0.00306	0.2558:0.2493:0.1383:0.3565	.	64;35;35	B7Z6M0;Q14318;Q14318-2	.;FKBP8_HUMAN;.	D	35;35;64	ENSP00000222308:G35D;ENSP00000441267:G35D;ENSP00000388891:G64D	ENSP00000222308:G35D	G	-	2	0	FKBP8	18513677	0.000000	0.05858	0.012000	0.15200	0.145000	0.21501	-0.289000	0.08365	-0.093000	0.12396	0.491000	0.48974	GGT		FKBP8-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000466374.3	NM_012181	
PPP1R12C	54776	hgsc.bcm.edu	37	19	55603861	55603861	+	Silent	SNP	G	G	A			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr19:55603861G>A	ENST00000263433.3	-	18	2019	c.2004C>T	c.(2002-2004)ctC>ctT	p.L668L	PPP1R12C_ENST00000435544.2_Silent_p.L593L|PPP1R12C_ENST00000376393.2_Silent_p.L605L	NM_001271618.1|NM_017607.2	NP_001258547.1|NP_060077.1			protein phosphatase 1, regulatory subunit 12C											central_nervous_system(1)|endometrium(2)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|urinary_tract(2)	22			BRCA - Breast invasive adenocarcinoma(297;0.209)	GBM - Glioblastoma multiforme(193;0.0449)		GTTCTGGGTTGAGGTCCCGCT	0.726																																																	0			19											19.0	22.0	21.0					19																	55603861		2188	4292	6480	60295673	SO:0001819	synonymous_variant	54776			AF312028	CCDS12916.1	19q13.42	2013-01-10	2011-10-04		ENSG00000125503	ENSG00000125503		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Ankyrin repeat domain containing"""	14947	protein-coding gene	gene with protein product	"""myosin-binding subunit 85"""	613245	"""leukocyte receptor cluster (LRC) member 3"", ""protein phosphatase 1, regulatory (inhibitor) subunit 12C"""	LENG3		11399775	Standard	NM_017607		Approved	DKFZP434D0412, p84, MBS85, p85	uc002qix.4	Q9BZL4		ENST00000263433.3:c.2004C>T	19.37:g.55603861G>A		Somatic		Capture	Illumina HiSeq	Phase_I	60295673		Silent	SNP	ENST00000263433.3	37	CCDS12916.1																																																																																				PPP1R12C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451814.2	NM_017607	
MYOM2	9172	hgsc.bcm.edu	37	8	2026918	2026918	+	Nonsense_Mutation	SNP	C	C	T	rs143448287		TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr8:2026918C>T	ENST00000262113.4	+	12	1507	c.1366C>T	c.(1366-1368)Cga>Tga	p.R456*	MYOM2_ENST00000523438.1_Intron	NM_003970.2	NP_003961.2	P54296	MYOM2_HUMAN	myomesin 2	456	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				muscle contraction (GO:0006936)	M band (GO:0031430)|mitochondrion (GO:0005739)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)	p.R456*(2)		autonomic_ganglia(2)|breast(4)|central_nervous_system(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(11)|kidney(2)|large_intestine(17)|lung(39)|ovary(5)|prostate(1)|skin(10)|upper_aerodigestive_tract(3)	104		Ovarian(12;0.0572)|Colorectal(14;0.0844)|Hepatocellular(245;0.217)		BRCA - Breast invasive adenocarcinoma(11;1.85e-05)|Colorectal(4;0.0101)|READ - Rectum adenocarcinoma(4;0.148)|COAD - Colon adenocarcinoma(4;0.179)		TTACATATTCCGAGTGAGGGC	0.517													C|||	1	0.000199681	0.0	0.0	5008	,	,		17025	0.001		0.0	False		,,,				2504	0.0																2	Substitution - Nonsense(2)	haematopoietic_and_lymphoid_tissue(2)	8						C	stop/ARG	0,4406		0,0,2203	160.0	173.0	169.0		1366	4.7	1.0	8	dbSNP_134	169	3,8597	3.0+/-9.4	0,3,4297	yes	stop-gained	MYOM2	NM_003970.2		0,3,6500	TT,TC,CC		0.0349,0.0,0.0231		456/1466	2026918	3,13003	2203	4300	6503	2014325	SO:0001587	stop_gained	9172				CCDS5957.1	8p23.3	2014-06-06	2012-10-17		ENSG00000036448	ENSG00000036448		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	7614	protein-coding gene	gene with protein product		603509	"""myomesin (M-protein) 2 (165kD)"", ""myomesin (M-protein) 2, 165kDa"""				Standard	XM_006716237		Approved		uc003wpx.4	P54296	OTTHUMG00000129175	ENST00000262113.4:c.1366C>T	8.37:g.2026918C>T	ENSP00000262113:p.Arg456*	Somatic		Capture	Illumina HiSeq	Phase_I	2014325	Q7Z3Y2	Nonsense_Mutation	SNP	ENST00000262113.4	37	CCDS5957.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	38	7.154352	0.98099	0.0	3.49E-4	ENSG00000036448	ENST00000262113	.	.	.	4.71	4.71	0.59529	.	0.000000	0.64402	D	0.000001	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	18.0367	0.89305	0.0:1.0:0.0:0.0	.	.	.	.	X	456	.	ENSP00000262113:R456X	R	+	1	2	MYOM2	2014325	1.000000	0.71417	1.000000	0.80357	0.341000	0.28922	4.548000	0.60718	2.308000	0.77769	0.561000	0.74099	CGA		MYOM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251249.1	NM_003970	
CSPP1	79848	hgsc.bcm.edu	37	8	68102916	68102916	+	Silent	SNP	A	A	G			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr8:68102916A>G	ENST00000262210.5	+	27	3268	c.3237A>G	c.(3235-3237)gaA>gaG	p.E1079E	CSPP1_ENST00000412460.1_Silent_p.E734E|CSPP1_ENST00000521168.1_3'UTR|ARFGEF1_ENST00000520381.1_Intron	NM_024790.6	NP_079066.5	Q1MSJ5	CSPP1_HUMAN	centrosome and spindle pole associated protein 1	1114					positive regulation of cell division (GO:0051781)|positive regulation of cytokinesis (GO:0032467)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|spindle (GO:0005819)|spindle pole (GO:0000922)				NS(1)|breast(3)|endometrium(4)|kidney(3)|large_intestine(11)|lung(17)|ovary(5)|prostate(3)|skin(1)|urinary_tract(1)	49	Breast(64;0.214)	Lung NSC(129;0.0908)|all_lung(136;0.152)	Epithelial(68;0.00145)|OV - Ovarian serous cystadenocarcinoma(28;0.00589)|all cancers(69;0.0069)|BRCA - Breast invasive adenocarcinoma(89;0.153)			CTGCCATTGAAGATGACGTCC	0.488																																																	0			8											119.0	115.0	116.0					8																	68102916		1948	4138	6086	68265470	SO:0001819	synonymous_variant	79848			AJ583433	CCDS43744.1	8q13.2	2014-02-24			ENSG00000104218	ENSG00000104218			26193	protein-coding gene	gene with protein product		611654				15580290, 24360807	Standard	NM_024790		Approved	FLJ22490, CSPP, JBTS21	uc003xxj.3	Q1MSJ5	OTTHUMG00000164564	ENST00000262210.5:c.3237A>G	8.37:g.68102916A>G		Somatic		Capture	Illumina HiSeq	Phase_I	68265470	A6ND63|Q70F00|Q8TBC1	Silent	SNP	ENST00000262210.5	37	CCDS43744.1																																																																																				CSPP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379254.1	NM_024790	
PRDM14	63978	hgsc.bcm.edu	37	8	70978520	70978520	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr8:70978520A>G	ENST00000276594.2	-	5	1334	c.1133T>C	c.(1132-1134)gTg>gCg	p.V378A		NM_024504.3	NP_078780.1	Q9GZV8	PRD14_HUMAN	PR domain containing 14	378					cell fate specification (GO:0001708)|cell morphogenesis (GO:0000902)|fertilization (GO:0009566)|germ cell development (GO:0007281)|germ-line stem cell maintenance (GO:0030718)|histone H3-R26 methylation (GO:0034972)|homeostasis of number of cells within a tissue (GO:0048873)|inner cell mass cell fate commitment (GO:0001827)|negative regulation of fibroblast growth factor receptor signaling pathway (GO:0040037)|regulation of DNA methylation (GO:0044030)|regulation of gene expression, epigenetic (GO:0040029)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)			NS(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(13)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	32	Breast(64;0.193)		Epithelial(68;0.00508)|all cancers(69;0.0259)|OV - Ovarian serous cystadenocarcinoma(28;0.0405)			CTGAAGGCTCACAGGAATATC	0.517																																					NSCLC(129;99 1813 5906 40656 46114)												0			8											70.0	73.0	72.0					8																	70978520		2203	4300	6503	71141074	SO:0001583	missense	63978			AF319458	CCDS6206.1	8q13.3	2013-01-08			ENSG00000147596	ENSG00000147596		"""Zinc fingers, C2H2-type"""	14001	protein-coding gene	gene with protein product		611781					Standard	NM_024504		Approved		uc003xym.3	Q9GZV8	OTTHUMG00000150495	ENST00000276594.2:c.1133T>C	8.37:g.70978520A>G	ENSP00000276594:p.Val378Ala	Somatic		Capture	Illumina HiSeq	Phase_I	71141074	Q86UX9	Missense_Mutation	SNP	ENST00000276594.2	37	CCDS6206.1	.	.	.	.	.	.	.	.	.	.	A	20.3	3.959459	0.74016	.	.	ENSG00000147596	ENST00000276594	T	0.11604	2.76	5.46	5.46	0.80206	.	0.432075	0.24796	N	0.035534	T	0.06872	0.0175	N	0.19112	0.55	0.31667	N	0.644845	P	0.39665	0.682	B	0.27380	0.079	T	0.09684	-1.0663	10	0.34782	T	0.22	-2.0433	15.5356	0.76001	1.0:0.0:0.0:0.0	.	378	Q9GZV8	PRD14_HUMAN	A	378	ENSP00000276594:V378A	ENSP00000276594:V378A	V	-	2	0	PRDM14	71141074	0.999000	0.42202	0.528000	0.27938	0.486000	0.33341	4.758000	0.62220	2.070000	0.61991	0.459000	0.35465	GTG		PRDM14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318505.1		
RNF19A	25897	hgsc.bcm.edu	37	8	101299932	101299932	+	Silent	SNP	A	A	G			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr8:101299932A>G	ENST00000519449.1	-	3	787	c.471T>C	c.(469-471)gaT>gaC	p.D157D	RNF19A_ENST00000341084.2_Silent_p.D157D	NM_001280539.1|NM_015435.3	NP_001267468.1|NP_056250.3	Q9NV58	RN19A_HUMAN	ring finger protein 19A, RBR E3 ubiquitin protein ligase	157					microtubule cytoskeleton organization (GO:0000226)|protein ubiquitination (GO:0016567)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)	ligase activity (GO:0016874)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(5)|lung(11)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	30	all_cancers(14;3.5e-05)|all_epithelial(15;8.91e-08)|Lung NSC(17;0.000615)|all_lung(17;0.00166)		Epithelial(11;3.06e-11)|all cancers(13;5.78e-09)|OV - Ovarian serous cystadenocarcinoma(57;2.24e-05)|STAD - Stomach adenocarcinoma(118;0.0525)			GTCGTAAGCAATCCACACAAG	0.378																																																	0			8											107.0	109.0	108.0					8																	101299932		2203	4300	6503	101369108	SO:0001819	synonymous_variant	25897			AB029316	CCDS6286.1	8q22	2013-10-03	2013-10-03	2007-08-20		ENSG00000034677		"""RING-type (C3HC4) zinc fingers"""	13432	protein-coding gene	gene with protein product		607119	"""ring finger protein 19"", ""ring finger protein 19A"", ""ring finger protein 19A, E3 ubiquitin protein ligase"""	RNF19		11237715, 10976766	Standard	NM_183419		Approved	dorfin, DKFZp566B1346	uc003yjj.1	Q9NV58		ENST00000519449.1:c.471T>C	8.37:g.101299932A>G		Somatic		Capture	Illumina HiSeq	Phase_I	101369108	A3KCU9|Q52LG1|Q9H5H9|Q9H8M8|Q9UFG0|Q9UFX6|Q9Y4Y1	Silent	SNP	ENST00000519449.1	37	CCDS6286.1																																																																																				RNF19A-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380004.1	NM_015435	
PKHD1L1	93035	hgsc.bcm.edu	37	8	110474073	110474073	+	Missense_Mutation	SNP	G	G	T			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr8:110474073G>T	ENST00000378402.5	+	48	7423	c.7319G>T	c.(7318-7320)tGc>tTc	p.C2440F		NM_177531.4	NP_803875.2	Q86WI1	PKHL1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)-like 1	2440					immune response (GO:0006955)	cytosol (GO:0005829)|extracellular space (GO:0005615)|integral component of membrane (GO:0016021)	receptor activity (GO:0004872)	p.C2442S(1)		NS(4)|breast(13)|central_nervous_system(6)|cervix(1)|endometrium(19)|kidney(17)|large_intestine(34)|lung(122)|ovary(11)|pancreas(3)|prostate(9)|skin(3)|stomach(4)|upper_aerodigestive_tract(13)|urinary_tract(4)	263			OV - Ovarian serous cystadenocarcinoma(57;9.88e-13)			TTTGGAGGCTGCGTTATGTTT	0.398										HNSCC(38;0.096)																																							1	Substitution - Missense(1)	upper_aerodigestive_tract(1)	8											71.0	75.0	74.0					8																	110474073		2059	4214	6273	110543249	SO:0001583	missense	93035			AY219181	CCDS47911.1	8q23	2003-03-28			ENSG00000205038	ENSG00000205038			20313	protein-coding gene	gene with protein product		607843				12620974	Standard	NM_177531		Approved		uc003yne.3	Q86WI1	OTTHUMG00000164934	ENST00000378402.5:c.7319G>T	8.37:g.110474073G>T	ENSP00000367655:p.Cys2440Phe	Somatic		Capture	Illumina HiSeq	Phase_I	110543249	Q567P2|Q9UF27	Missense_Mutation	SNP	ENST00000378402.5	37	CCDS47911.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.194877	0.78902	.	.	ENSG00000205038	ENST00000378402	D	0.85484	-1.99	5.64	5.64	0.86602	.	0.000000	0.85682	D	0.000000	D	0.89543	0.6745	M	0.72479	2.2	0.50467	D	0.999874	P	0.49961	0.93	P	0.54026	0.74	D	0.88760	0.3256	10	0.41790	T	0.15	.	17.2064	0.86920	0.0:0.0:1.0:0.0	.	2440	Q86WI1	PKHL1_HUMAN	F	2440	ENSP00000367655:C2440F	ENSP00000367655:C2440F	C	+	2	0	PKHD1L1	110543249	1.000000	0.71417	1.000000	0.80357	0.827000	0.46813	8.378000	0.90144	2.664000	0.90586	0.650000	0.86243	TGC		PKHD1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381017.1	NM_177531	
KIAA0196	9897	hgsc.bcm.edu	37	8	126079939	126079939	+	Silent	SNP	G	G	T			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr8:126079939G>T	ENST00000318410.7	-	10	1522	c.1173C>A	c.(1171-1173)cgC>cgA	p.R391R	KIAA0196_ENST00000517845.1_Silent_p.R243R	NM_014846.3	NP_055661.3	Q12768	STRUM_HUMAN	KIAA0196	391					cell death (GO:0008219)|endosomal transport (GO:0016197)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|WASH complex (GO:0071203)				NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(7)|lung(15)|ovary(2)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(2)	42	Ovarian(258;0.0028)|all_neural(195;0.00294)|Hepatocellular(40;0.108)		STAD - Stomach adenocarcinoma(47;0.000918)|COAD - Colon adenocarcinoma(160;0.205)			TTTGACGAAGGCGTTTGTTGT	0.363																																																	0			8											197.0	182.0	187.0					8																	126079939		2203	4300	6503	126149121	SO:0001819	synonymous_variant	9897				CCDS6355.1	8q24.13	2014-05-09			ENSG00000164961	ENSG00000164961			28984	protein-coding gene	gene with protein product	"""strumpellin"""	610657	"""spastic paraplegia 8 (autosomal dominant)"""	SPG8		9973294, 17160902, 23085491	Standard	NM_014846		Approved		uc003yrt.3	Q12768	OTTHUMG00000164991	ENST00000318410.7:c.1173C>A	8.37:g.126079939G>T		Somatic		Capture	Illumina HiSeq	Phase_I	126149121	A8K4R7|Q3KQX5|Q8TBQ2	Silent	SNP	ENST00000318410.7	37	CCDS6355.1	.	.	.	.	.	.	.	.	.	.	G	7.354	0.623408	0.14193	.	.	ENSG00000164961	ENST00000523273	.	.	.	5.61	3.72	0.42706	.	.	.	.	.	T	0.48466	0.1501	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42982	-0.9419	4	.	.	.	-10.1884	4.7219	0.12922	0.2083:0.3313:0.4604:0.0	.	.	.	.	D	8	.	.	A	-	2	0	KIAA0196	126149121	0.397000	0.25270	1.000000	0.80357	0.680000	0.39746	-0.244000	0.08903	1.382000	0.46385	-0.339000	0.08088	GCC		KIAA0196-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381369.1	NM_014846	
COL22A1	169044	hgsc.bcm.edu	37	8	139675948	139675948	+	Splice_Site	SNP	C	C	T	rs371517268		TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr8:139675948C>T	ENST00000303045.6	-	42	3632	c.3186G>A	c.(3184-3186)ccG>ccA	p.P1062P	COL22A1_ENST00000341807.4_5'UTR|COL22A1_ENST00000435777.1_Splice_Site_p.P1042P	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1062	Collagen-like 9.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CATACTGTACCGGGGATCCTT	0.423										HNSCC(7;0.00092)																																							0			8						C		0,4406		0,0,2203	127.0	127.0	127.0		3186	4.5	1.0	8		127	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous-near-splice	COL22A1	NM_152888.1		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		1062/1627	139675948	1,13005	2203	4300	6503	139745130	SO:0001630	splice_region_variant	169044			AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.3186+1G>A	8.37:g.139675948C>T		Somatic		Capture	Illumina HiSeq	Phase_I	139745130	B7ZMH0|C9K0G4|Q8IVT9	Silent	SNP	ENST00000303045.6	37	CCDS6376.1																																																																																				COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257	Silent
CAMTA1	23261	hgsc.bcm.edu	37	1	6885166	6885166	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr1:6885166A>G	ENST00000303635.7	+	3	337	c.130A>G	c.(130-132)Agc>Ggc	p.S44G	CAMTA1_ENST00000557126.1_Missense_Mutation_p.S44G|CAMTA1_ENST00000439411.2_Missense_Mutation_p.S44G|CAMTA1_ENST00000476163.1_3'UTR|CAMTA1_ENST00000467404.2_Missense_Mutation_p.S56G|CAMTA1_ENST00000473578.1_Missense_Mutation_p.S44G	NM_015215.2	NP_056030.1	Q9Y6Y1	CMTA1_HUMAN	calmodulin binding transcription activator 1	44					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(5)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(11)|lung(29)|ovary(5)|pancreas(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	85	Ovarian(185;0.0634)	all_epithelial(116;8.38e-23)|all_lung(118;5.87e-07)|Lung NSC(185;3.43e-06)|Renal(390;0.000219)|Breast(487;0.000307)|Colorectal(325;0.000615)|Hepatocellular(190;0.0088)|Myeloproliferative disorder(586;0.0303)|Ovarian(437;0.0388)		UCEC - Uterine corpus endometrioid carcinoma (279;0.101)|Colorectal(212;1.33e-05)|COAD - Colon adenocarcinoma(227;0.000235)|BRCA - Breast invasive adenocarcinoma(304;0.000864)|Kidney(185;0.00244)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0179)|READ - Rectum adenocarcinoma(331;0.133)		TCATGGGAACAGCAATAGTAG	0.343			T	WWTR1	epitheliod hemangioendothelioma																																			Dom	yes		1	1p36.31-p36.23	611501	calmodulin binding transcription activator 1		M	0			1											63.0	67.0	65.0					1																	6885166		2203	4300	6503	6807753	SO:0001583	missense	23261			AB020640	CCDS30576.1, CCDS55574.1, CCDS55575.1	1p36.31-p36.23	2008-07-18			ENSG00000171735	ENSG00000171735			18806	protein-coding gene	gene with protein product		611501				11925432	Standard	NM_001195563		Approved	KIAA0833	uc001aoi.3	Q9Y6Y1	OTTHUMG00000001212	ENST00000303635.7:c.130A>G	1.37:g.6885166A>G	ENSP00000306522:p.Ser44Gly	Somatic		Capture	Illumina HiSeq	Phase_I	6807753	A7MBM4|G3V3Z7|Q5VUE1|Q6V701|Q8WYI3|Q96S92	Missense_Mutation	SNP	ENST00000303635.7	37	CCDS30576.1	.	.	.	.	.	.	.	.	.	.	A	22.4	4.290398	0.80914	.	.	ENSG00000171735	ENST00000303635;ENST00000473578;ENST00000557126;ENST00000467404;ENST00000439411	T;T	0.20598	2.06;2.06	6.05	6.05	0.98169	.	0.208076	0.33916	N	0.004433	T	0.15609	0.0376	N	0.08118	0	0.33173	D	0.548574	P	0.43788	0.817	B	0.44224	0.444	T	0.14896	-1.0456	10	0.44086	T	0.13	-15.5163	15.7743	0.78198	1.0:0.0:0.0:0.0	.	44	Q9Y6Y1	CMTA1_HUMAN	G	44;44;44;56;44	ENSP00000306522:S44G;ENSP00000402561:S44G	ENSP00000306522:S44G	S	+	1	0	CAMTA1	6807753	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.757000	0.74924	2.320000	0.78422	0.528000	0.53228	AGC		CAMTA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000003588.3	NM_015215	
PTPRU	10076	hgsc.bcm.edu	37	1	29630428	29630428	+	Silent	SNP	T	T	C			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr1:29630428T>C	ENST00000345512.3	+	17	2697	c.2568T>C	c.(2566-2568)cgT>cgC	p.R856R	PTPRU_ENST00000428026.2_Silent_p.R846R|PTPRU_ENST00000356870.3_Silent_p.R846R|PTPRU_ENST00000460170.2_Silent_p.R846R|PTPRU_ENST00000373779.3_Silent_p.R846R|PTPRU_ENST00000323874.8_Silent_p.R846R|PTPRU_ENST00000415600.2_3'UTR	NM_005704.4	NP_005695.3	Q92729	PTPRU_HUMAN	protein tyrosine phosphatase, receptor type, U	856	Mediates interaction with CTNNB1. {ECO:0000250}.		R -> C (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		canonical Wnt signaling pathway (GO:0060070)|cell adhesion (GO:0007155)|cell differentiation (GO:0030154)|homotypic cell-cell adhesion (GO:0034109)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|organ regeneration (GO:0031100)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|protein localization to cell surface (GO:0034394)|response to glucocorticoid (GO:0051384)|single organismal cell-cell adhesion (GO:0016337)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	cell-cell junction (GO:0005911)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	beta-catenin binding (GO:0008013)|protein tyrosine phosphatase activity (GO:0004725)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			breast(4)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(18)|lung(26)|ovary(1)|prostate(3)|skin(9)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	79		Colorectal(325;0.000399)|Lung NSC(340;0.00953)|all_lung(284;0.0112)|Breast(348;0.0126)|all_neural(195;0.0199)|Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0563)|Medulloblastoma(700;0.123)		Colorectal(126;6.99e-07)|COAD - Colon adenocarcinoma(152;3.18e-05)|STAD - Stomach adenocarcinoma(196;0.0234)|READ - Rectum adenocarcinoma(331;0.0686)|BRCA - Breast invasive adenocarcinoma(304;0.0871)		CCCCGAGGCGTCCCTGTGGCC	0.642																																																	0			1											39.0	44.0	42.0					1																	29630428		2203	4299	6502	29503015	SO:0001819	synonymous_variant	10076			U71075	CCDS334.1, CCDS335.1, CCDS44098.1, CCDS44098.2, CCDS53290.1	1p35.3	2013-02-11			ENSG00000060656	ENSG00000060656		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Fibronectin type III domain containing"""	9683	protein-coding gene	gene with protein product	"""pi R-PTP-Psi"""	602454				8700514, 9434160	Standard	NM_133178		Approved	PTPRO, hPTP-J, PCP-2, FMI, PTP	uc001bru.3	Q92729	OTTHUMG00000003699	ENST00000345512.3:c.2568T>C	1.37:g.29630428T>C		Somatic		Capture	Illumina HiSeq	Phase_I	29503015	A6H8L1|O00197|P78399|Q59HA4|Q5SYU4|Q5SYU5|Q92735|Q92850	Silent	SNP	ENST00000345512.3	37	CCDS334.1																																																																																				PTPRU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010447.1		
TSPAN1	10103	hgsc.bcm.edu	37	1	46650757	46650757	+	Silent	SNP	C	C	A			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr1:46650757C>A	ENST00000372003.1	+	7	1028	c.564C>A	c.(562-564)acC>acA	p.T188T	TSPAN1_ENST00000498443.1_3'UTR	NM_005727.3	NP_005718.2	O60635	TSN1_HUMAN	tetraspanin 1	188					cell migration (GO:0016477)|cell proliferation (GO:0008283)|positive regulation of endocytosis (GO:0045807)|protein stabilization (GO:0050821)|thiamine transmembrane transport (GO:0071934)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	thiamine uptake transmembrane transporter activity (GO:0015403)	p.T188T(1)		kidney(1)|large_intestine(1)|lung(5)|ovary(1)	8	Acute lymphoblastic leukemia(166;0.155)	Medulloblastoma(700;0.00498)|all_neural(321;0.0212)				AAACCTGCACCAAGCAAAAGG	0.512																																																	1	Substitution - coding silent(1)	ovary(1)	1											122.0	128.0	126.0					1																	46650757		2203	4300	6503	46423344	SO:0001819	synonymous_variant	10103			BC013404	CCDS530.1	1p33	2013-02-14			ENSG00000117472	ENSG00000117472		"""Tetraspanins"""	20657	protein-coding gene	gene with protein product		613170				9714763, 10719184	Standard	NM_005727		Approved	TSPAN-1, NET-1	uc001cpd.3	O60635	OTTHUMG00000007602	ENST00000372003.1:c.564C>A	1.37:g.46650757C>A		Somatic		Capture	Illumina HiSeq	Phase_I	46423344	D3DQ14|O60745|Q5VST0	Silent	SNP	ENST00000372003.1	37	CCDS530.1																																																																																				TSPAN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000020135.1	NM_005727	
FGGY	55277	hgsc.bcm.edu	37	1	60228197	60228197	+	Missense_Mutation	SNP	G	G	A			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr1:60228197G>A	ENST00000303721.7	+	16	1771	c.1597G>A	c.(1597-1599)Gta>Ata	p.V533I	FGGY_ENST00000371210.1_Missense_Mutation_p.V234I|FGGY_ENST00000371212.1_Missense_Mutation_p.V445I|RP4-782L23.2_ENST00000443012.1_RNA|FGGY_ENST00000371218.4_Missense_Mutation_p.V557I	NM_018291.3	NP_060761.3	Q96C11	FGGY_HUMAN	FGGY carbohydrate kinase domain containing	533					carbohydrate metabolic process (GO:0005975)|cell death (GO:0008219)|neuron cellular homeostasis (GO:0070050)		kinase activity (GO:0016301)|phosphotransferase activity, alcohol group as acceptor (GO:0016773)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(13)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	22	all_cancers(7;7.36e-05)					GAAATACCAAGTATTCCTGAA	0.418																																																	0			1											69.0	66.0	67.0					1																	60228197		2203	4300	6503	60000785	SO:0001583	missense	55277				CCDS611.2, CCDS44155.1, CCDS58003.1, CCDS60155.1	1p32.1	2008-10-23			ENSG00000172456	ENSG00000172456			25610	protein-coding gene	gene with protein product		611370				17671248	Standard	NM_018291		Approved	FLJ10986	uc009wac.3	Q96C11	OTTHUMG00000008424	ENST00000303721.7:c.1597G>A	1.37:g.60228197G>A	ENSP00000305922:p.Val533Ile	Somatic		Capture	Illumina HiSeq	Phase_I	60000785	B1AK92|B1AK93|B1AK94|B2RDR8|D3DQ56|Q9HA63|Q9NV20	Missense_Mutation	SNP	ENST00000303721.7	37	CCDS611.2	.	.	.	.	.	.	.	.	.	.	G	17.65	3.443070	0.63067	.	.	ENSG00000172456	ENST00000371218;ENST00000303721;ENST00000371212;ENST00000371210	D;D;D;D	0.89939	-2.59;-2.59;-2.59;-2.59	5.26	4.35	0.52113	.	0.074188	0.52532	D	0.000067	D	0.90501	0.7024	L	0.52905	1.665	0.49389	D	0.999785	D;D;P	0.60160	0.987;0.972;0.923	P;P;P	0.58454	0.839;0.545;0.545	D	0.89438	0.3721	9	.	.	.	-9.9171	11.4353	0.50064	0.0827:0.0:0.9173:0.0	.	557;445;533	Q96C11-3;B1AK94;Q96C11	.;.;FGGY_HUMAN	I	557;533;445;234	ENSP00000360262:V557I;ENSP00000305922:V533I;ENSP00000360256:V445I;ENSP00000360254:V234I	.	V	+	1	0	FGGY	60000785	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.416000	0.66417	1.468000	0.48064	0.557000	0.71058	GTA		FGGY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023210.2	NM_001113411	
DPYD	1806	hgsc.bcm.edu	37	1	97547897	97547897	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr1:97547897A>G	ENST00000370192.3	-	22	2996	c.2896T>C	c.(2896-2898)Tct>Cct	p.S966P		NM_000110.3	NP_000101	Q12882	DPYD_HUMAN	dihydropyrimidine dehydrogenase	966	4Fe-4S ferredoxin-type 2. {ECO:0000255|PROSITE-ProRule:PRU00711}.				beta-alanine biosynthetic process (GO:0019483)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase catabolic process (GO:0006145)|pyrimidine nucleobase catabolic process (GO:0006208)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside catabolic process (GO:0046135)|small molecule metabolic process (GO:0044281)|thymidine catabolic process (GO:0006214)|thymine catabolic process (GO:0006210)|UMP biosynthetic process (GO:0006222)|uracil catabolic process (GO:0006212)	cytoplasm (GO:0005737)|cytosol (GO:0005829)	4 iron, 4 sulfur cluster binding (GO:0051539)|dihydroorotate dehydrogenase activity (GO:0004152)|dihydropyrimidine dehydrogenase (NADP+) activity (GO:0017113)|flavin adenine dinucleotide binding (GO:0050660)|metal ion binding (GO:0046872)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(18)|lung(30)|ovary(4)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	83		all_epithelial(167;0.000185)|all_lung(203;0.00318)|Lung NSC(277;0.00994)		Colorectal(170;0.0165)|Epithelial(280;0.0526)|all cancers(265;0.104)|READ - Rectum adenocarcinoma(84;0.171)|Lung(183;0.216)	Capecitabine(DB01101)|Flavin adenine dinucleotide(DB03147)|Fluorouracil(DB00544)	TGGTAGCCAGAATCATTACAG	0.383																																																	0			1											216.0	199.0	205.0					1																	97547897		2203	4300	6503	97320485	SO:0001583	missense	1806			U20938	CCDS30777.1, CCDS53346.1	1p22	2014-09-17			ENSG00000188641	ENSG00000188641	1.3.1.2		3012	protein-coding gene	gene with protein product		612779				7713523	Standard	NM_000110		Approved	DPD	uc001drv.3	Q12882	OTTHUMG00000039683	ENST00000370192.3:c.2896T>C	1.37:g.97547897A>G	ENSP00000359211:p.Ser966Pro	Somatic		Capture	Illumina HiSeq	Phase_I	97320485	A2RRQ2|A2RRQ3|A8K5A2|A8MWG9|B1AN21|E9PFN1|Q16694|Q16761|Q32NB0|Q96HL6|Q96TH1	Missense_Mutation	SNP	ENST00000370192.3	37	CCDS30777.1	.	.	.	.	.	.	.	.	.	.	A	23.2	4.392669	0.83011	.	.	ENSG00000188641	ENST00000370192	D	0.90444	-2.67	5.82	5.82	0.92795	4Fe-4S ferredoxin, iron-sulpur binding domain (1);	0.000000	0.85682	D	0.000000	D	0.95522	0.8545	M	0.88310	2.945	0.80722	D	1	D	0.89917	1.0	D	0.81914	0.995	D	0.96318	0.9234	10	0.87932	D	0	-23.809	16.1779	0.81874	1.0:0.0:0.0:0.0	.	966	Q12882	DPYD_HUMAN	P	966	ENSP00000359211:S966P	ENSP00000359211:S966P	S	-	1	0	DPYD	97320485	1.000000	0.71417	1.000000	0.80357	0.847000	0.48162	7.114000	0.77103	2.216000	0.71823	0.533000	0.62120	TCT		DPYD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095698.3	NM_000110	
RBM15	64783	hgsc.bcm.edu	37	1	110888224	110888224	+	Missense_Mutation	SNP	T	T	C			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr1:110888224T>C	ENST00000369784.3	+	2	3827	c.2927T>C	c.(2926-2928)cTg>cCg	p.L976P	RBM15_ENST00000487146.2_Intron	NM_022768.4	NP_073605.4	Q96T37	RBM15_HUMAN	RNA binding motif protein 15	976					negative regulation of myeloid cell differentiation (GO:0045638)|patterning of blood vessels (GO:0001569)|placenta blood vessel development (GO:0060674)|positive regulation of transcription of Notch receptor target (GO:0007221)|spleen development (GO:0048536)|ventricular septum morphogenesis (GO:0060412)|viral process (GO:0016032)	membrane (GO:0016020)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			ovary(3)	3		all_cancers(81;2.89e-06)|all_epithelial(167;2.96e-06)|all_lung(203;0.000116)|Lung NSC(277;0.000233)|Breast(1374;0.0634)		BRCA - Breast invasive adenocarcinoma(282;0.000224)|Epithelial(280;0.000476)|Kidney(133;0.000539)|KIRC - Kidney renal clear cell carcinoma(1967;0.000716)|all cancers(265;0.00144)|Lung(183;0.0238)|Colorectal(144;0.103)|LUSC - Lung squamous cell carcinoma(189;0.135)		GCGCTGACCCTGTTATAGTGG	0.378			T	MKL1	acute megakaryocytic leukemia																																			Dom	yes		1	1p13	64783	RNA binding motif protein 15		L	0			1											215.0	238.0	230.0					1																	110888224		2203	4300	6503	110689747	SO:0001583	missense	64783			AF368063	CCDS822.1, CCDS59198.1	1p13	2013-02-12			ENSG00000162775	ENSG00000162775		"""RNA binding motif (RRM) containing"""	14959	protein-coding gene	gene with protein product	"""one twenty-two"""	606077				11431691, 11344311	Standard	NM_001201545		Approved	OTT, OTT1	uc001dzl.1	Q96T37	OTTHUMG00000011284	ENST00000369784.3:c.2927T>C	1.37:g.110888224T>C	ENSP00000358799:p.Leu976Pro	Somatic		Capture	Illumina HiSeq	Phase_I	110689747	A1A693|Q3ZB86|Q4V760|Q5D058|Q5T613|Q86VW9|Q96PE4|Q96SC5|Q96SC6|Q96SC9|Q96SD0|Q96T38|Q9BRA5|Q9H6R8|Q9H9Y0	Missense_Mutation	SNP	ENST00000369784.3	37	CCDS822.1	.	.	.	.	.	.	.	.	.	.	T	5.732	0.319451	0.10845	.	.	ENSG00000162775	ENST00000369784	T	0.20881	2.04	5.57	2.01	0.26516	.	.	.	.	.	T	0.03348	0.0097	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42816	-0.9429	9	0.87932	D	0	53.3357	7.0412	0.25021	0.0:0.2655:0.0:0.7345	.	976	Q96T37	RBM15_HUMAN	P	976	ENSP00000358799:L976P	ENSP00000358799:L976P	L	+	2	0	RBM15	110689747	0.000000	0.05858	0.001000	0.08648	0.018000	0.09664	0.479000	0.22228	0.091000	0.17302	0.482000	0.46254	CTG		RBM15-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000031114.2	NM_022768	
FAM71A	149647	hgsc.bcm.edu	37	1	212799671	212799671	+	Silent	SNP	C	C	T			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr1:212799671C>T	ENST00000294829.3	+	1	1883	c.1452C>T	c.(1450-1452)agC>agT	p.S484S	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	484						nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		CGGGGAGCAGCAGGCACAGGG	0.547																																																	0			1											80.0	80.0	80.0					1																	212799671		2203	4300	6503	210866294	SO:0001819	synonymous_variant	149647				CCDS1507.1	1q32.3	2008-02-05			ENSG00000162771	ENSG00000162771			26541	protein-coding gene	gene with protein product						12477932	Standard	NM_153606		Approved	FLJ32796	uc010pth.1	Q8IYT1	OTTHUMG00000041084	ENST00000294829.3:c.1452C>T	1.37:g.212799671C>T		Somatic		Capture	Illumina HiSeq	Phase_I	210866294	Q5VTZ1	Silent	SNP	ENST00000294829.3	37	CCDS1507.1																																																																																				FAM71A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098529.1	NM_153606	
WNT9A	7483	hgsc.bcm.edu	37	1	228112049	228112049	+	Silent	SNP	G	G	A	rs147711960	byFrequency	TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr1:228112049G>A	ENST00000272164.5	-	3	415	c.405C>T	c.(403-405)caC>caT	p.H135H		NM_003395.2	NP_003386.1	O14904	WNT9A_HUMAN	wingless-type MMTV integration site family, member 9A	135					canonical Wnt signaling pathway (GO:0060070)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|cellular response to retinoic acid (GO:0071300)|cornea development in camera-type eye (GO:0061303)|embryonic forelimb morphogenesis (GO:0035115)|embryonic skeletal joint development (GO:0072498)|embryonic skeletal system morphogenesis (GO:0048704)|iris morphogenesis (GO:0061072)|mitotic cell cycle checkpoint (GO:0007093)|multicellular organismal development (GO:0007275)|negative regulation of cartilage development (GO:0061037)|negative regulation of cell death (GO:0060548)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|neuron differentiation (GO:0030182)|positive regulation of cell differentiation (GO:0045597)|positive regulation of smoothened signaling pathway (GO:0045880)|Wnt signaling pathway (GO:0016055)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)	p.H135H(1)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Prostate(94;0.0405)				TGGCCAGTGCGTGCGTCAGGC	0.677													G|||	2	0.000399361	0.0	0.0	5008	,	,		12282	0.001		0.001	False		,,,				2504	0.0																1	Substitution - coding silent(1)	endometrium(1)	1						G		0,4406		0,0,2203	61.0	63.0	62.0		405	-6.3	0.0	1	dbSNP_134	62	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	WNT9A	NM_003395.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		135/366	228112049	2,13004	2203	4300	6503	226178672	SO:0001819	synonymous_variant	7483			AB060283	CCDS31045.1	1q42	2008-02-05	2003-03-11	2003-03-14	ENSG00000143816	ENSG00000143816		"""Wingless-type MMTV integration sites"""	12778	protein-coding gene	gene with protein product		602863	"""wingless-type MMTV integration site family, member 14"""	WNT14		9441749	Standard	NM_003395		Approved		uc001hri.2	O14904	OTTHUMG00000037592	ENST00000272164.5:c.405C>T	1.37:g.228112049G>A		Somatic		Capture	Illumina HiSeq	Phase_I	226178672	A6NLW2|Q2M2J3|Q5VWU0|Q96S50	Silent	SNP	ENST00000272164.5	37	CCDS31045.1																																																																																				WNT9A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091646.1	NM_003395	
SLC6A5	9152	hgsc.bcm.edu	37	11	20623125	20623125	+	Missense_Mutation	SNP	G	G	A			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr11:20623125G>A	ENST00000525748.1	+	2	727	c.454G>A	c.(454-456)Gtg>Atg	p.V152M		NM_004211.3	NP_004202.2	Q9Y345	SC6A5_HUMAN	solute carrier family 6 (neurotransmitter transporter), member 5	152					glycine import (GO:0036233)|synaptic transmission (GO:0007268)|synaptic transmission, glycinergic (GO:0060012)|transmembrane transport (GO:0055085)|transport (GO:0006810)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycine:sodium symporter activity (GO:0015375)|neurotransmitter:sodium symporter activity (GO:0005328)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(34)|ovary(2)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	63					Glycine(DB00145)	TGTGGGCTGGGTGAACATGAG	0.632																																																	0			11											102.0	89.0	93.0					11																	20623125		2203	4300	6503	20579701	SO:0001583	missense	9152			AF085412	CCDS7854.1	11p15.1	2013-07-19	2013-07-19		ENSG00000165970	ENSG00000165970		"""Solute carriers"""	11051	protein-coding gene	gene with protein product	"""glycine transporter 2"""	604159	"""solute carrier family 6 (neurotransmitter transporter, glycine), member 5"""	NET1		9845349	Standard	NM_004211		Approved	GLYT2	uc001mqd.3	Q9Y345	OTTHUMG00000166024	ENST00000525748.1:c.454G>A	11.37:g.20623125G>A	ENSP00000434364:p.Val152Met	Somatic		Capture	Illumina HiSeq	Phase_I	20579701	O95288|Q4VAM7|Q9BX77	Missense_Mutation	SNP	ENST00000525748.1	37	CCDS7854.1	.	.	.	.	.	.	.	.	.	.	G	18.46	3.628565	0.67015	.	.	ENSG00000165970	ENST00000525748	T	0.74632	-0.86	5.69	3.46	0.39613	.	1.073890	0.07162	N	0.850944	T	0.64249	0.2581	L	0.27053	0.805	0.42866	D	0.994126	P	0.43477	0.808	B	0.38712	0.28	T	0.60622	-0.7227	10	0.87932	D	0	.	10.7536	0.46223	0.0809:0.0:0.7841:0.135	.	152	Q9Y345	SC6A5_HUMAN	M	152	ENSP00000434364:V152M	ENSP00000298923:V152M	V	+	1	0	SLC6A5	20579701	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	2.808000	0.47963	1.380000	0.46344	0.455000	0.32223	GTG		SLC6A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387497.2	NM_004211	
MAPK8IP1	9479	hgsc.bcm.edu	37	11	45924235	45924235	+	Missense_Mutation	SNP	G	G	A			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr11:45924235G>A	ENST00000241014.2	+	5	1087	c.917G>A	c.(916-918)cGg>cAg	p.R306Q	MAPK8IP1_ENST00000395629.2_Missense_Mutation_p.R296Q	NM_005456.3	NP_005447.1	Q9UQF2	JIP1_HUMAN	mitogen-activated protein kinase 8 interacting protein 1	306	Interaction with MAP3K7.				JUN phosphorylation (GO:0007258)|negative regulation of apoptotic process (GO:0043066)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of JNK cascade (GO:0046329)|negative regulation of JUN kinase activity (GO:0043508)|positive regulation of signal transduction (GO:0009967)|regulation of JNK cascade (GO:0046328)|regulation of transcription, DNA-templated (GO:0006355)|vesicle-mediated transport (GO:0016192)	axonal growth cone (GO:0044295)|cell body (GO:0044297)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|dendritic growth cone (GO:0044294)|dentate gyrus mossy fiber (GO:0044302)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|synapse (GO:0045202)	kinesin binding (GO:0019894)|MAP-kinase scaffold activity (GO:0005078)|protein kinase inhibitor activity (GO:0004860)	p.R306L(2)		breast(1)|endometrium(2)|kidney(2)|large_intestine(7)|lung(7)|ovary(2)|prostate(1)|skin(2)	24				GBM - Glioblastoma multiforme(35;0.231)		ACTGAGAGCCGGATGTCAGTC	0.667																																																	2	Substitution - Missense(2)	lung(2)	11											19.0	23.0	21.0					11																	45924235		2203	4299	6502	45880811	SO:0001583	missense	9479				CCDS7916.1	11p11.2	2009-07-24			ENSG00000121653	ENSG00000121653			6882	protein-coding gene	gene with protein product		604641		PRKM8IP		9235893, 9442013	Standard	NM_005456		Approved	IB1, JIP-1, JIP1	uc001nbr.3	Q9UQF2	OTTHUMG00000134324	ENST00000241014.2:c.917G>A	11.37:g.45924235G>A	ENSP00000241014:p.Arg306Gln	Somatic		Capture	Illumina HiSeq	Phase_I	45880811	D3DQP4|O43407	Missense_Mutation	SNP	ENST00000241014.2	37	CCDS7916.1	.	.	.	.	.	.	.	.	.	.	G	21.2	4.110548	0.77210	.	.	ENSG00000121653	ENST00000241014;ENST00000395629	T;T	0.39787	1.06;1.08	4.58	4.58	0.56647	.	0.058859	0.64402	D	0.000002	T	0.50820	0.1638	N	0.19112	0.55	0.58432	D	0.99999	D	0.89917	1.0	D	0.79108	0.992	T	0.57260	-0.7842	10	0.62326	D	0.03	-27.4477	17.9065	0.88919	0.0:0.0:1.0:0.0	.	306	Q9UQF2	JIP1_HUMAN	Q	306;296	ENSP00000241014:R306Q;ENSP00000378991:R296Q	ENSP00000241014:R306Q	R	+	2	0	MAPK8IP1	45880811	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	6.907000	0.75724	2.541000	0.85698	0.561000	0.74099	CGG		MAPK8IP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259405.1	NM_005456	
ANKRD42	338699	hgsc.bcm.edu	37	11	82936044	82936044	+	Nonsense_Mutation	SNP	T	T	A			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr11:82936044T>A	ENST00000393392.2	+	6	812	c.650T>A	c.(649-651)tTa>tAa	p.L217*	ANKRD42_ENST00000531895.1_Nonsense_Mutation_p.L245*|ANKRD42_ENST00000260047.6_Nonsense_Mutation_p.L244*|ANKRD42_ENST00000533342.1_Nonsense_Mutation_p.L245*	NM_182603.2	NP_872409.2	Q8N9B4	ANR42_HUMAN	ankyrin repeat domain 42	217					positive regulation of cytokine production involved in inflammatory response (GO:1900017)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)	nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	18						CAGAACATTTTACAGTTTATC	0.378																																																	0			11											95.0	101.0	99.0					11																	82936044		2203	4300	6503	82613692	SO:0001587	stop_gained	338699			AK095193	CCDS8265.1, CCDS73355.1, CCDS73356.1	11q14.1	2014-06-12			ENSG00000137494	ENSG00000137494		"""Ankyrin repeat domain containing"""	26752	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 79"""						Standard	XM_005273971		Approved	FLJ37874, SARP, PPP1R79	uc001ozz.1	Q8N9B4	OTTHUMG00000167075	ENST00000393392.2:c.650T>A	11.37:g.82936044T>A	ENSP00000377051:p.Leu217*	Somatic		Capture	Illumina HiSeq	Phase_I	82613692	Q49A49	Nonsense_Mutation	SNP	ENST00000393392.2	37	CCDS8265.1	.	.	.	.	.	.	.	.	.	.	T	41	9.058389	0.99051	.	.	ENSG00000137494	ENST00000545672;ENST00000260047;ENST00000531895;ENST00000393392;ENST00000533342	.	.	.	5.43	5.43	0.79202	.	0.705612	0.12326	N	0.478847	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-0.1351	14.4561	0.67418	0.0:0.0:0.0:1.0	.	.	.	.	X	564;244;245;217;245	.	.	L	+	2	0	ANKRD42	82613692	0.809000	0.29036	0.995000	0.50966	0.198000	0.23893	3.696000	0.54757	2.043000	0.60533	0.460000	0.39030	TTA		ANKRD42-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000392934.1	NM_182603	
PICALM	8301	hgsc.bcm.edu	37	11	85685794	85685794	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr11:85685794A>G	ENST00000393346.3	-	19	2049	c.1901T>C	c.(1900-1902)gTc>gCc	p.V634A	PICALM_ENST00000356360.5_Missense_Mutation_p.V614A|PICALM_ENST00000526033.1_Missense_Mutation_p.V627A|PICALM_ENST00000532317.1_Missense_Mutation_p.V592A|PICALM_ENST00000528398.1_Missense_Mutation_p.V533A			Q13492	PICAL_HUMAN	phosphatidylinositol binding clathrin assembly protein	634					axonogenesis (GO:0007409)|cargo loading into vesicle (GO:0035459)|cell proliferation (GO:0008283)|clathrin coat assembly (GO:0048268)|clathrin-mediated endocytosis (GO:0072583)|dendrite morphogenesis (GO:0048813)|endosomal transport (GO:0016197)|hemopoiesis (GO:0030097)|iron ion homeostasis (GO:0055072)|iron ion import into cell (GO:0097459)|negative regulation of gene expression (GO:0010629)|negative regulation of metalloendopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902963)|negative regulation of receptor-mediated endocytosis (GO:0048261)|positive regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902961)|positive regulation of beta-amyloid formation (GO:1902004)|positive regulation of neuron death (GO:1901216)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)|regulation of aspartic-type endopeptidase activity involved in amyloid precursor protein catabolic process (GO:1902959)|regulation of endocytosis (GO:0030100)|regulation of protein localization (GO:0032880)|synaptic vesicle maturation (GO:0016188)|vesicle-mediated transport (GO:0016192)	clathrin coat (GO:0030118)|coated pit (GO:0005905)|cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|neurofibrillary tangle (GO:0097418)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|vesicle (GO:0031982)	1-phosphatidylinositol binding (GO:0005545)|clathrin adaptor activity (GO:0035615)|clathrin binding (GO:0030276)|clathrin heavy chain binding (GO:0032050)			endometrium(1)|kidney(2)|large_intestine(2)|liver(1)|lung(10)|ovary(1)|skin(1)|urinary_tract(1)	19		Acute lymphoblastic leukemia(157;7.42e-07)|all_hematologic(158;0.00092)				AGGTCTCATGACAGGCTGGCT	0.408			T	"""MLLT10, MLL"""	"""TALL, AML, """																																			Dom	yes		11	11q14	8301	phosphatidylinositol binding clathrin assembly protein (CALM)		L	0			11											240.0	201.0	214.0					11																	85685794		2203	4299	6502	85363442	SO:0001583	missense	8301			BC048259	CCDS8272.1, CCDS31653.1, CCDS55783.1, CCDS55784.1	11q14	2008-02-01			ENSG00000073921	ENSG00000073921			15514	protein-coding gene	gene with protein product		603025				8643484	Standard	NM_001206947		Approved	CALM, CLTH	uc001pbm.3	Q13492	OTTHUMG00000166981	ENST00000393346.3:c.1901T>C	11.37:g.85685794A>G	ENSP00000377015:p.Val634Ala	Somatic		Capture	Illumina HiSeq	Phase_I	85363442	B4DTM3|E9PN05|F8VPG7|O60700|Q4LE54|Q6GMQ6|Q86XZ9	Missense_Mutation	SNP	ENST00000393346.3	37	CCDS8272.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	15.15|15.15	2.748759|2.748759	0.49257|0.49257	.|.	.|.	ENSG00000073921|ENSG00000073921	ENST00000530692|ENST00000532317;ENST00000526033;ENST00000447890;ENST00000393346;ENST00000528398;ENST00000356360	.|T;T;T;T;T	.|0.54479	.|0.57;0.57;0.57;0.57;0.57	5.87|5.87	5.87|5.87	0.94306|0.94306	.|.	.|0.196377	.|0.43416	.|D	.|0.000577	T|T	0.64327|0.64327	0.2588|0.2588	L|L	0.40543|0.40543	1.245|1.245	0.49299|0.49299	D|D	0.999777|0.999777	.|B;D;B;B;B;B	.|0.58268	.|0.002;0.982;0.005;0.009;0.004;0.016	.|B;D;B;B;B;B	.|0.70227	.|0.006;0.968;0.012;0.017;0.012;0.009	T|T	0.61113|0.61113	-0.7128|-0.7128	5|9	.|.	.|.	.|.	-7.3254|-7.3254	16.5764|16.5764	0.84681|0.84681	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	.|533;219;642;627;634;592	.|E9PN05;B4DLM1;A8MX97;F8VPG7;Q13492;Q13492-3	.|.;.;.;.;PICAL_HUMAN;.	P|A	171|592;627;634;634;533;614	.|ENSP00000436958:V592A;ENSP00000433846:V627A;ENSP00000377015:V634A;ENSP00000434884:V533A;ENSP00000348718:V614A	.|.	S|V	-|-	1|2	0|0	PICALM|PICALM	85363442|85363442	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.992000|0.992000	0.81027|0.81027	6.444000|6.444000	0.73452|0.73452	2.371000|2.371000	0.80710|0.80710	0.533000|0.533000	0.62120|0.62120	TCA|GTC		PICALM-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392224.1	NM_007166	
RDX	5962	hgsc.bcm.edu	37	11	110124794	110124794	+	Missense_Mutation	SNP	C	C	T	rs150863373		TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr11:110124794C>T	ENST00000343115.4	-	9	1155	c.836G>A	c.(835-837)cGg>cAg	p.R279Q	RDX_ENST00000528498.1_Missense_Mutation_p.R279Q|RDX_ENST00000544551.1_Missense_Mutation_p.R143Q|RDX_ENST00000528900.1_Intron|RDX_ENST00000530301.1_Intron|RDX_ENST00000405097.1_Missense_Mutation_p.R279Q	NM_001260494.1|NM_002906.3	NP_001247423.1|NP_002897.1	P35241	RADI_HUMAN	radixin	279	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin filament capping (GO:0051693)|apical protein localization (GO:0045176)|establishment of endothelial barrier (GO:0061028)|microvillus assembly (GO:0030033)|positive regulation of gene expression (GO:0010628)	apical part of cell (GO:0045177)|cell tip (GO:0051286)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|stereocilium (GO:0032420)|T-tubule (GO:0030315)	poly(A) RNA binding (GO:0044822)	p.R279Q(1)		endometrium(3)|kidney(2)|large_intestine(3)|lung(8)|skin(1)|urinary_tract(1)	18		all_cancers(61;7.18e-13)|all_epithelial(67;2.61e-07)|Melanoma(852;1.46e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;3.95e-05)|all_neural(223;0.0281)|Medulloblastoma(222;0.0425)|Breast(348;0.0544)		Epithelial(105;1.13e-06)|BRCA - Breast invasive adenocarcinoma(274;9.75e-06)|all cancers(92;5.9e-05)|OV - Ovarian serous cystadenocarcinoma(223;0.0248)		GGCCAAAATCCGCTTATTGAT	0.383																																					Esophageal Squamous(55;25 1062 11040 28755 44273)												1	Substitution - Missense(1)	kidney(1)	11						C	GLN/ARG	1,4401	2.1+/-5.4	0,1,2200	102.0	90.0	94.0		836	5.7	1.0	11	dbSNP_134	94	0,8596		0,0,4298	yes	missense	RDX	NM_002906.3	43	0,1,6498	TT,TC,CC		0.0,0.0227,0.0077	possibly-damaging	279/584	110124794	1,12997	2201	4298	6499	109630004	SO:0001583	missense	5962			BC020751	CCDS8343.1, CCDS58171.1, CCDS58172.1, CCDS58173.1, CCDS58174.1	11q23	2008-03-17				ENSG00000137710			9944	protein-coding gene	gene with protein product		179410	"""deafness, autosomal recessive 24"""	DFNB24		8486357, 17226784	Standard	NM_001260492		Approved		uc031qdy.1	P35241		ENST00000343115.4:c.836G>A	11.37:g.110124794C>T	ENSP00000342830:p.Arg279Gln	Somatic		Capture	Illumina HiSeq	Phase_I	109630004	A7YIJ8|A7YIK0|A7YIK3|B7Z9U6|F5H1A7|Q86Y61	Missense_Mutation	SNP	ENST00000343115.4	37	CCDS8343.1	.	.	.	.	.	.	.	.	.	.	C	29.5	5.014321	0.93404	2.27E-4	0.0	ENSG00000137710	ENST00000528498;ENST00000429481;ENST00000405097;ENST00000343115;ENST00000544551	D;D;D;D	0.82081	-1.57;-1.57;-1.57;-1.57	5.72	5.72	0.89469	FERM, C-terminal PH-like domain (1);FERM domain (1);Pleckstrin homology-type (1);	0.000000	0.85682	D	0.000000	D	0.89787	0.6816	M	0.81239	2.535	0.80722	D	1	D;D;P	0.69078	0.967;0.997;0.6	B;P;B	0.55112	0.438;0.769;0.194	D	0.89757	0.3944	10	0.51188	T	0.08	.	19.8831	0.96905	0.0:1.0:0.0:0.0	.	143;279;279	F5H1A7;A7YIJ8;P35241	.;.;RADI_HUMAN	Q	279;279;279;279;143	ENSP00000432112:R279Q;ENSP00000384136:R279Q;ENSP00000342830:R279Q;ENSP00000445826:R143Q	ENSP00000342830:R279Q	R	-	2	0	RDX	109630004	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.765000	0.85310	2.705000	0.92388	0.655000	0.94253	CGG		RDX-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000390535.2	NM_002906	
KMT2A	4297	hgsc.bcm.edu	37	11	118368707	118368707	+	Silent	SNP	T	T	C			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr11:118368707T>C	ENST00000389506.5	+	21	5712	c.5712T>C	c.(5710-5712)gcT>gcC	p.A1904A	KMT2A_ENST00000534358.1_Silent_p.A1907A|KMT2A_ENST00000354520.4_Silent_p.A1866A			Q03164	KMT2A_HUMAN	lysine (K)-specific methyltransferase 2A	1904					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|DNA methylation (GO:0006306)|embryonic hemopoiesis (GO:0035162)|histone H3-K4 methylation (GO:0051568)|histone H3-K4 trimethylation (GO:0080182)|histone H4-K16 acetylation (GO:0043984)|negative regulation of cell proliferation (GO:0008285)|positive regulation of cellular response to drug (GO:2001040)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transporter activity (GO:0032411)|protein complex assembly (GO:0006461)|regulation of histone H3-K4 methylation (GO:0051569)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone methyltransferase complex (GO:0035097)|MLL1 complex (GO:0071339)|nucleus (GO:0005634)	AT DNA binding (GO:0003680)|chromatin binding (GO:0003682)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|identical protein binding (GO:0042802)|lysine-acetylated histone binding (GO:0070577)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|unmethylated CpG binding (GO:0045322)|zinc ion binding (GO:0008270)										TAAATTGTGCTTTGTGGTCAG	0.388																																																	0			11											160.0	151.0	154.0					11																	118368707		2200	4296	6496	117873917	SO:0001819	synonymous_variant	4297			L04284	CCDS31686.1, CCDS55791.1	11q23	2014-09-17	2013-05-09	2013-05-09	ENSG00000118058	ENSG00000118058		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7132	protein-coding gene	gene with protein product		159555	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog)"", ""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila)"""	MLL		1720549	Standard	NM_001197104		Approved	TRX1, HRX, ALL-1, HTRX1, CXXC7, MLL1A		Q03164	OTTHUMG00000166337	ENST00000389506.5:c.5712T>C	11.37:g.118368707T>C		Somatic		Capture	Illumina HiSeq	Phase_I	117873917	E9PQG7|Q13743|Q13744|Q14845|Q16364|Q59FF2|Q6UBD1|Q9HBJ3|Q9UD94|Q9UMA3	Silent	SNP	ENST00000389506.5	37	CCDS31686.1																																																																																				KMT2A-015	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000399085.2	NM_005933	
MFRP	83552	hgsc.bcm.edu	37	11	119213328	119213328	+	Silent	SNP	G	G	A			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr11:119213328G>A	ENST00000530681.1	-	11	1509	c.1365C>T	c.(1363-1365)agC>agT	p.S455S	MFRP_ENST00000360167.4_Missense_Mutation_p.A380V|C1QTNF5_ENST00000525657.1_5'Flank|MFRP_ENST00000529147.1_5'Flank|C1QTNF5_ENST00000445041.2_5'UTR|C1QTNF5_ENST00000528368.1_5'Flank|MFRP_ENST00000555262.1_Silent_p.S455S|MFRP_ENST00000449574.2_Silent_p.S455S	NM_001278431.1	NP_001265360.1	Q9BY79	MFRP_HUMAN	membrane frizzled-related protein	455	LDL-receptor class A 2. {ECO:0000255|PROSITE-ProRule:PRU00124}.				embryo development (GO:0009790)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)|urinary_tract(1)	18		Medulloblastoma(222;0.0523)|Breast(348;0.174)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;3.84e-05)		ACAAGGGGCCGCTGCAGTTGT	0.632																																																	0			11											80.0	79.0	79.0					11																	119213328		2199	4295	6494	118718538	SO:0001819	synonymous_variant	83552			AB055505	CCDS8421.1	11q23.3	2014-01-28			ENSG00000235718	ENSG00000235718			18121	protein-coding gene	gene with protein product	"""membrane-type frizzled-related protein"", ""complement C1q tumor necrosis factor-related protein 5 precursor variant 1"""	606227				11263980	Standard	NM_031433		Approved	FLJ30570, rd6, NNO2, C1QTNF5	uc001pwj.2	Q9BY79		ENST00000530681.1:c.1365C>T	11.37:g.119213328G>A		Somatic		Capture	Illumina HiSeq	Phase_I	118718538	B0YJ36|B0YJ37|B4DHN8|Q335M3|Q96DQ9	Silent	SNP	ENST00000530681.1	37	CCDS8421.1	.	.	.	.	.	.	.	.	.	.	G	9.097	1.003243	0.19121	.	.	ENSG00000235718	ENST00000360167	T	0.76186	-1.0	5.3	5.3	0.74995	.	.	.	.	.	T	0.65760	0.2722	.	.	.	0.80722	D	1	P	0.48016	0.904	B	0.41374	0.355	T	0.63580	-0.6605	8	0.15952	T	0.53	-12.1788	17.534	0.87822	0.0:0.0:1.0:0.0	.	380	B4DHN8	.	V	380	ENSP00000353291:A380V	ENSP00000353291:A380V	A	-	2	0	MFRP	118718538	0.135000	0.22499	0.849000	0.33467	0.534000	0.34807	0.937000	0.28951	2.469000	0.83416	0.561000	0.74099	GCG		MFRP-001	KNOWN	basic|appris_principal|readthrough_transcript|CCDS	nonsense_mediated_decay	protein_coding	OTTHUMT00000415179.1	NM_031433	
DUSP22	56940	hgsc.bcm.edu	37	6	348156	348156	+	Missense_Mutation	SNP	T	T	C			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr6:348156T>C	ENST00000344450.5	+	6	760	c.317T>C	c.(316-318)gTc>gCc	p.V106A	DUSP22_ENST00000605035.1_Missense_Mutation_p.V3A|DUSP22_ENST00000605315.1_Missense_Mutation_p.V3A|DUSP22_ENST00000604971.1_Missense_Mutation_p.V3A|DUSP22_ENST00000419235.2_Missense_Mutation_p.V106A|DUSP22_ENST00000605863.1_Missense_Mutation_p.V3A|DUSP22_ENST00000603453.1_Missense_Mutation_p.V3A	NM_020185.3	NP_064570.1	Q9NRW4	DUS22_HUMAN	dual specificity phosphatase 22	106	Tyrosine-protein phosphatase.				apoptotic process (GO:0006915)|cell proliferation (GO:0008283)|inactivation of MAPK activity (GO:0000188)|multicellular organismal development (GO:0007275)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of JNK cascade (GO:0046330)|protein dephosphorylation (GO:0006470)|regulation of cell proliferation (GO:0042127)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(16)|ovary(1)|skin(2)	26	all_hematologic(77;0.228)	Breast(5;0.0249)|all_hematologic(90;0.0489)		OV - Ovarian serous cystadenocarcinoma(45;0.0277)|BRCA - Breast invasive adenocarcinoma(62;0.0669)		ATCATGACCGTCACTGACTTT	0.602																																																	0			6											193.0	175.0	181.0					6																	348156		2203	4300	6503	293156	SO:0001583	missense	56940			AF165519	CCDS4468.1, CCDS69035.1	6p25.3	2013-09-19			ENSG00000112679	ENSG00000112679		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Atypical dual specificity phosphatases"""	16077	protein-coding gene	gene with protein product						9205128, 11717427	Standard	NM_001286555		Approved	MKPX, JSP1, JKAP, VHX	uc003msx.3	Q9NRW4	OTTHUMG00000014113	ENST00000344450.5:c.317T>C	6.37:g.348156T>C	ENSP00000345281:p.Val106Ala	Somatic		Capture	Illumina HiSeq	Phase_I	293156	B4DK56|Q59GW2|Q5VWR2|Q96AR1	Missense_Mutation	SNP	ENST00000344450.5	37	CCDS4468.1	.	.	.	.	.	.	.	.	.	.	T	24.2	4.499891	0.85176	.	.	ENSG00000112679	ENST00000344450	D	0.85484	-1.99	5.82	5.82	0.92795	Dual specificity phosphatase, catalytic domain (1);Protein-tyrosine/Dual-specificity phosphatase (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.259964	0.34200	N	0.004176	D	0.83431	0.5253	L	0.55213	1.73	0.52501	D	0.999958	B;P;P	0.51147	0.04;0.942;0.942	B;P;P	0.57468	0.108;0.821;0.766	T	0.81699	-0.0814	10	0.10377	T	0.69	.	16.1697	0.81793	0.0:0.0:0.0:1.0	.	106;63;106	Q9NRW4-2;B3KSA8;Q9NRW4	.;.;DUS22_HUMAN	A	106	ENSP00000345281:V106A	ENSP00000345281:V106A	V	+	2	0	DUSP22	293156	1.000000	0.71417	1.000000	0.80357	0.605000	0.37080	6.229000	0.72294	2.221000	0.72209	0.533000	0.62120	GTC		DUSP22-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000039621.1	NM_020185	
ZNF184	7738	hgsc.bcm.edu	37	6	27420014	27420014	+	Missense_Mutation	SNP	C	C	A			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr6:27420014C>A	ENST00000211936.6	-	6	1608	c.1324G>T	c.(1324-1326)Ggg>Tgg	p.G442W	ZNF184_ENST00000377419.1_Missense_Mutation_p.G442W	NM_007149.2	NP_009080.2	Q99676	ZN184_HUMAN	zinc finger protein 184	442					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(4)|kidney(9)|large_intestine(13)|lung(14)|ovary(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	48						GGTTTCTCCCCAGTATGAGTT	0.403																																																	0			6											85.0	85.0	85.0					6																	27420014		2203	4300	6503	27527993	SO:0001583	missense	7738			U66561	CCDS4624.1	6p21.3	2013-01-08	2006-06-28		ENSG00000096654	ENSG00000096654		"""Zinc fingers, C2H2-type"", ""-"""	12975	protein-coding gene	gene with protein product		602277	"""zinc finger protein 184 (Kruppel-like)"""				Standard	NM_007149		Approved		uc003nji.3	Q99676	OTTHUMG00000014478	ENST00000211936.6:c.1324G>T	6.37:g.27420014C>A	ENSP00000211936:p.Gly442Trp	Somatic		Capture	Illumina HiSeq	Phase_I	27527993	B2R715|O60792|Q8TBA9	Missense_Mutation	SNP	ENST00000211936.6	37	CCDS4624.1	.	.	.	.	.	.	.	.	.	.	C	16.71	3.198781	0.58126	.	.	ENSG00000096654	ENST00000211936;ENST00000377419	T;T	0.26810	1.71;1.71	5.27	4.38	0.52667	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.50627	D	0.000117	T	0.53786	0.1818	H	0.94808	3.585	0.44061	D	0.996807	D	0.89917	1.0	D	0.91635	0.999	T	0.64101	-0.6486	10	0.87932	D	0	.	12.0054	0.53257	0.0:0.9139:0.0:0.0861	.	442	Q99676	ZN184_HUMAN	W	442	ENSP00000211936:G442W;ENSP00000366636:G442W	ENSP00000211936:G442W	G	-	1	0	ZNF184	27527993	0.225000	0.23685	0.975000	0.42487	0.999000	0.98932	2.424000	0.44714	2.744000	0.94065	0.655000	0.94253	GGG		ZNF184-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040146.1	NM_007149	
OR10C1	442194	hgsc.bcm.edu	37	6	29408114	29408114	+	Missense_Mutation	SNP	G	G	A			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr6:29408114G>A	ENST00000444197.2	+	1	1032	c.322G>A	c.(322-324)Gcc>Acc	p.A108T	OR11A1_ENST00000377149.1_Intron	NM_013941.3	NP_039229.3	Q96KK4	O10C1_HUMAN	olfactory receptor, family 10, subfamily C, member 1 (gene/pseudogene)	108						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(2)|kidney(1)|large_intestine(3)|liver(2)|lung(14)|ovary(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						CTTCTTTGGCGCCACGGAGTG	0.607																																																	0			6											77.0	79.0	79.0					6																	29408114		1510	2709	4219	29516093	SO:0001583	missense	442194				CCDS34364.1	6p22.2-p21.31	2013-10-10	2013-10-10		ENSG00000206474	ENSG00000206474		"""GPCR / Class A : Olfactory receptors"""	8165	protein-coding gene	gene with protein product			"""olfactory receptor, family 10, subfamily C, member 2"", ""olfactory receptor, family 10, subfamily C, member 1"""	OR10C2			Standard	NM_013941		Approved	hs6M1-17, OR10C1P	uc011dlp.2	Q96KK4	OTTHUMG00000031207	ENST00000444197.2:c.322G>A	6.37:g.29408114G>A	ENSP00000419119:p.Ala108Thr	Somatic		Capture	Illumina HiSeq	Phase_I	29516093	Q5SUN7|Q96R18	Missense_Mutation	SNP	ENST00000444197.2	37	CCDS34364.1	.	.	.	.	.	.	.	.	.	.	G	5.706	0.314869	0.10789	.	.	ENSG00000206474	ENST00000444197	T	0.02050	4.48	3.1	2.22	0.28083	GPCR, rhodopsin-like superfamily (1);	0.000000	0.38897	N	0.001525	T	0.00496	0.0016	N	0.21545	0.675	0.09310	N	1	P	0.39352	0.669	B	0.27380	0.079	T	0.52593	-0.8555	10	0.35671	T	0.21	.	7.1879	0.25809	0.2339:0.0:0.7661:0.0	.	108	Q96KK4	O10C1_HUMAN	T	108	ENSP00000419119:A108T	ENSP00000419119:A108T	A	+	1	0	OR10C1	29516093	0.000000	0.05858	0.019000	0.16419	0.650000	0.38633	0.281000	0.18810	0.632000	0.30432	0.186000	0.17326	GCC		OR10C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076415.2		
CDC5L	988	hgsc.bcm.edu	37	6	44387288	44387288	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr6:44387288C>T	ENST00000371477.3	+	9	1494	c.1195C>T	c.(1195-1197)Cga>Tga	p.R399*		NM_001253.3	NP_001244.1	Q99459	CDC5L_HUMAN	cell division cycle 5-like	399	Interaction with PPP1R8.				cell cycle (GO:0007049)|mRNA splicing, via spliceosome (GO:0000398)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)|Prp19 complex (GO:0000974)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)|WD40-repeat domain binding (GO:0071987)			breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(3)|lung(14)|ovary(1)|skin(4)	29	all_lung(25;0.00433)|Ovarian(13;0.0273)|all_hematologic(164;0.208)		Colorectal(64;0.00337)|COAD - Colon adenocarcinoma(64;0.00536)			AACTCCACAGCGACAAGTTGT	0.428																																																	0			6											160.0	142.0	148.0					6																	44387288		2203	4300	6503	44495266	SO:0001587	stop_gained	988			D85423	CCDS4912.1	6p21.1	2013-01-17	2013-01-17		ENSG00000096401	ENSG00000096401			1743	protein-coding gene	gene with protein product		602868	"""CDC5 (cell division cycle 5, S. pombe, homolog)-like"", ""CDC5 cell division cycle 5-like (S. pombe)"""			9598309, 9038199	Standard	NM_001253		Approved	PCDC5RP, hCDC5, CEF1, CDC5	uc003oxl.3	Q99459	OTTHUMG00000014767	ENST00000371477.3:c.1195C>T	6.37:g.44387288C>T	ENSP00000360532:p.Arg399*	Somatic		Capture	Illumina HiSeq	Phase_I	44495266	Q76N46|Q99974	Nonsense_Mutation	SNP	ENST00000371477.3	37	CCDS4912.1	.	.	.	.	.	.	.	.	.	.	C	40	8.209698	0.98706	.	.	ENSG00000096401	ENST00000371477	.	.	.	5.57	3.7	0.42460	.	0.050209	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.512	9.7057	0.40214	0.4075:0.4828:0.1097:0.0	.	.	.	.	X	399	.	ENSP00000360532:R399X	R	+	1	2	CDC5L	44495266	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.027000	0.41078	1.312000	0.45043	0.563000	0.77884	CGA		CDC5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040743.1		
EFHC1	114327	hgsc.bcm.edu	37	6	52317601	52317601	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr6:52317601A>G	ENST00000371068.5	+	4	792	c.689A>G	c.(688-690)gAt>gGt	p.D230G	EFHC1_ENST00000538167.1_Missense_Mutation_p.D211G|EFHC1_ENST00000433625.2_Missense_Mutation_p.D139G	NM_018100.3	NP_060570.2	Q5JVL4	EFHC1_HUMAN	EF-hand domain (C-terminal) containing 1	230						axoneme (GO:0005930)|neuronal cell body (GO:0043025)	calcium ion binding (GO:0005509)|protein C-terminus binding (GO:0008022)			breast(3)|central_nervous_system(1)|endometrium(4)|large_intestine(8)|lung(6)|ovary(2)|pancreas(1)|prostate(1)|skin(1)	27	Lung NSC(77;0.109)					TCAGACTTTGATCAACTCAAG	0.398																																																	0			6											155.0	148.0	150.0					6																	52317601		2203	4300	6503	52425560	SO:0001583	missense	114327			AK001328	CCDS4942.1, CCDS55021.1	6p12.3	2014-02-04			ENSG00000096093	ENSG00000096093		"""EF-hand domain containing"""	16406	protein-coding gene	gene with protein product	"""myoclonin-1"""	608815	"""epilepsy, juvenile myoclonic 1"""	EJM1, EJM		15258581	Standard	NM_018100		Approved	FLJ10466	uc003pap.4	Q5JVL4	OTTHUMG00000014848	ENST00000371068.5:c.689A>G	6.37:g.52317601A>G	ENSP00000360107:p.Asp230Gly	Somatic		Capture	Illumina HiSeq	Phase_I	52425560	B4DMU3|F5GZD8|Q5XKM4|Q6E1U7|Q6E1U8|Q8WUL2|Q9NVW6	Missense_Mutation	SNP	ENST00000371068.5	37	CCDS4942.1	.	.	.	.	.	.	.	.	.	.	A	24.8	4.573303	0.86542	.	.	ENSG00000096093	ENST00000371068;ENST00000433625;ENST00000538167	T;T;T	0.70631	-0.28;-0.5;-0.49	6.01	6.01	0.97437	.	0.084947	0.85682	D	0.000000	D	0.82825	0.5121	M	0.83774	2.66	0.49483	D	0.999796	D;P;P	0.89917	1.0;0.928;0.803	D;P;B	0.77557	0.99;0.609;0.41	D	0.85557	0.1225	10	0.72032	D	0.01	-13.4637	16.5205	0.84312	1.0:0.0:0.0:0.0	.	211;139;230	F5GZD8;B7Z2S4;Q5JVL4	.;.;EFHC1_HUMAN	G	230;139;211	ENSP00000360107:D230G;ENSP00000416492:D139G;ENSP00000444521:D211G	ENSP00000360107:D230G	D	+	2	0	EFHC1	52425560	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.246000	0.78247	2.299000	0.77371	0.533000	0.62120	GAT		EFHC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040905.2	NM_018100	
LGSN	51557	hgsc.bcm.edu	37	6	63995630	63995630	+	Silent	SNP	C	C	T			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr6:63995630C>T	ENST00000370657.4	-	3	225	c.192G>A	c.(190-192)ttG>ttA	p.L64L	LGSN_ENST00000370658.5_Silent_p.L64L			Q5TDP6	LGSN_HUMAN	lengsin, lens protein with glutamine synthetase domain	64					glutamine biosynthetic process (GO:0006542)	plasma membrane (GO:0005886)	glutamate-ammonia ligase activity (GO:0004356)	p.L64L(1)		NS(1)|endometrium(2)|large_intestine(5)|lung(16)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	34						GAGGTGGGGTCAAAATTTGAC	0.438																																																	1	Substitution - coding silent(1)	skin(1)	6											103.0	95.0	97.0					6																	63995630		2203	4300	6503	64053589	SO:0001819	synonymous_variant	51557			AF242388	CCDS4964.1, CCDS55027.1	6q12	2013-09-19	2008-09-19	2008-09-19	ENSG00000146166	ENSG00000146166			21016	protein-coding gene	gene with protein product		611470	"""glutamate-ammonia ligase (glutamine synthetase) domain containing 1"""	GLULD1		12107412	Standard	NM_016571		Approved	LGS	uc003peh.3	Q5TDP6	OTTHUMG00000014946	ENST00000370657.4:c.192G>A	6.37:g.63995630C>T		Somatic		Capture	Illumina HiSeq	Phase_I	64053589	A1L421|Q0PVN9|Q0PVP0|Q9NYJ0	Silent	SNP	ENST00000370657.4	37	CCDS4964.1																																																																																				LGSN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041076.2	NM_016571	
IMPG1	3617	hgsc.bcm.edu	37	6	76751711	76751711	+	Missense_Mutation	SNP	C	C	T			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr6:76751711C>T	ENST00000369950.3	-	2	389	c.200G>A	c.(199-201)cGa>cAa	p.R67Q	IMPG1_ENST00000369963.3_Intron	NM_001282368.1|NM_001563.2	NP_001269297.1|NP_001554.2			interphotoreceptor matrix proteoglycan 1											breast(5)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(8)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	63		Acute lymphoblastic leukemia(125;0.0418)|all_hematologic(105;0.222)				TCTTTTTGTTCGATGCTTTGC	0.363																																					Pancreas(37;839 1141 2599 26037)												0			6											162.0	154.0	156.0					6																	76751711		2203	4300	6503	76808431	SO:0001583	missense	3617			AF017776	CCDS4985.1, CCDS75483.1	6q14.2-q15	2008-02-05	2004-05-25		ENSG00000112706	ENSG00000112706			6055	protein-coding gene	gene with protein product		602870	"""sialoprotein associated with cones and rods"""	SPACR			Standard	NM_001282368		Approved	IPM150, GP147	uc003pik.1	Q17R60	OTTHUMG00000015063	ENST00000369950.3:c.200G>A	6.37:g.76751711C>T	ENSP00000358966:p.Arg67Gln	Somatic		Capture	Illumina HiSeq	Phase_I	76808431		Missense_Mutation	SNP	ENST00000369950.3	37	CCDS4985.1	.	.	.	.	.	.	.	.	.	.	C	32	5.115017	0.94339	.	.	ENSG00000112706	ENST00000369950	T	0.79554	-1.28	6.07	5.21	0.72293	.	0.125602	0.36591	N	0.002519	D	0.88012	0.6323	M	0.82323	2.585	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	D	0.89237	0.3581	9	.	.	.	.	15.5075	0.75753	0.0:0.9339:0.0:0.0661	.	67	Q17R60	IMPG1_HUMAN	Q	67	ENSP00000358966:R67Q	.	R	-	2	0	IMPG1	76808431	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.573000	0.53856	1.581000	0.49865	0.655000	0.94253	CGA		IMPG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041288.1	NM_001563	
IBTK	25998	hgsc.bcm.edu	37	6	82922424	82922424	+	Splice_Site	SNP	C	C	T			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr6:82922424C>T	ENST00000306270.7	-	13	2840	c.2291G>A	c.(2290-2292)tGt>tAt	p.C764Y	IBTK_ENST00000510291.1_Splice_Site_p.C764Y|RNU6-130P_ENST00000411112.1_RNA|IBTK_ENST00000503631.1_Splice_Site_p.C563Y	NM_015525.2	NP_056340.2	Q9P2D0	IBTK_HUMAN	inhibitor of Bruton agammaglobulinemia tyrosine kinase	764					negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein tyrosine kinase activity (GO:0061099)|release of sequestered calcium ion into cytosol (GO:0051209)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine kinase inhibitor activity (GO:0030292)	p.C764S(1)		central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(10)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	54		all_cancers(76;3.38e-06)|Acute lymphoblastic leukemia(125;3.41e-06)|all_hematologic(105;0.000865)|all_epithelial(107;0.0037)		BRCA - Breast invasive adenocarcinoma(397;0.0901)		CCTTACTTACCATTTTTTCTG	0.333																																																	1	Substitution - Missense(1)	central_nervous_system(1)	6											180.0	160.0	167.0					6																	82922424		2203	4299	6502	82979143	SO:0001630	splice_region_variant	25998			AF235049	CCDS34490.1, CCDS75486.1	6q14.3	2013-01-10	2003-10-06	2003-10-08	ENSG00000005700	ENSG00000005700		"""BTB/POZ domain containing"", ""Ankyrin repeat domain containing"""	17853	protein-coding gene	gene with protein product		606457	"""Bruton agammaglobulinemia tyrosine kinase inhibitor"""	BTKI		11577348	Standard	XM_006715453		Approved	DKFZP564B116, BTBD26	uc003pjl.1	Q9P2D0	OTTHUMG00000015102	ENST00000306270.7:c.2291+1G>A	6.37:g.82922424C>T		Somatic		Capture	Illumina HiSeq	Phase_I	82979143	Q2QKU2|Q2QKU3|Q2QKU4|Q5TFD7|Q5TFD9|Q8IUQ9|Q8IUY7|Q8TAI4|Q9HBI8|Q9Y3T8	Missense_Mutation	SNP	ENST00000306270.7	37	CCDS34490.1	.	.	.	.	.	.	.	.	.	.	C	15.89	2.967938	0.53507	.	.	ENSG00000005700	ENST00000306270;ENST00000503631;ENST00000510291	T;T;T	0.70399	-0.48;-0.48;-0.48	5.66	5.66	0.87406	BTB/POZ (1);BTB/POZ fold (2);	0.050926	0.85682	D	0.000000	T	0.72153	0.3425	L	0.28608	0.87	0.80722	D	1	D;D;D;D	0.89917	0.998;1.0;0.998;1.0	D;D;D;D	0.77557	0.987;0.99;0.943;0.99	T	0.68296	-0.5446	9	.	.	.	-14.684	19.6923	0.96007	0.0:1.0:0.0:0.0	.	563;764;764;764	E9PDR5;E7EPI0;Q9P2D0-2;Q9P2D0	.;.;.;IBTK_HUMAN	Y	764;563;764	ENSP00000305721:C764Y;ENSP00000422762:C563Y;ENSP00000426405:C764Y	.	C	-	2	0	IBTK	82979143	1.000000	0.71417	1.000000	0.80357	0.806000	0.45545	6.465000	0.73538	2.830000	0.97506	0.585000	0.79938	TGT		IBTK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041337.2	NM_015525	Missense_Mutation
UST	10090	hgsc.bcm.edu	37	6	149342612	149342612	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr6:149342612A>G	ENST00000367463.4	+	7	1035	c.932A>G	c.(931-933)gAc>gGc	p.D311G		NM_005715.2	NP_005706.1	Q9Y2C2	UST_HUMAN	uronyl-2-sulfotransferase	311					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate metabolic process (GO:0030204)|dermatan sulfate biosynthetic process (GO:0030208)|glycosaminoglycan metabolic process (GO:0030203)|protein sulfation (GO:0006477)|small molecule metabolic process (GO:0044281)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	sulfotransferase activity (GO:0008146)			breast(1)|endometrium(3)|large_intestine(4)|lung(2)|ovary(2)	12		Ovarian(120;0.0907)		OV - Ovarian serous cystadenocarcinoma(155;1.78e-10)|GBM - Glioblastoma multiforme(68;0.138)		ATCTACAAAGACCCAGGTAAC	0.448																																																	0			6											102.0	96.0	98.0					6																	149342612		2203	4300	6503	149384305	SO:0001583	missense	10090			AB020316	CCDS5213.1	6q25.1	2008-02-05			ENSG00000111962	ENSG00000111962		"""Sulfotransferases, membrane-bound"""	17223	protein-coding gene	gene with protein product		610752				10187838	Standard	NM_005715		Approved	2OST	uc003qmg.3	Q9Y2C2	OTTHUMG00000016135	ENST00000367463.4:c.932A>G	6.37:g.149342612A>G	ENSP00000356433:p.Asp311Gly	Somatic		Capture	Illumina HiSeq	Phase_I	149384305	B2RCX6	Missense_Mutation	SNP	ENST00000367463.4	37	CCDS5213.1	.	.	.	.	.	.	.	.	.	.	A	14.82	2.649963	0.47362	.	.	ENSG00000111962	ENST00000367463	T	0.73575	-0.76	5.64	5.64	0.86602	.	0.208451	0.49916	D	0.000133	T	0.54029	0.1833	L	0.29908	0.895	0.39173	D	0.962632	B	0.19445	0.036	B	0.32393	0.145	T	0.53767	-0.8392	10	0.22706	T	0.39	-19.0774	16.1617	0.81721	1.0:0.0:0.0:0.0	.	311	Q9Y2C2	UST_HUMAN	G	311	ENSP00000356433:D311G	ENSP00000356433:D311G	D	+	2	0	UST	149384305	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.020000	0.64066	2.275000	0.75901	0.528000	0.53228	GAC		UST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043363.1	NM_005715	
TAB2	23118	hgsc.bcm.edu	37	6	149699662	149699662	+	Missense_Mutation	SNP	T	T	A			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr6:149699662T>A	ENST00000367456.1	+	4	1188	c.611T>A	c.(610-612)gTa>gAa	p.V204E	TAB2_ENST00000536230.1_Missense_Mutation_p.V172E|TAB2_ENST00000538427.1_Missense_Mutation_p.V204E|TAB2_ENST00000392282.1_Missense_Mutation_p.V204E|TAB2_ENST00000286332.5_Missense_Mutation_p.V204E			Q9NYJ8	TAB2_HUMAN	TGF-beta activated kinase 1/MAP3K7 binding protein 2	204					activation of MAPK activity (GO:0000187)|Fc-epsilon receptor signaling pathway (GO:0038095)|heart development (GO:0007507)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein kinase activity (GO:0045860)|stress-activated MAPK cascade (GO:0051403)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|endosome membrane (GO:0010008)|plasma membrane (GO:0005886)	K63-linked polyubiquitin binding (GO:0070530)|zinc ion binding (GO:0008270)			breast(2)|endometrium(6)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|urinary_tract(1)	22						CCTCCACCTGTACTTAACAGT	0.428																																																	0			6											123.0	121.0	122.0					6																	149699662		2203	4300	6503	149741355	SO:0001583	missense	23118			AF241230	CCDS5214.1	6q25.1	2010-08-05	2010-02-05	2010-02-05	ENSG00000055208	ENSG00000055208			17075	protein-coding gene	gene with protein product		605101	"""mitogen-activated protein kinase kinase kinase 7 interacting protein 2"""	MAP3K7IP2		9872452, 10882101	Standard	XR_250046		Approved	KIAA0733	uc010kib.2	Q9NYJ8	OTTHUMG00000015783	ENST00000367456.1:c.611T>A	6.37:g.149699662T>A	ENSP00000356426:p.Val204Glu	Somatic		Capture	Illumina HiSeq	Phase_I	149741355	B2RCC4|E1P5A0|O94838|Q6I9W8|Q76N06|Q9UFP7	Missense_Mutation	SNP	ENST00000367456.1	37	CCDS5214.1	.	.	.	.	.	.	.	.	.	.	T	0.248	-1.008327	0.02112	.	.	ENSG00000055208	ENST00000536230;ENST00000392282;ENST00000538427;ENST00000367456;ENST00000286332	T;T;T;T;T	0.72835	-0.69;-0.69;-0.68;-0.68;-0.68	5.96	3.58	0.41010	.	0.440056	0.25631	N	0.029342	T	0.28267	0.0698	N	0.08118	0	0.39616	D	0.969967	B;B	0.22604	0.072;0.01	B;B	0.15870	0.008;0.014	T	0.15723	-1.0427	10	0.20519	T	0.43	-10.0088	8.7023	0.34334	0.0:0.0736:0.1406:0.7857	.	172;204	B4DIR9;Q9NYJ8	.;TAB2_HUMAN	E	172;204;204;204;204	ENSP00000443206:V172E;ENSP00000376106:V204E;ENSP00000445752:V204E;ENSP00000356426:V204E;ENSP00000286332:V204E	ENSP00000286332:V204E	V	+	2	0	TAB2	149741355	1.000000	0.71417	1.000000	0.80357	0.069000	0.16628	2.937000	0.48979	2.284000	0.76573	0.528000	0.53228	GTA		TAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042633.3		
PARK2	5071	hgsc.bcm.edu	37	6	161990435	161990435	+	Missense_Mutation	SNP	G	G	T			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr6:161990435G>T	ENST00000366898.1	-	8	987	c.885C>A	c.(883-885)aaC>aaA	p.N295K	PARK2_ENST00000338468.3_Missense_Mutation_p.N104K|PARK2_ENST00000366897.1_Missense_Mutation_p.N267K|PARK2_ENST00000366894.1_Missense_Mutation_p.N104K|PARK2_ENST00000366892.1_Missense_Mutation_p.N295K|PARK2_ENST00000366896.1_Missense_Mutation_p.N146K	NM_004562.2	NP_004553.2	O60260	PRKN2_HUMAN	parkin RBR E3 ubiquitin protein ligase	295					adult locomotory behavior (GO:0008344)|aggresome assembly (GO:0070842)|cell death (GO:0008219)|cellular protein catabolic process (GO:0044257)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to toxic substance (GO:0097237)|cellular response to unfolded protein (GO:0034620)|central nervous system development (GO:0007417)|dopamine metabolic process (GO:0042417)|dopamine uptake involved in synaptic transmission (GO:0051583)|learning (GO:0007612)|mitochondrion degradation (GO:0000422)|negative regulation of actin filament bundle assembly (GO:0032232)|negative regulation of cell death (GO:0060548)|negative regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway (GO:1902236)|negative regulation of glucokinase activity (GO:0033132)|negative regulation of insulin secretion (GO:0046676)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of neuron death (GO:1901215)|negative regulation of oxidative stress-induced cell death (GO:1903202)|negative regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903377)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of release of cytochrome c from mitochondria (GO:0090201)|norepinephrine metabolic process (GO:0042415)|positive regulation of DNA binding (GO:0043388)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of mitochondrial fusion (GO:0010636)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein linear polyubiquitination (GO:1902530)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor-mediated signaling pathway (GO:1903265)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein autoubiquitination (GO:0051865)|protein K27-linked ubiquitination (GO:0044314)|protein K29-linked ubiquitination (GO:0035519)|protein K48-linked ubiquitination (GO:0070936)|protein K6-linked ubiquitination (GO:0085020)|protein K63-linked ubiquitination (GO:0070534)|protein monoubiquitination (GO:0006513)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of autophagy (GO:0010506)|regulation of dopamine secretion (GO:0014059)|regulation of glucose metabolic process (GO:0010906)|regulation of lipid transport (GO:0032368)|regulation of mitochondrion degradation (GO:1903146)|regulation of mitochondrion organization (GO:0010821)|regulation of neurotransmitter secretion (GO:0046928)|regulation of reactive oxygen species metabolic process (GO:2000377)|regulation of synaptic vesicle transport (GO:1902803)|response to endoplasmic reticulum stress (GO:0034976)|startle response (GO:0001964)|synaptic transmission, glutamatergic (GO:0035249)|transcription, DNA-templated (GO:0006351)	aggresome (GO:0016235)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|Lewy body (GO:0097413)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|perinuclear region of cytoplasm (GO:0048471)|ubiquitin ligase complex (GO:0000151)	chaperone binding (GO:0051087)|cullin family protein binding (GO:0097602)|F-box domain binding (GO:1990444)|G-protein coupled receptor binding (GO:0001664)|heat shock protein binding (GO:0031072)|Hsp70 protein binding (GO:0030544)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|ligase activity (GO:0016874)|PDZ domain binding (GO:0030165)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|ubiquitin binding (GO:0043130)|ubiquitin conjugating enzyme binding (GO:0031624)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|ubiquitin-specific protease binding (GO:1990381)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(21)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	39		all_cancers(1;8.13e-65)|all_epithelial(1;5.77e-64)|Colorectal(1;9.65e-15)|all_lung(1;1.66e-13)|Lung NSC(1;7.54e-11)|Melanoma(1;1.75e-09)|Breast(66;7.81e-05)|Ovarian(120;0.000981)|Prostate(117;0.0288)|Esophageal squamous(34;0.102)		UCEC - Uterine corpus endometrioid carcinoma (4;0.0663)|all cancers(1;1.9e-63)|Epithelial(1;1.5e-59)|Colorectal(1;2.16e-23)|OV - Ovarian serous cystadenocarcinoma(65;3.53e-20)|COAD - Colon adenocarcinoma(1;2.11e-15)|STAD - Stomach adenocarcinoma(1;4.64e-07)|BRCA - Breast invasive adenocarcinoma(81;1.49e-06)|READ - Rectum adenocarcinoma(1;2.95e-06)|GBM - Glioblastoma multiforme(2;7.23e-06)|Lung(1;0.00163)|KIRC - Kidney renal clear cell carcinoma(4;0.00371)|LUSC - Lung squamous cell carcinoma(1;0.00442)|Kidney(4;0.0046)		TAATCAAGGAGTTGGGACAGC	0.428																																																	0			6											116.0	111.0	113.0					6																	161990435		2203	4300	6503	161910425	SO:0001583	missense	5071				CCDS5281.1, CCDS5282.1, CCDS5283.1	6q25.2-q27	2013-10-03	2013-10-03		ENSG00000185345	ENSG00000185345		"""Parkinson disease"""	8607	protein-coding gene	gene with protein product	"""E3 ubiquitin ligase"""	602544	"""Parkinson disease (autosomal recessive, juvenile) 2, parkin"", ""parkinson protein 2, E3 ubiquitin protein ligase (parkin)"""			9560156, 9570960	Standard	NM_004562		Approved	PDJ, AR-JP, parkin	uc003qtx.4	O60260	OTTHUMG00000015970	ENST00000366898.1:c.885C>A	6.37:g.161990435G>T	ENSP00000355865:p.Asn295Lys	Somatic		Capture	Illumina HiSeq	Phase_I	161910425	A3FG77|A8K975|D3JZW7|D3K2X0|Q5TFV8|Q5VVX4|Q6Q2I6|Q8NI41|Q8NI43|Q8NI44|Q8WW07	Missense_Mutation	SNP	ENST00000366898.1	37	CCDS5281.1	.	.	.	.	.	.	.	.	.	.	G	14.20	2.465662	0.43839	.	.	ENSG00000185345	ENST00000366898;ENST00000366897;ENST00000366896;ENST00000366894;ENST00000338468;ENST00000392134;ENST00000366892	D;D;D;D;D;D	0.87887	-2.31;-2.31;-2.31;-2.31;-2.31;-2.31	5.11	4.24	0.50183	.	0.208574	0.40818	N	0.001020	T	0.75369	0.3840	M	0.62723	1.935	0.38422	D	0.946217	P;B;P;P;P	0.47762	0.9;0.012;0.611;0.611;0.856	B;B;B;B;B	0.39840	0.311;0.01;0.221;0.221;0.282	T	0.74269	-0.3720	10	0.33141	T	0.24	.	9.2289	0.37425	0.1665:0.0:0.8335:0.0	.	314;146;267;295;104	O60260-5;Q5VVX3;Q5VVX4;O60260;Q8NI42	.;.;.;PRKN2_HUMAN;.	K	295;267;146;104;104;104;295	ENSP00000355865:N295K;ENSP00000355863:N267K;ENSP00000355862:N146K;ENSP00000355860:N104K;ENSP00000343589:N104K;ENSP00000355858:N295K	ENSP00000343589:N104K	N	-	3	2	PARK2	161910425	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	1.306000	0.33505	1.162000	0.42619	-0.148000	0.13756	AAC		PARK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042995.1		
DACT2	168002	hgsc.bcm.edu	37	6	168708816	168708816	+	Missense_Mutation	SNP	T	T	G	rs10945501	byFrequency	TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr6:168708816T>G	ENST00000366795.3	-	4	1709	c.1621A>C	c.(1621-1623)Aca>Cca	p.T541P	DACT2_ENST00000607983.1_Missense_Mutation_p.T133P|DACT2_ENST00000610183.1_Missense_Mutation_p.T371P|DACT2_ENST00000366796.3_Intron	NM_214462.3	NP_999627.2	Q5SW24	DACT2_HUMAN	dishevelled-binding antagonist of beta-catenin 2	541			T -> P (in dbSNP:rs10945501).		epithelial cell morphogenesis (GO:0003382)|hematopoietic progenitor cell differentiation (GO:0002244)|inner medullary collecting duct development (GO:0072061)|negative regulation of cell adhesion (GO:0007162)|negative regulation of nodal signaling pathway (GO:1900108)|skin development (GO:0043588)	mitochondrion (GO:0005739)	beta-catenin binding (GO:0008013)|delta-catenin binding (GO:0070097)|protein kinase A binding (GO:0051018)|protein kinase C binding (GO:0005080)|transcription factor binding (GO:0008134)			endometrium(1)	1		Breast(66;1.46e-05)|Ovarian(120;0.0728)		OV - Ovarian serous cystadenocarcinoma(33;5.33e-21)|BRCA - Breast invasive adenocarcinoma(81;1.18e-06)|GBM - Glioblastoma multiforme(31;0.000957)		CCCCTCCCTGTGGGCCAGTGG	0.701													G|||	2526	0.504393	0.7905	0.4107	5008	,	,		11834	0.3234		0.3688	False		,,,				2504	0.5102																0			6											8.0	12.0	11.0					6																	168708816		690	1585	2275	168451665	SO:0001583	missense	168002			AF318336	CCDS47519.1, CCDS69241.1, CCDS75554.1	6q27	2013-05-15	2013-05-15	2003-09-17	ENSG00000164488	ENSG00000164488			21231	protein-coding gene	gene with protein product		608966	"""chromosome 6 open reading frame 116"", ""dapper homolog 2, antagonist of beta-catenin (xenopus)"", ""dapper, antagonist of beta-catenin, homolog 2 (Xenopus laevis)"""	C6orf116			Standard	NM_001286351		Approved	bA503C24.7, DAPPER2	uc003qwq.3	Q5SW24	OTTHUMG00000016046	ENST00000366795.3:c.1621A>C	6.37:g.168708816T>G	ENSP00000355760:p.Thr541Pro	Somatic		Capture	Illumina HiSeq	Phase_I	168451665	Q2NKJ2|Q569G0|Q8WYW2	Missense_Mutation	SNP	ENST00000366795.3	37	CCDS47519.1	1004	0.4597069597069597	386	0.7845528455284553	152	0.4198895027624309	197	0.34440559440559443	269	0.3548812664907652	G	4.150	0.026308	0.08054	.	.	ENSG00000164488	ENST00000366795	T	0.41758	0.99	3.05	2.17	0.27698	.	1.930070	0.03734	N	0.253953	T	0.03871	0.0109	N	0.00729	-1.24	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.19160	-1.0314	9	0.18276	T	0.48	.	4.6907	0.12780	0.1176:0.0:0.6679:0.2145	rs10945501	541	Q5SW24	DACT2_HUMAN	P	541	ENSP00000355760:T541P	ENSP00000355760:T541P	T	-	1	0	DACT2	168451665	0.016000	0.18221	0.003000	0.11579	0.001000	0.01503	1.035000	0.30216	0.060000	0.16281	-0.225000	0.12378	ACA		DACT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043193.1		
TP53	7157	hgsc.bcm.edu	37	17	7578263	7578263	+	Nonsense_Mutation	SNP	G	G	A	rs397516435		TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr17:7578263G>A	ENST00000269305.4	-	6	775	c.586C>T	c.(586-588)Cga>Tga	p.R196*	TP53_ENST00000455263.2_Nonsense_Mutation_p.R196*|TP53_ENST00000445888.2_Nonsense_Mutation_p.R196*|TP53_ENST00000420246.2_Nonsense_Mutation_p.R196*|TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Nonsense_Mutation_p.R196*|TP53_ENST00000413465.2_Nonsense_Mutation_p.R196*	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	196	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		R -> G (in sporadic cancers; somatic mutation).|R -> L (in sporadic cancers; somatic mutation).|R -> P (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a sporadic cancer; somatic mutation).		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.R196*(167)|p.R64*(14)|p.R103*(14)|p.0?(8)|p.R196fs*51(7)|p.?(5)|p.A189_V197delAPPQHLIRV(4)|p.P191_E198>Q(3)|p.R196R(2)|p.I195fs*50(1)|p.R64fs*>27(1)|p.R103fs*51(1)|p.P191fs*6(1)|p.I195_G199delIRVEG(1)|p.P98_E105>Q(1)|p.I195fs*12(1)|p.P59_E66>Q(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)	CCTTCCACTCGGATAAGATGC	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"""	232	Substitution - Nonsense(195)|Deletion - Frameshift(11)|Whole gene deletion(8)|Deletion - In frame(5)|Complex - deletion inframe(5)|Unknown(5)|Substitution - coding silent(2)|Complex - frameshift(1)	large_intestine(54)|breast(29)|upper_aerodigestive_tract(22)|lung(22)|haematopoietic_and_lymphoid_tissue(17)|skin(17)|biliary_tract(11)|central_nervous_system(11)|oesophagus(11)|ovary(11)|stomach(8)|urinary_tract(7)|bone(4)|liver(3)|pancreas(3)|eye(1)|kidney(1)	17	GRCh37	CM941329	TP53	M							102.0	91.0	94.0					17																	7578263		2203	4300	6503	7518988	SO:0001587	stop_gained	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.586C>T	17.37:g.7578263G>A	ENSP00000269305:p.Arg196*	Somatic		Capture	Illumina HiSeq	Phase_I	7518988	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	Nonsense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	14.02	2.409843	0.42715	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944;ENST00000414315	.	.	.	5.41	4.44	0.53790	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-19.9531	12.3046	0.54895	0.0827:0.0:0.9173:0.0	.	.	.	.	X	196;196;196;196;196;196;185;103;64;103;64	.	ENSP00000269305:R196X	R	-	1	2	TP53	7518988	1.000000	0.71417	0.997000	0.53966	0.023000	0.10783	2.166000	0.42406	1.427000	0.47276	-0.140000	0.14226	CGA		TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
NF1	4763	hgsc.bcm.edu	37	17	29496967	29496967	+	Silent	SNP	T	T	C			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr17:29496967T>C	ENST00000358273.4	+	5	921	c.538T>C	c.(538-540)Tta>Cta	p.L180L	NF1_ENST00000356175.3_Silent_p.L180L|NF1_ENST00000431387.4_Silent_p.L180L	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	180					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)|p.E178_D186del(1)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		TATAGAATTGTTACAGTATAT	0.274			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																													yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	13	Whole gene deletion(8)|Unknown(4)|Deletion - In frame(1)	soft_tissue(8)|autonomic_ganglia(3)|central_nervous_system(2)	17											91.0	91.0	91.0					17																	29496967		2203	4299	6502	26521093	SO:0001819	synonymous_variant	4763	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.538T>C	17.37:g.29496967T>C		Somatic		Capture	Illumina HiSeq	Phase_I	26521093	O00662|Q14284|Q14930|Q14931|Q9UMK3	Silent	SNP	ENST00000358273.4	37	CCDS42292.1																																																																																				NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267	
CDK12	51755	hgsc.bcm.edu	37	17	37650863	37650863	+	Missense_Mutation	SNP	C	C	T			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr17:37650863C>T	ENST00000447079.4	+	5	2368	c.2335C>T	c.(2335-2337)Cgt>Tgt	p.R779C	CDK12_ENST00000430627.2_Missense_Mutation_p.R779C	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	779	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						CAAAATCCTTCGTCAGTTAat	0.408			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)																														Rec	yes		17	17q12	51755	cyclin-dependent kinase 12		E	0			17											75.0	66.0	69.0					17																	37650863		2203	4300	6503	34904389	SO:0001583	missense	0			AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"""Cyclin-dependent kinases"""	24224	protein-coding gene	gene with protein product	"""CDC2 related protein kinase 7"""	615514	"""Cdc2-related kinase, arginine/serine-rich"""	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.2335C>T	17.37:g.37650863C>T	ENSP00000398880:p.Arg779Cys	Somatic		Capture	Illumina HiSeq	Phase_I	34904389	A7E2B2|B4DYX4|B9EIQ6|O94978	Missense_Mutation	SNP	ENST00000447079.4	37	CCDS11337.1	.	.	.	.	.	.	.	.	.	.	C	19.77	3.889860	0.72524	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	T;T	0.67698	-0.28;-0.28	5.23	5.23	0.72850	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.48767	D	0.000162	T	0.81978	0.4937	M	0.72353	2.195	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.999;0.998	D	0.83707	0.0185	10	0.87932	D	0	-8.3296	19.1644	0.93548	0.0:1.0:0.0:0.0	.	778;779;779	E7EUM9;Q9NYV4;Q9NYV4-2	.;CDK12_HUMAN;.	C	779	ENSP00000407720:R779C;ENSP00000398880:R779C	ENSP00000407720:R779C	R	+	1	0	CDK12	34904389	1.000000	0.71417	1.000000	0.80357	0.973000	0.67179	3.720000	0.54933	2.601000	0.87937	0.561000	0.74099	CGT		CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507	
CCDC40	55036	hgsc.bcm.edu	37	17	78014023	78014023	+	Missense_Mutation	SNP	C	C	T	rs369066468		TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr17:78014023C>T	ENST00000397545.4	+	3	533	c.506C>T	c.(505-507)tCg>tTg	p.S169L	CCDC40_ENST00000374877.3_Missense_Mutation_p.S169L|CCDC40_ENST00000374876.4_Missense_Mutation_p.S169L|CCDC40_ENST00000269318.5_Missense_Mutation_p.S169L	NM_017950.3	NP_060420.2	Q4G0X9	CCD40_HUMAN	coiled-coil domain containing 40	169					axonemal dynein complex assembly (GO:0070286)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|epithelial cilium movement (GO:0003351)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|heart looping (GO:0001947)|lung development (GO:0030324)|regulation of cilium beat frequency (GO:0003356)	cilium (GO:0005929)|cytoplasm (GO:0005737)				NS(1)|breast(1)|endometrium(4)|kidney(4)|large_intestine(7)|lung(12)|ovary(4)|prostate(1)|skin(2)|stomach(1)|urinary_tract(1)	38	all_neural(118;0.167)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.149)			TTAGGCCCGTCGGAGCAAATG	0.617																																																	0			17						C	LEU/SER	0,3942		0,0,1971	30.0	34.0	33.0		506	0.2	0.0	17		33	1,8319		0,1,4159	no	missense	CCDC40	NM_017950.3	145	0,1,6130	TT,TC,CC		0.012,0.0,0.0082	benign	169/1143	78014023	1,12261	1971	4160	6131	75628618	SO:0001583	missense	55036			AB046860	CCDS42395.1, CCDS58604.1	17q25.3	2013-11-15			ENSG00000141519	ENSG00000141519			26090	protein-coding gene	gene with protein product		613799				21131974	Standard	NM_017950		Approved	FLJ20753, KIAA1640, FLJ32021, CILD15, FAP172	uc010dht.3	Q4G0X9	OTTHUMG00000132707	ENST00000397545.4:c.506C>T	17.37:g.78014023C>T	ENSP00000380679:p.Ser169Leu	Somatic		Capture	Illumina HiSeq	Phase_I	75628618	A8MTD2|C9JTI9|C9JTJ0|C9JXW1|Q6PE47|Q9HCD2|Q9NWL5	Missense_Mutation	SNP	ENST00000397545.4	37	CCDS42395.1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.242838	0.39598	0.0	1.2E-4	ENSG00000141519	ENST00000374877;ENST00000269318;ENST00000374876;ENST00000397545	T;T;T;T	0.59502	0.3;0.26;0.29;0.38	2.22	0.194	0.15143	.	.	.	.	.	T	0.39226	0.1070	L	0.27053	0.805	0.09310	N	1	B;B	0.12013	0.005;0.001	B;B	0.12156	0.007;0.001	T	0.29458	-1.0011	9	0.54805	T	0.06	.	4.5223	0.11964	0.0:0.6662:0.0:0.3338	.	169;169	Q4G0X9-5;Q4G0X9	.;CCD40_HUMAN	L	169	ENSP00000364011:S169L;ENSP00000269318:S169L;ENSP00000364010:S169L;ENSP00000380679:S169L	ENSP00000269318:S169L	S	+	2	0	CCDC40	75628618	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.221000	0.17680	0.093000	0.17368	-0.123000	0.14984	TCG		CCDC40-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256005.2	XM_371082	
RPTOR	57521	hgsc.bcm.edu	37	17	78882647	78882647	+	Missense_Mutation	SNP	G	G	T			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr17:78882647G>T	ENST00000306801.3	+	21	2800	c.2438G>T	c.(2437-2439)aGa>aTa	p.R813I	RPTOR_ENST00000575542.1_3'UTR|RPTOR_ENST00000544334.2_Missense_Mutation_p.R655I	NM_020761.2	NP_065812.1	Q8N122	RPTOR_HUMAN	regulatory associated protein of MTOR, complex 1	813					cell cycle arrest (GO:0007050)|cell growth (GO:0016049)|cellular response to amino acid stimulus (GO:0071230)|cellular response to nutrient levels (GO:0031669)|insulin receptor signaling pathway (GO:0008286)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase III promoter (GO:0045945)|regulation of cell size (GO:0008361)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|lysosomal membrane (GO:0005765)|lysosome (GO:0005764)|TORC1 complex (GO:0031931)	14-3-3 protein binding (GO:0071889)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|RNA polymerase III type 1 promoter DNA binding (GO:0001030)|RNA polymerase III type 2 promoter DNA binding (GO:0001031)|RNA polymerase III type 3 promoter DNA binding (GO:0001032)|TFIIIC-class transcription factor binding (GO:0001156)	p.R813K(1)		breast(1)|endometrium(4)|kidney(1)|large_intestine(12)|lung(17)|ovary(3)|prostate(1)|skin(1)|stomach(1)|urinary_tract(3)	44						CAGATTTGGAGAGTCCTGCTG	0.527																																																	1	Substitution - Missense(1)	urinary_tract(1)	17											177.0	186.0	183.0					17																	78882647		2203	4300	6503	76497242	SO:0001583	missense	57521				CCDS11773.1, CCDS54175.1	17q25.3	2013-01-10				ENSG00000141564		"""WD repeat domain containing"""	30287	protein-coding gene	gene with protein product	"""regulatory associated protein of mTOR"""	607130				10718198, 12150926	Standard	NM_001163034		Approved	KOG1, Mip1, KIAA1303, raptor	uc002jyt.1	Q8N122		ENST00000306801.3:c.2438G>T	17.37:g.78882647G>T	ENSP00000307272:p.Arg813Ile	Somatic		Capture	Illumina HiSeq	Phase_I	76497242	B2RN36|C6KEF2|F5H7J5|Q8N4V9|Q8TB32|Q9P2P3	Missense_Mutation	SNP	ENST00000306801.3	37	CCDS11773.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.474794	0.84640	.	.	ENSG00000141564	ENST00000306801;ENST00000544334	T;T	0.35236	1.32;1.32	4.77	4.77	0.60923	Armadillo-like helical (1);Armadillo-type fold (1);	0.117924	0.56097	D	0.000034	T	0.46658	0.1404	N	0.22421	0.69	0.80722	D	1	D;P	0.64830	0.994;0.704	D;B	0.74348	0.983;0.065	T	0.44329	-0.9335	10	0.40728	T	0.16	.	17.7606	0.88463	0.0:0.0:1.0:0.0	.	655;813	F5H7J5;Q8N122	.;RPTOR_HUMAN	I	813;655	ENSP00000307272:R813I;ENSP00000442479:R655I	ENSP00000307272:R813I	R	+	2	0	RPTOR	76497242	1.000000	0.71417	0.991000	0.47740	0.720000	0.41350	8.992000	0.93519	2.363000	0.80096	0.585000	0.79938	AGA		RPTOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438125.1	NM_020761	
C17orf70	80233	hgsc.bcm.edu	37	17	79514034	79514034	+	Nonsense_Mutation	SNP	C	C	A			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr17:79514034C>A	ENST00000327787.8	-	5	2120	c.2074G>T	c.(2074-2076)Gga>Tga	p.G692*	C17orf70_ENST00000425898.2_Nonsense_Mutation_p.G341*|C17orf70_ENST00000537152.1_Nonsense_Mutation_p.G541*			Q0VG06	FP100_HUMAN	chromosome 17 open reading frame 70	692					DNA repair (GO:0006281)	cytoplasm (GO:0005737)|Fanconi anaemia nuclear complex (GO:0043240)|intermediate filament cytoskeleton (GO:0045111)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)			breast(1)|central_nervous_system(1)|endometrium(1)|lung(11)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	19	all_neural(118;0.0878)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0282)|OV - Ovarian serous cystadenocarcinoma(97;0.0371)			GAGGCGGGTCCTGCTGGCTGG	0.687																																																	0			17											8.0	10.0	9.0					17																	79514034		2169	4255	6424	77124487	SO:0001587	stop_gained	80233			BC008883	CCDS32765.1, CCDS32765.2	17q25.3	2012-05-30			ENSG00000185504	ENSG00000185504			26171	protein-coding gene	gene with protein product	"""Fanconi anemia-associated protein, 100kDa"""	611301				17396147	Standard	NM_025161		Approved	FLJ22175, FAAP100	uc002kaq.3	Q0VG06	OTTHUMG00000167764	ENST00000327787.8:c.2074G>T	17.37:g.79514034C>A	ENSP00000333283:p.Gly692*	Somatic		Capture	Illumina HiSeq	Phase_I	77124487	A6NNM1|Q8N3F7|Q9BV13|Q9H6K7|Q9H7E8	Nonsense_Mutation	SNP	ENST00000327787.8	37	CCDS32765.2	.	.	.	.	.	.	.	.	.	.	C	40	8.116053	0.98662	.	.	ENSG00000185504	ENST00000327787;ENST00000425898;ENST00000361039;ENST00000537152	.	.	.	4.52	4.52	0.55395	.	0.361104	0.25695	N	0.028905	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	.	12.1177	0.53873	0.0:0.8264:0.1735:0.0	.	.	.	.	X	692;341;65;541	.	ENSP00000333283:G692X	G	-	1	0	C17orf70	77124487	0.002000	0.14202	0.010000	0.14722	0.002000	0.02628	1.203000	0.32284	2.343000	0.79666	0.655000	0.94253	GGA		C17orf70-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396170.1	NM_025161	
TMPRSS15	5651	hgsc.bcm.edu	37	21	19701534	19701534	+	Missense_Mutation	SNP	C	C	T			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr21:19701534C>T	ENST00000284885.3	-	15	1765	c.1732G>A	c.(1732-1734)Gat>Aat	p.D578N		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	578	CUB 2. {ECO:0000255|PROSITE- ProRule:PRU00059}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)	p.D578N(2)		NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						TCAACTACATCGTTAATATTT	0.308																																																	2	Substitution - Missense(2)	ovary(1)|large_intestine(1)	21											91.0	88.0	89.0					21																	19701534		2203	4298	6501	18623405	SO:0001583	missense	0				CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"""Serine peptidases / Transmembrane"""	9490	protein-coding gene	gene with protein product	"""proenterokinase"", ""enteropeptidase"""	606635	"""protease, serine, 7 (enterokinase)"""	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.1732G>A	21.37:g.19701534C>T	ENSP00000284885:p.Asp578Asn	Somatic		Capture	Illumina HiSeq	Phase_I	18623405	Q2NKL7	Missense_Mutation	SNP	ENST00000284885.3	37	CCDS13571.1	.	.	.	.	.	.	.	.	.	.	C	19.08	3.758031	0.69648	.	.	ENSG00000154646	ENST00000284885	T	0.33865	1.39	5.53	5.53	0.82687	CUB (5);	0.000000	0.85682	D	0.000000	T	0.71443	0.3340	H	0.94345	3.525	0.53005	D	0.999961	D	0.89917	1.0	D	0.97110	1.0	T	0.79598	-0.1737	9	.	.	.	.	17.3132	0.87215	0.0:1.0:0.0:0.0	.	578	P98073	ENTK_HUMAN	N	578	ENSP00000284885:D578N	.	D	-	1	0	TMPRSS15	18623405	1.000000	0.71417	0.983000	0.44433	0.332000	0.28634	5.609000	0.67661	2.758000	0.94735	0.655000	0.94253	GAT		TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772	
ERCC4	2072	hgsc.bcm.edu	37	16	14029410	14029410	+	Missense_Mutation	SNP	G	G	A			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr16:14029410G>A	ENST00000311895.7	+	8	1630	c.1621G>A	c.(1621-1623)Gat>Aat	p.D541N	CTD-2135D7.2_ENST00000575137.1_RNA|CTD-2135D7.2_ENST00000570663.1_RNA	NM_005236.2	NP_005227.1	Q92889	XPF_HUMAN	excision repair cross-complementation group 4	541					DNA catabolic process, endonucleolytic (GO:0000737)|DNA repair (GO:0006281)|double-strand break repair via homologous recombination (GO:0000724)|negative regulation of telomere maintenance (GO:0032205)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair involved in interstrand cross-link repair (GO:1901255)|nucleotide-excision repair, DNA damage removal (GO:0000718)|nucleotide-excision repair, DNA incision (GO:0033683)|nucleotide-excision repair, DNA incision, 3'-to lesion (GO:0006295)|nucleotide-excision repair, DNA incision, 5'-to lesion (GO:0006296)|resolution of meiotic recombination intermediates (GO:0000712)|response to UV (GO:0009411)|telomere maintenance (GO:0000723)|telomere maintenance via telomere shortening (GO:0010834)|transcription-coupled nucleotide-excision repair (GO:0006283)|UV protection (GO:0009650)	chromosome, telomeric region (GO:0000781)|nuclear chromosome, telomeric region (GO:0000784)|nucleoplasm (GO:0005654)|nucleotide-excision repair complex (GO:0000109)|nucleotide-excision repair factor 1 complex (GO:0000110)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	damaged DNA binding (GO:0003684)|endodeoxyribonuclease activity (GO:0004520)|protein C-terminus binding (GO:0008022)|protein N-terminus binding (GO:0047485)|single-stranded DNA binding (GO:0003697)|single-stranded DNA endodeoxyribonuclease activity (GO:0000014)			NS(1)|breast(1)|endometrium(7)|kidney(3)|large_intestine(5)|lung(12)|ovary(4)|pancreas(1)|prostate(1)|skin(3)	38						TTTGTCATCGGATGCTGCTTT	0.468			"""Mis, N, F"""			"""skin basal cell, skin squamous cell, melanoma"""		Nucleotide excision repair (NER)	Xeroderma Pigmentosum																														yes	Rec		Xeroderma pigmentosum (F)	16	16p13.3-p13.13	2072	"""excision repair cross-complementing rodent repair deficiency, complementation group 4"""		E	0			16											63.0	65.0	64.0					16																	14029410		2197	4300	6497	13936911	SO:0001583	missense	2072	Familial Cancer Database	incl. XPA, XPB, XPC, XPD, XPE, XPF, XPG, XP Variant, XPV	L76568	CCDS32390.1	16p13.3	2014-09-17	2014-03-07		ENSG00000175595	ENSG00000175595			3436	protein-coding gene	gene with protein product	"""xeroderma pigmentosum, complementation group F"""	133520	"""excision repair cross-complementing rodent repair deficiency, complementation group 4"""	XPF		9579555, 8887684	Standard	NM_005236		Approved	RAD1, FANCQ	uc002dce.2	Q92889	OTTHUMG00000048194	ENST00000311895.7:c.1621G>A	16.37:g.14029410G>A	ENSP00000310520:p.Asp541Asn	Somatic		Capture	Illumina HiSeq	Phase_I	13936911	A5PKV6|A8K111|O00140|Q8TD83	Missense_Mutation	SNP	ENST00000311895.7	37	CCDS32390.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.200575	0.79015	.	.	ENSG00000175595	ENST00000311895;ENST00000389138	T	0.61742	0.08	5.12	4.15	0.48705	.	0.000000	0.85682	D	0.000000	T	0.51346	0.1669	M	0.64997	1.995	0.80722	D	1	P	0.40660	0.726	B	0.36567	0.228	T	0.53788	-0.8389	10	0.33940	T	0.23	-36.7844	12.459	0.55721	0.0811:0.0:0.9189:0.0	.	541	Q92889	XPF_HUMAN	N	541;530	ENSP00000310520:D541N	ENSP00000310520:D541N	D	+	1	0	ERCC4	13936911	1.000000	0.71417	0.638000	0.29380	0.658000	0.38924	7.597000	0.82733	2.533000	0.85409	0.591000	0.81541	GAT		ERCC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109634.2	NM_005236	
DNAH3	55567	hgsc.bcm.edu	37	16	20976234	20976234	+	Missense_Mutation	SNP	C	C	T	rs368894340		TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr16:20976234C>T	ENST00000261383.3	-	53	8971	c.8972G>A	c.(8971-8973)cGc>cAc	p.R2991H	DNAH3_ENST00000415178.1_3'UTR	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	2991					cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		ATTAGTATAGCGGATCCCCAG	0.537													C|||	1	0.000199681	0.0	0.0	5008	,	,		19838	0.001		0.0	False		,,,				2504	0.0																0			16						C	HIS/ARG	0,4402		0,0,2201	104.0	104.0	104.0		8972	1.8	0.0	16		104	1,8599	1.2+/-3.3	0,1,4299	no	missense	DNAH3	NM_017539.1	29	0,1,6500	TT,TC,CC		0.0116,0.0,0.0077	benign	2991/4117	20976234	1,13001	2201	4300	6501	20883735	SO:0001583	missense	55567			U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.8972G>A	16.37:g.20976234C>T	ENSP00000261383:p.Arg2991His	Somatic		Capture	Illumina HiSeq	Phase_I	20883735	O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Missense_Mutation	SNP	ENST00000261383.3	37	CCDS10594.1	.	.	.	.	.	.	.	.	.	.	C	1.964	-0.438138	0.04636	0.0	1.16E-4	ENSG00000158486	ENST00000261383	T	0.74737	-0.87	6.17	1.82	0.25136	Dynein heavy chain, coiled coil stalk (1);	0.200037	0.41396	D	0.000897	T	0.67562	0.2906	M	0.75085	2.285	0.09310	N	0.999999	B	0.29270	0.24	B	0.22601	0.04	T	0.58629	-0.7603	10	0.46703	T	0.11	.	6.7691	0.23585	0.3303:0.504:0.1065:0.0591	.	2991	Q8TD57	DYH3_HUMAN	H	2991	ENSP00000261383:R2991H	ENSP00000261383:R2991H	R	-	2	0	DNAH3	20883735	0.997000	0.39634	0.000000	0.03702	0.002000	0.02628	2.564000	0.45931	0.116000	0.18110	-0.175000	0.13238	CGC		DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539	
PRKCB	5579	hgsc.bcm.edu	37	16	24135244	24135244	+	Missense_Mutation	SNP	G	G	A			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr16:24135244G>A	ENST00000321728.7	+	9	1182	c.1007G>A	c.(1006-1008)cGg>cAg	p.R336Q	PRKCB_ENST00000303531.7_Missense_Mutation_p.R336Q	NM_212535.2	NP_997700.1	P05771	KPCB_HUMAN	protein kinase C, beta	336					apoptotic process (GO:0006915)|B cell activation (GO:0042113)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|calcium ion transport (GO:0006816)|cellular calcium ion homeostasis (GO:0006874)|cellular response to carbohydrate stimulus (GO:0071322)|histone H3-T6 phosphorylation (GO:0035408)|intracellular signal transduction (GO:0035556)|lipoprotein transport (GO:0042953)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|platelet activation (GO:0030168)|positive regulation of angiogenesis (GO:0045766)|positive regulation of B cell receptor signaling pathway (GO:0050861)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein phosphorylation (GO:0006468)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|calcium channel regulator activity (GO:0005246)|chromatin binding (GO:0003682)|histone binding (GO:0042393)|histone kinase activity (H3-T6 specific) (GO:0035403)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			central_nervous_system(3)|large_intestine(1)|lung(2)|ovary(3)	9					Tamoxifen(DB00675)|Vitamin E(DB00163)	AACAGAGACCGGATGAAACTG	0.483																																																	0			16											188.0	178.0	182.0					16																	24135244		2197	4300	6497	24042745	SO:0001583	missense	5579			M13975	CCDS10618.1, CCDS10619.1	16p12	2009-07-10	2008-08-18	2008-08-18	ENSG00000166501	ENSG00000166501	2.7.11.1		9395	protein-coding gene	gene with protein product		176970	"""protein kinase C, beta 1"""	PRKCB2, PKCB, PRKCB1		3658678	Standard	NM_002738		Approved		uc002dme.3	P05771	OTTHUMG00000131615	ENST00000321728.7:c.1007G>A	16.37:g.24135244G>A	ENSP00000318315:p.Arg336Gln	Somatic		Capture	Illumina HiSeq	Phase_I	24042745	C5IFJ8|D3DWF5|O43744|P05127|Q15138|Q93060|Q9UE49|Q9UE50|Q9UEH8|Q9UJ30|Q9UJ33	Missense_Mutation	SNP	ENST00000321728.7	37	CCDS10618.1	.	.	.	.	.	.	.	.	.	.	G	19.61	3.858992	0.71834	.	.	ENSG00000166501	ENST00000321728;ENST00000303531	T;T	0.71341	-0.56;-0.56	4.92	4.92	0.64577	Protein kinase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.71702	0.3371	M	0.76328	2.33	0.80722	D	1	B;B	0.17268	0.021;0.012	B;B	0.06405	0.001;0.002	T	0.70506	-0.4853	10	0.51188	T	0.08	.	17.2875	0.87146	0.0:0.0:1.0:0.0	.	336;336	P05771-2;P05771	.;KPCB_HUMAN	Q	336	ENSP00000318315:R336Q;ENSP00000305355:R336Q	ENSP00000305355:R336Q	R	+	2	0	PRKCB	24042745	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.040000	0.93783	2.562000	0.86427	0.563000	0.77884	CGG		PRKCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254504.2	NM_212535	
HS3ST4	9951	hgsc.bcm.edu	37	16	25704190	25704190	+	Missense_Mutation	SNP	C	C	T			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr16:25704190C>T	ENST00000331351.5	+	1	844	c.452C>T	c.(451-453)aCg>aTg	p.T151M		NM_006040.2	NP_006031.2	Q9Y661	HS3S4_HUMAN	heparan sulfate (glucosamine) 3-O-sulfotransferase 4	151					heparan sulfate proteoglycan metabolic process (GO:0030201)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	[heparan sulfate]-glucosamine 3-sulfotransferase 1 activity (GO:0008467)			breast(2)|endometrium(3)|large_intestine(1)|lung(9)	15				GBM - Glioblastoma multiforme(48;0.0988)		GAGATGATCACGGCTCAGAGC	0.761																																																	0			16											4.0	7.0	6.0					16																	25704190		1875	3959	5834	25611691	SO:0001583	missense	9951			AF105378	CCDS53995.1	16p11.2	2008-03-12			ENSG00000182601	ENSG00000182601	2.8.2.23	"""Sulfotransferases, membrane-bound"""	5200	protein-coding gene	gene with protein product		604059				9988767	Standard	NM_006040		Approved	3OST4	uc002dof.3	Q9Y661	OTTHUMG00000059978	ENST00000331351.5:c.452C>T	16.37:g.25704190C>T	ENSP00000330606:p.Thr151Met	Somatic		Capture	Illumina HiSeq	Phase_I	25611691	Q5QI42|Q8NDC2	Missense_Mutation	SNP	ENST00000331351.5	37	CCDS53995.1	.	.	.	.	.	.	.	.	.	.	.	18.09	3.546342	0.65198	.	.	ENSG00000182601	ENST00000331351	T	0.47869	0.83	3.08	3.08	0.35506	.	1.392810	0.05603	U	0.576652	T	0.35740	0.0942	N	0.19112	0.55	0.25686	N	0.985743	D	0.61080	0.989	B	0.42087	0.375	T	0.30909	-0.9962	10	0.66056	D	0.02	.	8.5892	0.33677	0.2299:0.7701:0.0:0.0	.	151	Q9Y661	HS3S4_HUMAN	M	151	ENSP00000330606:T151M	ENSP00000330606:T151M	T	+	2	0	HS3ST4	25611691	1.000000	0.71417	0.900000	0.35374	0.972000	0.66771	6.476000	0.73587	1.533000	0.49186	0.514000	0.50259	ACG		HS3ST4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000133286.2	NM_006040	
C16orf92	146378	hgsc.bcm.edu	37	16	30035138	30035138	+	Nonsense_Mutation	SNP	C	C	G			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr16:30035138C>G	ENST00000300575.2	+	2	242	c.221C>G	c.(220-222)tCa>tGa	p.S74*	DOC2A_ENST00000567824.1_5'Flank	NM_001109659.1|NM_001109660.1	NP_001103129.1|NP_001103130.1	Q96LL3	CP092_HUMAN	chromosome 16 open reading frame 92	74						integral component of membrane (GO:0016021)				breast(3)|lung(3)	6						TATCCGGACTCAGACCAAGCC	0.567																																																	0			16											38.0	39.0	39.0					16																	30035138		1960	4130	6090	29942639	SO:0001587	stop_gained	146378			AK058133	CCDS42146.1	16p11.2	2012-05-30			ENSG00000167194	ENSG00000167194			26346	protein-coding gene	gene with protein product							Standard	NM_001109659		Approved	FLJ25404	uc002dvs.2	Q96LL3	OTTHUMG00000177107	ENST00000300575.2:c.221C>G	16.37:g.30035138C>G	ENSP00000300575:p.Ser74*	Somatic		Capture	Illumina HiSeq	Phase_I	29942639	Q494R8	Nonsense_Mutation	SNP	ENST00000300575.2	37	CCDS42146.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.037618	0.75617	.	.	ENSG00000167194	ENST00000300575	.	.	.	5.4	4.45	0.53987	.	0.200419	0.25164	N	0.032648	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	-5.3027	11.3838	0.49773	0.0:0.915:0.0:0.085	.	.	.	.	X	74	.	ENSP00000300575:S74X	S	+	2	0	C16orf92	29942639	0.309000	0.24518	0.977000	0.42913	0.894000	0.52154	1.052000	0.30429	1.285000	0.44548	0.655000	0.94253	TCA		C16orf92-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435351.1	NM_001109659	
CYLD	1540	hgsc.bcm.edu	37	16	50826539	50826539	+	Missense_Mutation	SNP	G	G	T			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr16:50826539G>T	ENST00000427738.3	+	15	2478	c.2273G>T	c.(2272-2274)cGa>cTa	p.R758L	CYLD_ENST00000540145.1_Missense_Mutation_p.R758L|CYLD_ENST00000568704.2_Missense_Mutation_p.R573L|CYLD_ENST00000566206.1_Missense_Mutation_p.R755L|CYLD_ENST00000569418.1_Missense_Mutation_p.R755L|CYLD_ENST00000398568.2_Missense_Mutation_p.R755L|RP11-327F22.4_ENST00000564510.1_RNA|CYLD_ENST00000311559.9_Missense_Mutation_p.R758L|CYLD_ENST00000564326.1_Missense_Mutation_p.R755L|RP11-327F22.4_ENST00000575917.1_RNA			Q9NQC7	CYLD_HUMAN	cylindromatosis (turban tumor syndrome)	758	USP.				cell cycle (GO:0007049)|innate immune response (GO:0045087)|necroptotic process (GO:0070266)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of extrinsic apoptotic signaling pathway (GO:2001238)|protein K63-linked deubiquitination (GO:0070536)|regulation of intrinsic apoptotic signaling pathway (GO:2001242)|regulation of microtubule cytoskeleton organization (GO:0070507)|regulation of mitotic cell cycle (GO:0007346)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)	centrosome (GO:0005813)|cytosol (GO:0005829)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|microtubule (GO:0005874)|nucleus (GO:0005634)	Lys63-specific deubiquitinase activity (GO:0061578)|proline-rich region binding (GO:0070064)|protein kinase binding (GO:0019901)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(4)|kidney(3)|large_intestine(9)|lung(17)|pancreas(1)|skin(22)|upper_aerodigestive_tract(1)	62		all_cancers(37;0.0156)				CAGATGCCTCGATTTGGAAAA	0.264			"""Mis, N, F, S"""		cylindroma	cylindroma			Multiple Trichoepithelioma, Familial;Familial Cylindromatosis																														yes	Rec	yes	Familial cylindromatosis	16	16q12-q13	1540	familial cylindromatosis gene		E	0			16											39.0	36.0	37.0					16																	50826539		1780	4049	5829	49384040	SO:0001583	missense	1540	Familial Cancer Database	;FADC, Turban Tumor syndrome, Epithelioma Adenoides Cysticum of Brooke, Hereditary Multiple Benign Cystic Epithelioma, Dermal Eccrine Cylindromatosis, Brooke-Spiegler s.	AB020656	CCDS42164.1, CCDS45482.1	16q12-q13	2014-09-17							2584	protein-coding gene	gene with protein product	"""ubiquitin specific peptidase like 2"""	605018		CYLD1		7493027	Standard	NM_015247		Approved	KIAA0849, USPL2	uc002egq.1	Q9NQC7		ENST00000427738.3:c.2273G>T	16.37:g.50826539G>T	ENSP00000392025:p.Arg758Leu	Somatic		Capture	Illumina HiSeq	Phase_I	49384040	O94934|Q7L3N6|Q96EH0|Q9NZX9	Missense_Mutation	SNP	ENST00000427738.3	37	CCDS45482.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.994567	0.74703	.	.	ENSG00000083799	ENST00000540145;ENST00000311559;ENST00000427738;ENST00000398568	D;D;D	0.91843	-2.92;-2.92;-2.92	5.69	5.69	0.88448	.	0.061256	0.64402	D	0.000002	D	0.92247	0.7541	M	0.72479	2.2	0.80722	D	1	B;B	0.24651	0.108;0.088	B;B	0.26310	0.068;0.04	D	0.89763	0.3948	10	0.87932	D	0	-8.1553	19.4071	0.94651	0.0:0.0:1.0:0.0	.	755;755	A8KAB0;Q9NQC7-2	.;.	L	758;758;755;755	ENSP00000445447:R758L;ENSP00000308928:R758L;ENSP00000381574:R755L	ENSP00000308928:R758L	R	+	2	0	CYLD	49384040	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.399000	0.97285	2.683000	0.91414	0.557000	0.71058	CGA		CYLD-010	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000422998.2		
HYDIN	54768	hgsc.bcm.edu	37	16	70862201	70862201	+	Silent	SNP	C	C	A			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr16:70862201C>A	ENST00000393567.2	-	82	14394	c.14244G>T	c.(14242-14244)ctG>ctT	p.L4748L		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4748					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				TGGTGATTGGCAGAAGCTCAG	0.567																																																	0			16											1.0	1.0	1.0					16																	70862201		31	62	93	69419702	SO:0001819	synonymous_variant	54768			AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.14244G>T	16.37:g.70862201C>A		Somatic		Capture	Illumina HiSeq	Phase_I	69419702	A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	ENST00000393567.2	37	CCDS59269.1																																																																																				HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3		
GLG1	2734	hgsc.bcm.edu	37	16	74499630	74499630	+	Missense_Mutation	SNP	T	T	C			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr16:74499630T>C	ENST00000422840.2	-	19	2610	c.2611A>G	c.(2611-2613)Atg>Gtg	p.M871V	Y_RNA_ENST00000384794.1_RNA|GLG1_ENST00000447066.2_Missense_Mutation_p.M860V|GLG1_ENST00000205061.5_Missense_Mutation_p.M871V	NM_001145667.1	NP_001139139.1	Q92896	GSLG1_HUMAN	golgi glycoprotein 1	871					blood coagulation (GO:0007596)|bone morphogenesis (GO:0060349)|leukocyte migration (GO:0050900)|negative regulation of protein processing (GO:0010955)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|regulation of chondrocyte differentiation (GO:0032330)	extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			breast(2)|cervix(2)|endometrium(6)|kidney(8)|large_intestine(6)|lung(28)|ovary(3)|prostate(1)|skin(1)	57						GGGTCCATCATCTCTGTCTCC	0.458																																																	0			16											212.0	201.0	205.0					16																	74499630		2198	4300	6498	73057131	SO:0001583	missense	2734				CCDS32485.1, CCDS45526.1, CCDS45527.1	16q22-q23	2010-02-12	2010-02-12			ENSG00000090863			4316	protein-coding gene	gene with protein product		600753	"""golgi apparatus protein 1"""			8530051, 7531823	Standard	NM_012201		Approved	MG-160, ESL-1, CFR-1	uc002fcx.3	Q92896		ENST00000422840.2:c.2611A>G	16.37:g.74499630T>C	ENSP00000405984:p.Met871Val	Somatic		Capture	Illumina HiSeq	Phase_I	73057131	B7Z8Y4|D3DUJ7|Q13221|Q6P9D1	Missense_Mutation	SNP	ENST00000422840.2	37	CCDS45527.1	.	.	.	.	.	.	.	.	.	.	T	14.80	2.644363	0.47258	.	.	ENSG00000090863	ENST00000205061;ENST00000447066;ENST00000422840	.	.	.	5.95	5.95	0.96441	.	0.000000	0.85682	D	0.000000	T	0.59514	0.2199	L	0.48362	1.52	0.80722	D	1	P;B;B;B	0.38677	0.642;0.078;0.335;0.387	P;B;B;B	0.46144	0.505;0.055;0.208;0.219	T	0.53697	-0.8402	9	0.19147	T	0.46	-16.7589	16.4101	0.83708	0.0:0.0:0.0:1.0	.	1;871;871;860	Q6ZMF1;Q92896;Q92896-2;B7Z8Y4	.;GSLG1_HUMAN;.;.	V	871;860;871	.	ENSP00000205061:M871V	M	-	1	0	GLG1	73057131	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	7.747000	0.85070	2.280000	0.76307	0.460000	0.39030	ATG		GLG1-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000435750.1	NM_012201	
PKD1L2	114780	hgsc.bcm.edu	37	16	81145838	81145838	+	RNA	SNP	C	C	T			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr16:81145838C>T	ENST00000534142.1	-	0	1301				PKD1L2_ENST00000525539.1_RNA|PKD1L2_ENST00000533478.1_RNA			Q7Z442	PK1L2_HUMAN	polycystic kidney disease 1-like 2						ion transport (GO:0006811)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|carbohydrate binding (GO:0030246)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	44						CCAGGCACGGCGTAGGGCTGC	0.512																																																	0			16											164.0	154.0	157.0					16																	81145838		2007	4183	6190	79703339			114780			AY164483	CCDS61998.1, CCDS61999.1	16q23.2	2014-09-11			ENSG00000166473	ENSG00000166473			21715	protein-coding gene	gene with protein product		607894				12782129	Standard	NM_052892		Approved	KIAA1879	uc002fgf.1	Q7Z442	OTTHUMG00000166126		16.37:g.81145838C>T		Somatic		Capture	Illumina HiSeq	Phase_I	79703339	Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Missense_Mutation	SNP	ENST00000534142.1	37																																																																																					PKD1L2-009	PUTATIVE	basic|exp_conf	processed_transcript	polymorphic_pseudogene	OTTHUMT00000387969.1		
YES1	7525	hgsc.bcm.edu	37	18	746048	746048	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr18:746048C>T	ENST00000584307.1	-	5	644	c.474G>A	c.(472-474)tgG>tgA	p.W158*	YES1_ENST00000577961.1_Nonsense_Mutation_p.W163*|YES1_ENST00000314574.4_Nonsense_Mutation_p.W158*			P07947	YES_HUMAN	YES proto-oncogene 1, Src family tyrosine kinase	158	SH2. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood coagulation (GO:0007596)|cellular protein modification process (GO:0006464)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|glucose transport (GO:0015758)|innate immune response (GO:0045087)|leukocyte migration (GO:0050900)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein autophosphorylation (GO:0046777)|regulation of vascular permeability (GO:0043114)|T cell costimulation (GO:0031295)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|enzyme binding (GO:0019899)|ion channel binding (GO:0044325)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein tyrosine kinase activity (GO:0004713)			endometrium(3)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(1)	17					Dasatinib(DB01254)	TGCCAAAATACCATCTGGAAA	0.343																																																	0			18											39.0	40.0	40.0					18																	746048		2191	4287	6478	736048	SO:0001587	stop_gained	7525			M15990	CCDS11824.1	18p11.31-p11.21	2014-06-26	2014-06-26		ENSG00000176105	ENSG00000176105		"""SH2 domain containing"""	12841	protein-coding gene	gene with protein product		164880	"""v-yes-1 Yamaguchi sarcoma viral oncogene homolog 1"""			2983418	Standard	NM_005433		Approved	Yes, c-yes, HsT441	uc002kky.3	P07947	OTTHUMG00000131472	ENST00000584307.1:c.474G>A	18.37:g.746048C>T	ENSP00000462468:p.Trp158*	Somatic		Capture	Illumina HiSeq	Phase_I	736048	A6NLB3|D3DUH1	Nonsense_Mutation	SNP	ENST00000584307.1	37	CCDS11824.1	.	.	.	.	.	.	.	.	.	.	C	37	6.492415	0.97612	.	.	ENSG00000176105	ENST00000359834;ENST00000314574	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	19.8338	0.96646	0.0:1.0:0.0:0.0	.	.	.	.	X	158	.	ENSP00000324740:W158X	W	-	3	0	YES1	736048	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.717000	0.84732	2.692000	0.91855	0.591000	0.81541	TGG		YES1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440827.2	NM_005433	
CTNNB1	1499	hgsc.bcm.edu	37	3	41266104	41266104	+	Missense_Mutation	SNP	G	G	T	rs28931589|rs121913416		TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr3:41266104G>T	ENST00000349496.5	+	3	381	c.101G>T	c.(100-102)gGa>gTa	p.G34V	CTNNB1_ENST00000396185.3_Missense_Mutation_p.G34V|CTNNB1_ENST00000453024.1_Missense_Mutation_p.G27V|CTNNB1_ENST00000396183.3_Missense_Mutation_p.G34V|CTNNB1_ENST00000405570.1_Missense_Mutation_p.G34V	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	34			G -> E (in PTR). {ECO:0000269|PubMed:10192393}.|G -> R (in hepatocellular carcinoma). {ECO:0000269|PubMed:10435629}.|G -> V (in hepatoblastoma; dbSNP:rs28931589). {ECO:0000269|PubMed:9927029}.		adherens junction assembly (GO:0034333)|androgen receptor signaling pathway (GO:0030521)|anterior/posterior axis specification (GO:0009948)|apoptotic process (GO:0006915)|bone resorption (GO:0045453)|branching involved in ureteric bud morphogenesis (GO:0001658)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in positive regulation of epithelial to mesenchymal transition (GO:0044334)|cell adhesion (GO:0007155)|cell fate specification (GO:0001708)|cell maturation (GO:0048469)|cell-matrix adhesion (GO:0007160)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to growth factor stimulus (GO:0071363)|cellular response to indole-3-methanol (GO:0071681)|cellular response to mechanical stimulus (GO:0071260)|central nervous system vasculogenesis (GO:0022009)|cytoskeletal anchoring at plasma membrane (GO:0007016)|determination of dorsal/ventral asymmetry (GO:0048262)|dorsal/ventral axis specification (GO:0009950)|ectoderm development (GO:0007398)|embryonic axis specification (GO:0000578)|embryonic digit morphogenesis (GO:0042733)|embryonic foregut morphogenesis (GO:0048617)|embryonic forelimb morphogenesis (GO:0035115)|embryonic heart tube development (GO:0035050)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal limb joint morphogenesis (GO:0036023)|endodermal cell fate commitment (GO:0001711)|endothelial tube morphogenesis (GO:0061154)|epithelial cell differentiation involved in prostate gland development (GO:0060742)|epithelial to mesenchymal transition (GO:0001837)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|fungiform papilla formation (GO:0061198)|gastrulation with mouth forming second (GO:0001702)|genitalia morphogenesis (GO:0035112)|glial cell fate determination (GO:0007403)|hair cell differentiation (GO:0035315)|hair follicle morphogenesis (GO:0031069)|hair follicle placode formation (GO:0060789)|hindbrain development (GO:0030902)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|layer formation in cerebral cortex (GO:0021819)|lens morphogenesis in camera-type eye (GO:0002089)|liver development (GO:0001889)|lung cell differentiation (GO:0060479)|lung induction (GO:0060492)|lung-associated mesenchyme development (GO:0060484)|male genitalia development (GO:0030539)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesenchymal to epithelial transition involved in metanephros morphogenesis (GO:0003337)|midgut development (GO:0007494)|muscle cell differentiation (GO:0042692)|myoblast differentiation (GO:0045445)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of heart induction by canonical Wnt signaling pathway (GO:0003136)|negative regulation of neuron death (GO:1901215)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein sumoylation (GO:0033234)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nephron tubule formation (GO:0072079)|neural plate development (GO:0001840)|neuron migration (GO:0001764)|odontogenesis of dentin-containing tooth (GO:0042475)|oocyte development (GO:0048599)|osteoclast differentiation (GO:0030316)|oviduct development (GO:0060066)|pancreas development (GO:0031016)|patterning of blood vessels (GO:0001569)|positive regulation of apoptotic process (GO:0043065)|positive regulation of branching involved in lung morphogenesis (GO:0061047)|positive regulation of determination of dorsal identity (GO:2000017)|positive regulation of endothelial cell differentiation (GO:0045603)|positive regulation of epithelial cell proliferation involved in prostate gland development (GO:0060769)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of fibroblast growth factor receptor signaling pathway (GO:0045743)|positive regulation of heparan sulfate proteoglycan biosynthetic process (GO:0010909)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of type I interferon production (GO:0032481)|protein heterooligomerization (GO:0051291)|protein localization to cell surface (GO:0034394)|proximal/distal pattern formation (GO:0009954)|regulation of angiogenesis (GO:0045765)|regulation of calcium ion import (GO:0090279)|regulation of centriole-centriole cohesion (GO:0030997)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of fibroblast proliferation (GO:0048145)|regulation of myelination (GO:0031641)|regulation of nephron tubule epithelial cell differentiation (GO:0072182)|regulation of protein localization to cell surface (GO:2000008)|regulation of secondary heart field cardioblast proliferation (GO:0003266)|regulation of smooth muscle cell proliferation (GO:0048660)|regulation of T cell proliferation (GO:0042129)|renal inner medulla development (GO:0072053)|renal outer medulla development (GO:0072054)|renal vesicle formation (GO:0072033)|response to cadmium ion (GO:0046686)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|Schwann cell proliferation (GO:0014010)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|synapse organization (GO:0050808)|synaptic vesicle transport (GO:0048489)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tongue morphogenesis (GO:0043587)|trachea formation (GO:0060440)|transcription, DNA-templated (GO:0006351)|Wnt signaling pathway (GO:0016055)	adherens junction (GO:0005912)|apical part of cell (GO:0045177)|basolateral plasma membrane (GO:0016323)|beta-catenin destruction complex (GO:0030877)|beta-catenin-TCF7L2 complex (GO:0070369)|catenin complex (GO:0016342)|cell cortex (GO:0005938)|cell junction (GO:0030054)|cell periphery (GO:0071944)|cell-cell adherens junction (GO:0005913)|cell-cell junction (GO:0005911)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic shaft (GO:0043198)|desmosome (GO:0030057)|extracellular vesicular exosome (GO:0070062)|fascia adherens (GO:0005916)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|membrane (GO:0016020)|microvillus membrane (GO:0031528)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|protein-DNA complex (GO:0032993)|Scrib-APC-beta-catenin complex (GO:0034750)|synapse (GO:0045202)|tight junction (GO:0005923)|transcription factor complex (GO:0005667)|Z disc (GO:0030018)|zonula adherens (GO:0005915)	alpha-catenin binding (GO:0045294)|androgen receptor binding (GO:0050681)|cadherin binding (GO:0045296)|chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|estrogen receptor binding (GO:0030331)|I-SMAD binding (GO:0070411)|ion channel binding (GO:0044325)|kinase binding (GO:0019900)|nuclear hormone receptor binding (GO:0035257)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)|protein phosphatase binding (GO:0019903)|R-SMAD binding (GO:0070412)|RNA polymerase II activating transcription factor binding (GO:0001102)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)|SMAD binding (GO:0046332)|structural molecule activity (GO:0005198)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)	p.G34E(73)|p.G34V(72)|p.A5_A80del(53)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.?(4)|p.V22_G38del(3)|p.W25_I140del(3)|p.T3_A126del(2)|p.A5fs*7(2)|p.D32_S47del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.A13_R151del(1)|p.D32_H36>D(1)|p.M14_S45del(1)|p.A20_N141del(1)|p.M1_A87del(1)|p.D11_Y142>H(1)|p.H24_G38del(1)|p.S23_I35del(1)|p.Y30_A97del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.Q28_A43del(1)|p.A5_T59del(1)|p.A20_I35del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.S23_A39del(1)|p.H24_M131del(1)|p.A21_A80del(1)|p.D32fs*9(1)|p.A5_T40del(1)|p.S29_H36del(1)|p.A5_E54del(1)|p.W25_I35del(1)|p.S33_S37del(1)|p.M8_A80del(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.Q28_Q61del(1)|p.A20_S111del(1)|p.Y30_T40del(1)|p.GIHS34?(1)|p.A5_I35del(1)|p.D32_H36del(1)|p.Y30_A80del(1)	CTNNB1/PLAG1(60)	NS(4)|adrenal_gland(103)|biliary_tract(43)|bone(21)|breast(7)|central_nervous_system(260)|cervix(9)|endometrium(293)|eye(1)|haematopoietic_and_lymphoid_tissue(60)|kidney(202)|large_intestine(269)|liver(1010)|lung(63)|oesophagus(6)|ovary(106)|pancreas(126)|parathyroid(11)|pituitary(111)|pleura(2)|prostate(31)|salivary_gland(13)|skin(103)|small_intestine(17)|soft_tissue(792)|stomach(165)|thyroid(55)|upper_aerodigestive_tract(2)|urinary_tract(8)	3893				KIRC - Kidney renal clear cell carcinoma(284;0.0028)|Kidney(284;0.00294)		CTGGACTCTGGAATCCATTCT	0.488	G34E(AGS_STOMACH)	15	"""H, Mis, T"""	PLAG1	"""colorectal, cvarian,  hepatoblastoma, others, pleomorphic salivary adenoma"""				Pilomatrixoma, Familial Clustering of																												Colon(6;3 56 14213 18255)			Dom	yes		3	3p22-p21.3	1499	"""catenin (cadherin-associated protein), beta 1"""		"""E, M, O"""	276	Substitution - Missense(145)|Deletion - In frame(105)|Complex - deletion inframe(16)|Unknown(7)|Deletion - Frameshift(3)	liver(146)|endometrium(30)|large_intestine(27)|stomach(21)|central_nervous_system(20)|skin(8)|pancreas(8)|ovary(6)|small_intestine(2)|lung(2)|adrenal_gland(1)|haematopoietic_and_lymphoid_tissue(1)|biliary_tract(1)|pituitary(1)|prostate(1)|bone(1)	3											93.0	78.0	83.0					3																	41266104		2203	4300	6503	41241108	SO:0001583	missense	1499	Familial Cancer Database	Pilomatricoma, Familial Clustering of, Epithelioma Calcificans of Malherbe	X87838	CCDS2694.1	3p21	2013-02-15	2002-08-29		ENSG00000168036	ENSG00000168036		"""Armadillo repeat containing"""	2514	protein-coding gene	gene with protein product		116806	"""catenin (cadherin-associated protein), beta 1 (88kD)"""	CTNNB		7829088	Standard	NM_001098210		Approved	beta-catenin, armadillo	uc003ckr.2	P35222	OTTHUMG00000131393	ENST00000349496.5:c.101G>T	3.37:g.41266104G>T	ENSP00000344456:p.Gly34Val	Somatic		Capture	Illumina HiSeq	Phase_I	41241108	A8K1L7|Q8NEW9|Q8NI94|Q9H391	Missense_Mutation	SNP	ENST00000349496.5	37	CCDS2694.1	.	.	.	.	.	.	.	.	.	.	G	23.7	4.450603	0.84101	.	.	ENSG00000168036	ENST00000426215;ENST00000405570;ENST00000431914;ENST00000396183;ENST00000349496;ENST00000453024;ENST00000396185;ENST00000450969;ENST00000441708	T;T;T;T;T;T;T;T;T	0.53206	0.63;0.63;0.63;0.63;0.63;0.63;0.63;0.63;0.63	5.76	5.76	0.90799	.	0.000000	0.85682	D	0.000000	T	0.72053	0.3413	M	0.79258	2.445	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.74188	-0.3746	10	0.87932	D	0	-31.2232	19.9596	0.97236	0.0:0.0:1.0:0.0	rs28931589	34	P35222	CTNB1_HUMAN	V	27;34;34;34;34;27;34;34;34	ENSP00000400508:G27V;ENSP00000385604:G34V;ENSP00000412219:G34V;ENSP00000379486:G34V;ENSP00000344456:G34V;ENSP00000411226:G27V;ENSP00000379488:G34V;ENSP00000409302:G34V;ENSP00000401599:G34V	ENSP00000344456:G34V	G	+	2	0	CTNNB1	41241108	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.869000	0.99810	2.726000	0.93360	0.655000	0.94253	GGA		CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210	
BSN	8927	hgsc.bcm.edu	37	3	49690386	49690386	+	Missense_Mutation	SNP	G	G	A			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr3:49690386G>A	ENST00000296452.4	+	5	3511	c.3397G>A	c.(3397-3399)Gac>Aac	p.D1133N		NM_003458.3	NP_003449.2	Q9UPA5	BSN_HUMAN	bassoon presynaptic cytomatrix protein	1133					synaptic transmission (GO:0007268)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|neuron projection terminus (GO:0044306)|nucleus (GO:0005634)|presynaptic cytoskeletal matrix assembled at active zones (GO:0048788)	metal ion binding (GO:0046872)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(16)|kidney(3)|large_intestine(17)|lung(37)|ovary(7)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	106				BRCA - Breast invasive adenocarcinoma(193;6.66e-05)|KIRC - Kidney renal clear cell carcinoma(197;0.0032)|Kidney(197;0.00336)		ACCCTCCCTTGACTCTGAGGC	0.612																																																	0			3											57.0	57.0	57.0					3																	49690386		2203	4300	6503	49665390	SO:0001583	missense	8927			AF052224	CCDS2800.1	3p21	2013-01-07	2013-01-07		ENSG00000164061	ENSG00000164061			1117	protein-coding gene	gene with protein product	"""zinc finger protein 231"", ""neuronal double zinc finger protein"""	604020	"""bassoon (presynaptic cytomatrix protein)"""	ZNF231		9806829, 10329005	Standard	NM_003458		Approved		uc003cxe.4	Q9UPA5	OTTHUMG00000133750	ENST00000296452.4:c.3397G>A	3.37:g.49690386G>A	ENSP00000296452:p.Asp1133Asn	Somatic		Capture	Illumina HiSeq	Phase_I	49665390	O43161|Q7LGH3	Missense_Mutation	SNP	ENST00000296452.4	37	CCDS2800.1	.	.	.	.	.	.	.	.	.	.	G	17.27	3.347889	0.61183	.	.	ENSG00000164061	ENST00000296452	T	0.22945	1.93	5.09	5.09	0.68999	.	0.000000	0.85682	D	0.000000	T	0.52058	0.1711	M	0.72894	2.215	0.58432	D	0.999998	D	0.89917	1.0	D	0.74674	0.984	T	0.55915	-0.8065	10	0.72032	D	0.01	.	18.4911	0.90848	0.0:0.0:1.0:0.0	.	1133	Q9UPA5	BSN_HUMAN	N	1133	ENSP00000296452:D1133N	ENSP00000296452:D1133N	D	+	1	0	BSN	49665390	1.000000	0.71417	0.884000	0.34674	0.938000	0.57974	9.835000	0.99442	2.390000	0.81377	0.561000	0.74099	GAC		BSN-001	KNOWN	NMD_exception|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000258164.1	NM_003458	
OR5H15	403274	hgsc.bcm.edu	37	3	97888307	97888307	+	Missense_Mutation	SNP	T	T	C			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr3:97888307T>C	ENST00000356526.2	+	1	764	c.764T>C	c.(763-765)cTt>cCt	p.L255P		NM_001005515.1	NP_001005515.1	A6NDH6	O5H15_HUMAN	olfactory receptor, family 5, subfamily H, member 15	255						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(20)|ovary(1)|prostate(1)|skin(2)|stomach(1)	35						TATGGCCCCCTTCTCTTAATG	0.438																																																	0			3											94.0	97.0	96.0					3																	97888307		2203	4300	6503	99370997	SO:0001583	missense	403274				CCDS33799.1	3q11.2	2013-09-23			ENSG00000233412	ENSG00000233412		"""GPCR / Class A : Olfactory receptors"""	31287	protein-coding gene	gene with protein product							Standard	NM_001005515		Approved		uc011bgu.2	A6NDH6	OTTHUMG00000160076	ENST00000356526.2:c.764T>C	3.37:g.97888307T>C	ENSP00000373195:p.Leu255Pro	Somatic		Capture	Illumina HiSeq	Phase_I	99370997		Missense_Mutation	SNP	ENST00000356526.2	37	CCDS33799.1	.	.	.	.	.	.	.	.	.	.	-	11.36	1.616582	0.28801	.	.	ENSG00000233412	ENST00000356526;ENST00000454529	T	0.00183	8.6	2.48	2.48	0.30137	GPCR, rhodopsin-like superfamily (1);	0.000000	0.42548	D	0.000696	T	0.00552	0.0018	M	0.86343	2.81	0.09310	N	0.999999	D	0.89917	1.0	D	0.97110	1.0	T	0.29971	-0.9994	10	0.72032	D	0.01	.	8.4982	0.33141	0.0:0.0:0.0:1.0	.	255	A6NDH6	O5H15_HUMAN	P	255	ENSP00000373195:L255P	ENSP00000373195:L255P	L	+	2	0	OR5H15	99370997	0.000000	0.05858	0.005000	0.12908	0.008000	0.06430	-0.140000	0.10342	1.138000	0.42230	0.155000	0.16302	CTT		OR5H15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359109.1		
TF	7018	hgsc.bcm.edu	37	3	133473445	133473445	+	Silent	SNP	C	C	T	rs41298987	byFrequency	TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr3:133473445C>T	ENST00000402696.3	+	4	917	c.432C>T	c.(430-432)tcC>tcT	p.S144S	TF_ENST00000264998.3_Silent_p.S17S|TFP1_ENST00000460564.1_RNA|TF_ENST00000475382.1_3'UTR	NM_001063.3	NP_001054	P02787	TRFE_HUMAN	transferrin	144	Transferrin-like 1. {ECO:0000255|PROSITE- ProRule:PRU00741}.				blood coagulation (GO:0007596)|cellular iron ion homeostasis (GO:0006879)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|retina homeostasis (GO:0001895)|transferrin transport (GO:0033572)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|basal part of cell (GO:0045178)|basal plasma membrane (GO:0009925)|blood microparticle (GO:0072562)|cell surface (GO:0009986)|coated pit (GO:0005905)|cytoplasmic membrane-bounded vesicle (GO:0016023)|early endosome (GO:0005769)|endocytic vesicle (GO:0030139)|endosome membrane (GO:0010008)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|late endosome (GO:0005770)|perinuclear region of cytoplasm (GO:0048471)|recycling endosome (GO:0055037)|secretory granule lumen (GO:0034774)|vesicle (GO:0031982)	ferric iron binding (GO:0008199)			NS(1)|autonomic_ganglia(1)|breast(3)|endometrium(7)|large_intestine(13)|liver(2)|lung(16)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	49					Aluminium(DB01370)|Bismuth Subsalicylate(DB01294)|Gallium nitrate(DB05260)|Iron Dextran(DB00893)	TAGGCAGGTCCGCTGGGTGGA	0.522													C|||	64	0.0127796	0.0446	0.0043	5008	,	,		20464	0.002		0.0	False		,,,				2504	0.0																0			3						C		151,4255	103.8+/-142.4	1,149,2053	182.0	178.0	179.0		432	-10.5	0.1	3	dbSNP_127	179	0,8600		0,0,4300	no	coding-synonymous	TF	NM_001063.3		1,149,6353	TT,TC,CC		0.0,3.4271,1.161		144/699	133473445	151,12855	2203	4300	6503	134956135	SO:0001819	synonymous_variant	7018				CCDS3080.1	3q21	2012-10-02			ENSG00000091513	ENSG00000091513			11740	protein-coding gene	gene with protein product		190000				6585826	Standard	NM_001063		Approved	PRO1557, PRO2086	uc003epv.2	P02787	OTTHUMG00000150356	ENST00000402696.3:c.432C>T	3.37:g.133473445C>T		Somatic		Capture	Illumina HiSeq	Phase_I	134956135	O43890|Q1HBA5|Q9NQB8|Q9UHV0	Silent	SNP	ENST00000402696.3	37	CCDS3080.1																																																																																				TF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317775.1	NM_001063	
PIK3CA	5290	hgsc.bcm.edu	37	3	178952001	178952001	+	Missense_Mutation	SNP	T	T	C			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr3:178952001T>C	ENST00000263967.3	+	21	3213	c.3056T>C	c.(3055-3057)aTt>aCt	p.I1019T	RP11-245C23.3_ENST00000609807.1_RNA	NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	1019	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|glucose metabolic process (GO:0006006)|hypomethylation of CpG island (GO:0044029)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|insulin receptor signaling pathway via phosphatidylinositol 3-kinase (GO:0038028)|leukocyte migration (GO:0050900)|negative regulation of anoikis (GO:2000811)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet activation (GO:0030168)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|protein kinase B signaling (GO:0043491)|regulation of genetic imprinting (GO:2000653)|regulation of multicellular organism growth (GO:0040014)|small molecule metabolic process (GO:0044281)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|vasculature development (GO:0001944)	1-phosphatidylinositol-4-phosphate 3-kinase, class IA complex (GO:0005943)|cytosol (GO:0005829)|lamellipodium (GO:0030027)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|kinase activity (GO:0016301)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)|protein kinase activator activity (GO:0030295)|protein serine/threonine kinase activity (GO:0004674)			NS(16)|autonomic_ganglia(4)|biliary_tract(22)|bone(1)|breast(2150)|central_nervous_system(110)|cervix(33)|endometrium(473)|eye(1)|haematopoietic_and_lymphoid_tissue(35)|kidney(14)|large_intestine(1202)|liver(42)|lung(202)|meninges(1)|oesophagus(28)|ovary(235)|pancreas(17)|penis(8)|pituitary(12)|prostate(10)|skin(155)|small_intestine(1)|soft_tissue(18)|stomach(121)|thyroid(80)|upper_aerodigestive_tract(70)|urinary_tract(208)	5269	all_cancers(143;1.19e-17)|Ovarian(172;0.00769)|Breast(254;0.155)		OV - Ovarian serous cystadenocarcinoma(80;9.59e-28)|GBM - Glioblastoma multiforme(14;0.003)|BRCA - Breast invasive adenocarcinoma(182;0.0282)		Caffeine(DB00201)	TTTGATGACATTGCATACATT	0.398		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)																											Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	0			3											108.0	95.0	99.0					3																	178952001		1881	4115	5996	180434695	SO:0001583	missense	5290				CCDS43171.1	3q26.3	2014-09-17	2012-07-13		ENSG00000121879	ENSG00000121879	2.7.1.153		8975	protein-coding gene	gene with protein product		171834	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""			1322797	Standard	NM_006218		Approved	PI3K	uc003fjk.3	P42336	OTTHUMG00000157311	ENST00000263967.3:c.3056T>C	3.37:g.178952001T>C	ENSP00000263967:p.Ile1019Thr	Somatic		Capture	Illumina HiSeq	Phase_I	180434695	Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	CCDS43171.1	.	.	.	.	.	.	.	.	.	.	T	14.39	2.521955	0.44866	.	.	ENSG00000121879	ENST00000263967	D	0.82526	-1.62	5.81	5.81	0.92471	Protein kinase-like domain (1);Phosphatidylinositol 3-/4-kinase, catalytic (3);	0.110998	0.64402	D	0.000010	D	0.83732	0.5318	M	0.73753	2.245	0.80722	D	1	P	0.37688	0.605	B	0.37091	0.241	D	0.85646	0.1279	10	0.87932	D	0	-18.4609	16.1773	0.81862	0.0:0.0:0.0:1.0	.	1019	P42336	PK3CA_HUMAN	T	1019	ENSP00000263967:I1019T	ENSP00000263967:I1019T	I	+	2	0	PIK3CA	180434695	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.560000	0.82277	2.217000	0.71921	0.482000	0.46254	ATT		PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		
LRCH3	84859	hgsc.bcm.edu	37	3	197559134	197559134	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr3:197559134A>G	ENST00000425562.2	+	8	1048	c.1048A>G	c.(1048-1050)Aga>Gga	p.R350G	AC055764.1_ENST00000454526.1_RNA|LRCH3_ENST00000441090.2_Missense_Mutation_p.R224G|LRCH3_ENST00000438796.2_Missense_Mutation_p.R350G|LRCH3_ENST00000536618.1_5'UTR|LRCH3_ENST00000334859.4_Missense_Mutation_p.R350G|LRCH3_ENST00000414675.2_Missense_Mutation_p.R350G			Q96II8	LRCH3_HUMAN	leucine-rich repeats and calponin homology (CH) domain containing 3	350						cytoplasm (GO:0005737)|extracellular region (GO:0005576)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(13)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29	all_cancers(143;1.15e-09)|Ovarian(172;0.0418)|Breast(254;0.0976)		Epithelial(36;4.82e-24)|all cancers(36;3.61e-22)|OV - Ovarian serous cystadenocarcinoma(49;7.08e-19)|LUSC - Lung squamous cell carcinoma(58;6.94e-07)|Lung(62;9.92e-07)	GBM - Glioblastoma multiforme(93;0.119)		AAGACTACGAAGAGAAAGCCA	0.398																																																	0			3											85.0	80.0	82.0					3																	197559134		2203	4300	6503	199043531	SO:0001583	missense	84859			AL137527	CCDS3330.1	3q29	2006-04-12			ENSG00000186001	ENSG00000186001			28637	protein-coding gene	gene with protein product						12477932	Standard	NM_032773		Approved	MGC4126	uc003fyj.1	Q96II8	OTTHUMG00000155378	ENST00000425562.2:c.1048A>G	3.37:g.197559134A>G	ENSP00000393579:p.Arg350Gly	Somatic		Capture	Illumina HiSeq	Phase_I	199043531	B4E0T7|Q96FP9|Q9NT52	Missense_Mutation	SNP	ENST00000425562.2	37		.	.	.	.	.	.	.	.	.	.	A	15.34	2.804548	0.50315	.	.	ENSG00000186001	ENST00000438796;ENST00000441090;ENST00000414675;ENST00000334859;ENST00000425562	T;T;T;T;T	0.33438	2.01;1.41;2.03;2.25;2.03	5.51	5.51	0.81932	.	0.051413	0.85682	D	0.000000	T	0.45013	0.1321	L	0.34521	1.04	0.80722	D	1	B;D;B;P	0.69078	0.131;0.997;0.037;0.841	B;D;B;P	0.77004	0.07;0.989;0.029;0.693	T	0.33979	-0.9847	10	0.45353	T	0.12	-14.7564	15.6494	0.77078	1.0:0.0:0.0:0.0	.	224;350;350;350	E9PD99;B4E0T7;Q96II8-2;Q96II8-3	.;.;.;.	G	350;224;350;350;350	ENSP00000399751:R350G;ENSP00000394609:R224G;ENSP00000394965:R350G;ENSP00000334375:R350G;ENSP00000393579:R350G	ENSP00000334375:R350G	R	+	1	2	LRCH3	199043531	1.000000	0.71417	0.978000	0.43139	0.972000	0.66771	3.838000	0.55828	2.101000	0.63845	0.477000	0.44152	AGA		LRCH3-006	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000339965.1	NM_032773	
SLC2A14	144195	hgsc.bcm.edu	37	12	7970607	7970607	+	Silent	SNP	A	A	G			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr12:7970607A>G	ENST00000543909.1	-	15	1923	c.1164T>C	c.(1162-1164)ttT>ttC	p.F388F	SLC2A14_ENST00000396589.2_Silent_p.F388F|SLC2A14_ENST00000535295.1_Silent_p.F279F|SLC2A14_ENST00000431042.2_Silent_p.F365F|SLC2A14_ENST00000542505.1_Silent_p.F29F|SLC2A14_ENST00000542546.1_Silent_p.F279F|SLC2A14_ENST00000539924.1_Silent_p.F403F|SLC2A14_ENST00000340749.5_Silent_p.F365F			Q8TDB8	GTR14_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 14	388					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	glucose transmembrane transporter activity (GO:0005355)			central_nervous_system(1)|endometrium(5)|kidney(3)|large_intestine(9)|lung(12)|ovary(2)|prostate(1)|skin(1)|stomach(3)|upper_aerodigestive_tract(1)	38				Kidney(36;0.0883)		CAATACAGACAAAGCTCATCC	0.463																																																	0			12											40.0	41.0	41.0					12																	7970607		2203	4300	6503	7861874	SO:0001819	synonymous_variant	144195			AF481878	CCDS8585.1, CCDS66300.1, CCDS66301.1, CCDS66302.1	12p13.31	2013-07-15			ENSG00000173262	ENSG00000173262		"""Solute carriers"""	18301	protein-coding gene	gene with protein product		611039	"""solute carrier family 2 (facilitated glucose transporter), member 3 pseudogene 3"""	SLC2A3P3		12504846	Standard	NM_001286234		Approved	GLUT14	uc001qtn.3	Q8TDB8	OTTHUMG00000168463	ENST00000543909.1:c.1164T>C	12.37:g.7970607A>G		Somatic		Capture	Illumina HiSeq	Phase_I	7861874	B3KVB5|B3KWW7|B7Z844|B7ZAC3|Q6UY84|Q8TDB9	Silent	SNP	ENST00000543909.1	37	CCDS8585.1																																																																																				SLC2A14-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000399836.2	NM_153449	
KRAS	3845	hgsc.bcm.edu	37	12	25398281	25398281	+	Missense_Mutation	SNP	C	C	T	rs112445441		TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr12:25398281C>T	ENST00000256078.4	-	2	101	c.38G>A	c.(37-39)gGc>gAc	p.G13D	KRAS_ENST00000311936.3_Missense_Mutation_p.G13D|KRAS_ENST00000556131.1_Missense_Mutation_p.G13D|KRAS_ENST00000557334.1_Missense_Mutation_p.G13D	NM_033360.2	NP_203524.1	P01116	RASK_HUMAN	Kirsten rat sarcoma viral oncogene homolog	13			G -> D (in a breast carcinoma cell line and GASC; somatic mutation). {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:3627975}.|G -> R (in pylocytic astrocytoma; somatic mutation; increase activation of the Ras pathway). {ECO:0000269|PubMed:16247081}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cytokine-mediated signaling pathway (GO:0019221)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric-oxide synthase activity (GO:0051000)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to glucocorticoid (GO:0051384)|response to mineralocorticoid (GO:0051385)|small GTPase mediated signal transduction (GO:0007264)|social behavior (GO:0035176)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	focal adhesion (GO:0005925)|membrane (GO:0016020)|membrane raft (GO:0045121)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GMP binding (GO:0019002)|GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.G13D(3223)|p.G13V(33)|p.G13A(28)|p.G13E(3)|p.G13I(1)|p.G13N(1)|p.G13_V14>DI(1)|p.G13R(1)	UBE2L3/KRAS(2)	NS(6)|adrenal_gland(1)|autonomic_ganglia(3)|biliary_tract(532)|bone(2)|breast(32)|central_nervous_system(14)|cervix(50)|endometrium(411)|eye(4)|gastrointestinal_tract_(site_indeterminate)(7)|genital_tract(1)|haematopoietic_and_lymphoid_tissue(385)|kidney(8)|large_intestine(15267)|liver(29)|lung(3407)|oesophagus(16)|ovary(612)|pancreas(3739)|penis(1)|peritoneum(6)|prostate(96)|salivary_gland(6)|skin(45)|small_intestine(68)|soft_tissue(88)|stomach(207)|testis(17)|thymus(5)|thyroid(159)|upper_aerodigestive_tract(68)|urinary_tract(57)	25349	all_cancers(2;1e-35)|all_epithelial(2;1.97e-38)|all_lung(3;2.1e-23)|Lung NSC(3;1.16e-22)|Acute lymphoblastic leukemia(6;0.00231)|all_hematologic(7;0.00259)|Melanoma(3;0.0301)|Colorectal(261;0.11)|Ovarian(17;0.12)		OV - Ovarian serous cystadenocarcinoma(3;1.23e-21)|Epithelial(3;1.31e-20)|all cancers(3;5.45e-18)|STAD - Stomach adenocarcinoma(2;2.68e-05)			CTTGCCTACGCCACCAGCTCC	0.338	G13D(DLD1_LARGE_INTESTINE)|G13D(DV90_LUNG)|G13D(HCT116_LARGE_INTESTINE)|G13D(HCT15_LARGE_INTESTINE)|G13D(LOVO_LARGE_INTESTINE)|G13D(MDAMB231_BREAST)|G13D(NCIH647_LUNG)|G13D(NCIH747_LARGE_INTESTINE)|G13D(NOMO1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|G13D(T84_LARGE_INTESTINE)|G13D(TOLEDO_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)	119	Mis		"""pancreatic, colorectal, lung, thyroid, AML, others"""				Noonan syndrome;Cardiofaciocutaneous syndrome	TSP Lung(1;<1E-08)|Multiple Myeloma(2;<1E-6)																											Pancreas(8;6 143 191 305 2070 2426 4376 10944 11745 26467 38091 50869)			Dom	yes		12	12p12.1	3845	v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog		"""L, E, M, O"""	3291	Substitution - Missense(3290)|Complex - compound substitution(1)	large_intestine(2808)|haematopoietic_and_lymphoid_tissue(94)|lung(92)|endometrium(54)|soft_tissue(38)|ovary(38)|stomach(32)|pancreas(30)|thyroid(27)|biliary_tract(21)|prostate(20)|breast(10)|cervix(4)|gastrointestinal_tract_(site_indeterminate)(3)|upper_aerodigestive_tract(3)|urinary_tract(3)|liver(3)|salivary_gland(3)|small_intestine(3)|oesophagus(2)|skin(1)|genital_tract(1)|bone(1)	12											88.0	78.0	82.0					12																	25398281		2203	4300	6503	25289548	SO:0001583	missense	3845	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome;CFC, CFCS	BC010502	CCDS8702.1, CCDS8703.1	12p12.1	2014-09-17	2013-07-08	2005-01-24	ENSG00000133703	ENSG00000133703			6407	protein-coding gene	gene with protein product		190070	"""v-Ki-ras2 Kirsten rat sarcoma 2 viral oncogene homolog"", ""v-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog"""	KRAS2			Standard	NM_004985		Approved	KRAS1	uc001rgp.1	P01116		ENST00000256078.4:c.38G>A	12.37:g.25398281C>T	ENSP00000256078:p.Gly13Asp	Somatic		Capture	Illumina HiSeq	Phase_I	25289548	A8K8Z5|B0LPF9|P01118|Q96D10	Missense_Mutation	SNP	ENST00000256078.4	37	CCDS8703.1	.	.	.	.	.	.	.	.	.	.	C	27.8	4.867862	0.91587	.	.	ENSG00000133703	ENST00000311936;ENST00000557334;ENST00000256078;ENST00000556131	D;T;T;T	0.82803	-1.65;-0.7;-0.7;-0.7	5.68	5.68	0.88126	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.90079	0.6901	M	0.93062	3.375	0.80722	D	1	B;P	0.43314	0.215;0.803	B;P	0.46172	0.175;0.506	D	0.92106	0.5692	10	0.87932	D	0	.	18.3719	0.90409	0.0:1.0:0.0:0.0	.	13;13	P01116-2;P01116	.;RASK_HUMAN	D	13	ENSP00000308495:G13D;ENSP00000452512:G13D;ENSP00000256078:G13D;ENSP00000451856:G13D	ENSP00000256078:G13D	G	-	2	0	KRAS	25289548	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.743000	0.85020	2.668000	0.90789	0.563000	0.77884	GGC		KRAS-004	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000412232.1	NM_033360	
CAPRIN2	65981	hgsc.bcm.edu	37	12	30882099	30882099	+	Missense_Mutation	SNP	G	G	T			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr12:30882099G>T	ENST00000395805.2	-	8	1812	c.1265C>A	c.(1264-1266)tCc>tAc	p.S422Y	CAPRIN2_ENST00000298892.5_Missense_Mutation_p.S422Y|CAPRIN2_ENST00000251071.5_Missense_Mutation_p.S422Y|CAPRIN2_ENST00000308433.5_Missense_Mutation_p.S89Y|CAPRIN2_ENST00000538387.1_5'UTR|CAPRIN2_ENST00000417045.1_Missense_Mutation_p.S422Y	NM_001206856.1	NP_001193785.1			caprin family member 2											breast(1)|central_nervous_system(1)|endometrium(8)|kidney(4)|large_intestine(13)|lung(16)|ovary(1)|prostate(2)|skin(1)|urinary_tract(1)	48	all_lung(12;1.13e-09)|Lung NSC(12;7.98e-08)|Acute lymphoblastic leukemia(23;0.0122)|all_hematologic(23;0.0355)|Lung SC(12;0.0905)|Esophageal squamous(101;0.233)					AGCCTCCCAGGACTTAAAGGA	0.468																																																	0			12											109.0	104.0	106.0					12																	30882099		2203	4300	6503	30773366	SO:0001583	missense	65981			AY074491	CCDS8720.1, CCDS41766.1, CCDS41766.2, CCDS55816.1	12p11	2010-08-03	2007-03-27	2007-03-27	ENSG00000110888	ENSG00000110888			21259	protein-coding gene	gene with protein product		610375	"""C1q domain containing 1"""	C1QDC1		11347906, 14764709	Standard	NM_001002259		Approved	EEG1, FLJ22569, FLJ11391, caprin-2, RNG140	uc001rji.1	Q6IMN6	OTTHUMG00000169185	ENST00000395805.2:c.1265C>A	12.37:g.30882099G>T	ENSP00000379150:p.Ser422Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	30773366		Missense_Mutation	SNP	ENST00000395805.2	37	CCDS55816.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.932146	0.73442	.	.	ENSG00000110888	ENST00000433722;ENST00000298892;ENST00000395805;ENST00000251071;ENST00000308433;ENST00000417045;ENST00000438006;ENST00000537108	T;T;T;T;T;T;T	0.75938	2.37;-0.7;2.78;-0.67;-0.98;2.77;2.4	4.94	4.94	0.65067	.	0.393919	0.19479	N	0.113277	T	0.76126	0.3944	N	0.14661	0.345	0.38710	D	0.953209	D;D;D;D;D;D;D	0.76494	0.995;0.999;0.991;0.995;0.976;0.986;0.976	P;D;P;P;P;P;P	0.68943	0.885;0.961;0.77;0.885;0.656;0.742;0.556	T	0.81634	-0.0844	10	0.72032	D	0.01	-7.1896	16.7176	0.85400	0.0:0.0:1.0:0.0	.	422;148;422;422;422;422;422	Q6IMN6-6;E9PAU5;Q149P6;Q6IMN6-3;Q6IMN6;Q6IMN6-2;E4NKG2	.;.;.;.;CAPR2_HUMAN;.;.	Y	168;422;422;422;89;422;148;341	ENSP00000415407:S168Y;ENSP00000298892:S422Y;ENSP00000379150:S422Y;ENSP00000251071:S422Y;ENSP00000309785:S89Y;ENSP00000391479:S422Y;ENSP00000438010:S341Y	ENSP00000251071:S422Y	S	-	2	0	CAPRIN2	30773366	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	4.054000	0.57434	2.443000	0.82685	0.655000	0.94253	TCC		CAPRIN2-004	PUTATIVE	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000403322.2	NM_023925	
LRRK2	120892	hgsc.bcm.edu	37	12	40668475	40668475	+	Nonsense_Mutation	SNP	G	G	T			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr12:40668475G>T	ENST00000298910.7	+	15	1805	c.1747G>T	c.(1747-1749)Gaa>Taa	p.E583*	LRRK2_ENST00000343742.2_Nonsense_Mutation_p.E583*	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	583					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GTTATCCCTGGAAGGTGCTAT	0.363																																																	0			12											150.0	148.0	148.0					12																	40668475		2203	4300	6503	38954742	SO:0001587	stop_gained	120892			AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.1747G>T	12.37:g.40668475G>T	ENSP00000298910:p.Glu583*	Somatic		Capture	Illumina HiSeq	Phase_I	38954742	A6NJU2|Q6ZS50|Q8NCX9	Nonsense_Mutation	SNP	ENST00000298910.7	37	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	G	37	6.550654	0.97658	.	.	ENSG00000188906	ENST00000416796;ENST00000343742;ENST00000298910	.	.	.	5.97	4.08	0.47627	.	0.163970	0.56097	D	0.000036	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	.	14.8938	0.70627	0.0:0.5845:0.4155:0.0	.	.	.	.	X	331;583;583	.	ENSP00000298910:E583X	E	+	1	0	LRRK2	38954742	1.000000	0.71417	1.000000	0.80357	0.649000	0.38597	2.721000	0.47260	1.492000	0.48499	0.585000	0.79938	GAA		LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513	
C15orf39	56905	hgsc.bcm.edu	37	15	75499747	75499747	+	Missense_Mutation	SNP	G	G	A			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr15:75499747G>A	ENST00000360639.2	+	2	1678	c.1358G>A	c.(1357-1359)cGg>cAg	p.R453Q	C15orf39_ENST00000567617.1_Missense_Mutation_p.R453Q|C15orf39_ENST00000394987.4_Missense_Mutation_p.R453Q			Q6ZRI6	CO039_HUMAN	chromosome 15 open reading frame 39	453						cytoplasm (GO:0005737)				autonomic_ganglia(1)|breast(2)|endometrium(3)|large_intestine(4)|lung(4)|skin(1)|upper_aerodigestive_tract(1)	16						CTCCAGCCCCGGCTCAGTGAG	0.652																																																	0			15											33.0	41.0	38.0					15																	75499747		2197	4295	6492	73286800	SO:0001583	missense	56905			AK128205	CCDS10276.1	15q23	2013-03-14	2005-10-24		ENSG00000167173	ENSG00000167173			24497	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 38~Name Same As HGNC:28782"""				Standard	NM_015492		Approved	DKFZP434H132, FLJ46337	uc002azq.4	Q6ZRI6	OTTHUMG00000142820	ENST00000360639.2:c.1358G>A	15.37:g.75499747G>A	ENSP00000353854:p.Arg453Gln	Somatic		Capture	Illumina HiSeq	Phase_I	73286800	B3KWI3|C9J888|Q71JB1|Q7L3S0|Q8N3F2|Q96FB6|Q9NTU5	Missense_Mutation	SNP	ENST00000360639.2	37	CCDS10276.1	.	.	.	.	.	.	.	.	.	.	G	10.09	1.253716	0.22965	.	.	ENSG00000167173	ENST00000360639;ENST00000394987	T;T	0.63913	-0.07;-0.07	4.86	-7.13	0.01532	.	1.216240	0.06401	N	0.718743	T	0.30198	0.0757	N	0.05510	-0.035	0.09310	N	1	B	0.12013	0.005	B	0.04013	0.001	T	0.10941	-1.0608	10	0.21540	T	0.41	-2.4066	1.8518	0.03171	0.3427:0.2178:0.33:0.1095	.	453	Q6ZRI6	CO039_HUMAN	Q	453	ENSP00000353854:R453Q;ENSP00000378438:R453Q	ENSP00000353854:R453Q	R	+	2	0	C15orf39	73286800	0.000000	0.05858	0.001000	0.08648	0.301000	0.27625	-0.809000	0.04510	-1.513000	0.01789	0.462000	0.41574	CGG		C15orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286410.1	NM_015492	
MXRA5	25878	hgsc.bcm.edu	37	X	3239201	3239201	+	Missense_Mutation	SNP	T	T	C			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chrX:3239201T>C	ENST00000217939.6	-	5	4679	c.4525A>G	c.(4525-4527)Act>Gct	p.T1509A		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1509						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				GCTGGCTTAGTGGTGGTGGTT	0.473																																																	0			X											151.0	132.0	138.0					X																	3239201		2203	4300	6503	3249201	SO:0001583	missense	25878			AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.4525A>G	X.37:g.3239201T>C	ENSP00000217939:p.Thr1509Ala	Somatic		Capture	Illumina HiSeq	Phase_I	3249201	Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	t	0.041	-1.285341	0.01387	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.62788	0.0	2.87	-3.72	0.04411	.	0.837651	0.09848	N	0.747936	T	0.30727	0.0774	N	0.08118	0	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.24154	-1.0168	10	0.09590	T	0.72	.	5.0762	0.14632	0.0:0.3822:0.309:0.3088	.	1509	Q9NR99	MXRA5_HUMAN	A	1509	ENSP00000217939:T1509A	ENSP00000217939:T1509A	T	-	1	0	MXRA5	3249201	0.011000	0.17503	0.000000	0.03702	0.009000	0.06853	0.292000	0.19011	-0.862000	0.04089	0.225000	0.17782	ACT		MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419	
NHS	4810	hgsc.bcm.edu	37	X	17750558	17750558	+	Missense_Mutation	SNP	G	G	T			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chrX:17750558G>T	ENST00000380060.3	+	8	5205	c.4867G>T	c.(4867-4869)Gac>Tac	p.D1623Y	NHS_ENST00000398097.3_Missense_Mutation_p.D1467Y	NM_198270.2	NP_938011.1	Q6T4R5	NHS_HUMAN	Nance-Horan syndrome (congenital cataracts and dental anomalies)	1644					cell differentiation (GO:0030154)|lens development in camera-type eye (GO:0002088)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|tight junction (GO:0005923)				breast(5)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(1)|lung(26)|ovary(2)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	71	Hepatocellular(33;0.183)					CCCACATGACGACCGTTCCTC	0.567																																																	0			X											74.0	76.0	75.0					X																	17750558		2203	4300	6503	17660479	SO:0001583	missense	4810				CCDS14181.1, CCDS48087.1	Xp22.3-p21.1	2014-06-18			ENSG00000188158	ENSG00000188158			7820	protein-coding gene	gene with protein product		300457					Standard	NM_001136024		Approved		uc004cxx.3	Q6T4R5	OTTHUMG00000022799	ENST00000380060.3:c.4867G>T	X.37:g.17750558G>T	ENSP00000369400:p.Asp1623Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	17660479	B7ZVX8|E2DH69|Q5J7Q0|Q5J7Q1|Q68DR5	Missense_Mutation	SNP	ENST00000380060.3	37	CCDS14181.1	.	.	.	.	.	.	.	.	.	.	G	22.1	4.248520	0.80024	.	.	ENSG00000188158	ENST00000380060;ENST00000398097;ENST00000380057	T;T	0.57907	0.37;0.38	5.87	5.87	0.94306	.	0.095474	0.64402	D	0.000001	T	0.72953	0.3525	M	0.68952	2.095	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	T	0.74172	-0.3751	10	0.72032	D	0.01	-23.1882	19.3889	0.94570	0.0:0.0:1.0:0.0	.	1644;1465;1467;1623	B7ZVX8;C9IYM8;Q6T4R5-2;Q6T4R5	.;.;.;NHS_HUMAN	Y	1623;1467;1465	ENSP00000369400:D1623Y;ENSP00000381170:D1467Y	ENSP00000369397:D1465Y	D	+	1	0	NHS	17660479	1.000000	0.71417	0.955000	0.39395	0.678000	0.39670	9.226000	0.95229	2.618000	0.88619	0.600000	0.82982	GAC		NHS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059120.1	NM_198270	
CLCN5	1184	hgsc.bcm.edu	37	X	49851219	49851219	+	Nonsense_Mutation	SNP	C	C	T			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chrX:49851219C>T	ENST00000307367.2	+	8	1330	c.1039C>T	c.(1039-1041)Cga>Tga	p.R347*	CLCN5_ENST00000376088.3_Nonsense_Mutation_p.R417*|CLCN5_ENST00000376091.3_Nonsense_Mutation_p.R417*|CLCN5_ENST00000376108.3_Nonsense_Mutation_p.R347*			P51795	CLCN5_HUMAN	chloride channel, voltage-sensitive 5	347					chloride transmembrane transport (GO:1902476)|endocytosis (GO:0006897)|excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)|transport (GO:0006810)	apical part of cell (GO:0045177)|endosome membrane (GO:0010008)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)	antiporter activity (GO:0015297)|ATP binding (GO:0005524)|chloride channel activity (GO:0005254)|voltage-gated chloride channel activity (GO:0005247)			central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(11)|lung(8)|ovary(2)|skin(1)	30	Ovarian(276;0.236)					GTGTCGGAAGCGAAAGACCAC	0.512																																																	0			X	GRCh37	CM983859	CLCN5	M							110.0	86.0	94.0					X																	49851219		2203	4300	6503	49737959	SO:0001587	stop_gained	1184			X91906	CCDS14328.1, CCDS48115.1, CCDS69763.1	Xp11.23-p11.22	2012-09-26	2012-02-23		ENSG00000171365	ENSG00000171365		"""Ion channels / Chloride channels : Voltage-sensitive"""	2023	protein-coding gene	gene with protein product	"""Dent disease"""	300008	"""nephrolithiasis 2, X-linked"", ""nephrolithiasis 1 (X-linked)"", ""chloride channel 5"""	NPHL2, NPHL1		7874126, 8111383, 8099916, 8559248, 9602200	Standard	NM_001272102		Approved	DENTS, XLRH, hClC-K2, hCIC-K2, CLC5, XRN, ClC-5	uc004doq.1	P51795	OTTHUMG00000021514	ENST00000307367.2:c.1039C>T	X.37:g.49851219C>T	ENSP00000304257:p.Arg347*	Somatic		Capture	Illumina HiSeq	Phase_I	49737959	A1L475|B3KPN6|Q5JQD5|Q7RTN8	Nonsense_Mutation	SNP	ENST00000307367.2	37	CCDS14328.1	.	.	.	.	.	.	.	.	.	.	C	40	8.131018	0.98670	.	.	ENSG00000171365	ENST00000376088;ENST00000450422;ENST00000376091;ENST00000376108;ENST00000307367	.	.	.	5.7	5.7	0.88788	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-2.7086	17.5228	0.87792	0.0:1.0:0.0:0.0	.	.	.	.	X	417;249;417;347;347	.	ENSP00000304257:R347X	R	+	1	2	CLCN5	49737959	1.000000	0.71417	0.995000	0.50966	0.803000	0.45373	3.995000	0.57001	2.408000	0.81797	0.436000	0.28706	CGA		CLCN5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056544.1		
TAF1	6872	hgsc.bcm.edu	37	X	70603938	70603938	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chrX:70603938A>G	ENST00000373790.4	+	13	2122	c.2071A>G	c.(2071-2073)Atg>Gtg	p.M691V	TAF1_ENST00000276072.3_Missense_Mutation_p.M712V|TAF1_ENST00000449580.1_Missense_Mutation_p.M691V|TAF1_ENST00000423759.1_Missense_Mutation_p.M712V	NM_004606.3|NM_138923.2	NP_004597.2|NP_620278.1	P21675	TAF1_HUMAN	TAF1 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 250kDa	691	Histone acetyltransferase (HAT).		M -> I (in a lung bronchoalveolar carcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		cellular response to DNA damage stimulus (GO:0006974)|DNA-templated transcription, initiation (GO:0006352)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|protein autophosphorylation (GO:0046777)|regulation of transcription involved in G2/M transition of mitotic cell cycle (GO:0000117)|RNA polymerase II transcriptional preinitiation complex assembly (GO:0051123)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	MLL1 complex (GO:0071339)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	ATP binding (GO:0005524)|histone acetyltransferase activity (GO:0004402)|lysine-acetylated histone binding (GO:0070577)|p53 binding (GO:0002039)|protein serine/threonine kinase activity (GO:0004674)|sequence-specific DNA binding (GO:0043565)|TBP-class protein binding (GO:0017025)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)			breast(13)|central_nervous_system(6)|cervix(1)|endometrium(25)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(16)|lung(34)|ovary(9)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(3)	124	Renal(35;0.156)	all_lung(315;0.000321)				TGGACCCTTAATGATGCAGGT	0.408																																																	0			X											129.0	107.0	115.0					X																	70603938		2203	4298	6501	70520663	SO:0001583	missense	6872				CCDS14412.1, CCDS35325.1, CCDS69783.1	Xq13.1	2011-07-01	2002-08-29	2001-12-07	ENSG00000147133	ENSG00000147133		"""Chromatin-modifying enzymes / K-acetyltransferases"""	11535	protein-coding gene	gene with protein product		313650	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, A, 250kD"", ""dystonia 3 (with Parkinsonism)"""	TAF2A, BA2R, CCG1, CCGS, DYT3		3556424, 12928496, 17952504	Standard	XM_005262295		Approved	NSCL2, TAFII250, KAT4, DYT3/TAF1	uc004dzt.4	P21675	OTTHUMG00000022723	ENST00000373790.4:c.2071A>G	X.37:g.70603938A>G	ENSP00000362895:p.Met691Val	Somatic		Capture	Illumina HiSeq	Phase_I	70520663	A5CVC8|A5CVC9|A5CVD0|A5CVD1|B1Q2X3|Q59FZ3|Q6IUZ1|Q70Q86|Q70Q87|Q70T00|Q70T01|Q70T02|Q70T03	Missense_Mutation	SNP	ENST00000373790.4	37	CCDS35325.1	.	.	.	.	.	.	.	.	.	.	.	12.72	2.021232	0.35701	.	.	ENSG00000147133	ENST00000373790;ENST00000449580;ENST00000423759;ENST00000276072	T;T;T;T	0.14391	2.51;2.51;2.51;2.51	5.88	5.88	0.94601	Transcription initiation factor TFIID subunit 1, domain of unknown function (1);	0.176391	0.64402	D	0.000011	T	0.13372	0.0324	L	0.28740	0.885	0.35957	D	0.834345	B;B	0.14012	0.009;0.007	B;B	0.22880	0.042;0.012	T	0.07809	-1.0753	10	0.52906	T	0.07	.	15.2112	0.73225	1.0:0.0:0.0:0.0	.	691;712	P21675;P21675-2	TAF1_HUMAN;.	V	691;691;712;712	ENSP00000362895:M691V;ENSP00000389000:M691V;ENSP00000406549:M712V;ENSP00000276072:M712V	ENSP00000276072:M712V	M	+	1	0	TAF1	70520663	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.495000	0.60353	1.976000	0.57569	0.486000	0.48141	ATG		TAF1-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000058995.2	NM_004606	
HMGN5	79366	hgsc.bcm.edu	37	X	80370223	80370223	+	Silent	SNP	T	T	C			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chrX:80370223T>C	ENST00000358130.2	-	7	1102	c.774A>G	c.(772-774)gaA>gaG	p.E258E	HMGN5_ENST00000491275.1_5'Flank	NM_030763.2	NP_110390.1	P82970	HMGN5_HUMAN	high mobility group nucleosome binding domain 5	258					chromatin modification (GO:0016568)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromatin (GO:0000785)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(3)	10						cttcttcctcttcttttaaat	0.343																																																	0			X											240.0	213.0	222.0					X																	80370223		1620	2844	4464	80256879	SO:0001819	synonymous_variant	0			AF250329	CCDS14448.1	Xq13.3	2011-07-01	2011-04-05	2009-09-15	ENSG00000198157	ENSG00000198157		"""High-mobility group / Canonical"""	8013	protein-coding gene	gene with protein product		300385	"""nucleosomal binding protein 1"", ""high-mobility group nucleosome binding domain 5"""	NSBP1		11161810, 19748358	Standard	NM_030763		Approved		uc004eee.1	P82970	OTTHUMG00000021911	ENST00000358130.2:c.774A>G	X.37:g.80370223T>C		Somatic		Capture	Illumina HiSeq	Phase_I	80256879	Q5JSL1	Silent	SNP	ENST00000358130.2	37	CCDS14448.1																																																																																				HMGN5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057354.1	NM_030763	
CXorf57	55086	hgsc.bcm.edu	37	X	105868476	105868476	+	Missense_Mutation	SNP	C	C	T			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chrX:105868476C>T	ENST00000372548.4	+	3	1052	c.943C>T	c.(943-945)Ccc>Tcc	p.P315S	CXorf57_ENST00000372544.2_Missense_Mutation_p.P315S	NM_018015.5	NP_060485.4	Q6NSI4	CX057_HUMAN	chromosome X open reading frame 57	315							poly(A) RNA binding (GO:0044822)	p.P315S(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(11)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	31						ACAGCCTGTCCCCGTGGATCC	0.368																																																	1	Substitution - Missense(1)	ovary(1)	X											125.0	110.0	115.0					X																	105868476		2203	4300	6503	105755132	SO:0001583	missense	55086			AK024253	CCDS14519.1, CCDS55470.1	Xq22.3	2008-02-05			ENSG00000147231	ENSG00000147231			25486	protein-coding gene	gene with protein product							Standard	NM_018015		Approved	FLJ14191, FLJ10178	uc004emi.4	Q6NSI4	OTTHUMG00000022150	ENST00000372548.4:c.943C>T	X.37:g.105868476C>T	ENSP00000361628:p.Pro315Ser	Somatic		Capture	Illumina HiSeq	Phase_I	105755132	H7BY89|Q4G0L7|Q5JQS1|Q5JRF9|Q6PHY5|Q6PII9|Q6PJU8|Q9H7W5|Q9NWA6	Missense_Mutation	SNP	ENST00000372548.4	37	CCDS14519.1	.	.	.	.	.	.	.	.	.	.	C	10.57	1.388357	0.25118	.	.	ENSG00000147231	ENST00000372544;ENST00000372548;ENST00000421550	T;T;T	0.46063	0.89;0.88;0.92	3.89	3.02	0.34903	Nucleic acid-binding, OB-fold-like (1);	0.238642	0.42172	D	0.000750	T	0.48484	0.1502	L	0.41236	1.265	0.35581	D	0.806287	B;B;D	0.76494	0.297;0.297;0.999	B;B;D	0.85130	0.134;0.134;0.997	T	0.51092	-0.8749	10	0.13108	T	0.6	-9.1425	10.2285	0.43241	0.0:0.8931:0.0:0.1069	.	315;315;315	A8K6R5;Q6NSI4;Q6NSI4-2	.;CX057_HUMAN;.	S	315;315;123	ENSP00000361623:P315S;ENSP00000361628:P315S;ENSP00000405866:P123S	ENSP00000361623:P315S	P	+	1	0	CXorf57	105755132	0.350000	0.24878	0.389000	0.26208	0.162000	0.22319	2.922000	0.48860	0.755000	0.32990	-0.192000	0.12808	CCC		CXorf57-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057800.2	NM_018015	
RGAG1	57529	hgsc.bcm.edu	37	X	109694989	109694989	+	Missense_Mutation	SNP	T	T	C			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chrX:109694989T>C	ENST00000465301.2	+	3	1390	c.1144T>C	c.(1144-1146)Tct>Cct	p.S382P	RGAG1_ENST00000540313.1_Missense_Mutation_p.S382P	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	382										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						AAATGTAGACTCTGAAATGAT	0.542																																																	0			X											174.0	179.0	177.0					X																	109694989		2203	4300	6503	109581645	SO:0001583	missense	57529			AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.1144T>C	X.37:g.109694989T>C	ENSP00000419786:p.Ser382Pro	Somatic		Capture	Illumina HiSeq	Phase_I	109581645	Q9P2M8	Missense_Mutation	SNP	ENST00000465301.2	37	CCDS14552.1	.	.	.	.	.	.	.	.	.	.	T	12.00	1.807497	0.31961	.	.	ENSG00000243978	ENST00000465301;ENST00000540313;ENST00000540483	T;T	0.57595	0.39;0.39	4.28	0.404	0.16355	.	0.679439	0.12217	N	0.488771	T	0.29423	0.0733	N	0.19112	0.55	0.09310	N	1	B	0.17268	0.021	B	0.19946	0.027	T	0.16719	-1.0393	9	.	.	.	-0.6536	1.8684	0.03203	0.1636:0.0978:0.1662:0.5724	.	382	Q8NET4	RGAG1_HUMAN	P	382	ENSP00000419786:S382P;ENSP00000441452:S382P	.	S	+	1	0	RGAG1	109581645	0.100000	0.21855	0.002000	0.10522	0.263000	0.26337	-0.694000	0.05115	-0.030000	0.13804	0.486000	0.48141	TCT		RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769	
CAPN6	827	hgsc.bcm.edu	37	X	110494229	110494229	+	Silent	SNP	T	T	C			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chrX:110494229T>C	ENST00000324068.1	-	8	1241	c.1074A>G	c.(1072-1074)ggA>ggG	p.G358G	CAPN6_ENST00000541758.1_Silent_p.G103G	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	358	Domain III.		G -> R (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		microtubule bundle formation (GO:0001578)|proteolysis (GO:0006508)|regulation of cytoskeleton organization (GO:0051493)	perinuclear region of cytoplasm (GO:0048471)|spindle microtubule (GO:0005876)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|microtubule binding (GO:0008017)			cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						CAGTCCAGCATCCCAACACCG	0.493																																																	0			X											330.0	288.0	302.0					X																	110494229		2203	4300	6503	110380885	SO:0001819	synonymous_variant	827			AF029232	CCDS14555.1	Xq23	2008-07-29			ENSG00000077274	ENSG00000077274			1483	protein-coding gene	gene with protein product		300146				9503024, 9339374	Standard	NM_014289		Approved	CAPNX, CalpM, CANPX	uc004epc.2	Q9Y6Q1	OTTHUMG00000022203	ENST00000324068.1:c.1074A>G	X.37:g.110494229T>C		Somatic		Capture	Illumina HiSeq	Phase_I	110380885	D3DUY7|Q9UEQ1|Q9UJA8	Silent	SNP	ENST00000324068.1	37	CCDS14555.1																																																																																				CAPN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057922.1		
NKAP	79576	hgsc.bcm.edu	37	X	119064064	119064064	+	Missense_Mutation	SNP	G	G	A			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chrX:119064064G>A	ENST00000371410.3	-	8	1154	c.988C>T	c.(988-990)Cgt>Tgt	p.R330C	NKAP_ENST00000477789.1_5'UTR	NM_024528.3	NP_078804.2	Q8N5F7	NKAP_HUMAN	NFKB activating protein	330	Necessary for interaction with HDAC3 and transcriptional repression.				granulocyte differentiation (GO:0030851)|hematopoietic stem cell proliferation (GO:0071425)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling pathway (GO:0007219)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|stem cell maintenance (GO:0019827)|T cell differentiation in thymus (GO:0033077)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(1)|lung(4)|ovary(2)|prostate(1)	20						CGTGGGATACGTTTTCCAGCT	0.408																																																	0			X											154.0	132.0	139.0					X																	119064064		2203	4300	6503	118948092	SO:0001583	missense	79576			BC012770	CCDS14592.1	Xq24	2010-07-20			ENSG00000101882	ENSG00000101882			29873	protein-coding gene	gene with protein product	"""NF kappaB activating protein"""	300766				14550261	Standard	NM_024528		Approved	FLJ22626	uc004esh.3	Q8N5F7	OTTHUMG00000022284	ENST00000371410.3:c.988C>T	X.37:g.119064064G>A	ENSP00000360464:p.Arg330Cys	Somatic		Capture	Illumina HiSeq	Phase_I	118948092	Q6IPW6|Q96BQ2|Q9H638	Missense_Mutation	SNP	ENST00000371410.3	37	CCDS14592.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.222179	0.79464	.	.	ENSG00000101882	ENST00000371410	T	0.57436	0.4	5.27	5.27	0.74061	.	0.053550	0.64402	D	0.000001	T	0.76572	0.4006	M	0.92507	3.315	0.80722	D	1	D	0.69078	0.997	P	0.59643	0.861	D	0.83381	0.0012	10	0.87932	D	0	-9.6259	16.9007	0.86113	0.0:0.0:1.0:0.0	.	330	Q8N5F7	NKAP_HUMAN	C	330	ENSP00000360464:R330C	ENSP00000360464:R330C	R	-	1	0	NKAP	118948092	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.211000	0.65219	2.457000	0.83068	0.600000	0.82982	CGT		NKAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058072.1	NM_024528	
ZNF449	203523	hgsc.bcm.edu	37	X	134493889	134493889	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chrX:134493889A>G	ENST00000339249.4	+	4	772	c.632A>G	c.(631-633)cAg>cGg	p.Q211R		NM_152695.5	NP_689908.3	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	211					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					AAGGAATTACAGGATTCTAAA	0.328																																																	0			X											100.0	97.0	98.0					X																	134493889		2203	4299	6502	134321555	SO:0001583	missense	203523			AY280801	CCDS14649.1	Xq26.3	2013-01-09			ENSG00000173275	ENSG00000173275		"""-"", ""Zinc fingers, C2H2-type"""	21039	protein-coding gene	gene with protein product		300627					Standard	NM_152695		Approved	ZSCAN19, FLJ23614	uc004eys.3	Q6P9G9	OTTHUMG00000022478	ENST00000339249.4:c.632A>G	X.37:g.134493889A>G	ENSP00000339585:p.Gln211Arg	Somatic		Capture	Illumina HiSeq	Phase_I	134321555	Q5JRZ7|Q5JRZ8|Q6NZX2|Q8N3Q1|Q8TED7	Missense_Mutation	SNP	ENST00000339249.4	37	CCDS14649.1	.	.	.	.	.	.	.	.	.	.	A	12.97	2.096944	0.37048	.	.	ENSG00000173275	ENST00000339249	T	0.05925	3.37	4.85	4.85	0.62838	.	0.161421	0.29572	N	0.011763	T	0.04770	0.0129	N	0.24115	0.695	0.80722	D	1	B	0.26635	0.155	B	0.25759	0.063	T	0.45556	-0.9253	10	0.14252	T	0.57	.	11.5598	0.50769	1.0:0.0:0.0:0.0	.	211	Q6P9G9	ZN449_HUMAN	R	211	ENSP00000339585:Q211R	ENSP00000339585:Q211R	Q	+	2	0	ZNF449	134321555	0.020000	0.18652	0.963000	0.40424	0.973000	0.67179	1.028000	0.30128	1.932000	0.55993	0.425000	0.28330	CAG		ZNF449-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058411.1	NM_152695	
SPANXN3	139067	hgsc.bcm.edu	37	X	142596797	142596797	+	Silent	SNP	T	T	C			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chrX:142596797T>C	ENST00000370503.2	-	2	356	c.273A>G	c.(271-273)ttA>ttG	p.L91L	GS1-256O22.5_ENST00000431432.1_RNA	NM_001009609.2	NP_001009609.1	Q5MJ09	SPXN3_HUMAN	SPANX family, member N3	91										endometrium(1)|large_intestine(1)|lung(9)|ovary(2)|urinary_tract(1)	14	Acute lymphoblastic leukemia(192;6.56e-05)					ATCCTTCAGATAAGTCTACGC	0.443																																																	0			X											216.0	178.0	191.0					X																	142596797		2203	4300	6503	142424463	SO:0001819	synonymous_variant	139067				CCDS35418.1	Xq27.3	2012-06-12			ENSG00000189252	ENSG00000189252			33176	protein-coding gene	gene with protein product	"""cancer/testis antigen family 11, member 8"""	300666				14973187, 17012309	Standard	NM_001009609		Approved	SPANX-N3, CT11.8	uc004fbw.3	Q5MJ09	OTTHUMG00000022582	ENST00000370503.2:c.273A>G	X.37:g.142596797T>C		Somatic		Capture	Illumina HiSeq	Phase_I	142424463	Q0ZNK4	Silent	SNP	ENST00000370503.2	37	CCDS35418.1																																																																																				SPANXN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058620.2	NM_001009609	
CRIPAK	285464	hgsc.bcm.edu	37	4	1388790	1388790	+	Missense_Mutation	SNP	T	T	C	rs79415192		TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr4:1388790T>C	ENST00000324803.4	+	1	3451	c.491T>C	c.(490-492)gTg>gCg	p.V164A		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	164					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of protein kinase activity (GO:0006469)|regulation of cytoskeleton organization (GO:0051493)|response to estrogen (GO:0043627)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)|plasma membrane (GO:0005886)		p.V164A(1)		NS(3)|breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(11)|ovary(1)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(1)	35			OV - Ovarian serous cystadenocarcinoma(23;0.0106)			CGTGCCGACGTGGAGTGCCCG	0.692																																																	1	Substitution - Missense(1)	lung(1)	4											180.0	124.0	143.0					4																	1388790		2201	4281	6482	1378790	SO:0001583	missense	285464			AK096209	CCDS3349.1	4p16.3	2011-02-10	2006-09-04		ENSG00000179979	ENSG00000179979			26619	protein-coding gene	gene with protein product		610203	"""cysteine-rich PAK1inhibitor"""			16278681	Standard	NM_175918		Approved	FLJ34443	uc003gdf.2	Q8N1N5	OTTHUMG00000121131	ENST00000324803.4:c.491T>C	4.37:g.1388790T>C	ENSP00000323978:p.Val164Ala	Somatic		Capture	Illumina HiSeq	Phase_I	1378790	Q8NB03	Missense_Mutation	SNP	ENST00000324803.4	37	CCDS3349.1	.	.	.	.	.	.	.	.	.	.	t	1.148	-0.647432	0.03506	.	.	ENSG00000179979	ENST00000324803	T	0.24350	1.86	1.25	-2.49	0.06403	.	.	.	.	.	T	0.08714	0.0216	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.20174	-1.0283	9	0.14252	T	0.57	.	0.8761	0.01224	0.1598:0.3215:0.2492:0.2695	.	164	Q8N1N5	CRPAK_HUMAN	A	164	ENSP00000323978:V164A	ENSP00000323978:V164A	V	+	2	0	CRIPAK	1378790	0.000000	0.05858	0.000000	0.03702	0.005000	0.04900	-0.847000	0.04331	-2.974000	0.00285	-1.550000	0.00899	GTG		CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918	
CC2D2A	57545	hgsc.bcm.edu	37	4	15560806	15560806	+	Nonsense_Mutation	SNP	C	C	T	rs118204053		TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr4:15560806C>T	ENST00000503292.1	+	23	3028	c.2848C>T	c.(2848-2850)Cga>Tga	p.R950*	CC2D2A_ENST00000413206.1_Nonsense_Mutation_p.R950*|CC2D2A_ENST00000389652.5_Nonsense_Mutation_p.R901*|CC2D2A_ENST00000424120.1_Nonsense_Mutation_p.R950*	NM_001080522.2	NP_001073991.2	Q9P2K1	C2D2A_HUMAN	coiled-coil and C2 domain containing 2A	950					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|smoothened signaling pathway (GO:0007224)	ciliary transition zone (GO:0035869)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|TCTN-B9D complex (GO:0036038)				NS(1)|breast(2)|central_nervous_system(1)|endometrium(6)|kidney(1)|large_intestine(8)|lung(5)|ovary(1)|pancreas(2)|prostate(2)|skin(1)|urinary_tract(2)	32						GAAACGGTTACGAGACAGAAA	0.353																																																	0			4	GRCh37	CM085305	CC2D2A	M	rs118204053	C	stop/ARG	1,3601		0,1,1800	60.0	56.0	57.0	http://www.ncbi.nlm.nih.gov/sites/varvu?gene	2848	5.4	1.0	4	dbSNP_132	57	0,8056		0,0,4028	no	stop-gained	CC2D2A	NM_001080522.2		0,1,5828	TT,TC,CC		0.0,0.0278,0.0086		950/1621	15560806	1,11657	1801	4028	5829	15169904	SO:0001587	stop_gained	57545			AB037766, EU450799	CCDS47026.1, CCDS47027.1, CCDS47027.2, CCDS54744.1	4p15.33	2014-09-17	2007-10-19		ENSG00000048342	ENSG00000048342			29253	protein-coding gene	gene with protein product	"""Meckel syndrome, type 6"""	612013				10718198, 18513680	Standard	NM_001080522		Approved	KIAA1345, MKS6, JBTS9	uc010idv.2	Q9P2K1	OTTHUMG00000160255	ENST00000503292.1:c.2848C>T	4.37:g.15560806C>T	ENSP00000421809:p.Arg950*	Somatic		Capture	Illumina HiSeq	Phase_I	15169904	A6ND97|B3FW08|D6RB72|E7EP21|E9PEV5|Q3SYP3|Q9H8A7	Nonsense_Mutation	SNP	ENST00000503292.1	37	CCDS47026.1	.	.	.	.	.	.	.	.	.	.	C	37	6.634735	0.97722	2.78E-4	0.0	ENSG00000048342	ENST00000424120;ENST00000413206;ENST00000426932;ENST00000510333;ENST00000503292;ENST00000389652	.	.	.	5.37	5.37	0.77165	.	0.324747	0.29486	N	0.012013	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.05833	T	0.94	.	19.1238	0.93374	0.0:1.0:0.0:0.0	.	.	.	.	X	950;950;901;901;950;901	.	ENSP00000374303:R901X	R	+	1	2	CC2D2A	15169904	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.021000	0.64072	2.522000	0.85027	0.650000	0.86243	CGA		CC2D2A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359906.2	NM_001080522	
DKK2	27123	hgsc.bcm.edu	37	4	107845227	107845227	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr4:107845227A>G	ENST00000285311.3	-	4	1369	c.664T>C	c.(664-666)Tct>Cct	p.S222P	DKK2_ENST00000513208.1_Missense_Mutation_p.S122P|DKK2_ENST00000510463.1_Missense_Mutation_p.S176P	NM_014421.2	NP_055236.1	Q9UBU2	DKK2_HUMAN	dickkopf WNT signaling pathway inhibitor 2	222	DKK-type Cys-2.				multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|Wnt signaling pathway (GO:0016055)	extracellular space (GO:0005615)				autonomic_ganglia(1)|breast(1)|endometrium(2)|large_intestine(7)|lung(10)|ovary(3)|pancreas(1)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	32		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;6.34e-06)		AGCCCATGAGAACCCTTCTTG	0.502																																																	0			4											169.0	154.0	159.0					4																	107845227		2203	4300	6503	108064676	SO:0001583	missense	27123			AB033208	CCDS3675.1	4q25	2013-05-15	2013-05-15		ENSG00000155011	ENSG00000155011			2892	protein-coding gene	gene with protein product		605415	"""dickkopf (Xenopus laevis) homolog 2"", ""dickkopf 2 homolog (Xenopus laevis)"""			10570958	Standard	NM_014421		Approved		uc003hyi.3	Q9UBU2	OTTHUMG00000131216	ENST00000285311.3:c.664T>C	4.37:g.107845227A>G	ENSP00000285311:p.Ser222Pro	Somatic		Capture	Illumina HiSeq	Phase_I	108064676	A0AVE9|B2R6S7|Q9UIU3	Missense_Mutation	SNP	ENST00000285311.3	37	CCDS3675.1	.	.	.	.	.	.	.	.	.	.	A	20.8	4.042941	0.75732	.	.	ENSG00000155011	ENST00000285311;ENST00000513208;ENST00000510463	T;T;T	0.48522	0.81;0.86;0.83	5.64	4.43	0.53597	.	0.107163	0.64402	D	0.000004	T	0.42988	0.1227	L	0.59436	1.845	0.49213	D	0.999763	P	0.45348	0.856	B	0.37346	0.247	T	0.45011	-0.9290	10	0.66056	D	0.02	-15.1533	12.7558	0.57335	0.8626:0.1374:0.0:0.0	.	222	Q9UBU2	DKK2_HUMAN	P	222;122;176	ENSP00000285311:S222P;ENSP00000421255:S122P;ENSP00000423797:S176P	ENSP00000285311:S222P	S	-	1	0	DKK2	108064676	1.000000	0.71417	0.878000	0.34440	0.994000	0.84299	2.066000	0.41452	0.937000	0.37394	0.477000	0.44152	TCT		DKK2-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253959.4		
KIAA1109	84162	hgsc.bcm.edu	37	4	123118413	123118413	+	Missense_Mutation	SNP	G	G	A			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr4:123118413G>A	ENST00000264501.4	+	13	1645	c.1272G>A	c.(1270-1272)atG>atA	p.M424I	KIAA1109_ENST00000495260.1_3'UTR|KIAA1109_ENST00000455637.1_Missense_Mutation_p.M424I|KIAA1109_ENST00000388738.3_Missense_Mutation_p.M424I			Q2LD37	K1109_HUMAN	KIAA1109	424					regulation of cell growth (GO:0001558)|regulation of epithelial cell differentiation (GO:0030856)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)				breast(7)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(6)|large_intestine(33)|liver(4)|lung(74)|ovary(9)|pancreas(1)|prostate(5)|skin(6)|upper_aerodigestive_tract(6)|urinary_tract(3)	172						ATATTCCAATGACAGTTGAAG	0.249																																																	0			4											40.0	42.0	41.0					4																	123118413		1784	4015	5799	123337863	SO:0001583	missense	84162			AL137384	CCDS43267.1	4q28.1	2012-07-09			ENSG00000138688	ENSG00000138688			26953	protein-coding gene	gene with protein product	"""fragile site-associated"""	611565				16386706	Standard	NM_015312		Approved	FLJ21404, FSA, KIAA1371, Tweek	uc003ieh.3	Q2LD37	OTTHUMG00000150116	ENST00000264501.4:c.1272G>A	4.37:g.123118413G>A	ENSP00000264501:p.Met424Ile	Somatic		Capture	Illumina HiSeq	Phase_I	123337863	Q4W598|Q5CZA9|Q6ZS70|Q6ZV75|Q86XA5|Q8WVD8|Q9H742|Q9NT48|Q9NTC3|Q9NTI4|Q9P2H6|Q9UPP3	Missense_Mutation	SNP	ENST00000264501.4	37	CCDS43267.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	21.0|21.0	4.078497|4.078497	0.76528|0.76528	.|.	.|.	ENSG00000138688|ENSG00000138688	ENST00000424425|ENST00000264501;ENST00000388738;ENST00000455637	.|D;D;D	.|0.93906	.|-3.31;-3.31;-3.31	5.66|5.66	5.66|5.66	0.87406|0.87406	.|.	.|1592.350000	.|0.00166	.|N	.|0.000000	D|D	0.96275|0.96275	0.8785|0.8785	L|L	0.43152|0.43152	1.355|1.355	0.58432|0.58432	D|D	0.999999|0.999999	.|P	.|0.50528	.|0.936	.|P	.|0.61201	.|0.885	D|D	0.85531|0.85531	0.1209|0.1209	5|10	.|0.54805	.|T	.|0.06	.|.	19.7617|19.7617	0.96321|0.96321	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|424	.|Q2LD37	.|K1109_HUMAN	N|I	257|424	.|ENSP00000264501:M424I;ENSP00000373390:M424I;ENSP00000389925:M424I	.|ENSP00000264501:M424I	D|M	+|+	1|3	0|0	KIAA1109|KIAA1109	123337863|123337863	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.999000|0.999000	0.98932|0.98932	7.591000|7.591000	0.82666|0.82666	2.671000|2.671000	0.90904|0.90904	0.655000|0.655000	0.94253|0.94253	GAC|ATG		KIAA1109-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316415.1	NM_020797	
INTU	27152	hgsc.bcm.edu	37	4	128565122	128565122	+	Missense_Mutation	SNP	G	G	T			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr4:128565122G>T	ENST00000335251.6	+	2	696	c.593G>T	c.(592-594)aGa>aTa	p.R198I	INTU_ENST00000296461.5_Missense_Mutation_p.R198I	NM_015693.3	NP_056508.2	Q9ULD6	INTU_HUMAN	inturned planar cell polarity protein	198	PDZ. {ECO:0000255|PROSITE- ProRule:PRU00143}.				cilium assembly (GO:0042384)|hair follicle morphogenesis (GO:0031069)|keratinocyte differentiation (GO:0030216)|limb development (GO:0060173)|negative regulation of cell division (GO:0051782)|negative regulation of keratinocyte proliferation (GO:0010839)|nervous system development (GO:0007399)|positive regulation of smoothened signaling pathway (GO:0045880)|regulation of smoothened signaling pathway (GO:0008589)|spinal cord dorsal/ventral patterning (GO:0021513)	cytoplasm (GO:0005737)				breast(3)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	43						AGCTGGAGAAGAACCGGAAAG	0.498																																																	0			4											140.0	135.0	137.0					4																	128565122		2203	4300	6503	128784572	SO:0001583	missense	27152			BC051698	CCDS34061.1	4q28.2	2013-03-05	2013-03-05	2006-10-24	ENSG00000164066	ENSG00000164066			29239	protein-coding gene	gene with protein product		610621	"""PDZ domain containing 6"", ""inturned planar cell polarity effector homolog (Drosophila)"""	PDZK6, PDZD6		10574462, 21761479	Standard	NM_015693		Approved	KIAA1284	uc003ifk.2	Q9ULD6	OTTHUMG00000161202	ENST00000335251.6:c.593G>T	4.37:g.128565122G>T	ENSP00000334003:p.Arg198Ile	Somatic		Capture	Illumina HiSeq	Phase_I	128784572	A1L4N5|D6RAE6|D6RBT4|Q4W5I8|Q86V55	Missense_Mutation	SNP	ENST00000335251.6	37	CCDS34061.1	.	.	.	.	.	.	.	.	.	.	G	14.66	2.601199	0.46423	.	.	ENSG00000164066	ENST00000504491;ENST00000335251;ENST00000296461	T	0.47528	0.84	4.8	3.01	0.34805	PDZ/DHR/GLGF (2);	0.319549	0.34156	N	0.004218	T	0.40546	0.1121	L	0.47716	1.5	0.51767	D	0.99993	B	0.33919	0.432	B	0.35550	0.205	T	0.34104	-0.9842	10	0.66056	D	0.02	-13.1171	9.7754	0.40616	0.1729:0.0:0.8271:0.0	.	198	Q9ULD6	PDZD6_HUMAN	I	179;198;198	ENSP00000296461:R198I	ENSP00000296461:R198I	R	+	2	0	INTU	128784572	1.000000	0.71417	0.766000	0.31476	0.893000	0.52053	2.309000	0.43699	0.685000	0.31468	0.655000	0.94253	AGA		INTU-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364147.2	XM_371707	
SCLT1	132320	hgsc.bcm.edu	37	4	129960213	129960213	+	Silent	SNP	G	G	A			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr4:129960213G>A	ENST00000281142.5	-	5	776	c.273C>T	c.(271-273)gtC>gtT	p.V91V	SCLT1_ENST00000434680.1_Silent_p.V91V|SCLT1_ENST00000503215.1_Silent_p.V68V|SCLT1_ENST00000506368.1_Silent_p.V91V|SCLT1_ENST00000439369.2_Silent_p.V91V	NM_144643.2	NP_653244.2	Q96NL6	SCLT1_HUMAN	sodium channel and clathrin linker 1	91					cilium assembly (GO:0042384)|clustering of voltage-gated sodium channels (GO:0045162)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|clathrin complex (GO:0071439)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule cytoskeleton (GO:0015630)	sodium channel regulator activity (GO:0017080)			central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|ovary(3)|prostate(1)|skin(1)|stomach(1)	29						TTTCCTTGATGACATTTTCAA	0.279																																																	0			4											54.0	52.0	53.0					4																	129960213		2199	4297	6496	130179663	SO:0001819	synonymous_variant	132320			AK055217	CCDS3740.1	4q28.2	2008-05-02			ENSG00000151466	ENSG00000151466			26406	protein-coding gene	gene with protein product		611399				15797711	Standard	XM_005262732		Approved	hCAP-1A, FLJ30655	uc003igp.2	Q96NL6	OTTHUMG00000133346	ENST00000281142.5:c.273C>T	4.37:g.129960213G>A		Somatic		Capture	Illumina HiSeq	Phase_I	130179663	A4QN04|Q0VAH2|Q6P2M4	Silent	SNP	ENST00000281142.5	37	CCDS3740.1																																																																																				SCLT1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257176.2	NM_144643	
VEGFC	7424	hgsc.bcm.edu	37	4	177608450	177608450	+	Missense_Mutation	SNP	T	T	C			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr4:177608450T>C	ENST00000280193.2	-	6	1451	c.1036A>G	c.(1036-1038)Acc>Gcc	p.T346A	VEGFC_ENST00000507638.1_5'Flank|RP11-313E19.2_ENST00000504017.1_RNA|RP11-313E19.2_ENST00000509194.1_RNA	NM_005429.2	NP_005420	P49767	VEGFC_HUMAN	vascular endothelial growth factor C	346	4 X 16 AA repeats of C-X(10)-C-X-C- X(1,3)-C.				angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|induction of positive chemotaxis (GO:0050930)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of blood pressure (GO:0045776)|negative regulation of cell proliferation (GO:0008285)|organ morphogenesis (GO:0009887)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive chemotaxis (GO:0050918)|positive regulation of angiogenesis (GO:0045766)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of lymphangiogenesis (GO:1901492)|positive regulation of mast cell chemotaxis (GO:0060754)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein autophosphorylation (GO:0031954)|positive regulation of protein secretion (GO:0050714)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)|response to drug (GO:0042493)|signal transduction (GO:0007165)|substrate-dependent cell migration (GO:0006929)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)|platelet alpha granule lumen (GO:0031093)	chemoattractant activity (GO:0042056)	p.T346P(1)		biliary_tract(1)|cervix(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(2)|skin(2)	41		Breast(14;0.000223)|Renal(120;0.00988)|Prostate(90;0.00996)|Melanoma(52;0.0101)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;1.59e-18)|Epithelial(43;3.68e-16)|OV - Ovarian serous cystadenocarcinoma(60;8.52e-09)|GBM - Glioblastoma multiforme(59;0.000546)|STAD - Stomach adenocarcinoma(60;0.00308)|Colorectal(24;0.025)|COAD - Colon adenocarcinoma(29;0.0359)|LUSC - Lung squamous cell carcinoma(193;0.0397)		CTGGGGCAGGTTCTTTTACAT	0.433																																																	1	Substitution - Missense(1)	lung(1)	4											263.0	234.0	243.0					4																	177608450		1848	4101	5949	177845444	SO:0001583	missense	7424			BC035212	CCDS43285.1	4q34.3	2013-02-18				ENSG00000150630			12682	protein-coding gene	gene with protein product	"""vascular endothelial growth factor-related protein"""	601528				8617204	Standard	NM_005429		Approved	VRP	uc003ius.1	P49767		ENST00000280193.2:c.1036A>G	4.37:g.177608450T>C	ENSP00000280193:p.Thr346Ala	Somatic		Capture	Illumina HiSeq	Phase_I	177845444	B2R9Q8	Missense_Mutation	SNP	ENST00000280193.2	37	CCDS43285.1	.	.	.	.	.	.	.	.	.	.	T	10.73	1.433771	0.25813	.	.	ENSG00000150630	ENST00000280193	.	.	.	5.61	3.22	0.36961	.	0.184991	0.46442	N	0.000282	T	0.32406	0.0828	N	0.25647	0.755	0.36387	D	0.862262	B	0.12630	0.006	B	0.09377	0.004	T	0.18053	-1.0349	9	0.23302	T	0.38	-6.1851	4.8551	0.13555	0.1375:0.1458:0.0:0.7168	.	346	P49767	VEGFC_HUMAN	A	346	.	ENSP00000280193:T346A	T	-	1	0	VEGFC	177845444	0.920000	0.31207	0.996000	0.52242	0.924000	0.55760	1.379000	0.34340	0.954000	0.37851	0.528000	0.53228	ACC		VEGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361991.1	NM_005429	
SOX11	6664	hgsc.bcm.edu	37	2	5834045	5834045	+	Missense_Mutation	SNP	G	G	T			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr2:5834045G>T	ENST00000322002.3	+	1	1247	c.1192G>T	c.(1192-1194)Gat>Tat	p.D398Y	AC108025.2_ENST00000420221.1_RNA|AC107057.2_ENST00000458264.1_RNA|AC108025.2_ENST00000453678.1_RNA|AC010729.1_ENST00000455579.2_RNA	NM_003108.3	NP_003099.1	P35716	SOX11_HUMAN	SRY (sex determining region Y)-box 11	398					cardiac ventricle formation (GO:0003211)|closure of optic fissure (GO:0061386)|cornea development in camera-type eye (GO:0061303)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic skeletal system morphogenesis (GO:0048704)|eyelid development in camera-type eye (GO:0061029)|glial cell development (GO:0021782)|glial cell proliferation (GO:0014009)|hard palate development (GO:0060022)|kidney development (GO:0001822)|lens morphogenesis in camera-type eye (GO:0002089)|limb bud formation (GO:0060174)|lung morphogenesis (GO:0060425)|negative regulation of cell death (GO:0060548)|negative regulation of gene expression (GO:0010629)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of lymphocyte proliferation (GO:0050672)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription regulatory region DNA binding (GO:2000678)|neural crest cell development (GO:0014032)|neural tube formation (GO:0001841)|neuroepithelial cell differentiation (GO:0060563)|neuron differentiation (GO:0030182)|noradrenergic neuron differentiation (GO:0003357)|oligodendrocyte development (GO:0014003)|outflow tract morphogenesis (GO:0003151)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of hippo signaling (GO:0035332)|positive regulation of hormone secretion (GO:0046887)|positive regulation of lens epithelial cell proliferation (GO:2001111)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of ossification (GO:0045778)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of stem cell proliferation (GO:2000648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|signal transduction involved in cell cycle checkpoint (GO:0072395)|skeletal muscle cell differentiation (GO:0035914)|skeletal system development (GO:0001501)|soft palate development (GO:0060023)|somite development (GO:0061053)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|translation (GO:0006412)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	enhancer sequence-specific DNA binding (GO:0001158)|nucleic acid binding transcription factor activity (GO:0001071)|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 coactivator activity (GO:0001105)|transcription regulatory region sequence-specific DNA binding (GO:0000976)|translation factor activity, nucleic acid binding (GO:0008135)			central_nervous_system(5)|cervix(1)|endometrium(1)|liver(1)|lung(4)|stomach(1)	13	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.191)			OV - Ovarian serous cystadenocarcinoma(76;0.132)		GGTGGATAAGGATTTGGATTC	0.652																																																	0			2											17.0	13.0	14.0					2																	5834045		1902	3645	5547	5751496	SO:0001583	missense	6664				CCDS1654.1	2p25	2008-05-21			ENSG00000176887	ENSG00000176887		"""SRY (sex determining region Y)-boxes"""	11191	protein-coding gene	gene with protein product	"""SRY-related HMG-box gene 11"""	600898				8666406, 12637543	Standard	NM_003108		Approved		uc002qyj.3	P35716	OTTHUMG00000090333	ENST00000322002.3:c.1192G>T	2.37:g.5834045G>T	ENSP00000322568:p.Asp398Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	5751496	Q4ZFV8	Missense_Mutation	SNP	ENST00000322002.3	37	CCDS1654.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.992915	0.74703	.	.	ENSG00000176887	ENST00000322002	D	0.99382	-5.8	4.91	4.91	0.64330	.	0.000000	0.64402	U	0.000001	D	0.99387	0.9784	M	0.84683	2.71	0.80722	D	1	D	0.76494	0.999	D	0.64042	0.921	D	0.98832	1.0751	10	0.87932	D	0	.	18.0824	0.89445	0.0:0.0:1.0:0.0	.	398	P35716	SOX11_HUMAN	Y	398	ENSP00000322568:D398Y	ENSP00000322568:D398Y	D	+	1	0	SOX11	5751496	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.514000	0.98013	2.276000	0.75962	0.561000	0.74099	GAT		SOX11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206698.1	NM_003108	
OXER1	165140	hgsc.bcm.edu	37	2	42990512	42990512	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr2:42990512A>G	ENST00000378661.2	-	1	889	c.808T>C	c.(808-810)Ttt>Ctt	p.F270L		NM_148962.4	NP_683765.1	Q8TDS5	OXER1_HUMAN	oxoeicosanoid (OXE) receptor 1	270					G-protein coupled receptor signaling pathway (GO:0007186)|regulation of cAMP biosynthetic process (GO:0030817)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	5(S)-hydroxyperoxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050648)|5-hydroxy-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050647)|5-oxo-6E,8Z,11Z,14Z-icosatetraenoic acid binding (GO:0050646)|G-protein coupled receptor activity (GO:0004930)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)	10						ACAATAGCAAAGAGGATGAGC	0.657																																																	0			2											17.0	18.0	18.0					2																	42990512		2202	4299	6501	42844016	SO:0001583	missense	165140			AB083055	CCDS1810.1	2p22.1	2012-08-10			ENSG00000162881	ENSG00000162881		"""GPCR / Class A : Leukotriene receptors"""	24884	protein-coding gene	gene with protein product	"""5-oxo-ETE acid G-protein-coupled receptor 1"""					12065583, 15001665	Standard	NM_148962		Approved	GPCR, TG1019, GPR170	uc002rss.3	Q8TDS5	OTTHUMG00000128643	ENST00000378661.2:c.808T>C	2.37:g.42990512A>G	ENSP00000367930:p.Phe270Leu	Somatic		Capture	Illumina HiSeq	Phase_I	42844016	Q86WP7|Q8NGW4	Missense_Mutation	SNP	ENST00000378661.2	37	CCDS1810.1	.	.	.	.	.	.	.	.	.	.	A	19.03	3.746994	0.69418	.	.	ENSG00000162881	ENST00000378661	T	0.37584	1.19	4.32	3.12	0.35913	GPCR, rhodopsin-like superfamily (1);	0.090176	0.44285	U	0.000464	T	0.47135	0.1429	L	0.52011	1.625	0.32714	N	0.511164	D	0.71674	0.998	D	0.70227	0.968	T	0.53704	-0.8401	10	0.25751	T	0.34	.	9.0718	0.36497	0.814:0.186:0.0:0.0	.	270	Q8TDS5	OXER1_HUMAN	L	270	ENSP00000367930:F270L	ENSP00000367930:F270L	F	-	1	0	OXER1	42844016	0.000000	0.05858	0.130000	0.21974	0.005000	0.04900	0.567000	0.23608	0.504000	0.28082	0.454000	0.30748	TTT		OXER1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250514.1	NM_148962	
SLC9A2	6549	hgsc.bcm.edu	37	2	103274046	103274046	+	Missense_Mutation	SNP	C	C	T			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr2:103274046C>T	ENST00000233969.2	+	2	455	c.313C>T	c.(313-315)Ccc>Tcc	p.P105S		NM_003048.3	NP_003039.2	Q9UBY0	SL9A2_HUMAN	solute carrier family 9, subfamily A (NHE2, cation proton antiporter 2), member 2	105					ion transport (GO:0006811)|protein localization (GO:0008104)|regulation of pH (GO:0006885)|sodium ion transmembrane transport (GO:0035725)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)			breast(5)|central_nervous_system(3)|endometrium(3)|kidney(1)|large_intestine(3)|lung(17)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						TCACAAGTTGCCCACAATAGT	0.423																																																	0			2											76.0	72.0	74.0					2																	103274046		2203	4300	6503	102640478	SO:0001583	missense	6549				CCDS2062.1	2q11.2	2013-05-22	2012-03-22		ENSG00000115616	ENSG00000115616		"""Solute carriers"""	11072	protein-coding gene	gene with protein product		600530	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 2"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 2"""	NHE2			Standard	NM_003048		Approved		uc002tca.3	Q9UBY0	OTTHUMG00000130778	ENST00000233969.2:c.313C>T	2.37:g.103274046C>T	ENSP00000233969:p.Pro105Ser	Somatic		Capture	Illumina HiSeq	Phase_I	102640478	B2RMS2	Missense_Mutation	SNP	ENST00000233969.2	37	CCDS2062.1	.	.	.	.	.	.	.	.	.	.	C	12.24	1.878250	0.33162	.	.	ENSG00000115616	ENST00000233969	T	0.14391	2.51	5.73	5.73	0.89815	Cation/H+ exchanger (1);	0.049070	0.85682	D	0.000000	T	0.11367	0.0277	N	0.17800	0.525	0.49483	D	0.999793	P	0.36086	0.536	B	0.39660	0.306	T	0.02417	-1.1162	10	0.02654	T	1	.	20.27	0.98469	0.0:1.0:0.0:0.0	.	105	Q9UBY0	SL9A2_HUMAN	S	105	ENSP00000233969:P105S	ENSP00000233969:P105S	P	+	1	0	SLC9A2	102640478	1.000000	0.71417	0.994000	0.49952	0.962000	0.63368	3.403000	0.52615	2.854000	0.98071	0.655000	0.94253	CCC		SLC9A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253292.2		
ZEB2	9839	hgsc.bcm.edu	37	2	145161614	145161614	+	Silent	SNP	G	G	A			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr2:145161614G>A	ENST00000558170.2	-	6	1860	c.676C>T	c.(676-678)Ctg>Ttg	p.L226L	ZEB2_ENST00000303660.4_Silent_p.L226L|ZEB2_ENST00000539609.3_Silent_p.L202L|ZEB2_ENST00000409487.3_Silent_p.L226L	NM_014795.3	NP_055610.1	O60315	ZEB2_HUMAN	zinc finger E-box binding homeobox 2	226					cell proliferation in forebrain (GO:0021846)|developmental pigmentation (GO:0048066)|hippocampus development (GO:0021766)|melanocyte migration (GO:0097324)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|neural tube closure (GO:0001843)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of melanin biosynthetic process (GO:0048023)|positive regulation of melanocyte differentiation (GO:0045636)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of melanosome organization (GO:1903056)|somitogenesis (GO:0001756)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|phosphatase regulator activity (GO:0019208)			breast(3)|central_nervous_system(1)|cervix(2)|endometrium(7)|kidney(6)|large_intestine(23)|lung(45)|ovary(5)|pancreas(2)|prostate(6)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	107				BRCA - Breast invasive adenocarcinoma(221;0.112)		TGCTCCTTCAGTGATGTCAAG	0.567																																					Melanoma(33;1235 1264 5755 16332)												0			2											196.0	180.0	185.0					2																	145161614		2203	4300	6503	144878084	SO:0001819	synonymous_variant	9839			AB011141	CCDS2186.1, CCDS54403.1	2q22.3	2013-01-08	2007-02-15	2007-02-15	ENSG00000169554	ENSG00000169554		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	14881	protein-coding gene	gene with protein product	"""SMAD interacting protein 1"""	605802	"""zinc finger homeobox 1b"""	ZFHX1B			Standard	NM_014795		Approved	KIAA0569, SIP-1, SIP1	uc002tvu.3	O60315	OTTHUMG00000131834	ENST00000558170.2:c.676C>T	2.37:g.145161614G>A		Somatic		Capture	Illumina HiSeq	Phase_I	144878084	A0JP09|B7Z2P2|F5H814|Q9UED1	Silent	SNP	ENST00000558170.2	37	CCDS2186.1																																																																																				ZEB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254778.5	NM_014795	
TTN	7273	hgsc.bcm.edu	37	2	179429590	179429590	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr2:179429590A>G	ENST00000591111.1	-	276	76570	c.76346T>C	c.(76345-76347)cTt>cCt	p.L25449P	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.L18150P|TTN_ENST00000460472.2_Missense_Mutation_p.L18025P|TTN_ENST00000342992.6_Missense_Mutation_p.L24522P|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.L18217P|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.L27090P|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA			Q8WZ42	TITIN_HUMAN	titin	25449	Fibronectin type-III 85. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CCATTGCACAAGCATCTGATC	0.398																																																	0			2											67.0	63.0	64.0					2																	179429590		1879	4115	5994	179137836	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.76346T>C	2.37:g.179429590A>G	ENSP00000465570:p.Leu25449Pro	Somatic		Capture	Illumina HiSeq	Phase_I	179137836	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	Silent	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	A	9.641	1.139091	0.21205	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58060	0.36;0.36;0.36;0.36	6.02	6.02	0.97574	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.60353	0.2262	L	0.46157	1.445	0.58432	D	0.999996	P;P;P;P	0.36599	0.484;0.484;0.484;0.56	B;B;P;P	0.47786	0.22;0.22;0.557;0.447	T	0.62515	-0.6838	9	0.87932	D	0	.	16.542	0.84395	1.0:0.0:0.0:0.0	.	18025;18150;18217;25449	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	P	24522;18025;18217;18150;18023	ENSP00000343764:L24522P;ENSP00000434586:L18025P;ENSP00000340554:L18217P;ENSP00000352154:L18150P	ENSP00000340554:L18217P	L	-	2	0	TTN	179137836	1.000000	0.71417	0.976000	0.42696	0.952000	0.60782	5.302000	0.65733	2.304000	0.77564	0.528000	0.53228	CTT		TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	hgsc.bcm.edu	37	2	179452695	179452695	+	Missense_Mutation	SNP	C	C	T	rs72646853	byFrequency	TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr2:179452695C>T	ENST00000591111.1	-	255	58740	c.58516G>A	c.(58516-58518)Gcc>Acc	p.A19506T	TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000589907.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.A12207T|TTN_ENST00000460472.2_Missense_Mutation_p.A12082T|TTN_ENST00000342992.6_Missense_Mutation_p.A18579T|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.A12274T|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.A21147T|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590743.1_RNA			Q8WZ42	TITIN_HUMAN	titin	19506	Fibronectin type-III 41. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGTTTTGGGCACACACCCTG	0.458													C|||	4	0.000798722	0.0	0.0	5008	,	,		20578	0.0		0.0	False		,,,				2504	0.0041																0			2						C	THR/ALA,THR/ALA,THR/ALA,THR/ALA	0,3834		0,0,1917	58.0	56.0	57.0		36244,55735,36619,36820	5.8	1.0	2	dbSNP_130	57	1,8233		0,1,4116	yes	missense,missense,missense,missense	TTN	NM_003319.4,NM_133378.4,NM_133432.3,NM_133437.3	58,58,58,58	0,1,6033	TT,TC,CC		0.0121,0.0,0.0083	probably-damaging,probably-damaging,probably-damaging,probably-damaging	12082/26927,18579/33424,12207/27052,12274/27119	179452695	1,12067	1917	4117	6034	179160941	SO:0001583	missense	7273			X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.58516G>A	2.37:g.179452695C>T	ENSP00000465570:p.Ala19506Thr	Somatic		Capture	Illumina HiSeq	Phase_I	179160941	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	Silent	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	16.17	3.047746	0.55110	0.0	1.21E-4	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.69926	-0.44;-0.44;-0.44;-0.44	5.78	5.78	0.91487	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	D	0.88890	0.6560	H	0.96833	3.89	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.999;0.999;0.999;0.999	D	0.91913	0.5541	9	0.87932	D	0	.	20.0204	0.97499	0.0:1.0:0.0:0.0	.	12082;12207;12274;19506	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	T	18579;12082;12274;12207;12080	ENSP00000343764:A18579T;ENSP00000434586:A12082T;ENSP00000340554:A12274T;ENSP00000352154:A12207T	ENSP00000340554:A12274T	A	-	1	0	TTN	179160941	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.770000	0.85390	2.729000	0.93468	0.650000	0.86243	GCC		TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
ZNF804A	91752	hgsc.bcm.edu	37	2	185803696	185803696	+	Silent	SNP	C	C	A			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr2:185803696C>A	ENST00000302277.6	+	4	4167	c.3573C>A	c.(3571-3573)ctC>ctA	p.L1191L		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	1191							metal ion binding (GO:0046872)			NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CCCATGCACTCTTTCCTTCAC	0.458																																																	0			2											290.0	253.0	266.0					2																	185803696		2203	4300	6503	185511941	SO:0001819	synonymous_variant	91752			AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.3573C>A	2.37:g.185803696C>A		Somatic		Capture	Illumina HiSeq	Phase_I	185511941	A7E253|Q6ZN26	Silent	SNP	ENST00000302277.6	37	CCDS2291.1																																																																																				ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250	
PIKFYVE	200576	hgsc.bcm.edu	37	2	209163420	209163420	+	Missense_Mutation	SNP	T	T	C			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr2:209163420T>C	ENST00000264380.4	+	8	1125	c.967T>C	c.(967-969)Tca>Cca	p.S323P	PIKFYVE_ENST00000308862.6_Missense_Mutation_p.S237P|PIKFYVE_ENST00000392202.3_Missense_Mutation_p.S226P|PIKFYVE_ENST00000407449.1_Missense_Mutation_p.S323P	NM_015040.3	NP_055855.2	Q9Y2I7	FYV1_HUMAN	phosphoinositide kinase, FYVE finger containing	323					cellular protein metabolic process (GO:0044267)|intracellular signal transduction (GO:0035556)|myelin assembly (GO:0032288)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol phosphorylation (GO:0046854)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phospholipid metabolic process (GO:0006644)|protein localization to nucleus (GO:0034504)|retrograde transport, endosome to Golgi (GO:0042147)|small molecule metabolic process (GO:0044281)	cell-cell junction (GO:0005911)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|early endosome membrane (GO:0031901)|endosome membrane (GO:0010008)|Golgi membrane (GO:0000139)|late endosome membrane (GO:0031902)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|vesicle membrane (GO:0012506)	1-phosphatidylinositol-3-phosphate 5-kinase activity (GO:0000285)|1-phosphatidylinositol-4-phosphate 5-kinase activity (GO:0016308)|ATP binding (GO:0005524)|phosphatidylinositol-3,5-bisphosphate 5-phosphatase activity (GO:0043813)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|central_nervous_system(1)|endometrium(14)|kidney(6)|large_intestine(25)|lung(40)|ovary(7)|pancreas(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	107						TATGGTACCTTCATATGAGAC	0.423																																																	0			2											139.0	118.0	125.0					2																	209163420		2203	4300	6503	208871665	SO:0001583	missense	200576			AB023198	CCDS2382.1, CCDS33368.1, CCDS54431.1	2q34	2014-01-15	2009-04-17	2009-04-17	ENSG00000115020	ENSG00000115020		"""Zinc fingers, FYVE domain containing"""	23785	protein-coding gene	gene with protein product	"""zinc finger, FYVE domain containing 29"""	609414	"""phosphatidylinositol-3-phosphate/phosphatidylinositol 5-kinase, type III"""	PIP5K3		9858586, 12270933	Standard	NM_015040		Approved	MGC40423, KIAA0981, PIKfyve, PIP5K, p235, ZFYVE29, FAB1	uc002vcz.3	Q9Y2I7	OTTHUMG00000132945	ENST00000264380.4:c.967T>C	2.37:g.209163420T>C	ENSP00000264380:p.Ser323Pro	Somatic		Capture	Illumina HiSeq	Phase_I	208871665	Q08AR7|Q08AR8|Q53ST3|Q53T36|Q8N5H0|Q8NB67	Missense_Mutation	SNP	ENST00000264380.4	37	CCDS2382.1	.	.	.	.	.	.	.	.	.	.	T	14.22	2.471816	0.43942	.	.	ENSG00000115020	ENST00000392202;ENST00000264380;ENST00000407449;ENST00000308862;ENST00000452564	T;T;T	0.70516	1.26;-0.49;1.39	5.53	3.14	0.36123	.	0.075049	0.56097	D	0.000038	T	0.40171	0.1106	N	0.03608	-0.345	0.44927	D	0.997945	B;B;B;B;B	0.12630	0.006;0.002;0.002;0.0;0.005	B;B;B;B;B	0.12156	0.006;0.004;0.005;0.0;0.007	T	0.17806	-1.0357	10	0.37606	T	0.19	-12.0254	2.2328	0.04001	0.1306:0.1338:0.1361:0.5995	.	323;323;237;323;226	Q9Y2I7;E9PDH4;Q9Y2I7-3;Q08AR7;Q9Y2I7-2	FYV1_HUMAN;.;.;.;.	P	226;323;323;237;323	ENSP00000264380:S323P;ENSP00000384356:S323P;ENSP00000405736:S323P	ENSP00000264380:S323P	S	+	1	0	PIKFYVE	208871665	0.995000	0.38212	0.994000	0.49952	0.991000	0.79684	0.512000	0.22755	1.013000	0.39391	-0.309000	0.09137	TCA		PIKFYVE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256477.2	NM_015040	
GDA	9615	hgsc.bcm.edu	37	9	74860096	74860096	+	Nonsense_Mutation	SNP	G	G	T			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr9:74860096G>T	ENST00000358399.3	+	12	1261	c.1168G>T	c.(1168-1170)Gaa>Taa	p.E390*	GDA_ENST00000238018.4_Nonsense_Mutation_p.E390*|GDA_ENST00000376986.1_Nonsense_Mutation_p.E312*|GDA_ENST00000545168.1_Nonsense_Mutation_p.E316*|GDA_ENST00000376989.3_Nonsense_Mutation_p.E329*	NM_001242505.2|NM_001242506.2|NM_004293.4	NP_001229434.1|NP_001229435.1|NP_004284.1	Q9Y2T3	GUAD_HUMAN	guanine deaminase	390					guanine catabolic process (GO:0006147)|nervous system development (GO:0007399)|nucleobase-containing compound metabolic process (GO:0006139)|nucleobase-containing small molecule metabolic process (GO:0055086)|purine nucleobase metabolic process (GO:0006144)|purine nucleotide catabolic process (GO:0006195)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)	guanine deaminase activity (GO:0008892)|zinc ion binding (GO:0008270)	p.E390K(1)		central_nervous_system(4)|endometrium(1)|kidney(1)|large_intestine(1)|lung(20)|ovary(2)|skin(2)|urinary_tract(1)	32		Myeloproliferative disorder(762;0.0122)		Lung(182;0.0583)		TGGAAACTTTGAAGTGGGCAA	0.448																																																	1	Substitution - Missense(1)	ovary(1)	9											208.0	203.0	205.0					9																	74860096		2203	4300	6503	74049916	SO:0001587	stop_gained	9615			AF095286	CCDS6641.1, CCDS56576.1, CCDS56577.1	9q21.13	2008-05-14			ENSG00000119125	ENSG00000119125			4212	protein-coding gene	gene with protein product		139260				10075721, 3966794	Standard	NM_001242507		Approved		uc004air.3	Q9Y2T3	OTTHUMG00000020005	ENST00000358399.3:c.1168G>T	9.37:g.74860096G>T	ENSP00000351170:p.Glu390*	Somatic		Capture	Illumina HiSeq	Phase_I	74049916	B4DTY5|Q5SZC7|Q9H335|Q9ULG2	Nonsense_Mutation	SNP	ENST00000358399.3	37	CCDS6641.1	.	.	.	.	.	.	.	.	.	.	G	39	7.774242	0.98483	.	.	ENSG00000119125	ENST00000545168;ENST00000238018;ENST00000376989;ENST00000376986;ENST00000358399;ENST00000436438	.	.	.	5.3	5.3	0.74995	.	0.046040	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.31617	T	0.26	-13.9582	16.2414	0.82409	0.0:0.0:1.0:0.0	.	.	.	.	X	316;390;329;312;390;98	.	ENSP00000238018:E390X	E	+	1	0	GDA	74049916	1.000000	0.71417	1.000000	0.80357	0.941000	0.58515	5.831000	0.69330	2.633000	0.89246	0.650000	0.86243	GAA		GDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052633.1		
ZCCHC6	79670	hgsc.bcm.edu	37	9	88937965	88937965	+	Silent	SNP	G	G	T			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr9:88937965G>T	ENST00000375963.3	-	13	2872	c.2700C>A	c.(2698-2700)ggC>ggA	p.G900G	ZCCHC6_ENST00000375960.2_Silent_p.G777G|ZCCHC6_ENST00000375961.2_Silent_p.G900G|ZCCHC6_ENST00000469004.1_5'Flank|ZCCHC6_ENST00000277141.6_Silent_p.G189G	NM_001185059.1|NM_024617.3	NP_001171988.1|NP_078893.2	Q5VYS8	TUT7_HUMAN	zinc finger, CCHC domain containing 6	900	Glu-rich.			G -> V (in Ref. 1; CAI45944). {ECO:0000305}.	RNA 3'-end processing (GO:0031123)		poly(A) RNA binding (GO:0044822)|RNA uridylyltransferase activity (GO:0050265)|zinc ion binding (GO:0008270)	p.G900G(2)		breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(14)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	46						TAGCAGCTTCGCCTAACTCAT	0.423																																																	2	Substitution - coding silent(2)	ovary(1)|endometrium(1)	9											173.0	147.0	156.0					9																	88937965		2203	4300	6503	88127785	SO:0001819	synonymous_variant	79670			AL832026	CCDS35057.1, CCDS55323.1	9q21	2014-03-05			ENSG00000083223	ENSG00000083223		"""Zinc fingers, CCHC domain containing"""	25817	protein-coding gene	gene with protein product	"""TUTase7"""					11214970	Standard	NM_001185059		Approved	KIAA1711, FLJ13409, PAPD6, TUT7	uc004aoq.3	Q5VYS8	OTTHUMG00000020137	ENST00000375963.3:c.2700C>A	9.37:g.88937965G>T		Somatic		Capture	Illumina HiSeq	Phase_I	88127785	Q5H9T0|Q5VYS5|Q5VYS7|Q658Z9|Q659A2|Q6MZJ3|Q8N5F0|Q96N57|Q96NE8|Q9C0F2|Q9H8M6	Silent	SNP	ENST00000375963.3	37	CCDS35057.1																																																																																				ZCCHC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052918.1	NM_024617	
SPATA31E1	286234	hgsc.bcm.edu	37	9	90499929	90499929	+	Missense_Mutation	SNP	C	C	T	rs577973609		TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr9:90499929C>T	ENST00000325643.5	+	4	593	c.527C>T	c.(526-528)cCg>cTg	p.P176L		NM_178828.4	NP_849150.3	Q6ZUB1	S31E1_HUMAN	SPATA31 subfamily E, member 1	176	Pro-rich.				cell differentiation (GO:0030154)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)											GCCCACCAGCCGCATGGGAAA	0.642													.|||	1	0.000199681	0.0008	0.0	5008	,	,		17324	0.0		0.0	False		,,,				2504	0.0																0			9											65.0	68.0	67.0					9																	90499929		2203	4300	6503	89689749	SO:0001583	missense	286234			AK093185	CCDS6676.1	9q22.1-q22.2	2012-10-12	2012-10-12	2012-10-12	ENSG00000177992	ENSG00000177992			26672	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 79"", ""family with sequence similarity 75, member E1"""	C9orf79, FAM75E1			Standard	NM_178828		Approved	FLJ35866	uc004app.4	Q6ZUB1	OTTHUMG00000020157	ENST00000325643.5:c.527C>T	9.37:g.90499929C>T	ENSP00000322640:p.Pro176Leu	Somatic		Capture	Illumina HiSeq	Phase_I	89689749	B2RPB1|Q5SQC9|Q8NA41|Q8ND27	Missense_Mutation	SNP	ENST00000325643.5	37	CCDS6676.1	.	.	.	.	.	.	.	.	.	.	.	4.199	0.035719	0.08148	.	.	ENSG00000177992	ENST00000325643	T	0.03889	3.77	2.35	-1.17	0.09648	.	0.943104	0.08694	N	0.907424	T	0.02304	0.0071	N	0.19112	0.55	0.09310	N	1	P	0.38420	0.63	B	0.31946	0.138	T	0.43426	-0.9392	10	0.11794	T	0.64	.	3.8908	0.09117	0.2082:0.5116:0.0:0.2803	.	176	Q6ZUB1	CI079_HUMAN	L	176	ENSP00000322640:P176L	ENSP00000322640:P176L	P	+	2	0	C9orf79	89689749	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.704000	0.05058	-0.627000	0.05589	-1.338000	0.01255	CCG		SPATA31E1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052954.2	NM_178828	
TEX10	54881	hgsc.bcm.edu	37	9	103082640	103082640	+	Silent	SNP	T	T	C	rs557947404		TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr9:103082640T>C	ENST00000374902.4	-	11	2285	c.2109A>G	c.(2107-2109)cgA>cgG	p.R703R	TEX10_ENST00000535814.1_Silent_p.R706R	NM_017746.3	NP_060216.2	Q9NXF1	TEX10_HUMAN	testis expressed 10	703						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|MLL1 complex (GO:0071339)				NS(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(14)|ovary(1)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)	38		Acute lymphoblastic leukemia(62;0.0527)		OV - Ovarian serous cystadenocarcinoma(323;0.157)		GAGGAACTCCTCGAAGGCTCT	0.388													T|||	1	0.000199681	0.0	0.0	5008	,	,		16260	0.0		0.001	False		,,,				2504	0.0																0			9											63.0	56.0	59.0					9																	103082640		2203	4300	6503	102122461	SO:0001819	synonymous_variant	54881			AB060968	CCDS6748.1, CCDS55330.1	9q31.1	2012-05-02	2007-03-13		ENSG00000136891	ENSG00000136891			25988	protein-coding gene	gene with protein product			"""testis expressed gene 10"", ""testis expressed sequence 10"""			12477932	Standard	NM_017746		Approved	FLJ20287, bA208F1.2, Ipi1	uc004bas.3	Q9NXF1	OTTHUMG00000020366	ENST00000374902.4:c.2109A>G	9.37:g.103082640T>C		Somatic		Capture	Illumina HiSeq	Phase_I	102122461	B4DYV2|Q5T722|Q5T723|Q8NCN8|Q8TDY0	Silent	SNP	ENST00000374902.4	37	CCDS6748.1																																																																																				TEX10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053416.1	NM_017746	
GOLGA1	2800	hgsc.bcm.edu	37	9	127644214	127644214	+	Missense_Mutation	SNP	T	T	C			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr9:127644214T>C	ENST00000373555.4	-	21	2318	c.1985A>G	c.(1984-1986)gAg>gGg	p.E662G		NM_002077.3	NP_002068	Q92805	GOGA1_HUMAN	golgin A1	662					protein targeting to Golgi (GO:0000042)	Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|perinuclear region of cytoplasm (GO:0048471)|trans-Golgi network (GO:0005802)		p.E662G(1)		NS(1)|endometrium(5)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|stomach(1)	20						TTCGAAGAGCTCATTATCGGG	0.507																																																	1	Substitution - Missense(1)	ovary(1)	9											110.0	107.0	108.0					9																	127644214		2203	4300	6503	126684035	SO:0001583	missense	2800			U51587	CCDS6860.1	9q34.11	2010-02-12	2010-02-12		ENSG00000136935	ENSG00000136935			4424	protein-coding gene	gene with protein product		602502	"""golgi autoantigen, golgin subfamily a, 1"""			9324025	Standard	NM_002077		Approved	golgin-97, MGC33154	uc004bpc.3	Q92805	OTTHUMG00000020665	ENST00000373555.4:c.1985A>G	9.37:g.127644214T>C	ENSP00000362656:p.Glu662Gly	Somatic		Capture	Illumina HiSeq	Phase_I	126684035	Q5T164|Q8IYZ9	Missense_Mutation	SNP	ENST00000373555.4	37	CCDS6860.1	.	.	.	.	.	.	.	.	.	.	T	20.1	3.937736	0.73557	.	.	ENSG00000136935	ENST00000373555	T	0.27104	1.69	5.81	5.81	0.92471	.	0.142200	0.31747	N	0.007140	T	0.29190	0.0726	L	0.46157	1.445	0.58432	D	0.999997	P	0.46395	0.877	B	0.43360	0.417	T	0.03473	-1.1033	10	0.66056	D	0.02	-19.6737	15.333	0.74229	0.0:0.0:0.0:1.0	.	662	Q92805	GOGA1_HUMAN	G	662	ENSP00000362656:E662G	ENSP00000362656:E662G	E	-	2	0	GOLGA1	126684035	1.000000	0.71417	0.999000	0.59377	0.997000	0.91878	5.476000	0.66793	2.216000	0.71823	0.533000	0.62120	GAG		GOLGA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054049.1	NM_002077	
NUP214	8021	hgsc.bcm.edu	37	9	134073620	134073620	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr9:134073620A>G	ENST00000359428.5	+	29	4883	c.4739A>G	c.(4738-4740)gAg>gGg	p.E1580G	NUP214_ENST00000411637.2_Missense_Mutation_p.E1570G|NUP214_ENST00000483497.2_Missense_Mutation_p.E406G|NUP214_ENST00000451030.1_Missense_Mutation_p.E1581G			P35658	NU214_HUMAN	nucleoporin 214kDa	1580	11 X 3 AA approximate repeats.|11 X 5 AA approximate repeats.|18 X 4 AA approximate repeats.|Pro/Ser/Thr-rich.				carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|gene expression (GO:0010467)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|protein export from nucleus (GO:0006611)|protein import into nucleus (GO:0006606)|regulation of cell cycle (GO:0051726)|regulation of glucose transport (GO:0010827)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|focal adhesion (GO:0005925)|intracellular membrane-bounded organelle (GO:0043231)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	nucleocytoplasmic transporter activity (GO:0005487)|transporter activity (GO:0005215)			NS(1)|breast(9)|central_nervous_system(3)|endometrium(13)|kidney(2)|large_intestine(9)|liver(2)|lung(29)|ovary(2)|prostate(3)|skin(7)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	86	all_hematologic(7;0.0028)	Myeloproliferative disorder(178;0.204)		OV - Ovarian serous cystadenocarcinoma(145;3.42e-05)|Epithelial(140;0.000256)		GCCAGGACGGAGGCAGTACCA	0.577			T	"""DEK, SET, ABL1"""	"""AML, T-ALL"""																																Pancreas(4;24 48 25510 30394 32571)			Dom	yes		9	9q34.1	8021	nucleoporin 214kDa (CAN)		L	0			9											75.0	78.0	77.0					9																	134073620		2203	4300	6503	133063441	SO:0001583	missense	8021			X64228	CCDS6940.1	9q34	2008-07-21	2002-08-29		ENSG00000126883	ENSG00000126883			8064	protein-coding gene	gene with protein product	"""nuclear pore complex protein Nup214"", ""CAN protein, putative oncogene"""	114350	"""nucleoporin 214kD (CAIN)"""			8108440, 2370860	Standard	NM_005085		Approved	CAIN, CAN, D9S46E, N214	uc004cag.3	P35658	OTTHUMG00000020816	ENST00000359428.5:c.4739A>G	9.37:g.134073620A>G	ENSP00000352400:p.Glu1580Gly	Somatic		Capture	Illumina HiSeq	Phase_I	133063441	A6NFQ0|Q15010|Q3KQZ0|Q5JUP7|Q75R47|Q86XD3	Missense_Mutation	SNP	ENST00000359428.5	37	CCDS6940.1	.	.	.	.	.	.	.	.	.	.	A	18.89	3.719663	0.68844	.	.	ENSG00000126883	ENST00000359428;ENST00000411637;ENST00000451030;ENST00000541375;ENST00000540899;ENST00000438605;ENST00000483497;ENST00000531600;ENST00000541688	T;T;T;T;T	0.54279	1.33;1.61;1.61;1.61;0.58	5.44	5.44	0.79542	.	0.000000	0.45126	D	0.000398	T	0.51126	0.1656	N	0.08118	0	0.09310	N	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.85130	0.997;0.994;0.994;0.994;0.994	T	0.48592	-0.9022	10	0.48119	T	0.1	-16.5007	11.0644	0.47966	0.8448:0.1552:0.0:0.0	.	406;1009;1174;1570;1580	B7ZAV2;F5H131;Q5JUP9;P35658-4;P35658	.;.;.;.;NU214_HUMAN	G	1580;1570;1581;1559;1174;1009;406;357;357	ENSP00000352400:E1580G;ENSP00000396576:E1570G;ENSP00000405014:E1581G;ENSP00000436793:E406G;ENSP00000435364:E357G	ENSP00000352400:E1580G	E	+	2	0	NUP214	133063441	0.660000	0.27420	0.100000	0.21137	0.155000	0.21991	2.377000	0.44300	2.070000	0.61991	0.379000	0.24179	GAG		NUP214-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000054694.2	NM_005085	
WASF3	10810	hgsc.bcm.edu	37	13	27259961	27259961	+	Silent	SNP	C	C	T			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr13:27259961C>T	ENST00000335327.5	+	10	1666	c.1488C>T	c.(1486-1488)gaC>gaT	p.D496D	WASF3_ENST00000361042.4_Silent_p.D493D	NM_006646.5	NP_006637.2	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	496					actin filament polymerization (GO:0030041)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|oligodendrocyte development (GO:0014003)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		CAGAGTTCGACGAGAACGACT	0.587																																																	0			13											79.0	64.0	69.0					13																	27259961		2203	4300	6503	26157961	SO:0001819	synonymous_variant	10810			AB020707	CCDS9318.1	13q12	2008-06-23			ENSG00000132970	ENSG00000132970			12734	protein-coding gene	gene with protein product		605068				10381382	Standard	NM_006646		Approved	WAVE3, SCAR3, KIAA0900	uc001uqv.3	Q9UPY6	OTTHUMG00000016621	ENST00000335327.5:c.1488C>T	13.37:g.27259961C>T		Somatic		Capture	Illumina HiSeq	Phase_I	26157961	O94974|Q86VQ2	Silent	SNP	ENST00000335327.5	37	CCDS9318.1																																																																																				WASF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044258.1		
FLT3	2322	hgsc.bcm.edu	37	13	28608472	28608472	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr13:28608472A>G	ENST00000241453.7	-	13	1751	c.1670T>C	c.(1669-1671)gTt>gCt	p.V557A	FLT3_ENST00000537084.1_Missense_Mutation_p.V557A|FLT3_ENST00000380982.4_Missense_Mutation_p.V557A	NM_004119.2	NP_004110.2	P36888	FLT3_HUMAN	fms-related tyrosine kinase 3	557			V -> I (in dbSNP:rs35958982). {ECO:0000269|PubMed:17344846}.		B cell differentiation (GO:0030183)|cellular response to cytokine stimulus (GO:0071345)|common myeloid progenitor cell proliferation (GO:0035726)|cytokine-mediated signaling pathway (GO:0019221)|dendritic cell differentiation (GO:0097028)|hemopoiesis (GO:0030097)|leukocyte homeostasis (GO:0001776)|lymphocyte proliferation (GO:0046651)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of STAT protein (GO:0042531)|pro-B cell differentiation (GO:0002328)|pro-T cell differentiation (GO:0002572)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor signaling pathway (GO:0038084)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|cytokine receptor activity (GO:0004896)|protein homodimerization activity (GO:0042803)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(12329)|kidney(2)|large_intestine(8)|lung(30)|ovary(4)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	12390	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0156)|Ovarian(182;0.0392)	Colorectal(13;0.000157)|READ - Rectum adenocarcinoma(15;0.105)	OV - Ovarian serous cystadenocarcinoma(117;0.00154)|all cancers(112;0.00459)|GBM - Glioblastoma multiforme(144;0.00562)|Epithelial(112;0.0959)|Lung(94;0.212)	Ponatinib(DB08901)|Sorafenib(DB00398)|Sunitinib(DB01268)	CAGGGTTAAAACGACAATGAA	0.393			"""Mis, O"""		"""AML, ALL"""																																			Dom	yes		13	13q12	2322	fms-related tyrosine kinase 3		L	0			13											96.0	89.0	92.0					13																	28608472		2203	4300	6503	27506472	SO:0001583	missense	2322			U02687	CCDS31953.1	13q12	2014-09-17			ENSG00000122025	ENSG00000122025	2.7.10.1	"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3765	protein-coding gene	gene with protein product		136351				8394751	Standard	NM_004119		Approved	STK1, FLK2, CD135	uc001urw.3	P36888	OTTHUMG00000016646	ENST00000241453.7:c.1670T>C	13.37:g.28608472A>G	ENSP00000241453:p.Val557Ala	Somatic		Capture	Illumina HiSeq	Phase_I	27506472	A0AVG9|B7ZLT7|B7ZLT8|F5H0A0|Q13414	Missense_Mutation	SNP	ENST00000241453.7	37	CCDS31953.1	.	.	.	.	.	.	.	.	.	.	A	10.85	1.466433	0.26335	.	.	ENSG00000122025	ENST00000241453;ENST00000380982;ENST00000537084	T;T;T	0.78595	-1.12;-1.19;-0.93	5.83	5.83	0.93111	.	0.552763	0.17442	N	0.174076	T	0.72748	0.3499	L	0.50333	1.59	0.09310	N	1	B;B	0.16802	0.019;0.004	B;B	0.12156	0.007;0.005	T	0.65919	-0.6051	10	0.72032	D	0.01	.	11.2703	0.49136	0.9292:0.0:0.0708:0.0	.	557;557	P36888-2;P36888	.;FLT3_HUMAN	A	557	ENSP00000241453:V557A;ENSP00000370369:V557A;ENSP00000438139:V557A	ENSP00000241453:V557A	V	-	2	0	FLT3	27506472	0.567000	0.26626	0.005000	0.12908	0.516000	0.34256	5.917000	0.69989	2.226000	0.72624	0.533000	0.62120	GTT		FLT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000044319.2		
FLT1	2321	hgsc.bcm.edu	37	13	28895699	28895699	+	Silent	SNP	C	C	A			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr13:28895699C>A	ENST00000282397.4	-	23	3326	c.3075G>T	c.(3073-3075)gcG>gcT	p.A1025A	FLT1_ENST00000540678.1_Silent_p.A243A|FLT1_ENST00000543394.1_Silent_p.A48A	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	1025	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				blood vessel morphogenesis (GO:0048514)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|embryonic morphogenesis (GO:0048598)|monocyte chemotaxis (GO:0002548)|patterning of blood vessels (GO:0001569)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phospholipase C activity (GO:0010863)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|protein autophosphorylation (GO:0046777)|sprouting angiogenesis (GO:0002040)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)|vascular endothelial growth factor receptor-1 signaling pathway (GO:0036323)|vascular endothelial growth factor signaling pathway (GO:0038084)	endosome (GO:0005768)|extracellular space (GO:0005615)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|growth factor binding (GO:0019838)|placental growth factor-activated receptor activity (GO:0036332)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|vascular endothelial growth factor-activated receptor activity (GO:0005021)|VEGF-A-activated receptor activity (GO:0036326)|VEGF-B-activated receptor activity (GO:0036327)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(8)|kidney(3)|large_intestine(20)|lung(55)|ovary(3)|prostate(1)|skin(12)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	115	Acute lymphoblastic leukemia(6;0.04)	Lung SC(185;0.0262)|Breast(139;0.188)	Colorectal(13;0.000674)	all cancers(112;0.0301)|Epithelial(112;0.155)|GBM - Glioblastoma multiforme(144;0.184)|OV - Ovarian serous cystadenocarcinoma(117;0.205)|Lung(94;0.207)	Axitinib(DB06626)|Pazopanib(DB06589)|Regorafenib(DB08896)|Sorafenib(DB00398)|Sunitinib(DB01268)	GAATGTTTCTCGCTGCCAGGT	0.393																																																	0			13											117.0	103.0	108.0					13																	28895699		2203	4300	6503	27793699	SO:0001819	synonymous_variant	2321			AF063657	CCDS9330.1, CCDS53860.1, CCDS53861.1, CCDS73556.1	13q12	2014-09-17	2012-11-19		ENSG00000102755	ENSG00000102755	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	3763	protein-coding gene	gene with protein product	"""vascular endothelial growth factor receptor 1"", ""vascular permeability factor receptor"""	165070	"""fms-related tyrosine kinase 1 (vascular endothelial growth factor/vascular permeability factor receptor)"""	FLT		2158038	Standard	NM_001159920		Approved	VEGFR1	uc001usb.3	P17948	OTTHUMG00000016648	ENST00000282397.4:c.3075G>T	13.37:g.28895699C>A		Somatic		Capture	Illumina HiSeq	Phase_I	27793699	A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Silent	SNP	ENST00000282397.4	37	CCDS9330.1																																																																																				FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1		
RB1	5925	hgsc.bcm.edu	37	13	48881500	48881500	+	Silent	SNP	T	T	C			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr13:48881500T>C	ENST00000267163.4	+	2	360	c.222T>C	c.(220-222)gcT>gcC	p.A74A		NM_000321.2	NP_000312.2	P06400	RB_HUMAN	retinoblastoma 1	74					androgen receptor signaling pathway (GO:0030521)|cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|cell morphogenesis involved in neuron differentiation (GO:0048667)|chromatin remodeling (GO:0006338)|digestive tract development (GO:0048565)|enucleate erythrocyte differentiation (GO:0043353)|G1/S transition of mitotic cell cycle (GO:0000082)|glial cell apoptotic process (GO:0034349)|hepatocyte apoptotic process (GO:0097284)|maintenance of mitotic sister chromatid cohesion (GO:0034088)|mitotic cell cycle (GO:0000278)|mitotic cell cycle checkpoint (GO:0007093)|myoblast differentiation (GO:0045445)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter during mitosis (GO:0007070)|negative regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0071930)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron apoptotic process (GO:0051402)|neuron maturation (GO:0042551)|neuron projection development (GO:0031175)|positive regulation of macrophage differentiation (GO:0045651)|positive regulation of mitotic metaphase/anaphase transition (GO:0045842)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to chromosome, centromeric region (GO:0071459)|Ras protein signal transduction (GO:0007265)|regulation of centromere complex assembly (GO:0090230)|regulation of cohesin localization to chromatin (GO:0071922)|regulation of lipid kinase activity (GO:0043550)|regulation of mitotic cell cycle (GO:0007346)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|sister chromatid biorientation (GO:0031134)|skeletal muscle cell differentiation (GO:0035914)|striated muscle cell differentiation (GO:0051146)|transcription, DNA-templated (GO:0006351)|viral process (GO:0016032)	chromatin (GO:0000785)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|Rb-E2F complex (GO:0035189)|spindle (GO:0005819)|SWI/SNF complex (GO:0016514)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|phosphoprotein binding (GO:0051219)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|ubiquitin protein ligase binding (GO:0031625)	p.0?(15)|p.?(3)		NS(3)|adrenal_gland(1)|bone(22)|breast(30)|central_nervous_system(48)|cervix(3)|endometrium(14)|eye(95)|gastrointestinal_tract_(site_indeterminate)(1)|haematopoietic_and_lymphoid_tissue(20)|kidney(3)|large_intestine(10)|liver(3)|lung(153)|oesophagus(1)|ovary(13)|pancreas(5)|pituitary(1)|prostate(14)|salivary_gland(2)|skin(9)|soft_tissue(9)|stomach(4)|upper_aerodigestive_tract(1)|urinary_tract(31)	496		all_cancers(8;6.9e-71)|all_epithelial(8;4.61e-22)|Acute lymphoblastic leukemia(8;1.1e-21)|all_hematologic(8;2.3e-21)|all_lung(13;1.51e-09)|Lung NSC(96;7.03e-07)|Breast(56;1.53e-05)|Prostate(109;0.000493)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0227)|Glioma(44;0.0286)|Lung SC(185;0.0301)		GBM - Glioblastoma multiforme(2;9.98e-18)|LUSC - Lung squamous cell carcinoma(3;0.013)	"""""""Insulin(DB00071)|Insulin Regular(DB00030)"""	GAGAGAGAGCTTGGTTAACTT	0.318		6	"""D, Mis, N, F, S"""		"""retinoblastoma, sarcoma, breast, small cell lung"""	"""retinoblastoma, sarcoma, breast, small cell lung"""			Hereditary Retinoblastoma	TCGA GBM(7;6.82e-08)|TSP Lung(12;0.097)|TCGA Ovarian(6;0.080)																													yes	Rec	yes	Familial retinoblastoma	13	13q14	5925	retinoblastoma gene		"""L, E, M, O"""	18	Whole gene deletion(15)|Unknown(3)	bone(10)|haematopoietic_and_lymphoid_tissue(2)|breast(2)|eye(1)|soft_tissue(1)|endometrium(1)|stomach(1)	13											138.0	141.0	140.0					13																	48881500		2203	4299	6502	47779501	SO:0001819	synonymous_variant	5925	Familial Cancer Database		M15400	CCDS31973.1	13q14.2	2014-09-17	2008-07-31		ENSG00000139687	ENSG00000139687		"""Endogenous ligands"""	9884	protein-coding gene	gene with protein product	"""prepro-retinoblastoma-associated protein"", ""protein phosphatase 1, regulatory subunit 130"""	614041	"""osteosarcoma"""	OSRC		1857421, 15057823	Standard	NM_000321		Approved	RB, PPP1R130	uc001vcb.3	P06400	OTTHUMG00000016900	ENST00000267163.4:c.222T>C	13.37:g.48881500T>C		Somatic		Capture	Illumina HiSeq	Phase_I	47779501	A8K5E3|P78499|Q5VW46|Q8IZL4	Silent	SNP	ENST00000267163.4	37	CCDS31973.1																																																																																				RB1-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000044884.1		
PCDH17	27253	hgsc.bcm.edu	37	13	58208514	58208514	+	Missense_Mutation	SNP	G	G	A			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr13:58208514G>A	ENST00000377918.3	+	1	1860	c.1834G>A	c.(1834-1836)Gcc>Acc	p.A612T		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	612	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(30)|liver(2)|lung(54)|ovary(4)|pancreas(2)|prostate(5)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	120		Lung NSC(96;0.027)|Prostate(109;0.0453)|Breast(118;0.128)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;1.06e-05)		CACTGTGCGCGCCCTAGACAG	0.657																																					Melanoma(72;952 1291 1619 12849 33676)												0			13											35.0	35.0	35.0					13																	58208514		2201	4296	6497	57106515	SO:0001583	missense	27253			AF029343	CCDS31986.1	13q21.1	2010-01-26			ENSG00000118946	ENSG00000118946		"""Cadherins / Protocadherins : Non-clustered"""	14267	protein-coding gene	gene with protein product		611760				10835267	Standard	NM_001040429		Approved	PCDH68, PCH68	uc001vhq.1	O14917	OTTHUMG00000016992	ENST00000377918.3:c.1834G>A	13.37:g.58208514G>A	ENSP00000367151:p.Ala612Thr	Somatic		Capture	Illumina HiSeq	Phase_I	57106515	A8K1R5|Q5VVW9|Q5VVX0	Missense_Mutation	SNP	ENST00000377918.3	37	CCDS31986.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.406418	0.83230	.	.	ENSG00000118946	ENST00000377918	T	0.61392	0.11	5.36	5.36	0.76844	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.85401	0.5688	H	0.97340	3.985	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.90677	0.4602	9	.	.	.	.	19.0883	0.93215	0.0:0.0:1.0:0.0	.	612;612	O14917-2;O14917	.;PCD17_HUMAN	T	612	ENSP00000367151:A612T	.	A	+	1	0	PCDH17	57106515	1.000000	0.71417	1.000000	0.80357	0.883000	0.51084	9.869000	0.99810	2.500000	0.84329	0.561000	0.74099	GCC		PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429	
EDNRB	1910	hgsc.bcm.edu	37	13	78474696	78474696	+	Missense_Mutation	SNP	G	G	C			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr13:78474696G>C	ENST00000334286.5	-	5	1281	c.1045C>G	c.(1045-1047)Ctt>Gtt	p.L349V	EDNRB_ENST00000377211.4_Missense_Mutation_p.L439V|EDNRB_ENST00000446573.1_Missense_Mutation_p.L349V	NM_000115.3|NM_001122659.2	NP_000106.1|NP_001116131.1	P24530	EDNRB_HUMAN	endothelin receptor type B	349					aging (GO:0007568)|cell surface receptor signaling pathway (GO:0007166)|cellular response to lipopolysaccharide (GO:0071222)|cGMP-mediated signaling (GO:0019934)|endothelin receptor signaling pathway (GO:0086100)|enteric nervous system development (GO:0048484)|enteric smooth muscle cell differentiation (GO:0035645)|epithelial fluid transport (GO:0042045)|macrophage chemotaxis (GO:0048246)|melanocyte differentiation (GO:0030318)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular protein metabolic process (GO:0032269)|negative regulation of neuron maturation (GO:0014043)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|neural crest cell migration (GO:0001755)|peripheral nervous system development (GO:0007422)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of penile erection (GO:0060406)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|posterior midgut development (GO:0007497)|regulation of blood pressure (GO:0008217)|regulation of epithelial cell proliferation (GO:0050678)|regulation of fever generation (GO:0031620)|regulation of pH (GO:0006885)|regulation of sensory perception of pain (GO:0051930)|response to organic cyclic compound (GO:0014070)|response to pain (GO:0048265)|sensory perception of pain (GO:0019233)|vasoconstriction (GO:0042310)|vasodilation (GO:0042311)|vein smooth muscle contraction (GO:0014826)	integral component of plasma membrane (GO:0005887)|membrane raft (GO:0045121)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)	endothelin receptor activity (GO:0004962)|peptide hormone binding (GO:0017046)	p.L349I(1)		breast(2)|endometrium(2)|kidney(1)|large_intestine(18)|lung(16)|skin(3)	42		Acute lymphoblastic leukemia(28;0.0279)|Breast(118;0.037)		GBM - Glioblastoma multiforme(99;0.0933)	Bosentan(DB00559)|MACITENTAN(DB08932)|Sitaxentan(DB06268)	TGATTATAAAGAGTGAGCTTC	0.433																																																	1	Substitution - Missense(1)	large_intestine(1)	13											83.0	87.0	86.0					13																	78474696		2203	4300	6503	77372697	SO:0001583	missense	1910			L06623	CCDS9461.1, CCDS55902.1	13q22	2012-08-08			ENSG00000136160	ENSG00000136160		"""GPCR / Class A : Endothelin receptors"""	3180	protein-coding gene	gene with protein product		131244		HSCR2, HSCR		1659806, 9556633	Standard	NM_000115		Approved	ETB	uc001vkp.1	P24530	OTTHUMG00000017111	ENST00000334286.5:c.1045C>G	13.37:g.78474696G>C	ENSP00000335311:p.Leu349Val	Somatic		Capture	Illumina HiSeq	Phase_I	77372697	A2A2Z8|A8K3T4|O15343|Q59GB1|Q5W0G9|Q8NHM6|Q8NHM7|Q8NHM8|Q8NHM9|Q9UD23|Q9UQK3	Missense_Mutation	SNP	ENST00000334286.5	37	CCDS9461.1	.	.	.	.	.	.	.	.	.	.	G	7.342	0.621060	0.14193	.	.	ENSG00000136160	ENST00000377211;ENST00000446573;ENST00000334286	T;T;T	0.71698	-0.59;-0.59;-0.59	5.62	2.74	0.32292	GPCR, rhodopsin-like superfamily (1);	0.217810	0.45867	D	0.000326	T	0.36524	0.0970	N	0.01188	-0.97	0.32728	N	0.509345	B;B;B	0.09022	0.002;0.001;0.001	B;B;B	0.14023	0.009;0.007;0.01	T	0.36089	-0.9762	10	0.12430	T	0.62	-6.993	9.0855	0.36579	0.0694:0.0:0.4439:0.4867	.	349;439;349	P24530-2;P24530-3;P24530	.;.;EDNRB_HUMAN	V	439;349;349	ENSP00000366416:L439V;ENSP00000403401:L349V;ENSP00000335311:L349V	ENSP00000335311:L349V	L	-	1	0	EDNRB	77372697	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	1.495000	0.35627	0.823000	0.34589	0.650000	0.86243	CTT		EDNRB-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276505.1		
SLITRK1	114798	hgsc.bcm.edu	37	13	84454756	84454756	+	Missense_Mutation	SNP	T	T	C			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr13:84454756T>C	ENST00000377084.2	-	1	1772	c.887A>G	c.(886-888)gAg>gGg	p.E296G		NM_001281503.1|NM_052910.1	NP_001268432.1|NP_443142.1	Q96PX8	SLIK1_HUMAN	SLIT and NTRK-like family, member 1	296					adult behavior (GO:0030534)|axonogenesis (GO:0007409)|homeostatic process (GO:0042592)|multicellular organism growth (GO:0035264)	integral component of membrane (GO:0016021)				NS(2)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|liver(1)|lung(36)|ovary(4)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	80	Medulloblastoma(90;0.18)	Breast(118;0.212)		GBM - Glioblastoma multiforme(99;0.07)		GGCATGATCCTCTTGCCCATT	0.552																																																	0			13											77.0	76.0	76.0					13																	84454756		2203	4300	6503	83352757	SO:0001583	missense	114798			AB067497	CCDS9464.1	13q31.1	2004-01-08	2004-01-08		ENSG00000178235	ENSG00000178235			20297	protein-coding gene	gene with protein product		609678	"""leucine rich repeat containing 12"""	LRRC12		14557068, 12975309	Standard	NM_001281503		Approved	KIAA1910	uc001vlk.3	Q96PX8	OTTHUMG00000017149	ENST00000377084.2:c.887A>G	13.37:g.84454756T>C	ENSP00000366288:p.Glu296Gly	Somatic		Capture	Illumina HiSeq	Phase_I	83352757	Q5U5I6|Q96SF9	Missense_Mutation	SNP	ENST00000377084.2	37	CCDS9464.1	.	.	.	.	.	.	.	.	.	.	T	5.870	0.344633	0.11126	.	.	ENSG00000178235	ENST00000377084	T	0.58940	0.3	4.85	4.85	0.62838	.	0.209202	0.45126	D	0.000386	T	0.36166	0.0957	N	0.08118	0	0.40981	D	0.984771	B	0.09022	0.002	B	0.06405	0.002	T	0.20672	-1.0268	10	0.23302	T	0.38	-7.8753	13.4025	0.60891	0.0:0.0:0.0:1.0	.	296	Q96PX8	SLIK1_HUMAN	G	296	ENSP00000366288:E296G	ENSP00000366288:E296G	E	-	2	0	SLITRK1	83352757	1.000000	0.71417	0.994000	0.49952	0.973000	0.67179	3.963000	0.56773	2.042000	0.60477	0.454000	0.30748	GAG		SLITRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045396.1	NM_052910	
PITRM1	10531	hgsc.bcm.edu	37	10	3202103	3202103	+	Missense_Mutation	SNP	G	G	A			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr10:3202103G>A	ENST00000224949.4	-	9	978	c.944C>T	c.(943-945)cCg>cTg	p.P315L	PITRM1_ENST00000380994.1_5'Flank|PITRM1_ENST00000451104.2_Missense_Mutation_p.P283L|PITRM1-AS1_ENST00000598280.1_RNA|PITRM1_ENST00000380989.2_Missense_Mutation_p.P315L|PITRM1-AS1_ENST00000601046.1_RNA			Q5JRX3	PREP_HUMAN	pitrilysin metallopeptidase 1	315					positive regulation of catalytic activity (GO:0043085)|proteolysis (GO:0006508)	mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)	enzyme activator activity (GO:0008047)|metal ion binding (GO:0046872)|metalloendopeptidase activity (GO:0004222)			breast(2)|cervix(1)|endometrium(2)|kidney(5)|large_intestine(5)|liver(1)|lung(5)|ovary(1)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|urinary_tract(3)	33						AAATGAATCCGGGCCACATGT	0.433																																																	0			10											169.0	165.0	166.0					10																	3202103		1055	2149	3204	3192103	SO:0001583	missense	10531			AB029027	CCDS55699.1, CCDS55700.1, CCDS59208.1	10p15.2	2008-07-30	2005-08-17		ENSG00000107959	ENSG00000107959			17663	protein-coding gene	gene with protein product	"""PreP peptidasome"""		"""pitrilysin metalloproteinase 1"""			1036083, 10470851, 16849325	Standard	NM_014889		Approved	MP1, KIAA1104, hMP1, PreP	uc009xhv.2	Q5JRX3	OTTHUMG00000017557	ENST00000224949.4:c.944C>T	10.37:g.3202103G>A	ENSP00000224949:p.Pro315Leu	Somatic		Capture	Illumina HiSeq	Phase_I	3192103	B3KMJ6|B4E0J8|C9JSL2|E7ES23|O95204|Q2M2G6|Q4VBR1|Q5JRW7|Q7L5Z7|Q9BSI6|Q9BVJ5|Q9UPP8	Missense_Mutation	SNP	ENST00000224949.4	37	CCDS59208.1	.	.	.	.	.	.	.	.	.	.	g	6.279	0.419594	0.11928	.	.	ENSG00000107959	ENST00000224949;ENST00000380980;ENST00000380989;ENST00000451104	T;T;T	0.08807	3.05;3.05;3.05	6.17	5.27	0.74061	Peptidase M16, C-terminal (1);Metalloenzyme, LuxS/M16 peptidase-like, metal-binding (1);	0.104471	0.64402	D	0.000003	T	0.05181	0.0138	N	0.17379	0.485	0.52099	D	0.99994	B;B;B;B;B;B	0.28258	0.002;0.01;0.205;0.123;0.123;0.123	B;B;B;B;B;B	0.30029	0.001;0.009;0.105;0.11;0.11;0.11	T	0.41998	-0.9477	10	0.11485	T	0.65	-31.4691	8.966	0.35877	0.0966:0.149:0.7544:0.0	.	308;283;315;315;315;308	E9PDX6;E7ES23;Q5JRX3-2;C9JSL2;Q5JRX3;B4DH07	.;.;.;.;PREP_HUMAN;.	L	315;308;315;283	ENSP00000224949:P315L;ENSP00000370377:P315L;ENSP00000401201:P283L	ENSP00000224949:P315L	P	-	2	0	PITRM1	3192103	1.000000	0.71417	0.913000	0.36048	0.194000	0.23727	3.817000	0.55668	1.615000	0.50252	0.655000	0.94253	CCG		PITRM1-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000046469.2		
ZEB1	6935	hgsc.bcm.edu	37	10	31791299	31791299	+	Missense_Mutation	SNP	G	G	T			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr10:31791299G>T	ENST00000320985.10	+	4	453	c.343G>T	c.(343-345)Gat>Tat	p.D115Y	ZEB1_ENST00000361642.5_Missense_Mutation_p.D116Y|ZEB1_ENST00000560721.2_Missense_Mutation_p.D95Y|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000446923.2_Missense_Mutation_p.D99Y|ZEB1_ENST00000542815.3_Missense_Mutation_p.D48Y			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	115					cartilage development (GO:0051216)|cell proliferation (GO:0008283)|cellular response to amino acid stimulus (GO:0071230)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cochlea morphogenesis (GO:0090103)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain development (GO:0030900)|immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell differentiation (GO:0030857)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|pattern specification process (GO:0007389)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mesenchymal cell proliferation (GO:0010464)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of T cell differentiation in thymus (GO:0033081)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transforming growth factor beta receptor signaling pathway (GO:0017015)|response to activity (GO:0014823)|response to nutrient levels (GO:0031667)|semicircular canal morphogenesis (GO:0048752)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|double-stranded DNA binding (GO:0003690)|E-box binding (GO:0070888)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			NS(2)|breast(4)|central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(14)|lung(38)|ovary(3)|skin(6)|upper_aerodigestive_tract(4)	77		Prostate(175;0.0156)				ATGCGAGTCAGATGCAGAAAA	0.348																																					Ovarian(40;423 959 14296 36701 49589)												0			10											107.0	98.0	101.0					10																	31791299		2203	4300	6503	31831305	SO:0001583	missense	6935			AK091478	CCDS7169.1, CCDS44370.1, CCDS53505.1, CCDS53506.1, CCDS53507.1	10p11.22	2014-02-14	2007-02-15	2007-02-15	ENSG00000148516	ENSG00000148516		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	11642	protein-coding gene	gene with protein product		189909	"""transcription factor 8 (represses interleukin 2 expression)"", ""posterior polymorphous corneal dystrophy 3"""	TCF8, PPCD3		1427828, 1840704, 15384081, 16252232	Standard	NM_001128128		Approved	BZP, ZEB, AREB6, NIL-2-A, Zfhep, Zfhx1a, FECD6	uc001ivu.4	P37275	OTTHUMG00000017907	ENST00000320985.10:c.343G>T	10.37:g.31791299G>T	ENSP00000319248:p.Asp115Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	31831305	B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Missense_Mutation	SNP	ENST00000320985.10	37	CCDS7169.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	23.8|23.8	4.464381|4.464381	0.84425|0.84425	.|.	.|.	ENSG00000148516|ENSG00000148516	ENST00000537225;ENST00000361642;ENST00000546250;ENST00000542815;ENST00000320985;ENST00000437844;ENST00000424869;ENST00000446923|ENST00000543514	D;D;D;D;D|.	0.82526|.	-1.62;-1.62;-1.62;-1.62;-1.62|.	5.92|5.92	5.92|5.92	0.95590|0.95590	.|.	0.099877|.	0.44285|.	D|.	0.000462|.	T|T	0.78091|0.78091	0.4229|0.4229	M|M	0.70275|0.70275	2.135|2.135	0.80722|0.80722	D|D	1|1	D;D;D;D;D;D|.	0.89917|.	0.999;1.0;1.0;0.999;1.0;1.0|.	D;D;D;D;D;D|.	0.80764|.	0.993;0.994;0.994;0.971;0.994;0.994|.	T|T	0.78768|0.78768	-0.2075|-0.2075	10|6	0.66056|0.87932	D|D	0.02|0	-26.901|-26.901	20.3129|20.3129	0.98645|0.98645	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	48;99;115;95;116;115|.	F5H4I8;E9PCM7;B2RBI8;Q5VZ84;Q2KJ05;P37275|.	.;.;.;.;.;ZEB1_HUMAN|.	Y|H	115;116;115;48;115;95;116;99|6	ENSP00000354487:D116Y;ENSP00000444891:D48Y;ENSP00000319248:D115Y;ENSP00000415961:D116Y;ENSP00000391612:D99Y|.	ENSP00000319248:D115Y|ENSP00000443742:Q6H	D|Q	+|+	1|3	0|2	ZEB1|ZEB1	31831305|31831305	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	7.404000|7.404000	0.79996|0.79996	2.800000|2.800000	0.96347|0.96347	0.650000|0.650000	0.86243|0.86243	GAT|CAG		ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	NM_030751	
ANKRD30A	91074	hgsc.bcm.edu	37	10	37431116	37431116	+	Missense_Mutation	SNP	G	G	A	rs373496322		TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr10:37431116G>A	ENST00000602533.1	+	7	1222	c.1123G>A	c.(1123-1125)Gtg>Atg	p.V375M	ANKRD30A_ENST00000374660.1_Missense_Mutation_p.V375M|ANKRD30A_ENST00000361713.1_Missense_Mutation_p.V375M			Q9BXX3	AN30A_HUMAN	ankyrin repeat domain 30A	431					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(8)|endometrium(14)|kidney(21)|large_intestine(13)|lung(70)|ovary(8)|pancreas(1)|prostate(3)|skin(15)|stomach(1)|urinary_tract(3)	158						GACTGGATGCGTGGCAAGAGT	0.388																																																	0			10						G	MET/VAL	1,3737		0,1,1868	75.0	75.0	75.0		1123	0.1	0.0	10		75	0,8230		0,0,4115	no	missense	ANKRD30A	NM_052997.2	21	0,1,5983	AA,AG,GG		0.0,0.0268,0.0084	benign	375/1342	37431116	1,11967	1869	4115	5984	37471122	SO:0001583	missense	91074			AF269087	CCDS7193.1	10p11.21	2013-01-10			ENSG00000148513	ENSG00000148513		"""Ankyrin repeat domain containing"""	17234	protein-coding gene	gene with protein product	"""breast cancer antigen NY-BR-1"""	610856				11280766	Standard	NM_052997		Approved	NY-BR-1	uc001iza.1	Q9BXX3	OTTHUMG00000017968	ENST00000602533.1:c.1123G>A	10.37:g.37431116G>A	ENSP00000473551:p.Val375Met	Somatic		Capture	Illumina HiSeq	Phase_I	37471122	Q5W025	Missense_Mutation	SNP	ENST00000602533.1	37		.	.	.	.	.	.	.	.	.	.	.	6.416	0.444848	0.12164	2.68E-4	0.0	ENSG00000148513	ENST00000361713;ENST00000374660	T;T	0.50813	0.8;0.73	0.0465	0.0465	0.14256	.	.	.	.	.	T	0.30008	0.0751	L	0.40543	1.245	0.09310	N	1	P	0.47841	0.901	B	0.34779	0.189	T	0.15492	-1.0435	8	0.51188	T	0.08	.	.	.	.	.	431	Q9BXX3	AN30A_HUMAN	M	375	ENSP00000354432:V375M;ENSP00000363792:V375M	ENSP00000354432:V375M	V	+	1	0	ANKRD30A	37471122	0.003000	0.15002	0.013000	0.15412	0.013000	0.08279	-0.895000	0.04118	0.132000	0.18615	0.134000	0.15878	GTG		ANKRD30A-001	KNOWN	NMD_exception|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000047588.2	NM_052997	
FRMPD2	143162	hgsc.bcm.edu	37	10	49395321	49395321	+	Missense_Mutation	SNP	C	C	A	rs142488456		TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr10:49395321C>A	ENST00000374201.3	-	17	2482	c.2180G>T	c.(2179-2181)cGg>cTg	p.R727L	FRMPD2_ENST00000407470.4_Missense_Mutation_p.R695L|FRMPD2_ENST00000305531.3_Missense_Mutation_p.R702L	NM_001018071.3|NM_001042512.2	NP_001018081|NP_001035977.2	Q68DX3	FRPD2_HUMAN	FERM and PDZ domain containing 2	727			R -> W (in a colorectal cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		tight junction assembly (GO:0070830)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|tight junction (GO:0005923)	1-phosphatidylinositol binding (GO:0005545)			NS(2)|autonomic_ganglia(2)|breast(5)|cervix(1)|endometrium(3)|kidney(7)|large_intestine(15)|lung(24)|ovary(2)|prostate(1)|skin(3)|urinary_tract(1)	66				Kidney(211;0.201)		CAGCTGCTCCCGGCCAGTGCA	0.572																																																	0			10											59.0	54.0	56.0					10																	49395321		2203	4300	6503	49065327	SO:0001583	missense	143162			AK123038	CCDS31195.1	10q11	2010-10-13			ENSG00000170324	ENSG00000170324			28572	protein-coding gene	gene with protein product		613323	"""PDZ domain containing 5C"""	PDZD5C, PDZK5C			Standard	NM_001018071		Approved	MGC35285	uc001jdv.3	Q68DX3	OTTHUMG00000018171	ENST00000374201.3:c.2180G>T	10.37:g.49395321C>A	ENSP00000363317:p.Arg727Leu	Somatic		Capture	Illumina HiSeq	Phase_I	49065327	B7WNW0|B7ZML5|Q2VY07|Q6GMQ9|Q6ZN38|Q6ZWI2|Q8N5T9	Missense_Mutation	SNP	ENST00000374201.3	37	CCDS31195.1	.	.	.	.	.	.	.	.	.	.	C	8.958	0.969834	0.18659	.	.	ENSG00000170324	ENST00000374201;ENST00000305531;ENST00000407470	T;T;T	0.64438	-0.05;-0.09;-0.1	4.06	-8.12	0.01078	.	.	.	.	.	T	0.41236	0.1150	L	0.27053	0.805	0.09310	N	1	B;B;B	0.26318	0.146;0.007;0.146	B;B;B	0.22601	0.04;0.003;0.04	T	0.24584	-1.0156	9	0.30078	T	0.28	.	10.3274	0.43801	0.0:0.1389:0.186:0.6751	.	702;727;695	Q68DX3-2;Q68DX3;F8WCT2	.;FRPD2_HUMAN;.	L	727;702;695	ENSP00000363317:R727L;ENSP00000307079:R702L;ENSP00000384339:R695L	ENSP00000307079:R702L	R	-	2	0	FRMPD2	49065327	0.000000	0.05858	0.000000	0.03702	0.855000	0.48748	-4.405000	0.00239	-3.053000	0.00259	-0.123000	0.14984	CGG		FRMPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047923.3	NM_152428	
FAM13C	220965	hgsc.bcm.edu	37	10	61029686	61029686	+	Missense_Mutation	SNP	G	G	A			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr10:61029686G>A	ENST00000373868.2	-	7	863	c.776C>T	c.(775-777)tCt>tTt	p.S259F	FAM13C_ENST00000419214.2_Missense_Mutation_p.S259F|FAM13C_ENST00000468840.2_Missense_Mutation_p.S176F|FAM13C_ENST00000442566.3_Missense_Mutation_p.S280F|FAM13C_ENST00000373867.3_Missense_Mutation_p.S176F|FAM13C_ENST00000277705.6_Missense_Mutation_p.S280F|FAM13C_ENST00000422313.2_Missense_Mutation_p.S259F|FAM13C_ENST00000435852.2_Missense_Mutation_p.S259F	NM_198215.3	NP_937858.2	Q8NE31	FA13C_HUMAN	family with sequence similarity 13, member C	259										NS(1)|breast(2)|endometrium(3)|kidney(2)|large_intestine(8)|lung(19)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	45						GCTGGGTGGAGATGGGGCTGA	0.428																																																	0			10											77.0	71.0	73.0					10																	61029686		2203	4300	6503	60699692	SO:0001583	missense	220965			U79304	CCDS31207.1, CCDS44406.1, CCDS7255.1, CCDS53538.1	10q21	2009-09-15	2009-01-20	2009-01-20	ENSG00000148541	ENSG00000148541			19371	protein-coding gene	gene with protein product			"""family with sequence similarity 13, member C1"""	FAM13C1			Standard	NM_001001971		Approved		uc001jkn.3	Q8NE31	OTTHUMG00000018277	ENST00000373868.2:c.776C>T	10.37:g.61029686G>A	ENSP00000362975:p.Ser259Phe	Somatic		Capture	Illumina HiSeq	Phase_I	60699692	B7ZB77|Q5T631|Q6P2M3|Q99787	Missense_Mutation	SNP	ENST00000373868.2	37	CCDS7255.1	.	.	.	.	.	.	.	.	.	.	G	26.9	4.777731	0.90195	.	.	ENSG00000148541	ENST00000373867;ENST00000373868;ENST00000442566;ENST00000277705;ENST00000419214;ENST00000468840;ENST00000435852;ENST00000422313;ENST00000468696	T;T;T;T;T;T;T;T;T	0.78707	-1.2;-1.2;-1.2;-1.2;0.09;-1.2;-1.2;-1.2;-1.2	5.64	5.64	0.86602	.	0.000000	0.64402	D	0.000001	D	0.88160	0.6362	M	0.71581	2.175	0.53688	D	0.999975	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.999;0.999;1.0;0.999;0.999	D	0.88255	0.2919	10	0.62326	D	0.03	-14.0136	19.7156	0.96119	0.0:0.0:1.0:0.0	.	259;176;259;259;259	B7Z2K3;B7ZB77;Q8NE31-2;Q8NE31-3;Q8NE31	.;.;.;.;FA13C_HUMAN	F	176;259;280;280;259;176;259;259;37	ENSP00000362974:S176F;ENSP00000362975:S259F;ENSP00000395661:S280F;ENSP00000277705:S280F;ENSP00000391993:S259F;ENSP00000423896:S176F;ENSP00000392302:S259F;ENSP00000400241:S259F;ENSP00000445068:S37F	ENSP00000277705:S280F	S	-	2	0	FAM13C	60699692	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	8.954000	0.93051	2.658000	0.90341	0.655000	0.94253	TCT		FAM13C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048162.2		
DNAJB12	54788	hgsc.bcm.edu	37	10	74103215	74103215	+	Silent	SNP	C	C	T			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr10:74103215C>T	ENST00000444643.2	-	3	698	c.366G>A	c.(364-366)tcG>tcA	p.S122S	DNAJB12_ENST00000461919.1_5'UTR|DNAJB12_ENST00000338820.3_Silent_p.S156S|DNAJB12_ENST00000394903.2_Silent_p.S156S			Q9NXW2	DJB12_HUMAN	DnaJ (Hsp40) homolog, subfamily B, member 12	122	J. {ECO:0000255|PROSITE- ProRule:PRU00286}.					integral component of membrane (GO:0016021)|membrane (GO:0016020)				endometrium(1)|large_intestine(2)|skin(1)	4						GGTCCTCATCCGAGGCCCCTC	0.562																																																	0			10											133.0	114.0	121.0					10																	74103215		2203	4300	6503	73773221	SO:0001819	synonymous_variant	54788			AK000034	CCDS7316.2	10q22	2011-09-02			ENSG00000148719	ENSG00000148719		"""Heat shock proteins / DNAJ (HSP40)"""	14891	protein-coding gene	gene with protein product		608376				11147971	Standard	NM_001002762		Approved	DJ10, FLJ20027	uc001jta.2	Q9NXW2	OTTHUMG00000018436	ENST00000444643.2:c.366G>A	10.37:g.74103215C>T		Somatic		Capture	Illumina HiSeq	Phase_I	73773221	B7Z7I3|Q9H6H0	Silent	SNP	ENST00000444643.2	37																																																																																					DNAJB12-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000048581.2		
PTEN	5728	hgsc.bcm.edu	37	10	89690836	89690836	+	Missense_Mutation	SNP	T	T	A			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr10:89690836T>A	ENST00000371953.3	+	4	1600	c.243T>A	c.(241-243)ttT>ttA	p.F81L		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	81	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.L70fs*7(4)|p.C71fs*6(2)|p.Y27fs*1(2)|p.F56fs*2(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		CCGCCAAATTTAATTGCAGAG	0.303		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																													yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	phosphatase and tensin homolog gene		"""L, E, M, O"""	56	Whole gene deletion(37)|Deletion - Frameshift(14)|Unknown(5)	prostate(16)|central_nervous_system(14)|skin(6)|lung(5)|breast(5)|haematopoietic_and_lymphoid_tissue(4)|ovary(3)|soft_tissue(1)|endometrium(1)|urinary_tract(1)	10	GRCh37	CI984161	PTEN	I							80.0	75.0	77.0					10																	89690836		2202	4294	6496	89680816	SO:0001583	missense	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.243T>A	10.37:g.89690836T>A	ENSP00000361021:p.Phe81Leu	Somatic		Capture	Illumina HiSeq	Phase_I	89680816	B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	T	36	5.606492	0.96626	.	.	ENSG00000171862	ENST00000371953	D	0.83992	-1.79	5.62	5.62	0.85841	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.90494	0.7022	M	0.75264	2.295	0.80722	D	1	D	0.76494	0.999	D	0.79108	0.992	D	0.90568	0.4520	9	.	.	.	-9.5547	16.1135	0.81278	0.0:0.0:0.0:1.0	.	81	P60484	PTEN_HUMAN	L	81	ENSP00000361021:F81L	.	F	+	3	2	PTEN	89680816	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.586000	0.82596	2.267000	0.75376	0.383000	0.25322	TTT		PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
PTEN	5728	hgsc.bcm.edu	37	10	89692899	89692899	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr10:89692899A>G	ENST00000371953.3	+	5	1740	c.383A>G	c.(382-384)aAg>aGg	p.K128R		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	128	Phosphatase tensin-type. {ECO:0000255|PROSITE-ProRule:PRU00590}.				activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.?(5)|p.R55fs*1(5)|p.K128_R130del(3)|p.Y27fs*1(2)|p.A121_F145del(1)|p.G127fs*5(1)|p.F56fs*2(1)|p.K128fs*47(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		AAAGCTGGAAAGGGACGAACT	0.413		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																													yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	phosphatase and tensin homolog gene		"""L, E, M, O"""	56	Whole gene deletion(37)|Deletion - Frameshift(10)|Unknown(5)|Deletion - In frame(4)	prostate(16)|central_nervous_system(11)|skin(6)|lung(5)|ovary(5)|haematopoietic_and_lymphoid_tissue(4)|endometrium(3)|breast(3)|cervix(1)|soft_tissue(1)|urinary_tract(1)	10											141.0	130.0	134.0					10																	89692899		2203	4300	6503	89682879	SO:0001583	missense	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.383A>G	10.37:g.89692899A>G	ENSP00000361021:p.Lys128Arg	Somatic		Capture	Illumina HiSeq	Phase_I	89682879	B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	A	28.9	4.960666	0.92791	.	.	ENSG00000171862	ENST00000371953	D	0.85171	-1.95	5.22	5.22	0.72569	Phosphatase tensin type (1);Dual specificity phosphatase, catalytic domain (1);	0.000000	0.85682	D	0.000000	D	0.92205	0.7528	M	0.79693	2.465	0.80722	D	1	D	0.76494	0.999	D	0.83275	0.996	D	0.92647	0.6129	9	.	.	.	-9.6267	15.1019	0.72284	1.0:0.0:0.0:0.0	.	128	P60484	PTEN_HUMAN	R	128	ENSP00000361021:K128R	.	K	+	2	0	PTEN	89682879	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.918000	0.92759	1.953000	0.56701	0.533000	0.62120	AAG		PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
PTEN	5728	hgsc.bcm.edu	37	10	89725051	89725051	+	Missense_Mutation	SNP	T	T	C			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr10:89725051T>C	ENST00000371953.3	+	9	2391	c.1034T>C	c.(1033-1035)cTg>cCg	p.L345P		NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	345	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.		L -> Q (in glioblastoma; reduced tumor suppressor activity; loss of phosphatase activity towards Ins(1,3,4,5)P4; reduced ability to inactivate AKT/PKB; retains ability to bind phospholipid membranes). {ECO:0000269|PubMed:9331071}.		activation of mitotic anaphase-promoting complex activity (GO:0007092)|aging (GO:0007568)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|brain morphogenesis (GO:0048854)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle tissue development (GO:0048738)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|central nervous system development (GO:0007417)|central nervous system myelin maintenance (GO:0032286)|central nervous system neuron axonogenesis (GO:0021955)|dendritic spine morphogenesis (GO:0060997)|dentate gyrus development (GO:0021542)|endothelial cell migration (GO:0043542)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|innate immune response (GO:0045087)|inositol phosphate dephosphorylation (GO:0046855)|inositol phosphate metabolic process (GO:0043647)|learning or memory (GO:0007611)|locomotor rhythm (GO:0045475)|locomotory behavior (GO:0007626)|long term synaptic depression (GO:0060292)|long-term synaptic potentiation (GO:0060291)|male mating behavior (GO:0060179)|maternal behavior (GO:0042711)|memory (GO:0007613)|multicellular organismal response to stress (GO:0033555)|negative regulation of apoptotic process (GO:0043066)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell aging (GO:0090344)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell size (GO:0045792)|negative regulation of cyclin-dependent protein serine/threonine kinase activity involved in G1/S transition of mitotic cell cycle (GO:0031658)|negative regulation of dendritic spine morphogenesis (GO:0061002)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of excitatory postsynaptic membrane potential (GO:0090394)|negative regulation of focal adhesion assembly (GO:0051895)|negative regulation of G1/S transition of mitotic cell cycle (GO:2000134)|negative regulation of myelination (GO:0031642)|negative regulation of organ growth (GO:0046621)|negative regulation of phagocytosis (GO:0050765)|negative regulation of phosphatidylinositol 3-kinase signaling (GO:0014067)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of ribosome biogenesis (GO:0090071)|negative regulation of synaptic vesicle clustering (GO:2000808)|neuron-neuron synaptic transmission (GO:0007270)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell proliferation (GO:0008284)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|postsynaptic density assembly (GO:0097107)|prepulse inhibition (GO:0060134)|presynaptic membrane assembly (GO:0097105)|prostate gland growth (GO:0060736)|protein dephosphorylation (GO:0006470)|protein kinase B signaling (GO:0043491)|protein stabilization (GO:0050821)|regulation of B cell apoptotic process (GO:0002902)|regulation of cellular component size (GO:0032535)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|regulation of myeloid cell apoptotic process (GO:0033032)|regulation of neuron projection development (GO:0010975)|regulation of protein stability (GO:0031647)|response to arsenic-containing substance (GO:0046685)|response to ATP (GO:0033198)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to glucose (GO:0009749)|response to nutrient (GO:0007584)|response to zinc ion (GO:0010043)|rhythmic synaptic transmission (GO:0060024)|small molecule metabolic process (GO:0044281)|social behavior (GO:0035176)|synapse assembly (GO:0007416)|synapse maturation (GO:0060074)|T cell receptor signaling pathway (GO:0050852)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|mitochondrion (GO:0005739)|myelin sheath adaxonal region (GO:0035749)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|Schmidt-Lanterman incisure (GO:0043220)	anaphase-promoting complex binding (GO:0010997)|enzyme binding (GO:0019899)|inositol-1,3,4,5-tetrakisphosphate 3-phosphatase activity (GO:0051717)|lipid binding (GO:0008289)|magnesium ion binding (GO:0000287)|PDZ domain binding (GO:0030165)|phosphatidylinositol-3,4,5-trisphosphate 3-phosphatase activity (GO:0016314)|phosphatidylinositol-3,4-bisphosphate 3-phosphatase activity (GO:0051800)|phosphatidylinositol-3-phosphatase activity (GO:0004438)|phosphoprotein phosphatase activity (GO:0004721)|protein serine/threonine phosphatase activity (GO:0004722)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)	p.0?(37)|p.R55fs*1(5)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.L345Q(1)		NS(28)|autonomic_ganglia(2)|biliary_tract(6)|bone(5)|breast(92)|central_nervous_system(676)|cervix(26)|endometrium(1068)|eye(8)|haematopoietic_and_lymphoid_tissue(137)|kidney(24)|large_intestine(98)|liver(20)|lung(91)|meninges(2)|oesophagus(2)|ovary(82)|pancreas(6)|prostate(129)|salivary_gland(5)|skin(127)|soft_tissue(19)|stomach(30)|testis(1)|thyroid(29)|upper_aerodigestive_tract(29)|urinary_tract(12)|vulva(17)	2771		all_cancers(4;3.61e-31)|all_epithelial(4;3.96e-23)|Prostate(4;8.12e-23)|Breast(4;0.000111)|Melanoma(5;0.00146)|all_hematologic(4;0.00227)|Colorectal(252;0.00494)|all_neural(4;0.00513)|Acute lymphoblastic leukemia(4;0.0116)|Glioma(4;0.0274)|all_lung(38;0.132)	KIRC - Kidney renal clear cell carcinoma(1;0.214)	UCEC - Uterine corpus endometrioid carcinoma (6;0.000228)|all cancers(1;4.16e-84)|GBM - Glioblastoma multiforme(1;7.77e-49)|Epithelial(1;7.67e-41)|OV - Ovarian serous cystadenocarcinoma(1;6.22e-15)|BRCA - Breast invasive adenocarcinoma(1;1.1e-06)|Lung(2;3.18e-06)|Colorectal(12;4.88e-06)|LUSC - Lung squamous cell carcinoma(2;4.97e-06)|COAD - Colon adenocarcinoma(12;1.13e-05)|Kidney(1;0.000288)|KIRC - Kidney renal clear cell carcinoma(1;0.00037)|STAD - Stomach adenocarcinoma(243;0.218)		TAGGTGAAGCTGTACTTCACA	0.323		31	"""D, Mis, N, F, S"""		"""glioma,  prostate, endometrial"""	"""harmartoma, glioma,  prostate, endometrial"""			Proteus syndrome;Juvenile Polyposis;Hereditary Mixed Polyposis Syndrome type 1;Cowden syndrome;Bannayan-Riley-Ruvalcaba syndrome	HNSCC(9;0.0022)|TCGA GBM(2;<1E-08)|TSP Lung(26;0.18)																													yes	Rec	yes	"""Cowden Syndrome, Bannayan-Riley-Ruvalcaba syndrome"""	10	10q23.3	5728	phosphatase and tensin homolog gene		"""L, E, M, O"""	48	Whole gene deletion(37)|Deletion - Frameshift(9)|Substitution - Missense(1)|Deletion - In frame(1)	prostate(16)|central_nervous_system(11)|skin(5)|lung(4)|haematopoietic_and_lymphoid_tissue(3)|breast(3)|ovary(3)|urinary_tract(2)|soft_tissue(1)	10											39.0	37.0	37.0					10																	89725051		2203	4300	6503	89715031	SO:0001583	missense	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.1034T>C	10.37:g.89725051T>C	ENSP00000361021:p.Leu345Pro	Somatic		Capture	Illumina HiSeq	Phase_I	89715031	B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	T	11.74	1.728670	0.30593	.	.	ENSG00000171862	ENST00000371953	D	0.89196	-2.48	5.11	5.11	0.69529	Tensin phosphatase, C2 domain (2);C2 calcium/lipid-binding domain, CaLB (1);	0.068871	0.64402	D	0.000020	D	0.89291	0.6673	M	0.80332	2.49	0.80722	D	1	B	0.18968	0.032	B	0.23716	0.048	D	0.86345	0.1707	9	.	.	.	-2.7052	15.2038	0.73162	0.0:0.0:0.0:1.0	.	345	P60484	PTEN_HUMAN	P	345	ENSP00000361021:L345P	.	L	+	2	0	PTEN	89715031	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.661000	0.83786	2.055000	0.61198	0.482000	0.46254	CTG		PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
PDCD11	22984	hgsc.bcm.edu	37	10	105202056	105202056	+	Silent	SNP	T	T	C			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr10:105202056T>C	ENST00000369797.3	+	32	4888	c.4794T>C	c.(4792-4794)ccT>ccC	p.P1598P		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1598					mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		TGATGGATCCTGGGCGGCAGC	0.547																																																	0			10											97.0	98.0	97.0					10																	105202056		2203	4300	6503	105192046	SO:0001819	synonymous_variant	22984			D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.4794T>C	10.37:g.105202056T>C		Somatic		Capture	Illumina HiSeq	Phase_I	105192046	Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Silent	SNP	ENST00000369797.3	37	CCDS31276.1																																																																																				PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1		
PDCD11	22984	hgsc.bcm.edu	37	10	105203740	105203740	+	Silent	SNP	C	C	T			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr10:105203740C>T	ENST00000369797.3	+	34	5287	c.5193C>T	c.(5191-5193)taC>taT	p.Y1731Y		NM_014976.1	NP_055791.1	Q14690	RRP5_HUMAN	programmed cell death 11	1731					mRNA processing (GO:0006397)|rRNA processing (GO:0006364)	cytosol (GO:0005829)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|transcription factor binding (GO:0008134)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|lung(29)|ovary(2)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	64		Colorectal(252;0.0747)|Breast(234;0.128)		Epithelial(162;7.21e-09)|all cancers(201;1.17e-08)|BRCA - Breast invasive adenocarcinoma(275;0.208)		GGATCAAATACGGCGCCTTCC	0.602																																																	0			10											71.0	70.0	70.0					10																	105203740		2203	4300	6503	105193730	SO:0001819	synonymous_variant	22984			D80007	CCDS31276.1	10q24.32	2010-07-06			ENSG00000148843	ENSG00000148843			13408	protein-coding gene	gene with protein product		612333				10229231	Standard	XM_005269647		Approved	KIAA0185, ALG-4, RRP5	uc001kwy.1	Q14690	OTTHUMG00000018988	ENST00000369797.3:c.5193C>T	10.37:g.105203740C>T		Somatic		Capture	Illumina HiSeq	Phase_I	105193730	Q2TA92|Q5W093|Q6P2J3|Q86VQ8|Q9H4P1	Silent	SNP	ENST00000369797.3	37	CCDS31276.1																																																																																				PDCD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050151.1		
C5orf42	65250	hgsc.bcm.edu	37	5	37198855	37198855	+	Silent	SNP	T	T	C			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr5:37198855T>C	ENST00000508244.1	-	19	3714	c.3621A>G	c.(3619-3621)gtA>gtG	p.V1207V	C5orf42_ENST00000425232.2_Silent_p.V1207V|C5orf42_ENST00000274258.7_Silent_p.V88V			Q9H799	CE042_HUMAN	chromosome 5 open reading frame 42	1207						integral component of membrane (GO:0016021)		p.V88V(1)		breast(5)|endometrium(3)|kidney(8)|large_intestine(24)|lung(28)|ovary(4)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	79	all_lung(31;0.000616)		COAD - Colon adenocarcinoma(61;0.14)|Epithelial(62;0.177)|Colorectal(62;0.202)			ACCACTGTGCTACAGGAAAAG	0.403																																																	1	Substitution - coding silent(1)	ovary(1)	5											94.0	96.0	95.0					5																	37198855		2203	4300	6503	37234612	SO:0001819	synonymous_variant	65250				CCDS34146.1, CCDS34146.2	5p13.2	2014-01-28			ENSG00000197603	ENSG00000197603			25801	protein-coding gene	gene with protein product		614571				22264561	Standard	NM_023073		Approved	FLJ13231, JBTS17	uc011cpa.1	Q9H799	OTTHUMG00000160492	ENST00000508244.1:c.3621A>G	5.37:g.37198855T>C		Somatic		Capture	Illumina HiSeq	Phase_I	37234612	A8MUB7|B7ZLV7|Q4G174|Q6DK46|Q8N8L4|Q9H5T1|Q9H8T9	Silent	SNP	ENST00000508244.1	37	CCDS34146.2																																																																																				C5orf42-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360806.1	NM_023073	
MAST4	375449	hgsc.bcm.edu	37	5	66438283	66438283	+	Missense_Mutation	SNP	G	G	T	rs544939743		TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr5:66438283G>T	ENST00000403625.2	+	21	2947	c.2652G>T	c.(2650-2652)gaG>gaT	p.E884D	MAST4_ENST00000403666.1_Missense_Mutation_p.E695D|MAST4_ENST00000261569.7_Missense_Mutation_p.E690D|MAST4_ENST00000405643.1_Missense_Mutation_p.E705D|MAST4_ENST00000404260.3_Missense_Mutation_p.E887D	NM_001164664.1	NP_001158136.1	O15021	MAST4_HUMAN	microtubule associated serine/threonine kinase family member 4	887	AGC-kinase C-terminal.					cytoplasm (GO:0005737)	ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|kidney(2)|lung(6)|ovary(2)	13		Lung NSC(167;8.56e-06)|Prostate(74;0.00637)|Ovarian(174;0.0563)|Breast(144;0.0586)|Colorectal(97;0.245)		Lung(70;0.011)		TGGAAACGGAGGAAGAAGATG	0.348																																																	0			5											63.0	62.0	62.0					5																	66438283		1906	4118	6024	66474039	SO:0001583	missense	375449			AY830839	CCDS47224.1, CCDS47225.1, CCDS54861.1, CCDS75254.1	5q12.3	2007-06-20			ENSG00000069020	ENSG00000069020			19037	protein-coding gene	gene with protein product						9205841	Standard	NM_198828		Approved	KIAA0303	uc021xzk.1	O15021	OTTHUMG00000152471	ENST00000403625.2:c.2652G>T	5.37:g.66438283G>T	ENSP00000385727:p.Glu884Asp	Somatic		Capture	Illumina HiSeq	Phase_I	66474039	A6NL49|B5ME48|Q05EE6|Q6ZN07|Q8N4X4|Q96LY3	Missense_Mutation	SNP	ENST00000403625.2	37	CCDS54861.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	12.39|12.39	1.923377|1.923377	0.33908|0.33908	.|.	.|.	ENSG00000069020|ENSG00000069020	ENST00000404260;ENST00000403625;ENST00000403666;ENST00000405643;ENST00000380908;ENST00000261569;ENST00000432399|ENST00000443808	T;T;T;T;T|.	0.25085|.	1.82;1.82;1.82;1.82;1.82|.	5.71|5.71	-1.03|-1.03	0.10102|0.10102	AGC-kinase, C-terminal (2);Protein kinase-like domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.50000|.	0.1590|.	L|L	0.32530|0.32530	0.975|0.975	0.41011|0.41011	D|D	0.985008|0.985008	B;B;B;B|.	0.23185|.	0.014;0.014;0.081;0.023|.	B;B;B;B|.	0.22601|.	0.028;0.018;0.04;0.021|.	T|.	0.39881|.	-0.9592|.	10|.	0.37606|.	T|.	0.19|.	-31.9782|-31.9782	12.333|12.333	0.55049|0.55049	0.5287:0.0:0.4713:0.0|0.5287:0.0:0.4713:0.0	.|.	705;887;690;695|.	E7EWQ5;O15021;O15021-2;O15021-3|.	.;MAST4_HUMAN;.;.|.	D|X	887;884;695;705;705;690;690|8	ENSP00000385048:E887D;ENSP00000385727:E884D;ENSP00000384313:E695D;ENSP00000384099:E705D;ENSP00000261569:E690D|.	ENSP00000261569:E690D|.	E|G	+|+	3|1	2|0	MAST4|MAST4	66474039|66474039	1.000000|1.000000	0.71417|0.71417	0.949000|0.949000	0.38748|0.38748	0.743000|0.743000	0.42351|0.42351	1.779000|1.779000	0.38624|0.38624	-0.117000|-0.117000	0.11872|0.11872	-0.192000|-0.192000	0.12808|0.12808	GAG|GGA		MAST4-001	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000326324.2		
THBS4	7060	hgsc.bcm.edu	37	5	79336091	79336091	+	Missense_Mutation	SNP	C	C	T	rs200373343		TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr5:79336091C>T	ENST00000350881.2	+	2	470	c.280C>T	c.(280-282)Cgc>Tgc	p.R94C	THBS4_ENST00000511733.1_Missense_Mutation_p.R3C	NM_003248.4	NP_003239.2	P35443	TSP4_HUMAN	thrombospondin 4	94	Laminin G-like.				behavioral response to pain (GO:0048266)|endothelial cell-cell adhesion (GO:0071603)|myoblast migration (GO:0051451)|negative regulation of angiogenesis (GO:0016525)|positive regulation of cell division (GO:0051781)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|regulation of tissue remodeling (GO:0034103)|response to endoplasmic reticulum stress (GO:0034976)|response to unfolded protein (GO:0006986)|tissue remodeling (GO:0048771)	basement membrane (GO:0005604)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|sarcoplasmic reticulum (GO:0016529)	calcium ion binding (GO:0005509)|heparin binding (GO:0008201)|integrin binding (GO:0005178)			breast(1)|endometrium(4)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|stomach(3)	34		Lung NSC(167;0.00328)|all_lung(232;0.00355)|Ovarian(174;0.0261)		OV - Ovarian serous cystadenocarcinoma(54;6.3e-45)|Epithelial(54;1.77e-39)|all cancers(79;3.2e-34)		TGTGATGGGACGCTTAAACAA	0.358																																																	0			5						C	CYS/ARG	0,4406		0,0,2203	32.0	33.0	32.0		280	5.5	1.0	5		32	1,8599	1.2+/-3.3	0,1,4299	yes	missense	THBS4	NM_003248.4	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	94/962	79336091	1,13005	2203	4300	6503	79371847	SO:0001583	missense	7060				CCDS4049.1	5q13	2008-05-15			ENSG00000113296	ENSG00000113296			11788	protein-coding gene	gene with protein product		600715				7852353	Standard	NM_003248		Approved		uc021yaw.1	P35443	OTTHUMG00000108173	ENST00000350881.2:c.280C>T	5.37:g.79336091C>T	ENSP00000339730:p.Arg94Cys	Somatic		Capture	Illumina HiSeq	Phase_I	79371847	B2R909|Q86TG2	Missense_Mutation	SNP	ENST00000350881.2	37	CCDS4049.1	.	.	.	.	.	.	.	.	.	.	C	20.2	3.944247	0.73672	0.0	1.16E-4	ENSG00000113296	ENST00000350881;ENST00000511733	T;D	0.87729	4.38;-2.29	5.5	5.5	0.81552	Concanavalin A-like lectin/glucanase (1);Laminin G, thrombospondin-type, N-terminal (1);	0.055762	0.64402	D	0.000001	D	0.92341	0.7570	L	0.57536	1.79	0.54753	D	0.999986	D	0.89917	1.0	D	0.79784	0.993	D	0.92874	0.6317	10	0.87932	D	0	-22.2117	18.167	0.89731	0.0:1.0:0.0:0.0	.	94	P35443	TSP4_HUMAN	C	94;3	ENSP00000339730:R94C;ENSP00000422298:R3C	ENSP00000339730:R94C	R	+	1	0	THBS4	79371847	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.285000	0.58989	2.573000	0.86826	0.544000	0.68410	CGC		THBS4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226977.1		
APC	324	hgsc.bcm.edu	37	5	112173917	112173917	+	Nonsense_Mutation	SNP	C	C	T	rs121913333		TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr5:112173917C>T	ENST00000457016.1	+	16	3006	c.2626C>T	c.(2626-2628)Cga>Tga	p.R876*	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Nonsense_Mutation_p.R876*|APC_ENST00000508376.2_Nonsense_Mutation_p.R876*			P25054	APC_HUMAN	adenomatous polyposis coli	876	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.R876*(38)|p.S874_R876>*(1)|p.?(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TTCTTCAAAGCGAGGTTTGCA	0.463		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	40	Substitution - Nonsense(38)|Unknown(1)|Complex - deletion inframe(1)	large_intestine(37)|lung(1)|breast(1)|skin(1)	5	GRCh37	CM942020	APC	M	rs121913333						70.0	72.0	71.0					5																	112173917		2202	4300	6502	112201816	SO:0001587	stop_gained	324	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.2626C>T	5.37:g.112173917C>T	ENSP00000413133:p.Arg876*	Somatic		Capture	Illumina HiSeq	Phase_I	112201816	D3DT03|Q15162|Q15163|Q93042	Nonsense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	C	37	6.588996	0.97688	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	.	.	.	5.92	4.09	0.47781	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.2738	14.8639	0.70401	0.3912:0.6088:0.0:0.0	.	.	.	.	X	876;858;876;876;876	.	ENSP00000257430:R876X	R	+	1	2	APC	112201816	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	1.385000	0.34408	0.785000	0.33685	0.557000	0.71058	CGA		APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
APC	324	hgsc.bcm.edu	37	5	112175594	112175594	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr5:112175594A>G	ENST00000457016.1	+	16	4683	c.4303A>G	c.(4303-4305)Aga>Gga	p.R1435G	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Missense_Mutation_p.R1435G|APC_ENST00000508376.2_Missense_Mutation_p.R1435G			P25054	APC_HUMAN	adenomatous polyposis coli	1435	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.R1435*(3)|p.R1435fs*38(1)|p.?(1)|p.P1424fs*19(1)|p.K1192fs*3(1)|p.P1432fs*35(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		GCCACCAAGCAGAAGTAAAAC	0.478		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	8	Deletion - Frameshift(4)|Substitution - Nonsense(3)|Unknown(1)	large_intestine(6)|soft_tissue(1)|skin(1)	5											114.0	102.0	106.0					5																	112175594		2202	4300	6502	112203493	SO:0001583	missense	324	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.4303A>G	5.37:g.112175594A>G	ENSP00000413133:p.Arg1435Gly	Somatic		Capture	Illumina HiSeq	Phase_I	112203493	D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	A	18.68	3.675982	0.67928	.	.	ENSG00000134982	ENST00000457016;ENST00000257430;ENST00000508376	D;D;D	0.91631	-2.88;-2.88;-2.88	6.07	6.07	0.98685	.	0.000000	0.85682	D	0.000000	D	0.95204	0.8445	M	0.64404	1.975	0.58432	D	0.999999	D;D	0.76494	0.999;0.999	D;D	0.78314	0.991;0.991	D	0.94696	0.7878	9	.	.	.	-26.4321	16.6288	0.85011	1.0:0.0:0.0:0.0	.	1437;1435	Q4LE70;P25054	.;APC_HUMAN	G	1435	ENSP00000413133:R1435G;ENSP00000257430:R1435G;ENSP00000427089:R1435G	.	R	+	1	2	APC	112203493	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.608000	0.74168	2.326000	0.78906	0.533000	0.62120	AGA		APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
TGFBI	7045	hgsc.bcm.edu	37	5	135383085	135383085	+	Silent	SNP	C	C	T			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr5:135383085C>T	ENST00000442011.2	+	6	908	c.747C>T	c.(745-747)atC>atT	p.I249I	TGFBI_ENST00000305126.8_Silent_p.I249I	NM_000358.2	NP_000349.1	Q15582	BGH3_HUMAN	transforming growth factor, beta-induced, 68kDa	249	FAS1 2. {ECO:0000255|PROSITE- ProRule:PRU00082}.				angiogenesis (GO:0001525)|cell adhesion (GO:0007155)|cell proliferation (GO:0008283)|chondrocyte differentiation (GO:0002062)|extracellular matrix organization (GO:0030198)|negative regulation of cell adhesion (GO:0007162)|response to stimulus (GO:0050896)|visual perception (GO:0007601)	basement membrane (GO:0005604)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	collagen binding (GO:0005518)|extracellular matrix binding (GO:0050840)|integrin binding (GO:0005178)			breast(6)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(2)|lung(8)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	32			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0233)			TCATTGAGATCGAGGACACCT	0.572																																																	0			5											240.0	236.0	238.0					5																	135383085		2108	4214	6322	135410984	SO:0001819	synonymous_variant	7045			M77349	CCDS47266.1	5q31	2008-02-05	2002-08-29		ENSG00000120708	ENSG00000120708			11771	protein-coding gene	gene with protein product		601692	"""transforming growth factor, beta-induced, 68kD"""	CSD3, LCD1, CSD1, CSD2		9463327	Standard	NM_000358		Approved	BIGH3, CDB1, CDGG1	uc003lbf.4	Q15582	OTTHUMG00000163213	ENST00000442011.2:c.747C>T	5.37:g.135383085C>T		Somatic		Capture	Illumina HiSeq	Phase_I	135410984	D3DQB1|O14471|O14472|O14476|O43216|O43217|O43218|O43219|Q53XM1	Silent	SNP	ENST00000442011.2	37	CCDS47266.1	.	.	.	.	.	.	.	.	.	.	C	9.305	1.054134	0.19907	.	.	ENSG00000120708	ENST00000508767	.	.	.	6.0	-5.07	0.02938	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-30.0916	10.9106	0.47106	0.0905:0.2391:0.0:0.6704	.	.	.	.	X	25	.	.	R	+	1	2	TGFBI	135410984	0.000000	0.05858	0.811000	0.32455	0.894000	0.52154	-2.839000	0.00738	-0.987000	0.03494	-1.060000	0.02296	CGA		TGFBI-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372108.1		
DNAJC18	202052	hgsc.bcm.edu	37	5	138760697	138760697	+	Silent	SNP	A	A	G			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr5:138760697A>G	ENST00000302060.5	-	5	746	c.666T>C	c.(664-666)ccT>ccC	p.P222P		NM_152686.3	NP_689899.1	Q9H819	DJC18_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 18	222						integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TAGGTACCTGAGGTTTCTCTT	0.458																																																	0			5											257.0	220.0	233.0					5																	138760697		2203	4300	6503	138788596	SO:0001819	synonymous_variant	202052			AK024054	CCDS4214.1	5q31.2	2011-09-02		2005-08-09	ENSG00000170464	ENSG00000170464		"""Heat shock proteins / DNAJ (HSP40)"""	28429	protein-coding gene	gene with protein product							Standard	NM_152686		Approved	MGC29463	uc003len.3	Q9H819	OTTHUMG00000129225	ENST00000302060.5:c.666T>C	5.37:g.138760697A>G		Somatic		Capture	Illumina HiSeq	Phase_I	138788596		Silent	SNP	ENST00000302060.5	37	CCDS4214.1	.	.	.	.	.	.	.	.	.	.	A	9.821	1.185669	0.21870	.	.	ENSG00000170464	ENST00000514052	.	.	.	5.72	3.28	0.37604	.	.	.	.	.	T	0.53012	0.1770	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.43605	-0.9381	4	.	.	.	-4.4335	4.5204	0.11956	0.6181:0.0:0.0817:0.3001	.	.	.	.	P	14	.	.	L	-	2	0	DNAJC18	138788596	0.999000	0.42202	1.000000	0.80357	0.797000	0.45037	0.555000	0.23422	0.413000	0.25759	0.460000	0.39030	CTC		DNAJC18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374191.1	NM_152686	
PCDHB13	56123	hgsc.bcm.edu	37	5	140594465	140594465	+	Missense_Mutation	SNP	C	C	T			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr5:140594465C>T	ENST00000341948.4	+	1	957	c.770C>T	c.(769-771)cCg>cTg	p.P257L		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	257	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GAGGACAGTCCGGTAGGCTTC	0.493																																																	0			5											176.0	174.0	175.0					5																	140594465		2203	4300	6503	140574649	SO:0001583	missense	56123			AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"""Cadherins / Protocadherins : Clustered"""	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.770C>T	5.37:g.140594465C>T	ENSP00000345491:p.Pro257Leu	Somatic		Capture	Illumina HiSeq	Phase_I	140574649	A8K9V6	Missense_Mutation	SNP	ENST00000341948.4	37	CCDS4255.1	.	.	.	.	.	.	.	.	.	.	c	16.56	3.158181	0.57368	.	.	ENSG00000187372	ENST00000341948;ENST00000430318;ENST00000419217	T	0.01685	4.69	3.51	3.51	0.40186	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.06005	0.0156	M	0.66297	2.02	0.20307	N	0.999919	P	0.42375	0.778	P	0.49012	0.598	T	0.09100	-1.0690	9	0.66056	D	0.02	.	15.0392	0.71774	0.0:1.0:0.0:0.0	.	257	Q9Y5F0	PCDBD_HUMAN	L	257	ENSP00000345491:P257L	ENSP00000345491:P257L	P	+	2	0	PCDHB13	140574649	0.000000	0.05858	0.014000	0.15608	0.727000	0.41649	0.906000	0.28517	1.675000	0.50919	0.306000	0.20318	CCG		PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1	NM_018933	
NR3C1	2908	hgsc.bcm.edu	37	5	142661473	142661473	+	Missense_Mutation	SNP	A	A	G			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr5:142661473A>G	ENST00000343796.2	-	9	3308	c.2315T>C	c.(2314-2316)cTt>cCt	p.L772P	NR3C1_ENST00000504572.1_Missense_Mutation_p.L773P|NR3C1_ENST00000416954.2_Missense_Mutation_p.L375P|NR3C1_ENST00000424646.2_Missense_Mutation_p.L746P|NR3C1_ENST00000503201.1_Missense_Mutation_p.L772P|NR3C1_ENST00000231509.3_Missense_Mutation_p.L773P|NR3C1_ENST00000415690.2_Intron|NR3C1_ENST00000394466.2_Missense_Mutation_p.L773P|NR3C1_ENST00000394464.2_Missense_Mutation_p.L772P	NM_001018074.1|NM_001018075.1|NM_001018077.1	NP_001018084.1|NP_001018085.1|NP_001018087.1	P04150	GCR_HUMAN	nuclear receptor subfamily 3, group C, member 1 (glucocorticoid receptor)	772	Interaction with CLOCK.|Steroid-binding.				adrenal gland development (GO:0030325)|chromatin modification (GO:0016568)|gene expression (GO:0010467)|glucocorticoid metabolic process (GO:0008211)|mammary gland duct morphogenesis (GO:0060603)|negative regulation of glucocorticoid mediated signaling pathway (GO:1900170)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of glucocorticoid biosynthetic process (GO:0031946)|regulation of gluconeogenesis (GO:0006111)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	glucocorticoid receptor activity (GO:0004883)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid binding (GO:0005496)|zinc ion binding (GO:0008270)	p.L773P(1)		breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(10)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	35		Acute lymphoblastic leukemia(2;3.2e-05)|all_hematologic(2;0.000361)	KIRC - Kidney renal clear cell carcinoma(527;0.00111)|Kidney(363;0.00176)		Alclometasone(DB00240)|Amcinonide(DB00288)|Beclomethasone(DB00394)|Betamethasone(DB00443)|Budesonide(DB01222)|Ciclesonide(DB01410)|Clobetasol propionate(DB01013)|Clocortolone(DB00838)|Cortisone acetate(DB01380)|Desonide(DB01260)|Desoximetasone(DB00547)|Dexamethasone(DB01234)|Diflorasone(DB00223)|Difluprednate(DB06781)|Fludrocortisone(DB00687)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Fluoxymesterone(DB01185)|Flurandrenolide(DB00846)|Fluticasone furoate(DB08906)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Hydrocortamate(DB00769)|Hydrocortisone(DB00741)|Loteprednol(DB00873)|Medrysone(DB00253)|Megestrol acetate(DB00351)|Methylprednisolone(DB00959)|Mifepristone(DB00834)|Mometasone(DB00764)|Paramethasone(DB01384)|Prednicarbate(DB01130)|Prednisolone(DB00860)|Prednisone(DB00635)|Rimexolone(DB00896)|Spironolactone(DB00421)|Triamcinolone(DB00620)	ATGAAACAGAAGTTTTTTGAT	0.318																																																	1	Substitution - Missense(1)	ovary(1)	5											87.0	90.0	89.0					5																	142661473		2202	4300	6502	142641666	SO:0001583	missense	2908			X03225	CCDS4278.1, CCDS34258.1, CCDS47298.1	5q31-q32	2013-01-16	2002-08-27		ENSG00000113580	ENSG00000113580		"""Nuclear hormone receptors"""	7978	protein-coding gene	gene with protein product		138040	"""nuclear receptor subfamily 3, group C, member 1"""	GRL		2867473	Standard	NM_001204258		Approved	GR	uc003lnb.3	P04150	OTTHUMG00000129677	ENST00000343796.2:c.2315T>C	5.37:g.142661473A>G	ENSP00000343205:p.Leu772Pro	Somatic		Capture	Illumina HiSeq	Phase_I	142641666	A0ZXF9|B0LPG8|D3DQF4|P04151|Q53EP5|Q6N0A4	Missense_Mutation	SNP	ENST00000343796.2	37	CCDS4278.1	.	.	.	.	.	.	.	.	.	.	A	18.30	3.593056	0.66219	.	.	ENSG00000113580	ENST00000394464;ENST00000343796;ENST00000361001;ENST00000424646;ENST00000504572;ENST00000394466;ENST00000231509;ENST00000416954;ENST00000503201	D;D;D;D;D;D;D;D	0.95690	-3.78;-3.78;-3.78;-3.78;-3.78;-3.78;-3.78;-3.78	5.93	5.93	0.95920	Nuclear hormone receptor, ligand-binding (1);	0.000000	0.85682	D	0.000000	D	0.97300	0.9117	M	0.68317	2.08	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	D	0.97948	1.0330	10	0.87932	D	0	.	16.3943	0.83563	1.0:0.0:0.0:0.0	.	772;773	P04150;E5KQF6	GCR_HUMAN;.	P	772;772;588;746;773;773;773;375;772	ENSP00000377977:L772P;ENSP00000343205:L772P;ENSP00000405282:L746P;ENSP00000422518:L773P;ENSP00000377979:L773P;ENSP00000231509:L773P;ENSP00000404218:L375P;ENSP00000427672:L772P	ENSP00000231509:L773P	L	-	2	0	NR3C1	142641666	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.339000	0.96797	2.281000	0.76405	0.533000	0.62120	CTT		NR3C1-201	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000370829.1		
HK3	3101	hgsc.bcm.edu	37	5	176308808	176308808	+	Missense_Mutation	SNP	C	C	T			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr5:176308808C>T	ENST00000292432.5	-	17	2369	c.2278G>A	c.(2278-2280)Gtc>Atc	p.V760I		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	760	Catalytic.|Hexokinase type-2 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|cellular glucose homeostasis (GO:0001678)|glucose 6-phosphate metabolic process (GO:0051156)|glucose transport (GO:0015758)|glycolytic process (GO:0006096)|hexose metabolic process (GO:0019318)|hexose transport (GO:0008645)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)	cytosol (GO:0005829)|mitochondrion (GO:0005739)|protein complex (GO:0043234)	ATP binding (GO:0005524)|fructokinase activity (GO:0008865)|glucokinase activity (GO:0004340)|hexokinase activity (GO:0004396)|hormone binding (GO:0042562)|mannokinase activity (GO:0019158)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(21)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	47	all_cancers(89;0.000104)|Renal(175;0.000269)|Lung NSC(126;0.00696)|all_lung(126;0.0115)	Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			ATGTGGCGGACGATCTCCCCC	0.562																																																	0			5											109.0	113.0	112.0					5																	176308808		2203	4300	6503	176241414	SO:0001583	missense	84376				CCDS4407.1	5q35.2	2008-02-05			ENSG00000160883	ENSG00000160883	2.7.1.1		4925	protein-coding gene	gene with protein product		142570				8812439	Standard	NM_002115		Approved		uc003mfa.3	P52790	OTTHUMG00000130855	ENST00000292432.5:c.2278G>A	5.37:g.176308808C>T	ENSP00000292432:p.Val760Ile	Somatic		Capture	Illumina HiSeq	Phase_I	176241414	Q8N1E7	Missense_Mutation	SNP	ENST00000292432.5	37	CCDS4407.1	.	.	.	.	.	.	.	.	.	.	C	33	5.206114	0.95033	.	.	ENSG00000160883	ENST00000292432	D	0.97016	-4.21	4.82	4.82	0.62117	Hexokinase, C-terminal (1);	0.000000	0.48286	D	0.000194	D	0.98264	0.9425	M	0.91459	3.21	0.80722	D	1	D	0.63880	0.993	P	0.60949	0.881	D	0.99239	1.0884	10	0.87932	D	0	.	18.0642	0.89386	0.0:1.0:0.0:0.0	.	760	P52790	HXK3_HUMAN	I	760	ENSP00000292432:V760I	ENSP00000292432:V760I	V	-	1	0	HK3	176241414	1.000000	0.71417	0.977000	0.42913	0.780000	0.44128	7.651000	0.83577	2.657000	0.90304	0.561000	0.74099	GTC		HK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253428.1		
RNF130	55819	hgsc.bcm.edu	37	5	179405233	179405233	+	Missense_Mutation	SNP	T	T	A			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr5:179405233T>A	ENST00000261947.4	-	5	1216	c.818A>T	c.(817-819)cAg>cTg	p.Q273L	RNF130_ENST00000522208.2_Missense_Mutation_p.Q273L|RNF130_ENST00000521389.1_Missense_Mutation_p.Q273L	NM_001280801.1	NP_001267730.1			ring finger protein 130											breast(2)|kidney(1)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(2)	17	all_cancers(89;5.49e-05)|all_epithelial(37;1.94e-05)|Renal(175;0.000159)|Lung NSC(126;0.00118)|all_lung(126;0.00212)	all_cancers(40;0.0294)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GACATCATTCTGCTTATAGCT	0.393																																					GBM(24;432 554 38471 39699 51728)												0			5											140.0	123.0	129.0					5																	179405233		2203	4300	6503	179337839	SO:0001583	missense	55819			AF155650	CCDS4451.1, CCDS64340.1	5q35.3	2013-01-09			ENSG00000113269	ENSG00000113269		"""RING-type (C3HC4) zinc fingers"""	18280	protein-coding gene	gene with protein product						10806348	Standard	NM_018434		Approved	GP, G1RZFP, GOLIATH	uc003mll.1	Q86XS8	OTTHUMG00000130909	ENST00000261947.4:c.818A>T	5.37:g.179405233T>A	ENSP00000261947:p.Gln273Leu	Somatic		Capture	Illumina HiSeq	Phase_I	179337839		Missense_Mutation	SNP	ENST00000261947.4	37		.	.	.	.	.	.	.	.	.	.	T	13.41	2.229025	0.39399	.	.	ENSG00000113269	ENST00000522208;ENST00000521389;ENST00000261947	T;T;T	0.42900	0.96;0.96;0.96	5.65	4.45	0.53987	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, RING-H2-type (1);	0.064398	0.64402	D	0.000005	T	0.24624	0.0597	N	0.05592	-0.015	0.44424	D	0.997341	B;B	0.06786	0.001;0.001	B;B	0.14023	0.01;0.001	T	0.03221	-1.1059	10	0.40728	T	0.16	.	12.7151	0.57111	0.0:0.0:0.1377:0.8623	.	290;273	Q59EL1;Q86XS8	.;GOLI_HUMAN	L	273	ENSP00000429509:Q273L;ENSP00000430237:Q273L;ENSP00000261947:Q273L	ENSP00000261947:Q273L	Q	-	2	0	RNF130	179337839	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	2.681000	0.46926	1.030000	0.39839	0.459000	0.35465	CAG		RNF130-003	PUTATIVE	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000374205.1	NM_018434	
SCN11A	11280	hgsc.bcm.edu	37	3	38968293	38968293	+	Splice_Site	SNP	C	C	T			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr3:38968293C>T	ENST00000302328.3	-	4	816		c.e4+1		SCN11A_ENST00000456224.3_Splice_Site|SCN11A_ENST00000444237.2_Splice_Site|SCN11A_ENST00000450244.1_Splice_Site	NM_014139.2	NP_054858.2	Q9UI33	SCNBA_HUMAN	sodium channel, voltage-gated, type XI, alpha subunit						cell death (GO:0008219)|membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|regulation of sensory perception of pain (GO:0051930)|response to drug (GO:0042493)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	C-fiber (GO:0044299)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(3)|biliary_tract(1)|breast(4)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(29)|lung(29)|ovary(3)|pancreas(2)|prostate(12)|skin(14)|upper_aerodigestive_tract(5)|urinary_tract(3)	119				Kidney(284;0.00202)|KIRC - Kidney renal clear cell carcinoma(284;0.00226)	Cocaine(DB00907)|Valproic Acid(DB00313)|Zonisamide(DB00909)	AATATTCTTACGCTATTCCAA	0.413																																																	0			3											113.0	123.0	120.0					3																	38968293		2203	4300	6503	38943297	SO:0001630	splice_region_variant	11280			AF126739	CCDS33737.1	3p22.2	2012-02-26	2007-01-23		ENSG00000168356	ENSG00000168356		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10583	protein-coding gene	gene with protein product		604385	"""sodium channel, voltage-gated, type XI, alpha polypeptide"", ""sodium channel, voltage-gated, type XII, alpha"""	SCN12A		10444332, 16382098	Standard	NM_014139		Approved	Nav1.9, NaN, SNS-2	uc021wvy.1	Q9UI33	OTTHUMG00000048246	ENST00000302328.3:c.617+1G>A	3.37:g.38968293C>T		Somatic		Capture	Illumina HiSeq	Phase_I	38943297	A6NN05|C9JD48|C9JR31|Q68K15|Q8NDX3|Q9UHE0|Q9UHM0	Splice_Site	SNP	ENST00000302328.3	37	CCDS33737.1	.	.	.	.	.	.	.	.	.	.	C	27.3	4.818147	0.90790	.	.	ENSG00000168356	ENST00000302328;ENST00000450244;ENST00000456224;ENST00000444237	.	.	.	5.64	5.64	0.86602	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.1906	0.86878	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SCN11A	38943297	1.000000	0.71417	1.000000	0.80357	0.968000	0.65278	7.468000	0.80943	2.658000	0.90341	0.563000	0.77884	.		SCN11A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109746.4	NM_014139	Intron
CYP4Z1	199974	hgsc.bcm.edu	37	1	47582359	47582359	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr1:47582359delA	ENST00000334194.3	+	11	1307	c.1304delA	c.(1303-1305)gaafs	p.E435fs	CYP4Z1_ENST00000471598.1_3'UTR|CYP4A22-AS1_ENST00000444042.2_lincRNA	NM_178134.2	NP_835235.1	Q86W10	CP4Z1_HUMAN	cytochrome P450, family 4, subfamily Z, polypeptide 1	435						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	aromatase activity (GO:0070330)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			cervix(1)|large_intestine(4)|lung(4)|skin(1)|stomach(1)	11						GAAAATTCTGAAAAAATACAT	0.423																																																	0			1											77.0	78.0	78.0					1																	47582359		2203	4300	6503	47354946	SO:0001589	frameshift_variant	199974			AY262056	CCDS545.1	1p33	2008-02-05			ENSG00000186160	ENSG00000186160		"""Cytochrome P450s"""	20583	protein-coding gene	gene with protein product						15059886	Standard	NM_178134		Approved	CYP4A20	uc001cqu.1	Q86W10	OTTHUMG00000008019	ENST00000334194.3:c.1304delA	1.37:g.47582359delA	ENSP00000334246:p.Glu435fs	Somatic		Capture	Illumina HiSeq	Phase_I	47354946	Q5VVE4	Frame_Shift_Del	DEL	ENST00000334194.3	37	CCDS545.1																																																																																				CYP4Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022020.1	NM_178134	
LOR	4014	hgsc.bcm.edu	37	1	153233488	153233489	+	In_Frame_Ins	INS	-	-	GGCGGT	rs150026164	byFrequency	TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr1:153233488_153233489insGGCGGT	ENST00000368742.3	+	2	120_121	c.63_64insGGCGGT	c.(64-66)ggc>GGCGGTggc	p.22_22G>GGG		NM_000427.2	NP_000418.2	P23490	LORI_HUMAN	loricrin	22					keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein binding, bridging (GO:0030674)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)	p.G22S(1)		lung(2)	2	all_lung(78;3.35e-32)|Lung NSC(65;1.22e-30)|Hepatocellular(266;0.0877)|all_hematologic(923;0.127)|Melanoma(130;0.242)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGACCTCTggcggcggtggcgg	0.673														971	0.19389	0.3812	0.1542	5008	,	,		8118	0.0685		0.2326	False		,,,				2504	0.0583																1	Substitution - Missense(1)	lung(1)	1								1372,2418		364,644,887						1.9	0.9		dbSNP_130	14	1619,5813		315,989,2412	no	coding	LOR	NM_000427.2		679,1633,3299	A1A1,A1R,RR		21.7842,36.2005,26.653				2991,8231				151500113	SO:0001652	inframe_insertion	4014			M61120	CCDS30870.1	1q21	2008-02-05			ENSG00000203782	ENSG00000203782			6663	protein-coding gene	gene with protein product		152445				2007607, 1355480	Standard	NM_000427		Approved		uc001fbm.3	P23490	OTTHUMG00000013938	ENST00000368742.3:c.70_75dupGGCGGT	1.37:g.153233489_153233494dupGGCGGT	ENSP00000357731:p.GlyGly28dup	Somatic		Capture	Illumina HiSeq	Phase_I	151500112	Q5T869|Q5XKF8	In_Frame_Ins	INS	ENST00000368742.3	37	CCDS30870.1																																																																																				LOR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039107.1	NM_000427	
AIM2	9447	hgsc.bcm.edu	37	1	159032487	159032487	+	Frame_Shift_Del	DEL	T	T	-	rs531843702	byFrequency	TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr1:159032487delT	ENST00000368130.4	-	6	1315	c.1027delA	c.(1027-1029)acafs	p.T343fs		NM_004833.1	NP_004824.1	O14862	AIM2_HUMAN	absent in melanoma 2	343					activation of innate immune response (GO:0002218)|apoptotic process (GO:0006915)|cellular response to drug (GO:0035690)|cellular response to interferon-beta (GO:0035458)|immune response (GO:0006955)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of cysteine-type endopeptidase activity (GO:2001056)|positive regulation of defense response to virus by host (GO:0002230)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of interleukin-1 beta secretion (GO:0050718)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein oligomerization (GO:0032461)|pyroptosis (GO:0070269)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	AIM2 inflammasome complex (GO:0097169)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)			breast(1)|large_intestine(1)|lung(7)|ovary(2)|pancreas(2)|prostate(2)|skin(1)	16	all_hematologic(112;0.0429)					CTTCTCTATGTTTTTTTTTTG	0.398														28	0.00559105	0.0076	0.0043	5008	,	,		19188	0.002		0.003	False		,,,				2504	0.0102																0			1								77,102,4087		0,0,77,0,102,1954	174.0	138.0	150.0			-1.5	0.0	1		158	80,228,7946		0,0,80,0,228,3819	no	codingComplex	AIM2	NM_004833.1		0,0,157,0,330,5773	A1A1,A1A2,A1R,A2A2,A2R,RR		3.7315,4.196,3.8898			159032487	157,330,12033	2203	4300	6503	157299111	SO:0001589	frameshift_variant	9447			AF024714	CCDS1181.1	1q22	2008-07-18			ENSG00000163568	ENSG00000163568			357	protein-coding gene	gene with protein product		604578				9242382	Standard	NM_004833		Approved	PYHIN4	uc001ftj.1	O14862	OTTHUMG00000037183	ENST00000368130.4:c.1027delA	1.37:g.159032487delT	ENSP00000357112:p.Thr343fs	Somatic		Capture	Illumina HiSeq	Phase_I	157299111	A8K7M7|Q5T3V9|Q96FG9	Frame_Shift_Del	DEL	ENST00000368130.4	37	CCDS1181.1																																																																																				AIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090341.1	NM_004833	
ARV1	64801	hgsc.bcm.edu	37	1	231131567	231131567	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr1:231131567delA	ENST00000310256.2	+	4	567	c.510delA	c.(508-510)gcafs	p.A170fs	ARV1_ENST00000497753.1_3'UTR|ARV1_ENST00000366658.2_Frame_Shift_Del_p.A130fs	NM_022786.1	NP_073623.1	Q9H2C2	ARV1_HUMAN	ARV1 homolog (S. cerevisiae)	170					bile acid metabolic process (GO:0008206)|cholesterol transport (GO:0030301)|regulation of cholesterol metabolic process (GO:0090181)|sphingolipid metabolic process (GO:0006665)	integral component of membrane (GO:0016021)				breast(3)|large_intestine(2)|lung(2)	7	Breast(184;0.0871)|Ovarian(103;0.183)	Prostate(94;0.178)		COAD - Colon adenocarcinoma(196;0.211)|Colorectal(1306;0.233)		CCATGACGGCAAAAAAAAAGC	0.383																																																	0			1											81.0	79.0	80.0					1																	231131567		2203	4300	6503	229198190	SO:0001589	frameshift_variant	64801			AF271780	CCDS1589.1	1q42.2	2014-02-03	2006-04-04		ENSG00000173409	ENSG00000173409			29561	protein-coding gene	gene with protein product		611647	"""ARV1 homolog (yeast)"""			11063737, 12145310, 20663892	Standard	NM_022786		Approved		uc001huh.3	Q9H2C2	OTTHUMG00000037837	ENST00000310256.2:c.510delA	1.37:g.231131567delA	ENSP00000312458:p.Ala170fs	Somatic		Capture	Illumina HiSeq	Phase_I	229198190	A8KAI4|Q5VSN7|Q5VSN8|Q5VSN9|Q5VSP0|Q5VSP2|Q9H2H2|Q9H5V6|Q9UFF5	Frame_Shift_Del	DEL	ENST00000310256.2	37	CCDS1589.1																																																																																				ARV1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092362.2	NM_022786	
TMEM247	388946	hgsc.bcm.edu	37	2	46707888	46707888	+	Frame_Shift_Del	DEL	G	G	-			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr2:46707888delG	ENST00000434431.1	+	2	462	c.462delG	c.(460-462)gagfs	p.E154fs		NM_001145051.2	NP_001138523.1	A6NEH6	TM247_HUMAN	transmembrane protein 247	154						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)											TGCAGCAAGAGGCGGCGCCCC	0.682																																																	0			2								59,2867		9,41,1413	15.0	19.0	18.0			1.5	0.0	2	dbSNP_130	19	233,5079		9,215,2432	no	frameshift	LOC388946	NM_001145051.2		18,256,3845	A1A1,A1R,RR		4.3863,2.0164,3.5445			46707888	292,7946	690	1589	2279	46561392	SO:0001589	frameshift_variant	388946				CCDS56117.1	2p21	2012-04-11			ENSG00000187600	ENSG00000187600			42967	protein-coding gene	gene with protein product							Standard	NM_001145051		Approved		uc010yod.3	A6NEH6	OTTHUMG00000153137	ENST00000434431.1:c.462delG	2.37:g.46707888delG	ENSP00000388684:p.Glu154fs	Somatic		Capture	Illumina HiSeq	Phase_I	46561392		Frame_Shift_Del	DEL	ENST00000434431.1	37	CCDS56117.1																																																																																				TMEM247-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329726.1	NM_001145051	
MUC4	4585	hgsc.bcm.edu	37	3	195508202	195508249	+	In_Frame_Del	DEL	CTGAGGAAGGGCTAGTGACAGGAAGAGGCATGGTGTCACCTGTGGATA	CTGAGGAAGGGCTAGTGACAGGAAGAGGCATGGTGTCACCTGTGGATA	-	rs558318316|rs199592227|rs566665732|rs144373027|rs138141889|rs542067128|rs144420167|rs576510701|rs533775458|rs200984123|rs537584428|rs201826718|rs536470139|rs574664481|rs201846606	byFrequency	TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	CTGAGGAAGGGCTAGTGACAGGAAGAGGCATGGTGTCACCTGTGGATA	CTGAGGAAGGGCTAGTGACAGGAAGAGGCATGGTGTCACCTGTGGATA					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr3:195508202_195508249delCTGAGGAAGGGCTAGTGACAGGAAGAGGCATGGTGTCACCTGTGGATA	ENST00000463781.3	-	2	10661_10708	c.10202_10249delTATCCACAGGTGACACCATGCCTCTTCCTGTCACTAGCCCTTCCTCAG	c.(10201-10251)gtatccacaggtgacaccatgcctcttcctgtcactagcccttcctcagca>gca	p.VSTGDTMPLPVTSPSS3401del	MUC4_ENST00000475231.1_In_Frame_Del_p.VSTGDTMPLPVTSPSS3401del|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.V3401A(3)|p.P3408R(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CCTGTGGATGCTGAGGAAGGGCTAGTGACAGGAAGAGGCATGGTGTCACCTGTGGATACTGAGGAAGT	0.585																																																	4	Substitution - Missense(4)	stomach(2)|kidney(1)|endometrium(1)	3							,,	191,3561		48,95,1733					,,	-0.4	0.0			12	700,6748		140,420,3164	no	intron,coding,intron	MUC4	NM_138297.4,NM_018406.6,NM_004532.5	,,	188,515,4897	A1A1,A1R,RR		9.3985,5.0906,7.9554	,,	,,		891,10309				196993028	SO:0001651	inframe_deletion	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.10202_10249delTATCCACAGGTGACACCATGCCTCTTCCTGTCACTAGCCCTTCCTCAG	3.37:g.195508202_195508249delCTGAGGAAGGGCTAGTGACAGGAAGAGGCATGGTGTCACCTGTGGATA	ENSP00000417498:p.Val3401_Ser3416del	Somatic		Capture	Illumina HiSeq	Phase_I	196992981	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	In_Frame_Del	DEL	ENST00000463781.3	37	CCDS54700.1																																																																																				MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
MUC4	4585	hgsc.bcm.edu	37	3	195508490	195508537	+	In_Frame_Del	DEL	CTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	CTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	-	rs534369822|rs199896372|rs568102602|rs531526881|rs62282476|rs201195860|rs545603027|rs541132330|rs200820395|rs150322486|rs201164988|rs141064104|rs540026448|rs148923966|rs113686997|rs146135943|rs549350827|rs202097189|rs574066429|rs374619108	byFrequency	TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	CTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	CTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr3:195508490_195508537delCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	ENST00000463781.3	-	2	10373_10420	c.9914_9961delTATCCACAGGTCACGCCACTCCTCTTCTTGTCACCGACGCTTCCTCAG	c.(9913-9963)gtatccacaggtcacgccactcctcttcttgtcaccgacgcttcctcagca>gca	p.VSTGHATPLLVTDASS3305del	MUC4_ENST00000475231.1_In_Frame_Del_p.VSTGHATPLLVTDASS3305del|MUC4_ENST00000346145.4_Intron|MUC4_ENST00000349607.4_Intron	NM_018406.6	NP_060876.5	Q99102	MUC4_HUMAN	mucin 4, cell surface associated	0					cell-matrix adhesion (GO:0007160)|cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	ErbB-2 class receptor binding (GO:0005176)|extracellular matrix constituent, lubricant activity (GO:0030197)	p.D3317E(2)|p.A3310T(2)|p.H3309D(2)|p.V3305A(1)|p.D3317N(1)|p.V3305_S3336delVSTGHATPLLVTDASSASTGHATPLHVTSPSS(1)|p.L3314P(1)|p.V3305_S3320delVSTGHATPLLVTDASS(1)|p.S3317R(1)		NS(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(5)|lung(23)|ovary(3)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	51	all_cancers(143;1.11e-08)|Ovarian(172;0.0634)|Breast(254;0.206)	Lung NSC(153;0.191)	Epithelial(36;3.72e-24)|all cancers(36;6.22e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.1e-18)|Lung(62;4.65e-05)|LUSC - Lung squamous cell carcinoma(58;5.31e-05)	GBM - Glioblastoma multiforme(46;2.37e-05)		CCTGTGGATGCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATACTGAGGAAGT	0.565																																																	12	Substitution - Missense(10)|Deletion - In frame(2)	stomach(11)|kidney(1)	3							,,	1072,1522		327,418,552					,,	-2.0	0.0		dbSNP_130	14	2388,3868		646,1096,1386	no	intron,coding,intron	MUC4	NM_138297.4,NM_018406.6,NM_004532.5	,,	973,1514,1938	A1A1,A1R,RR		38.1714,41.3261,39.096	,,	,,		3460,5390				196993316	SO:0001651	inframe_deletion	4585			AJ276359	CCDS3310.1, CCDS3311.1, CCDS54700.1	3q29	2007-01-19	2006-03-14		ENSG00000145113	ENSG00000145113		"""Mucins"""	7514	protein-coding gene	gene with protein product		158372	"""mucin 4, tracheobronchial"""			1673336	Standard	NM_004532		Approved		uc021xjp.1	Q99102	OTTHUMG00000151827	ENST00000463781.3:c.9914_9961delTATCCACAGGTCACGCCACTCCTCTTCTTGTCACCGACGCTTCCTCAG	3.37:g.195508490_195508537delCTGAGGAAGCGTCGGTGACAAGAAGAGGAGTGGCGTGACCTGTGGATA	ENSP00000417498:p.Val3305_Ser3320del	Somatic		Capture	Illumina HiSeq	Phase_I	196993269	O95938|Q9GZM2|Q9GZV6|Q9H481|Q9H482|Q9H483|Q9H484|Q9H485|Q9H486|Q9H487|Q9H4D6|Q9H4D8|Q9NPJ0|Q9NY09|Q9NY75|Q9NY76|Q9NY77|Q9NY78|Q9NY79|Q9NY80|Q9NY81	In_Frame_Del	DEL	ENST00000463781.3	37	CCDS54700.1																																																																																				MUC4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324081.6	NM_018406	
ADAM29	11086	hgsc.bcm.edu	37	4	175899072	175899098	+	In_Frame_Del	DEL	TGACACCCTCCCAGAGGCAACCTCAGT	TGACACCCTCCCAGAGGCAACCTCAGT	-	rs140568401|rs141115697|rs61744599|rs137958266|rs538790099|rs199709256|rs146933346|rs151310201	byFrequency	TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	TGACACCCTCCCAGAGGCAACCTCAGT	TGACACCCTCCCAGAGGCAACCTCAGT					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr4:175899072_175899098delTGACACCCTCCCAGAGGCAACCTCAGT	ENST00000359240.3	+	5	3066_3092	c.2396_2422delTGACACCCTCCCAGAGGCAACCTCAGT	c.(2395-2424)gtgacaccctcccagaggcaacctcagttg>gtg	p.TPSQRQPQL800del	ADAM29_ENST00000514159.1_In_Frame_Del_p.TPSQRQPQL800del|ADAM29_ENST00000404450.4_In_Frame_Del_p.TPSQRQPQL800del|RP13-577H12.2_ENST00000507525.1_RNA|ADAM29_ENST00000445694.1_In_Frame_Del_p.TPSQRQPQL800del	NM_001278125.1|NM_014269.4	NP_001265054.1|NP_055084.3	Q9UKF5	ADA29_HUMAN	ADAM metallopeptidase domain 29	800	9 X 9 AA approximate repeats.				spermatogenesis (GO:0007283)	integral component of plasma membrane (GO:0005887)	metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.Q803*(1)		NS(1)|breast(1)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(25)|ovary(3)|pancreas(1)|prostate(7)|skin(24)|urinary_tract(2)	93		Breast(14;0.00908)|Melanoma(52;0.00951)|Prostate(90;0.00996)|Renal(120;0.0183)|all_hematologic(60;0.107)|all_neural(102;0.164)		all cancers(43;3.08e-19)|Epithelial(43;6.24e-18)|OV - Ovarian serous cystadenocarcinoma(60;1.78e-09)|STAD - Stomach adenocarcinoma(60;0.00303)|GBM - Glioblastoma multiforme(59;0.0106)|LUSC - Lung squamous cell carcinoma(193;0.0286)		CAACCTCCTGTGACACCCTCCCAGAGGCAACCTCAGTTGATGCCTTC	0.577																																					Ovarian(140;1727 1835 21805 25838 41440)												1	Substitution - Nonsense(1)	lung(1)	4																																								176135673	SO:0001651	inframe_deletion	11086			AF171929	CCDS3823.1	4q34.1	2012-05-16	2005-08-18		ENSG00000168594	ENSG00000168594		"""ADAM metallopeptidase domain containing"""	207	protein-coding gene	gene with protein product	"""cancer/testis antigen 73"""	604778	"""a disintegrin and metalloproteinase domain 29"""			10644455	Standard	NM_014269		Approved	svph1, CT73	uc031shw.1	Q9UKF5	OTTHUMG00000160764	ENST00000359240.3:c.2396_2422delTGACACCCTCCCAGAGGCAACCTCAGT	4.37:g.175899072_175899098delTGACACCCTCCCAGAGGCAACCTCAGT	ENSP00000352177:p.Thr800_Leu808del	Somatic		Capture	Illumina HiSeq	Phase_I	176135647	Q4W5F3|Q9UHP1|Q9UKF3|Q9UKF4	In_Frame_Del	DEL	ENST00000359240.3	37	CCDS3823.1																																																																																				ADAM29-201	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding			
SLCO6A1	133482	hgsc.bcm.edu	37	5	101748744	101748744	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr5:101748744delA	ENST00000506729.1	-	9	1747	c.1576delT	c.(1576-1578)tctfs	p.S526fs	SLCO6A1_ENST00000379810.1_Frame_Shift_Del_p.S273fs|SLCO6A1_ENST00000513675.1_Frame_Shift_Del_p.S273fs|SLCO6A1_ENST00000379807.3_Frame_Shift_Del_p.S526fs|SLCO6A1_ENST00000389019.3_Frame_Shift_Del_p.S464fs			Q86UG4	SO6A1_HUMAN	solute carrier organic anion transporter family, member 6A1	526	Kazal-like. {ECO:0000255|PROSITE- ProRule:PRU00798}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	transporter activity (GO:0005215)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(17)|lung(22)|ovary(3)|prostate(4)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	60		all_cancers(142;8e-09)|all_epithelial(76;2.83e-12)|Prostate(80;0.00125)|Colorectal(57;0.00342)|Ovarian(225;0.024)|Lung NSC(167;0.0259)|all_lung(232;0.0323)		Epithelial(69;1.47e-15)|COAD - Colon adenocarcinoma(37;0.0113)		AAGCAGGGAGAAAAATATTCA	0.299																																																	0			5											30.0	31.0	30.0					5																	101748744		2199	4296	6495	101776643	SO:0001589	frameshift_variant	133482			AF505657	CCDS34206.1, CCDS75282.1	5q21.2	2013-05-22			ENSG00000205359	ENSG00000205359		"""Solute carriers"""	23613	protein-coding gene	gene with protein product	"""cancer/testis antigen 48"""	613365					Standard	XM_005271874		Approved	OATP6A1, OATPY, MGC26949, CT48	uc003knp.3	Q86UG4	OTTHUMG00000162759	ENST00000506729.1:c.1576delT	5.37:g.101748744delA	ENSP00000421339:p.Ser526fs	Somatic		Capture	Illumina HiSeq	Phase_I	101776643	A6NHC1|Q6ZMY5|Q86UV2|Q8IYU5	Frame_Shift_Del	DEL	ENST00000506729.1	37	CCDS34206.1																																																																																				SLCO6A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370335.1	NM_173488	
APC	324	hgsc.bcm.edu	37	5	112175772	112175772	+	Frame_Shift_Del	DEL	A	A	-			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr5:112175772delA	ENST00000457016.1	+	16	4861	c.4481delA	c.(4480-4482)gaafs	p.E1494fs	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000257430.4_Frame_Shift_Del_p.E1494fs|APC_ENST00000508376.2_Frame_Shift_Del_p.E1494fs			P25054	APC_HUMAN	adenomatous polyposis coli	1494	Ser-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)	p.?(1)|p.K1454fs*3(1)|p.T1493fs*17(1)|p.S1495fs*19(1)|p.K1192fs*3(1)|p.E1494fs*12(1)|p.E1494fs*11(1)		NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TTTGCCACGGAAAGTACTCCA	0.438		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)		yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	adenomatous polyposis of the colon gene		"""E, M, O"""	7	Deletion - Frameshift(3)|Complex - frameshift(2)|Unknown(1)|Insertion - Frameshift(1)	large_intestine(4)|thyroid(1)|soft_tissue(1)|skin(1)	5											70.0	72.0	71.0					5																	112175772		2201	4300	6501	112203671	SO:0001589	frameshift_variant	324	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.4481delA	5.37:g.112175772delA	ENSP00000413133:p.Glu1494fs	Somatic		Capture	Illumina HiSeq	Phase_I	112203671	D3DT03|Q15162|Q15163|Q93042	Frame_Shift_Del	DEL	ENST00000457016.1	37	CCDS4107.1																																																																																				APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
KRTAP5-1	387264	hgsc.bcm.edu	37	11	1606121	1606150	+	In_Frame_Del	DEL	CCACAGCCACCCTTGGATCCCCCACAAGAG	CCACAGCCACCCTTGGATCCCCCACAAGAG	-	rs138363822|rs199501537|rs80025267|rs76191756	byFrequency	TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	CCACAGCCACCCTTGGATCCCCCACAAGAG	CCACAGCCACCCTTGGATCCCCCACAAGAG					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr11:1606121_1606150delCCACAGCCACCCTTGGATCCCCCACAAGAG	ENST00000382171.2	-	1	363_392	c.330_359delCTCTTGTGGGGGATCCAAGGGTGGCTGTGG	c.(328-360)ggctcttgtgggggatccaagggtggctgtggt>ggt	p.110_120GSCGGSKGGCG>G	KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	110	8 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		ACAGCCGGAACCACAGCCACCCTTGGATCCCCCACAAGAGCCACAGCCCC	0.661																																																	0			11								2171,2035		609,953,541						-5.2	0.0			71	4129,4059		1127,1875,1092	no	coding	KRTAP5-1	NM_001005922.1		1736,2828,1633	A1A1,A1R,RR		49.5725,48.3833,49.169				6300,6094				1562726	SO:0001651	inframe_deletion	387264			AB126070	CCDS31330.1	11p15.5	2008-02-05			ENSG00000205869	ENSG00000205869		"""Keratin associated proteins"""	23596	protein-coding gene	gene with protein product		148022	"""keratin, cuticle, ultrahigh sulphur 1-like"""	KRN1L		15144888	Standard	NM_001005922		Approved	KRTAP5.1	uc001ltu.1	Q6L8H4	OTTHUMG00000057557	ENST00000382171.2:c.330_359delCTCTTGTGGGGGATCCAAGGGTGGCTGTGG	11.37:g.1606121_1606150delCCACAGCCACCCTTGGATCCCCCACAAGAG	ENSP00000371606:p.Gly110_Cys119del	Somatic		Capture	Illumina HiSeq	Phase_I	1562697		In_Frame_Del	DEL	ENST00000382171.2	37	CCDS31330.1																																																																																				KRTAP5-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127922.1	NM_001005922	
ESRRA	2101	hgsc.bcm.edu	37	11	64083296	64083298	+	In_Frame_Del	DEL	GGG	GGG	-			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	GGG	GGG					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr11:64083296_64083298delGGG	ENST00000405666.1	+	7	1364_1366	c.1130_1132delGGG	c.(1129-1134)cgggcg>ccg	p.377_378RA>P	PRDX5_ENST00000347941.4_5'Flank|PRDX5_ENST00000265462.4_5'Flank|ESRRA_ENST00000406310.1_In_Frame_Del_p.376_377RA>P|ESRRA_ENST00000000442.6_In_Frame_Del_p.377_378RA>P|PRDX5_ENST00000352435.4_5'Flank	NM_001282450.1	NP_001269379.1	P11474	ERR1_HUMAN	estrogen-related receptor alpha	377	Ligand binding domain.				cartilage development (GO:0051216)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of cell proliferation (GO:0042127)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein domain specific binding (GO:0019904)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|steroid binding (GO:0005496)|steroid hormone receptor activity (GO:0003707)|zinc ion binding (GO:0008270)	p.R377_A378>P(2)		endometrium(1)|kidney(1)|large_intestine(4)|lung(8)	14						GAGCGGCGGCGGGCGGGCAGGCT	0.690																																																	2	Complex - deletion inframe(2)	lung(2)	11								51,3601		5,41,1780						2.3	1.0			19	264,7542		4,256,3643	no	coding	ESRRA	NM_004451.3		9,297,5423	A1A1,A1R,RR		3.382,1.3965,2.7492				315,11143				63839874	SO:0001651	inframe_deletion	2101			X51416, L38487	CCDS41667.1, CCDS60830.1	11q12	2013-01-16			ENSG00000173153	ENSG00000173153		"""Nuclear hormone receptors"""	3471	protein-coding gene	gene with protein product		601998		ESRL1		3267207	Standard	NM_004451		Approved	ERR1, ERRalpha, NR3B1, ERRa	uc001nzq.1	P11474	OTTHUMG00000150641	ENST00000405666.1:c.1130_1132delGGG	11.37:g.64083296_64083298delGGG	ENSP00000384851:p.Arg377_Ala378delinsPro	Somatic		Capture	Illumina HiSeq	Phase_I	63839872	Q14514	In_Frame_Del	DEL	ENST00000405666.1	37	CCDS41667.1																																																																																				ESRRA-003	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000319304.1	NM_004451	
CADM1	23705	hgsc.bcm.edu	37	11	115375030	115375035	+	In_Frame_Del	DEL	AGCCGG	AGCCGG	-	rs147879356	byFrequency	TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	AGCCGG	AGCCGG					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr11:115375030_115375035delAGCCGG	ENST00000452722.3	-	1	98_103	c.78_83delCCGGCT	c.(76-84)ctccggctt>ctt	p.26_28LRL>L	CADM1_ENST00000331581.6_In_Frame_Del_p.26_28LRL>L|CADM1_ENST00000536727.1_In_Frame_Del_p.26_28LRL>L|CADM1_ENST00000537058.1_In_Frame_Del_p.26_28LRL>L|CADM1_ENST00000537140.1_5'UTR|CADM1_ENST00000542447.2_In_Frame_Del_p.26_28LRL>L	NM_014333.3	NP_055148.3			cell adhesion molecule 1											cervix(1)|endometrium(4)|kidney(4)|large_intestine(11)|lung(9)|ovary(2)|skin(1)	32	all_hematologic(175;0.0628)	all_cancers(61;2.98e-14)|all_epithelial(67;2.64e-08)|all_hematologic(158;0.000154)|Melanoma(852;0.000952)|Acute lymphoblastic leukemia(157;0.00101)|Breast(348;0.0102)|Medulloblastoma(222;0.0429)|Prostate(24;0.145)|all_neural(223;0.237)		BRCA - Breast invasive adenocarcinoma(274;5.01e-06)|Epithelial(105;0.000305)|all cancers(92;0.00303)		CAACAGCAGAAGCCGGAGCCGGAGCC	0.694														28	0.00559105	0.0008	0.0101	5008	,	,		12001	0.0		0.0169	False		,,,				2504	0.0031																0			11							,	10,3820		3,4,1908					,	1.3	1.0		dbSNP_134	11	123,7449		13,97,3676	no	coding,coding	CADM1	NM_014333.3,NM_001098517.1	,	16,101,5584	A1A1,A1R,RR		1.6244,0.2611,1.1665	,	,		133,11269				114880245	SO:0001651	inframe_deletion	23705			AB017563	CCDS8373.1, CCDS53711.1, CCDS73397.1, CCDS73398.1, CCDS73399.1	11q23.2	2013-01-29	2007-02-07	2007-02-07	ENSG00000182985	ENSG00000182985		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5951	protein-coding gene	gene with protein product	"""nectin-like 2"""	605686	"""tumor suppressor in lung cancer 1"", ""immunoglobulin superfamily, member 4"""	TSLC1, IGSF4		10610705	Standard	NM_014333		Approved	NECL2, ST17, BL2, SYNCAM, IGSF4A, Necl-2, SYNCAM1, RA175	uc001ppi.4	Q9BY67	OTTHUMG00000168202	ENST00000452722.3:c.78_83delCCGGCT	11.37:g.115375036_115375041delAGCCGG	ENSP00000395359:p.Leu26_Arg27del	Somatic		Capture	Illumina HiSeq	Phase_I	114880240		In_Frame_Del	DEL	ENST00000452722.3	37	CCDS8373.1																																																																																				CADM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000398753.2	NM_014333	
NCOR2	9612	hgsc.bcm.edu	37	12	124824721	124824722	+	In_Frame_Ins	INS	-	-	GCCGCTGCT	rs61519723|rs112797765|rs143952466	byFrequency	TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr12:124824721_124824722insGCCGCTGCT	ENST00000405201.1	-	37	5517_5518	c.5517_5518insAGCAGCGGC	c.(5515-5520)ggcggg>ggcAGCAGCGGCggg	p.1838_1839insGSS	NCOR2_ENST00000356219.3_In_Frame_Ins_p.1845_1846insGSS|NCOR2_ENST00000397355.1_In_Frame_Ins_p.1829_1830insGSS|NCOR2_ENST00000404621.1_In_Frame_Ins_p.1828_1829insGSS|NCOR2_ENST00000404121.2_In_Frame_Ins_p.1399_1400insGSS|NCOR2_ENST00000429285.2_In_Frame_Ins_p.1828_1829insGSS			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	1849					cellular lipid metabolic process (GO:0044255)|gene expression (GO:0010467)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|regulation of cellular ketone metabolic process by negative regulation of transcription from RNA polymerase II promoter (GO:0072365)|small molecule metabolic process (GO:0044281)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)	membrane (GO:0016020)|nuclear body (GO:0016604)|nuclear matrix (GO:0016363)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone deacetylase binding (GO:0042826)|Notch binding (GO:0005112)|protein N-terminus binding (GO:0047485)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(2)|endometrium(7)|kidney(5)|large_intestine(7)|lung(28)|ovary(3)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	69	all_neural(191;0.0804)|Medulloblastoma(191;0.163)			Epithelial(86;3.99e-05)|OV - Ovarian serous cystadenocarcinoma(86;9.14e-05)|all cancers(50;0.000402)|BRCA - Breast invasive adenocarcinoma(302;0.0764)		cccccacccccgccgctgctgc	0.713														4762	0.950879	0.8979	0.9496	5008	,	,		14227	0.9633		0.9672	False		,,,				2504	0.9939																0			12																																								123390675	SO:0001652	inframe_insertion	9612			U37146	CCDS41857.1, CCDS41858.1, CCDS41857.2, CCDS41858.2, CCDS55892.1	12q24	2010-06-10	2010-06-10		ENSG00000196498	ENSG00000196498			7673	protein-coding gene	gene with protein product		600848	"""nuclear receptor co-repressor 2"""			7566127, 8813722	Standard	NM_001077261		Approved	SMRT, SMRTE, TRAC-1, CTG26, TNRC14	uc010tbb.2	Q9Y618	OTTHUMG00000150455	ENST00000405201.1:c.5509_5517dupAGCAGCGGC	12.37:g.124824722_124824730dupGCCGCTGCT	ENSP00000384018:p.Gly1836_Ser1838dup	Somatic		Capture	Illumina HiSeq	Phase_I	123390674	O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	In_Frame_Ins	INS	ENST00000405201.1	37	CCDS41858.2																																																																																				NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312	
DDHD1	80821	hgsc.bcm.edu	37	14	53619480	53619481	+	In_Frame_Ins	INS	-	-	GCCGCC	rs140904345|rs55671452|rs200797826	byFrequency	TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr14:53619480_53619481insGCCGCC	ENST00000323669.5	-	1	335_336	c.336_337insGGCGGC	c.(334-339)ggcagc>ggcGGCGGCagc	p.111_112insGG	DDHD1_ENST00000395606.1_In_Frame_Ins_p.111_112insGG|RP11-547D23.1_ENST00000554235.1_RNA|AL356020.1_ENST00000584587.1_RNA|DDHD1_ENST00000357758.3_In_Frame_Ins_p.111_112insGG	NM_001160148.1	NP_001153620.1	Q8NEL9	DDHD1_HUMAN	DDHD domain containing 1	111					cell death (GO:0008219)|lipid catabolic process (GO:0016042)	cytoplasm (GO:0005737)	hydrolase activity (GO:0016787)|metal ion binding (GO:0046872)			breast(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(4)|lung(11)|ovary(3)|prostate(1)	25	Breast(41;0.037)					GACAAGGAGCTGCCGCCGCCGC	0.703														3933	0.785343	0.4962	0.8718	5008	,	,		9770	0.9673		0.833	False		,,,				2504	0.8783																0			14																																								52689231	SO:0001652	inframe_insertion	80821			AB051492	CCDS9714.1, CCDS53895.1, CCDS53896.1	14q21	2012-11-23			ENSG00000100523	ENSG00000100523			19714	protein-coding gene	gene with protein product	"""phosphatidic acid-preferring phospholipase A1"""	614603	"""spastic paraplegia 28 (autosomal recessive)"""	SPG28		11214970, 20359546	Standard	NM_030637		Approved	KIAA1705, PA-PLA1	uc001xai.3	Q8NEL9	OTTHUMG00000140305	ENST00000323669.5:c.331_336dupGGCGGC	14.37:g.53619481_53619486dupGCCGCC	ENSP00000327104:p.Gly110_Gly111dup	Somatic		Capture	Illumina HiSeq	Phase_I	52689230	G5E9D1|Q8WVH3|Q96LL2|Q9C0F8	In_Frame_Ins	INS	ENST00000323669.5	37	CCDS53895.1																																																																																				DDHD1-003	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276901.1		
FHOD1	29109	hgsc.bcm.edu	37	16	67267851	67267852	+	Frame_Shift_Ins	INS	-	-	G	rs370696219		TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr16:67267851_67267852insG	ENST00000258201.4	-	13	2001_2002	c.1754_1755insC	c.(1753-1755)cctfs	p.P585fs		NM_013241.2	NP_037373.2	Q9Y613	FHOD1_HUMAN	formin homology 2 domain containing 1	585	FH1.|Poly-Pro.				positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|nucleus (GO:0005634)	identical protein binding (GO:0042802)	p.P585fs*43(1)		breast(4)|endometrium(3)|kidney(3)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	34		Ovarian(137;0.0563)		OV - Ovarian serous cystadenocarcinoma(108;0.000691)|Epithelial(162;0.00462)|all cancers(182;0.0434)		GAAGTGGGGGAGGGGGGGGTAC	0.624																																																	1	Deletion - Frameshift(1)	breast(1)	16																																								65825353	SO:0001589	frameshift_variant	29109			AF113615	CCDS10834.1	16q22	2008-02-22			ENSG00000135723	ENSG00000135723			17905	protein-coding gene	gene with protein product		606881				10352228, 16112087	Standard	NM_013241		Approved	FHOS	uc002esl.3	Q9Y613	OTTHUMG00000137521	ENST00000258201.4:c.1755dupC	16.37:g.67267859_67267859dupG	ENSP00000258201:p.Pro585fs	Somatic		Capture	Illumina HiSeq	Phase_I	65825352	Q59F76|Q6Y1F2|Q76MS8|Q8N521	Frame_Shift_Ins	INS	ENST00000258201.4	37	CCDS10834.1																																																																																				FHOD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268844.2		
FKBP8	23770	hgsc.bcm.edu	37	19	18652666	18652677	+	In_Frame_Del	DEL	CTTCCTCCTCAC	CTTCCTCCTCAC	-	rs371561631		TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	CTTCCTCCTCAC	CTTCCTCCTCAC					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr19:18652666_18652677delCTTCCTCCTCAC	ENST00000596558.2	-	2	213_224	c.104_115delGTGAGGAGGAAG	c.(103-117)ggtgaggaggaagag>gag	p.GEEE35del	FKBP8_ENST00000453489.2_In_Frame_Del_p.GEEE64del|FKBP8_ENST00000610101.1_In_Frame_Del_p.GEEE35del|FKBP8_ENST00000597960.3_In_Frame_Del_p.GEEE35del|FKBP8_ENST00000608443.1_In_Frame_Del_p.GEEE35del|FKBP8_ENST00000222308.4_In_Frame_Del_p.GEEE35del			Q14318	FKBP8_HUMAN	FK506 binding protein 8, 38kDa	35	Glu-rich.				apoptotic process (GO:0006915)|camera-type eye development (GO:0043010)|cell fate specification (GO:0001708)|chaperone-mediated protein folding (GO:0061077)|dorsal/ventral neural tube patterning (GO:0021904)|intracellular signal transduction (GO:0035556)|multicellular organism growth (GO:0035264)|negative regulation of apoptotic process (GO:0043066)|positive regulation of BMP signaling pathway (GO:0030513)|protein peptidyl-prolyl isomerization (GO:0000413)|regulation of gene expression (GO:0010468)|smoothened signaling pathway (GO:0007224)|viral process (GO:0016032)	endoplasmic reticulum membrane (GO:0005789)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|mitochondrial envelope (GO:0005740)	FK506 binding (GO:0005528)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(3)|ovary(2)|prostate(1)	15						tcctcctcctcttcctcctcACCCTCTGCATC	0.656																																																	0			19																																								18513677	SO:0001651	inframe_deletion	23770			L37033	CCDS32961.1	19p12	2013-01-10	2002-08-29		ENSG00000105701	ENSG00000105701		"""Tetratricopeptide (TTC) repeat domain containing"""	3724	protein-coding gene	gene with protein product	"""FK506-binding protein 8 (38kD)"""	604840	"""FK506-binding protein 8 (38kD)"""			7543869	Standard	NM_012181		Approved	FKBP38, FKBPr38	uc002njj.1	Q14318		ENST00000596558.2:c.104_115delGTGAGGAGGAAG	19.37:g.18652666_18652677delCTTCCTCCTCAC	ENSP00000472302:p.Gly35_Glu38del	Somatic		Capture	Illumina HiSeq	Phase_I	18513666	C8C9T5|Q53GU3|Q7Z349|Q86YK6	In_Frame_Del	DEL	ENST00000596558.2	37																																																																																					FKBP8-002	KNOWN	alternative_5_UTR|NAGNAG_splice_site|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000466374.3	NM_012181	
Unknown	0	hgsc.bcm.edu	37	Unknown	0	0	+	IGR	INS	-	-	C			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	-	-					Unknown	Invalid:failed_liftOver	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chrUnknown:0_0insC								None (None upstream) : None (None downstream)																								0																																																	0			20																																								55400100	SO:0001628	intergenic_variant	55544																															Unknown.37:g.0_0insC		Somatic		Capture	Illumina HiSeq	Phase_I	55400099		Frame_Shift_Ins	INS		37																																																																																				0								
KRTAP10-7	386675	hgsc.bcm.edu	37	21	46020656	46020670	+	In_Frame_Del	DEL	CTGCTGCGCCCCCAG	CTGCTGCGCCCCCAG	-	rs36208679|rs60739860|rs373191083		TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	CTGCTGCGCCCCCAG	CTGCTGCGCCCCCAG					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr21:46020656_46020670delCTGCTGCGCCCCCAG	ENST00000380102.2	+	1	160_174	c.135_149delCTGCTGCGCCCCCAG	c.(133-150)ccctgctgcgcccccagc>ccc	p.CCAPS46del	TSPEAR_ENST00000323084.4_Intron	NM_198689.2	NP_941962.1	P60409	KR107_HUMAN	keratin associated protein 10-7	46	30 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)		p.S50_P54delSCCAP(1)		breast(1)|large_intestine(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	8						GCGAGCCCCCCTGCTGCGCCCCCAGCTGCTGCGCC	0.698																																																	1	Deletion - In frame(1)	upper_aerodigestive_tract(1)	21							,	2258,1042		849,560,241					,	-0.7	1.0		dbSNP_126	22	6001,1123		2605,791,166	no	coding,intron	TSPEAR,KRTAP10-7	NM_198689.2,NM_144991.2	,	3454,1351,407	A1A1,A1R,RR		15.7636,31.5758,20.7694	,	,		8259,2165				44845098	SO:0001651	inframe_deletion	386675			AJ566385	CCDS74803.1	21q22.3	2014-04-10			ENSG00000205441	ENSG00000272804		"""Keratin associated proteins"""	22970	protein-coding gene	gene with protein product				KRTAP18-7			Standard	NM_198689		Approved	KAP10.7, KAP18.7	uc002zfn.4	P60409	OTTHUMG00000188307	ENST00000380102.2:c.135_149delCTGCTGCGCCCCCAG	21.37:g.46020656_46020670delCTGCTGCGCCCCCAG	ENSP00000369445:p.Cys46_Ser50del	Somatic		Capture	Illumina HiSeq	Phase_I	44845084	Q0VDJ8|Q70LJ2	Frame_Shift_Del	DEL	ENST00000380102.2	37																																																																																					KRTAP10-7-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000128038.1	NM_198689	
GGT1	2678	hgsc.bcm.edu	37	22	25017037	25017037	+	Splice_Site	DEL	G	G	-	rs74210474		TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr22:25017037delG	ENST00000400382.1	+	9	1488	c.733delG	c.(733-735)ggg>gg	p.G246fs	GGT1_ENST00000248923.4_Splice_Site_p.G246fs|GGT1_ENST00000400383.1_Splice_Site_p.G246fs|GGT1_ENST00000406383.2_Splice_Site_p.G246fs|GGT1_ENST00000400380.1_Splice_Site_p.G246fs|GGT1_ENST00000466310.1_Intron			P19440	GGT1_HUMAN	gamma-glutamyltransferase 1	246					arachidonic acid metabolic process (GO:0019369)|cellular amino acid metabolic process (GO:0006520)|cysteine biosynthetic process (GO:0019344)|glutamate metabolic process (GO:0006536)|glutathione biosynthetic process (GO:0006750)|glutathione catabolic process (GO:0006751)|glutathione derivative biosynthetic process (GO:1901687)|glutathione metabolic process (GO:0006749)|leukotriene biosynthetic process (GO:0019370)|leukotriene metabolic process (GO:0006691)|regulation of immune system process (GO:0002682)|regulation of inflammatory response (GO:0050727)|small molecule metabolic process (GO:0044281)|spermatogenesis (GO:0007283)|xenobiotic metabolic process (GO:0006805)|zymogen activation (GO:0031638)	anchored component of external side of plasma membrane (GO:0031362)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	gamma-glutamyltransferase activity (GO:0003840)|glutathione hydrolase activity (GO:0036374)			breast(1)|endometrium(2)|kidney(14)|large_intestine(2)|lung(6)|pancreas(1)|prostate(6)|skin(7)|upper_aerodigestive_tract(1)	40					Glutathione(DB00143)	CCAGGCGGCCGGTGAGTGGGT	0.632																																																	0			22											8.0	8.0	8.0					22																	25017037		1894	4096	5990	23347037	SO:0001630	splice_region_variant	2678			M24903	CCDS42992.1	22q11.23	2008-08-15			ENSG00000100031	ENSG00000100031	2.3.2.2	"""CD molecules"", ""Gamma-glutamyltransferases"""	4250	protein-coding gene	gene with protein product		612346		GGT		8104871, 18357469	Standard	NM_001288833		Approved	D22S672, D22S732, CD224	uc003aan.1	P19440	OTTHUMG00000030859	ENST00000400382.1:c.733+1G>-	22.37:g.25017037delG		Somatic		Capture	Illumina HiSeq	Phase_I	23347037	Q08247|Q14404|Q8TBS1|Q9UMK1	Frame_Shift_Del	DEL	ENST00000400382.1	37	CCDS42992.1																																																																																				GGT1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250797.1	NM_013430	Frame_Shift_Del
NEFH	4744	hgsc.bcm.edu	37	22	29885567	29885568	+	In_Frame_Ins	INS	-	-	AAGTCCCCTGAGAAGGCC	rs147489453|rs559153194|rs75808076|rs59279731		TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chr22:29885567_29885568insAAGTCCCCTGAGAAGGCC	ENST00000310624.6	+	4	1971_1972	c.1938_1939insAAGTCCCCTGAGAAGGCC	c.(1939-1941)aag>AAGTCCCCTGAGAAGGCCaag	p.647_647K>KSPEKAK		NM_021076.3	NP_066554.2	P12036	NFH_HUMAN	neurofilament, heavy polypeptide	653	30 X 6 AA repeats of K-S-P-[AEPV]-[EAK]- [AEVK].|Tail.			Missing (in Ref. 1; CAA33366 and 5; AC000035). {ECO:0000305}.	axon development (GO:0061564)|axonogenesis (GO:0007409)|cell death (GO:0008219)|cell projection assembly (GO:0030031)|microtubule cytoskeleton organization (GO:0000226)|neurofilament bundle assembly (GO:0033693)|peripheral nervous system neuron axonogenesis (GO:0048936)|regulation of organelle transport along microtubule (GO:1902513)	axon (GO:0030424)|cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|neurofibrillary tangle (GO:0097418)|neurofilament (GO:0005883)	dynein binding (GO:0045502)|kinesin binding (GO:0019894)|microtubule binding (GO:0008017)|protein binding, bridging (GO:0030674)|protein kinase binding (GO:0019901)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|skin(3)	30						AGGAGGAAGCAAAGTCCCCTGA	0.569																																																	0			22								2816,1448		937,942,253						-5.3	0.0		dbSNP_134	77	5046,3206		1537,1972,617	no	coding	NEFH	NM_021076.3		2474,2914,870	A1A1,A1R,RR		38.8512,33.9587,37.1844				7862,4654				28215568	SO:0001652	inframe_insertion	4744				CCDS13858.1	22q12.2	2013-01-16	2008-09-19		ENSG00000100285	ENSG00000100285		"""Intermediate filaments type IV"""	7737	protein-coding gene	gene with protein product		162230	"""neurofilament, heavy polypeptide 200kDa"""				Standard	NM_021076		Approved		uc003afo.3	P12036	OTTHUMG00000151155	ENST00000310624.6:c.1939_1956dupAAGTCCCCTGAGAAGGCC	22.37:g.29885567_29885568insAAGTCCCCTGAGAAGGCC	Exception_encountered	Somatic		Capture	Illumina HiSeq	Phase_I	28215567	B4DYY4|Q96HF8|Q9UJS7|Q9UQ14	In_Frame_Ins	INS	ENST00000310624.6	37	CCDS13858.1																																																																																				NEFH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321553.2	NM_021076	
CT47B1	643311	hgsc.bcm.edu	37	X	120009232	120009234	+	In_Frame_Del	DEL	TCC	TCC	-			TCGA-F5-6571-01A-12D-1826-10	TCGA-F5-6571-10A-01D-1826-10	TCC	TCC					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	4fb0e46c-9df3-4919-bfe3-602073f6e5de	90feaed4-7945-4669-b191-39ec2bf89bc1	g.chrX:120009232_120009234delTCC	ENST00000371311.3	-	1	545_547	c.291_293delGGA	c.(289-294)gaggaa>gaa	p.97_98EE>E		NM_001145718.1	NP_001139190.1	P0C2W7	CT47B_HUMAN	cancer/testis antigen family 47, member B1	97	Poly-Glu.									breast(1)|central_nervous_system(1)|endometrium(7)|kidney(2)|lung(9)|ovary(1)|skin(1)	22						gttcccctcttcctcctcctcct	0.690														11	0.00291391	0.0	0.0	3775	,	,		12235	0.0		0.0099	False		,,,				2504	0.001																0			X								33,3157		4,18,7,1330,479						0.2	0.0			60	187,5428		14,105,54,1882,1559	no	coding	CT47B1	NM_001145718.1		18,123,61,3212,2038	A1A1,A1R,A1,RR,R		3.3304,1.0345,2.4986				220,8585				119893262	SO:0001651	inframe_deletion	643311				CCDS48161.1	Xq24	2014-05-06	2011-03-24		ENSG00000236446	ENSG00000236446			33293	protein-coding gene	gene with protein product	"""cancer/testis CT47 family, member 13"""	300790				16382448	Standard	NM_001145718		Approved	CT47.13	uc011muc.2	P0C2W7	OTTHUMG00000187483	ENST00000371311.3:c.291_293delGGA	X.37:g.120009241_120009243delTCC	ENSP00000360360:p.Glu99del	Somatic		Capture	Illumina HiSeq	Phase_I	119893260	A6NM97	In_Frame_Del	DEL	ENST00000371311.3	37	CCDS48161.1																																																																																				CT47B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058121.1	NM_001145718	
