#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
CARD11	84433	hgsc.bcm.edu	37	7	2979516	2979516	+	Missense_Mutation	SNP	T	T	C			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr7:2979516T>C	ENST00000396946.4	-	6	1134	c.731A>G	c.(730-732)aAg>aGg	p.K244R		NM_032415.4	NP_115791.3	Q9BXL7	CAR11_HUMAN	caspase recruitment domain family, member 11	244					Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|nucleotide phosphorylation (GO:0046939)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cytokine production (GO:0001819)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of T cell proliferation (GO:0042102)|regulation of apoptotic process (GO:0042981)|regulation of B cell differentiation (GO:0045577)|regulation of T cell differentiation (GO:0045580)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)|thymic T cell selection (GO:0045061)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|immunological synapse (GO:0001772)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	CARD domain binding (GO:0050700)|guanylate kinase activity (GO:0004385)	p.K237T(1)		NS(1)|breast(3)|central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(62)|kidney(11)|large_intestine(13)|lung(31)|ovary(4)|prostate(5)|skin(7)|upper_aerodigestive_tract(2)	150		Ovarian(82;0.0115)		OV - Ovarian serous cystadenocarcinoma(56;8.44e-14)		TCTCTCCAGCTTACATTCCTC	0.483			Mis		DLBCL																																			Dom	yes		7	7p22	84433	"""caspase recruitment domain family, member 11"""		L	1	Substitution - Missense(1)	haematopoietic_and_lymphoid_tissue(1)	7											170.0	155.0	160.0					7																	2979516		2203	4300	6503	2946042	SO:0001583	missense	84433			AF322641	CCDS5336.2	7p22	2014-09-17			ENSG00000198286	ENSG00000198286			16393	protein-coding gene	gene with protein product	"""card-maguk protein 1"", ""bcl10-interacting maguk protein 3"""	607210				11278692, 11356195	Standard	NM_032415		Approved	CARMA1, BIMP3	uc003smv.3	Q9BXL7	OTTHUMG00000023023	ENST00000396946.4:c.731A>G	7.37:g.2979516T>C	ENSP00000380150:p.Lys244Arg	Somatic		Capture	Illumina HiSeq	Phase_I	2946042	A4D1Z7|Q2NKN7|Q548H3	Missense_Mutation	SNP	ENST00000396946.4	37	CCDS5336.2	.	.	.	.	.	.	.	.	.	.	T	28.4	4.921159	0.92249	.	.	ENSG00000198286	ENST00000396946	T	0.34859	1.34	5.67	5.67	0.87782	.	0.151580	0.64402	D	0.000018	T	0.37100	0.0991	L	0.36672	1.1	0.52501	D	0.999959	D	0.57257	0.979	P	0.48488	0.579	T	0.05699	-1.0869	10	0.26408	T	0.33	-32.2671	15.9664	0.79974	0.0:0.0:0.0:1.0	.	244	Q9BXL7	CAR11_HUMAN	R	244	ENSP00000380150:K244R	ENSP00000380150:K244R	K	-	2	0	CARD11	2946042	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.725000	0.68507	2.172000	0.68678	0.472000	0.43445	AAG		CARD11-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059344.4	NM_032415	
PRPS1L1	221823	hgsc.bcm.edu	37	7	18066925	18066925	+	Missense_Mutation	SNP	C	C	T			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr7:18066925C>T	ENST00000506618.2	-	1	561	c.481G>A	c.(481-483)Gag>Aag	p.E161K		NM_175886.2	NP_787082	P21108	PRPS3_HUMAN	phosphoribosyl pyrophosphate synthetase 1-like 1	161					5-phosphoribose 1-diphosphate biosynthetic process (GO:0006015)|nucleotide biosynthetic process (GO:0009165)|ribonucleoside monophosphate biosynthetic process (GO:0009156)		ATP binding (GO:0005524)|kinase activity (GO:0016301)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)|ribose phosphate diphosphokinase activity (GO:0004749)			endometrium(1)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(3)	18	Lung NSC(10;0.0385)|all_lung(11;0.0736)					TTCTTCCACTCAGGGATATTC	0.443																																																	0			7											100.0	97.0	98.0					7																	18066925		2201	4300	6501	18033450	SO:0001583	missense	221823			M57423	CCDS47552.1	7p21.1	2010-12-10			ENSG00000229937	ENSG00000229937			9463	protein-coding gene	gene with protein product		611566		PRPSL		2168892	Standard	NM_175886		Approved	PRPS3	uc003stz.3	P21108	OTTHUMG00000152742	ENST00000506618.2:c.481G>A	7.37:g.18066925C>T	ENSP00000424595:p.Glu161Lys	Somatic		Capture	Illumina HiSeq	Phase_I	18033450	Q6P5P6	Missense_Mutation	SNP	ENST00000506618.2	37	CCDS47552.1	.	.	.	.	.	.	.	.	.	.	C	11.56	1.675206	0.29783	.	.	ENSG00000229937	ENST00000506618	D	0.91124	-2.79	4.62	1.69	0.24217	Phosphoribosyltransferase (1);	.	.	.	.	T	0.79862	0.4519	N	0.12887	0.27	.	.	.	B	0.10296	0.003	B	0.17722	0.019	T	0.72127	-0.4384	8	0.30854	T	0.27	.	8.1643	0.31217	0.0:0.6143:0.2997:0.086	.	161	P21108	PRPS3_HUMAN	K	161	ENSP00000424595:E161K	ENSP00000424595:E161K	E	-	1	0	PRPS1L1	18033450	0.998000	0.40836	0.071000	0.20095	0.960000	0.62799	4.287000	0.59001	0.242000	0.21303	0.650000	0.86243	GAG		PRPS1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327667.1	NM_175886	
DNAH11	8701	hgsc.bcm.edu	37	7	21655915	21655915	+	Missense_Mutation	SNP	G	G	A			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr7:21655915G>A	ENST00000328843.6	+	22	4131	c.4100G>A	c.(4099-4101)aGt>aAt	p.S1367N	DNAH11_ENST00000409508.3_Intron			Q96DT5	DYH11_HUMAN	dynein, axonemal, heavy chain 11	1367	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(1)|autonomic_ganglia(1)|breast(13)|central_nervous_system(3)|cervix(4)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(50)|lung(101)|ovary(10)|pancreas(4)|prostate(7)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	230						GCCAAGGCGAGTTCCATAACT	0.408									Kartagener syndrome																																								0			7											137.0	133.0	134.0					7																	21655915		1899	4128	6027	21622440	SO:0001583	missense	8701	Familial Cancer Database	Ciliary Dyskinesia, Primary (CILD1 - CILD13), Immotile Cilia Syndrome	U83569	CCDS64602.1	7p21	2008-07-18	2006-09-04					"""Axonemal dyneins"""	2942	protein-coding gene	gene with protein product	"""dynein, ciliary, heavy chain 11"", ""dynein, heavy chain beta-like"""	603339	"""dynein, axonemal, heavy polypeptide 11"""			9256245	Standard	NM_001277115		Approved	Dnahc11, DPL11, CILD7, DNAHC11, DNAHBL, DNHBL	uc031swp.1	Q96DT5		ENST00000328843.6:c.4100G>A	7.37:g.21655915G>A	ENSP00000330671:p.Ser1367Asn	Somatic		Capture	Illumina HiSeq	Phase_I	21622440	Q9UJ82	Missense_Mutation	SNP	ENST00000328843.6	37		.	.	.	.	.	.	.	.	.	.	G	11.08	1.532700	0.27387	.	.	ENSG00000105877	ENST00000328843	T	0.23552	1.9	5.79	5.79	0.91817	Dynein heavy chain, domain-2 (1);	0.842937	0.11194	N	0.589535	T	0.44973	0.1319	.	.	.	0.24985	N	0.991572	D	0.53312	0.959	P	0.53313	0.723	T	0.40059	-0.9583	9	0.52906	T	0.07	.	20.0313	0.97540	0.0:0.0:1.0:0.0	.	1367	Q96DT5	DYH11_HUMAN	N	1367	ENSP00000330671:S1367N	ENSP00000330671:S1367N	S	+	2	0	DNAH11	21622440	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.009000	0.76347	2.746000	0.94184	0.655000	0.94253	AGT		DNAH11-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_003777	
IL6	3569	hgsc.bcm.edu	37	7	22767216	22767216	+	Missense_Mutation	SNP	G	G	A			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr7:22767216G>A	ENST00000404625.1	+	3	632	c.173G>A	c.(172-174)cGg>cAg	p.R58Q	IL6_ENST00000407492.1_Intron|IL6_ENST00000406575.1_Missense_Mutation_p.R58Q|AC073072.5_ENST00000325042.2_RNA|IL6_ENST00000420258.2_Missense_Mutation_p.R112Q|IL6_ENST00000258743.5_Missense_Mutation_p.R58Q|IL6_ENST00000401651.1_Intron|IL6_ENST00000401630.3_Missense_Mutation_p.R35Q			P05231	IL6_HUMAN	interleukin 6	58					acute-phase response (GO:0006953)|aging (GO:0007568)|bone remodeling (GO:0046849)|branching involved in salivary gland morphogenesis (GO:0060445)|cell growth (GO:0016049)|cell redox homeostasis (GO:0045454)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to lipopolysaccharide (GO:0071222)|cytokine-mediated signaling pathway (GO:0019221)|defense response to Gram-negative bacterium (GO:0050829)|defense response to Gram-positive bacterium (GO:0050830)|defense response to protozoan (GO:0042832)|defense response to virus (GO:0051607)|endocrine pancreas development (GO:0031018)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|glucagon secretion (GO:0070091)|hepatic immune response (GO:0002384)|humoral immune response (GO:0006959)|inflammatory response (GO:0006954)|interleukin-6-mediated signaling pathway (GO:0070102)|monocyte chemotaxis (GO:0002548)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of chemokine biosynthetic process (GO:0045079)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of cytokine secretion (GO:0050710)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of gluconeogenesis (GO:0045721)|negative regulation of hormone secretion (GO:0046888)|negative regulation of lipid storage (GO:0010888)|negative regulation of muscle organ development (GO:0048635)|negative regulation of neuron death (GO:1901215)|negative regulation of protein kinase activity (GO:0006469)|neuron projection development (GO:0031175)|neutrophil apoptotic process (GO:0001781)|neutrophil mediated immunity (GO:0002446)|platelet activation (GO:0030168)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell activation (GO:0050871)|positive regulation of cell proliferation (GO:0008284)|positive regulation of chemokine production (GO:0032722)|positive regulation of DNA replication (GO:0045740)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of immunoglobulin secretion (GO:0051024)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of leukocyte chemotaxis (GO:0002690)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of STAT protein import into nucleus (GO:2000366)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of translation (GO:0045727)|positive regulation of transmission of nerve impulse (GO:0051971)|positive regulation of type B pancreatic cell apoptotic process (GO:2000676)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|regulation of angiogenesis (GO:0045765)|regulation of cell shape (GO:0008360)|regulation of circadian sleep/wake cycle, non-REM sleep (GO:0045188)|regulation of vascular endothelial growth factor production (GO:0010574)|response to amino acid (GO:0043200)|response to antibiotic (GO:0046677)|response to caffeine (GO:0031000)|response to calcium ion (GO:0051592)|response to cold (GO:0009409)|response to drug (GO:0042493)|response to electrical stimulus (GO:0051602)|response to glucocorticoid (GO:0051384)|response to heat (GO:0009408)|response to insulin (GO:0032868)|response to mechanical stimulus (GO:0009612)|response to nutrient levels (GO:0031667)|response to peptidoglycan (GO:0032494)|T-helper 17 cell lineage commitment (GO:0072540)	external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|interleukin-6 receptor complex (GO:0005896)	cytokine activity (GO:0005125)|growth factor activity (GO:0008083)|interleukin-6 receptor binding (GO:0005138)			breast(1)|endometrium(2)|large_intestine(4)|lung(1)	8					Ginseng(DB01404)	AAACAAATTCGGTACATCCTC	0.587																																					Esophageal Squamous(47;342 1214 13936 33513)												0			7											106.0	101.0	103.0					7																	22767216		2203	4300	6503	22733741	SO:0001583	missense	3569			M18403	CCDS5375.1	7p21-p15	2014-04-04	2014-04-04		ENSG00000136244	ENSG00000136244		"""Interleukins and interleukin receptors"", ""Interferons"""	6018	protein-coding gene	gene with protein product	"""interferon, beta 2"""	147620	"""interleukin 6 (interferon, beta 2)"""	IFNB2		3294161	Standard	NM_000600		Approved	IL-6, BSF2, HGF, HSF	uc003svj.4	P05231	OTTHUMG00000023178	ENST00000404625.1:c.173G>A	7.37:g.22767216G>A	ENSP00000385675:p.Arg58Gln	Somatic		Capture	Illumina HiSeq	Phase_I	22733741	Q9UCU2|Q9UCU3|Q9UCU4	Missense_Mutation	SNP	ENST00000404625.1	37	CCDS5375.1	.	.	.	.	.	.	.	.	.	.	G	21.3	4.123480	0.77436	.	.	ENSG00000136244	ENST00000404625;ENST00000426291;ENST00000258743;ENST00000420258;ENST00000401630;ENST00000406575	T;T;T;T;T;T	0.21734	1.99;1.99;1.99;1.99;1.99;1.99	5.73	-11.5	0.00074	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	1.048000	0.07395	N	0.889797	T	0.13157	0.0319	N	0.24115	0.695	0.09310	N	1	D;D;P	0.69078	0.997;0.97;0.815	P;B;B	0.53313	0.723;0.372;0.112	T	0.26883	-1.0090	10	0.49607	T	0.09	1.318	0.9683	0.01410	0.176:0.2687:0.2887:0.2665	.	112;58;58	B4DNQ5;B5MC14;P05231	.;.;IL6_HUMAN	Q	58;58;58;112;35;58	ENSP00000385675:R58Q;ENSP00000405150:R58Q;ENSP00000258743:R58Q;ENSP00000405994:R112Q;ENSP00000384928:R35Q;ENSP00000385227:R58Q	ENSP00000258743:R58Q	R	+	2	0	IL6	22733741	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-2.856000	0.00729	-2.311000	0.00649	-1.121000	0.02013	CGG		IL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250225.2	NM_000600	
ELMO1	9844	hgsc.bcm.edu	37	7	37382250	37382250	+	Silent	SNP	C	C	T			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr7:37382250C>T	ENST00000310758.4	-	2	692	c.45G>A	c.(43-45)ccG>ccA	p.P15P	ELMO1_ENST00000448602.1_Silent_p.P15P|ELMO1_ENST00000442504.1_Silent_p.P15P	NM_001206480.1|NM_014800.10	NP_001193409.1|NP_055615.8	Q92556	ELMO1_HUMAN	engulfment and cell motility 1	15					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|cellular component movement (GO:0006928)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|phagocytosis, engulfment (GO:0006911)|Rac protein signal transduction (GO:0016601)|regulation of defense response to virus by virus (GO:0050690)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	SH3 domain binding (GO:0017124)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(11)|liver(2)|lung(28)|ovary(3)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)	58						GGTAGGCGCCCGGCCATTCTA	0.478																																																	0			7											150.0	159.0	156.0					7																	37382250		2203	4300	6503	37348775	SO:0001819	synonymous_variant	9844			AF398885	CCDS5449.1, CCDS5450.1	7p14.1	2012-07-10	2006-01-20		ENSG00000155849	ENSG00000155849		"""Engulfment and cell motility proteins"""	16286	protein-coding gene	gene with protein product		606420	"""engulfment and cell motility 1 (ced-12 homolog, C. elegans)"""			11595183	Standard	NM_001039459		Approved	KIAA0281, CED12, ELMO-1, CED-12	uc003tfk.2	Q92556	OTTHUMG00000023701	ENST00000310758.4:c.45G>A	7.37:g.37382250C>T		Somatic		Capture	Illumina HiSeq	Phase_I	37348775	A4D1X6|Q29R79|Q6ZTJ0|Q96PB0|Q9H0I1	Silent	SNP	ENST00000310758.4	37	CCDS5449.1																																																																																				ELMO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219830.4	NM_130442	
NME8	51314	hgsc.bcm.edu	37	7	37901698	37901698	+	Missense_Mutation	SNP	G	G	C			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr7:37901698G>C	ENST00000199447.4	+	7	711	c.339G>C	c.(337-339)ttG>ttC	p.L113F	NME8_ENST00000440017.1_Missense_Mutation_p.L113F|EPDR1_ENST00000476620.1_Intron	NM_016616.4	NP_057700.3	Q8N427	TXND3_HUMAN	NME/NM23 family member 8	113	Thioredoxin. {ECO:0000255|PROSITE- ProRule:PRU00691}.				cell differentiation (GO:0030154)|cell redox homeostasis (GO:0045454)|CTP biosynthetic process (GO:0006241)|GTP biosynthetic process (GO:0006183)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)|UTP biosynthetic process (GO:0006228)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)										TTATTAATTTGATCGATGAGG	0.363																																																	0			7											55.0	59.0	58.0					7																	37901698		2203	4300	6503	37868223	SO:0001583	missense	51314			AF202051	CCDS5452.1	7p15.2	2012-05-18	2012-05-18	2012-05-18	ENSG00000086288	ENSG00000086288			16473	protein-coding gene	gene with protein product	"""sperm-specific thioredoxin 2"""	607421	"""thioredoxin domain containing 3 (spermatozoa)"""	TXNDC3		11737268, 11768308, 19852809	Standard	NM_016616		Approved	CILD6, SPTRX2, NM23-H8	uc003tfn.3	Q8N427	OTTHUMG00000023716	ENST00000199447.4:c.339G>C	7.37:g.37901698G>C	ENSP00000199447:p.Leu113Phe	Somatic		Capture	Illumina HiSeq	Phase_I	37868223	Q9NZH1	Missense_Mutation	SNP	ENST00000199447.4	37	CCDS5452.1	.	.	.	.	.	.	.	.	.	.	G	7.480	0.648536	0.14516	.	.	ENSG00000086288	ENST00000199447;ENST00000455500;ENST00000444718;ENST00000440017	T;T	0.25414	1.8;1.8	5.63	2.82	0.32997	Thioredoxin-like fold (2);	0.000000	0.40385	N	0.001105	T	0.26955	0.0660	M	0.73598	2.24	0.09310	N	1	P	0.36733	0.567	B	0.38500	0.275	T	0.10870	-1.0611	10	0.36615	T	0.2	-3.2266	6.3386	0.21310	0.144:0.3563:0.4996:0.0	.	113	Q8N427	TXND3_HUMAN	F	113;58;58;113	ENSP00000199447:L113F;ENSP00000397063:L113F	ENSP00000199447:L113F	L	+	3	2	TXNDC3	37868223	0.120000	0.22244	0.117000	0.21633	0.005000	0.04900	0.334000	0.19787	1.372000	0.46190	0.561000	0.74099	TTG		NME8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219946.1	NM_016616	
GLI3	2737	hgsc.bcm.edu	37	7	42004786	42004786	+	Silent	SNP	G	G	A			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr7:42004786G>A	ENST00000395925.3	-	15	3969	c.3885C>T	c.(3883-3885)ttC>ttT	p.F1295F	GLI3_ENST00000479210.1_5'UTR	NM_000168.5	NP_000159.3	P10071	GLI3_HUMAN	GLI family zinc finger 3	1295					anterior semicircular canal development (GO:0060873)|anterior/posterior pattern specification (GO:0009952)|artery development (GO:0060840)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|camera-type eye morphogenesis (GO:0048593)|cell differentiation involved in kidney development (GO:0061005)|cerebral cortex radial glia guided migration (GO:0021801)|developmental growth (GO:0048589)|embryonic digestive tract development (GO:0048566)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic digit morphogenesis (GO:0042733)|embryonic skeletal system morphogenesis (GO:0048704)|forebrain dorsal/ventral pattern formation (GO:0021798)|forebrain radial glial cell differentiation (GO:0021861)|frontal suture morphogenesis (GO:0060364)|heart development (GO:0007507)|hindgut morphogenesis (GO:0007442)|hippocampus development (GO:0021766)|in utero embryonic development (GO:0001701)|lambdoid suture morphogenesis (GO:0060366)|lateral ganglionic eminence cell proliferation (GO:0022018)|lateral semicircular canal development (GO:0060875)|limb morphogenesis (GO:0035108)|lung development (GO:0030324)|mammary gland specification (GO:0060594)|melanocyte differentiation (GO:0030318)|metanephros development (GO:0001656)|negative regulation of alpha-beta T cell differentiation (GO:0046639)|negative regulation of apoptotic process (GO:0043066)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of neuron differentiation (GO:0045665)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative thymic T cell selection (GO:0045060)|nose morphogenesis (GO:0043585)|odontogenesis of dentin-containing tooth (GO:0042475)|oligodendrocyte differentiation (GO:0048709)|optic nerve morphogenesis (GO:0021631)|palate development (GO:0060021)|positive regulation of alpha-beta T cell differentiation (GO:0046638)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of neuroblast proliferation (GO:0002052)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein processing (GO:0016485)|proximal/distal pattern formation (GO:0009954)|response to estrogen (GO:0043627)|sagittal suture morphogenesis (GO:0060367)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|smoothened signaling pathway involved in spinal cord motor neuron cell fate specification (GO:0021776)|smoothened signaling pathway involved in ventral spinal cord interneuron specification (GO:0021775)|T cell differentiation in thymus (GO:0033077)|thymocyte apoptotic process (GO:0070242)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|wound healing (GO:0042060)	cilium (GO:0005929)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|primary cilium (GO:0072372)|transcriptional repressor complex (GO:0017053)	beta-catenin binding (GO:0008013)|chromatin binding (GO:0003682)|histone acetyltransferase binding (GO:0035035)|histone deacetylase binding (GO:0042826)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(2)|biliary_tract(1)|breast(4)|central_nervous_system(2)|endometrium(12)|kidney(7)|large_intestine(25)|lung(49)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	112						CCGGCAGGCCGAAATTCAGCT	0.632									Pallister-Hall syndrome;Greig Cephalopolysyndactyly																																								0			7											37.0	38.0	37.0					7																	42004786		2203	4300	6503	41971311	SO:0001819	synonymous_variant	2737	Familial Cancer Database	;		CCDS5465.1	7p13	2013-01-25	2009-03-05		ENSG00000106571	ENSG00000106571		"""Zinc fingers, C2H2-type"""	4319	protein-coding gene	gene with protein product	"""zinc finger protein GLI3"", ""oncogene GLI3"", ""DNA-binding protein"""	165240	"""Greig cephalopolysyndactyly syndrome"", ""GLI-Kruppel family member GLI3"", ""glioma-associated oncogene family zinc finger 3"""	GCPS, PHS		2118997	Standard	NM_000168		Approved	PAP-A, PAPA, PAPA1, PAPB, ACLS, PPDIV	uc011kbh.2	P10071	OTTHUMG00000023630	ENST00000395925.3:c.3885C>T	7.37:g.42004786G>A		Somatic		Capture	Illumina HiSeq	Phase_I	41971311	A4D1W1|O75219|Q17RW4|Q75MT0|Q75MU9|Q9UDT5|Q9UJ39	Silent	SNP	ENST00000395925.3	37	CCDS5465.1																																																																																				GLI3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250806.3	NM_000168	
SLC26A3	1811	hgsc.bcm.edu	37	7	107408041	107408041	+	Missense_Mutation	SNP	G	G	A			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr7:107408041G>A	ENST00000340010.5	-	20	2438	c.2254C>T	c.(2254-2256)Cgt>Tgt	p.R752C	SLC26A3_ENST00000422236.2_Missense_Mutation_p.R639C	NM_000111.2	NP_000102.1	P40879	S26A3_HUMAN	solute carrier family 26 (anion exchanger), member 3	752					anion transport (GO:0006820)|cellular response to cAMP (GO:0071320)|excretion (GO:0007588)|intracellular pH elevation (GO:0051454)|ion transport (GO:0006811)|membrane hyperpolarization (GO:0060081)|regulation of RNA biosynthetic process (GO:2001141)|regulation of transcription, DNA-templated (GO:0006355)|sperm capacitation (GO:0048240)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|sperm midpiece (GO:0097225)	anion:anion antiporter activity (GO:0015301)|bicarbonate transmembrane transporter activity (GO:0015106)|chloride transmembrane transporter activity (GO:0015108)|secondary active sulfate transmembrane transporter activity (GO:0008271)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription cofactor activity (GO:0003712)|transporter activity (GO:0005215)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(18)|ovary(4)|prostate(1)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	46						ACCCGATTACGTAATCCTCCA	0.343																																																	0			7																																								107195277	SO:0001583	missense	1811			L02785	CCDS5748.1	7q31	2014-09-17	2013-07-18		ENSG00000091138	ENSG00000091138		"""Solute carriers"""	3018	protein-coding gene	gene with protein product		126650	"""congenital chloride diarrhea"", ""solute carrier family 26, member 3"""	DRA, CLD		8020951, 11087667	Standard	NM_000111		Approved		uc003ver.2	P40879	OTTHUMG00000154812	ENST00000340010.5:c.2254C>T	7.37:g.107408041G>A	ENSP00000345873:p.Arg752Cys	Somatic		Capture	Illumina HiSeq	Phase_I	107195277		Missense_Mutation	SNP	ENST00000340010.5	37	CCDS5748.1	.	.	.	.	.	.	.	.	.	.	G	14.35	2.510465	0.44660	.	.	ENSG00000091138	ENST00000422236;ENST00000340010	D;D	0.94650	-3.48;-3.34	4.64	4.64	0.57946	.	0.392271	0.27961	N	0.017141	D	0.96144	0.8743	M	0.71581	2.175	0.38861	D	0.956487	D;B	0.89917	1.0;0.263	P;B	0.61003	0.882;0.031	D	0.96891	0.9653	10	0.62326	D	0.03	.	14.6142	0.68537	0.0:0.0:1.0:0.0	.	639;752	G5E9U3;P40879	.;S26A3_HUMAN	C	639;752	ENSP00000415817:R639C;ENSP00000345873:R752C	ENSP00000345873:R752C	R	-	1	0	SLC26A3	107195277	1.000000	0.71417	1.000000	0.80357	0.951000	0.60555	3.385000	0.52485	2.409000	0.81822	0.644000	0.83932	CGT		SLC26A3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337190.1	NM_000111	
LRRN3	54674	hgsc.bcm.edu	37	7	110763550	110763550	+	Missense_Mutation	SNP	T	T	C			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr7:110763550T>C	ENST00000422987.3	+	2	1553	c.722T>C	c.(721-723)aTc>aCc	p.I241T	IMMP2L_ENST00000331762.3_Intron|LRRN3_ENST00000308478.5_Missense_Mutation_p.I241T|IMMP2L_ENST00000405709.2_Intron|IMMP2L_ENST00000489381.1_Intron|LRRN3_ENST00000451085.1_Missense_Mutation_p.I241T|IMMP2L_ENST00000452895.1_Intron|IMMP2L_ENST00000415362.1_Intron|IMMP2L_ENST00000437687.1_Intron|IMMP2L_ENST00000447215.1_Intron|IMMP2L_ENST00000450877.1_Intron	NM_018334.4	NP_060804.3	Q9H3W5	LRRN3_HUMAN	leucine rich repeat neuronal 3	241					positive regulation of protein phosphorylation (GO:0001934)	clathrin adaptor complex (GO:0030131)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(15)|lung(20)|ovary(2)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(1)	55				UCEC - Uterine corpus endometrioid carcinoma (4;0.245)|LUSC - Lung squamous cell carcinoma(290;0.0715)|Lung(3;0.0864)|STAD - Stomach adenocarcinoma(3;0.125)		TTAGAAAGCATCTCTTTTTAC	0.343																																																	0			7											61.0	63.0	62.0					7																	110763550		2202	4299	6501	110550786	SO:0001583	missense	54674			AB060967	CCDS5754.1	7q31.1	2013-02-11			ENSG00000173114	ENSG00000173114		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	17200	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 5"""					11549284	Standard	NM_001099660		Approved	NLRR3, FLJ11129, FIGLER5	uc003vfs.4	Q9H3W5	OTTHUMG00000155039	ENST00000422987.3:c.722T>C	7.37:g.110763550T>C	ENSP00000412417:p.Ile241Thr	Somatic		Capture	Illumina HiSeq	Phase_I	110550786	O43377|Q6I9V8|Q8IYQ6	Missense_Mutation	SNP	ENST00000422987.3	37	CCDS5754.1	.	.	.	.	.	.	.	.	.	.	T	16.13	3.037235	0.54896	.	.	ENSG00000173114	ENST00000308478;ENST00000451085;ENST00000422987;ENST00000421101	T;T;T;T	0.60424	0.19;0.19;0.19;0.19	5.96	5.96	0.96718	.	0.000000	0.64402	D	0.000011	T	0.71230	0.3315	L	0.58810	1.83	0.58432	D	0.999997	D	0.57571	0.98	P	0.61800	0.894	T	0.73892	-0.3839	10	0.87932	D	0	.	16.4447	0.83919	0.0:0.0:0.0:1.0	.	241	Q9H3W5	LRRN3_HUMAN	T	241	ENSP00000312001:I241T;ENSP00000397312:I241T;ENSP00000412417:I241T;ENSP00000407927:I241T	ENSP00000312001:I241T	I	+	2	0	LRRN3	110550786	1.000000	0.71417	1.000000	0.80357	0.851000	0.48451	8.040000	0.89188	2.284000	0.76573	0.528000	0.53228	ATC		LRRN3-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338171.2	NM_018334	
ZNF800	168850	hgsc.bcm.edu	37	7	127017375	127017375	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr7:127017375G>A	ENST00000393313.1	-	4	757	c.166C>T	c.(166-168)Caa>Taa	p.Q56*	ZNF800_ENST00000265827.3_Nonsense_Mutation_p.Q56*|ZNF800_ENST00000393312.1_Nonsense_Mutation_p.Q56*			Q2TB10	ZN800_HUMAN	zinc finger protein 800	56					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(6)|lung(8)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)	32						TGCTTAAGTTGTTTAGTTCCT	0.313																																																	0			7											39.0	45.0	43.0					7																	127017375		2196	4293	6489	126804611	SO:0001587	stop_gained	168850			AF218032	CCDS5795.1	7q31.33	2008-05-02			ENSG00000048405	ENSG00000048405		"""Zinc fingers, C2H2-type"""	27267	protein-coding gene	gene with protein product						12477932	Standard	NM_176814		Approved		uc003vly.1	Q2TB10	OTTHUMG00000023456	ENST00000393313.1:c.166C>T	7.37:g.127017375G>A	ENSP00000376989:p.Gln56*	Somatic		Capture	Illumina HiSeq	Phase_I	126804611	Q9HBN0	Nonsense_Mutation	SNP	ENST00000393313.1	37	CCDS5795.1	.	.	.	.	.	.	.	.	.	.	G	35	5.445189	0.96187	.	.	ENSG00000048405	ENST00000393313;ENST00000265827;ENST00000393312;ENST00000434602;ENST00000436992;ENST00000439506	.	.	.	5.78	5.78	0.91487	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1.000000	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-0.8968	18.9926	0.92800	0.0:0.0:1.0:0.0	.	.	.	.	X	56	.	ENSP00000265827:Q56X	Q	-	1	0	ZNF800	126804611	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.540000	0.82074	2.714000	0.92807	0.650000	0.86243	CAA		ZNF800-002	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141823.1	NM_176814	
CNTNAP2	26047	hgsc.bcm.edu	37	7	147914416	147914416	+	Missense_Mutation	SNP	G	G	A	rs143879959		TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr7:147914416G>A	ENST00000361727.3	+	19	3563	c.3047G>A	c.(3046-3048)cGa>cAa	p.R1016Q	CNTNAP2_ENST00000538075.1_Missense_Mutation_p.R75Q	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	1016					adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)	p.R1016Q(1)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ATGTGGCTACGATATAACTTT	0.488										HNSCC(39;0.1)																																							1	Substitution - Missense(1)	large_intestine(1)	7						G	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	115.0	116.0	115.0		3047	5.2	1.0	7	dbSNP_134	115	0,8600		0,0,4300	no	missense	CNTNAP2	NM_014141.5	43	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	probably-damaging	1016/1332	147914416	1,13005	2203	4300	6503	147545349	SO:0001583	missense	26047			AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.3047G>A	7.37:g.147914416G>A	ENSP00000354778:p.Arg1016Gln	Somatic		Capture	Illumina HiSeq	Phase_I	147545349	D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Missense_Mutation	SNP	ENST00000361727.3	37	CCDS5889.1	.	.	.	.	.	.	.	.	.	.	G	13.95	2.389917	0.42410	2.27E-4	0.0	ENSG00000174469	ENST00000361727;ENST00000538075	T;T	0.79653	-1.29;-1.29	5.25	5.25	0.73442	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);	0.070850	0.56097	D	0.000027	T	0.72439	0.3460	L	0.41710	1.295	0.30814	N	0.738567	B	0.29212	0.237	B	0.26864	0.074	T	0.66204	-0.5982	10	0.11794	T	0.64	.	17.4392	0.87561	0.0:0.0:1.0:0.0	.	1016	Q9UHC6	CNTP2_HUMAN	Q	1016;75	ENSP00000354778:R1016Q;ENSP00000440732:R75Q	ENSP00000354778:R1016Q	R	+	2	0	CNTNAP2	147545349	0.991000	0.36638	0.984000	0.44739	0.771000	0.43674	5.444000	0.66587	2.438000	0.82558	0.561000	0.74099	CGA		CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1		
ZNF775	285971	hgsc.bcm.edu	37	7	150093656	150093656	+	Silent	SNP	G	G	A	rs375605204		TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr7:150093656G>A	ENST00000329630.5	+	3	194	c.87G>A	c.(85-87)acG>acA	p.T29T		NM_173680.3	NP_775951.2	Q96BV0	ZN775_HUMAN	zinc finger protein 775	29					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)|lung(7)|skin(1)	11	Ovarian(565;0.183)|Melanoma(164;0.226)		OV - Ovarian serous cystadenocarcinoma(82;0.0173)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		TGCTGCAGACGCTGGCGCCGC	0.657																																																	0			7						G		3,3903		0,3,1950	8.0	12.0	11.0		87	-9.2	0.0	7		11	1,8199		0,1,4099	no	coding-synonymous	ZNF775	NM_173680.3		0,4,6049	AA,AG,GG		0.0122,0.0768,0.033		29/538	150093656	4,12102	1953	4100	6053	149724589	SO:0001819	synonymous_variant	285971			BC038111	CCDS43678.1	7q36.1	2013-01-08			ENSG00000196456	ENSG00000196456		"""Zinc fingers, C2H2-type"""	28501	protein-coding gene	gene with protein product						12477932	Standard	NM_173680		Approved	MGC33584	uc003whf.1	Q96BV0	OTTHUMG00000158324	ENST00000329630.5:c.87G>A	7.37:g.150093656G>A		Somatic		Capture	Illumina HiSeq	Phase_I	149724589	Q8IY24	Silent	SNP	ENST00000329630.5	37	CCDS43678.1																																																																																				ZNF775-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000350679.1	NM_173680	
SLC4A2	6522	hgsc.bcm.edu	37	7	150768632	150768632	+	Missense_Mutation	SNP	G	G	A	rs200122092		TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr7:150768632G>A	ENST00000485713.1	+	14	3171	c.2131G>A	c.(2131-2133)Gca>Aca	p.A711T	SLC4A2_ENST00000413384.2_Missense_Mutation_p.A711T|SLC4A2_ENST00000310317.5_Missense_Mutation_p.A629T|SLC4A2_ENST00000461735.1_Missense_Mutation_p.A697T|SLC4A2_ENST00000392826.2_Missense_Mutation_p.A702T	NM_001199692.1	NP_001186621.1	P04920	B3A2_HUMAN	solute carrier family 4 (anion exchanger), member 2	711	Membrane (anion exchange).				anion transport (GO:0006820)|bicarbonate transport (GO:0015701)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	anion transmembrane transporter activity (GO:0008509)|chloride transmembrane transporter activity (GO:0015108)|inorganic anion exchanger activity (GO:0005452)			NS(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(2)|liver(2)|lung(14)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33			OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		GTGCCTGGCCGCAGTCATCTT	0.652																																																	0			7											60.0	60.0	60.0					7																	150768632		2203	4300	6503	150399565	SO:0001583	missense	6522				CCDS5917.1, CCDS56520.1, CCDS56521.1	7q36.1	2013-07-19	2013-07-19		ENSG00000164889	ENSG00000164889		"""Solute carriers"""	11028	protein-coding gene	gene with protein product	"""anion exchanger 2 type a"", ""anion exchanger 2 type b1"", ""anion exchanger 2 type b2"""	109280	"""erythrocyte membrane protein band 3-like 1"", ""solute carrier family 4, anion exchanger, member 2 (erythrocyte membrane protein band 3-like 1)"""	EPB3L1, AE2		8434259	Standard	NM_003040		Approved	HKB3, BND3L, NBND3	uc003wit.4	P04920	OTTHUMG00000158443	ENST00000485713.1:c.2131G>A	7.37:g.150768632G>A	ENSP00000419412:p.Ala711Thr	Somatic		Capture	Illumina HiSeq	Phase_I	150399565	B2R6T0|B4DIT0|D3DX05|F8W682|Q45EY5|Q969L3	Missense_Mutation	SNP	ENST00000485713.1	37	CCDS5917.1	.	.	.	.	.	.	.	.	.	.	G	24.6	4.553534	0.86127	.	.	ENSG00000164889	ENST00000485713;ENST00000413384;ENST00000310317;ENST00000392826;ENST00000461735	D;D;D;D;D	0.82803	-1.65;-1.65;-1.65;-1.65;-1.65	4.45	4.45	0.53987	Bicarbonate transporter, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.87478	0.6187	M	0.64080	1.96	0.80722	D	1	D;D;D	0.56035	0.967;0.967;0.974	P;P;P	0.57720	0.733;0.733;0.826	D	0.88774	0.3266	10	0.66056	D	0.02	.	14.6509	0.68797	0.0:0.0:1.0:0.0	.	702;697;711	F8W682;P04920-2;P04920	.;.;B3A2_HUMAN	T	711;711;629;702;697	ENSP00000419412:A711T;ENSP00000405600:A711T;ENSP00000311402:A629T;ENSP00000376571:A702T;ENSP00000419164:A697T	ENSP00000311402:A629T	A	+	1	0	SLC4A2	150399565	1.000000	0.71417	0.646000	0.29493	0.715000	0.41141	9.579000	0.98204	2.318000	0.78349	0.563000	0.77884	GCA		SLC4A2-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000351039.1	NM_003040	
ASXL1	171023	hgsc.bcm.edu	37	20	31024481	31024481	+	Silent	SNP	G	G	A	rs147326327		TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr20:31024481G>A	ENST00000375687.4	+	13	4390	c.3966G>A	c.(3964-3966)ccG>ccA	p.P1322P	ASXL1_ENST00000306058.5_Silent_p.P1317P	NM_015338.5	NP_056153	Q8IXJ9	ASXL1_HUMAN	additional sex combs like transcriptional regulator 1	1322					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						CTGCGGACCCGATGCCTCTTC	0.572			"""F, N, Mis"""		"""MDS, CMML"""																																			Rec	yes		20	20q11.1	171023	additional sex combs like 1		L	0			20						G		1,4405	2.1+/-5.4	0,1,2202	41.0	44.0	43.0		3966	-9.1	0.0	20	dbSNP_134	43	0,8600		0,0,4300	no	coding-synonymous	ASXL1	NM_015338.5		0,1,6502	AA,AG,GG		0.0,0.0227,0.0077		1322/1542	31024481	1,13005	2203	4300	6503	30488142	SO:0001819	synonymous_variant	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.3966G>A	20.37:g.31024481G>A		Somatic		Capture	Illumina HiSeq	Phase_I	30488142	B2RP59|Q5JWS9|Q8IYY7|Q9H466|Q9NQF8|Q9UFJ0|Q9UFP8|Q9Y2I4	Silent	SNP	ENST00000375687.4	37	CCDS13201.1																																																																																				ASXL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000078624.2	NM_015338	
CHD6	84181	hgsc.bcm.edu	37	20	40141530	40141530	+	Silent	SNP	A	A	G			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr20:40141530A>G	ENST00000373233.3	-	5	984	c.807T>C	c.(805-807)ggT>ggC	p.G269G	CHD6_ENST00000373222.3_Silent_p.G304G|CHD6_ENST00000309279.7_Silent_p.G269G	NM_032221.3	NP_115597.3	Q8TD26	CHD6_HUMAN	chromodomain helicase DNA binding protein 6	269	Required for DNA-dependent ATPase activity.				ATP catabolic process (GO:0006200)|chromatin modification (GO:0016568)|positive regulation of transcription from RNA polymerase II promoter in response to oxidative stress (GO:0036091)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|transcription cofactor binding (GO:0001221)			breast(8)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(4)|large_intestine(24)|lung(53)|ovary(8)|prostate(5)|skin(8)|stomach(1)|urinary_tract(9)	129		Myeloproliferative disorder(115;0.00425)				CAGATGTTCGACCAGCTCCAA	0.512																																																	0			20											397.0	328.0	351.0					20																	40141530		2203	4300	6503	39574944	SO:0001819	synonymous_variant	84181			AF525085	CCDS13317.1	20q12	2003-03-07			ENSG00000124177	ENSG00000124177			19057	protein-coding gene	gene with protein product						11889561	Standard	NM_032221		Approved	KIAA1335, FLJ22369, dJ620E11.1, CHD5, RIGB	uc002xka.1	Q8TD26	OTTHUMG00000032487	ENST00000373233.3:c.807T>C	20.37:g.40141530A>G		Somatic		Capture	Illumina HiSeq	Phase_I	39574944	Q5JYQ0|Q5TGZ9|Q5TH00|Q5TH01|Q8IZR2|Q8WTY0|Q9H4H6|Q9H6D4|Q9NTT7|Q9P2L1	Silent	SNP	ENST00000373233.3	37	CCDS13317.1																																																																																				CHD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079270.1		
WISP2	8839	hgsc.bcm.edu	37	20	43348542	43348542	+	Missense_Mutation	SNP	G	G	A			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr20:43348542G>A	ENST00000372868.2	+	3	408	c.65G>A	c.(64-66)cGt>cAt	p.R22H	WISP2_ENST00000190983.4_Missense_Mutation_p.R22H|RP11-445H22.4_ENST00000427598.1_RNA|WISP2_ENST00000372865.4_Missense_Mutation_p.R22H|RP11-445H22.4_ENST00000427303.1_RNA|RP11-445H22.4_ENST00000445420.1_RNA			O76076	WISP2_HUMAN	WNT1 inducible signaling pathway protein 2	22					cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|regulation of cell growth (GO:0001558)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				skin(1)	1		Myeloproliferative disorder(115;0.0122)				CTTCAGGTGCGTACCCAGCTG	0.642																																																	0			20											53.0	39.0	43.0					20																	43348542		2202	4300	6502	42781956	SO:0001583	missense	8839			AF100780	CCDS13336.1	20q13.12	2007-05-14			ENSG00000064205	ENSG00000064205			12770	protein-coding gene	gene with protein product		603399				9843955	Standard	NM_003881		Approved	CT58, CTGF-L, CCN5	uc002xmp.3	O76076	OTTHUMG00000033071	ENST00000372868.2:c.65G>A	20.37:g.43348542G>A	ENSP00000361959:p.Arg22His	Somatic		Capture	Illumina HiSeq	Phase_I	42781956	B2R9N4|E1P612|Q6PEG3	Missense_Mutation	SNP	ENST00000372868.2	37	CCDS13336.1	.	.	.	.	.	.	.	.	.	.	G	12.32	1.902414	0.33628	.	.	ENSG00000064205	ENST00000372868;ENST00000372865;ENST00000190983	T;T;T	0.76186	-1.0;-0.12;-1.0	5.56	-0.0714	0.13743	Insulin-like growth factor-binding protein, IGFBP (1);	0.285276	0.39909	N	0.001232	T	0.55433	0.1920	L	0.43152	1.355	0.09310	N	0.999998	B;B	0.30439	0.132;0.279	B;B	0.19666	0.026;0.022	T	0.38178	-0.9673	10	0.15499	T	0.54	-21.5401	6.4051	0.21660	0.2608:0.237:0.5021:0.0	.	22;22	Q6PEG3;O76076	.;WISP2_HUMAN	H	22	ENSP00000361959:R22H;ENSP00000361956:R22H;ENSP00000190983:R22H	ENSP00000190983:R22H	R	+	2	0	WISP2	42781956	0.989000	0.36119	0.986000	0.45419	0.449000	0.32228	1.207000	0.32333	-0.214000	0.10078	0.644000	0.83932	CGT		WISP2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127824.1	NM_003881	
TP53TG5	27296	hgsc.bcm.edu	37	20	44002572	44002572	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr20:44002572C>T	ENST00000372726.3	-	5	1004	c.848G>A	c.(847-849)tGg>tAg	p.W283*	SYS1-DBNDD2_ENST00000452133.1_Intron|TP53TG5_ENST00000494455.1_5'Flank|TP53TG5_ENST00000537995.1_Nonsense_Mutation_p.W267*|SYS1_ENST00000426004.1_Intron|SYS1-DBNDD2_ENST00000475242.1_Intron	NM_014477.2	NP_055292.1	Q9Y2B4	T53G5_HUMAN	TP53 target 5	283					intracellular signal transduction (GO:0035556)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(3)|lung(2)|prostate(2)|upper_aerodigestive_tract(1)	12						TGAATTTCGCCACCCATTCCT	0.532											OREG0025981	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					0			20											174.0	146.0	155.0					20																	44002572		2203	4300	6503	43435986	SO:0001587	stop_gained	27296			AB017802	CCDS13352.1	20q13.12	2008-09-18	2008-09-18	2008-09-18	ENSG00000124251	ENSG00000124251			15856	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 10"""	C20orf10			Standard	NM_014477		Approved	CLG01, dJ453C12.5	uc002xny.3	Q9Y2B4	OTTHUMG00000032582	ENST00000372726.3:c.848G>A	20.37:g.44002572C>T	ENSP00000361811:p.Trp283*	Somatic	920	Capture	Illumina HiSeq	Phase_I	43435986		Nonsense_Mutation	SNP	ENST00000372726.3	37	CCDS13352.1	.	.	.	.	.	.	.	.	.	.	C	35	5.440114	0.96168	.	.	ENSG00000124251	ENST00000372726;ENST00000537995	.	.	.	4.39	2.4	0.29515	.	0.437819	0.16771	N	0.200192	.	.	.	.	.	.	0.30253	N	0.793901	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-3.9174	6.5201	0.22271	0.0:0.7775:0.0:0.2225	.	.	.	.	X	283;267	.	ENSP00000361811:W283X	W	-	2	0	TP53TG5	43435986	0.131000	0.22433	0.378000	0.26068	0.880000	0.50808	0.877000	0.28106	0.747000	0.32809	0.561000	0.74099	TGG		TP53TG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079460.1	NM_014477	
CDH4	1002	hgsc.bcm.edu	37	20	60318802	60318802	+	Missense_Mutation	SNP	G	G	A	rs373320390		TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr20:60318802G>A	ENST00000360469.5	+	3	441	c.353G>A	c.(352-354)cGg>cAg	p.R118Q	CDH4_ENST00000543233.1_Missense_Mutation_p.R44Q|RP11-429E11.2_ENST00000447909.1_RNA|RP11-429E11.2_ENST00000442888.1_RNA	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	118					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GCCGTGGTGCGGTTGCTGGTG	0.637																																																	0			20						G	GLN/ARG	2,4402	2.1+/-5.4	0,2,2200	55.0	45.0	48.0		353	5.0	1.0	20		48	0,8600		0,0,4300	no	missense	CDH4	NM_001794.2	43	0,2,6500	AA,AG,GG		0.0,0.0454,0.0154	benign	118/917	60318802	2,13002	2202	4300	6502	59752197	SO:0001583	missense	1002			L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"""Cadherins / Major cadherins"""	1763	protein-coding gene	gene with protein product	"""R-Cadherin"""	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.353G>A	20.37:g.60318802G>A	ENSP00000353656:p.Arg118Gln	Somatic		Capture	Illumina HiSeq	Phase_I	59752197	B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	ENST00000360469.5	37	CCDS13488.1	.	.	.	.	.	.	.	.	.	.	G	14.11	2.436840	0.43224	4.54E-4	0.0	ENSG00000179242	ENST00000360469;ENST00000543233	T;T	0.60920	0.15;0.15	5.0	5.0	0.66597	Cadherin-like (1);	0.302326	0.31246	N	0.007999	T	0.44829	0.1312	N	0.21448	0.665	0.47407	D	0.999416	B	0.22346	0.068	B	0.17433	0.018	T	0.31280	-0.9949	9	.	.	.	.	18.2809	0.90097	0.0:0.0:1.0:0.0	.	118	P55283	CADH4_HUMAN	Q	118;44	ENSP00000353656:R118Q;ENSP00000443301:R44Q	.	R	+	2	0	CDH4	59752197	1.000000	0.71417	1.000000	0.80357	0.417000	0.31264	4.485000	0.60279	2.304000	0.77564	0.491000	0.48974	CGG		CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794	
MN1	4330	hgsc.bcm.edu	37	22	28194930	28194930	+	Silent	SNP	C	C	T			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr22:28194930C>T	ENST00000302326.4	-	1	2556	c.1602G>A	c.(1600-1602)caG>caA	p.Q534Q		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	534	Poly-Gln.				intramembranous ossification (GO:0001957)			p.Q550_R551insQ(1)		NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						gctgctgctgctgttgctgct	0.647			T	ETV6	"""AML, meningioma"""																																			Dom	yes		22	22q13	4330	meningioma (disrupted in balanced translocation) 1		"""L, O"""	1	Insertion - In frame(1)	prostate(1)	22											4.0	5.0	5.0					22																	28194930		1760	3656	5416	26524930	SO:0001819	synonymous_variant	4330			X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"""probable tumor suppressor protein MN1"""	156100	"""meningioma chromosome region"""	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.1602G>A	22.37:g.28194930C>T		Somatic		Capture	Illumina HiSeq	Phase_I	26524930	A9Z1V9	Silent	SNP	ENST00000302326.4	37	CCDS42998.1																																																																																				MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430	
MN1	4330	hgsc.bcm.edu	37	22	28194933	28194933	+	Silent	SNP	T	T	C	rs572936881|rs373314940|rs71194738	byFrequency	TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr22:28194933T>C	ENST00000302326.4	-	1	2553	c.1599A>G	c.(1597-1599)caA>caG	p.Q533Q		NM_002430.2	NP_002421.3	Q10571	MN1_HUMAN	meningioma (disrupted in balanced translocation) 1	533	Poly-Gln.				intramembranous ossification (GO:0001957)					NS(1)|breast(2)|central_nervous_system(3)|endometrium(4)|kidney(3)|large_intestine(6)|lung(15)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	45						gctgctgctgttgctgctgct	0.652			T	ETV6	"""AML, meningioma"""								T|||	98	0.0195687	0.0613	0.0086	5008	,	,		12327	0.002		0.005	False		,,,				2504	0.0041							Dom	yes		22	22q13	4330	meningioma (disrupted in balanced translocation) 1		"""L, O"""	0			22						C		9,3561		0,9,1776	4.0	5.0	5.0		1599	-0.4	1.0	22		5	5,7341		0,5,3668	no	coding-synonymous	MN1	NM_002430.2		0,14,5444	CC,CT,TT		0.0681,0.2521,0.1283		533/1321	28194933	14,10902	1785	3673	5458	26524933	SO:0001819	synonymous_variant	4330			X82209	CCDS42998.1	22q12.1	2010-09-29			ENSG00000169184	ENSG00000169184			7180	protein-coding gene	gene with protein product	"""probable tumor suppressor protein MN1"""	156100	"""meningioma chromosome region"""	MGCR		7731706, 12569362	Standard	NM_002430		Approved	MGCR1-PEN, MGCR1	uc003adj.3	Q10571	OTTHUMG00000150975	ENST00000302326.4:c.1599A>G	22.37:g.28194933T>C		Somatic		Capture	Illumina HiSeq	Phase_I	26524933	A9Z1V9	Silent	SNP	ENST00000302326.4	37	CCDS42998.1																																																																																				MN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320737.1	NM_002430	
G2E3	55632	hgsc.bcm.edu	37	14	31081516	31081516	+	Missense_Mutation	SNP	A	A	G			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr14:31081516A>G	ENST00000206595.6	+	13	1758	c.1604A>G	c.(1603-1605)gAt>gGt	p.D535G	G2E3_ENST00000553504.1_Missense_Mutation_p.D565G|G2E3_ENST00000438909.2_Missense_Mutation_p.D489G	NM_017769.3	NP_060239.2	Q7L622	G2E3_HUMAN	G2/M-phase specific E3 ubiquitin protein ligase	535	HECT. {ECO:0000255|PROSITE- ProRule:PRU00104}.				apoptotic process (GO:0006915)|blastocyst development (GO:0001824)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|protein polyubiquitination (GO:0000209)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	23						ACATTAAGTGATAAATATATG	0.318																																																	0			14											91.0	94.0	93.0					14																	31081516		2203	4295	6498	30151267	SO:0001583	missense	55632			AK000340	CCDS9638.1	14q12	2013-01-28	2010-09-17	2009-02-03	ENSG00000092140	ENSG00000092140		"""Zinc fingers, PHD-type"""	20338	protein-coding gene	gene with protein product	"""PHD finger protein 7B"""	611299	"""KIAA1333"""	KIAA1333		18511420, 17239372	Standard	NM_017769		Approved	FLJ20333, PHF7B	uc001wqk.2	Q7L622	OTTHUMG00000140204	ENST00000206595.6:c.1604A>G	14.37:g.31081516A>G	ENSP00000206595:p.Asp535Gly	Somatic		Capture	Illumina HiSeq	Phase_I	30151267	Q9BVR2|Q9H9E9|Q9NXC0|Q9P2L3	Missense_Mutation	SNP	ENST00000206595.6	37	CCDS9638.1	.	.	.	.	.	.	.	.	.	.	A	24.2	4.501429	0.85176	.	.	ENSG00000092140	ENST00000206595;ENST00000438909;ENST00000553504	T;T;T	0.58210	0.35;0.35;0.35	5.47	5.47	0.80525	HECT (3);	0.139939	0.64402	D	0.000005	T	0.71913	0.3396	M	0.69823	2.125	0.53005	D	0.999965	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.75280	-0.3373	10	0.72032	D	0.01	-25.9718	15.8434	0.78868	1.0:0.0:0.0:0.0	.	47;535	Q49AD9;Q7L622	.;G2E3_HUMAN	G	535;489;565	ENSP00000206595:D535G;ENSP00000391068:D489G;ENSP00000451653:D565G	ENSP00000206595:D535G	D	+	2	0	G2E3	30151267	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	7.760000	0.85248	2.194000	0.70268	0.454000	0.30748	GAT		G2E3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276613.2	NM_017769	
FSCB	84075	hgsc.bcm.edu	37	14	44974061	44974061	+	Silent	SNP	T	T	C			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr14:44974061T>C	ENST00000340446.4	-	1	2421	c.2130A>G	c.(2128-2130)gaA>gaG	p.E710E	RP11-163M18.1_ENST00000557465.1_RNA|RP11-163M18.1_ENST00000555433.1_RNA	NM_032135.3	NP_115511.3	Q5H9T9	FSCB_HUMAN	fibrous sheath CABYR binding protein	710						sperm fibrous sheath (GO:0035686)|sperm principal piece (GO:0097228)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(10)|lung(47)|ovary(2)|pancreas(1)|prostate(5)|skin(5)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(1)	89				GBM - Glioblastoma multiforme(112;0.128)		CGGAGGCCTCTTCTGCAGGGA	0.532																																																	0			14											44.0	49.0	47.0					14																	44974061		2203	4300	6503	44043811	SO:0001819	synonymous_variant	84075			AK124110	CCDS9679.1	14q21.3	2007-11-22	2007-11-22	2007-11-22	ENSG00000189139	ENSG00000189139			20494	protein-coding gene	gene with protein product		611779	"""chromosome 14 open reading frame 155"""	C14orf155		17855365	Standard	NM_032135		Approved	DKFZP434F1017	uc001wvn.3	Q5H9T9	OTTHUMG00000140262	ENST00000340446.4:c.2130A>G	14.37:g.44974061T>C		Somatic		Capture	Illumina HiSeq	Phase_I	44043811	Q5H9U7|Q86YI2|Q9H0J3	Silent	SNP	ENST00000340446.4	37	CCDS9679.1																																																																																				FSCB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276788.1	NM_032135	
OTX2	5015	hgsc.bcm.edu	37	14	57269021	57269021	+	Missense_Mutation	SNP	T	T	C			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr14:57269021T>C	ENST00000555006.1	-	4	710	c.302A>G	c.(301-303)cAg>cGg	p.Q101R	OTX2_ENST00000554788.1_3'UTR|OTX2_ENST00000554559.1_3'UTR|OTX2_ENST00000408990.3_Missense_Mutation_p.Q101R|RP11-1085N6.6_ENST00000602485.1_lincRNA|OTX2_ENST00000339475.5_Missense_Mutation_p.Q109R			P32243	OTX2_HUMAN	orthodenticle homeobox 2	101	Poly-Gln.				axon guidance (GO:0007411)|cell fate specification (GO:0001708)|diencephalon morphogenesis (GO:0048852)|dorsal/ventral pattern formation (GO:0009953)|endoderm development (GO:0007492)|eye photoreceptor cell fate commitment (GO:0042706)|forebrain development (GO:0030900)|inner ear morphogenesis (GO:0042472)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|neuron fate determination (GO:0048664)|positive regulation of embryonic development (GO:0040019)|positive regulation of gastrulation (GO:2000543)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|primitive streak formation (GO:0090009)|protein complex assembly (GO:0006461)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of smoothened signaling pathway (GO:0008589)|somite rostral/caudal axis specification (GO:0032525)	cytoplasm (GO:0005737)|growth cone (GO:0030426)|nucleus (GO:0005634)|protein complex (GO:0043234)	eukaryotic initiation factor 4E binding (GO:0008190)|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)	p.Q109P(1)		central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(7)|ovary(1)|prostate(1)|urinary_tract(1)	19	Medulloblastoma(1;0.00184)|all_neural(1;0.00414)					ACCTCCATTCTGCTGTTGTTG	0.448																																																	1	Substitution - Missense(1)	ovary(1)	14											107.0	110.0	109.0					14																	57269021		2203	4300	6503	56338774	SO:0001583	missense	5015			AF298117	CCDS9728.1, CCDS41960.1	14q22.3	2014-09-17	2007-02-15		ENSG00000165588	ENSG00000165588		"""Homeoboxes / PRD class"""	8522	protein-coding gene	gene with protein product		600037	"""orthodenticle homolog 2 (Drosophila)"""			7959790	Standard	NM_021728		Approved		uc031qor.1	P32243	OTTHUMG00000152338	ENST00000555006.1:c.302A>G	14.37:g.57269021T>C	ENSP00000452336:p.Gln101Arg	Somatic		Capture	Illumina HiSeq	Phase_I	56338774	B2RAN5|Q6GTV3|Q9HAW3|Q9P2R1	Missense_Mutation	SNP	ENST00000555006.1	37	CCDS41960.1	.	.	.	.	.	.	.	.	.	.	T	16.66	3.183886	0.57800	.	.	ENSG00000165588	ENST00000339475;ENST00000408990;ENST00000555006;ENST00000554845;ENST00000555804	D;D;D;D;D	0.91843	-2.74;-2.74;-2.74;-2.79;-2.92	5.78	5.78	0.91487	.	0.000000	0.40554	N	0.001076	D	0.92364	0.7577	M	0.84326	2.69	0.80722	D	1	P;P	0.41313	0.745;0.698	B;B	0.38562	0.276;0.201	D	0.93082	0.6492	10	0.66056	D	0.02	.	14.9485	0.71050	0.0:0.0:0.0:1.0	.	109;101	F1T0D1;P32243	.;OTX2_HUMAN	R	109;101;101;109;101	ENSP00000343819:Q109R;ENSP00000386185:Q101R;ENSP00000452336:Q101R;ENSP00000451357:Q109R;ENSP00000451272:Q101R	ENSP00000343819:Q109R	Q	-	2	0	OTX2	56338774	1.000000	0.71417	1.000000	0.80357	0.922000	0.55478	8.040000	0.89188	2.212000	0.71576	0.374000	0.22700	CAG		OTX2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411522.1	NM_021728.	
PPM1A	5494	hgsc.bcm.edu	37	14	60756550	60756550	+	Missense_Mutation	SNP	G	G	A			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr14:60756550G>A	ENST00000395076.4	+	4	1409	c.979G>A	c.(979-981)Gtc>Atc	p.V327I	PPM1A_ENST00000325642.3_Missense_Mutation_p.V400I|PPM1A_ENST00000529574.1_Missense_Mutation_p.V327I	NM_021003.4	NP_066283.1	P35813	PPM1A_HUMAN	protein phosphatase, Mg2+/Mn2+ dependent, 1A	327					cell cycle arrest (GO:0007050)|dephosphorylation (GO:0016311)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|N-terminal protein myristoylation (GO:0006499)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of NF-kappaB import into nucleus (GO:0042347)|negative regulation of SMAD protein complex assembly (GO:0010991)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|peptidyl-threonine dephosphorylation (GO:0035970)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|protein dephosphorylation (GO:0006470)|transcription initiation from RNA polymerase II promoter (GO:0006367)|transcription, DNA-templated (GO:0006351)|transforming growth factor beta receptor signaling pathway (GO:0007179)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|voltage-gated calcium channel complex (GO:0005891)	calmodulin-dependent protein phosphatase activity (GO:0033192)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein serine/threonine phosphatase activity (GO:0004722)|R-SMAD binding (GO:0070412)|signal transducer activity (GO:0004871)			cervix(1)|endometrium(1)|large_intestine(8)|lung(2)|skin(1)|upper_aerodigestive_tract(1)	14				OV - Ovarian serous cystadenocarcinoma(108;0.046)		GGGGGAAGGCGTCCCCGACTT	0.433																																																	0			14											58.0	58.0	58.0					14																	60756550		2203	4300	6503	59826303	SO:0001583	missense	5494			S87759	CCDS9744.1, CCDS9745.1, CCDS45120.1	14q23.1	2013-01-24	2010-03-05		ENSG00000100614	ENSG00000100614	3.1.3.16	"""Serine/threonine phosphatases / Protein phosphatases, Mg2+/Mn2+ dependent"""	9275	protein-coding gene	gene with protein product	"""phosphatase 2C alpha"", ""protein phosphatase 2C, alpha isoform"""	606108	"""protein phosphatase 1A (formerly 2C), magnesium-dependent, alpha isoform"""			1311954	Standard	NM_177952		Approved	MGC9201, PP2Calpha, PP2CA	uc001xew.4	P35813	OTTHUMG00000140333	ENST00000395076.4:c.979G>A	14.37:g.60756550G>A	ENSP00000378514:p.Val327Ile	Somatic		Capture	Illumina HiSeq	Phase_I	59826303	B5BU11|J3KNM0|O75551	Missense_Mutation	SNP	ENST00000395076.4	37	CCDS9744.1	.	.	.	.	.	.	.	.	.	.	G	10.91	1.483731	0.26598	.	.	ENSG00000100614	ENST00000325642;ENST00000529574;ENST00000395076	T;T;T	0.30182	1.54;1.56;1.56	5.36	5.36	0.76844	Protein serine/threonine phosphatase 2C, C-terminal (3);	0.050666	0.85682	D	0.000000	T	0.22859	0.0552	N	0.20845	0.615	0.51767	D	0.99993	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.05733	-1.0867	10	0.17832	T	0.49	.	19.4366	0.94798	0.0:0.0:1.0:0.0	.	327;327	P35813;B2R8E4	PPM1A_HUMAN;.	I	400;327;327	ENSP00000327255:V400I;ENSP00000432966:V327I;ENSP00000378514:V327I	ENSP00000327255:V400I	V	+	1	0	PPM1A	59826303	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.300000	0.72776	2.669000	0.90835	0.585000	0.79938	GTC		PPM1A-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000276949.2	NM_021003	
C14orf39	317761	hgsc.bcm.edu	37	14	60923731	60923731	+	Missense_Mutation	SNP	G	G	A			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr14:60923731G>A	ENST00000321731.3	-	15	1421	c.1262C>T	c.(1261-1263)aCg>aTg	p.T421M		NM_174978.2	NP_777638	Q8N1H7	S6OS1_HUMAN	chromosome 14 open reading frame 39	421					multicellular organismal development (GO:0007275)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)					breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(7)|ovary(2)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	30				OV - Ovarian serous cystadenocarcinoma(108;0.0448)		AATTTCAGACGTTCGTGGAAA	0.378																																																	0			14											96.0	111.0	106.0					14																	60923731		2203	4297	6500	59993484	SO:0001583	missense	317761			AK098187	CCDS9746.1	14q23.1	2012-11-05	2012-11-05	2012-11-05	ENSG00000179008	ENSG00000179008			19849	protein-coding gene	gene with protein product							Standard	NM_174978		Approved	SIX6OS1	uc001xez.4	Q8N1H7	OTTHUMG00000140332	ENST00000321731.3:c.1262C>T	14.37:g.60923731G>A	ENSP00000324920:p.Thr421Met	Somatic		Capture	Illumina HiSeq	Phase_I	59993484	Q08AQ4	Missense_Mutation	SNP	ENST00000321731.3	37	CCDS9746.1	.	.	.	.	.	.	.	.	.	.	G	6.904	0.536431	0.13188	.	.	ENSG00000179008	ENST00000321731	T	0.27104	1.69	5.32	3.42	0.39159	.	0.196858	0.39274	N	0.001403	T	0.44829	0.1312	M	0.65975	2.015	0.29488	N	0.855838	D	0.89917	1.0	D	0.70487	0.969	T	0.39800	-0.9596	10	0.51188	T	0.08	-4.9895	10.5389	0.45020	0.0:0.0:0.6486:0.3514	.	421	Q8N1H7	S6OS1_HUMAN	M	421	ENSP00000324920:T421M	ENSP00000324920:T421M	T	-	2	0	C14orf39	59993484	0.998000	0.40836	0.989000	0.46669	0.017000	0.09413	1.693000	0.37742	0.750000	0.32877	0.563000	0.77884	ACG		C14orf39-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276948.1	NM_174978	
FLRT2	23768	hgsc.bcm.edu	37	14	86088591	86088591	+	Missense_Mutation	SNP	C	C	G			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr14:86088591C>G	ENST00000330753.4	+	2	1500	c.733C>G	c.(733-735)Cct>Gct	p.P245A	FLRT2_ENST00000554746.1_Missense_Mutation_p.P245A	NM_013231.4	NP_037363.1	O43155	FLRT2_HUMAN	fibronectin leucine rich transmembrane protein 2	245					axon guidance (GO:0007411)|cell adhesion (GO:0007155)|intracellular signal transduction (GO:0035556)|regulation of neuron migration (GO:2001222)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|proteinaceous extracellular matrix (GO:0005578)	chemorepellent activity (GO:0045499)|protein binding, bridging (GO:0030674)|receptor signaling protein activity (GO:0005057)			NS(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|large_intestine(21)|lung(27)|ovary(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	73				BRCA - Breast invasive adenocarcinoma(234;0.0319)		GCTGTCCCACCCTCCTCCCGA	0.512																																																	0			14											85.0	84.0	84.0					14																	86088591		2203	4300	6503	85158344	SO:0001583	missense	23768			AF169676	CCDS9877.1	14q24-q32	2013-02-11				ENSG00000185070		"""Fibronectin type III domain containing"""	3761	protein-coding gene	gene with protein product		604807				10644439, 16872596	Standard	XM_005267490		Approved		uc001xvr.3	O43155		ENST00000330753.4:c.733C>G	14.37:g.86088591C>G	ENSP00000332879:p.Pro245Ala	Somatic		Capture	Illumina HiSeq	Phase_I	85158344	A0AV84|B7ZLP3	Missense_Mutation	SNP	ENST00000330753.4	37	CCDS9877.1	.	.	.	.	.	.	.	.	.	.	C	14.77	2.634803	0.47049	.	.	ENSG00000185070	ENST00000330753;ENST00000554746	T;T	0.02301	4.35;4.35	5.96	5.96	0.96718	.	0.000000	0.85682	D	0.000000	T	0.05686	0.0149	N	0.12569	0.235	0.80722	D	1	D	0.76494	0.999	D	0.75484	0.986	T	0.65965	-0.6040	10	0.21540	T	0.41	-21.0308	20.4043	0.99006	0.0:1.0:0.0:0.0	.	245	O43155	FLRT2_HUMAN	A	245	ENSP00000332879:P245A;ENSP00000451050:P245A	ENSP00000332879:P245A	P	+	1	0	FLRT2	85158344	1.000000	0.71417	0.351000	0.25721	0.866000	0.49608	7.817000	0.86213	2.823000	0.97156	0.650000	0.86243	CCT		FLRT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413193.1		
SERPINA6	866	hgsc.bcm.edu	37	14	94780520	94780520	+	Silent	SNP	A	A	G			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr14:94780520A>G	ENST00000341584.3	-	2	612	c.466T>C	c.(466-468)Ttg>Ctg	p.L156L		NM_001756.3	NP_001747	P08185	CBG_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6	156					glucocorticoid metabolic process (GO:0008211)|negative regulation of endopeptidase activity (GO:0010951)|regulation of proteolysis (GO:0030162)|transport (GO:0006810)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)|steroid binding (GO:0005496)			central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(11)|ovary(1)|skin(4)|upper_aerodigestive_tract(1)	26		all_cancers(154;0.0482)|all_epithelial(191;0.166)		COAD - Colon adenocarcinoma(157;0.211)	Alclometasone(DB00240)|Beclomethasone(DB00394)|Ciclesonide(DB01410)|Flumethasone Pivalate(DB00663)|Flunisolide(DB00180)|Fluocinolone Acetonide(DB00591)|Fluocinonide(DB01047)|Fluorometholone(DB00324)|Flurandrenolide(DB00846)|Fluticasone Propionate(DB00588)|Halobetasol Propionate(DB00596)|Medrysone(DB00253)|Mitotane(DB00648)|Paramethasone(DB01384)|Prednisolone(DB00860)|Rimexolone(DB00896)|Triamcinolone(DB00620)	TTCATAGCCAAGACCTCTGAC	0.468																																																	0			14											130.0	127.0	128.0					14																	94780520		2203	4300	6503	93850273	SO:0001819	synonymous_variant	866			J02943	CCDS9924.1	14q32.13	2014-02-18	2005-08-18		ENSG00000170099	ENSG00000170099		"""Serine (or cysteine) peptidase inhibitors"""	1540	protein-coding gene	gene with protein product	"""corticosteroid binding globulin"", ""transcortin"""	122500	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 6"""	CBG		3299377, 7912884, 24172014	Standard	NM_001756		Approved		uc001ycv.3	P08185	OTTHUMG00000171346	ENST00000341584.3:c.466T>C	14.37:g.94780520A>G		Somatic		Capture	Illumina HiSeq	Phase_I	93850273	A8K456|Q7Z2Q9	Silent	SNP	ENST00000341584.3	37	CCDS9924.1																																																																																				SERPINA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413065.1	NM_001756	
LPHN1	22859	hgsc.bcm.edu	37	19	14273691	14273691	+	Missense_Mutation	SNP	G	G	A			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr19:14273691G>A	ENST00000340736.6	-	6	1234	c.937C>T	c.(937-939)Cgc>Tgc	p.R313C	LPHN1_ENST00000591528.1_5'Flank|LPHN1_ENST00000361434.3_Missense_Mutation_p.R308C|CTB-55O6.12_ENST00000592086.1_RNA|CTB-55O6.12_ENST00000588387.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	313	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|heterophilic cell-cell adhesion (GO:0007157)|neuropeptide signaling pathway (GO:0007218)|positive regulation of synapse maturation (GO:0090129)	axon (GO:0030424)|cell junction (GO:0030054)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GATGCCGAGCGCTTGTCGTAA	0.622																																																	0			19											108.0	75.0	86.0					19																	14273691		2203	4300	6503	14134691	SO:0001583	missense	22859			AB020628	CCDS12307.1, CCDS32928.1	19p13.2	2014-08-08				ENSG00000072071		"""-"", ""GPCR / Class B : Orphans"""	20973	protein-coding gene	gene with protein product						10994649	Standard	NM_014921		Approved	KIAA0821, CIRL1, LEC2	uc010xnn.2	O94910		ENST00000340736.6:c.937C>T	19.37:g.14273691G>A	ENSP00000340688:p.Arg313Cys	Somatic		Capture	Illumina HiSeq	Phase_I	14134691	Q96IE7|Q9BU07|Q9HAR3	Missense_Mutation	SNP	ENST00000340736.6	37	CCDS32928.1	.	.	.	.	.	.	.	.	.	.	G	16.15	3.041371	0.55003	.	.	ENSG00000072071	ENST00000340736;ENST00000361434	D;D	0.89939	-2.59;-2.59	5.14	4.06	0.47325	Olfactomedin-like (3);	0.000000	0.85682	D	0.000000	D	0.94673	0.8282	M	0.88979	2.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.95175	0.8294	10	0.87932	D	0	.	12.7722	0.57427	0.0:0.0:0.8358:0.1642	.	308;313	O94910-2;O94910	.;LPHN1_HUMAN	C	313;308	ENSP00000340688:R313C;ENSP00000355328:R308C	ENSP00000340688:R313C	R	-	1	0	LPHN1	14134691	1.000000	0.71417	1.000000	0.80357	0.303000	0.27691	3.556000	0.53734	2.380000	0.81148	0.561000	0.74099	CGC		LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459696.1	NM_014921	
URI1	8725	hgsc.bcm.edu	37	19	30502057	30502057	+	Silent	SNP	A	A	G			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr19:30502057A>G	ENST00000542441.2	+	9	1389	c.1092A>G	c.(1090-1092)gaA>gaG	p.E364E	URI1_ENST00000312051.6_Silent_p.E324E|URI1_ENST00000392271.1_Silent_p.E288E|URI1_ENST00000360605.4_Silent_p.E346E			O94763	RMP_HUMAN	URI1, prefoldin-like chaperone	364					cellular response to growth factor stimulus (GO:0071363)|cellular response to steroid hormone stimulus (GO:0071383)|negative regulation of intrinsic apoptotic signaling pathway (GO:2001243)|negative regulation of phosphatase activity (GO:0010923)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|protein folding (GO:0006457)|regulation of cell growth (GO:0001558)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to virus (GO:0009615)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|DNA-directed RNA polymerase II, core complex (GO:0005665)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|prefoldin complex (GO:0016272)	chromatin binding (GO:0003682)|protein phosphatase inhibitor activity (GO:0004864)|RNA polymerase II transcription corepressor activity (GO:0001106)										AGAAAGAAGAAGCCAAACGTA	0.428																																																	0			19											83.0	88.0	87.0					19																	30502057		2203	4300	6503	35193897	SO:0001819	synonymous_variant	8725			AF091095	CCDS12420.1, CCDS58658.1	19q12	2012-04-17	2011-11-21	2011-11-21	ENSG00000105176	ENSG00000105176		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	13236	protein-coding gene	gene with protein product	"""unconventional prefoldin RPB5 interactor"", ""RPB5-mediating protein"", ""protein phosphatase 1, regulatory subunit 19"""	603494	"""chromosome 19 open reading frame 2"""	C19orf2		9878255, 9819440	Standard	NM_003796		Approved	RMP, NNX3, FLJ10575, URI, PPP1R19	uc002nsr.3	O94763		ENST00000542441.2:c.1092A>G	19.37:g.30502057A>G		Somatic		Capture	Illumina HiSeq	Phase_I	35193897	A8K805|H7BY42|Q8TC23|Q9UNU3	Silent	SNP	ENST00000542441.2	37	CCDS12420.1																																																																																				URI1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439756.1	NM_134447	
ZNF536	9745	hgsc.bcm.edu	37	19	30934550	30934550	+	Silent	SNP	C	C	T			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr19:30934550C>T	ENST00000355537.3	+	2	228	c.81C>T	c.(79-81)aaC>aaT	p.N27N		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	27					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CCGTCCTCAACGGCCAGTATG	0.637																																																	0			19											99.0	98.0	98.0					19																	30934550		2203	4300	6503	35626390	SO:0001819	synonymous_variant	9745				CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.81C>T	19.37:g.30934550C>T		Somatic		Capture	Illumina HiSeq	Phase_I	35626390	A2RU18	Silent	SNP	ENST00000355537.3	37	CCDS32984.1																																																																																				ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717	
ZNF536	9745	hgsc.bcm.edu	37	19	30934958	30934958	+	Silent	SNP	C	C	T			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr19:30934958C>T	ENST00000355537.3	+	2	636	c.489C>T	c.(487-489)tgC>tgT	p.C163C		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	163					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					GCCCGTACTGCGACCACAGGG	0.657																																																	0			19											41.0	37.0	39.0					19																	30934958		2203	4300	6503	35626798	SO:0001819	synonymous_variant	9745				CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.489C>T	19.37:g.30934958C>T		Somatic		Capture	Illumina HiSeq	Phase_I	35626798	A2RU18	Silent	SNP	ENST00000355537.3	37	CCDS32984.1																																																																																				ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717	
ZNF507	22847	hgsc.bcm.edu	37	19	32851490	32851490	+	Missense_Mutation	SNP	C	C	A			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr19:32851490C>A	ENST00000311921.4	+	4	2518	c.2326C>A	c.(2326-2328)Cac>Aac	p.H776N	ZNF507_ENST00000544431.1_Missense_Mutation_p.H776N|ZNF507_ENST00000355898.5_Missense_Mutation_p.H776N	NM_001136156.1|NM_014910.4	NP_001129628.1|NP_055725.2	Q8TCN5	ZN507_HUMAN	zinc finger protein 507	776					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(10)|ovary(1)|pancreas(1)|skin(2)|urinary_tract(1)	31	Esophageal squamous(110;0.162)					TGTCAGAAACCACAGGCGAAT	0.313																																																	0			19											147.0	141.0	143.0					19																	32851490		2203	4300	6503	37543330	SO:0001583	missense	22847			AB029007	CCDS32985.1	19q13.12	2008-02-05				ENSG00000168813		"""Zinc fingers, C2H2-type"""	23783	protein-coding gene	gene with protein product							Standard	NM_014910		Approved	KIAA1084	uc002ntd.3	Q8TCN5		ENST00000311921.4:c.2326C>A	19.37:g.32851490C>A	ENSP00000312277:p.His776Asn	Somatic		Capture	Illumina HiSeq	Phase_I	37543330	A8K911|Q2TBF1|Q6MZU0|Q9UPR8	Missense_Mutation	SNP	ENST00000311921.4	37	CCDS32985.1	.	.	.	.	.	.	.	.	.	.	C	29.3	4.998052	0.93227	.	.	ENSG00000168813	ENST00000355898;ENST00000311921;ENST00000544431	D;D;T	0.86865	-2.18;-2.18;0.65	5.57	5.57	0.84162	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	D	0.97170	0.9075	H	0.99820	4.81	0.52099	D	0.999949	D	0.89917	1.0	D	0.91635	0.999	D	0.99056	1.0829	10	0.87932	D	0	.	19.5547	0.95338	0.0:1.0:0.0:0.0	.	776	Q8TCN5	ZN507_HUMAN	N	776	ENSP00000348162:H776N;ENSP00000312277:H776N;ENSP00000441549:H776N	ENSP00000312277:H776N	H	+	1	0	ZNF507	37543330	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	7.383000	0.79741	2.606000	0.88127	0.650000	0.86243	CAC		ZNF507-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450301.3	NM_014910	
ZNF569	148266	hgsc.bcm.edu	37	19	37905300	37905300	+	Missense_Mutation	SNP	T	T	C			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr19:37905300T>C	ENST00000316950.6	-	6	817	c.260A>G	c.(259-261)gAg>gGg	p.E87G	ZNF569_ENST00000392149.2_Missense_Mutation_p.E87G|ZNF569_ENST00000592490.1_Missense_Mutation_p.S13G|ZNF569_ENST00000392150.2_5'UTR	NM_152484.2	NP_689697.2	Q5MCW4	ZN569_HUMAN	zinc finger protein 569	87			E -> G (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.E87G(1)		breast(5)|endometrium(4)|large_intestine(16)|lung(11)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	40			COAD - Colon adenocarcinoma(19;0.114)|Colorectal(19;0.177)			TTTCTGATGCTCATCAACTCC	0.303																																																	1	Substitution - Missense(1)	breast(1)	19											45.0	46.0	46.0					19																	37905300		2202	4298	6500	42597140	SO:0001583	missense	148266			AL833408	CCDS12503.1	19q13.12	2013-09-20			ENSG00000196437	ENSG00000196437		"""Zinc fingers, C2H2-type"", ""-"""	24737	protein-coding gene	gene with protein product		613904				12477932	Standard	NM_152484		Approved	FLJ32053, ZAP1	uc002ogi.3	Q5MCW4	OTTHUMG00000048172	ENST00000316950.6:c.260A>G	19.37:g.37905300T>C	ENSP00000325018:p.Glu87Gly	Somatic		Capture	Illumina HiSeq	Phase_I	42597140	A8K1S2|Q15925|Q17RR6|Q96MQ2	Missense_Mutation	SNP	ENST00000316950.6	37	CCDS12503.1	.	.	.	.	.	.	.	.	.	.	T	8.266	0.812358	0.16537	.	.	ENSG00000196437	ENST00000316950	T	0.08102	3.13	3.74	3.74	0.42951	.	0.788279	0.10321	N	0.688728	T	0.05640	0.0148	N	0.21373	0.66	0.80722	D	1	P	0.37781	0.608	B	0.32465	0.146	T	0.45934	-0.9227	10	0.24483	T	0.36	.	8.9857	0.35992	0.0:0.0:0.0:1.0	.	87	Q5MCW4	ZN569_HUMAN	G	87	ENSP00000325018:E87G	ENSP00000325018:E87G	E	-	2	0	ZNF569	42597140	0.105000	0.21958	0.962000	0.40283	0.340000	0.28889	2.999000	0.49473	1.695000	0.51148	0.482000	0.46254	GAG		ZNF569-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000109594.2	NM_152484	
KLK14	43847	hgsc.bcm.edu	37	19	51582707	51582707	+	Splice_Site	SNP	G	G	A	rs373226064		TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr19:51582707G>A	ENST00000156499.2	-	5	731	c.513C>T	c.(511-513)atC>atT	p.I171I	KLK14_ENST00000391802.1_Splice_Site_p.I171I			Q9P0G3	KLK14_HUMAN	kallikrein-related peptidase 14	171	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				epidermis morphogenesis (GO:0048730)|fertilization (GO:0009566)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|positive regulation of G-protein coupled receptor protein signaling pathway (GO:0045745)|proteolysis (GO:0006508)|seminal clot liquefaction (GO:0070684)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase activity (GO:0004252)			kidney(4)|large_intestine(1)|lung(4)|skin(1)|urinary_tract(1)	11		all_neural(266;0.0199)		OV - Ovarian serous cystadenocarcinoma(262;0.00328)|GBM - Glioblastoma multiforme(134;0.00422)		AGTCCTCACCGATGGGGCTGG	0.672																																					GBM(117;2161 2172 2448 22911)												0			19								0,3838		0,0,1919	27.0	29.0	29.0		513	-9.8	0.0	19		29	1,8303		0,1,4151	no	coding-synonymous-near-splice	KLK14	NM_022046.4		0,1,6070	AA,AG,GG		0.012,0.0,0.0082		171/268	51582707	1,12141	1919	4152	6071	56274519	SO:0001630	splice_region_variant	43847			AF283670	CCDS12823.2	19q13.3-q13.4	2008-02-05	2006-10-27		ENSG00000129437	ENSG00000129437		"""Kallikreins"""	6362	protein-coding gene	gene with protein product		606135	"""kallikrein 14"""			16800724, 16800723	Standard	XM_006723224		Approved	KLK-L6	uc002pvs.1	Q9P0G3	OTTHUMG00000143721	ENST00000156499.2:c.514+1C>T	19.37:g.51582707G>A		Somatic		Capture	Illumina HiSeq	Phase_I	56274519	A7UNK5|Q1RMZ2|Q6B089	Silent	SNP	ENST00000156499.2	37	CCDS12823.2																																																																																				KLK14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000289774.2	NM_022046	Silent
SIGLECL1	284369	hgsc.bcm.edu	37	19	51770669	51770669	+	Silent	SNP	G	G	A	rs369648100		TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr19:51770669G>A	ENST00000316401.7	+	5	834	c.453G>A	c.(451-453)gcG>gcA	p.A151A	SIGLECL1_ENST00000597824.1_Silent_p.A57A|CTD-3187F8.2_ENST00000597569.1_RNA|SIGLECL1_ENST00000593968.1_3'UTR	NM_173635.1	NP_775906.1	Q96PQ1	SIG12_HUMAN	SIGLEC family like 1	515	Ig-like V-type 2.				cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)										AAGCTGCAGCGATCAGAGCAA	0.468																																																	0			19						G		0,4406		0,0,2203	117.0	118.0	117.0		453	-6.6	0.0	19		117	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	C19orf75	NM_173635.1		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		151/198	51770669	1,13005	2203	4300	6503	56462481	SO:0001819	synonymous_variant	0			AK097554	CCDS12827.1	19q13.33	2013-03-20	2012-07-20	2012-07-20	ENSG00000179213	ENSG00000179213			26856	protein-coding gene	gene with protein product			"""chromosome 19 open reading frame 75"", ""sialic acid binding Ig-like lectin 23, pseudogene"", ""sialic acid binding Ig-like lectin, pseudogene 7"""	C19orf75, SIGLEC23P, SIGLECP7			Standard	NM_173635		Approved	FLJ40235	uc002pwb.1	Q8N7X8	OTTHUMG00000182881	ENST00000316401.7:c.453G>A	19.37:g.51770669G>A		Somatic		Capture	Illumina HiSeq	Phase_I	56462481	Q8IYH7	Silent	SNP	ENST00000316401.7	37	CCDS12827.1																																																																																				SIGLECL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464161.2	NM_173635	
FPR1	2357	hgsc.bcm.edu	37	19	52249305	52249305	+	Missense_Mutation	SNP	C	C	T	rs140083445		TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr19:52249305C>T	ENST00000595042.1	-	3	1084	c.943G>A	c.(943-945)Gcc>Acc	p.A315T	FPR1_ENST00000304748.4_Missense_Mutation_p.A315T	NM_001193306.1	NP_001180235.1	P21462	FPR1_HUMAN	formyl peptide receptor 1	315					activation of MAPK activity (GO:0000187)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|cellular component movement (GO:0006928)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|nitric oxide mediated signal transduction (GO:0007263)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|signal transduction (GO:0007165)	endosome (GO:0005768)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	N-formyl peptide receptor activity (GO:0004982)|receptor activity (GO:0004872)			endometrium(2)|kidney(2)|large_intestine(2)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|stomach(3)	20		all_neural(266;0.0189)|Medulloblastoma(540;0.146)		GBM - Glioblastoma multiforme(134;0.00106)|OV - Ovarian serous cystadenocarcinoma(262;0.018)	Nedocromil(DB00716)	GCGGGAAGGGCGTGGATCAGC	0.562													C|||	1	0.000199681	0.0008	0.0	5008	,	,		14000	0.0		0.0	False		,,,				2504	0.0																0			19						C	THR/ALA,THR/ALA	3,4403		0,3,2200	103.0	95.0	98.0		943,943	2.5	1.0	19	dbSNP_134	98	0,8600		0,0,4300	yes	missense,missense	FPR1	NM_001193306.1,NM_002029.3	58,58	0,3,6500	TT,TC,CC		0.0,0.0681,0.0231	benign,benign	315/351,315/351	52249305	3,13003	2203	4300	6503	56941117	SO:0001583	missense	2357			M60627	CCDS12839.1	19q13.41	2014-09-17				ENSG00000171051		"""GPCR / Class A : Formyl peptide receptors"""	3826	protein-coding gene	gene with protein product		136537				2161213, 12595898	Standard	NM_001193306		Approved	FPR, FMLP	uc002pxq.3	P21462		ENST00000595042.1:c.943G>A	19.37:g.52249305C>T	ENSP00000471493:p.Ala315Thr	Somatic		Capture	Illumina HiSeq	Phase_I	56941117	Q14939|Q7Z6A4|Q86U52|Q9NS48	Missense_Mutation	SNP	ENST00000595042.1	37	CCDS12839.1	.	.	.	.	.	.	.	.	.	.	.	10.86	1.470744	0.26423	6.81E-4	0.0	ENSG00000171051	ENST00000304748	T	0.29917	1.55	3.55	2.52	0.30459	.	0.284392	0.28659	N	0.014569	T	0.11623	0.0283	N	0.02539	-0.55	0.25938	N	0.982917	B	0.06786	0.001	B	0.06405	0.002	T	0.21415	-1.0246	10	0.33141	T	0.24	.	8.6857	0.34236	0.8061:0.1939:0.0:0.0	.	315	P21462	FPR1_HUMAN	T	315	ENSP00000302707:A315T	ENSP00000302707:A315T	A	-	1	0	FPR1	56941117	0.875000	0.30112	0.981000	0.43875	0.211000	0.24417	1.867000	0.39499	0.497000	0.27926	-0.272000	0.10252	GCC		FPR1-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466905.1	NM_002029	
BIRC8	112401	hgsc.bcm.edu	37	19	53793269	53793269	+	Missense_Mutation	SNP	C	C	T			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr19:53793269C>T	ENST00000426466.1	-	1	1606	c.359G>A	c.(358-360)cGa>cAa	p.R120Q		NM_033341.4	NP_203127.3	Q96P09	BIRC8_HUMAN	baculoviral IAP repeat containing 8	120					apoptotic process (GO:0006915)	cytoplasm (GO:0005737)	zinc ion binding (GO:0008270)	p.R120Q(1)		NS(1)|breast(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(1)|lung(10)|urinary_tract(1)	19				GBM - Glioblastoma multiforme(134;0.00304)		AAATCCCATTCGTATAGCTTC	0.383																																																	1	Substitution - Missense(1)	NS(1)	19											189.0	185.0	187.0					19																	53793269		2203	4300	6503	58485081	SO:0001583	missense	112401			AF164682	CCDS12863.1	19q13.3-q13.4	2011-01-25	2011-01-25			ENSG00000163098		"""Baculoviral IAP repeat containing"""	14878	protein-coding gene	gene with protein product	"""IAP-like protein 2"", ""inhibitor of apoptosis-like protein 2"""		"""baculoviral IAP repeat-containing 8"""			11390657	Standard	NM_033341		Approved	ILP-2, hILP2	uc002qbk.3	Q96P09		ENST00000426466.1:c.359G>A	19.37:g.53793269C>T	ENSP00000412957:p.Arg120Gln	Somatic		Capture	Illumina HiSeq	Phase_I	58485081	Q6IPY1|Q96RW5	Missense_Mutation	SNP	ENST00000426466.1	37	CCDS12863.1	.	.	.	.	.	.	.	.	.	.	C	0.204	-1.042575	0.01997	.	.	ENSG00000163098	ENST00000426466	T	0.33654	1.4	0.502	-1.0	0.10196	.	.	.	.	.	T	0.15955	0.0384	L	0.34521	1.04	0.09310	N	1	B	0.30511	0.282	B	0.14578	0.011	T	0.32025	-0.9922	9	0.06625	T	0.88	-16.4135	1.9268	0.03319	0.2682:0.25:0.0:0.4818	.	120	Q96P09	BIRC8_HUMAN	Q	120	ENSP00000412957:R120Q	ENSP00000412957:R120Q	R	-	2	0	BIRC8	58485081	0.639000	0.27234	0.000000	0.03702	0.001000	0.01503	0.452000	0.21795	-1.280000	0.02402	-0.851000	0.03033	CGA		BIRC8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464357.1	NM_033341	
NLRP11	204801	hgsc.bcm.edu	37	19	56303710	56303710	+	Missense_Mutation	SNP	T	T	C			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr19:56303710T>C	ENST00000589093.1	-	7	2563	c.2470A>G	c.(2470-2472)Acg>Gcg	p.T824A	NLRP11_ENST00000592953.1_Missense_Mutation_p.T725A|NLRP11_ENST00000589824.2_Missense_Mutation_p.T770A|NLRP11_ENST00000360133.3_Missense_Mutation_p.T770A|NLRP11_ENST00000443188.1_Missense_Mutation_p.T824A			P59045	NAL11_HUMAN	NLR family, pyrin domain containing 11	824							ATP binding (GO:0005524)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, reduced ascorbate as one donor, and incorporation of one atom of oxygen (GO:0016715)|poly(A) RNA binding (GO:0044822)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)	66		Colorectal(82;0.0002)		GBM - Glioblastoma multiforme(193;0.0325)		AAGGGAAACGTCACATGCAAC	0.483																																																	0			19											201.0	176.0	185.0					19																	56303710		2203	4300	6503	60995522	SO:0001583	missense	204801			AY095145	CCDS12935.1, CCDS74458.1	19q13.43	2008-02-05	2006-12-08	2006-12-08		ENSG00000179873		"""Nucleotide-binding domain and leucine rich repeat containing"""	22945	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 11"""	609664	"""NACHT, leucine rich repeat and PYD containing 11"""	NALP11		12563287, 12019269	Standard	NM_145007		Approved	PYPAF6, NOD17, PAN10, CLR19.6	uc010ygf.2	P59045		ENST00000589093.1:c.2470A>G	19.37:g.56303710T>C	ENSP00000466285:p.Thr824Ala	Somatic		Capture	Illumina HiSeq	Phase_I	60995522	C9JSF5|Q2TV85|Q2TV86|Q53ZZ0|Q8NBF5	Missense_Mutation	SNP	ENST00000589093.1	37	CCDS12935.1	.	.	.	.	.	.	.	.	.	.	T	6.420	0.445561	0.12164	.	.	ENSG00000179873	ENST00000443188;ENST00000360133	T;T	0.48836	0.8;0.8	2.18	-4.36	0.03645	.	.	.	.	.	T	0.26955	0.0660	N	0.14661	0.345	0.09310	N	1	B;P	0.36378	0.09;0.55	B;B	0.41691	0.046;0.364	T	0.22487	-1.0215	9	0.66056	D	0.02	.	1.0411	0.01559	0.4876:0.1279:0.1643:0.2202	.	824;770	P59045;P59045-2	NAL11_HUMAN;.	A	824;770	ENSP00000409898:T824A;ENSP00000353251:T770A	ENSP00000353251:T770A	T	-	1	0	NLRP11	60995522	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.012000	0.03649	-2.085000	0.00864	-1.221000	0.01599	ACG		NLRP11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000453657.1	NM_145007	
NLRP4	147945	hgsc.bcm.edu	37	19	56369446	56369446	+	Silent	SNP	C	C	T			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr19:56369446C>T	ENST00000301295.6	+	3	1109	c.687C>T	c.(685-687)gtC>gtT	p.V229V	NLRP4_ENST00000346986.5_Silent_p.V229V|NLRP4_ENST00000587891.1_Silent_p.V154V	NM_134444.4	NP_604393.2	Q96MN2	NALP4_HUMAN	NLR family, pyrin domain containing 4	229	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				inflammatory response (GO:0006954)|innate immune response (GO:0045087)|positive regulation of type I interferon production (GO:0032481)|regulation of type I interferon production (GO:0032479)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	ATP binding (GO:0005524)			breast(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(3)|ovary(6)|pancreas(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(8)	42		Colorectal(82;0.0002)|Ovarian(87;0.221)		GBM - Glioblastoma multiforme(193;0.0606)		TCTTGTTCGTCATCGACAGCT	0.557																																																	0			19											81.0	81.0	81.0					19																	56369446		2203	4300	6503	61061258	SO:0001819	synonymous_variant	147945			AF479747	CCDS12936.1	19q13.43	2009-03-27	2006-12-08	2006-12-08				"""Nucleotide-binding domain and leucine rich repeat containing"""	22943	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 4"", ""cancer/testis antigen 58"""	609645	"""NACHT, leucine rich repeat and PYD containing 4"""	NALP4		12563287, 12019269	Standard	NM_134444		Approved	PYPAF4, FLJ32126, PAN2, RNH2, CLR19.5, CT58	uc002qmd.4	Q96MN2		ENST00000301295.6:c.687C>T	19.37:g.56369446C>T		Somatic		Capture	Illumina HiSeq	Phase_I	61061258	Q86W87|Q96AY6	Silent	SNP	ENST00000301295.6	37	CCDS12936.1																																																																																				NLRP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457367.2	NM_134444	
PI15	51050	hgsc.bcm.edu	37	8	75761446	75761446	+	Silent	SNP	T	T	C			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr8:75761446T>C	ENST00000260113.2	+	6	914	c.735T>C	c.(733-735)tgT>tgC	p.C245C	RP11-758M4.4_ENST00000518128.1_RNA|RP11-758M4.4_ENST00000523860.1_RNA|RP11-758M4.4_ENST00000522914.1_RNA|PI15_ENST00000523773.1_Silent_p.C245C	NM_015886.3	NP_056970.1	O43692	PI15_HUMAN	peptidase inhibitor 15	245						extracellular vesicular exosome (GO:0070062)	peptidase inhibitor activity (GO:0030414)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(3)|large_intestine(6)|lung(14)|ovary(1)|pancreas(1)|skin(1)	30	Breast(64;0.137)		BRCA - Breast invasive adenocarcinoma(89;0.104)|Epithelial(68;0.118)			ACAATCTGTGTTTTCCAGGAG	0.398																																																	0			8											189.0	163.0	172.0					8																	75761446		2203	4300	6503	75924001	SO:0001819	synonymous_variant	51050			D45027	CCDS6218.1	8q13.3	2005-08-17	2005-08-17		ENSG00000137558	ENSG00000137558			8946	protein-coding gene	gene with protein product		607076	"""protease inhibitor 15"""			8882727, 9473672	Standard	XM_005251255		Approved	P25TI	uc003yal.3	O43692	OTTHUMG00000164528	ENST00000260113.2:c.735T>C	8.37:g.75761446T>C		Somatic		Capture	Illumina HiSeq	Phase_I	75924001	Q68CY1	Silent	SNP	ENST00000260113.2	37	CCDS6218.1																																																																																				PI15-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000379115.1	NM_015886	
JRK	8629	hgsc.bcm.edu	37	8	143746191	143746191	+	RNA	SNP	C	C	T	rs369974690	byFrequency	TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr8:143746191C>T	ENST00000507178.2	-	0	1619							O75564	JERKY_HUMAN	Jrk homolog (mouse)							nucleus (GO:0005634)	DNA binding (GO:0003677)					all_cancers(97;3.96e-12)|all_epithelial(106;1.19e-08)|Lung NSC(106;0.000413)|all_lung(105;0.00106)|Medulloblastoma(13;0.00276)|all_neural(13;0.00559)|Ovarian(258;0.0254)|Acute lymphoblastic leukemia(118;0.155)	Acute lymphoblastic leukemia(644;2.31e-05)				gaagctggcccgggcaggagg	0.657																																																	0			8											8.0	9.0	9.0					8																	143746191		1946	4137	6083	143743193			8629			AF072467	CCDS75796.1, CCDS75797.1	8q24.3	2014-03-28	2014-03-28			ENSG00000234616			6199	protein-coding gene	gene with protein product		603210	"""jerky (mouse) homolog"", ""jerky homolog (mouse)"""			9675132	Standard	NM_003724		Approved	JH8, jerky	uc003ywo.3	O75564			8.37:g.143746191C>T		Somatic		Capture	Illumina HiSeq	Phase_I	143743193	O75565	Silent	SNP	ENST00000507178.2	37																																																																																					JRK-003	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000362914.1	NM_003724	
ZNF707	286075	hgsc.bcm.edu	37	8	144776109	144776109	+	Silent	SNP	A	A	G	rs11786757	byFrequency	TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr8:144776109A>G	ENST00000532205.1	+	8	1424	c.525A>G	c.(523-525)tcA>tcG	p.S175S	ZNF707_ENST00000358656.4_Silent_p.S175S|ZNF707_ENST00000418203.2_Silent_p.S175S|ZNF707_ENST00000454097.1_Silent_p.S175S|RP11-429J17.2_ENST00000531565.1_RNA|ZNF707_ENST00000532158.1_Silent_p.S175S			Q96C28	ZN707_HUMAN	zinc finger protein 707	175					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)	1	all_cancers(97;3.74e-11)|all_epithelial(106;2.62e-09)|Lung NSC(106;0.00013)|all_lung(105;0.000374)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;5.6e-41)|Epithelial(56;1.02e-39)|all cancers(56;9.65e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.146)			TAGAGCTGTCATTCATCTGCG	0.687													G|||	4971	0.992612	0.9728	0.9986	5008	,	,		13844	1.0		1.0	False		,,,				2504	1.0																0			8						G	,,	4076,80		1998,80,0	12.0	15.0	14.0		525,525,525	-4.1	0.0	8	dbSNP_120	14	8401,1		4200,1,0	no	coding-synonymous,coding-synonymous,coding-synonymous	ZNF707	NM_001100598.1,NM_001100599.1,NM_173831.3	,,	6198,81,0	GG,GA,AA		0.0119,1.9249,0.645	,,	175/372,175/372,175/372	144776109	12477,81	2078	4201	6279	144848097	SO:0001819	synonymous_variant	286075			AK001126	CCDS47932.1	8q24.3	2013-01-08				ENSG00000181135		"""Zinc fingers, C2H2-type"", ""-"""	27815	protein-coding gene	gene with protein product						12477932	Standard	NM_173831		Approved		uc010mfi.3	Q96C28		ENST00000532205.1:c.525A>G	8.37:g.144776109A>G		Somatic		Capture	Illumina HiSeq	Phase_I	144848097	A8K317|B3KNY1|D3DWK7	Silent	SNP	ENST00000532205.1	37	CCDS47932.1																																																																																				ZNF707-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382197.1	NM_173831	
RERE	473	hgsc.bcm.edu	37	1	8421203	8421203	+	Silent	SNP	T	T	C	rs13596	byFrequency	TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr1:8421203T>C	ENST00000337907.3	-	19	2998	c.2364A>G	c.(2362-2364)ccA>ccG	p.P788P	RERE_ENST00000377464.1_Silent_p.P520P|RERE_ENST00000476556.1_Silent_p.P234P|RERE_ENST00000400907.2_Intron|RERE_ENST00000400908.2_Silent_p.P788P	NM_012102.3	NP_036234.3	Q9P2R6	RERE_HUMAN	arginine-glutamic acid dipeptide (RE) repeats	788	Pro-rich.				chromatin remodeling (GO:0006338)|multicellular organismal development (GO:0007275)|NLS-bearing protein import into nucleus (GO:0006607)|transcription, DNA-templated (GO:0006351)	histone deacetylase complex (GO:0000118)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|poly-glutamine tract binding (GO:0008267)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|liver(1)|lung(16)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	49	Ovarian(185;0.0661)	all_epithelial(116;1.17e-21)|all_lung(118;1.4e-06)|Lung NSC(185;3.06e-06)|Renal(390;0.000147)|Breast(348;0.000206)|Colorectal(325;0.00187)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;9.64e-67)|GBM - Glioblastoma multiforme(8;9.89e-33)|Colorectal(212;1.45e-07)|COAD - Colon adenocarcinoma(227;3.42e-05)|Kidney(185;6e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000533)|KIRC - Kidney renal clear cell carcinoma(229;0.00106)|STAD - Stomach adenocarcinoma(132;0.00118)|READ - Rectum adenocarcinoma(331;0.0419)|Lung(427;0.195)		TGGGAGCCTGTGGCTGGTTAG	0.731													t|||	4006	0.79992	0.8411	0.7925	5008	,	,		12992	0.9206		0.6819	False		,,,				2504	0.7464																0			1						T	,,	3390,752		1409,572,90	6.0	7.0	7.0		2364,702,2364	-10.0	0.0	1	dbSNP_52	7	5605,2589		1942,1721,434	no	coding-synonymous,coding-synonymous,coding-synonymous	RERE	NM_001042681.1,NM_001042682.1,NM_012102.3	,,	3351,2293,524	CC,CT,TT		31.5963,18.1555,27.0833	,,	788/1567,234/1013,788/1567	8421203	8995,3341	2071	4097	6168	8343790	SO:0001819	synonymous_variant	473			AF016005	CCDS95.1, CCDS41243.1	1p36.23	2013-01-25			ENSG00000142599	ENSG00000142599		"""GATA zinc finger domain containing"""	9965	protein-coding gene	gene with protein product		605226		ATN1L		10814707, 10729226	Standard	NM_012102		Approved	KIAA0458, ARP, ARG, DNB1	uc001apf.3	Q9P2R6	OTTHUMG00000001765	ENST00000337907.3:c.2364A>G	1.37:g.8421203T>C		Somatic		Capture	Illumina HiSeq	Phase_I	8343790	O43393|O75046|O75359|Q5VXL9|Q6P6B9|Q9Y2W4	Silent	SNP	ENST00000337907.3	37	CCDS95.1																																																																																				RERE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004916.1		
LRRC38	126755	hgsc.bcm.edu	37	1	13802326	13802326	+	Silent	SNP	G	G	A			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr1:13802326G>A	ENST00000376085.3	-	2	1327	c.873C>T	c.(871-873)gaC>gaT	p.D291D		NM_001010847.1	NP_001010847.1	Q5VT99	LRC38_HUMAN	leucine rich repeat containing 38	291					ion transport (GO:0006811)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)											AGTCATCCTTGTCCTCGTCTT	0.557																																																	0			1																																								13674913	SO:0001819	synonymous_variant	126755			BC016048	CCDS53269.1	1p36.21	2008-02-05			ENSG00000162494	ENSG00000162494			27005	protein-coding gene	gene with protein product		615212				12477932	Standard	NM_001010847		Approved		uc001avb.3	Q5VT99	OTTHUMG00000007918	ENST00000376085.3:c.873C>T	1.37:g.13802326G>A		Somatic		Capture	Illumina HiSeq	Phase_I	13674913	Q96B32	Silent	SNP	ENST00000376085.3	37	CCDS53269.1																																																																																				LRRC38-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021793.1		
CDA	978	hgsc.bcm.edu	37	1	20931490	20931490	+	Missense_Mutation	SNP	T	T	C			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr1:20931490T>C	ENST00000375071.3	+	2	406	c.224T>C	c.(223-225)gTc>gCc	p.V75A	CDA_ENST00000461985.1_3'UTR	NM_001785.2	NP_001776.1	P32320	CDD_HUMAN	cytidine deaminase	75	CMP/dCMP deaminase zinc-binding.				cell surface receptor signaling pathway (GO:0007166)|cytidine deamination (GO:0009972)|cytosine metabolic process (GO:0019858)|negative regulation of cell growth (GO:0030308)|negative regulation of nucleotide metabolic process (GO:0045980)|nucleobase-containing small molecule metabolic process (GO:0055086)|protein homotetramerization (GO:0051289)|pyrimidine nucleobase metabolic process (GO:0006206)|pyrimidine nucleoside salvage (GO:0043097)|pyrimidine-containing compound salvage (GO:0008655)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular region (GO:0005576)	cytidine deaminase activity (GO:0004126)|nucleoside binding (GO:0001882)|protein homodimerization activity (GO:0042803)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|stomach(1)	7		Lung NSC(340;1.75e-08)|all_lung(284;5.99e-08)|Colorectal(325;3.46e-05)|Renal(390;0.000147)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0182)|GBM - Glioblastoma multiforme(114;1.06e-08)|COAD - Colon adenocarcinoma(152;1.22e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000148)|Kidney(64;0.000184)|KIRC - Kidney renal clear cell carcinoma(64;0.0027)|STAD - Stomach adenocarcinoma(196;0.00308)|READ - Rectum adenocarcinoma(331;0.0652)|Lung(427;0.199)	Azacitidine(DB00928)|Capecitabine(DB01101)|Cytarabine(DB00987)|Gemcitabine(DB00441)	CAGAAGGCCGTCTCAGAAGGG	0.507																																					Pancreas(74;49 1356 2772 27818 40529)												0			1											100.0	88.0	92.0					1																	20931490		2203	4300	6503	20804077	SO:0001583	missense	978			BC054036	CCDS210.1	1p36.2-p35	2008-02-05			ENSG00000158825	ENSG00000158825	3.5.4.5		1712	protein-coding gene	gene with protein product		123920				8422236, 9878810	Standard	NM_001785		Approved	CDD	uc001bdk.3	P32320	OTTHUMG00000002845	ENST00000375071.3:c.224T>C	1.37:g.20931490T>C	ENSP00000364212:p.Val75Ala	Somatic		Capture	Illumina HiSeq	Phase_I	20804077		Missense_Mutation	SNP	ENST00000375071.3	37	CCDS210.1	.	.	.	.	.	.	.	.	.	.	T	25.5	4.640664	0.87859	.	.	ENSG00000158825	ENST00000375071	T	0.45276	0.9	5.74	5.74	0.90152	APOBEC/CMP deaminase, zinc-binding (1);Cytidine deaminase-like (1);CMP/dCMP deaminase, zinc-binding (1);	0.235598	0.44097	D	0.000486	T	0.65606	0.2707	M	0.86651	2.83	0.40289	D	0.978481	P	0.51147	0.942	P	0.61070	0.883	T	0.72944	-0.4138	10	0.87932	D	0	.	12.4306	0.55571	0.0:0.0:0.0:1.0	.	75	P32320	CDD_HUMAN	A	75	ENSP00000364212:V75A	ENSP00000364212:V75A	V	+	2	0	CDA	20804077	1.000000	0.71417	0.999000	0.59377	0.969000	0.65631	6.790000	0.75115	2.188000	0.69820	0.454000	0.30748	GTC		CDA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000007965.1	NM_001785	
GRHL3	57822	hgsc.bcm.edu	37	1	24668617	24668617	+	Missense_Mutation	SNP	G	G	A	rs375437963		TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr1:24668617G>A	ENST00000350501.5	+	9	1187	c.1060G>A	c.(1060-1062)Gta>Ata	p.V354I	GRHL3_ENST00000236255.4_Missense_Mutation_p.V359I|GRHL3_ENST00000356046.2_Missense_Mutation_p.V308I|GRHL3_ENST00000342072.4_Missense_Mutation_p.V261I|GRHL3_ENST00000361548.4_Missense_Mutation_p.V354I	NM_198174.2	NP_937817.3	Q8TE85	GRHL3_HUMAN	grainyhead-like 3 (Drosophila)	354					central nervous system development (GO:0007417)|cochlea morphogenesis (GO:0090103)|ectoderm development (GO:0007398)|epidermis development (GO:0008544)|establishment of planar polarity (GO:0001736)|eyelid development in camera-type eye (GO:0061029)|pattern specification process (GO:0007389)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of actin cytoskeleton organization (GO:0032956)|wound healing (GO:0042060)	nucleus (GO:0005634)	DNA binding (GO:0003677)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)			breast(1)|central_nervous_system(1)|kidney(1)|large_intestine(3)|lung(5)|ovary(1)|pancreas(3)|prostate(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20		Colorectal(325;3.46e-05)|Renal(390;0.0007)|Lung NSC(340;0.00171)|all_lung(284;0.00226)|Ovarian(437;0.00348)|Breast(348;0.0126)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.19)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;8.72e-25)|Colorectal(126;4.38e-08)|COAD - Colon adenocarcinoma(152;1.84e-06)|GBM - Glioblastoma multiforme(114;0.000132)|BRCA - Breast invasive adenocarcinoma(304;0.00105)|STAD - Stomach adenocarcinoma(196;0.00151)|KIRC - Kidney renal clear cell carcinoma(1967;0.00377)|READ - Rectum adenocarcinoma(331;0.0656)|Lung(427;0.143)		GTTCATCGGCGTAAACTGTCT	0.577																																																	0			1						G	ILE/VAL,ILE/VAL,ILE/VAL,ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	108.0	111.0	110.0		1060,1060,1075,922	3.8	0.8	1		110	0,8600		0,0,4300	no	missense,missense,missense,missense	GRHL3	NM_198174.2,NM_198173.2,NM_021180.3,NM_001195010.1	29,29,29,29	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	benign,benign,benign,benign	354/627,354/603,359/608,308/557	24668617	1,13005	2203	4300	6503	24541204	SO:0001583	missense	57822			AY231161	CCDS251.1, CCDS252.1, CCDS44088.1, CCDS252.2, CCDS53284.1	1p36	2008-02-05	2005-07-11	2005-07-11	ENSG00000158055	ENSG00000158055			25839	protein-coding gene	gene with protein product		608317	"""transcription factor CP2-like 4"""	TFCP2L4		12549979	Standard	NM_021180		Approved	SOM	uc021oiw.1	Q8TE85	OTTHUMG00000003040	ENST00000350501.5:c.1060G>A	1.37:g.24668617G>A	ENSP00000288955:p.Val354Ile	Somatic		Capture	Illumina HiSeq	Phase_I	24541204	A2A297|B2RCL1|G3XAF0|Q5TH78|Q86Y06|Q8N407	Missense_Mutation	SNP	ENST00000350501.5	37	CCDS252.2	.	.	.	.	.	.	.	.	.	.	G	12.62	1.993043	0.35131	2.27E-4	0.0	ENSG00000158055	ENST00000361548;ENST00000342072;ENST00000350501;ENST00000356046;ENST00000236255	T;T;T;T;T	0.19250	2.16;2.16;2.16;2.16;2.16	5.65	3.8	0.43715	.	0.198562	0.45126	D	0.000382	T	0.15435	0.0372	L	0.32530	0.975	0.49582	D	0.9998	B;B;B	0.24882	0.113;0.0;0.093	B;B;B	0.13407	0.009;0.001;0.005	T	0.04373	-1.0956	10	0.44086	T	0.13	-29.3575	10.5268	0.44954	0.1693:0.0:0.8307:0.0	.	308;359;354	A2A297;Q8TE85-2;G3XAF0	.;.;.	I	354;261;354;308;359	ENSP00000354943:V354I;ENSP00000340543:V261I;ENSP00000288955:V354I;ENSP00000348333:V308I;ENSP00000236255:V359I	ENSP00000236255:V359I	V	+	1	0	GRHL3	24541204	0.995000	0.38212	0.763000	0.31416	0.397000	0.30659	2.322000	0.43814	0.953000	0.37825	0.655000	0.94253	GTA		GRHL3-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000009047.2	NM_021180	
LRRC7	57554	hgsc.bcm.edu	37	1	70504190	70504190	+	Missense_Mutation	SNP	G	G	A			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr1:70504190G>A	ENST00000035383.5	+	19	2599	c.2569G>A	c.(2569-2571)Gct>Act	p.A857T	LRRC7_ENST00000415775.2_Missense_Mutation_p.A141T|LRRC7_ENST00000310961.5_Missense_Mutation_p.A862T	NM_020794.2	NP_065845.1	Q96NW7	LRRC7_HUMAN	leucine rich repeat containing 7	857						cell junction (GO:0030054)|cytoplasm (GO:0005737)|postsynaptic membrane (GO:0045211)		p.A857T(1)		breast(11)|central_nervous_system(3)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(25)|liver(3)|lung(81)|ovary(9)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(2)	162						AGACAGGACCGCTTTTCCTTC	0.468																																																	1	Substitution - Missense(1)	endometrium(1)	1											80.0	89.0	86.0					1																	70504190		2203	4300	6503	70276778	SO:0001583	missense	57554				CCDS645.1	1p31.1	2008-02-05			ENSG00000033122	ENSG00000033122			18531	protein-coding gene	gene with protein product		614453				12525888	Standard	NM_020794		Approved	KIAA1365, densin-180	uc001dep.3	Q96NW7	OTTHUMG00000059194	ENST00000035383.5:c.2569G>A	1.37:g.70504190G>A	ENSP00000035383:p.Ala857Thr	Somatic		Capture	Illumina HiSeq	Phase_I	70276778	Q5VXC2|Q5VXC3|Q68D07|Q86VE8|Q8WX20|Q9P2I2	Missense_Mutation	SNP	ENST00000035383.5	37	CCDS645.1	.	.	.	.	.	.	.	.	.	.	G	23.6	4.437615	0.83885	.	.	ENSG00000033122	ENST00000310961;ENST00000035383;ENST00000415775;ENST00000370957	T;T;T	0.56275	0.47;0.57;1.68	5.92	5.92	0.95590	.	0.000000	0.85682	D	0.000000	T	0.62563	0.2438	L	0.53249	1.67	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.998;0.996;0.99	T	0.53258	-0.8464	10	0.28530	T	0.3	.	19.3033	0.94151	0.0:0.0:1.0:0.0	.	141;857;857	F8WE45;Q96NW7-2;Q96NW7	.;.;LRRC7_HUMAN	T	862;857;141;680	ENSP00000309245:A862T;ENSP00000035383:A857T;ENSP00000394867:A141T	ENSP00000035383:A857T	A	+	1	0	LRRC7	70276778	1.000000	0.71417	0.998000	0.56505	0.857000	0.48899	9.447000	0.97595	2.809000	0.96659	0.467000	0.42956	GCT		LRRC7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131261.1	NM_020794	
PIGK	10026	hgsc.bcm.edu	37	1	77634963	77634963	+	Silent	SNP	C	C	T			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr1:77634963C>T	ENST00000370812.3	-	4	380	c.357G>A	c.(355-357)gtG>gtA	p.V119V	PIGK_ENST00000478391.1_Intron|PIGK_ENST00000445065.1_Intron|PIGK_ENST00000359130.1_Silent_p.V119V|PIGK_ENST00000370813.5_Intron	NM_005482.2	NP_005473.1	Q92643	GPI8_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class K	119					attachment of GPI anchor to protein (GO:0016255)|C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)	endoplasmic reticulum membrane (GO:0005789)|GPI-anchor transamidase complex (GO:0042765)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)	cysteine-type endopeptidase activity (GO:0004197)|GPI-anchor transamidase activity (GO:0003923)|protein disulfide isomerase activity (GO:0003756)			endometrium(5)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(2)	19						TTCTATAATCCACTTCCACAT	0.343																																																	0			1											98.0	86.0	90.0					1																	77634963		2203	4299	6502	77407551	SO:0001819	synonymous_variant	10026			AF022913	CCDS674.1	1p31.1	2013-02-26	2006-06-28		ENSG00000142892	ENSG00000142892		"""Phosphatidylinositol glycan anchor biosynthesis"""	8965	protein-coding gene	gene with protein product	"""GPI transamidase subunit"""	605087	"""phosphatidylinositol glycan, class K"""			9356492	Standard	NM_005482		Approved	hGPI8, GPI8	uc001dhk.3	Q92643	OTTHUMG00000009686	ENST00000370812.3:c.357G>A	1.37:g.77634963C>T		Somatic		Capture	Illumina HiSeq	Phase_I	77407551	B2R7K3|B4E2M3|O14822|Q5TG77	Silent	SNP	ENST00000370812.3	37	CCDS674.1																																																																																				PIGK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000026687.1	NM_005482	
ZNF644	84146	hgsc.bcm.edu	37	1	91404921	91404921	+	Missense_Mutation	SNP	T	T	C			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr1:91404921T>C	ENST00000370440.1	-	3	2207	c.1990A>G	c.(1990-1992)Aca>Gca	p.T664A	ZNF644_ENST00000361321.5_Intron|ZNF644_ENST00000337393.5_Missense_Mutation_p.T664A|ZNF644_ENST00000347275.5_Intron|ZNF644_ENST00000467231.1_Intron			Q9H582	ZN644_HUMAN	zinc finger protein 644	664					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|endometrium(2)|large_intestine(10)|lung(21)|ovary(2)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	47		all_lung(203;0.00206)|Lung NSC(277;0.0519)|Lung SC(238;0.101)		all cancers(265;0.00102)|Epithelial(280;0.00766)|KIRC - Kidney renal clear cell carcinoma(1967;0.147)|OV - Ovarian serous cystadenocarcinoma(397;0.173)		GATCCAAATGTTCGCTTCACA	0.373																																																	0			1											141.0	140.0	140.0					1																	91404921		2203	4300	6503	91177509	SO:0001583	missense	84146			AB033047	CCDS731.1, CCDS732.1	1p22.2	2008-02-05			ENSG00000122482	ENSG00000122482			29222	protein-coding gene	gene with protein product		614159				10574462	Standard	NM_032186		Approved	KIAA1221, BM-005, MGC60165, MGC70410	uc001dnw.3	Q9H582	OTTHUMG00000010078	ENST00000370440.1:c.1990A>G	1.37:g.91404921T>C	ENSP00000359469:p.Thr664Ala	Somatic		Capture	Illumina HiSeq	Phase_I	91177509	A2RU71|Q2TAM0|Q5TCC0|Q6BEP7|Q6P446|Q6PI06|Q7LG67|Q9ULJ9	Missense_Mutation	SNP	ENST00000370440.1	37	CCDS731.1	.	.	.	.	.	.	.	.	.	.	T	9.117	1.007980	0.19199	.	.	ENSG00000122482	ENST00000370440;ENST00000337393;ENST00000536941	T;T	0.00578	6.44;6.44	6.02	2.52	0.30459	.	0.493565	0.22492	N	0.059345	T	0.00144	0.0004	L	0.36672	1.1	0.28812	N	0.898193	B	0.22480	0.07	B	0.21546	0.035	T	0.41520	-0.9504	10	0.07813	T	0.8	-3.0935	1.2141	0.01910	0.1242:0.2128:0.2174:0.4457	.	664	Q9H582	ZN644_HUMAN	A	664;664;236	ENSP00000359469:T664A;ENSP00000337008:T664A	ENSP00000337008:T664A	T	-	1	0	ZNF644	91177509	1.000000	0.71417	0.998000	0.56505	0.994000	0.84299	0.816000	0.27267	0.186000	0.20125	-0.263000	0.10527	ACA		ZNF644-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000027846.2	NM_032186	
ARHGAP29	9411	hgsc.bcm.edu	37	1	94645386	94645386	+	Missense_Mutation	SNP	A	A	G			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr1:94645386A>G	ENST00000260526.6	-	20	2557	c.2375T>C	c.(2374-2376)aTg>aCg	p.M792T	ARHGAP29_ENST00000482481.1_5'UTR	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	792	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|Rho GTPase activator activity (GO:0005100)			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		TTCTATACACATATTTGGCCA	0.308																																																	0			1											154.0	150.0	152.0					1																	94645386		2203	4295	6498	94417974	SO:0001583	missense	9411				CCDS748.1	1p22.1	2011-06-29			ENSG00000137962	ENSG00000137962		"""Rho GTPase activating proteins"""	30207	protein-coding gene	gene with protein product		610496				9305890	Standard	NM_004815		Approved	PARG1	uc001dqj.4	Q52LW3	OTTHUMG00000010643	ENST00000260526.6:c.2375T>C	1.37:g.94645386A>G	ENSP00000260526:p.Met792Thr	Somatic		Capture	Illumina HiSeq	Phase_I	94417974	O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	Missense_Mutation	SNP	ENST00000260526.6	37	CCDS748.1	.	.	.	.	.	.	.	.	.	.	A	3.019	-0.202144	0.06219	.	.	ENSG00000137962	ENST00000260526	T	0.19669	2.13	5.8	-1.35	0.09114	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.873453	0.09480	N	0.796497	T	0.01320	0.0043	N	0.01168	-0.975	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.48281	-0.9049	10	0.07813	T	0.8	0.0157	6.1709	0.20416	0.5417:0.0:0.338:0.1203	.	792;792	F8VWZ8;Q52LW3	.;RHG29_HUMAN	T	792	ENSP00000260526:M792T	ENSP00000260526:M792T	M	-	2	0	ARHGAP29	94417974	0.000000	0.05858	0.000000	0.03702	0.985000	0.73830	0.803000	0.27083	-0.019000	0.14055	0.528000	0.53228	ATG		ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029376.2	NM_004815	
NRAS	4893	hgsc.bcm.edu	37	1	115256529	115256529	+	Missense_Mutation	SNP	T	T	C	rs11554290	byFrequency	TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr1:115256529T>C	ENST00000369535.4	-	3	435	c.182A>G	c.(181-183)cAa>cGa	p.Q61R		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|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)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|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)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61R(817)|p.Q61L(175)|p.Q61P(23)|p.Q61K(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		GTACTCTTCTTGTCCAGCTGT	0.458	Q61L(C3A_LIVER)|Q61L(HEPG2_LIVER)|Q61L(HL60_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(IPC298_SKIN)|Q61L(KMS21BM_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(MELJUSO_SKIN)|Q61L(MHHES1_BONE)|Q61L(MOLP8_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61L(OCIAML3_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61P(TF1_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(HT1197_URINARY_TRACT)|Q61R(KMS27_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61R(KU1919_URINARY_TRACT)|Q61R(NCIH2347_LUNG)|Q61R(ONS76_CENTRAL_NERVOUS_SYSTEM)|Q61R(SKMEL2_SKIN)|Q61R(SW1271_LUNG)|Q61R(TT2609C02_THYROID)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																														Dom	yes		1	1p13.2	4893	neuroblastoma RAS viral (v-ras) oncogene homolog		"""L, E"""	1016	Substitution - Missense(1016)	skin(466)|thyroid(279)|haematopoietic_and_lymphoid_tissue(124)|NS(50)|large_intestine(27)|lung(17)|urinary_tract(11)|adrenal_gland(7)|liver(7)|breast(7)|soft_tissue(4)|testis(3)|endometrium(3)|ovary(3)|central_nervous_system(2)|pancreas(2)|eye(1)|prostate(1)|meninges(1)|autonomic_ganglia(1)	1											180.0	156.0	164.0					1																	115256529		2203	4300	6503	115058052	SO:0001583	missense	4893	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.182A>G	1.37:g.115256529T>C	ENSP00000358548:p.Gln61Arg	Somatic		Capture	Illumina HiSeq	Phase_I	115058052	Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	CCDS877.1	.	.	.	.	.	.	.	.	.	.	T	20.5	4.004139	0.74932	.	.	ENSG00000213281	ENST00000369535	D	0.83673	-1.75	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.86489	0.5945	M	0.92604	3.325	0.80722	D	1	B	0.28512	0.214	B	0.39590	0.304	D	0.88255	0.2919	10	0.66056	D	0.02	.	15.0132	0.71565	0.0:0.0:0.0:1.0	rs11554290;rs11554290	61	P01111	RASN_HUMAN	R	61	ENSP00000358548:Q61R	ENSP00000358548:Q61R	Q	-	2	0	NRAS	115058052	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.761000	0.85260	2.120000	0.65058	0.533000	0.62120	CAA		NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524	
IGSF3	3321	hgsc.bcm.edu	37	1	117131694	117131694	+	Missense_Mutation	SNP	T	T	C			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr1:117131694T>C	ENST00000369486.3	-	8	2827	c.2062A>G	c.(2062-2064)Acc>Gcc	p.T688A	IGSF3_ENST00000318837.6_Missense_Mutation_p.T708A|IGSF3_ENST00000369483.1_Missense_Mutation_p.T708A	NM_001007237.1	NP_001007238.1	O75054	IGSF3_HUMAN	immunoglobulin superfamily, member 3	688	Ig-like C2-type 6.				lacrimal gland development (GO:0032808)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.T688A(1)		NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(31)|ovary(4)|prostate(1)|skin(4)|upper_aerodigestive_tract(2)	62	Lung SC(450;0.225)	all_cancers(81;1.24e-06)|all_epithelial(167;4.85e-07)|all_lung(203;1.66e-06)|Lung NSC(69;1.11e-05)		Lung(183;0.0142)|Colorectal(144;0.0929)|LUSC - Lung squamous cell carcinoma(189;0.108)|COAD - Colon adenocarcinoma(174;0.139)|all cancers(265;0.159)|Epithelial(280;0.166)		AGGGTGAGGGTCCTCTTCGAT	0.532																																																	1	Substitution - Missense(1)	ovary(1)	1											85.0	82.0	83.0					1																	117131694		2203	4300	6503	116933217	SO:0001583	missense	3321			AF031174	CCDS30813.1, CCDS30814.1	1p13	2013-01-29			ENSG00000143061	ENSG00000143061		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5950	protein-coding gene	gene with protein product		603491				9790749	Standard	NM_001007237		Approved	V8, EWI-3, MGC117164	uc031pnr.1	O75054	OTTHUMG00000022751	ENST00000369486.3:c.2062A>G	1.37:g.117131694T>C	ENSP00000358498:p.Thr688Ala	Somatic		Capture	Illumina HiSeq	Phase_I	116933217	A6NJZ6|A6NMC7	Missense_Mutation	SNP	ENST00000369486.3	37	CCDS30813.1	.	.	.	.	.	.	.	.	.	.	T	12.14	1.848969	0.32699	.	.	ENSG00000143061	ENST00000369486;ENST00000369483;ENST00000318837	T;T;T	0.64991	-0.13;-0.13;-0.13	4.16	4.16	0.48862	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.472387	0.21950	N	0.066751	T	0.29588	0.0738	N	0.21282	0.65	0.33958	D	0.645311	B;B;B	0.21688	0.012;0.059;0.016	B;B;B	0.22152	0.023;0.038;0.038	T	0.13255	-1.0516	10	0.33141	T	0.24	-34.646	11.1892	0.48675	0.0:0.0:0.0:1.0	.	708;688;708	O75054-2;O75054;A6NJZ6	.;IGSF3_HUMAN;.	A	688;708;708	ENSP00000358498:T688A;ENSP00000358495:T708A;ENSP00000321184:T708A	ENSP00000321184:T708A	T	-	1	0	IGSF3	116933217	1.000000	0.71417	1.000000	0.80357	0.936000	0.57629	3.606000	0.54095	1.749000	0.51849	0.379000	0.24179	ACC		IGSF3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000059040.1	NM_001542	
NBPF14	25832	hgsc.bcm.edu	37	1	148004588	148004588	+	Missense_Mutation	SNP	A	A	G			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr1:148004588A>G	ENST00000369219.1	-	22	2742	c.2726T>C	c.(2725-2727)cTc>cCc	p.L909P				Q5TI25	NBPFE_HUMAN	neuroblastoma breakpoint family, member 14	909	NBPF 10. {ECO:0000255|PROSITE- ProRule:PRU00647}.					cytoplasm (GO:0005737)				NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(1)|lung(23)|ovary(2)|pancreas(2)|prostate(2)|skin(1)|stomach(2)|urinary_tract(1)	42	all_hematologic(923;0.032)					CACCAGGTGGAGACTTGTCAC	0.473																																																	0			1											59.0	87.0	78.0					1																	148004588		2036	4212	6248	146471212	SO:0001583	missense	25832			AK092351		1q21.1	2013-01-17			ENSG00000122497			"""neuroblastoma breakpoint family"""	25232	protein-coding gene	gene with protein product		614003				8619474, 9110174, 16079250	Standard	NM_015383		Approved	DJ328E19.C1.1	uc021owp.2	Q5TI25	OTTHUMG00000013900	ENST00000369219.1:c.2726T>C	1.37:g.148004588A>G	ENSP00000358221:p.Leu909Pro	Somatic		Capture	Illumina HiSeq	Phase_I	146471212	Q5TI23|Q8IX76|Q9UJI9	Missense_Mutation	SNP	ENST00000369219.1	37		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	a|a	9.197|9.197	1.027578|1.027578	0.19512|0.19512	.|.	.|.	ENSG00000122497|ENSG00000122497	ENST00000369219;ENST00000369368|ENST00000310701	T|.	0.04758|.	3.56|.	0.512|0.512	0.512|0.512	0.16994|0.16994	DUF1220 (1);|.	.|.	.|.	.|.	.|.	T|T	0.20170|0.20170	0.0485|0.0485	L|L	0.48642|0.48642	1.525|1.525	0.09310|0.09310	N|N	1|1	P;D;D|.	0.62365|.	0.832;0.991;0.99|.	B;P;P|.	0.54706|.	0.207;0.593;0.759|.	T|T	0.23154|0.23154	-1.0196|-1.0196	7|4	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	257;890;909|.	F8WEX8;B4DH59;Q5TI25|.	.;.;NBPFE_HUMAN|.	P|P	909;257|915	ENSP00000358221:L909P|.	.|.	L|S	-|-	2|1	0|0	NBPF14|NBPF14	146471212|146471212	0.934000|0.934000	0.31675|0.31675	0.003000|0.003000	0.11579|0.11579	0.009000|0.009000	0.06853|0.06853	0.750000|0.750000	0.26334|0.26334	0.492000|0.492000	0.27815|0.27815	0.355000|0.355000	0.21935|0.21935	CTC|TCC		NBPF14-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_015383	
FLG	2312	hgsc.bcm.edu	37	1	152280074	152280074	+	Missense_Mutation	SNP	G	G	A	rs140376327		TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr1:152280074G>A	ENST00000368799.1	-	3	7323	c.7288C>T	c.(7288-7290)Cgg>Tgg	p.R2430W	FLG-AS1_ENST00000420707.1_RNA|FLG-AS1_ENST00000593011.1_RNA	NM_002016.1	NP_002007.1	P20930	FILA_HUMAN	filaggrin	2430	Ser-rich.				establishment of skin barrier (GO:0061436)|keratinocyte differentiation (GO:0030216)|multicellular organismal development (GO:0007275)	cytoplasmic membrane-bounded vesicle (GO:0016023)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)	p.R2430W(1)		autonomic_ganglia(1)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(38)|haematopoietic_and_lymphoid_tissue(1)|kidney(16)|large_intestine(57)|lung(211)|ovary(13)|pancreas(1)|prostate(15)|skin(24)|stomach(5)|upper_aerodigestive_tract(10)|urinary_tract(12)	424	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			GTCCCGGTCCGTCCATGGGCG	0.592									Ichthyosis				G|||	1	0.000199681	0.0	0.0	5008	,	,		20890	0.0		0.001	False		,,,				2504	0.0																1	Substitution - Missense(1)	large_intestine(1)	1						G	TRP/ARG	1,4405	2.1+/-5.4	0,1,2202	255.0	238.0	244.0		7288	1.6	0.0	1	dbSNP_134	244	4,8596	4.3+/-15.6	0,4,4296	no	missense	FLG	NM_002016.1	101	0,5,6498	AA,AG,GG		0.0465,0.0227,0.0384	benign	2430/4062	152280074	5,13001	2203	4300	6503	150546698	SO:0001583	missense	2312	Familial Cancer Database	X-linked Ichthyosis, Steroid Sulfatase Deficiency, Ichthyosis Vulgaris	XM_048104	CCDS30860.1	1q21.3	2013-01-10			ENSG00000143631	ENSG00000143631		"""EF-hand domain containing"""	3748	protein-coding gene	gene with protein product		135940				2740331, 2248957, 16444271	Standard	NM_002016		Approved		uc001ezu.1	P20930	OTTHUMG00000012202	ENST00000368799.1:c.7288C>T	1.37:g.152280074G>A	ENSP00000357789:p.Arg2430Trp	Somatic		Capture	Illumina HiSeq	Phase_I	150546698	Q01720|Q5T583|Q9UC71	Missense_Mutation	SNP	ENST00000368799.1	37	CCDS30860.1	.	.	.	.	.	.	.	.	.	.	G	7.286	0.610080	0.14066	2.27E-4	4.65E-4	ENSG00000143631	ENST00000368799	T	0.01745	4.66	4.55	1.57	0.23409	.	.	.	.	.	T	0.00666	0.0022	L	0.41027	1.25	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.45234	-0.9275	9	0.51188	T	0.08	.	7.4395	0.27174	0.0906:0.3128:0.5966:0.0	.	2430	P20930	FILA_HUMAN	W	2430	ENSP00000357789:R2430W	ENSP00000357789:R2430W	R	-	1	2	FLG	150546698	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-0.114000	0.10757	0.105000	0.17753	-0.347000	0.07816	CGG		FLG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033742.1	NM_002016	
NPR1	4881	hgsc.bcm.edu	37	1	153657487	153657487	+	Missense_Mutation	SNP	G	G	T			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr1:153657487G>T	ENST00000368680.3	+	8	2004	c.1532G>T	c.(1531-1533)cGc>cTc	p.R511L		NM_000906.3	NP_000897.3	P16066	ANPRA_HUMAN	natriuretic peptide receptor 1	511					body fluid secretion (GO:0007589)|cell surface receptor signaling pathway (GO:0007166)|cGMP biosynthetic process (GO:0006182)|dopamine metabolic process (GO:0042417)|G-protein coupled receptor signaling pathway (GO:0007186)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell growth (GO:0030308)|negative regulation of smooth muscle cell proliferation (GO:0048662)|positive regulation of cGMP biosynthetic process (GO:0030828)|positive regulation of renal sodium excretion (GO:0035815)|positive regulation of urine volume (GO:0035810)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of blood pressure (GO:0008217)|regulation of blood vessel size (GO:0050880)|regulation of vascular permeability (GO:0043114)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|G-protein coupled peptide receptor activity (GO:0008528)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|hormone binding (GO:0042562)|natriuretic peptide receptor activity (GO:0016941)|peptide hormone binding (GO:0017046)|protein kinase activity (GO:0004672)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(8)|liver(1)|lung(17)|ovary(4)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	42	all_lung(78;3.75e-32)|Lung NSC(65;1.37e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)		Amyl Nitrite(DB01612)|Erythrityl Tetranitrate(DB01613)|Isosorbide Dinitrate(DB00883)|Nesiritide(DB04899)|Nitroglycerin(DB00727)|Nitroprusside(DB00325)	TGGCGGGTGCGCTGGGAGGAC	0.642																																					Pancreas(141;1349 1870 15144 15830 40702)												0			1											60.0	58.0	58.0					1																	153657487		2203	4300	6503	151924111	SO:0001583	missense	4881			BC063304	CCDS1051.1	1q21-q22	2014-03-03	2014-03-03		ENSG00000169418	ENSG00000169418			7943	protein-coding gene	gene with protein product	"""guanylate cyclase A"""	108960	"""atrionatriuretic peptide receptor A"", ""natriuretic peptide receptor A"""	ANPRA, NPRA		1979052	Standard	NM_000906		Approved	GUCY2A, ANPa	uc001fcs.4	P16066	OTTHUMG00000037085	ENST00000368680.3:c.1532G>T	1.37:g.153657487G>T	ENSP00000357669:p.Arg511Leu	Somatic		Capture	Illumina HiSeq	Phase_I	151924111	B0ZBF0|Q5SR08|Q6P4Q3	Missense_Mutation	SNP	ENST00000368680.3	37	CCDS1051.1	.	.	.	.	.	.	.	.	.	.	G	17.44	3.389815	0.61956	.	.	ENSG00000169418	ENST00000368680;ENST00000428723	T	0.37752	1.18	4.86	3.95	0.45737	.	0.512973	0.19025	N	0.124707	T	0.20047	0.0482	L	0.60067	1.865	0.80722	D	1	P;P	0.43938	0.771;0.822	B;B	0.41510	0.168;0.359	T	0.02654	-1.1128	10	0.24483	T	0.36	.	10.6879	0.45854	0.0925:0.0:0.9075:0.0	.	16;511	B7Z4Y7;P16066	.;ANPRA_HUMAN	L	511;16	ENSP00000357669:R511L	ENSP00000357669:R511L	R	+	2	0	NPR1	151924111	1.000000	0.71417	1.000000	0.80357	0.938000	0.57974	2.252000	0.43196	1.276000	0.44395	0.655000	0.94253	CGC		NPR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090034.1	NM_000906	
HDGF	3068	hgsc.bcm.edu	37	1	156714907	156714907	+	Missense_Mutation	SNP	A	A	G			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr1:156714907A>G	ENST00000357325.5	-	3	510	c.196T>C	c.(196-198)Tac>Cac	p.Y66H	HDGF_ENST00000537739.1_Missense_Mutation_p.Y66H|HDGF_ENST00000416666.2_Missense_Mutation_p.Y34H|HDGF_ENST00000368209.5_Missense_Mutation_p.Y59H|HDGF_ENST00000465180.1_5'UTR|HDGF_ENST00000368206.5_Missense_Mutation_p.Y82H	NM_004494.2	NP_004485.1	P51858	HDGF_HUMAN	hepatoma-derived growth factor	66	PWWP. {ECO:0000255|PROSITE- ProRule:PRU00162}.				activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cell proliferation (GO:0008283)|cellular protein metabolic process (GO:0044267)|endoplasmic reticulum unfolded protein response (GO:0030968)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein localization to nucleus (GO:0034504)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA polymerase II transcription corepressor activity (GO:0001106)|transcription corepressor binding (GO:0001222)	p.Y66D(1)		endometrium(1)|kidney(1)|large_intestine(1)|lung(6)	9	all_hematologic(923;0.088)|Hepatocellular(266;0.158)	Breast(1374;0.198)		Colorectal(1306;0.018)		GATTCCTCGTAAGGGAAGAGG	0.577																																																	1	Substitution - Missense(1)	lung(1)	1											90.0	82.0	85.0					1																	156714907		2203	4300	6503	154981531	SO:0001583	missense	3068			D16431	CCDS1156.1, CCDS44247.1, CCDS44248.1	1q23.1	2013-10-14	2010-03-19		ENSG00000143321	ENSG00000143321			4856	protein-coding gene	gene with protein product	"""high-mobility group protein 1-like"""	600339	"""hepatoma-derived growth factor (high-mobility group protein 1-like)"""			8833162	Standard	NM_004494		Approved	HMG1L2	uc001fpy.4	P51858	OTTHUMG00000041295	ENST00000357325.5:c.196T>C	1.37:g.156714907A>G	ENSP00000349878:p.Tyr66His	Somatic		Capture	Illumina HiSeq	Phase_I	154981531	B3KU21|D3DVC9|Q5SZ07|Q5SZ08|Q5SZ09	Missense_Mutation	SNP	ENST00000357325.5	37	CCDS1156.1	.	.	.	.	.	.	.	.	.	.	A	20.9	4.071021	0.76301	.	.	ENSG00000143321	ENST00000357325;ENST00000368209;ENST00000537739;ENST00000416666;ENST00000368206	T;T;T;T;T	0.73789	-0.78;-0.78;-0.78;-0.78;-0.78	4.51	4.51	0.55191	PWWP (3);	0.000000	0.64402	U	0.000002	D	0.87549	0.6205	H	0.95745	3.715	0.43902	D	0.996535	D;D;D;D;D	0.89917	1.0;0.999;1.0;1.0;0.984	D;D;D;D;D	0.91635	0.999;0.997;0.999;0.999;0.976	D	0.90613	0.4553	10	0.87932	D	0	-9.4067	11.8625	0.52474	1.0:0.0:0.0:0.0	.	34;66;82;59;66	B7Z958;B2RDE8;Q5SZ07;Q5SZ08;P51858	.;.;.;.;HDGF_HUMAN	H	66;59;66;34;82	ENSP00000349878:Y66H;ENSP00000357192:Y59H;ENSP00000443120:Y66H;ENSP00000416752:Y34H;ENSP00000357189:Y82H	ENSP00000349878:Y66H	Y	-	1	0	HDGF	154981531	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.133000	0.94460	1.926000	0.55796	0.254000	0.18369	TAC		HDGF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098946.1	NM_004494	
NR1I3	9970	hgsc.bcm.edu	37	1	161202999	161202999	+	Missense_Mutation	SNP	C	C	T	rs139473535	byFrequency	TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr1:161202999C>T	ENST00000367982.4	-	4	523	c.368G>A	c.(367-369)cGc>cAc	p.R123H	NR1I3_ENST00000367983.4_Missense_Mutation_p.R123H|NR1I3_ENST00000504010.1_Missense_Mutation_p.R94H|NR1I3_ENST00000367984.4_Missense_Mutation_p.R123H|NR1I3_ENST00000511944.1_Intron|NR1I3_ENST00000512372.1_Missense_Mutation_p.R94H|NR1I3_ENST00000367979.2_Missense_Mutation_p.R123H|NR1I3_ENST00000479324.1_5'Flank|NR1I3_ENST00000505005.1_Missense_Mutation_p.R123H|NR1I3_ENST00000412844.2_Missense_Mutation_p.R94H|NR1I3_ENST00000515452.1_Missense_Mutation_p.R123H|NR1I3_ENST00000506209.1_Missense_Mutation_p.R94H|NR1I3_ENST00000367985.3_Missense_Mutation_p.R123H|NR1I3_ENST00000442691.2_Missense_Mutation_p.R123H|NR1I3_ENST00000502985.1_Intron|NR1I3_ENST00000511676.1_Missense_Mutation_p.R94H|NR1I3_ENST00000367980.2_Missense_Mutation_p.R123H|NR1I3_ENST00000508387.1_Intron|NR1I3_ENST00000515621.1_Missense_Mutation_p.R48H|NR1I3_ENST00000437437.2_Missense_Mutation_p.R94H|NR1I3_ENST00000508740.1_Missense_Mutation_p.R94H|NR1I3_ENST00000428574.2_Missense_Mutation_p.R123H|NR1I3_ENST00000511748.1_Intron|NR1I3_ENST00000367981.3_Missense_Mutation_p.R94H			Q14994	NR1I3_HUMAN	nuclear receptor subfamily 1, group I, member 3	123					androgen receptor signaling pathway (GO:0030521)|gene expression (GO:0010467)|intracellular receptor signaling pathway (GO:0030522)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|signal transduction (GO:0007165)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	androgen receptor activity (GO:0004882)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|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)|thyroid hormone receptor activity (GO:0004887)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	15	all_cancers(52;1.86e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)			GCCCATGTGGCGGGTGTGGGC	0.562													C|||	5	0.000998403	0.0023	0.0	5008	,	,		17525	0.0		0.0	False		,,,				2504	0.002																0			1											128.0	133.0	131.0					1																	161202999		2203	4300	6503	159469623	SO:0001583	missense	9970			Z30425	CCDS1228.1, CCDS41427.1, CCDS41428.1, CCDS41429.1, CCDS41430.1, CCDS44260.1, CCDS44261.1, CCDS44262.1, CCDS53405.1, CCDS53406.1, CCDS53407.1, CCDS53408.1, CCDS53409.1, CCDS53410.1, CCDS53411.1	1q23.3	2013-01-16			ENSG00000143257	ENSG00000143257		"""Nuclear hormone receptors"""	7969	protein-coding gene	gene with protein product	"""constitutive androstane receptor"""	603881				8114692	Standard	NM_001077480		Approved	MB67, CAR1, CAR	uc001fzp.3	Q14994	OTTHUMG00000034347	ENST00000367982.4:c.368G>A	1.37:g.161202999C>T	ENSP00000356961:p.Arg123His	Somatic		Capture	Illumina HiSeq	Phase_I	159469623	E9PB75|E9PC13|E9PDU3|E9PGH6|E9PH10|E9PHC8|E9PHN4|F1D8Q0|F1D8Q1|Q0VAC9|Q4U0F0|Q5VTW5|Q5VTW6|Q6GZ68|Q6GZ76|Q6GZ77|Q6GZ78|Q6GZ79|Q6GZ82|Q6GZ83|Q6GZ84|Q6GZ85|Q6GZ87|Q6GZ89	Missense_Mutation	SNP	ENST00000367982.4	37	CCDS41430.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	C	17.06	3.291684	0.59976	.	.	ENSG00000143257	ENST00000512372;ENST00000367983;ENST00000367980;ENST00000437437;ENST00000442691;ENST00000412844;ENST00000428574;ENST00000505005;ENST00000508740;ENST00000367982;ENST00000504010;ENST00000511676;ENST00000367981;ENST00000515621;ENST00000367984;ENST00000367985;ENST00000367979;ENST00000506209;ENST00000515452	D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.95272	-3.66;-3.66;-3.66;-3.66;-3.66;-3.66;-3.66;-3.66;-3.66;-3.66;-3.66;-3.66;-3.66;-3.66;-3.66;-3.66;-3.66;-3.66;-3.66	6.17	5.26	0.73747	Nuclear hormone receptor, ligand-binding (2);	0.265694	0.36972	N	0.002309	D	0.95965	0.8686	M	0.78916	2.43	0.37797	D	0.927558	P;P;D;D;D;D;B;P;D;B;D;D;D;P;B;D;D;D	0.89917	0.905;0.942;0.995;0.978;1.0;0.978;0.017;0.942;0.994;0.017;0.976;1.0;1.0;0.942;0.189;0.999;1.0;0.994	B;B;P;P;D;P;B;B;P;B;P;D;D;B;B;P;P;P	0.65874	0.285;0.285;0.726;0.608;0.939;0.608;0.003;0.391;0.676;0.005;0.497;0.939;0.935;0.391;0.013;0.797;0.873;0.676	D	0.96697	0.9515	9	0.66056	D	0.02	.	13.0116	0.58733	0.1611:0.8389:0.0:0.0	.	123;94;94;123;123;123;123;123;123;123;48;94;94;94;94;94;94;123	B7Z8R7;E9PCF2;E9PHN4;Q6GZ85;E9PHC8;Q0VAC9;F1D8Q1;Q14994;E9PC13;Q4U0F0;D6REZ7;Q6GZ87;E9PDU3;Q6GZ68;E9PH10;Q6GZ84;E9PGH6;E9PB75	.;.;.;.;.;.;.;NR1I3_HUMAN;.;.;.;.;.;.;.;.;.;.	H	94;123;123;94;123;94;123;123;94;123;94;94;94;48;123;123;123;94;123	ENSP00000425417:R94H;ENSP00000356962:R123H;ENSP00000356959:R123H;ENSP00000407446:R94H;ENSP00000406493:R123H;ENSP00000399361:R94H;ENSP00000412672:R123H;ENSP00000424934:R123H;ENSP00000423666:R94H;ENSP00000356961:R123H;ENSP00000424345:R94H;ENSP00000427175:R94H;ENSP00000356960:R94H;ENSP00000421588:R48H;ENSP00000356963:R123H;ENSP00000356965:R123H;ENSP00000356958:R123H;ENSP00000423089:R94H;ENSP00000427034:R123H	ENSP00000356958:R123H	R	-	2	0	NR1I3	159469623	0.195000	0.23338	0.213000	0.23690	0.468000	0.32798	0.830000	0.27462	1.610000	0.50200	0.655000	0.94253	CGC		NR1I3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083048.2		
FCRLA	84824	hgsc.bcm.edu	37	1	161680613	161680613	+	Missense_Mutation	SNP	C	C	T	rs149584309		TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr1:161680613C>T	ENST00000236938.6	+	2	436	c.194C>T	c.(193-195)aCg>aTg	p.T65M	FCRLA_ENST00000546024.1_Missense_Mutation_p.T65M|FCRLA_ENST00000294796.4_Intron|FCRLA_ENST00000367953.3_Missense_Mutation_p.T54M|FCRLA_ENST00000350710.3_Intron|FCRLA_ENST00000367959.2_Missense_Mutation_p.T71M|FCRLA_ENST00000309691.6_Missense_Mutation_p.T48M|FCRLA_ENST00000470841.1_3'UTR|FCRLA_ENST00000367949.2_Missense_Mutation_p.T65M|FCRLA_ENST00000367950.1_Missense_Mutation_p.T25M|FCRLA_ENST00000367957.2_Intron|FCRLA_ENST00000540926.1_Missense_Mutation_p.T54M|FCRLA_ENST00000349527.4_Missense_Mutation_p.T48M|FCRLA_ENST00000540521.1_Intron	NM_032738.3	NP_116127.3	Q7L513	FCRLA_HUMAN	Fc receptor-like A	48					cell differentiation (GO:0030154)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)				breast(1)|kidney(12)|large_intestine(4)|lung(13)|prostate(1)|skin(2)|stomach(1)	34	all_cancers(52;2.55e-15)|all_hematologic(112;0.0359)		BRCA - Breast invasive adenocarcinoma(70;0.00301)			AGCTGCCACACGGAGGATGAC	0.552																																																	0			1						C	MET/THR,MET/THR,,,,MET/THR,MET/THR	0,4406		0,0,2203	103.0	78.0	86.0		212,194,,,,194,194	-6.6	0.0	1	dbSNP_134	86	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense,intron,intron,intron,missense,missense	FCRLA	NM_001184866.1,NM_001184867.1,NM_001184870.1,NM_001184871.1,NM_001184872.1,NM_001184873.1,NM_032738.3	81,81,,,,81,81	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign,,,,benign,benign	71/383,65/288,,,,65/193,65/377	161680613	1,13005	2203	4300	6503	159947237	SO:0001583	missense	84824			AF531423	CCDS30926.1, CCDS53415.1, CCDS53416.1, CCDS53417.1, CCDS53418.1, CCDS53419.1, CCDS53420.1	1q23.3	2014-01-28	2006-09-26	2006-09-26	ENSG00000132185	ENSG00000132185		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	18504	protein-coding gene	gene with protein product		606891	"""Fc receptor-like and mucin-like 1"""	FCRLM1		11754007	Standard	NM_001184866		Approved	MGC4595, FCRLc2, FCRLb, FCRLc1, FCRLd, FCRLe, FCRL, FCRLa, FREB, FCRLX	uc001gbe.3	Q7L513	OTTHUMG00000034537	ENST00000236938.6:c.194C>T	1.37:g.161680613C>T	ENSP00000236938:p.Thr65Met	Somatic		Capture	Illumina HiSeq	Phase_I	159947237	A0N0M1|A6NC03|A6NL20|F5H720|F8W743|G3V1J2|Q5VXA1|Q5VXA2|Q5VXA3|Q5VXA4|Q5VXB0|Q5VXB1|Q8NEW4|Q8WXH3|Q96PC6|Q96PJ0|Q96PJ1|Q96PJ2|Q96PJ4|Q9BR57	Missense_Mutation	SNP	ENST00000236938.6	37	CCDS30926.1	.	.	.	.	.	.	.	.	.	.	C	6.521	0.464408	0.12402	0.0	1.16E-4	ENSG00000132185	ENST00000236938;ENST00000367959;ENST00000546024;ENST00000367949;ENST00000540926;ENST00000349527;ENST00000309691;ENST00000367953;ENST00000367950	T;T;T;T;T;T;T;T;T	0.47177	5.69;5.69;4.69;0.85;5.71;3.84;4.72;5.71;0.87	4.22	-6.55	0.01854	.	2.079850	0.02016	N	0.047379	T	0.06508	0.0167	N	0.04508	-0.205	0.09310	N	1	B;B;B;B	0.15473	0.003;0.005;0.002;0.013	B;B;B;B	0.11329	0.003;0.002;0.001;0.006	T	0.06267	-1.0836	10	0.40728	T	0.16	.	0.5896	0.00725	0.224:0.3089:0.2213:0.2458	.	65;65;71;65	A6NL20;G3V1J2;A6NC03;Q7L513-9	.;.;.;.	M	65;71;65;65;54;48;48;54;25	ENSP00000236938:T65M;ENSP00000356936:T71M;ENSP00000439838:T65M;ENSP00000356926:T65M;ENSP00000446380:T54M;ENSP00000294798:T48M;ENSP00000309596:T48M;ENSP00000356930:T54M;ENSP00000356927:T25M	ENSP00000236938:T65M	T	+	2	0	FCRLA	159947237	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.489000	0.00976	-1.106000	0.03008	-1.990000	0.00449	ACG		FCRLA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000083574.1	NM_032738	
SEC16B	89866	hgsc.bcm.edu	37	1	177906532	177906532	+	Missense_Mutation	SNP	G	G	T			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr1:177906532G>T	ENST00000308284.6	-	19	2409	c.2320C>A	c.(2320-2322)Cag>Aag	p.Q774K	SEC16B_ENST00000495165.1_5'Flank|RP4-798P15.3_ENST00000354921.3_RNA	NM_033127.2	NP_149118.2	Q96JE7	SC16B_HUMAN	SEC16 homolog B (S. cerevisiae)	774					COPII vesicle coating (GO:0048208)|endoplasmic reticulum organization (GO:0007029)|peroxisome fission (GO:0016559)|peroxisome organization (GO:0007031)|positive regulation of gene expression (GO:0010628)|positive regulation of protein exit from endoplasmic reticulum (GO:0070863)|protein localization to endoplasmic reticulum (GO:0070972)|protein transport (GO:0015031)	endoplasmic reticulum (GO:0005783)|Golgi membrane (GO:0000139)|intracellular membrane-bounded organelle (GO:0043231)				central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(7)|lung(14)|ovary(3)|skin(1)|stomach(1)	35						GGAAAGGGCTGCTGTGGGCTG	0.622																																																	0			1											20.0	23.0	22.0					1																	177906532		1887	4115	6002	176173155	SO:0001583	missense	89866			AK090411	CCDS44281.1	1q25.2	2012-10-08	2007-06-20	2007-06-20	ENSG00000120341	ENSG00000120341			30301	protein-coding gene	gene with protein product	"""regucalcin gene promotor region related protein"""	612855	"""leucine zipper transcription regulator 2"""	LZTR2		11572484, 11605020	Standard	NM_033127		Approved	RGPR, PGPR-p117	uc001gli.1	Q96JE7	OTTHUMG00000167206	ENST00000308284.6:c.2320C>A	1.37:g.177906532G>T	ENSP00000308339:p.Gln774Lys	Somatic		Capture	Illumina HiSeq	Phase_I	176173155	A3EYF1|Q5HYF6|Q8N7D6|Q96GX6	Missense_Mutation	SNP	ENST00000308284.6	37	CCDS44281.1	.	.	.	.	.	.	.	.	.	.	G	12.40	1.927501	0.34002	.	.	ENSG00000120341	ENST00000308284;ENST00000414025;ENST00000239472	T	0.15256	2.44	5.0	5.0	0.66597	.	0.758009	0.12379	N	0.474114	T	0.17874	0.0429	M	0.61703	1.905	0.80722	D	1	B;B;B;B	0.22276	0.067;0.013;0.013;0.013	B;B;B;B	0.12837	0.008;0.003;0.003;0.003	T	0.08330	-1.0727	10	0.06494	T	0.89	-1.6676	13.652	0.62316	0.0:0.0:1.0:0.0	.	329;775;774;471	B1AM07;B1AM08;Q96JE7;Q96PW0	.;.;SC16B_HUMAN;.	K	774;458;489	ENSP00000308339:Q774K	ENSP00000239472:Q489K	Q	-	1	0	AL359075.1	176173155	0.040000	0.19996	0.097000	0.21041	0.037000	0.13140	1.646000	0.37249	2.589000	0.87451	0.650000	0.86243	CAG		SEC16B-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084773.16	NM_033127	
SLC30A1	7779	hgsc.bcm.edu	37	1	211749326	211749326	+	Missense_Mutation	SNP	G	G	A			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr1:211749326G>A	ENST00000367001.4	-	2	1057	c.928C>T	c.(928-930)Cct>Tct	p.P310S		NM_021194.2	NP_067017.2	Q9Y6M5	ZNT1_HUMAN	solute carrier family 30 (zinc transporter), member 1	310					cadmium ion transmembrane transport (GO:0070574)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|cellular zinc ion homeostasis (GO:0006882)|detoxification of cadmium ion (GO:0071585)|in utero embryonic development (GO:0001701)|negative regulation of calcium ion import (GO:0090281)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of zinc ion transmembrane import (GO:0071584)|transmembrane transport (GO:0055085)|zinc ion transport (GO:0006829)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)	calcium channel inhibitor activity (GO:0019855)|zinc ion transmembrane transporter activity (GO:0005385)			central_nervous_system(1)|endometrium(1)|large_intestine(3)|liver(1)|lung(1)|ovary(3)|prostate(1)	11				OV - Ovarian serous cystadenocarcinoma(81;0.00535)|GBM - Glioblastoma multiforme(131;0.051)|all cancers(67;0.0604)|Epithelial(68;0.0978)		ACCCAGCAAGGACCAGCCTCA	0.373																																																	0			1											142.0	152.0	148.0					1																	211749326		2203	4300	6503	209815949	SO:0001583	missense	7779			AF323590	CCDS1499.1	1q32.3	2013-05-22			ENSG00000170385	ENSG00000170385		"""Solute carriers"""	11012	protein-coding gene	gene with protein product		609521		ZNT1			Standard	NM_021194		Approved	ZRC1	uc001hio.1	Q9Y6M5	OTTHUMG00000036995	ENST00000367001.4:c.928C>T	1.37:g.211749326G>A	ENSP00000355968:p.Pro310Ser	Somatic		Capture	Illumina HiSeq	Phase_I	209815949	Q0VAK9|Q9BZF6	Missense_Mutation	SNP	ENST00000367001.4	37	CCDS1499.1	.	.	.	.	.	.	.	.	.	.	G	18.96	3.734496	0.69189	.	.	ENSG00000170385	ENST00000367001	T	0.64803	-0.12	5.44	5.44	0.79542	.	0.000000	0.85682	D	0.000000	T	0.73984	0.3657	M	0.72118	2.19	0.80722	D	1	D	0.57899	0.981	P	0.56514	0.8	T	0.69903	-0.5019	10	0.22109	T	0.4	-9.6619	19.2601	0.93964	0.0:0.0:1.0:0.0	.	310	Q9Y6M5	ZNT1_HUMAN	S	310	ENSP00000355968:P310S	ENSP00000355968:P310S	P	-	1	0	SLC30A1	209815949	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.711000	0.84669	2.549000	0.85964	0.563000	0.77884	CCT		SLC30A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000104738.2		
RPS6KC1	26750	hgsc.bcm.edu	37	1	213414659	213414659	+	Nonsense_Mutation	SNP	G	G	T			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr1:213414659G>T	ENST00000366960.3	+	11	1990	c.1840G>T	c.(1840-1842)Gga>Tga	p.G614*	RPS6KC1_ENST00000366959.3_Nonsense_Mutation_p.G602*|RPS6KC1_ENST00000543354.1_Nonsense_Mutation_p.G317*|RPS6KC1_ENST00000543470.1_Nonsense_Mutation_p.G402*|RPS6KC1_ENST00000490299.1_3'UTR	NM_012424.3	NP_036556.2	Q96S38	KS6C1_HUMAN	ribosomal protein S6 kinase, 52kDa, polypeptide 1	614					signal transduction (GO:0007165)	cytoplasm (GO:0005737)|early endosome (GO:0005769)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|phosphatidylinositol binding (GO:0035091)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(6)|kidney(4)|large_intestine(8)|liver(2)|lung(15)|ovary(3)|prostate(1)|urinary_tract(3)	43				OV - Ovarian serous cystadenocarcinoma(81;0.00705)|all cancers(67;0.016)|GBM - Glioblastoma multiforme(131;0.0663)|Epithelial(68;0.145)		TGAACTCCTGGGACTTGACTT	0.383																																																	0			1											49.0	53.0	52.0					1																	213414659		2203	4300	6503	211481282	SO:0001587	stop_gained	26750			AF037447	CCDS1513.1, CCDS44317.1, CCDS73028.1, CCDS73029.1, CCDS73030.1	1q41	2011-04-05	2002-08-29		ENSG00000136643	ENSG00000136643			10439	protein-coding gene	gene with protein product			"""ribosomal protein S6 kinase, 52kD, polypeptide 1"""			10552933	Standard	XM_005273095		Approved	humS6PKh1	uc010ptr.2	Q96S38	OTTHUMG00000036926	ENST00000366960.3:c.1840G>T	1.37:g.213414659G>T	ENSP00000355927:p.Gly614*	Somatic		Capture	Illumina HiSeq	Phase_I	211481282	B1APS8|B3KVM4|D3DTA4|Q8TDD3|Q9NSF4|Q9UL66	Nonsense_Mutation	SNP	ENST00000366960.3	37	CCDS1513.1	.	.	.	.	.	.	.	.	.	.	G	39	7.443776	0.98289	.	.	ENSG00000136643	ENST00000543470;ENST00000366960;ENST00000366959;ENST00000543354	.	.	.	5.19	5.19	0.71726	.	0.241459	0.42548	D	0.000696	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	-35.4739	16.9253	0.86174	0.0:0.0:1.0:0.0	.	.	.	.	X	402;614;602;317	.	ENSP00000355926:G602X	G	+	1	0	RPS6KC1	211481282	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.249000	0.58766	2.416000	0.81992	0.557000	0.71058	GGA		RPS6KC1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000089690.3	NM_012424	
PROX1	5629	hgsc.bcm.edu	37	1	214178610	214178610	+	Missense_Mutation	SNP	G	G	A			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr1:214178610G>A	ENST00000366958.4	+	3	2436	c.1828G>A	c.(1828-1830)Gta>Ata	p.V610I	PROX1_ENST00000261454.4_Missense_Mutation_p.V610I|PROX1_ENST00000498508.2_Missense_Mutation_p.V610I|PROX1_ENST00000435016.1_Missense_Mutation_p.V610I	NM_001270616.1	NP_001257545.1	Q92786	PROX1_HUMAN	prospero homeobox 1	610					aorta smooth muscle tissue morphogenesis (GO:0060414)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|brain development (GO:0007420)|cell fate determination (GO:0001709)|cerebellar granule cell differentiation (GO:0021707)|dentate gyrus development (GO:0021542)|dorsal spinal cord development (GO:0021516)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|endocardium formation (GO:0060214)|hepatocyte cell migration (GO:0002194)|hepatocyte differentiation (GO:0070365)|hepatocyte proliferation (GO:0072574)|kidney development (GO:0001822)|lens development in camera-type eye (GO:0002088)|lens fiber cell morphogenesis (GO:0070309)|liver development (GO:0001889)|lung development (GO:0030324)|lymphangiogenesis (GO:0001946)|lymphatic endothelial cell differentiation (GO:0060836)|negative regulation of bile acid biosynthetic process (GO:0070858)|negative regulation of cell proliferation (GO:0008285)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of viral genome replication (GO:0045071)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|olfactory placode formation (GO:0030910)|optic placode formation involved in camera-type eye formation (GO:0046619)|otic placode formation (GO:0043049)|pancreas development (GO:0031016)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell cycle checkpoint (GO:1901978)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045737)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of forebrain neuron differentiation (GO:2000979)|positive regulation of heart growth (GO:0060421)|positive regulation of neural precursor cell proliferation (GO:2000179)|positive regulation of sarcomere organization (GO:0060298)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of circadian rhythm (GO:0042752)|regulation of gene expression (GO:0010468)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to nutrient levels (GO:0031667)|retina morphogenesis in camera-type eye (GO:0060042)|skeletal muscle thin filament assembly (GO:0030240)|venous blood vessel morphogenesis (GO:0048845)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular cardiac myofibril assembly (GO:0055005)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	core promoter sequence-specific DNA binding (GO:0001046)|DBD domain binding (GO:0050692)|DNA binding (GO:0003677)|LBD domain binding (GO:0050693)|ligand-dependent nuclear receptor binding (GO:0016922)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)|transcription regulatory region DNA binding (GO:0044212)			autonomic_ganglia(1)|breast(3)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(6)|lung(15)|ovary(3)|prostate(2)|skin(4)	47				OV - Ovarian serous cystadenocarcinoma(81;0.0179)|all cancers(67;0.0488)|GBM - Glioblastoma multiforme(131;0.188)|Epithelial(68;0.219)		CTTCTCCGACGTAAAGGTAGG	0.383																																																	0			1											85.0	84.0	85.0					1																	214178610		2203	4300	6503	212245233	SO:0001583	missense	5629			U44060	CCDS31021.1	1q41	2011-06-20	2007-06-01		ENSG00000117707	ENSG00000117707		"""Homeoboxes / PROS class"""	9459	protein-coding gene	gene with protein product		601546	"""prospero-related homeobox 1"""			8812486	Standard	NM_002763		Approved		uc001hkg.2	Q92786	OTTHUMG00000036946	ENST00000366958.4:c.1828G>A	1.37:g.214178610G>A	ENSP00000355925:p.Val610Ile	Somatic		Capture	Illumina HiSeq	Phase_I	212245233	A6NK29|A8K2B1|Q5SW76|Q8TB91	Missense_Mutation	SNP	ENST00000366958.4	37	CCDS31021.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.957382	0.73902	.	.	ENSG00000117707	ENST00000541470;ENST00000498508;ENST00000366958;ENST00000435016;ENST00000261454	T;T;T;T	0.48522	0.81;0.81;0.81;0.81	5.62	5.62	0.85841	Homeo-prospero domain (1);Homeodomain-like (1);	0.000000	0.85682	D	0.000000	T	0.64371	0.2592	L	0.49640	1.575	0.80722	D	1	D	0.65815	0.995	D	0.66847	0.947	T	0.61749	-0.6999	10	0.46703	T	0.11	-3.7078	19.6753	0.95930	0.0:0.0:1.0:0.0	.	610	Q92786	PROX1_HUMAN	I	182;610;610;610;610	ENSP00000420283:V610I;ENSP00000355925:V610I;ENSP00000400694:V610I;ENSP00000261454:V610I	ENSP00000261454:V610I	V	+	1	0	PROX1	212245233	1.000000	0.71417	0.981000	0.43875	0.556000	0.35491	9.869000	0.99810	2.648000	0.89879	0.563000	0.77884	GTA		PROX1-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089727.6	NM_002763	
CENPF	1063	hgsc.bcm.edu	37	1	214815522	214815522	+	Missense_Mutation	SNP	A	A	G			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr1:214815522A>G	ENST00000366955.3	+	12	4009	c.3841A>G	c.(3841-3843)Aca>Gca	p.T1281A		NM_016343.3	NP_057427.3	P49454	CENPF_HUMAN	centromere protein F, 350/400kDa	0					cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|chromosome segregation (GO:0007059)|DNA replication (GO:0006260)|G2/M transition of mitotic cell cycle (GO:0000086)|kinetochore assembly (GO:0051382)|metaphase plate congression (GO:0051310)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|muscle organ development (GO:0007517)|negative regulation of transcription, DNA-templated (GO:0045892)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|regulation of striated muscle tissue development (GO:0016202)|response to drug (GO:0042493)	chromosome, centromeric region (GO:0000775)|condensed chromosome outer kinetochore (GO:0000940)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|midbody (GO:0030496)|nuclear envelope (GO:0005635)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)|pronucleus (GO:0045120)|spindle (GO:0005819)|spindle pole (GO:0000922)	chromatin binding (GO:0003682)|dynein binding (GO:0045502)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)	p.T1281A(1)		NS(2)|breast(2)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(37)|lung(47)|ovary(7)|prostate(3)|skin(6)|stomach(1)|urinary_tract(1)	126				all cancers(67;0.00836)|OV - Ovarian serous cystadenocarcinoma(81;0.00855)|GBM - Glioblastoma multiforme(131;0.0694)|Epithelial(68;0.0833)		TGAGTTGTCAACAAGTCAAAA	0.398																																					Colon(80;575 1284 11000 14801 43496)												1	Substitution - Missense(1)	ovary(1)	1											65.0	64.0	64.0					1																	214815522		2203	4300	6503	212882145	SO:0001583	missense	1063			U30872	CCDS31023.1	1q41	2013-11-05	2013-01-17		ENSG00000117724	ENSG00000117724			1857	protein-coding gene	gene with protein product	"""mitosin"""	600236	"""centromere protein F, 350/400kDa (mitosin)"""			7904902, 7851898	Standard	NM_016343		Approved	hcp-1	uc001hkm.3	P49454	OTTHUMG00000036955	ENST00000366955.3:c.3841A>G	1.37:g.214815522A>G	ENSP00000355922:p.Thr1281Ala	Somatic		Capture	Illumina HiSeq	Phase_I	212882145	Q13171|Q13246|Q5VVM7	Missense_Mutation	SNP	ENST00000366955.3	37	CCDS31023.1	.	.	.	.	.	.	.	.	.	.	A	8.998	0.979336	0.18812	.	.	ENSG00000117724	ENST00000366955	T	0.22539	1.95	4.96	-2.4	0.06583	.	0.410430	0.18039	N	0.153662	T	0.06280	0.0162	.	.	.	0.23598	N	0.997326	B	0.22683	0.073	B	0.19946	0.027	T	0.31280	-0.9949	9	0.09590	T	0.72	.	1.1552	0.01794	0.337:0.2719:0.2583:0.1327	.	1281	P49454	CENPF_HUMAN	A	1281	ENSP00000355922:T1281A	ENSP00000355922:T1281A	T	+	1	0	CENPF	212882145	0.000000	0.05858	0.988000	0.46212	0.845000	0.48019	-2.184000	0.01254	-0.059000	0.13154	0.418000	0.28097	ACA		CENPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089749.1	NM_016343	
RYR2	6262	hgsc.bcm.edu	37	1	237881796	237881796	+	Missense_Mutation	SNP	G	G	A	rs375947003		TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr1:237881796G>A	ENST00000366574.2	+	73	10846	c.10529G>A	c.(10528-10530)cGc>cAc	p.R3510H	RYR2_ENST00000609119.1_3'UTR|RYR2_ENST00000542537.1_Missense_Mutation_p.R3494H|RYR2_ENST00000360064.6_Missense_Mutation_p.R3508H	NM_001035.2	NP_001026.2	Q92736	RYR2_HUMAN	ryanodine receptor 2 (cardiac)	3510					BMP signaling pathway (GO:0030509)|calcium ion transport (GO:0006816)|calcium ion transport into cytosol (GO:0060402)|calcium-mediated signaling (GO:0019722)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle contraction (GO:0060048)|cardiac muscle hypertrophy (GO:0003300)|cell communication by electrical coupling involved in cardiac conduction (GO:0086064)|cellular calcium ion homeostasis (GO:0006874)|cellular response to caffeine (GO:0071313)|cellular response to epinephrine stimulus (GO:0071872)|cytosolic calcium ion homeostasis (GO:0051480)|detection of calcium ion (GO:0005513)|embryonic heart tube morphogenesis (GO:0003143)|establishment of protein localization to endoplasmic reticulum (GO:0072599)|ion transmembrane transport (GO:0034220)|left ventricular cardiac muscle tissue morphogenesis (GO:0003220)|positive regulation of calcium-transporting ATPase activity (GO:1901896)|positive regulation of heart rate (GO:0010460)|positive regulation of ryanodine-sensitive calcium-release channel activity by adrenergic receptor signaling pathway involved in positive regulation of cardiac muscle contraction (GO:0086094)|positive regulation of sequestering of calcium ion (GO:0051284)|Purkinje myocyte to ventricular cardiac muscle cell signaling (GO:0086029)|regulation of cardiac muscle contraction (GO:0055117)|regulation of cardiac muscle contraction by regulation of the release of sequestered calcium ion (GO:0010881)|regulation of heart rate (GO:0002027)|release of sequestered calcium ion into cytosol (GO:0051209)|release of sequestered calcium ion into cytosol by sarcoplasmic reticulum (GO:0014808)|response to caffeine (GO:0031000)|response to hypoxia (GO:0001666)|response to redox state (GO:0051775)|sarcoplasmic reticulum calcium ion transport (GO:0070296)|transmembrane transport (GO:0055085)|type B pancreatic cell apoptotic process (GO:0097050)|ventricular cardiac muscle cell action potential (GO:0086005)	calcium channel complex (GO:0034704)|extracellular vesicular exosome (GO:0070062)|junctional sarcoplasmic reticulum membrane (GO:0014701)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|Z disc (GO:0030018)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)|calcium-induced calcium release activity (GO:0048763)|calcium-release channel activity (GO:0015278)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|intracellular ligand-gated calcium channel activity (GO:0005218)|ion channel binding (GO:0044325)|protein kinase A catalytic subunit binding (GO:0034236)|protein kinase A regulatory subunit binding (GO:0034237)|ryanodine-sensitive calcium-release channel activity (GO:0005219)|suramin binding (GO:0043924)			NS(4)|breast(8)|central_nervous_system(11)|cervix(2)|endometrium(39)|haematopoietic_and_lymphoid_tissue(5)|kidney(17)|large_intestine(83)|liver(4)|lung(353)|ovary(18)|pancreas(5)|prostate(12)|skin(8)|stomach(1)|upper_aerodigestive_tract(12)|urinary_tract(4)	586	Ovarian(103;0.103)	all_cancers(173;0.000368)|Melanoma(53;0.0179)|all_epithelial(177;0.0225)	OV - Ovarian serous cystadenocarcinoma(106;0.00606)			GATATAATCCGCAGCAATATT	0.313																																																	0			1						G	HIS/ARG	0,3688		0,0,1844	69.0	65.0	66.0		10529	5.7	1.0	1		66	1,8165		0,1,4082	no	missense	RYR2	NM_001035.2	29	0,1,5926	AA,AG,GG		0.0122,0.0,0.0084	possibly-damaging	3510/4968	237881796	1,11853	1844	4083	5927	235948419	SO:0001583	missense	6262			X91869	CCDS55691.1	1q43	2014-09-17			ENSG00000198626	ENSG00000198626		"""Ion channels / Ryanodine receptors"", ""EF-hand domain containing"""	10484	protein-coding gene	gene with protein product		180902	"""arrhythmogenic right ventricular dysplasia 2"""	ARVD2		2380170, 8406504, 11159936	Standard	NM_001035		Approved	ARVC2, VTSIP	uc001hyl.1	Q92736	OTTHUMG00000039543	ENST00000366574.2:c.10529G>A	1.37:g.237881796G>A	ENSP00000355533:p.Arg3510His	Somatic		Capture	Illumina HiSeq	Phase_I	235948419	Q15411|Q546N8|Q5T3P2	Missense_Mutation	SNP	ENST00000366574.2	37	CCDS55691.1	.	.	.	.	.	.	.	.	.	.	G	19.76	3.887672	0.72410	0.0	1.22E-4	ENSG00000198626	ENST00000366574;ENST00000360064;ENST00000542537;ENST00000542288	D;D;D	0.96651	-4.08;-4.05;-4.08	5.66	5.66	0.87406	.	0.098059	0.41194	D	0.000935	D	0.89532	0.6742	N	0.04880	-0.145	0.80722	D	1	B	0.26400	0.148	B	0.12837	0.008	D	0.86794	0.1987	10	0.41790	T	0.15	-11.055	13.0125	0.58739	0.0735:0.0:0.9265:0.0	.	3510	Q92736	RYR2_HUMAN	H	3510;3508;3494;465	ENSP00000355533:R3510H;ENSP00000353174:R3508H;ENSP00000443798:R3494H	ENSP00000353174:R3508H	R	+	2	0	RYR2	235948419	0.674000	0.27549	1.000000	0.80357	0.995000	0.86356	1.992000	0.40737	2.662000	0.90505	0.650000	0.86243	CGC		RYR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095402.2	NM_001035	
CHML	1122	hgsc.bcm.edu	37	1	241797529	241797529	+	Missense_Mutation	SNP	A	A	G			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr1:241797529A>G	ENST00000366553.1	-	1	1703	c.1540T>C	c.(1540-1542)Tct>Cct	p.S514P	OPN3_ENST00000331838.5_Intron|OPN3_ENST00000469376.1_Intron|OPN3_ENST00000366554.2_Intron	NM_001821.3	NP_001812.2	P26374	RAE2_HUMAN	choroideremia-like (Rab escort protein 2)	514					intracellular protein transport (GO:0006886)|protein geranylgeranylation (GO:0018344)	Rab-protein geranylgeranyltransferase complex (GO:0005968)	GTPase activator activity (GO:0005096)|Rab geranylgeranyltransferase activity (GO:0004663)|Rab GTPase binding (GO:0017137)			breast(2)|endometrium(1)|kidney(2)|large_intestine(6)|lung(7)|ovary(4)|skin(3)|stomach(1)	26	Ovarian(103;0.103)|all_lung(81;0.23)	all_cancers(173;0.0231)	OV - Ovarian serous cystadenocarcinoma(106;0.0125)			GTTTTAGAAGATGAACATGTC	0.408																																																	0			1											83.0	79.0	80.0					1																	241797529		2203	4299	6502	239864152	SO:0001583	missense	1122			X64728	CCDS31073.1	1q43	2013-09-19			ENSG00000203668	ENSG00000203668			1941	protein-coding gene	gene with protein product		118825				7981670	Standard	NM_001821		Approved	REP-2	uc001hzd.3	P26374	OTTHUMG00000039690	ENST00000366553.1:c.1540T>C	1.37:g.241797529A>G	ENSP00000355511:p.Ser514Pro	Somatic		Capture	Illumina HiSeq	Phase_I	239864152	B2RAB9|Q17RE0|Q9H1Y4	Missense_Mutation	SNP	ENST00000366553.1	37	CCDS31073.1	.	.	.	.	.	.	.	.	.	.	A	17.51	3.408477	0.62399	.	.	ENSG00000203668	ENST00000366553	D	0.84370	-1.84	5.08	5.08	0.68730	.	0.000000	0.85682	U	0.000000	D	0.91499	0.7316	.	.	.	0.53005	D	0.999965	D	0.89917	1.0	D	0.81914	0.995	D	0.91859	0.5498	9	0.54805	T	0.06	-13.9275	13.1474	0.59470	1.0:0.0:0.0:0.0	.	514	P26374	RAE2_HUMAN	P	514	ENSP00000355511:S514P	ENSP00000355511:S514P	S	-	1	0	CHML	239864152	1.000000	0.71417	0.932000	0.37286	0.971000	0.66376	5.659000	0.68010	2.281000	0.76405	0.533000	0.62120	TCT		CHML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095712.1	NM_001821	
CEP170	9859	hgsc.bcm.edu	37	1	243385111	243385111	+	Missense_Mutation	SNP	C	C	T			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr1:243385111C>T	ENST00000366542.1	-	3	161	c.110G>A	c.(109-111)cGt>cAt	p.R37H	AC092782.1_ENST00000596590.1_5'Flank|CEP170_ENST00000366543.1_Missense_Mutation_p.R37H|CEP170_ENST00000366544.1_Missense_Mutation_p.R37H	NM_014812.2	NP_055627.2	Q5SW79	CE170_HUMAN	centrosomal protein 170kDa	37	FHA. {ECO:0000255|PROSITE- ProRule:PRU00086}.					centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|microtubule (GO:0005874)|nuclear membrane (GO:0031965)				NS(1)|breast(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(1)	62	all_neural(11;0.101)	all_cancers(173;0.003)	all cancers(7;5.81e-06)|GBM - Glioblastoma multiforme(7;0.000443)|OV - Ovarian serous cystadenocarcinoma(106;0.0101)			ATCCACACTACGAGACTGAAA	0.368																																																	0			1											75.0	66.0	69.0					1																	243385111		1878	4106	5984	241451734	SO:0001583	missense	9859			AB022657	CCDS44337.1, CCDS44338.1, CCDS44339.1	1q44	2014-02-20	2006-01-12	2006-01-12	ENSG00000143702	ENSG00000143702			28920	protein-coding gene	gene with protein product	"""KARP 1 binding protein"", ""XRCC5 binding protein"""	613023	"""KIAA0470"""	KIAA0470		15616186	Standard	NM_014812		Approved	KAB, FAM68A	uc021plo.1	Q5SW79	OTTHUMG00000039862	ENST00000366542.1:c.110G>A	1.37:g.243385111C>T	ENSP00000355500:p.Arg37His	Somatic		Capture	Illumina HiSeq	Phase_I	241451734	O75058|Q5SW77|Q5SW78|Q7LGA9|Q86W31|Q9UQ08|Q9UQ09	Missense_Mutation	SNP	ENST00000366542.1	37	CCDS44339.1	.	.	.	.	.	.	.	.	.	.	C	34	5.301248	0.95601	.	.	ENSG00000143702	ENST00000366542;ENST00000366544;ENST00000366543;ENST00000522191;ENST00000523424;ENST00000522995	D;D;D;D;D;D	0.87029	-2.2;-2.2;-2.2;-2.2;-2.2;-2.2	5.49	5.49	0.81192	Forkhead-associated (FHA) domain (4);SMAD/FHA domain (1);	0.000000	0.85682	D	0.000000	D	0.90978	0.7163	L	0.37800	1.135	0.80722	D	1	D;D;D	0.76494	0.978;0.995;0.999	P;D;D	0.87578	0.907;0.913;0.998	D	0.91320	0.5081	10	0.62326	D	0.03	-8.6224	19.7314	0.96182	0.0:1.0:0.0:0.0	.	37;37;37	Q5SW79-3;Q5SW79-2;Q5SW79	.;.;CE170_HUMAN	H	37	ENSP00000355500:R37H;ENSP00000355502:R37H;ENSP00000355501:R37H;ENSP00000427944:R37H;ENSP00000428183:R37H;ENSP00000428400:R37H	ENSP00000355500:R37H	R	-	2	0	CEP170	241451734	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.409000	0.80053	2.727000	0.93392	0.655000	0.94253	CGT		CEP170-003	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096178.2	NM_014812	
TENM4	26011	hgsc.bcm.edu	37	11	78775867	78775867	+	Missense_Mutation	SNP	G	G	A			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr11:78775867G>A	ENST00000278550.7	-	6	871	c.409C>T	c.(409-411)Cgg>Tgg	p.R137W		NM_001098816.2	NP_001092286.2	Q6N022	TEN4_HUMAN	teneurin transmembrane protein 4	137	Teneurin N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00694}.				cardiac cell fate specification (GO:0060912)|cardiac muscle cell proliferation (GO:0060038)|central nervous system myelin formation (GO:0032289)|gastrulation with mouth forming second (GO:0001702)|neuron development (GO:0048666)|positive regulation of gastrulation (GO:2000543)|positive regulation of myelination (GO:0031643)|positive regulation of oligodendrocyte differentiation (GO:0048714)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)										CGCCCTGACCGTGTGCTCCGG	0.637																																																	0			11											34.0	34.0	34.0					11																	78775867		692	1591	2283	78453515	SO:0001583	missense	26011			AB037723	CCDS44688.1	11q13	2012-10-02	2012-10-02	2012-10-02		ENSG00000149256			29945	protein-coding gene	gene with protein product		610084	"""odz, odd Oz/ten-m homolog 4 (Drosophila)"""	ODZ4		12000766, 10625539	Standard	NM_001098816		Approved	KIAA1302, Ten-M4	uc001ozl.4	Q6N022		ENST00000278550.7:c.409C>T	11.37:g.78775867G>A	ENSP00000278550:p.Arg137Trp	Somatic		Capture	Illumina HiSeq	Phase_I	78453515	A6ND26|Q7Z3C7|Q96MS6|Q9P2P4|Q9Y4S2	Missense_Mutation	SNP	ENST00000278550.7	37	CCDS44688.1	.	.	.	.	.	.	.	.	.	.	G	21.0	4.080501	0.76528	.	.	ENSG00000149256	ENST00000278550	T	0.32272	1.46	4.69	2.65	0.31530	Teneurin intracellular, N-terminal (2);	0.078973	0.49305	D	0.000148	T	0.27594	0.0678	N	0.08118	0	0.38923	D	0.957787	D;P	0.76494	0.999;0.913	P;P	0.62298	0.9;0.532	T	0.09729	-1.0661	9	.	.	.	.	11.3404	0.49529	0.0:0.0:0.4413:0.5586	.	137;137	G3CAT1;Q6N022	.;TEN4_HUMAN	W	137	ENSP00000278550:R137W	.	R	-	1	2	ODZ4	78453515	1.000000	0.71417	0.953000	0.39169	0.928000	0.56348	3.763000	0.55257	1.317000	0.45149	-0.311000	0.09066	CGG		TENM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391406.2		
MAML2	84441	hgsc.bcm.edu	37	11	95713012	95713012	+	Missense_Mutation	SNP	C	C	A			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr11:95713012C>A	ENST00000524717.1	-	5	3855	c.2571G>T	c.(2569-2571)atG>atT	p.M857I		NM_032427.1	NP_115803.1	Q8IZL2	MAML2_HUMAN	mastermind-like 2 (Drosophila)	857					gene expression (GO:0010467)|Notch signaling pathway (GO:0007219)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription initiation from RNA polymerase II promoter (GO:0006367)	Golgi apparatus (GO:0005794)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)	p.M857I(1)	CRTC3/MAML2(26)|CRTC1/MAML2(516)	breast(2)|cervix(1)|endometrium(11)|kidney(4)|large_intestine(8)|lung(12)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	43		Acute lymphoblastic leukemia(157;2.63e-05)|all_hematologic(158;0.00837)				ATAATGATGGCATTCTTGTCC	0.413			T	"""MECT1, CRTC3"""	salivary gland mucoepidermoid																																			Dom	yes		11	11q22-q23	84441	mastermind-like 2 (Drosophila)		E	1	Substitution - Missense(1)	lung(1)	11											169.0	157.0	161.0					11																	95713012		1913	4119	6032	95352660	SO:0001583	missense	84441			AB058722	CCDS44714.1	11q	2008-02-05	2001-11-28		ENSG00000184384	ENSG00000184384			16259	protein-coding gene	gene with protein product		607537	"""mastermind (Drosophila)-like 2"""			12370315, 12386158	Standard	NM_032427		Approved	KIAA1819, MAM3	uc001pfw.1	Q8IZL2	OTTHUMG00000167677	ENST00000524717.1:c.2571G>T	11.37:g.95713012C>A	ENSP00000434552:p.Met857Ile	Somatic		Capture	Illumina HiSeq	Phase_I	95352660	A7MD26|Q6AI23|Q6Y3A3|Q8IUL3|Q96JK6	Missense_Mutation	SNP	ENST00000524717.1	37	CCDS44714.1	.	.	.	.	.	.	.	.	.	.	C	1.011	-0.687827	0.03328	.	.	ENSG00000184384	ENST00000524717;ENST00000440572	T;T	0.41065	1.01;1.01	5.08	4.17	0.49024	.	0.137304	0.49305	D	0.000146	T	0.36331	0.0963	L	0.53249	1.67	0.35310	D	0.783783	B	0.30824	0.296	B	0.26310	0.068	T	0.45220	-0.9276	10	0.22706	T	0.39	-2.783	13.7438	0.62863	0.0:0.925:0.0:0.075	.	857	Q8IZL2	MAML2_HUMAN	I	857	ENSP00000434552:M857I;ENSP00000412394:M857I	ENSP00000412394:M857I	M	-	3	0	MAML2	95352660	1.000000	0.71417	0.109000	0.21407	0.253000	0.25986	2.904000	0.48719	1.276000	0.44395	0.650000	0.86243	ATG		MAML2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395540.1		
TRPC6	7225	hgsc.bcm.edu	37	11	101344265	101344265	+	Missense_Mutation	SNP	C	C	A			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr11:101344265C>A	ENST00000344327.3	-	7	2408	c.1984G>T	c.(1984-1986)Gca>Tca	p.A662S	TRPC6_ENST00000348423.4_Missense_Mutation_p.A546S|TRPC6_ENST00000360497.4_Missense_Mutation_p.A607S|TRPC6_ENST00000532133.1_Missense_Mutation_p.A584S	NM_004621.5	NP_004612.2	Q9Y210	TRPC6_HUMAN	transient receptor potential cation channel, subfamily C, member 6	662					aging (GO:0007568)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|calcium ion transmembrane transport (GO:0070588)|cation transport (GO:0006812)|cellular response to hydrogen peroxide (GO:0070301)|cellular response to hypoxia (GO:0071456)|ion transmembrane transport (GO:0034220)|platelet activation (GO:0030168)|positive regulation of calcium ion transport (GO:0051928)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of ion transmembrane transporter activity (GO:0032414)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|slit diaphragm (GO:0036057)	inositol 1,4,5 trisphosphate binding (GO:0070679)|store-operated calcium channel activity (GO:0015279)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(3)|kidney(3)|large_intestine(14)|lung(17)|ovary(2)|pancreas(1)|prostate(1)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(1)	55		Acute lymphoblastic leukemia(157;0.000918)|all_hematologic(158;0.0162)		BRCA - Breast invasive adenocarcinoma(274;0.0442)		TTTTGTTTTGCACCAATGTAG	0.318																																					Colon(166;1315 1927 11094 12848 34731)												0			11											69.0	65.0	67.0					11																	101344265		2202	4297	6499	100849475	SO:0001583	missense	7225			AJ006276	CCDS8311.1	11q22.1	2014-02-04				ENSG00000137672		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	12338	protein-coding gene	gene with protein product		603652	"""focal segmental glomerulosclerosis 2"""	FSGS2		9925922, 16382100, 15879175	Standard	NM_004621		Approved	TRP6	uc001pgk.4	Q9Y210		ENST00000344327.3:c.1984G>T	11.37:g.101344265C>A	ENSP00000340913:p.Ala662Ser	Somatic		Capture	Illumina HiSeq	Phase_I	100849475	Q52M59|Q9HCW3|Q9NQA8|Q9NQA9	Missense_Mutation	SNP	ENST00000344327.3	37	CCDS8311.1	.	.	.	.	.	.	.	.	.	.	C	18.74	3.687856	0.68271	.	.	ENSG00000137672	ENST00000344327;ENST00000532133;ENST00000348423;ENST00000360497	D;D;D;D	0.98493	-4.96;-4.96;-4.34;-4.34	5.72	5.72	0.89469	Ion transport (1);	0.000000	0.85682	D	0.000000	D	0.97980	0.9335	L	0.41906	1.305	0.80722	D	1	D;D;D	0.76494	0.997;0.999;0.997	D;D;D	0.71656	0.931;0.974;0.959	D	0.96272	0.9199	10	0.08837	T	0.75	-4.1648	19.8968	0.96969	0.0:1.0:0.0:0.0	.	607;546;662	Q9Y210-3;Q9Y210-2;Q9Y210	.;.;TRPC6_HUMAN	S	662;584;546;607	ENSP00000340913:A662S;ENSP00000435574:A584S;ENSP00000343672:A546S;ENSP00000353687:A607S	ENSP00000340913:A662S	A	-	1	0	TRPC6	100849475	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.807000	0.86032	2.691000	0.91804	0.655000	0.94253	GCA		TRPC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000394770.1	NM_004621	
DYNC2H1	79659	hgsc.bcm.edu	37	11	102985923	102985923	+	Missense_Mutation	SNP	G	G	A			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr11:102985923G>A	ENST00000375735.2	+	4	664	c.520G>A	c.(520-522)Gat>Aat	p.D174N	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.D174N|DYNC2H1_ENST00000334267.7_Missense_Mutation_p.D174N	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	174	Stem. {ECO:0000250}.			D -> G (in Ref. 1; BAE17138). {ECO:0000305}.	antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)	p.D174N(1)		NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TACACCAAGCGATGAGTTCCA	0.323																																																	1	Substitution - Missense(1)	large_intestine(1)	11											62.0	52.0	55.0					11																	102985923		1812	4070	5882	102491133	SO:0001583	missense	79659			AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.520G>A	11.37:g.102985923G>A	ENSP00000364887:p.Asp174Asn	Somatic		Capture	Illumina HiSeq	Phase_I	102491133	O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	G	23.4	4.410138	0.83340	.	.	ENSG00000187240	ENST00000375735;ENST00000334267;ENST00000398093	T;T;T	0.59638	1.18;0.25;1.18	5.28	5.28	0.74379	.	0.279169	0.27478	U	0.019197	T	0.78666	0.4319	M	0.81497	2.545	0.58432	D	0.999999	D;D;D	0.89917	1.0;0.991;0.997	D;P;P	0.87578	0.998;0.754;0.842	T	0.81653	-0.0835	10	0.87932	D	0	.	18.9329	0.92574	0.0:0.0:1.0:0.0	.	174;174;174	Q8NCM8-3;Q8NCM8;Q8NCM8-2	.;DYHC2_HUMAN;.	N	174	ENSP00000364887:D174N;ENSP00000334021:D174N;ENSP00000381167:D174N	ENSP00000334021:D174N	D	+	1	0	DYNC2H1	102491133	1.000000	0.71417	1.000000	0.80357	0.623000	0.37688	8.909000	0.92647	2.465000	0.83290	0.655000	0.94253	GAT		DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652	
OR4D5	219875	hgsc.bcm.edu	37	11	123811041	123811041	+	Missense_Mutation	SNP	T	T	C			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr11:123811041T>C	ENST00000307033.2	+	1	792	c.718T>C	c.(718-720)Tgt>Cgt	p.C240R		NM_001001965.1	NP_001001965.1	Q8NGN0	OR4D5_HUMAN	olfactory receptor, family 4, subfamily D, member 5	240						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			autonomic_ganglia(1)|endometrium(2)|kidney(2)|large_intestine(4)|lung(17)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	41		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		CCTGTCTACCTGTGCCTCTCA	0.542																																																	0			11											237.0	195.0	209.0					11																	123811041		2202	4299	6501	123316251	SO:0001583	missense	219875			BK004316	CCDS31699.1	11q24.1	2012-08-09			ENSG00000171014	ENSG00000171014		"""GPCR / Class A : Olfactory receptors"""	14852	protein-coding gene	gene with protein product							Standard	NM_001001965		Approved		uc001pzk.1	Q8NGN0	OTTHUMG00000165961	ENST00000307033.2:c.718T>C	11.37:g.123811041T>C	ENSP00000305970:p.Cys240Arg	Somatic		Capture	Illumina HiSeq	Phase_I	123316251	B9EGZ4|Q6IFE6	Missense_Mutation	SNP	ENST00000307033.2	37	CCDS31699.1	.	.	.	.	.	.	.	.	.	.	T	17.03	3.284937	0.59867	.	.	ENSG00000171014	ENST00000307033	T	0.00372	7.73	5.49	5.49	0.81192	GPCR, rhodopsin-like superfamily (1);	0.000000	0.52532	D	0.000063	T	0.01976	0.0062	H	0.97390	3.995	0.58432	D	0.999999	D	0.89917	1.0	D	0.85130	0.997	T	0.10086	-1.0645	10	0.87932	D	0	-10.1946	15.2419	0.73476	0.0:0.0:0.0:1.0	.	240	Q8NGN0	OR4D5_HUMAN	R	240	ENSP00000305970:C240R	ENSP00000305970:C240R	C	+	1	0	OR4D5	123316251	1.000000	0.71417	0.999000	0.59377	0.758000	0.43043	7.739000	0.84976	2.078000	0.62432	0.528000	0.53228	TGT		OR4D5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387263.1	NM_001001965	
F13A1	2162	hgsc.bcm.edu	37	6	6174830	6174830	+	Missense_Mutation	SNP	G	G	A	rs143711562	byFrequency	TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr6:6174830G>A	ENST00000264870.3	-	12	1995	c.1730C>T	c.(1729-1731)aCg>aTg	p.T577M		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	577					blood coagulation (GO:0007596)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.T577M(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	GGGCTCCAGCGTCACGTCGAA	0.512													G|||	5	0.000998403	0.0008	0.0	5008	,	,		18423	0.0		0.004	False		,,,				2504	0.0																1	Substitution - Missense(1)	large_intestine(1)	6						G	MET/THR	1,4405	2.1+/-5.4	0,1,2202	251.0	223.0	233.0		1730	-4.9	0.0	6	dbSNP_134	233	25,8575	17.3+/-56.4	0,25,4275	yes	missense	F13A1	NM_000129.3	81	0,26,6477	AA,AG,GG		0.2907,0.0227,0.1999	benign	577/733	6174830	26,12980	2203	4300	6503	6119829	SO:0001583	missense	2162			M14539	CCDS4496.1	6p24.2-p23	2014-01-24			ENSG00000124491	ENSG00000124491		"""Transglutaminases"""	3531	protein-coding gene	gene with protein product		134570		F13A			Standard	NM_000129		Approved		uc003mwv.3	P00488	OTTHUMG00000014186	ENST00000264870.3:c.1730C>T	6.37:g.6174830G>A	ENSP00000264870:p.Thr577Met	Somatic		Capture	Illumina HiSeq	Phase_I	6119829	Q59HA7|Q8N6X2|Q96P24|Q9BX29	Missense_Mutation	SNP	ENST00000264870.3	37	CCDS4496.1	3	0.0013736263736263737	0	0.0	0	0.0	0	0.0	3	0.00395778364116095	G	5.273	0.235816	0.10023	2.27E-4	0.002907	ENSG00000124491	ENST00000264870;ENST00000441301	T	0.70749	-0.51	5.77	-4.92	0.03075	Transglutaminase, C-terminal (2);Immunoglobulin-like fold (1);	0.949218	0.08841	N	0.885816	T	0.43144	0.1234	M	0.76002	2.32	0.09310	N	1	B;B	0.32918	0.321;0.39	B;B	0.26517	0.07;0.043	T	0.46205	-0.9208	10	0.56958	D	0.05	.	6.1051	0.20069	0.3301:0.0:0.3672:0.3027	.	514;577	F5H080;P00488	.;F13A_HUMAN	M	577;514	ENSP00000264870:T577M	ENSP00000264870:T577M	T	-	2	0	F13A1	6119829	0.000000	0.05858	0.000000	0.03702	0.229000	0.25112	-0.440000	0.06888	-0.759000	0.04684	-0.963000	0.02626	ACG		F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039756.3	NM_000129	
RREB1	6239	hgsc.bcm.edu	37	6	7248754	7248754	+	Silent	SNP	A	A	G			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr6:7248754A>G	ENST00000349384.6	+	12	4931	c.4617A>G	c.(4615-4617)ccA>ccG	p.P1539P	RREB1_ENST00000379933.3_Silent_p.P1539P|RREB1_ENST00000334984.6_Silent_p.P1328P|RREB1_ENST00000379938.2_Silent_p.P1594P	NM_001003698.3	NP_001003698.1	Q92766	RREB1_HUMAN	ras responsive element binding protein 1	1539					multicellular organismal development (GO:0007275)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription, DNA-templated (GO:0045893)|Ras protein signal transduction (GO:0007265)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear body (GO:0016604)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(3)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(5)|lung(18)|ovary(5)|pancreas(2)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	58	Ovarian(93;0.0398)	all_hematologic(90;0.0384)|Prostate(151;0.191)				GGGAAAGGCCATACAAATGTC	0.542																																																	0			6											69.0	66.0	67.0					6																	7248754		2203	4300	6503	7193753	SO:0001819	synonymous_variant	6239			U26914	CCDS34335.1, CCDS34336.1, CCDS54963.1	6p25	2013-01-08			ENSG00000124782	ENSG00000124782		"""Zinc fingers, C2H2-type"""	10449	protein-coding gene	gene with protein product	"""hindsight homolog (drosophila)"""	602209				9367691, 18394891	Standard	NM_001003698		Approved	HNT	uc003mxb.3	Q92766	OTTHUMG00000014201	ENST00000349384.6:c.4617A>G	6.37:g.7248754A>G		Somatic		Capture	Illumina HiSeq	Phase_I	7193753	A2RRF5|E2GM80|E2GM81|O75567|O75568|Q5VYB2|Q6BEP5|Q6BEP6|Q6BEP8|Q86SU2|Q9Y474	Silent	SNP	ENST00000349384.6	37	CCDS34336.1																																																																																				RREB1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000352985.1		
MAPK14	1432	hgsc.bcm.edu	37	6	36070418	36070418	+	Missense_Mutation	SNP	A	A	G			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr6:36070418A>G	ENST00000229794.4	+	10	1221	c.833A>G	c.(832-834)aAt>aGt	p.N278S	MAPK14_ENST00000310795.4_Intron|MAPK14_ENST00000229795.3_Missense_Mutation_p.N278S|MAPK14_ENST00000468133.1_Missense_Mutation_p.N201S	NM_139012.2|NM_139014.2	NP_620581.1|NP_620583.1	Q16539	MK14_HUMAN	mitogen-activated protein kinase 14	278	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				3'-UTR-mediated mRNA stabilization (GO:0070935)|activation of MAPK activity (GO:0000187)|angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cartilage condensation (GO:0001502)|cell morphogenesis (GO:0000902)|cell surface receptor signaling pathway (GO:0007166)|cellular component movement (GO:0006928)|cellular response to ionizing radiation (GO:0071479)|cellular response to lipopolysaccharide (GO:0071222)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|chemotaxis (GO:0006935)|chondrocyte differentiation (GO:0002062)|DNA damage checkpoint (GO:0000077)|fatty acid oxidation (GO:0019395)|gene expression (GO:0010467)|glucose metabolic process (GO:0006006)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|mRNA metabolic process (GO:0016071)|muscle cell differentiation (GO:0042692)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|myoblast differentiation involved in skeletal muscle regeneration (GO:0014835)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neurotrophin TRK receptor signaling pathway (GO:0048011)|osteoclast differentiation (GO:0030316)|p38MAPK cascade (GO:0038066)|peptidyl-serine phosphorylation (GO:0018105)|platelet activation (GO:0030168)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of muscle cell differentiation (GO:0051149)|positive regulation of myoblast differentiation (GO:0045663)|positive regulation of myoblast fusion (GO:1901741)|positive regulation of myotube differentiation (GO:0010831)|positive regulation of protein import into nucleus (GO:0042307)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Ras protein signal transduction (GO:0007265)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to muramyl dipeptide (GO:0032495)|RNA metabolic process (GO:0016070)|signal transduction (GO:0007165)|signal transduction in response to DNA damage (GO:0042770)|skeletal muscle tissue development (GO:0007519)|stress-activated MAPK cascade (GO:0051403)|stress-induced premature senescence (GO:0090400)|striated muscle cell differentiation (GO:0051146)|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)|transcription, DNA-templated (GO:0006351)|transmembrane receptor protein serine/threonine kinase signaling pathway (GO:0007178)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|spindle pole (GO:0000922)	ATP binding (GO:0005524)|MAP kinase activity (GO:0004707)|MAP kinase kinase activity (GO:0004708)|NFAT protein binding (GO:0051525)|protein serine/threonine kinase activity (GO:0004674)	p.N278I(1)		central_nervous_system(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)|stomach(1)	16						ATTGGTGCCAATCCCCTGGGT	0.368																																					Pancreas(20;8 363 26997 32430 36377 43317 49243 50560 51947)|Colon(176;951 1093 20177 30266 32328 34418 35271 44052 51610)												1	Substitution - Missense(1)	ovary(1)	6											200.0	195.0	197.0					6																	36070418		2203	4300	6503	36178396	SO:0001583	missense	1432			L35263	CCDS4815.1, CCDS4816.1, CCDS4817.1	6p21.3-p21.2	2011-06-09			ENSG00000112062	ENSG00000112062		"""Mitogen-activated protein kinase cascade / Kinases"""	6876	protein-coding gene	gene with protein product	"""p38 MAP kinase"""	600289		CSPB1, CSBP1, CSBP2		7997261	Standard	NM_139012		Approved	PRKM14, p38, Mxi2, PRKM15	uc003olq.3	Q16539	OTTHUMG00000159806	ENST00000229794.4:c.833A>G	6.37:g.36070418A>G	ENSP00000229794:p.Asn278Ser	Somatic		Capture	Illumina HiSeq	Phase_I	36178396	A6ZJ92|A8K6P4|B0LPH0|B5TY32|O60776|Q13083|Q14084|Q8TDX0	Missense_Mutation	SNP	ENST00000229794.4	37	CCDS4816.1	.	.	.	.	.	.	.	.	.	.	A	10.51	1.370732	0.24771	.	.	ENSG00000112062	ENST00000229795;ENST00000229794;ENST00000468133	T;T;T	0.10477	2.87;2.87;2.87	4.82	4.82	0.62117	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	0.85682	D	0.000000	T	0.01695	0.0054	N	0.01015	-1.05	0.80722	D	1	B;B;B	0.30211	0.273;0.011;0.045	B;B;B	0.26770	0.073;0.011;0.011	T	0.44528	-0.9322	10	0.66056	D	0.02	.	14.6663	0.68910	1.0:0.0:0.0:0.0	.	278;278;278	Q16539;Q16539-2;Q16539-3	MK14_HUMAN;.;.	S	278;278;201	ENSP00000229795:N278S;ENSP00000229794:N278S;ENSP00000419837:N201S	ENSP00000229794:N278S	N	+	2	0	MAPK14	36178396	1.000000	0.71417	0.998000	0.56505	0.760000	0.43138	9.287000	0.95975	1.932000	0.55993	0.459000	0.35465	AAT		MAPK14-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000357450.1	NM_001315	
PKHD1	5314	hgsc.bcm.edu	37	6	51618063	51618063	+	Silent	SNP	G	G	A	rs138464473		TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr6:51618063G>A	ENST00000371117.3	-	57	9161	c.8886C>T	c.(8884-8886)gaC>gaT	p.D2962D	PKHD1_ENST00000340994.4_Silent_p.D2962D	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	2962			D -> G (in ARPKD). {ECO:0000269|PubMed:15108281}.		cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TACATGATACGTCAGGCTGAA	0.463													g|||	1	0.000199681	0.0	0.0	5008	,	,		16593	0.0		0.001	False		,,,				2504	0.0																0			6											113.0	102.0	106.0					6																	51618063		2203	4300	6503	51726022	SO:0001819	synonymous_variant	5314			AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.8886C>T	6.37:g.51618063G>A		Somatic		Capture	Illumina HiSeq	Phase_I	51726022	Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Silent	SNP	ENST00000371117.3	37	CCDS4935.1																																																																																				PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694	
DST	667	hgsc.bcm.edu	37	6	56497759	56497759	+	Missense_Mutation	SNP	T	T	C			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr6:56497759T>C	ENST00000361203.3	-	24	3072	c.3065A>G	c.(3064-3066)gAt>gGt	p.D1022G	DST_ENST00000370769.4_Missense_Mutation_p.D1022G|DST_ENST00000244364.6_Missense_Mutation_p.D696G|DST_ENST00000446842.2_Missense_Mutation_p.D696G|DST_ENST00000370788.2_Missense_Mutation_p.D1022G|DST_ENST00000370765.6_Missense_Mutation_p.D696G|DST_ENST00000370754.5_Missense_Mutation_p.D1200G|DST_ENST00000421834.2_Missense_Mutation_p.D1022G|DST_ENST00000312431.6_Missense_Mutation_p.D1022G|DST_ENST00000518935.1_Missense_Mutation_p.D696G			Q03001	DYST_HUMAN	dystonin	1022					axonogenesis (GO:0007409)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cytoplasmic microtubule organization (GO:0031122)|cytoskeleton organization (GO:0007010)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)|integrin-mediated signaling pathway (GO:0007229)|intermediate filament cytoskeleton organization (GO:0045104)|maintenance of cell polarity (GO:0030011)|microtubule cytoskeleton organization (GO:0000226)|regulation of microtubule polymerization or depolymerization (GO:0031110)|response to wounding (GO:0009611)|retrograde axon cargo transport (GO:0008090)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|basal plasma membrane (GO:0009925)|basement membrane (GO:0005604)|cell leading edge (GO:0031252)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|integral component of membrane (GO:0016021)|intermediate filament (GO:0005882)|intermediate filament cytoskeleton (GO:0045111)|microtubule cytoskeleton (GO:0015630)|microtubule plus-end (GO:0035371)|neurofilament cytoskeleton (GO:0060053)|nucleus (GO:0005634)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|microtubule plus-end binding (GO:0051010)|protein C-terminus binding (GO:0008022)|protein homodimerization activity (GO:0042803)	p.D696G(1)|p.D1022G(1)		NS(1)|breast(5)|central_nervous_system(8)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(22)|lung(43)|ovary(7)|prostate(1)|skin(4)|upper_aerodigestive_tract(3)	105	Lung NSC(77;0.103)		LUSC - Lung squamous cell carcinoma(124;0.0485)|Lung(124;0.0956)			TTCCTGGCTATCTTCCAGAAA	0.368																																																	2	Substitution - Missense(2)	ovary(2)	6											114.0	111.0	112.0					6																	56497759		2203	4300	6503	56605718	SO:0001583	missense	667			M22942, M69225	CCDS4959.1, CCDS47443.1, CCDS75474.1	6p12.1	2013-01-10	2004-06-25	2004-07-01	ENSG00000151914	ENSG00000151914		"""EF-hand domain containing"""	1090	protein-coding gene	gene with protein product		113810	"""bullous pemphigoid antigen 1, 230/240kDa"""	BPAG1		2461961, 2276744	Standard	NM_001144770		Approved	BP240, KIAA0728, FLJ21489, FLJ13425, FLJ32235, FLJ30627, CATX-15, BPA, MACF2	uc021zba.2	Q03001	OTTHUMG00000014913	ENST00000361203.3:c.3065A>G	6.37:g.56497759T>C	ENSP00000354508:p.Asp1022Gly	Somatic		Capture	Illumina HiSeq	Phase_I	56605718	B7Z3H1|O94833|Q12825|Q13266|Q13267|Q13775|Q5TBT0|Q5TBT2|Q5TF23|Q5TF24|Q8N1T8|Q8N8J3|Q8WXK8|Q8WXK9|Q96AK9|Q96DQ5|Q96J76|Q96QT5|Q9H555|Q9UGD7|Q9UGD8|Q9UN10	Missense_Mutation	SNP	ENST00000361203.3	37		.	.	.	.	.	.	.	.	.	.	T	22.9	4.356114	0.82243	.	.	ENSG00000151914	ENST00000244364;ENST00000370754;ENST00000370769;ENST00000421834;ENST00000446842;ENST00000312431;ENST00000370788;ENST00000361203;ENST00000439203;ENST00000520645;ENST00000370765;ENST00000518935	T;T;T;T;T;T;T;T;T;T;T;T	0.34275	1.37;1.37;1.37;1.37;1.37;1.37;1.37;1.37;1.37;1.37;1.37;1.37	5.73	5.73	0.89815	.	0.000000	0.56097	D	0.000028	T	0.58380	0.2118	M	0.84683	2.71	0.34405	D	0.695705	D;D;D;P;D;D;D;B	0.76494	0.966;0.997;0.966;0.901;0.992;0.999;0.966;0.038	P;D;P;P;D;D;P;B	0.78314	0.505;0.989;0.505;0.49;0.953;0.991;0.505;0.054	T	0.66582	-0.5887	9	0.72032	D	0.01	.	16.3123	0.82883	0.0:0.0:0.0:1.0	.	1022;1022;1200;696;696;696;1022;696	Q5TBT1;E7ERU2;E9PEB9;Q6P0N6;Q03001-3;Q03001-9;Q03001;Q03001-8	.;.;.;.;.;.;DYST_HUMAN;.	G	696;1200;1022;1022;696;1022;1022;1022;696;1062;696;696	ENSP00000244364:D696G;ENSP00000359790:D1200G;ENSP00000359805:D1022G;ENSP00000400883:D1022G;ENSP00000393645:D696G;ENSP00000307959:D1022G;ENSP00000359824:D1022G;ENSP00000354508:D1022G;ENSP00000404924:D696G;ENSP00000431030:D1062G;ENSP00000359801:D696G;ENSP00000431003:D696G	ENSP00000244364:D696G	D	-	2	0	DST	56605718	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.880000	0.69698	2.308000	0.77769	0.533000	0.62120	GAT		DST-004	NOVEL	not_organism_supported|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000041021.3	NM_001723	
IFNGR1	3459	hgsc.bcm.edu	37	6	137519296	137519296	+	Missense_Mutation	SNP	C	C	T	rs146424575		TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr6:137519296C>T	ENST00000367739.4	-	7	1463	c.1342G>A	c.(1342-1344)Gta>Ata	p.V448I	IFNGR1_ENST00000543628.1_Missense_Mutation_p.V420I	NM_000416.2	NP_000407.1	P15260	INGR1_HUMAN	interferon gamma receptor 1	448					cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to virus (GO:0009615)|signal transduction (GO:0007165)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|vesicle (GO:0031982)	interferon-gamma receptor activity (GO:0004906)			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	GCTTTTATTACGGTTATGAGC	0.408													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18768	0.0		0.0	False		,,,				2504	0.0																0			6						C	ILE/VAL	1,4405	2.1+/-5.4	0,1,2202	152.0	153.0	153.0		1342	0.5	0.0	6	dbSNP_134	153	0,8600		0,0,4300	no	missense	IFNGR1	NM_000416.2	29	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	448/490	137519296	1,13005	2203	4300	6503	137560989	SO:0001583	missense	3459				CCDS5185.1	6q23-q24	2014-09-17			ENSG00000027697	ENSG00000027697		"""Interferons"", ""CD molecules"""	5439	protein-coding gene	gene with protein product		107470		IFNGR			Standard	NM_000416		Approved	CD119	uc003qho.2	P15260	OTTHUMG00000015656	ENST00000367739.4:c.1342G>A	6.37:g.137519296C>T	ENSP00000356713:p.Val448Ile	Somatic		Capture	Illumina HiSeq	Phase_I	137560989	B4DFT7|E1P587|Q53Y96	Missense_Mutation	SNP	ENST00000367739.4	37	CCDS5185.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	9.961	1.222866	0.22457	2.27E-4	0.0	ENSG00000027697	ENST00000367739;ENST00000543628	T;T	0.73047	-0.71;-0.55	6.08	0.475	0.16774	.	1.946140	0.02591	N	0.100007	T	0.32071	0.0817	L	0.27053	0.805	0.09310	N	1	P;P	0.43607	0.812;0.539	B;B	0.30495	0.116;0.016	T	0.26985	-1.0087	10	0.19147	T	0.46	0.1609	11.7671	0.51937	0.0:0.5475:0.3284:0.1241	.	420;448	F5H5M7;P15260	.;INGR1_HUMAN	I	448;420	ENSP00000356713:V448I;ENSP00000443282:V420I	ENSP00000356713:V448I	V	-	1	0	IFNGR1	137560989	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	0.365000	0.20348	0.395000	0.25257	-0.340000	0.08031	GTA		IFNGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042401.1		
ARID1B	57492	hgsc.bcm.edu	37	6	157511248	157511248	+	Missense_Mutation	SNP	C	C	T			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr6:157511248C>T	ENST00000350026.5	+	14	3728	c.3727C>T	c.(3727-3729)Cca>Tca	p.P1243S	ARID1B_ENST00000346085.5_Missense_Mutation_p.P1256S|ARID1B_ENST00000367148.1_Missense_Mutation_p.P1296S|ARID1B_ENST00000275248.4_Missense_Mutation_p.P1238S	NM_017519.2	NP_059989.2	Q8NFD5	ARI1B_HUMAN	AT rich interactive domain 1B (SWI1-like)	1243					chromatin-mediated maintenance of transcription (GO:0048096)|nervous system development (GO:0007399)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|SWI/SNF complex (GO:0016514)	DNA binding (GO:0003677)|transcription coactivator activity (GO:0003713)			NS(2)|breast(5)|central_nervous_system(4)|endometrium(12)|kidney(4)|large_intestine(11)|lung(30)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|urinary_tract(3)	81		Breast(66;0.000162)|Ovarian(120;0.0265)		OV - Ovarian serous cystadenocarcinoma(65;3.19e-17)|BRCA - Breast invasive adenocarcinoma(81;1.01e-05)		CTCCATGACTCCAAACGCCCC	0.522																																																	0			6											131.0	129.0	130.0					6																	157511248		2203	4296	6499	157552940	SO:0001583	missense	57492			AF521671	CCDS5251.1, CCDS5251.2, CCDS55072.1	6q25.3	2014-09-17			ENSG00000049618	ENSG00000049618		"""-"""	18040	protein-coding gene	gene with protein product		614556					Standard	NM_017519		Approved	KIAA1235, ELD/OSA1, p250R, BAF250b, DAN15, 6A3-5	uc003qqo.3	Q8NFD5	OTTHUMG00000015890	ENST00000350026.5:c.3727C>T	6.37:g.157511248C>T	ENSP00000055163:p.Pro1243Ser	Somatic		Capture	Illumina HiSeq	Phase_I	157552940	Q5JRD1|Q5VYC4|Q8IZY8|Q8TEV0|Q8TF02|Q99491|Q9ULI5	Missense_Mutation	SNP	ENST00000350026.5	37	CCDS5251.2	.	.	.	.	.	.	.	.	.	.	C	21.3	4.123253	0.77436	.	.	ENSG00000049618	ENST00000346085;ENST00000350026;ENST00000367148;ENST00000275248;ENST00000414678	T;T;T;T;T	0.02421	4.51;4.44;4.58;4.55;4.3	5.95	5.95	0.96441	.	0.118709	0.56097	D	0.000021	T	0.09291	0.0229	L	0.54323	1.7	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.87578	0.996;0.998;0.998	T	0.05517	-1.0880	10	0.66056	D	0.02	.	20.3932	0.98965	0.0:1.0:0.0:0.0	.	1243;1256;1238	Q8NFD5;Q8NFD5-2;G3XAA0	ARI1B_HUMAN;.;.	S	1256;1243;1296;1238;765	ENSP00000344546:P1256S;ENSP00000055163:P1243S;ENSP00000356116:P1296S;ENSP00000275248:P1238S;ENSP00000412835:P765S	ENSP00000275248:P1238S	P	+	1	0	ARID1B	157552940	1.000000	0.71417	0.770000	0.31555	0.973000	0.67179	7.487000	0.81328	2.824000	0.97209	0.655000	0.94253	CCA		ARID1B-009	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000372723.1	NM_020732	
LPA	4018	hgsc.bcm.edu	37	6	161020555	161020555	+	Silent	SNP	C	C	A			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr6:161020555C>A	ENST00000316300.5	-	20	3308	c.3264G>T	c.(3262-3264)cgG>cgT	p.R1088R	LPA_ENST00000447678.1_Silent_p.R1088R			P08519	APOA_HUMAN	lipoprotein, Lp(a)	3596	Kringle 10. {ECO:0000255|PROSITE- ProRule:PRU00121}.				blood circulation (GO:0008015)|lipid metabolic process (GO:0006629)|lipid transport (GO:0006869)|lipoprotein metabolic process (GO:0042157)|negative regulation of endopeptidase activity (GO:0010951)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)	extracellular region (GO:0005576)|plasma lipoprotein particle (GO:0034358)	apolipoprotein binding (GO:0034185)|endopeptidase inhibitor activity (GO:0004866)|fibronectin binding (GO:0001968)|heparin binding (GO:0008201)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(16)|lung(54)|ovary(4)|pancreas(1)|prostate(2)|skin(10)|stomach(1)|urinary_tract(1)	107		Breast(66;0.000496)|Ovarian(120;0.0303)|Prostate(117;0.0965)		OV - Ovarian serous cystadenocarcinoma(65;2.5e-17)|BRCA - Breast invasive adenocarcinoma(81;6.48e-06)	Aminocaproic Acid(DB00513)	TTTCTGGGGTCCGACTATGCT	0.468																																																	0			6											312.0	338.0	329.0					6																	161020555		2201	4300	6501	160940545	SO:0001819	synonymous_variant	4018			X06290	CCDS43523.1	6q25-q26	2012-10-02			ENSG00000198670	ENSG00000198670			6667	protein-coding gene	gene with protein product		152200		LP		3670400	Standard	NM_005577		Approved		uc003qtl.3	P08519	OTTHUMG00000015956	ENST00000316300.5:c.3264G>T	6.37:g.161020555C>A		Somatic		Capture	Illumina HiSeq	Phase_I	160940545	Q5VTD7|Q9UD88	Silent	SNP	ENST00000316300.5	37	CCDS43523.1																																																																																				LPA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042957.1	NM_005577	
PDE10A	10846	hgsc.bcm.edu	37	6	165756880	165756880	+	Splice_Site	SNP	C	C	A			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr6:165756880C>A	ENST00000366882.1	-	20	2221	c.2067G>T	c.(2065-2067)gaG>gaT	p.E689D	PDE10A_ENST00000539869.2_Splice_Site_p.E699D|PDE10A_ENST00000354448.4_Splice_Site_p.E689D			Q9Y233	PDE10_HUMAN	phosphodiesterase 10A	689					blood coagulation (GO:0007596)|cAMP catabolic process (GO:0006198)|cGMP catabolic process (GO:0046069)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of protein kinase A signaling (GO:0010738)|signal transduction (GO:0007165)	cytosol (GO:0005829)	3',5'-cyclic-GMP phosphodiesterase activity (GO:0047555)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|cAMP binding (GO:0030552)|cGMP binding (GO:0030553)|cGMP-stimulated cyclic-nucleotide phosphodiesterase activity (GO:0004118)|metal ion binding (GO:0046872)			breast(4)|endometrium(5)|kidney(1)|large_intestine(13)|liver(1)|lung(39)|ovary(3)|skin(4)|upper_aerodigestive_tract(1)	71		Breast(66;0.000425)|Prostate(117;0.104)|Ovarian(120;0.221)		OV - Ovarian serous cystadenocarcinoma(33;1.5e-17)|BRCA - Breast invasive adenocarcinoma(81;1.8e-06)|GBM - Glioblastoma multiforme(31;1.92e-05)	Caffeine(DB00201)|Dipyridamole(DB00975)|Papaverine(DB01113)|Tofisopam(DB08811)|Triflusal(DB08814)	AAGGACATACCTCAGCCCAGA	0.358																																					Esophageal Squamous(22;308 615 5753 12038 40624)												0			6											104.0	100.0	102.0					6																	165756880		2203	4300	6503	165676870	SO:0001630	splice_region_variant	10846			AB020593	CCDS47513.1	6q26	2008-03-18			ENSG00000112541	ENSG00000112541	3.1.4.17	"""Phosphodiesterases"""	8772	protein-coding gene	gene with protein product		610652				10373451	Standard	NM_001130690		Approved		uc003quo.3	Q9Y233	OTTHUMG00000015986	ENST00000366882.1:c.2067+1G>T	6.37:g.165756880C>A		Somatic		Capture	Illumina HiSeq	Phase_I	165676870	Q6FHX1|Q9HCP9|Q9NTV4|Q9ULW9|Q9Y5T1	Missense_Mutation	SNP	ENST00000366882.1	37		.	.	.	.	.	.	.	.	.	.	C	23.0	4.360100	0.82353	.	.	ENSG00000112541	ENST00000366882;ENST00000539869;ENST00000343842;ENST00000354448;ENST00000392126	T;T	0.76968	-1.06;-1.06	5.67	5.67	0.87782	5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.000000	0.85682	D	0.000000	T	0.81898	0.4920	L	0.46157	1.445	0.80722	D	1	D;B	0.58970	0.984;0.416	D;B	0.70487	0.969;0.099	T	0.79045	-0.1964	9	.	.	.	.	19.3597	0.94432	0.0:1.0:0.0:0.0	.	699;689	Q9ULW9;Q9Y233	.;PDE10_HUMAN	D	689;717;699;689;688	ENSP00000355847:E689D;ENSP00000346435:E689D	.	E	-	3	2	PDE10A	165676870	1.000000	0.71417	1.000000	0.80357	0.975000	0.68041	7.105000	0.77031	2.671000	0.90904	0.585000	0.79938	GAG		PDE10A-001	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000043031.1		Missense_Mutation
Unknown	0	hgsc.bcm.edu	37	Unknown	0	0	+	IGR	SNP	G	G	C			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	G	G					Unknown	Invalid:failed_liftOver	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chrUnknown:0G>C								None (None upstream) : None (None downstream)																								0																																																	0			17																																								263640	SO:0001628	intergenic_variant	400566																															Unknown.37:g.0G>C		Somatic		Capture	Illumina HiSeq	Phase_I	263640		Missense_Mutation	SNP		37																																																																																				0								
PLD2	5338	hgsc.bcm.edu	37	17	4722835	4722835	+	Missense_Mutation	SNP	A	A	G			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr17:4722835A>G	ENST00000263088.6	+	23	2551	c.2420A>G	c.(2419-2421)cAg>cGg	p.Q807R	PLD2_ENST00000572940.1_Missense_Mutation_p.Q807R	NM_001243108.1|NM_002663.4	NP_001230037.1|NP_002654.3	O14939	PLD2_HUMAN	phospholipase D2	807			Q -> E (in a breast cancer sample; somatic mutation). {ECO:0000269|PubMed:16959974}.		cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G-protein coupled receptor internalization (GO:0002031)|glycerophospholipid biosynthetic process (GO:0046474)|innate immune response (GO:0045087)|lipid catabolic process (GO:0016042)|phosphatidic acid biosynthetic process (GO:0006654)|phosphatidylglycerol biosynthetic process (GO:0006655)|phospholipid metabolic process (GO:0006644)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	brush border membrane (GO:0031526)|endoplasmic reticulum membrane (GO:0005789)|plasma membrane (GO:0005886)	N-acylphosphatidylethanolamine-specific phospholipase D activity (GO:0070290)|phosphatidylinositol binding (GO:0035091)|phospholipase D activity (GO:0004630)			autonomic_ganglia(1)|breast(4)|central_nervous_system(2)|cervix(1)|endometrium(3)|large_intestine(3)|lung(10)|ovary(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)	31					Choline(DB00122)	GCAGAGTATCAGGCGGGCAGG	0.612																																																	0			17											110.0	80.0	90.0					17																	4722835		2203	4300	6503	4669801	SO:0001583	missense	5338			AF035483	CCDS11057.1, CCDS58507.1	17p13.3	2008-04-14			ENSG00000129219	ENSG00000129219	3.1.4.4		9068	protein-coding gene	gene with protein product	"""choline phosphatase 2"""	602384				9858823, 9582313	Standard	NM_002663		Approved		uc002fzc.3	O14939	OTTHUMG00000090779	ENST00000263088.6:c.2420A>G	17.37:g.4722835A>G	ENSP00000263088:p.Gln807Arg	Somatic		Capture	Illumina HiSeq	Phase_I	4669801	I3L2C9|O43540|O43579|O43580|Q6PGR0|Q96BY3	Missense_Mutation	SNP	ENST00000263088.6	37	CCDS11057.1	.	.	.	.	.	.	.	.	.	.	A	16.34	3.095432	0.56075	.	.	ENSG00000129219	ENST00000263088	T	0.07327	3.2	4.41	4.41	0.53225	.	0.000000	0.85682	D	0.000000	T	0.09024	0.0223	L	0.47016	1.485	0.58432	D	0.999997	B;B	0.31790	0.34;0.034	B;B	0.33799	0.17;0.032	T	0.24404	-1.0161	10	0.22109	T	0.4	-24.4379	11.6184	0.51102	1.0:0.0:0.0:0.0	.	807;807	O14939-2;O14939	.;PLD2_HUMAN	R	807	ENSP00000263088:Q807R	ENSP00000263088:Q807R	Q	+	2	0	PLD2	4669801	1.000000	0.71417	1.000000	0.80357	0.875000	0.50365	6.473000	0.73572	1.859000	0.53934	0.460000	0.39030	CAG		PLD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207561.3	NM_002663	
TP53	7157	hgsc.bcm.edu	37	17	7576915	7576915	+	Missense_Mutation	SNP	T	T	C			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr17:7576915T>C	ENST00000269305.4	-	9	1120	c.931A>G	c.(931-933)Aac>Gac	p.N311D	TP53_ENST00000359597.4_Missense_Mutation_p.N311D|TP53_ENST00000413465.2_Intron|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.N311D|TP53_ENST00000420246.2_Missense_Mutation_p.N311D|TP53_ENST00000445888.2_Missense_Mutation_p.N311D	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	311	Interaction with CARM1.|Interaction with HIPK1. {ECO:0000250}.		N -> H (in sporadic cancers; somatic mutation).|N -> K (in a sporadic cancer; somatic mutation).|N -> S (in a sporadic cancer; somatic mutation; dbSNP:rs56184981).|N -> T (in sporadic cancers; 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.0?(8)|p.?(2)|p.N311H(1)|p.A307fs*34(1)|p.L308fs*15(1)|p.L308fs*31(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)	GAGCTGGTGTTGTTGGGCAGT	0.483		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"""	14	Whole gene deletion(8)|Deletion - Frameshift(3)|Unknown(2)|Substitution - Missense(1)	bone(4)|upper_aerodigestive_tract(3)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|stomach(1)|lung(1)|breast(1)	17											134.0	122.0	126.0					17																	7576915		2203	4300	6503	7517640	SO:0001583	missense	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.931A>G	17.37:g.7576915T>C	ENSP00000269305:p.Asn311Asp	Somatic		Capture	Illumina HiSeq	Phase_I	7517640	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	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	T	5.436	0.265511	0.10294	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99730	-5.73;-5.45;-5.73;-5.74;-5.45;-6.56	5.16	-0.0565	0.13805	.	3.998070	0.00766	N	0.001171	D	0.98454	0.9485	L	0.39245	1.2	0.09310	N	1	B;B;B;B	0.20988	0.0;0.05;0.0;0.0	B;B;B;B	0.20767	0.003;0.031;0.0;0.001	D	0.99826	1.1050	10	0.33141	T	0.24	-0.4377	3.5917	0.07991	0.166:0.3296:0.0:0.5044	.	311;311;311;311	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	D	311;311;311;311;311;300;179	ENSP00000352610:N311D;ENSP00000269305:N311D;ENSP00000398846:N311D;ENSP00000391127:N311D;ENSP00000391478:N311D;ENSP00000425104:N179D	ENSP00000269305:N311D	N	-	1	0	TP53	7517640	0.000000	0.05858	0.000000	0.03702	0.183000	0.23260	-0.606000	0.05654	-0.208000	0.10171	0.459000	0.35465	AAC		TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
TP53	7157	hgsc.bcm.edu	37	17	7579410	7579410	+	Missense_Mutation	SNP	G	G	C			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr17:7579410G>C	ENST00000269305.4	-	4	466	c.277C>G	c.(277-279)Ctg>Gtg	p.L93V	TP53_ENST00000359597.4_Missense_Mutation_p.L93V|TP53_ENST00000413465.2_Missense_Mutation_p.L93V|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Missense_Mutation_p.L93V|TP53_ENST00000420246.2_Missense_Mutation_p.L93V|TP53_ENST00000445888.2_Missense_Mutation_p.L93V	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	93	Interaction with WWOX.		L -> M (in a sporadic cancer; somatic mutation).|L -> P (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.0?(8)|p.L93fs*30(4)|p.G59fs*23(3)|p.V73fs*9(1)|p.A88fs*52(1)|p.L93M(1)|p.W91fs*13(1)|p.P87fs*54(1)|p.P13fs*18(1)|p.S33fs*23(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)	GAAGATGACAGGGGCCAGGAG	0.627		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"""	22	Deletion - Frameshift(13)|Whole gene deletion(8)|Substitution - Missense(1)	breast(6)|lung(4)|bone(4)|upper_aerodigestive_tract(3)|central_nervous_system(2)|stomach(1)|haematopoietic_and_lymphoid_tissue(1)|liver(1)	17											45.0	50.0	48.0					17																	7579410		2203	4300	6503	7520135	SO:0001583	missense	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.277C>G	17.37:g.7579410G>C	ENSP00000269305:p.Leu93Val	Somatic		Capture	Illumina HiSeq	Phase_I	7520135	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	Missense_Mutation	SNP	ENST00000269305.4	37	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	13.62	2.290267	0.40494	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000508793;ENST00000503591	D;D;D;D;D;D;D;D	0.99388	-5.3;-5.81;-5.53;-5.81;-5.81;-5.53;-4.16;-2.22	4.41	3.36	0.38483	.	0.210998	0.39687	N	0.001299	D	0.98169	0.9395	L	0.27053	0.805	0.31473	N	0.668074	P;D;B;B;B;B;B	0.76494	0.861;0.999;0.072;0.032;0.087;0.161;0.052	B;D;B;B;B;B;B	0.65010	0.277;0.931;0.129;0.014;0.082;0.082;0.013	D	0.95613	0.8674	10	0.28530	T	0.3	-16.6904	9.0956	0.36636	0.0:0.0:0.7815:0.2185	.	54;93;93;93;93;93;93	B4E095;E7EMR6;P04637-2;P04637-3;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	V	93	ENSP00000410739:L93V;ENSP00000352610:L93V;ENSP00000269305:L93V;ENSP00000398846:L93V;ENSP00000391127:L93V;ENSP00000391478:L93V;ENSP00000424104:L93V;ENSP00000426252:L93V	ENSP00000269305:L93V	L	-	1	2	TP53	7520135	1.000000	0.71417	1.000000	0.80357	0.774000	0.43823	1.247000	0.32815	2.450000	0.82876	0.561000	0.74099	CTG		TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
RHBDL3	162494	hgsc.bcm.edu	37	17	30621389	30621389	+	Missense_Mutation	SNP	A	A	G			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr17:30621389A>G	ENST00000269051.4	+	5	610	c.596A>G	c.(595-597)aAc>aGc	p.N199S	RHBDL3_ENST00000538145.1_Missense_Mutation_p.N191S|RHBDL3_ENST00000536287.1_Missense_Mutation_p.N101S	NM_138328.2	NP_612201.1	P58872	RHBL3_HUMAN	rhomboid, veinlet-like 3 (Drosophila)	199						integral component of membrane (GO:0016021)	calcium ion binding (GO:0005509)|serine-type endopeptidase activity (GO:0004252)			breast(1)|endometrium(1)|large_intestine(5)|lung(5)|ovary(1)|prostate(2)|skin(1)	16		Breast(31;0.116)|Ovarian(249;0.182)				TACTTGAAGAACTCCCTGGTT	0.488																																																	0			17											191.0	155.0	167.0					17																	30621389		2203	4300	6503	27645502	SO:0001583	missense	162494			AJ313480	CCDS32613.1	17q11.2	2013-01-10				ENSG00000141314		"""EF-hand domain containing"""	16502	protein-coding gene	gene with protein product			"""rhomboid, veinlet-like 4 (Drosophila)"""	RHBDL4		11900977	Standard	XM_006721733		Approved	VRHO	uc002hhe.1	P58872		ENST00000269051.4:c.596A>G	17.37:g.30621389A>G	ENSP00000269051:p.Asn199Ser	Somatic		Capture	Illumina HiSeq	Phase_I	27645502	A6NMH1|Q495Y4|Q495Y5|Q495Y6	Missense_Mutation	SNP	ENST00000269051.4	37	CCDS32613.1	.	.	.	.	.	.	.	.	.	.	A	7.065	0.567181	0.13560	.	.	ENSG00000141314	ENST00000431505;ENST00000269051;ENST00000538145;ENST00000536287	T;T;T;T	0.10860	2.83;2.83;2.83;2.83	6.17	6.17	0.99709	.	0.085621	0.85682	D	0.000000	T	0.03348	0.0097	N	0.01493	-0.835	0.46586	D	0.99911	P;B;B	0.38020	0.615;0.002;0.002	B;B;B	0.29267	0.1;0.004;0.004	T	0.43310	-0.9399	10	0.02654	T	1	-40.8496	16.8222	0.85835	1.0:0.0:0.0:0.0	.	199;191;199	E9PD28;Q495Y5;P58872	.;.;RHBL3_HUMAN	S	199;199;191;101	ENSP00000394849:N199S;ENSP00000269051:N199S;ENSP00000442092:N191S;ENSP00000466508:N101S	ENSP00000269051:N199S	N	+	2	0	RHBDL3	27645502	1.000000	0.71417	0.999000	0.59377	0.985000	0.73830	7.174000	0.77620	2.371000	0.80710	0.533000	0.62120	AAC		RHBDL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000447120.1	NM_138328	
KRTAP4-8	728224	hgsc.bcm.edu	37	17	39254054	39254054	+	Missense_Mutation	SNP	A	A	T	rs76270529		TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr17:39254054A>T	ENST00000333822.4	-	1	339	c.283T>A	c.(283-285)Tgc>Agc	p.C95S		NM_031960.2	NP_114166.1	Q9BYQ9	KRA48_HUMAN	keratin associated protein 4-8	95	25 X 5 AA repeats of C-C-[IKRQVHEC]- [SPRT]-[STCVQPR].				aging (GO:0007568)|hair cycle (GO:0042633)	keratin filament (GO:0045095)		p.C95S(4)		endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(1)|prostate(1)	11						ctggagatgcagcagcTAGGG	0.677																																																	4	Substitution - Missense(4)	endometrium(3)|kidney(1)	17											7.0	11.0	10.0					17																	39254054		685	1582	2267	36507580	SO:0001583	missense	728224			AJ406940	CCDS45674.1	17q21.2	2013-06-25			ENSG00000204880	ENSG00000204880		"""Keratin associated proteins"""	17230	protein-coding gene	gene with protein product						11279113	Standard	NM_031960		Approved	KAP4.8	uc010wfo.2	Q9BYQ9	OTTHUMG00000133580	ENST00000333822.4:c.283T>A	17.37:g.39254054A>T	ENSP00000328444:p.Cys95Ser	Somatic		Capture	Illumina HiSeq	Phase_I	36507580	A8MSH3	Missense_Mutation	SNP	ENST00000333822.4	37	CCDS45674.1	.	.	.	.	.	.	.	.	.	.	.	15.18	2.755714	0.49362	.	.	ENSG00000204880	ENST00000333822;ENST00000332991	T	0.02280	4.36	3.11	2.01	0.26516	.	0.000000	0.52532	U	0.000067	T	0.04497	0.0123	M	0.83223	2.63	0.25182	N	0.99019	B	0.21606	0.058	B	0.27887	0.084	T	0.21793	-1.0235	10	0.54805	T	0.06	.	6.3859	0.21559	0.8715:0.0:0.1285:0.0	.	95	Q9BYQ9	KRA48_HUMAN	S	95;80	ENSP00000328444:C95S	ENSP00000414561:C80S	C	-	1	0	KRTAP4-8	36507580	0.999000	0.42202	0.393000	0.26258	0.649000	0.38597	3.122000	0.50446	0.404000	0.25506	0.374000	0.22700	TGC		KRTAP4-8-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257684.1	NM_031960	
CUEDC1	404093	hgsc.bcm.edu	37	17	55945533	55945533	+	Nonsense_Mutation	SNP	T	T	A			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr17:55945533T>A	ENST00000577830.1	-	8	1425	c.1012A>T	c.(1012-1014)Aaa>Taa	p.K338*	CUEDC1_ENST00000407144.2_Nonsense_Mutation_p.K338*|CUEDC1_ENST00000578357.1_5'UTR|CUEDC1_ENST00000360238.2_Nonsense_Mutation_p.K338*|CUEDC1_ENST00000577840.1_Nonsense_Mutation_p.K201*	NM_001271875.1	NP_001258804.1	Q9NWM3	CUED1_HUMAN	CUE domain containing 1	338										endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|skin(3)	12						AACAAGTGTTTCCTCTTTGAC	0.552																																																	0			17											218.0	154.0	176.0					17																	55945533		2203	4300	6503	53300532	SO:0001587	stop_gained	404093			AK000746	CCDS11599.1	17q23.2	2004-03-16				ENSG00000180891			31350	protein-coding gene	gene with protein product							Standard	NM_001271875		Approved		uc002ive.2	Q9NWM3		ENST00000577830.1:c.1012A>T	17.37:g.55945533T>A	ENSP00000462717:p.Lys338*	Somatic		Capture	Illumina HiSeq	Phase_I	53300532	D3DTZ2|Q9NWD0	Nonsense_Mutation	SNP	ENST00000577830.1	37	CCDS11599.1	.	.	.	.	.	.	.	.	.	.	T	42	9.768773	0.99259	.	.	ENSG00000180891	ENST00000407144;ENST00000360238	.	.	.	4.76	4.76	0.60689	.	0.108957	0.64402	D	0.000007	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-7.7125	14.2695	0.66143	0.0:0.0:0.0:1.0	.	.	.	.	X	338	.	ENSP00000353373:K338X	K	-	1	0	CUEDC1	53300532	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	5.611000	0.67674	1.779000	0.52309	0.379000	0.24179	AAA		CUEDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443305.1	NM_017949	
MPO	4353	hgsc.bcm.edu	37	17	56349193	56349193	+	Missense_Mutation	SNP	C	C	T			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr17:56349193C>T	ENST00000225275.3	-	11	2029	c.1853G>A	c.(1852-1854)gGc>gAc	p.G618D	MPO_ENST00000340482.3_Missense_Mutation_p.G650D	NM_000250.1	NP_000241.1	P05164	PERM_HUMAN	myeloperoxidase	618					aging (GO:0007568)|defense response (GO:0006952)|defense response to fungus (GO:0050832)|hydrogen peroxide catabolic process (GO:0042744)|hypochlorous acid biosynthetic process (GO:0002149)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of apoptotic process (GO:0043066)|negative regulation of growth of symbiont in host (GO:0044130)|oxidation-reduction process (GO:0055114)|removal of superoxide radicals (GO:0019430)|respiratory burst involved in defense response (GO:0002679)|response to food (GO:0032094)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|response to yeast (GO:0001878)	azurophil granule (GO:0042582)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|secretory granule (GO:0030141)	chromatin binding (GO:0003682)|heme binding (GO:0020037)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Aminosalicylic Acid(DB00233)|Bivalirudin(DB00006)|Calcipotriol(DB02300)|Carboplatin(DB00958)|Cefaclor(DB00833)|Cefdinir(DB00535)|Cisplatin(DB00515)|Cysteamine(DB00847)|Dapsone(DB00250)|Enoxaparin(DB01225)|Human Serum Albumin(DB00062)|L-Carnitine(DB00583)|Melatonin(DB01065)|Mesalazine(DB00244)|Nabumetone(DB00461)|Octreotide(DB00104)|Oxaliplatin(DB00526)|Propylthiouracil(DB00550)|Ticlopidine(DB00208)|Tolmetin(DB00500)	CAGCACCGTGCCCAGCTGGCC	0.612																																																	0			17											111.0	84.0	93.0					17																	56349193		2203	4300	6503	53704192	SO:0001583	missense	4353				CCDS11604.1	17q21.3-q23	2014-09-17				ENSG00000005381	1.11.1.7		7218	protein-coding gene	gene with protein product		606989					Standard	NM_000250		Approved		uc002ivu.1	P05164		ENST00000225275.3:c.1853G>A	17.37:g.56349193C>T	ENSP00000225275:p.Gly618Asp	Somatic		Capture	Illumina HiSeq	Phase_I	53704192	A1L4B8|Q14862|Q4PJH5|Q9UCL7	Missense_Mutation	SNP	ENST00000225275.3	37	CCDS11604.1	.	.	.	.	.	.	.	.	.	.	C	11.01	1.512711	0.27123	.	.	ENSG00000005381	ENST00000340482;ENST00000225275	T;T	0.68181	-0.31;-0.31	5.16	-2.17	0.07059	.	0.534653	0.20234	N	0.096439	T	0.66528	0.2798	L	0.49778	1.585	0.09310	N	1	P	0.50528	0.936	P	0.52514	0.701	T	0.65500	-0.6153	10	0.42905	T	0.14	-11.8213	14.2148	0.65786	0.0:0.31:0.6191:0.071	.	618	P05164	PERM_HUMAN	D	650;618	ENSP00000344419:G650D;ENSP00000225275:G618D	ENSP00000225275:G618D	G	-	2	0	MPO	53704192	0.000000	0.05858	0.978000	0.43139	0.110000	0.19582	0.422000	0.21296	0.169000	0.19679	0.563000	0.77884	GGC		MPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443971.1		
GRB2	2885	hgsc.bcm.edu	37	17	73389685	73389685	+	Missense_Mutation	SNP	A	A	G			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr17:73389685A>G	ENST00000392562.1	-	2	807	c.25T>C	c.(25-27)Ttc>Ctc	p.F9L	GRB2_ENST00000392563.1_Missense_Mutation_p.F9L|GRB2_ENST00000578961.1_Missense_Mutation_p.F9L|GRB2_ENST00000392564.1_Missense_Mutation_p.F9L|GRB2_ENST00000316804.5_Missense_Mutation_p.F9L|RP11-16C1.1_ENST00000578226.1_RNA|GRB2_ENST00000316615.5_Missense_Mutation_p.F9L			P62993	GRB2_HUMAN	growth factor receptor-bound protein 2	9	SH3 1. {ECO:0000255|PROSITE- ProRule:PRU00192}.				aging (GO:0007568)|anatomical structure formation involved in morphogenesis (GO:0048646)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|cell-cell signaling (GO:0007267)|cellular response to ionizing radiation (GO:0071479)|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)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|neurotrophin TRK receptor signaling pathway (GO:0048011)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|receptor internalization (GO:0031623)|regulation of MAPK cascade (GO:0043408)|signal transduction in response to DNA damage (GO:0042770)|T cell costimulation (GO:0031295)|viral process (GO:0016032)	cell-cell junction (GO:0005911)|COP9 signalosome (GO:0008180)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|Grb2-EGFR complex (GO:0070436)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	ephrin receptor binding (GO:0046875)|epidermal growth factor receptor binding (GO:0005154)|identical protein binding (GO:0042802)|insulin receptor substrate binding (GO:0043560)|neurotrophin TRKA receptor binding (GO:0005168)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)			breast(2)|kidney(1)|large_intestine(3)|lung(7)|ovary(3)|skin(1)	17	all_cancers(13;5.44e-09)|all_epithelial(9;1.1e-09)|Breast(9;1.85e-09)|all_lung(278;0.222)		all cancers(21;1.09e-07)|Epithelial(20;1.23e-06)|Lung(188;0.185)		Pegademase bovine(DB00061)	GTAGCTTTGAAGTCATATTTG	0.557																																																	0			17											298.0	237.0	258.0					17																	73389685		2203	4300	6503	70901280	SO:0001583	missense	2885				CCDS11721.1, CCDS11722.1	17q24-q25	2013-02-14			ENSG00000177885	ENSG00000177885		"""SH2 domain containing"""	4566	protein-coding gene	gene with protein product		108355					Standard	NM_002086		Approved	NCKAP2	uc002jnx.4	P62993	OTTHUMG00000134332	ENST00000392562.1:c.25T>C	17.37:g.73389685A>G	ENSP00000376345:p.Phe9Leu	Somatic		Capture	Illumina HiSeq	Phase_I	70901280	P29354|Q14450|Q63057|Q63059	Missense_Mutation	SNP	ENST00000392562.1	37	CCDS11721.1	.	.	.	.	.	.	.	.	.	.	A	36	5.756484	0.96898	.	.	ENSG00000177885	ENST00000316804;ENST00000392562;ENST00000392564;ENST00000392563;ENST00000316615	T;T;T;T;T	0.60920	0.15;0.15;0.15;0.15;0.15	5.87	5.87	0.94306	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.80576	0.4649	M	0.91717	3.235	0.80722	D	1	B;P	0.40909	0.321;0.732	B;P	0.59056	0.164;0.851	D	0.83921	0.0301	10	0.87932	D	0	-16.5535	15.942	0.79763	1.0:0.0:0.0:0.0	.	9;9	P62993-2;P62993	.;GRB2_HUMAN	L	9	ENSP00000339007:F9L;ENSP00000376345:F9L;ENSP00000376347:F9L;ENSP00000376346:F9L;ENSP00000317360:F9L	ENSP00000317360:F9L	F	-	1	0	GRB2	70901280	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.332000	0.90024	2.248000	0.74166	0.533000	0.62120	TTC		GRB2-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259476.1		
KRTAP19-5	337972	hgsc.bcm.edu	37	21	31874205	31874205	+	Silent	SNP	G	G	A	rs202202057		TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr21:31874205G>A	ENST00000334151.2	-	1	230	c.204C>T	c.(202-204)ttC>ttT	p.F68F		NM_181611.1	NP_853642.1	Q3LI72	KR195_HUMAN	keratin associated protein 19-5	68						intermediate filament (GO:0005882)				endometrium(1)|large_intestine(5)|lung(4)|pancreas(1)|prostate(1)	12						AAAATCCAGAGAATCCATATC	0.507																																																	0			21											89.0	90.0	90.0					21																	31874205		2203	4300	6503	30796076	SO:0001819	synonymous_variant	337972			AP001708	CCDS13597.1	21q22.1	2006-03-13			ENSG00000186977	ENSG00000186977		"""Keratin associated proteins"""	18940	protein-coding gene	gene with protein product						12359730	Standard	NM_181611		Approved	KAP19.5	uc011ada.2	Q3LI72	OTTHUMG00000057774	ENST00000334151.2:c.204C>T	21.37:g.31874205G>A		Somatic		Capture	Illumina HiSeq	Phase_I	30796076	A4IF22	Silent	SNP	ENST00000334151.2	37	CCDS13597.1																																																																																				KRTAP19-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128226.2		
KCNJ6	3763	hgsc.bcm.edu	37	21	39086988	39086988	+	Missense_Mutation	SNP	G	G	A			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr21:39086988G>A	ENST00000609713.1	-	3	1061	c.472C>T	c.(472-474)Cgg>Tgg	p.R158W	KCNJ6-IT1_ENST00000435001.1_RNA|KCNJ6_ENST00000288309.6_Missense_Mutation_p.R158W	NM_002240.3	NP_002231.1	P48051	KCNJ6_HUMAN	potassium inwardly-rectifying channel, subfamily J, member 6	158					potassium ion transmembrane transport (GO:0071805)|potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)	G-protein activated inward rectifier potassium channel activity (GO:0015467)|inward rectifier potassium channel activity (GO:0005242)			breast(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(9)|ovary(1)|prostate(1)|skin(3)|urinary_tract(1)	22					Halothane(DB01159)	GTGATGACCCGGTAGCCATAA	0.453																																					Pancreas(48;379 1118 2936 19024 28214)												0			21											64.0	69.0	68.0					21																	39086988		1832	4085	5917	38008858	SO:0001583	missense	3763			U24660	CCDS42927.1	21q22.1	2011-07-05			ENSG00000157542	ENSG00000157542		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Inwardly rectifying"""	6267	protein-coding gene	gene with protein product		600877		KCNJ7		7796919, 16382105	Standard	NM_002240		Approved	Kir3.2, GIRK2, KATP2, BIR1, hiGIRK2	uc002ywo.3	P48051	OTTHUMG00000086667	ENST00000609713.1:c.472C>T	21.37:g.39086988G>A	ENSP00000477437:p.Arg158Trp	Somatic		Capture	Illumina HiSeq	Phase_I	38008858	Q3MJ74|Q53WW6	Missense_Mutation	SNP	ENST00000609713.1	37	CCDS42927.1	.	.	.	.	.	.	.	.	.	.	G	18.03	3.531774	0.64972	.	.	ENSG00000157542	ENST00000400482;ENST00000288309	D;D	0.97066	-4.23;-4.23	6.03	5.14	0.70334	Potassium channel, inwardly rectifying, Kir, conserved region 2 (2);	0.000000	0.85682	D	0.000000	D	0.98836	0.9607	H	0.94698	3.57	0.58432	D	0.999998	D	0.89917	1.0	D	0.97110	1.0	D	0.99474	1.0946	10	0.87932	D	0	.	14.4932	0.67665	0.0:0.0:0.7337:0.2663	.	158	P48051	IRK6_HUMAN	W	158	ENSP00000383330:R158W;ENSP00000288309:R158W	ENSP00000288309:R158W	R	-	1	2	KCNJ6	38008858	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.054000	0.57434	1.526000	0.49068	0.655000	0.94253	CGG		KCNJ6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000194828.2	NM_002240	
ICOSLG	23308	hgsc.bcm.edu	37	21	45651316	45651316	+	Missense_Mutation	SNP	C	C	T			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr21:45651316C>T	ENST00000407780.3	-	5	836	c.709G>A	c.(709-711)Gga>Aga	p.G237R	ICOSLG_ENST00000400379.3_Missense_Mutation_p.G237R|ICOSLG_ENST00000400377.3_Missense_Mutation_p.G120R|ICOSLG_ENST00000344330.4_Missense_Mutation_p.G237R	NM_001283052.1	NP_001269981.1	O75144	ICOSL_HUMAN	inducible T-cell co-stimulator ligand	237					B cell activation (GO:0042113)|defense response (GO:0006952)|hyperosmotic response (GO:0006972)|positive regulation of activated T cell proliferation (GO:0042104)|signal transduction (GO:0007165)|T cell activation (GO:0042110)|T cell costimulation (GO:0031295)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	receptor binding (GO:0005102)			endometrium(2)|lung(1)|stomach(1)|urinary_tract(1)	5				Colorectal(79;0.0163)|READ - Rectum adenocarcinoma(84;0.0772)		TCTCTCTCTCCGATGTCATTT	0.478																																																	0			21											127.0	129.0	128.0					21																	45651316		2047	4182	6229	44475744	SO:0001583	missense	23308			AB014553	CCDS42952.1, CCDS63377.1, CCDS63379.1	21q22.3	2014-01-30		2005-01-12	ENSG00000160223	ENSG00000160223		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Endogenous ligands"""	17087	protein-coding gene	gene with protein product	"""B7-related protein 1"", ""B7 homologue 2"", ""B7 homolog 2"""	605717		ICOSL		9734811, 11007762	Standard	NM_001283050		Approved	KIAA0653, GL50, B7-H2, B7RP-1, B7H2, B7RP1, ICOS-L, CD275	uc002zee.3	O75144	OTTHUMG00000086920	ENST00000407780.3:c.709G>A	21.37:g.45651316C>T	ENSP00000384432:p.Gly237Arg	Somatic		Capture	Illumina HiSeq	Phase_I	44475744	A8MUZ1|Q9HD18|Q9NRQ1	Missense_Mutation	SNP	ENST00000407780.3	37	CCDS42952.1	.	.	.	.	.	.	.	.	.	.	C	13.62	2.293048	0.40594	.	.	ENSG00000160223	ENST00000344330;ENST00000407780;ENST00000400379;ENST00000400377	T;T;T;T	0.23348	5.23;5.24;5.01;1.91	2.28	2.28	0.28536	.	0.272603	0.26297	N	0.025186	T	0.29817	0.0745	L	0.34521	1.04	0.09310	N	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.69142	0.962;0.944;0.962	T	0.10200	-1.0640	10	0.13853	T	0.58	.	8.1675	0.31235	0.0:1.0:0.0:0.0	.	237;120;237	A0N0L8;A8MUZ1;O75144	.;.;ICOSL_HUMAN	R	237;237;237;120	ENSP00000339477:G237R;ENSP00000384432:G237R;ENSP00000383230:G237R;ENSP00000383228:G120R	ENSP00000339477:G237R	G	-	1	0	ICOSLG	44475744	0.000000	0.05858	0.009000	0.14445	0.001000	0.01503	0.058000	0.14301	1.599000	0.50093	0.655000	0.94253	GGA		ICOSLG-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000195838.1	NM_015259	
SRL	6345	hgsc.bcm.edu	37	16	4254628	4254628	+	Silent	SNP	C	C	T	rs369887184		TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr16:4254628C>T	ENST00000399609.3	-	2	81	c.69G>A	c.(67-69)acG>acA	p.T23T	SRL_ENST00000537996.1_5'UTR	NM_001098814.1	NP_001092284.1	Q86TD4	SRCA_HUMAN	sarcalumenin	482	Acidic domain, probably binds calcium. {ECO:0000250}.					sarcoplasmic reticulum (GO:0016529)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(8)|ovary(3)|skin(3)	21						TTGCATCCTCCGTCTCTTCTG	0.572																																																	0			16						C		1,3857		0,1,1928	104.0	103.0	103.0		69	-10.6	0.0	16		103	0,8280		0,0,4140	no	coding-synonymous	SRL	NM_001098814.1		0,1,6068	TT,TC,CC		0.0,0.0259,0.0082		23/474	4254628	1,12137	1929	4140	6069	4194629	SO:0001819	synonymous_variant	6345			AK056588	CCDS42113.1	16p13.3	2008-02-05				ENSG00000185739			11295	protein-coding gene	gene with protein product		604992				2762314	Standard	NM_001098814		Approved		uc002cvz.4	Q86TD4		ENST00000399609.3:c.69G>A	16.37:g.4254628C>T		Somatic		Capture	Illumina HiSeq	Phase_I	4194629		Silent	SNP	ENST00000399609.3	37	CCDS42113.1																																																																																				SRL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438087.1	XM_064152	
CIITA	4261	hgsc.bcm.edu	37	16	10971207	10971207	+	Missense_Mutation	SNP	G	G	A	rs374703179		TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr16:10971207G>A	ENST00000324288.8	+	1	153	c.20G>A	c.(19-21)cGc>cAc	p.R7H	CIITA_ENST00000537380.1_3'UTR|CIITA_ENST00000381835.5_Missense_Mutation_p.R7H|RP11-876N24.2_ENST00000572017.1_RNA|RP11-876N24.2_ENST00000573071.1_RNA	NM_000246.3	NP_000237	P33076	C2TA_HUMAN	class II, major histocompatibility complex, transactivator	7					aging (GO:0007568)|cellular response to electrical stimulus (GO:0071257)|cellular response to exogenous dsRNA (GO:0071360)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of collagen biosynthetic process (GO:0032966)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of MHC class I biosynthetic process (GO:0045345)|positive regulation of MHC class II biosynthetic process (GO:0045348)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|response to antibiotic (GO:0046677)|response to interferon-gamma (GO:0034341)|transcription, DNA-templated (GO:0006351)	cell surface (GO:0009986)|nucleoplasm (GO:0005654)|PML body (GO:0016605)	activating transcription factor binding (GO:0033613)|ATP binding (GO:0005524)|GTP binding (GO:0005525)|kinase activity (GO:0016301)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|transferase activity, transferring acyl groups (GO:0016746)			central_nervous_system(1)|large_intestine(7)|ovary(1)|skin(1)|stomach(2)	12						CTGGCTCCACGCCCTGCTGGG	0.587			T	"""FLJ27352, CD274, CD273, RALGDS, RUNDC2A, C16orf75, BCL6"""	"""PMBL, Hodgkin Lymphona, """																																			Dom	yes		16	16p13	4261	"""class II, major histocompatibility complex, transactivator"""		L	0			16						G	HIS/ARG	0,4394		0,0,2197	62.0	57.0	59.0		20	-4.7	0.0	16		59	1,8599	1.2+/-3.3	0,1,4299	no	missense	CIITA	NM_000246.3	29	0,1,6496	AA,AG,GG		0.0116,0.0,0.0077	benign	7/1131	10971207	1,12993	2197	4300	6497	10878708	SO:0001583	missense	4261			U18259	CCDS10544.1, CCDS66943.1, CCDS73826.1	16p13	2014-09-17	2005-08-12	2005-08-12	ENSG00000179583	ENSG00000179583		"""Nucleotide-binding domain and leucine rich repeat containing"""	7067	protein-coding gene	gene with protein product	"""NLR family, acid domain containing"", ""nucleotide-binding oligomerization domain, leucine rich repeat and acid domain containing"""	600005	"""MHC class II transactivator"""	MHC2TA		8402893	Standard	NM_000246		Approved	C2TA, NLRA	uc002dai.4	P33076	OTTHUMG00000129753	ENST00000324288.8:c.20G>A	16.37:g.10971207G>A	ENSP00000316328:p.Arg7His	Somatic		Capture	Illumina HiSeq	Phase_I	10878708	A0N0N9|D3DUG0|E9PFE0|Q29675|Q8SNB8|Q96KL4	Missense_Mutation	SNP	ENST00000324288.8	37	CCDS10544.1	.	.	.	.	.	.	.	.	.	.	G	0.013	-1.634063	0.00806	0.0	1.16E-4	ENSG00000179583	ENST00000324288;ENST00000381835;ENST00000388910;ENST00000537380	T;T	0.72725	-0.68;1.63	2.94	-4.73	0.03259	.	.	.	.	.	T	0.49355	0.1552	N	0.22421	0.69	0.09310	N	1	B;B;B;B;B;B	0.06786	0.0;0.001;0.0;0.0;0.0;0.0	B;B;B;B;B;B	0.01281	0.0;0.0;0.0;0.0;0.0;0.0	T	0.20042	-1.0287	9	0.37606	T	0.19	.	6.3865	0.21563	0.4919:0.1306:0.3775:0.0	.	7;7;7;7;7;7	F5H2J4;E9PFE0;A0N0N9;P33076;F2Z2G8;Q96KL4	.;.;.;C2TA_HUMAN;.;.	H	7	ENSP00000316328:R7H;ENSP00000371257:R7H	ENSP00000316328:R7H	R	+	2	0	CIITA	10878708	0.000000	0.05858	0.000000	0.03702	0.098000	0.18820	-0.948000	0.03897	-1.632000	0.01541	-1.786000	0.00637	CGC		CIITA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251966.2	NM_000246	
BFAR	51283	hgsc.bcm.edu	37	16	14743685	14743685	+	Missense_Mutation	SNP	A	A	G			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr16:14743685A>G	ENST00000261658.2	+	4	770	c.493A>G	c.(493-495)Agc>Ggc	p.S165G	BFAR_ENST00000563971.1_Intron|BFAR_ENST00000426842.2_Missense_Mutation_p.S37G	NM_016561.2	NP_057645.1	Q9NZS9	BFAR_HUMAN	bifunctional apoptosis regulator	165					apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)	endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	structural molecule activity (GO:0005198)|zinc ion binding (GO:0008270)			endometrium(4)|kidney(1)|large_intestine(2)|lung(1)|ovary(2)|skin(1)	11						CTATCACTGGAGCAGCAGGGA	0.572																																																	0			16											83.0	78.0	80.0					16																	14743685		2197	4300	6497	14651186	SO:0001583	missense	51283			AF173003	CCDS10554.1	16p13.2	2013-01-10			ENSG00000103429	ENSG00000103429		"""RING-type (C3HC4) zinc fingers"", ""Sterile alpha motif (SAM) domain containing"""	17613	protein-coding gene	gene with protein product						10716992	Standard	NM_016561		Approved	BAR, RNF47	uc002dco.3	Q9NZS9	OTTHUMG00000129848	ENST00000261658.2:c.493A>G	16.37:g.14743685A>G	ENSP00000261658:p.Ser165Gly	Somatic		Capture	Illumina HiSeq	Phase_I	14651186	A8K4Z9|B4DUT0|D3DUG8	Missense_Mutation	SNP	ENST00000261658.2	37	CCDS10554.1	.	.	.	.	.	.	.	.	.	.	A	14.01	2.408562	0.42715	.	.	ENSG00000103429	ENST00000261658;ENST00000426842	T;T	0.48201	3.19;0.82	5.35	3.04	0.35103	.	0.147966	0.64402	N	0.000005	T	0.32436	0.0829	L	0.34521	1.04	0.42239	D	0.991925	B;B	0.02656	0.0;0.0	B;B	0.04013	0.0;0.001	T	0.07385	-1.0775	10	0.33141	T	0.24	-13.5849	7.1432	0.25568	0.775:0.1478:0.0772:0.0	.	37;165	B4DUT0;Q9NZS9	.;BFAR_HUMAN	G	165;37	ENSP00000261658:S165G;ENSP00000400634:S37G	ENSP00000261658:S165G	S	+	1	0	BFAR	14651186	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	3.749000	0.55150	0.316000	0.23135	0.379000	0.24179	AGC		BFAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252088.1	NM_016561	
SMG1	23049	hgsc.bcm.edu	37	16	18841685	18841685	+	Silent	SNP	T	T	C			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr16:18841685T>C	ENST00000446231.2	-	52	9211	c.8799A>G	c.(8797-8799)ctA>ctG	p.L2933L	SMG1_ENST00000389467.3_Silent_p.L2933L			Q96Q15	SMG1_HUMAN	SMG1 phosphatidylinositol 3-kinase-related kinase	2933					DNA repair (GO:0006281)|gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|peptidyl-serine phosphorylation (GO:0018105)|phosphatidylinositol phosphorylation (GO:0046854)|protein autophosphorylation (GO:0046777)|response to stress (GO:0006950)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.L2929L(1)		NS(2)|breast(8)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(37)|ovary(1)|skin(1)|stomach(4)|urinary_tract(1)	92						ACTGAGCATGTAGTAGTCTAC	0.423																																																	1	Substitution - coding silent(1)	lung(1)	16											68.0	63.0	65.0					16																	18841685		1867	4109	5976	18749186	SO:0001819	synonymous_variant	23049			AB061371	CCDS45430.1	16p12.3	2013-07-02	2013-07-02		ENSG00000157106	ENSG00000157106			30045	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase-related kinase"""	607032	"""smg-1 homolog, phosphatidylinositol 3-kinase-related kinase (C. elegans)"""			9455477, 11331269, 17229728	Standard	NM_015092		Approved	LIP, KIAA0421, ATX	uc002dfm.3	Q96Q15	OTTHUMG00000166900	ENST00000446231.2:c.8799A>G	16.37:g.18841685T>C		Somatic		Capture	Illumina HiSeq	Phase_I	18749186	O43305|Q13284|Q8NFX2|Q96QV0|Q96RW3	Silent	SNP	ENST00000446231.2	37	CCDS45430.1																																																																																				SMG1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000391817.1	NM_015092	
OTOA	146183	hgsc.bcm.edu	37	16	21698933	21698933	+	Missense_Mutation	SNP	T	T	C			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr16:21698933T>C	ENST00000286149.4	+	7	600	c.599T>C	c.(598-600)cTc>cCc	p.L200P	OTOA_ENST00000388956.4_Missense_Mutation_p.L121P|OTOA_ENST00000388958.3_Missense_Mutation_p.L200P			Q7RTW8	OTOAN_HUMAN	otoancorin	200					cell-matrix adhesion (GO:0007160)|sensory perception of sound (GO:0007605)|transmission of nerve impulse (GO:0019226)	anchored component of membrane (GO:0031225)|apical plasma membrane (GO:0016324)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(9)|liver(2)|lung(23)|ovary(1)|prostate(1)|skin(5)|stomach(1)	46				GBM - Glioblastoma multiforme(48;0.0414)		ACAGAGCGGCTCCCTCGGGAC	0.532																																																	0			16											41.0	39.0	39.0					16																	21698933		2199	4300	6499	21606434	SO:0001583	missense	146183			AK057335	CCDS10600.2, CCDS32403.1, CCDS53994.1	16p12.2	2009-08-18	2002-07-05		ENSG00000155719	ENSG00000155719			16378	protein-coding gene	gene with protein product	"""cancer/testis antigen 108"""	607038	"""deafness, autosomal recessive 22"""	DFNB22		11972037, 19088187	Standard	NM_170664		Approved	CT108	uc002djh.3	Q7RTW8	OTTHUMG00000090721	ENST00000286149.4:c.599T>C	16.37:g.21698933T>C	ENSP00000286149:p.Leu200Pro	Somatic		Capture	Illumina HiSeq	Phase_I	21606434	A1L3A8|A2VDI0|B3KWU3|E9PF51|Q8NA86|Q96M76	Missense_Mutation	SNP	ENST00000286149.4	37		.	.	.	.	.	.	.	.	.	.	T	13.09	2.132888	0.37630	.	.	ENSG00000155719	ENST00000388958;ENST00000286149;ENST00000388956	T;T;T	0.26518	1.73;1.73;1.73	4.46	4.46	0.54185	.	0.000000	0.64402	D	0.000005	T	0.47414	0.1444	M	0.66939	2.045	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.49133	-0.8971	10	0.72032	D	0.01	-9.7355	11.771	0.51958	0.0:0.0:0.0:1.0	.	121;200	B3KWU3;E9PF51	.;.	P	200;200;121	ENSP00000373610:L200P;ENSP00000286149:L200P;ENSP00000373608:L121P	ENSP00000286149:L200P	L	+	2	0	OTOA	21606434	1.000000	0.71417	0.376000	0.26042	0.151000	0.21798	5.478000	0.66806	1.661000	0.50771	0.451000	0.29950	CTC		OTOA-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000430021.1		
CDH1	999	hgsc.bcm.edu	37	16	68845617	68845617	+	Missense_Mutation	SNP	A	A	G			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr16:68845617A>G	ENST00000261769.5	+	7	1054	c.863A>G	c.(862-864)gAc>gGc	p.D288G	CDH1_ENST00000562836.1_3'UTR|CDH1_ENST00000422392.2_Missense_Mutation_p.D288G|RP11-354M1.2_ENST00000563916.1_RNA	NM_004360.3	NP_004351.1	P12830	CADH1_HUMAN	cadherin 1, type 1, E-cadherin (epithelial)	288	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|apoptotic process (GO:0006915)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to amino acid stimulus (GO:0071230)|cellular response to indole-3-methanol (GO:0071681)|cellular response to lithium ion (GO:0071285)|cochlea development (GO:0090102)|epithelial cell morphogenesis (GO:0003382)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|homophilic cell adhesion (GO:0007156)|intestinal epithelial cell development (GO:0060576)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of epithelial cell proliferation (GO:0050680)|neuron projection development (GO:0031175)|pituitary gland development (GO:0021983)|positive regulation of transcription factor import into nucleus (GO:0042993)|positive regulation of transcription, DNA-templated (GO:0045893)|protein homooligomerization (GO:0051260)|protein localization to plasma membrane (GO:0072659)|protein metabolic process (GO:0019538)|regulation of branching involved in salivary gland morphogenesis (GO:0060693)|regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043281)|regulation of immune response (GO:0050776)|regulation of neuron migration (GO:2001222)|regulation of protein localization to cell surface (GO:2000008)|regulation of water loss via skin (GO:0033561)|response to drug (GO:0042493)|response to toxic substance (GO:0009636)|salivary gland cavitation (GO:0060662)|sensory perception of sound (GO:0007605)|single organismal cell-cell adhesion (GO:0016337)|synapse assembly (GO:0007416)|tight junction assembly (GO:0070830)|trophectodermal cell differentiation (GO:0001829)	actin cytoskeleton (GO:0015629)|aggresome (GO:0016235)|apical junction complex (GO:0043296)|apical part of cell (GO:0045177)|axon terminus (GO:0043679)|basolateral plasma membrane (GO:0016323)|catenin complex (GO:0016342)|cell junction (GO:0030054)|cell surface (GO:0009986)|cell-cell adherens junction (GO:0005913)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|endosome (GO:0005768)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|node of Ranvier (GO:0033268)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)|trans-Golgi network (GO:0005802)	ankyrin binding (GO:0030506)|beta-catenin binding (GO:0008013)|calcium ion binding (GO:0005509)|cell adhesion molecule binding (GO:0050839)|gamma-catenin binding (GO:0045295)|glycoprotein binding (GO:0001948)|GTPase activating protein binding (GO:0032794)	p.E283fs*4(1)|p.D288fs*3(1)|p.?(1)		NS(6)|biliary_tract(8)|breast(161)|central_nervous_system(4)|endometrium(9)|kidney(4)|large_intestine(13)|lung(13)|oesophagus(3)|ovary(2)|prostate(3)|soft_tissue(2)|stomach(76)|thyroid(1)|upper_aerodigestive_tract(3)|urinary_tract(3)	311		all_neural(199;0.0189)|Ovarian(137;0.0563)		Epithelial(162;8.44e-05)|all cancers(182;0.000404)|OV - Ovarian serous cystadenocarcinoma(108;0.000426)|BRCA - Breast invasive adenocarcinoma(181;0.0261)		ACAGCCACAGACGCGGACGAT	0.493			"""Mis, N, F, S"""		"""lobular breast, gastric"""	gastric			Hereditary Diffuse Gastric Cancer																														yes	Rec	yes	Familial gastric carcinoma	16	16q22.1	999	"""cadherin 1, type 1, E-cadherin (epithelial) (ECAD)"""		E	3	Unknown(1)|Complex - frameshift(1)|Deletion - Frameshift(1)	breast(3)	16											115.0	99.0	105.0					16																	68845617		2198	4300	6498	67403118	SO:0001583	missense	51343	Familial Cancer Database	HDGC	L08599	CCDS10869.1	16q22.1	2014-09-17			ENSG00000039068	ENSG00000039068		"""CD molecules"", ""Cadherins / Major cadherins"""	1748	protein-coding gene	gene with protein product	"""E-Cadherin"""	192090		UVO		9925936	Standard	NM_004360		Approved	uvomorulin, CD324	uc002ewg.1	P12830	OTTHUMG00000137561	ENST00000261769.5:c.863A>G	16.37:g.68845617A>G	ENSP00000261769:p.Asp288Gly	Somatic		Capture	Illumina HiSeq	Phase_I	67403118	A8K1U7|Q13799|Q14216|Q15855|Q16194|Q4PJ14|Q9UII8	Missense_Mutation	SNP	ENST00000261769.5	37	CCDS10869.1	.	.	.	.	.	.	.	.	.	.	A	24.9	4.585741	0.86748	.	.	ENSG00000039068	ENST00000261769;ENST00000379120;ENST00000268794;ENST00000422392	T;T	0.74737	-0.87;-0.87	5.19	5.19	0.71726	Cadherin (5);Cadherin-like (1);	0.000000	0.52532	D	0.000066	D	0.91540	0.7328	H	0.98682	4.3	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	D	0.94689	0.7872	10	0.87932	D	0	.	15.0395	0.71777	1.0:0.0:0.0:0.0	.	288;288	Q9UII8;P12830	.;CADH1_HUMAN	G	288	ENSP00000261769:D288G;ENSP00000414946:D288G	ENSP00000261769:D288G	D	+	2	0	CDH1	67403118	1.000000	0.71417	0.157000	0.22605	0.867000	0.49689	8.962000	0.93254	2.090000	0.63153	0.459000	0.35465	GAC		CDH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268897.2	NM_004360	
MAF	4094	hgsc.bcm.edu	37	16	79633485	79633485	+	Silent	SNP	C	C	A			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr16:79633485C>A	ENST00000393350.1	-	1	1126	c.315G>T	c.(313-315)gcG>gcT	p.A105A	MAF_ENST00000569649.1_Silent_p.A105A|MAF_ENST00000326043.4_Silent_p.A105A	NM_001031804.2	NP_001026974.1	O75444	MAF_HUMAN	v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog	105					cell development (GO:0048468)|cytokine production (GO:0001816)|inner ear development (GO:0048839)|lens fiber cell differentiation (GO:0070306)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of chondrocyte differentiation (GO:0032330)|transcription from RNA polymerase II promoter (GO:0006366)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(5)	10		all_epithelial(2;0.139)|Lung NSC(2;0.186)|Melanoma(2;0.211)		UCEC - Uterine corpus endometrioid carcinoma (2;0.0178)		TGAAGCCCAGCGCCTCGGGGT	0.706			T	IGH@	MM																																			Dom	yes		16	16q22-q23	4094	v-maf musculoaponeurotic fibrosarcoma oncogene homolog		L	0			16											7.0	9.0	8.0					16																	79633485		1912	3886	5798	78190986	SO:0001819	synonymous_variant	4094				CCDS10928.1, CCDS42198.1	16q22-q23	2013-07-09	2013-07-09		ENSG00000178573	ENSG00000178573			6776	protein-coding gene	gene with protein product		177075				14998484	Standard	NM_005360		Approved	c-MAF	uc002ffm.3	O75444	OTTHUMG00000137621	ENST00000393350.1:c.315G>T	16.37:g.79633485C>A		Somatic		Capture	Illumina HiSeq	Phase_I	78190986	Q66I47|Q9UP93	Silent	SNP	ENST00000393350.1	37	CCDS42198.1																																																																																				MAF-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317037.1		
PKD1L2	114780	hgsc.bcm.edu	37	16	81167282	81167282	+	RNA	SNP	G	G	A	rs547588970		TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr16:81167282G>A	ENST00000534142.1	-	0	131				PKD1L2_ENST00000533478.1_RNA|PKD1L2_ENST00000525539.1_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						CTGTTTCTTCGTGCTCGGAAC	0.562													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19033	0.0		0.0	False		,,,				2504	0.0																0			16											97.0	97.0	97.0					16																	81167282		2090	4229	6319	79724783			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.81167282G>A		Somatic		Capture	Illumina HiSeq	Phase_I	79724783	Q6UEE1|Q6ZN46|Q6ZSP2|Q8N1H9|Q96CL2|Q96Q08	Nonsense_Mutation	SNP	ENST00000534142.1	37																																																																																					PKD1L2-009	PUTATIVE	basic|exp_conf	processed_transcript	polymorphic_pseudogene	OTTHUMT00000387969.1		
CDH13	1012	hgsc.bcm.edu	37	16	83817013	83817013	+	Silent	SNP	C	C	T	rs374049780		TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr16:83817013C>T	ENST00000566620.1	+	13	2360	c.2070C>T	c.(2068-2070)aaC>aaT	p.N690N	CDH13_ENST00000428848.3_Silent_p.N651N|CDH13_ENST00000268613.10_Silent_p.N737N	NM_001220488.1|NM_001220489.1|NM_001220490.1|NM_001257.4	NP_001207417.1|NP_001207418.1|NP_001207419.1|NP_001248.1	P55290	CAD13_HUMAN	cadherin 13	690	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|calcium-dependent cell-cell adhesion (GO:0016339)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|endothelial cell migration (GO:0043542)|homophilic cell adhesion (GO:0007156)|keratinocyte proliferation (GO:0043616)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|low-density lipoprotein particle mediated signaling (GO:0055096)|mitotic cell cycle (GO:0000278)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell proliferation (GO:0008285)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of positive chemotaxis (GO:0050927)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|Rac protein signal transduction (GO:0016601)|regulation of cell growth (GO:0001558)|regulation of endocytosis (GO:0030100)|regulation of epidermal growth factor receptor signaling pathway (GO:0042058)|Rho protein signal transduction (GO:0007266)|sprouting angiogenesis (GO:0002040)	anchored component of membrane (GO:0031225)|caveola (GO:0005901)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	adiponectin binding (GO:0055100)|cadherin binding (GO:0045296)|calcium ion binding (GO:0005509)|lipoprotein particle binding (GO:0071813)|low-density lipoprotein particle binding (GO:0030169)			large_intestine(1)	1		all_cancers(2;1.34e-11)|all_epithelial(2;4.3e-09)		COAD - Colon adenocarcinoma(5;0.0268)		TGGACTGCAACGCGGCAGGGG	0.542																																																	0			16						C	,,,	0,4018		0,0,2009	90.0	89.0	90.0		2211,1953,1308,2070	-1.5	0.0	16		90	1,8347		0,1,4173	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	CDH13	NM_001220488.1,NM_001220489.1,NM_001220490.1,NM_001257.4	,,,	0,1,6182	TT,TC,CC		0.012,0.0,0.0081	,,,	737/761,651/675,436/460,690/714	83817013	1,12365	2009	4174	6183	82374514	SO:0001819	synonymous_variant	1012			U59288	CCDS56009.1, CCDS56010.1, CCDS58485.1, CCDS58486.1, CCDS58487.1	16q23.3	2013-08-27	2013-08-27			ENSG00000140945		"""Cadherins / Major cadherins"""	1753	protein-coding gene	gene with protein product	"""T-cadherin"", ""H-cadherin (heart)"""	601364				8673923, 9468307	Standard	NM_001257		Approved	CDHH	uc010vns.2	P55290		ENST00000566620.1:c.2070C>T	16.37:g.83817013C>T		Somatic		Capture	Illumina HiSeq	Phase_I	82374514	A8W476|A8W477|B7Z590|C9JRI6|J3KN62|Q6GTW4|Q8TBX3	Silent	SNP	ENST00000566620.1	37	CCDS58486.1																																																																																				CDH13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000432917.1	NM_001257	
CBFA2T3	863	hgsc.bcm.edu	37	16	88951498	88951498	+	Missense_Mutation	SNP	C	C	T			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr16:88951498C>T	ENST00000268679.4	-	7	1469	c.1073G>A	c.(1072-1074)cGc>cAc	p.R358H	RP11-830F9.5_ENST00000562405.1_RNA|CBFA2T3_ENST00000436887.2_Missense_Mutation_p.R320H|RP11-830F9.5_ENST00000565053.1_RNA|CBFA2T3_ENST00000360302.2_Missense_Mutation_p.R272H|RP11-830F9.5_ENST00000569249.1_RNA|RP11-830F9.5_ENST00000562574.1_RNA|CBFA2T3_ENST00000327483.5_Missense_Mutation_p.R272H|CBFA2T3_ENST00000448839.1_Missense_Mutation_p.R282H	NM_005187.5	NP_005178.4	O75081	MTG16_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 3	358	Mediates interaction with PDE7A (in isoform 2).|Mediates localization to the nucleus. {ECO:0000250}.				cell proliferation (GO:0008283)|granulocyte differentiation (GO:0030851)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	Golgi apparatus (GO:0005794)|membrane (GO:0016020)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(3)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	17				BRCA - Breast invasive adenocarcinoma(80;0.0275)		GTCTGGGTGGCGGTAGGCATC	0.701			T	RUNX1	AML																																			Dom	yes		16	16q24	863	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 3 (MTG-16)"""		L	0			16											71.0	63.0	66.0					16																	88951498		2191	4294	6485	87478999	SO:0001583	missense	863			AF052213	CCDS10972.1, CCDS10973.1	16q24	2013-10-16			ENSG00000129993	ENSG00000129993		"""Zinc fingers, MYND-type"", ""A-kinase anchor proteins"""	1537	protein-coding gene	gene with protein product	"""myeloid translocation gene 8 and 16b"""	603870				9790752, 20150326	Standard	NM_005187		Approved	MTGR2, ZMYND4, MTG16	uc002fmm.2	O75081	OTTHUMG00000137864	ENST00000268679.4:c.1073G>A	16.37:g.88951498C>T	ENSP00000268679:p.Arg358His	Somatic		Capture	Illumina HiSeq	Phase_I	87478999	D3DX78|O60615|O60616|O60617|O75082|O75107|O75108|Q0P5Z6|Q6P5W6	Missense_Mutation	SNP	ENST00000268679.4	37	CCDS10972.1	.	.	.	.	.	.	.	.	.	.	C	21.7	4.193536	0.78902	.	.	ENSG00000129993	ENST00000327483;ENST00000268679;ENST00000436887;ENST00000448839;ENST00000360302	T;T;T;T;T	0.51071	1.34;0.72;0.72;1.33;1.34	4.42	4.42	0.53409	.	0.000000	0.85682	D	0.000000	T	0.68805	0.3041	M	0.76574	2.34	0.80722	D	1	D;D;D;P	0.89917	1.0;1.0;1.0;0.738	D;D;D;B	0.78314	0.991;0.98;0.985;0.263	T	0.73720	-0.3894	10	0.72032	D	0.01	-8.7407	17.146	0.86767	0.0:1.0:0.0:0.0	.	320;358;358;272	E7EU24;B2RBQ7;O75081;O75081-2	.;.;MTG16_HUMAN;.	H	272;358;320;282;272	ENSP00000332122:R272H;ENSP00000268679:R358H;ENSP00000395739:R320H;ENSP00000401254:R282H;ENSP00000353449:R272H	ENSP00000268679:R358H	R	-	2	0	CBFA2T3	87478999	0.441000	0.25626	0.879000	0.34478	0.385000	0.30292	1.624000	0.37018	2.434000	0.82447	0.561000	0.74099	CGC		CBFA2T3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269545.2	NM_005187	
DEF8	54849	hgsc.bcm.edu	37	16	90030715	90030715	+	Silent	SNP	C	C	T			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr16:90030715C>T	ENST00000268676.7	+	11	1412	c.1323C>T	c.(1321-1323)tgC>tgT	p.C441C	DEF8_ENST00000570182.1_Silent_p.C370C|DEF8_ENST00000563795.1_Silent_p.C363C|DEF8_ENST00000567874.1_Silent_p.C320C|DEF8_ENST00000563594.1_Silent_p.C380C|DEF8_ENST00000569453.1_Silent_p.C380C	NM_207514.2	NP_997397.1	Q6ZN54	DEFI8_HUMAN	differentially expressed in FDCP 8 homolog (mouse)	441					intracellular signal transduction (GO:0035556)		zinc ion binding (GO:0008270)			central_nervous_system(1)|cervix(1)|large_intestine(1)|lung(8)|upper_aerodigestive_tract(1)	12		all_cancers(9;7.59e-13)|Lung NSC(15;1.56e-06)|all_lung(18;2.18e-06)|all_neural(9;0.0019)|all_hematologic(23;0.0194)		BRCA - Breast invasive adenocarcinoma(80;0.0274)		AGCTGGACTGCGAGGTGGGCC	0.662																																																	0			16											28.0	24.0	26.0					16																	90030715		2197	4300	6497	88558216	SO:0001819	synonymous_variant	54849			AK131370	CCDS10989.1, CCDS45555.1, CCDS58493.1, CCDS58494.1, CCDS58495.1, CCDS58496.1	16q24.3	2011-01-31			ENSG00000140995	ENSG00000140995			25969	protein-coding gene	gene with protein product						12477932	Standard	NM_207514		Approved	FLJ20186	uc002fpn.2	Q6ZN54	OTTHUMG00000138989	ENST00000268676.7:c.1323C>T	16.37:g.90030715C>T		Somatic		Capture	Illumina HiSeq	Phase_I	88558216	B3KT65|B4DK62|B4E0S9|B7Z3H6|H3BUG7|Q8N8N3|Q9NXL0	Silent	SNP	ENST00000268676.7	37	CCDS10989.1																																																																																				DEF8-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000272878.1	NM_207514	
MYOM1	8736	hgsc.bcm.edu	37	18	3188882	3188882	+	Missense_Mutation	SNP	C	C	T	rs200770047		TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr18:3188882C>T	ENST00000356443.4	-	4	968	c.635G>A	c.(634-636)aGg>aAg	p.R212K	MYOM1_ENST00000400569.3_Missense_Mutation_p.R212K|RP13-270P17.2_ENST00000580139.1_RNA|MYOM1_ENST00000261606.7_Missense_Mutation_p.R212K	NM_003803.3|NM_019856.1	NP_003794.3|NP_062830.1	P52179	MYOM1_HUMAN	myomesin 1	212	6 X 6 AA tandem repeats.				muscle contraction (GO:0006936)	M band (GO:0031430)|striated muscle myosin thick filament (GO:0005863)	identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|structural constituent of muscle (GO:0008307)	p.R212K(1)		NS(2)|autonomic_ganglia(1)|central_nervous_system(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(20)|ovary(4)|pancreas(1)|prostate(4)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	77						CGTGGACTGCCTGGATGCCGT	0.517																																																	1	Substitution - Missense(1)	endometrium(1)	18											260.0	242.0	248.0					18																	3188882		2044	4187	6231	3178882	SO:0001583	missense	8736			AF185573	CCDS45823.1, CCDS45824.1	18p11.31	2014-09-17	2012-10-17		ENSG00000101605	ENSG00000101605		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7613	protein-coding gene	gene with protein product	"""skelemin"""	603508	"""myomesin 1 (skelemin) (185kD)"", ""myomesin 1 (skelemin) 185kDa"", ""myomesin 1, 185kDa"""			9806852	Standard	NM_019856		Approved		uc002klp.3	P52179	OTTHUMG00000178209	ENST00000356443.4:c.635G>A	18.37:g.3188882C>T	ENSP00000348821:p.Arg212Lys	Somatic		Capture	Illumina HiSeq	Phase_I	3178882	Q14BD6|Q6H969|Q6ZUU0	Missense_Mutation	SNP	ENST00000356443.4	37	CCDS45824.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	2.966	-0.213546	0.06140	.	.	ENSG00000101605	ENST00000356443;ENST00000400569;ENST00000261606	T;T;T	0.45668	1.03;1.04;0.89	3.23	0.752	0.18398	.	0.084010	0.41097	N	0.000942	T	0.14830	0.0358	N	0.08118	0	0.09310	N	0.999995	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.28808	-1.0032	10	0.05351	T	0.99	.	4.9448	0.13984	0.0:0.2653:0.0:0.7347	.	212;212	P52179-2;P52179	.;MYOM1_HUMAN	K	212	ENSP00000348821:R212K;ENSP00000383413:R212K;ENSP00000261606:R212K	ENSP00000261606:R212K	R	-	2	0	MYOM1	3178882	0.789000	0.28775	0.018000	0.16275	0.000000	0.00434	1.455000	0.35190	0.165000	0.19558	-1.097000	0.02148	AGG		MYOM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000441037.2	NM_003803	
VHL	7428	hgsc.bcm.edu	37	3	10183612	10183612	+	Silent	SNP	A	A	G			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr3:10183612A>G	ENST00000256474.2	+	1	921	c.81A>G	c.(79-81)gaA>gaG	p.E27E	VHL_ENST00000345392.2_Silent_p.E27E|snoU13_ENST00000458986.1_RNA	NM_000551.3	NP_000542.1	P40337	VHL_HUMAN	von Hippel-Lindau tumor suppressor, E3 ubiquitin protein ligase	27	8 X 5 AA tandem repeats of G-[PAVG]-E-E- [DAYSLE].				cell morphogenesis (GO:0000902)|cellular response to hypoxia (GO:0071456)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061428)|positive regulation of cell differentiation (GO:0045597)|positive regulation of transcription, DNA-templated (GO:0045893)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|proteolysis (GO:0006508)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|intermediate filament cytoskeleton (GO:0045111)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	enzyme binding (GO:0019899)|transcription factor binding (GO:0008134)|ubiquitin protein ligase activity (GO:0061630)|ubiquitin-protein transferase activity (GO:0004842)	p.E27E(1)		adrenal_gland(25)|autonomic_ganglia(3)|central_nervous_system(2)|endometrium(6)|kidney(1662)|large_intestine(14)|lung(6)|pancreas(18)|paratesticular_tissues(1)|pleura(1)|skin(1)|soft_tissue(24)|thyroid(3)|upper_aerodigestive_tract(3)	1769				Kidney(1;0.000404)|KIRC - Kidney renal clear cell carcinoma(1;0.000569)		GCCCTGAAGAAGACGGCGGGG	0.731		1	"""D, Mis, N, F, S"""		"""renal, hemangioma, pheochromocytoma"""	"""renal, hemangioma, pheochromocytoma"""			von Hippel-Lindau disease;Pheochromocytoma (Adrenal), Familial;Chuvash Polycythemia																														yes	Rec	yes	von Hippel-Lindau syndrome	3	3p25	7428	von Hippel-Lindau syndrome gene		"""E, M, O"""	1	Substitution - coding silent(1)	kidney(1)	3											10.0	13.0	12.0					3																	10183612		1939	3854	5793	10158612	SO:0001819	synonymous_variant	7428	Familial Cancer Database	VHL; ;Erythrocytosis, Familial type 2	L15409	CCDS2597.1, CCDS2598.1	3p25.3	2014-09-17	2012-02-23		ENSG00000134086	ENSG00000134086			12687	protein-coding gene	gene with protein product		608537	"""von Hippel-Lindau syndrome"", ""von Hippel-Lindau tumor suppressor"""			9671762	Standard	NM_000551		Approved	VHL1	uc003bvc.3	P40337	OTTHUMG00000128668	ENST00000256474.2:c.81A>G	3.37:g.10183612A>G		Somatic		Capture	Illumina HiSeq	Phase_I	10158612	B2RE45|Q13599|Q6PDA9	Silent	SNP	ENST00000256474.2	37	CCDS2597.1																																																																																				VHL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250559.1	NM_000551	
FBLN2	2199	hgsc.bcm.edu	37	3	13671426	13671426	+	Silent	SNP	G	G	A			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr3:13671426G>A	ENST00000295760.7	+	13	2877	c.2808G>A	c.(2806-2808)gcG>gcA	p.A936A	FBLN2_ENST00000404922.3_Silent_p.A983A|FBLN2_ENST00000492059.1_Silent_p.A983A|FBLN2_ENST00000535798.1_Silent_p.A962A	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2	936	EGF-like 7; calcium-binding. {ECO:0000255|PROSITE-ProRule:PRU00076}.				extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)|vesicle (GO:0031982)	calcium ion binding (GO:0005509)|extracellular matrix binding (GO:0050840)|extracellular matrix structural constituent (GO:0005201)			haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(10)|ovary(3)|prostate(3)|urinary_tract(1)	24			UCEC - Uterine corpus endometrioid carcinoma (1;0.00416)			TGCTAGCAGCGGACGGCAAGC	0.647																																																	0			3											22.0	26.0	25.0					3																	13671426		2138	4238	6376	13646427	SO:0001819	synonymous_variant	2199			X82494	CCDS46761.1, CCDS46762.1	3p25-p24	2010-06-15			ENSG00000163520	ENSG00000163520		"""Fibulins"""	3601	protein-coding gene	gene with protein product		135821				7806230	Standard	NM_001165035		Approved		uc011ava.2	P98095	OTTHUMG00000155437	ENST00000295760.7:c.2808G>A	3.37:g.13671426G>A		Somatic		Capture	Illumina HiSeq	Phase_I	13646427	B7Z9C5|Q8IUI0|Q8IUI1	Missense_Mutation	SNP	ENST00000295760.7	37	CCDS46762.1																																																																																				FBLN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340083.3	NM_001004019	
KAT2B	8850	hgsc.bcm.edu	37	3	20164271	20164271	+	Missense_Mutation	SNP	A	A	G			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr3:20164271A>G	ENST00000263754.4	+	9	1843	c.1388A>G	c.(1387-1389)gAc>gGc	p.D463G		NM_003884.4	NP_003875.3	Q92831	KAT2B_HUMAN	K(lysine) acetyltransferase 2B	463					cell cycle arrest (GO:0007050)|cellular response to insulin stimulus (GO:0032869)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|gene expression (GO:0010467)|histone H3 acetylation (GO:0043966)|histone H3-K9 acetylation (GO:0043970)|internal peptidyl-lysine acetylation (GO:0018393)|N-terminal peptidyl-lysine acetylation (GO:0018076)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|Notch signaling pathway (GO:0007219)|peptidyl-lysine acetylation (GO:0018394)|positive regulation of gluconeogenesis (GO:0045722)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein acetylation (GO:0006473)|regulation of protein ADP-ribosylation (GO:0010835)|rhythmic process (GO:0048511)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	A band (GO:0031672)|actomyosin (GO:0042641)|Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|I band (GO:0031674)|kinetochore (GO:0000776)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)	acetyltransferase activity (GO:0016407)|cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|histone acetyltransferase activity (GO:0004402)|histone deacetylase binding (GO:0042826)|lysine N-acetyltransferase activity, acting on acetyl phosphate as donor (GO:0004468)|protein complex binding (GO:0032403)|protein kinase binding (GO:0019901)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(15)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	40						ACCATCACGGACCCTGCAGCA	0.522																																																	0			3											76.0	73.0	74.0					3																	20164271		2203	4300	6503	20139275	SO:0001583	missense	8850			U57316	CCDS2634.1	3p24	2011-07-01	2008-07-04	2008-07-04	ENSG00000114166	ENSG00000114166		"""Chromatin-modifying enzymes / K-acetyltransferases"""	8638	protein-coding gene	gene with protein product		602303	"""p300/CBP-associated factor"""	PCAF		8684459, 9722949	Standard	NM_003884		Approved	P/CAF, GCN5, GCN5L	uc003cbq.3	Q92831	OTTHUMG00000130481	ENST00000263754.4:c.1388A>G	3.37:g.20164271A>G	ENSP00000263754:p.Asp463Gly	Somatic		Capture	Illumina HiSeq	Phase_I	20139275	Q6NSK1	Missense_Mutation	SNP	ENST00000263754.4	37	CCDS2634.1	.	.	.	.	.	.	.	.	.	.	A	34	5.326534	0.95708	.	.	ENSG00000114166	ENST00000263754	T	0.30714	1.52	6.16	6.16	0.99307	.	0.000000	0.85682	D	0.000000	T	0.60064	0.2240	M	0.83223	2.63	0.80722	D	1	D	0.71674	0.998	D	0.70935	0.971	T	0.64939	-0.6289	10	0.72032	D	0.01	-32.1853	16.8061	0.85666	1.0:0.0:0.0:0.0	.	463	Q92831	KAT2B_HUMAN	G	463	ENSP00000263754:D463G	ENSP00000263754:D463G	D	+	2	0	KAT2B	20139275	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.257000	0.95545	2.367000	0.80283	0.528000	0.53228	GAC		KAT2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252880.1	NM_003884	
CTNNB1	1499	hgsc.bcm.edu	37	3	41266138	41266138	+	Silent	SNP	T	T	C			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr3:41266138T>C	ENST00000349496.5	+	3	415	c.135T>C	c.(133-135)tcT>tcC	p.S45S	CTNNB1_ENST00000396185.3_Silent_p.S45S|CTNNB1_ENST00000405570.1_Silent_p.S45S|CTNNB1_ENST00000453024.1_Silent_p.S38S|CTNNB1_ENST00000396183.3_Silent_p.S45S	NM_001904.3	NP_001895.1	P35222	CTNB1_HUMAN	catenin (cadherin-associated protein), beta 1, 88kDa	45			Missing (in colorectal cancer). {ECO:0000269|PubMed:9065402}.|S -> F (in hepatocellular carcinoma). {ECO:0000269|PubMed:10435629}.|S -> P (in hepatocellular carcinoma). {ECO:0000269|PubMed:10435629}.		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.S45del(53)|p.A5_A80del(53)|p.A5_Q143del(7)|p.A5_A80>D(7)|p.Q28_H134del(5)|p.?(4)|p.W25_I140del(3)|p.T3_A126del(2)|p.S45_S47>C(2)|p.D32_S47del(2)|p.P44_S45del(2)|p.M5_N141>D(2)|p.L10_N141del(2)|p.A5_Y142>D(2)|p.A5_Q143>E(1)|p.S37_G48>C(1)|p.A13_R151del(1)|p.H36_E53>L(1)|p.M14_S45del(1)|p.S45_G48del(1)|p.Q28_Q61del(1)|p.T41_N51del(1)|p.M1_A87del(1)|p.S45_L46del(1)|p.A20_N141del(1)|p.D11_Y142>H(1)|p.P44_N51del(1)|p.I35_K170del(1)|p.Y30_A97del(1)|p.T42_G48del(1)|p.S45_D58del(1)|p.V22_T102del(1)|p.A20_A80del(1)|p.V22_S71>A(1)|p.T40_L46del(1)|p.A5_T59del(1)|p.M1_V173del(1)|p.E15_I140>V(1)|p.H24_M131del(1)|p.S45E(1)|p.M8_A80del(1)|p.A5_E54del(1)|p.A21_A80del(1)|p.S45S(1)|p.P16_K133del(1)|p.V22_Y64del(1)|p.A20_S111del(1)|p.T42_K49>Q(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)		CAGCTCCTTCTCTGAGTGGTA	0.502		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"""	181	Deletion - In frame(152)|Complex - deletion inframe(20)|Unknown(7)|Substitution - Missense(1)|Substitution - coding silent(1)	liver(91)|kidney(35)|large_intestine(28)|stomach(7)|adrenal_gland(5)|skin(4)|soft_tissue(2)|small_intestine(2)|haematopoietic_and_lymphoid_tissue(1)|endometrium(1)|lung(1)|ovary(1)|prostate(1)|bone(1)|pancreas(1)	3											83.0	73.0	76.0					3																	41266138		2203	4300	6503	41241142	SO:0001819	synonymous_variant	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.135T>C	3.37:g.41266138T>C		Somatic		Capture	Illumina HiSeq	Phase_I	41241142	A8K1L7|Q8NEW9|Q8NI94|Q9H391	Silent	SNP	ENST00000349496.5	37	CCDS2694.1																																																																																				CTNNB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254182.2	NM_001098210	
TOPAZ1	375337	hgsc.bcm.edu	37	3	44323518	44323518	+	Missense_Mutation	SNP	G	G	A			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr3:44323518G>A	ENST00000309765.4	+	9	3599	c.3431G>A	c.(3430-3432)cGt>cAt	p.R1144H		NM_001145030.1	NP_001138502.1	Q8N9V7	TOPZ1_HUMAN	testis and ovary specific PAZ domain containing 1	1144						cytoplasm (GO:0005737)	metal ion binding (GO:0046872)										TTGCTACAGCGTGCAGGTATG	0.259																																																	0			3											107.0	97.0	100.0					3																	44323518		692	1583	2275	44298522	SO:0001583	missense	375337			AK093476	CCDS46809.1	3p21.33	2012-10-08	2012-10-08	2012-10-08	ENSG00000173769	ENSG00000173769			24746	protein-coding gene	gene with protein product		614412	"""chromosome 3 open reading frame 77"""	C3orf77		22069478	Standard	NM_001145030		Approved	FLJ36157	uc003cna.4	Q8N9V7	OTTHUMG00000156172	ENST00000309765.4:c.3431G>A	3.37:g.44323518G>A	ENSP00000310303:p.Arg1144His	Somatic		Capture	Illumina HiSeq	Phase_I	44298522		Missense_Mutation	SNP	ENST00000309765.4	37	CCDS46809.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.210537	0.79240	.	.	ENSG00000173769	ENST00000309765	T	0.15952	2.38	5.8	4.93	0.64822	.	.	.	.	.	T	0.12987	0.0315	L	0.27053	0.805	0.37603	D	0.920626	P	0.47841	0.901	B	0.39152	0.292	T	0.08126	-1.0737	9	0.66056	D	0.02	-3.5988	13.0445	0.58918	0.0742:0.0:0.9258:0.0	.	1144	Q8N9V7	CC077_HUMAN	H	1144	ENSP00000310303:R1144H	ENSP00000310303:R1144H	R	+	2	0	C3orf77	44298522	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	6.008000	0.70739	1.461000	0.47929	0.650000	0.86243	CGT		TOPAZ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000343247.1	NM_001145030	
PTPN23	25930	hgsc.bcm.edu	37	3	47452688	47452688	+	Missense_Mutation	SNP	C	C	T			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr3:47452688C>T	ENST00000265562.4	+	20	3477	c.3400C>T	c.(3400-3402)Cct>Tct	p.P1134S	PTPN23_ENST00000431726.1_Missense_Mutation_p.P1008S	NM_015466.2	NP_056281.1	Q9H3S7	PTN23_HUMAN	protein tyrosine phosphatase, non-receptor type 23	1134					cilium morphogenesis (GO:0060271)|negative regulation of epithelial cell migration (GO:0010633)|peptidyl-tyrosine dephosphorylation (GO:0035335)|positive regulation of adherens junction organization (GO:1903393)|positive regulation of early endosome to late endosome transport (GO:2000643)|positive regulation of homophilic cell adhesion (GO:1903387)|protein transport (GO:0015031)|ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway (GO:0043162)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	protein kinase binding (GO:0019901)|protein tyrosine phosphatase activity (GO:0004725)			breast(3)|central_nervous_system(1)|large_intestine(5)|lung(7)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)	23				BRCA - Breast invasive adenocarcinoma(193;0.000271)|KIRC - Kidney renal clear cell carcinoma(197;0.00558)|Kidney(197;0.00632)		CACTCAGTCTCCTGGGGGTGG	0.706																																																	0			3											7.0	9.0	8.0					3																	47452688		2128	4216	6344	47427692	SO:0001583	missense	25930			AB025194	CCDS2754.1	3p21.3	2011-06-09			ENSG00000076201	ENSG00000076201		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"""	14406	protein-coding gene	gene with protein product		606584				11095967	Standard	NM_015466		Approved	DKFZP564F0923, KIAA1471, HD-PTP	uc003crf.1	Q9H3S7	OTTHUMG00000133520	ENST00000265562.4:c.3400C>T	3.37:g.47452688C>T	ENSP00000265562:p.Pro1134Ser	Somatic		Capture	Illumina HiSeq	Phase_I	47427692	A8K0D7|Q7KZF8|Q8N6Z5|Q9BSR5|Q9P257|Q9UG03|Q9UMZ4	Missense_Mutation	SNP	ENST00000265562.4	37	CCDS2754.1	.	.	.	.	.	.	.	.	.	.	C	16.01	3.002038	0.54254	.	.	ENSG00000076201	ENST00000265562	T	0.02631	4.22	5.3	4.42	0.53409	.	0.140633	0.48286	D	0.000186	T	0.01976	0.0062	N	0.11560	0.145	0.52099	D	0.999947	P;P	0.47034	0.889;0.798	B;B	0.44224	0.444;0.3	T	0.66360	-0.5943	10	0.24483	T	0.36	-12.644	7.1484	0.25595	0.0:0.8149:0.0:0.1851	.	1008;1134	B4DST5;Q9H3S7	.;PTN23_HUMAN	S	1134	ENSP00000265562:P1134S	ENSP00000265562:P1134S	P	+	1	0	PTPN23	47427692	0.992000	0.36948	1.000000	0.80357	0.820000	0.46376	0.560000	0.23500	2.468000	0.83385	0.563000	0.77884	CCT		PTPN23-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257492.2	NM_015466	
IFT57	55081	hgsc.bcm.edu	37	3	107882575	107882575	+	Splice_Site	SNP	A	A	G			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr3:107882575A>G	ENST00000264538.3	-	10	1293	c.1046T>C	c.(1045-1047)gTt>gCt	p.V349A	IFT57_ENST00000468021.1_5'Flank	NM_018010.3	NP_060480.1	Q9NWB7	IFT57_HUMAN	intraflagellar transport 57	349	pDED.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|cilium assembly (GO:0042384)|heart looping (GO:0001947)|intraciliary transport (GO:0042073)|left/right pattern formation (GO:0060972)|negative regulation of epithelial cell proliferation (GO:0050680)|neural tube closure (GO:0001843)|regulation of apoptotic process (GO:0042981)|regulation of transcription, DNA-templated (GO:0006355)|smoothened signaling pathway (GO:0007224)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cilium (GO:0005929)|dendrite terminus (GO:0044292)|Golgi apparatus (GO:0005794)|intraciliary transport particle B (GO:0030992)|photoreceptor connecting cilium (GO:0032391)	DNA binding (GO:0003677)			kidney(1)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|urinary_tract(2)	14			OV - Ovarian serous cystadenocarcinoma(3;0.0428)|Epithelial(53;0.246)			TTCTTCCATAACCTTTCATGA	0.318																																																	0			3											127.0	115.0	119.0					3																	107882575		2203	4300	6503	109365265	SO:0001630	splice_region_variant	55081			AK001009	CCDS2951.1	3q13.13	2014-07-03	2014-07-03	2005-11-02	ENSG00000114446	ENSG00000114446		"""Intraflagellar transport homologs"""	17367	protein-coding gene	gene with protein product		606621	"""estrogen-related receptor beta like 1"", ""intraflagellar transport 57 homolog (Chlamydomonas)"""	ESRRBL1			Standard	NM_018010		Approved	FLJ10147, HIPPI, MHS4R2	uc003dwx.4	Q9NWB7	OTTHUMG00000159223	ENST00000264538.3:c.1045-1T>C	3.37:g.107882575A>G		Somatic		Capture	Illumina HiSeq	Phase_I	109365265	Q96DA9	Missense_Mutation	SNP	ENST00000264538.3	37	CCDS2951.1	.	.	.	.	.	.	.	.	.	.	A	18.82	3.705190	0.68615	.	.	ENSG00000114446	ENST00000264538	.	.	.	6.03	6.03	0.97812	.	0.047324	0.85682	D	0.000000	T	0.56411	0.1983	M	0.61703	1.905	0.46149	D	0.998891	P	0.37122	0.583	B	0.34038	0.174	T	0.61182	-0.7114	9	0.62326	D	0.03	.	16.227	0.82300	1.0:0.0:0.0:0.0	.	349	Q9NWB7	IFT57_HUMAN	A	349	.	ENSP00000264538:V349A	V	-	2	0	IFT57	109365265	1.000000	0.71417	1.000000	0.80357	0.892000	0.51952	7.771000	0.85420	2.302000	0.77476	0.533000	0.62120	GTT		IFT57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353918.1	NM_018010	Missense_Mutation
C3orf36	80111	hgsc.bcm.edu	37	3	133647422	133647422	+	Missense_Mutation	SNP	C	C	T			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr3:133647422C>T	ENST00000408895.2	-	1	1234	c.226G>A	c.(226-228)Gcg>Acg	p.A76T		NM_025041.2	NP_079317.2	Q3SXR2	CC036_HUMAN	chromosome 3 open reading frame 36	76										breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	6						GGGTGTGGCGCGGCCCACTCA	0.662																																																	0			3											29.0	33.0	32.0					3																	133647422		2203	4300	6503	135130112	SO:0001583	missense	80111			AK025826	CCDS3083.1	3q22.1	2011-09-30			ENSG00000221972	ENSG00000221972			26170	protein-coding gene	gene with protein product						12477932	Standard	NM_025041		Approved	FLJ22173	uc003epz.1	Q3SXR2		ENST00000408895.2:c.226G>A	3.37:g.133647422C>T	ENSP00000386219:p.Ala76Thr	Somatic		Capture	Illumina HiSeq	Phase_I	135130112	Q3SXR3|Q9H6K8	Missense_Mutation	SNP	ENST00000408895.2	37	CCDS3083.1	.	.	.	.	.	.	.	.	.	.	C	8.558	0.877092	0.17395	.	.	ENSG00000221972	ENST00000408895	.	.	.	2.06	-4.11	0.03928	.	.	.	.	.	T	0.14960	0.0361	N	0.08118	0	0.09310	N	1	B	0.10296	0.003	B	0.01281	0.0	T	0.12967	-1.0527	8	0.87932	D	0	.	2.5329	0.04707	0.1373:0.2494:0.4418:0.1716	.	76	Q3SXR2	CC036_HUMAN	T	76	.	ENSP00000386219:A76T	A	-	1	0	C3orf36	135130112	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-2.402000	0.01047	-2.918000	0.00305	-0.657000	0.03884	GCG		C3orf36-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_025041	
PLSCR5	389158	hgsc.bcm.edu	37	3	146309556	146309556	+	Missense_Mutation	SNP	A	A	C			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr3:146309556A>C	ENST00000443512.1	-	5	1569	c.566T>G	c.(565-567)aTt>aGt	p.I189S	PLSCR5_ENST00000482567.1_Missense_Mutation_p.I177S|PLSCR5-AS1_ENST00000473817.1_RNA|PLSCR5_ENST00000492200.1_Missense_Mutation_p.I189S	NM_001085420.1	NP_001078889.1	A0PG75	PLS5_HUMAN	phospholipid scramblase family, member 5	189										endometrium(1)|kidney(1)|large_intestine(2)|lung(7)|urinary_tract(1)	12						AGGACCAACAATTTTCAAAAT	0.383																																																	0			3											63.0	62.0	63.0					3																	146309556		1877	4110	5987	147792246	SO:0001583	missense	389158			AY436642	CCDS46931.1	3q24	2004-06-28			ENSG00000231213	ENSG00000231213			19952	protein-coding gene	gene with protein product							Standard	NM_001085420		Approved		uc010hvc.3	A0PG75	OTTHUMG00000159437	ENST00000443512.1:c.566T>G	3.37:g.146309556A>C	ENSP00000390111:p.Ile189Ser	Somatic		Capture	Illumina HiSeq	Phase_I	147792246	B2RXK5	Missense_Mutation	SNP	ENST00000443512.1	37	CCDS46931.1	.	.	.	.	.	.	.	.	.	.	A	17.17	3.320443	0.60634	.	.	ENSG00000231213	ENST00000492200;ENST00000482567;ENST00000443512	T;T;T	0.28454	1.61;1.61;1.61	5.68	4.51	0.55191	Tubby, C-terminal (1);	.	.	.	.	T	0.62901	0.2466	H	0.96943	3.91	0.40646	D	0.98199	P;D	0.53885	0.82;0.963	P;P	0.56916	0.543;0.809	T	0.75136	-0.3424	9	0.87932	D	0	-15.6736	12.0718	0.53620	0.8709:0.0:0.0:0.1291	.	177;189	B2RXK5;A0PG75	.;PLS5_HUMAN	S	189;177;189	ENSP00000417184:I189S;ENSP00000418626:I177S;ENSP00000390111:I189S	ENSP00000390111:I189S	I	-	2	0	PLSCR5	147792246	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.962000	0.93254	0.965000	0.38133	0.533000	0.62120	ATT		PLSCR5-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355365.1	XM_371670	
TRIM59	286827	hgsc.bcm.edu	37	3	160156353	160156353	+	Missense_Mutation	SNP	G	G	C			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr3:160156353G>C	ENST00000309784.4	-	3	804	c.619C>G	c.(619-621)Ctc>Gtc	p.L207V	RP11-432B6.3_ENST00000483754.1_Missense_Mutation_p.L207V|TRIM59_ENST00000543469.1_Missense_Mutation_p.L207V	NM_173084.2	NP_775107.1	Q8IWR1	TRI59_HUMAN	tripartite motif containing 59	207					innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of viral entry into host cell (GO:0046597)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(2)|lung(2)|ovary(1)|urinary_tract(3)	15			Lung(72;0.00334)|LUSC - Lung squamous cell carcinoma(72;0.00523)			ACATCACAGAGAGCCGTTAGG	0.353																																																	0			3											67.0	70.0	69.0					3																	160156353		2198	4298	6496	161639047	SO:0001583	missense	286827			AY159379	CCDS3190.1	3q26	2013-01-09	2011-01-25		ENSG00000213186	ENSG00000213186		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	30834	protein-coding gene	gene with protein product			"""tripartite motif-containing 57"", ""tripartite motif-containing 59"""	TRIM57		12095697	Standard	NM_173084		Approved	TSBF1, Mrf1, RNF104	uc003fdm.3	Q8IWR1	OTTHUMG00000159034	ENST00000309784.4:c.619C>G	3.37:g.160156353G>C	ENSP00000311219:p.Leu207Val	Somatic		Capture	Illumina HiSeq	Phase_I	161639047	A8K5G9|D3DNL9	Missense_Mutation	SNP	ENST00000309784.4	37	CCDS3190.1	.	.	.	.	.	.	.	.	.	.	G	15.73	2.920812	0.52653	.	.	ENSG00000213186	ENST00000543469;ENST00000309784	T;T	0.32988	1.68;1.43	5.62	4.56	0.56223	.	0.219424	0.39544	N	0.001326	T	0.50599	0.1625	M	0.64404	1.975	0.38815	D	0.955519	D	0.89917	1.0	D	0.83275	0.996	T	0.49615	-0.8921	9	.	.	.	-10.3081	13.1792	0.59645	0.1315:0.0:0.8685:0.0	.	207	Q8IWR1	TRI59_HUMAN	V	207	ENSP00000444313:L207V;ENSP00000311219:L207V	.	L	-	1	0	TRIM59	161639047	0.997000	0.39634	0.998000	0.56505	0.802000	0.45316	1.174000	0.31932	2.648000	0.89879	0.561000	0.74099	CTC		TRIM59-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352963.1	NM_173084	
WDR49	151790	hgsc.bcm.edu	37	3	167248970	167248970	+	Silent	SNP	G	G	A			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr3:167248970G>A	ENST00000308378.3	-	9	1400	c.1095C>T	c.(1093-1095)gaC>gaT	p.D365D	WDR49_ENST00000476376.1_Silent_p.D190D|WDR49_ENST00000453925.2_Silent_p.D429D|WDR49_ENST00000479765.1_Intron	NM_178824.3	NP_849146.1	Q8IV35	WDR49_HUMAN	WD repeat domain 49	365										breast(1)|endometrium(1)|kidney(1)|large_intestine(8)|lung(28)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(3)|urinary_tract(2)	50						TGCCCTCAGTGTCAATCTCAA	0.413																																																	0			3											89.0	92.0	91.0					3																	167248970		2203	4300	6503	168731664	SO:0001819	synonymous_variant	151790			AK097556	CCDS3201.1	3q26.1	2013-01-11			ENSG00000174776	ENSG00000174776		"""WD repeat domain containing"""	26587	protein-coding gene	gene with protein product						12477932	Standard	NM_178824		Approved	FLJ33620	uc003fev.1	Q8IV35	OTTHUMG00000158290	ENST00000308378.3:c.1095C>T	3.37:g.167248970G>A		Somatic		Capture	Illumina HiSeq	Phase_I	168731664	Q8N297	Silent	SNP	ENST00000308378.3	37	CCDS3201.1	.	.	.	.	.	.	.	.	.	.	G	4.062	0.009325	0.07912	.	.	ENSG00000174776	ENST00000472600;ENST00000493061	.	.	.	5.68	3.9	0.45041	.	.	.	.	.	T	0.39226	0.1070	.	.	.	0.26631	N	0.972463	.	.	.	.	.	.	T	0.21314	-1.0249	4	.	.	.	.	10.4137	0.44309	0.1587:0.0:0.8413:0.0	.	.	.	.	I	441;3	.	.	T	-	2	0	WDR49	168731664	0.962000	0.33011	0.010000	0.14722	0.063000	0.16089	2.088000	0.41663	0.781000	0.33589	0.650000	0.86243	ACA		WDR49-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000350592.3	NM_178824	
PIK3CA	5290	hgsc.bcm.edu	37	3	178941879	178941879	+	Missense_Mutation	SNP	A	A	G	rs181194055	byFrequency	TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr3:178941879A>G	ENST00000263967.3	+	15	2355	c.2198A>G	c.(2197-2199)aAg>aGg	p.K733R		NM_006218.2	NP_006209.2	P42336	PK3CA_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit alpha	733					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)	p.K733R(1)		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)	GTACAGATGAAGTTTTTAGTT	0.383		57	Mis		"""colorectal, gastric, gliobastoma, breast"""					HNSCC(19;0.045)|TSP Lung(28;0.18)			A|||	4	0.000798722	0.0	0.0	5008	,	,		17323	0.004		0.0	False		,,,				2504	0.0				Colon(199;1504 1750 3362 26421 31210 32040)			Dom	yes		3	3q26.3	5290	"""phosphoinositide-3-kinase, catalytic, alpha polypeptide"""		"""E, O"""	1	Substitution - Missense(1)	large_intestine(1)	3											131.0	117.0	121.0					3																	178941879		1817	4083	5900	180424573	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.2198A>G	3.37:g.178941879A>G	ENSP00000263967:p.Lys733Arg	Somatic		Capture	Illumina HiSeq	Phase_I	180424573	Q14CW1|Q99762	Missense_Mutation	SNP	ENST00000263967.3	37	CCDS43171.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	A	17.47	3.397526	0.62177	.	.	ENSG00000121879	ENST00000263967	T	0.81330	-1.48	6.02	6.02	0.97574	Protein kinase-like domain (1);	0.111337	0.64402	D	0.000005	T	0.78091	0.4229	L	0.60455	1.87	0.80722	D	1	B	0.09022	0.002	B	0.08055	0.003	T	0.72239	-0.4351	10	0.27082	T	0.32	-18.203	16.542	0.84395	1.0:0.0:0.0:0.0	.	733	P42336	PK3CA_HUMAN	R	733	ENSP00000263967:K733R	ENSP00000263967:K733R	K	+	2	0	PIK3CA	180424573	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.890000	0.63178	2.304000	0.77564	0.528000	0.53228	AAG		PIK3CA-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000348409.2		
WNT5B	81029	hgsc.bcm.edu	37	12	1755211	1755211	+	Silent	SNP	C	C	T			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr12:1755211C>T	ENST00000397196.2	+	5	1105	c.873C>T	c.(871-873)aaC>aaT	p.N291N	WNT5B_ENST00000545747.1_3'UTR|WNT5B_ENST00000310594.3_Silent_p.N291N|WNT5B_ENST00000537031.1_Silent_p.N291N	NM_032642.2	NP_116031.1	Q9H1J7	WNT5B_HUMAN	wingless-type MMTV integration site family, member 5B	291					cell fate commitment (GO:0045165)|cellular response to retinoic acid (GO:0071300)|chondrocyte differentiation (GO:0002062)|fat cell differentiation (GO:0045444)|lens fiber cell development (GO:0070307)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|neuron differentiation (GO:0030182)|positive regulation of cell migration (GO:0030335)|positive regulation of fat cell differentiation (GO:0045600)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cell surface (GO:0009986)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi lumen (GO:0005796)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	frizzled binding (GO:0005109)|receptor binding (GO:0005102)			skin(1)	1	Ovarian(42;0.107)		OV - Ovarian serous cystadenocarcinoma(31;0.00109)			GCCTGCGCAACGAGAGCACGG	0.682																																																	0			12											47.0	49.0	48.0					12																	1755211		2203	4299	6502	1625472	SO:0001819	synonymous_variant	81029			AB060966	CCDS8510.1	12p13.3	2008-07-07			ENSG00000111186	ENSG00000111186		"""Wingless-type MMTV integration sites"""	16265	protein-coding gene	gene with protein product		606361				11445850	Standard	NM_030775		Approved		uc001qjk.3	Q9H1J7	OTTHUMG00000090375	ENST00000397196.2:c.873C>T	12.37:g.1755211C>T		Somatic		Capture	Illumina HiSeq	Phase_I	1625472	A8K315|D3DUP9|Q96S49|Q9BV04	Silent	SNP	ENST00000397196.2	37	CCDS8510.1																																																																																				WNT5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206747.2		
KMT2D	8085	hgsc.bcm.edu	37	12	49435156	49435156	+	Missense_Mutation	SNP	C	C	T			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr12:49435156C>T	ENST00000301067.7	-	31	6396	c.6397G>A	c.(6397-6399)Gcc>Acc	p.A2133T		NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	2133	Pro-rich.				chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)										GACAAGCCGGCGGGGGTAGTG	0.701																																																	0			12											7.0	10.0	9.0					12																	49435156		1744	3939	5683	47721423	SO:0001583	missense	9757			AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.6397G>A	12.37:g.49435156C>T	ENSP00000301067:p.Ala2133Thr	Somatic		Capture	Illumina HiSeq	Phase_I	47721423	O14687	Missense_Mutation	SNP	ENST00000301067.7	37	CCDS44873.1	.	.	.	.	.	.	.	.	.	.	C	9.348	1.064717	0.20067	.	.	ENSG00000167548	ENST00000301067	T	0.79749	-1.3	3.83	3.83	0.44106	.	0.000000	0.32769	N	0.005666	T	0.60025	0.2237	N	0.08118	0	0.28096	N	0.931616	B	0.30709	0.291	B	0.17979	0.02	T	0.61997	-0.6947	10	0.87932	D	0	.	10.9327	0.47228	0.1881:0.8119:0.0:0.0	.	2133	O14686	MLL2_HUMAN	T	2133	ENSP00000301067:A2133T	ENSP00000301067:A2133T	A	-	1	0	MLL2	47721423	0.976000	0.34144	1.000000	0.80357	0.911000	0.54048	1.924000	0.40065	2.432000	0.82394	0.561000	0.74099	GCC		KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2		
KRT3	3850	hgsc.bcm.edu	37	12	53183951	53183951	+	Missense_Mutation	SNP	C	C	T	rs570613061|rs60125653	byFrequency	TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr12:53183951C>T	ENST00000417996.2	-	9	1836	c.1762G>A	c.(1762-1764)Ggc>Agc	p.G588S	KRT3_ENST00000309505.3_Missense_Mutation_p.G589S	NM_057088.2	NP_476429.2	P12035	K2C3_HUMAN	keratin 3	588	Gly-rich.|Tail.				epithelial cell differentiation (GO:0030855)|intermediate filament cytoskeleton organization (GO:0045104)	extracellular vesicular exosome (GO:0070062)|intermediate filament (GO:0005882)|keratin filament (GO:0045095)	structural molecule activity (GO:0005198)			NS(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(8)|prostate(2)|skin(1)	23						GAGCCAAAgccgctgccaccg	0.697																																																	0			12											14.0	31.0	25.0					12																	53183951		1574	3123	4697	51470218	SO:0001583	missense	3850				CCDS44895.1	12q13.13	2013-01-16			ENSG00000186442	ENSG00000186442		"""-"", ""Intermediate filaments type II, keratins (basic)"""	6440	protein-coding gene	gene with protein product	"""keratin, type II cytoskeletal 3"", ""cytokeratin 3"""	148043				7510223, 16831889	Standard	NM_057088		Approved	CK3, K3	uc001say.3	P12035	OTTHUMG00000169799	ENST00000417996.2:c.1762G>A	12.37:g.53183951C>T	ENSP00000413479:p.Gly588Ser	Somatic		Capture	Illumina HiSeq	Phase_I	51470218	A6NIS2|Q701L8	Missense_Mutation	SNP	ENST00000417996.2	37	CCDS44895.1	.	.	.	.	.	.	.	.	.	.	C	13.67	2.307617	0.40795	.	.	ENSG00000186442	ENST00000417996;ENST00000309505	D;D	0.91351	-2.83;-2.83	3.4	-1.34	0.09143	.	0.507655	0.14827	N	0.296110	T	0.80149	0.4570	N	0.22421	0.69	0.09310	N	1	B	0.18166	0.026	B	0.08055	0.003	T	0.65302	-0.6201	10	0.34782	T	0.22	.	7.4497	0.27231	0.0:0.4872:0.0:0.5128	.	588	P12035	K2C3_HUMAN	S	588;589	ENSP00000413479:G588S;ENSP00000312206:G589S	ENSP00000312206:G589S	G	-	1	0	KRT3	51470218	0.000000	0.05858	0.005000	0.12908	0.008000	0.06430	-1.682000	0.01935	-0.284000	0.09102	-0.258000	0.10820	GGC		KRT3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000405930.1	NM_057088	
CRY1	1407	hgsc.bcm.edu	37	12	107386774	107386774	+	Silent	SNP	G	G	A			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr12:107386774G>A	ENST00000008527.5	-	11	2493	c.1626C>T	c.(1624-1626)ggC>ggT	p.G542G		NM_004075.4	NP_004066.1	Q16526	CRY1_HUMAN	cryptochrome circadian clock 1	542					blue light signaling pathway (GO:0009785)|circadian regulation of gene expression (GO:0032922)|DNA damage induced protein phosphorylation (GO:0006975)|DNA repair (GO:0006281)|entrainment of circadian clock by photoperiod (GO:0043153)|gluconeogenesis (GO:0006094)|glucose homeostasis (GO:0042593)|lipid storage (GO:0019915)|negative regulation of circadian rhythm (GO:0042754)|negative regulation of G-protein coupled receptor protein signaling pathway (GO:0045744)|negative regulation of glucocorticoid receptor signaling pathway (GO:2000323)|negative regulation of glucocorticoid secretion (GO:2000850)|negative regulation of protein ubiquitination (GO:0031397)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|protein-chromophore linkage (GO:0018298)|regulation of circadian rhythm (GO:0042752)|regulation of DNA damage checkpoint (GO:2000001)|response to glucagon (GO:0033762)|response to insulin (GO:0032868)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	blue light photoreceptor activity (GO:0009882)|core promoter binding (GO:0001047)|DNA binding (GO:0003677)|DNA photolyase activity (GO:0003913)|double-stranded DNA binding (GO:0003690)|nuclear hormone receptor binding (GO:0035257)|nucleotide binding (GO:0000166)|phosphatase binding (GO:0019902)|transcription factor binding transcription factor activity (GO:0000989)|ubiquitin binding (GO:0043130)	p.G542G(1)		NS(2)|breast(2)|central_nervous_system(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(11)|ovary(3)|skin(1)	29						GCTGACTGTCGCCATGAGCAT	0.333																																																	1	Substitution - coding silent(1)	large_intestine(1)	12											101.0	87.0	92.0					12																	107386774		2203	4300	6503	105910904	SO:0001819	synonymous_variant	1407			BC030519	CCDS9112.1	12q23-q24.1	2014-01-17	2014-01-17		ENSG00000008405	ENSG00000008405			2384	protein-coding gene	gene with protein product		601933	"""cryptochrome 1 (photolyase-like)"""	PHLL1		8921389	Standard	NM_004075		Approved		uc001tmi.4	Q16526	OTTHUMG00000170005	ENST00000008527.5:c.1626C>T	12.37:g.107386774G>A		Somatic		Capture	Illumina HiSeq	Phase_I	105910904		Silent	SNP	ENST00000008527.5	37	CCDS9112.1																																																																																				CRY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406827.1	NM_004075	
PTPN11	5781	hgsc.bcm.edu	37	12	112926901	112926901	+	Silent	SNP	A	A	G	rs374285143		TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr12:112926901A>G	ENST00000351677.2	+	13	1719	c.1521A>G	c.(1519-1521)acA>acG	p.T507T		NM_002834.3	NP_002825.3	Q06124	PTN11_HUMAN	protein tyrosine phosphatase, non-receptor type 11	511	Tyrosine-protein phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00160}.		G -> A (in JMML). {ECO:0000269|PubMed:12717436}.|G -> R (in patients with growth retardation, pulmonic stenosis and juvenile myelomonocytic leukemia). {ECO:0000269|PubMed:12717436, ECO:0000269|PubMed:12960218}.		abortive mitotic cell cycle (GO:0033277)|activation of MAPK activity (GO:0000187)|atrioventricular canal development (GO:0036302)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|brain development (GO:0007420)|cytokine-mediated signaling pathway (GO:0019221)|DNA damage checkpoint (GO:0000077)|ephrin receptor signaling pathway (GO:0048013)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERBB signaling pathway (GO:0038127)|face morphogenesis (GO:0060325)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|genitalia development (GO:0048806)|glucose homeostasis (GO:0042593)|heart development (GO:0007507)|hormone metabolic process (GO:0042445)|hormone-mediated signaling pathway (GO:0009755)|innate immune response (GO:0045087)|inner ear development (GO:0048839)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|interferon-gamma-mediated signaling pathway (GO:0060333)|leukocyte migration (GO:0050900)|megakaryocyte development (GO:0035855)|multicellular organismal reproductive process (GO:0048609)|negative regulation of cell adhesion mediated by integrin (GO:0033629)|negative regulation of cortisol secretion (GO:0051463)|negative regulation of growth hormone secretion (GO:0060125)|negative regulation of insulin secretion (GO:0046676)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ growth (GO:0035265)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet formation (GO:0030220)|positive regulation of glucose import in response to insulin stimulus (GO:2001275)|positive regulation of hormone secretion (GO:0046887)|regulation of cell adhesion mediated by integrin (GO:0033628)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|regulation of multicellular organism growth (GO:0040014)|regulation of protein export from nucleus (GO:0046825)|regulation of type I interferon-mediated signaling pathway (GO:0060338)|T cell costimulation (GO:0031295)|triglyceride metabolic process (GO:0006641)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|protein complex (GO:0043234)	insulin receptor binding (GO:0005158)|non-membrane spanning protein tyrosine phosphatase activity (GO:0004726)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|SH3/SH2 adaptor activity (GO:0005070)			NS(1)|autonomic_ganglia(2)|breast(1)|central_nervous_system(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(406)|kidney(2)|large_intestine(6)|lung(16)|ovary(1)|skin(1)|soft_tissue(3)|stomach(3)	451						TGGTCCAGACAGAAGCACAGT	0.478			Mis		"""JMML, AML, MDS"""		Noonan Syndrome		Noonan syndrome																															Dom	yes		12	12q24.1	5781	"""protein tyrosine phosphatase, non-receptor type 11"""	yes	L	0			12						A		1,4405	2.1+/-5.4	0,1,2202	180.0	169.0	173.0		1521	-5.9	1.0	12		173	0,8600		0,0,4300	no	coding-synonymous	PTPN11	NM_002834.3		0,1,6502	GG,GA,AA		0.0,0.0227,0.0077		507/594	112926901	1,13005	2203	4300	6503	111411284	SO:0001819	synonymous_variant	5781	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	D13540	CCDS9163.1, CCDS58280.1	12q24.1	2014-09-17	2008-07-31		ENSG00000179295	ENSG00000179295		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Non-receptor"", ""SH2 domain containing"""	9644	protein-coding gene	gene with protein product		176876	"""Noonan syndrome 1"""	NS1		7894486, 1280823	Standard	NM_080601		Approved	BPTP3, SH-PTP2, SHP-2, PTP2C, SHP2	uc001ttx.3	Q06124	OTTHUMG00000134334	ENST00000351677.2:c.1521A>G	12.37:g.112926901A>G		Somatic		Capture	Illumina HiSeq	Phase_I	111411284	A8K1D9|Q96HD7	Silent	SNP	ENST00000351677.2	37	CCDS9163.1																																																																																				PTPN11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259496.2		
DNAH10	196385	hgsc.bcm.edu	37	12	124297818	124297818	+	Silent	SNP	T	T	C			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr12:124297818T>C	ENST00000409039.3	+	19	2923	c.2898T>C	c.(2896-2898)ccT>ccC	p.P966P		NM_207437.3	NP_997320.2	Q8IVF4	DYH10_HUMAN	dynein, axonemal, heavy chain 10	966	Stem. {ECO:0000250}.				microtubule-based movement (GO:0007018)	cilium (GO:0005929)|cytoplasm (GO:0005737)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)	p.P784P(1)		breast(1)|central_nervous_system(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	52	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;0.000207)|Epithelial(86;0.000556)|all cancers(50;0.00346)		CTCTGAACCCTCAGATAATTG	0.408																																																	1	Substitution - coding silent(1)	ovary(1)	12											95.0	96.0	95.0					12																	124297818		2203	4300	6503	122863771	SO:0001819	synonymous_variant	196385			AJ132089	CCDS9255.2	12q24	2008-02-05	2006-09-04		ENSG00000197653	ENSG00000197653		"""Axonemal dyneins"""	2941	protein-coding gene	gene with protein product		605884	"""dynein, axonemal, heavy polypeptide 10"""				Standard	NM_207437		Approved	FLJ43808	uc001uft.4	Q8IVF4	OTTHUMG00000154477	ENST00000409039.3:c.2898T>C	12.37:g.124297818T>C		Somatic		Capture	Illumina HiSeq	Phase_I	122863771	C9JMF5|O95495|Q6ZUC9|Q6ZUP6|Q8N761	Silent	SNP	ENST00000409039.3	37	CCDS9255.2																																																																																				DNAH10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335420.3		
NCOR2	9612	hgsc.bcm.edu	37	12	124821373	124821373	+	Missense_Mutation	SNP	G	G	A			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr12:124821373G>A	ENST00000405201.1	-	38	6041	c.6041C>T	c.(6040-6042)tCg>tTg	p.S2014L	NCOR2_ENST00000404621.1_Missense_Mutation_p.S2004L|NCOR2_ENST00000404121.2_Missense_Mutation_p.S1575L|NCOR2_ENST00000356219.3_Missense_Mutation_p.S2021L|NCOR2_ENST00000429285.2_Missense_Mutation_p.S2004L|NCOR2_ENST00000397355.1_Missense_Mutation_p.S2005L			Q9Y618	NCOR2_HUMAN	nuclear receptor corepressor 2	2025					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)		GTCCGAGGCCGAGGCAGGTGG	0.652																																																	0			12											37.0	44.0	42.0					12																	124821373		1976	4140	6116	123387326	SO:0001583	missense	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.6041C>T	12.37:g.124821373G>A	ENSP00000384018:p.Ser2014Leu	Somatic		Capture	Illumina HiSeq	Phase_I	123387326	O00613|O15416|O15421|Q13354|Q56D06|Q59GM0|Q9Y5U0	Missense_Mutation	SNP	ENST00000405201.1	37	CCDS41858.2	.	.	.	.	.	.	.	.	.	.	g	12.34	1.909207	0.33721	.	.	ENSG00000196498	ENST00000405201;ENST00000404621;ENST00000356219;ENST00000397355;ENST00000447011;ENST00000404121;ENST00000447675;ENST00000429285	T;T;T;T;T;T	0.19105	2.17;2.44;2.18;2.44;2.18;2.44	4.5	3.54	0.40534	.	0.748718	0.12560	N	0.458298	T	0.20981	0.0505	N	0.24115	0.695	0.27039	N	0.964068	D;D;D	0.63880	0.984;0.993;0.987	P;P;B	0.48840	0.493;0.592;0.388	T	0.07966	-1.0745	10	0.44086	T	0.13	-9.9789	13.848	0.63479	0.0:0.154:0.8459:0.0	.	2005;2014;2025	C9J239;C9JFD3;Q9Y618	.;.;NCOR2_HUMAN	L	2014;2004;2021;2005;2013;1575;106;2004	ENSP00000384018:S2014L;ENSP00000384202:S2004L;ENSP00000348551:S2021L;ENSP00000380513:S2005L;ENSP00000385618:S1575L;ENSP00000400281:S2004L	ENSP00000348551:S2021L	S	-	2	0	NCOR2	123387326	0.997000	0.39634	0.712000	0.30502	0.131000	0.20780	3.242000	0.51384	2.041000	0.60428	0.556000	0.70494	TCG		NCOR2-005	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000318173.2	NM_006312	
FAM227B	196951	hgsc.bcm.edu	37	15	49834000	49834000	+	Missense_Mutation	SNP	A	A	G			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr15:49834000A>G	ENST00000299338.6	-	10	1054	c.751T>C	c.(751-753)Tat>Cat	p.Y251H	FAM227B_ENST00000561064.1_Missense_Mutation_p.Y217H	NM_152647.2	NP_689860.2	Q96M60	F227B_HUMAN	family with sequence similarity 227, member B	251																	CAATCAGGATATATCTACCaa	0.274																																																	0			15											54.0	57.0	56.0					15																	49834000		2193	4287	6480	47621292	SO:0001583	missense	196951				CCDS32237.1	15q21.2	2012-07-04	2012-07-04	2012-07-04	ENSG00000166262	ENSG00000166262			26543	protein-coding gene	gene with protein product			"""chromosome 15 open reading frame 33"""	C15orf33			Standard	NM_152647		Approved	FLJ32800	uc001zxl.2	Q96M60	OTTHUMG00000172328	ENST00000299338.6:c.751T>C	15.37:g.49834000A>G	ENSP00000299338:p.Tyr251His	Somatic		Capture	Illumina HiSeq	Phase_I	47621292	Q86WS2	Missense_Mutation	SNP	ENST00000299338.6	37	CCDS32237.1	.	.	.	.	.	.	.	.	.	.	A	20.5	4.007478	0.75046	.	.	ENSG00000166262	ENST00000299338;ENST00000354658	.	.	.	5.7	5.7	0.88788	.	0.000000	0.49305	D	0.000151	T	0.78748	0.4332	M	0.77103	2.36	0.80722	D	1	D;D	0.69078	0.997;0.997	D;D	0.68483	0.958;0.91	T	0.81765	-0.0783	9	0.87932	D	0	-1.2206	14.9375	0.70967	1.0:0.0:0.0:0.0	.	217;251	Q96M60-2;Q96M60	.;CO033_HUMAN	H	251;217	.	ENSP00000299338:Y251H	Y	-	1	0	C15orf33	47621292	1.000000	0.71417	0.860000	0.33809	0.957000	0.61999	5.930000	0.70104	2.165000	0.68154	0.523000	0.50628	TAT		FAM227B-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417872.1	NM_152647	
HERC1	8925	hgsc.bcm.edu	37	15	63940272	63940272	+	Missense_Mutation	SNP	T	T	C			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr15:63940272T>C	ENST00000443617.2	-	55	10961	c.10874A>G	c.(10873-10875)cAt>cGt	p.H3625R		NM_003922.3	NP_003913.3	Q15751	HERC1_HUMAN	HECT and RLD domain containing E3 ubiquitin protein ligase family member 1	3625					cerebellar Purkinje cell differentiation (GO:0021702)|negative regulation of autophagy (GO:0010507)|neuromuscular process controlling balance (GO:0050885)|neuron projection development (GO:0031175)|positive regulation of GTPase activity (GO:0043547)|transport (GO:0006810)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			NS(3)|breast(9)|central_nervous_system(4)|endometrium(23)|haematopoietic_and_lymphoid_tissue(1)|kidney(12)|large_intestine(22)|liver(1)|lung(36)|ovary(7)|prostate(4)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	132						ATTTACCTTATGTGCATCAAT	0.338																																																	0			15											81.0	67.0	71.0					15																	63940272		1847	4072	5919	61727325	SO:0001583	missense	8925			U50078	CCDS45277.1	15q22	2013-01-10	2012-02-23			ENSG00000103657		"""WD repeat domain containing"""	4867	protein-coding gene	gene with protein product		605109	"""hect (homologous to the E6-AP (UBE3A) carboxyl terminus) domain and RCC1 (CHC1)-like domain (RLD) 1"""			8861955, 9233772	Standard	NM_003922		Approved	p532, p619	uc002amp.3	Q15751		ENST00000443617.2:c.10874A>G	15.37:g.63940272T>C	ENSP00000390158:p.His3625Arg	Somatic		Capture	Illumina HiSeq	Phase_I	61727325	Q8IW65	Missense_Mutation	SNP	ENST00000443617.2	37	CCDS45277.1	.	.	.	.	.	.	.	.	.	.	T	18.53	3.643944	0.67244	.	.	ENSG00000103657	ENST00000443617	T	0.81163	-1.46	5.67	5.67	0.87782	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.066712	0.64402	U	0.000019	D	0.87509	0.6195	M	0.93283	3.4	0.80722	D	1	P	0.35208	0.49	B	0.39771	0.309	D	0.89231	0.3577	10	0.66056	D	0.02	.	15.8998	0.79365	0.0:0.0:0.0:1.0	.	3625	Q15751	HERC1_HUMAN	R	3625	ENSP00000390158:H3625R	ENSP00000390158:H3625R	H	-	2	0	HERC1	61727325	1.000000	0.71417	1.000000	0.80357	0.409000	0.31022	7.636000	0.83301	2.165000	0.68154	0.260000	0.18958	CAT		HERC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418523.1	NM_003922	
MAN2C1	4123	hgsc.bcm.edu	37	15	75648559	75648559	+	Splice_Site	SNP	G	G	A			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr15:75648559G>A	ENST00000267978.5	-	25	2934	c.2888C>T	c.(2887-2889)gCg>gTg	p.A963V	MAN2C1_ENST00000565683.1_Splice_Site_p.A980V|MIR631_ENST00000384904.1_RNA|MAN2C1_ENST00000569482.1_Splice_Site_p.A940V|RP11-817O13.6_ENST00000563660.1_lincRNA|MAN2C1_ENST00000563622.1_Splice_Site_p.A864V	NM_006715.3	NP_006706.2	Q9NTJ4	MA2C1_HUMAN	mannosidase, alpha, class 2C, member 1	963					mannose metabolic process (GO:0006013)		alpha-mannosidase activity (GO:0004559)|carbohydrate binding (GO:0030246)|zinc ion binding (GO:0008270)			central_nervous_system(4)|endometrium(4)|kidney(6)|large_intestine(6)|lung(20)|prostate(1)|stomach(1)|upper_aerodigestive_tract(2)	44						GCTGCTCTCCGCCTGCAGAGG	0.687																																																	0			15											20.0	21.0	21.0					15																	75648559		2193	4286	6479	73435612	SO:0001630	splice_region_variant	4123			AF044414	CCDS32298.1, CCDS58389.1, CCDS58390.1, CCDS58391.1	15q24.2	2013-09-19			ENSG00000140400	ENSG00000140400	3.2.1.24		6827	protein-coding gene	gene with protein product		154580		MANA1, MANA		1757461, 752528	Standard	NM_006715		Approved		uc002bah.4	Q9NTJ4	OTTHUMG00000172698	ENST00000267978.5:c.2887-1C>T	15.37:g.75648559G>A		Somatic		Capture	Illumina HiSeq	Phase_I	73435612	H3BMX2|H3BQY8|H3BUT6|Q13358|Q68EM8|Q9UL64	Missense_Mutation	SNP	ENST00000267978.5	37	CCDS32298.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.044969	0.75846	.	.	ENSG00000140400	ENST00000267978	D	0.82619	-1.63	4.54	4.54	0.55810	Glycosyl hydrolases 38, C-terminal (1);Glycoside hydrolase-type carbohydrate-binding (1);	0.165226	0.52532	N	0.000061	D	0.92163	0.7515	M	0.89478	3.035	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.998;0.987	D	0.93602	0.6931	10	0.72032	D	0.01	-11.3511	16.0095	0.80391	0.0:0.0:1.0:0.0	.	940;963	Q68EM8;Q9NTJ4	.;MA2C1_HUMAN	V	963	ENSP00000267978:A963V	ENSP00000267978:A963V	A	-	2	0	MAN2C1	73435612	1.000000	0.71417	0.927000	0.36925	0.119000	0.20118	6.926000	0.75835	2.376000	0.81061	0.462000	0.41574	GCG		MAN2C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419965.1		Missense_Mutation
SCAPER	49855	hgsc.bcm.edu	37	15	76995212	76995212	+	Silent	SNP	C	C	T			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr15:76995212C>T	ENST00000563290.1	-	19	2474	c.2379G>A	c.(2377-2379)caG>caA	p.Q793Q	SCAPER_ENST00000324767.7_Silent_p.Q793Q|SCAPER_ENST00000538941.2_Silent_p.Q547Q			Q9BY12	SCAPE_HUMAN	S-phase cyclin A-associated protein in the ER	793						endoplasmic reticulum (GO:0005783)|nucleus (GO:0005634)	metal ion binding (GO:0046872)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(16)|ovary(2)|prostate(2)|skin(1)|urinary_tract(2)	39						AGAGAGAACACTGCTTCTTTC	0.368																																																	0			15											116.0	116.0	116.0					15																	76995212		1870	4099	5969	74782267	SO:0001819	synonymous_variant	49855			AB040887, AF242528	CCDS53961.1, CCDS53962.1	15q24.3	2012-10-05	2009-03-11	2007-08-20	ENSG00000140386	ENSG00000140386		"""Zinc fingers, C2H2-type"""	13081	protein-coding gene	gene with protein product		611611	"""zinc finger protein 291"""	ZNF291		17698606	Standard	NM_020843		Approved	Zfp291	uc002bby.3	Q9BY12	OTTHUMG00000172655	ENST00000563290.1:c.2379G>A	15.37:g.76995212C>T		Somatic		Capture	Illumina HiSeq	Phase_I	74782267	F5H7X8|H3BNR7|Q3B7X7|Q96BS9|Q9H3D8|Q9NT03|Q9P274	Silent	SNP	ENST00000563290.1	37	CCDS53962.1																																																																																				SCAPER-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419698.1	NM_020843	
NTRK3	4916	hgsc.bcm.edu	37	15	88678529	88678529	+	Missense_Mutation	SNP	A	A	G			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr15:88678529A>G	ENST00000360948.2	-	9	1168	c.1007T>C	c.(1006-1008)cTg>cCg	p.L336P	NTRK3_ENST00000357724.2_Missense_Mutation_p.L336P|NTRK3_ENST00000558676.1_Missense_Mutation_p.L336P|NTRK3_ENST00000557856.1_Missense_Mutation_p.L336P|NTRK3_ENST00000355254.2_Missense_Mutation_p.L336P|NTRK3_ENST00000540489.2_Missense_Mutation_p.L336P|NTRK3_ENST00000394480.2_Missense_Mutation_p.L336P|NTRK3_ENST00000542733.2_Missense_Mutation_p.L238P|NTRK3_ENST00000317501.3_Missense_Mutation_p.L336P	NM_001012338.2	NP_001012338.1	Q16288	NTRK3_HUMAN	neurotrophic tyrosine kinase, receptor, type 3	336	Ig-like C2-type 2.		L -> Q (in a lung adenocarcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		activation of MAPK activity (GO:0000187)|activation of protein kinase B activity (GO:0032148)|activation of Ras GTPase activity (GO:0032856)|cellular response to retinoic acid (GO:0071300)|circadian rhythm (GO:0007623)|cochlea development (GO:0090102)|lens fiber cell differentiation (GO:0070306)|mechanoreceptor differentiation (GO:0042490)|modulation by virus of host transcription (GO:0019056)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell death (GO:0060548)|negative regulation of protein phosphorylation (GO:0001933)|neuron fate specification (GO:0048665)|neuron migration (GO:0001764)|neurotrophin signaling pathway (GO:0038179)|positive regulation of actin cytoskeleton reorganization (GO:2000251)|positive regulation of axon extension involved in regeneration (GO:0048691)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of positive chemotaxis (GO:0050927)|protein autophosphorylation (GO:0046777)|response to axon injury (GO:0048678)|response to corticosterone (GO:0051412)|response to ethanol (GO:0045471)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|neurotrophin binding (GO:0043121)|neurotrophin receptor activity (GO:0005030)|p53 binding (GO:0002039)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.L336Q(2)	ETV6/NTRK3(238)	breast(3)|central_nervous_system(3)|endometrium(6)|kidney(1)|large_intestine(22)|lung(63)|ovary(6)|pancreas(3)|prostate(1)|skin(4)|stomach(5)|upper_aerodigestive_tract(2)	119			BRCA - Breast invasive adenocarcinoma(143;0.211)			CCCATTGTGCAGCCAGTGCAG	0.607			T	ETV6	"""congenital fibrosarcoma, Secretory breast """					TSP Lung(13;0.10)																														Dom	yes		15	15q25	4916	"""neurotrophic tyrosine kinase, receptor, type 3"""		"""E, M"""	2	Substitution - Missense(2)	lung(2)	15											82.0	84.0	83.0					15																	88678529		2201	4299	6500	86479533	SO:0001583	missense	4916			U05012	CCDS10340.1, CCDS32322.1, CCDS32323.1, CCDS58399.1	15q24-q25	2013-01-11			ENSG00000140538	ENSG00000140538	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"""	8033	protein-coding gene	gene with protein product		191316				7806211	Standard	NM_001012338		Approved	TRKC	uc002bme.2	Q16288	OTTHUMG00000148677	ENST00000360948.2:c.1007T>C	15.37:g.88678529A>G	ENSP00000354207:p.Leu336Pro	Somatic		Capture	Illumina HiSeq	Phase_I	86479533	B7Z4C5|E9PG56|H0YND1|O75682|Q12827|Q16289	Missense_Mutation	SNP	ENST00000360948.2	37	CCDS32322.1	.	.	.	.	.	.	.	.	.	.	A	19.60	3.858573	0.71834	.	.	ENSG00000140538	ENST00000394480;ENST00000360948;ENST00000357724;ENST00000355254;ENST00000542733;ENST00000540489;ENST00000317501	T;T;T;T;T;T;T	0.74315	-0.83;-0.83;-0.83;-0.83;-0.83;-0.83;-0.83	5.28	5.28	0.74379	Immunoglobulin I-set (1);Immunoglobulin-like fold (1);	0.223524	0.40222	N	0.001151	D	0.89767	0.6810	H	0.95816	3.725	0.80722	D	1	D;D;P;D;D;P	0.89917	0.997;0.966;0.956;1.0;0.967;0.956	D;P;D;D;P;D	0.72338	0.93;0.77;0.936;0.977;0.73;0.936	D	0.92618	0.6105	10	0.72032	D	0.01	.	14.4172	0.67158	1.0:0.0:0.0:0.0	.	238;336;336;336;336;336	B7Z7U4;E9PG56;B7Z4C5;Q96CY4;Q16288-3;Q16288	.;.;.;.;.;NTRK3_HUMAN	P	336;336;336;336;238;336;336	ENSP00000377990:L336P;ENSP00000354207:L336P;ENSP00000350356:L336P;ENSP00000347397:L336P;ENSP00000437773:L238P;ENSP00000444673:L336P;ENSP00000318328:L336P	ENSP00000318328:L336P	L	-	2	0	NTRK3	86479533	1.000000	0.71417	1.000000	0.80357	0.937000	0.57800	6.874000	0.75546	1.988000	0.58038	0.460000	0.39030	CTG		NTRK3-204	KNOWN	basic|CCDS	protein_coding	protein_coding			
MXRA5	25878	hgsc.bcm.edu	37	X	3235844	3235844	+	Missense_Mutation	SNP	C	C	T			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chrX:3235844C>T	ENST00000217939.6	-	6	6032	c.5878G>A	c.(5878-5880)Gtc>Atc	p.V1960I		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1960	Ig-like C2-type 4.					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)				TAGACAGTGACGTCCTGGTAG	0.582																																																	0			X											114.0	88.0	97.0					X																	3235844		2203	4300	6503	3245844	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.5878G>A	X.37:g.3235844C>T	ENSP00000217939:p.Val1960Ile	Somatic		Capture	Illumina HiSeq	Phase_I	3245844	Q6P1M7|Q9Y3Y8	Missense_Mutation	SNP	ENST00000217939.6	37	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	c	13.31	2.199540	0.38806	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	T	0.69806	-0.43	3.64	3.64	0.41730	Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.33382	U	0.004980	T	0.67353	0.2884	L	0.35341	1.055	0.30113	N	0.806406	D	0.60160	0.987	P	0.57009	0.811	T	0.65651	-0.6116	10	0.28530	T	0.3	.	15.1211	0.72443	0.0:1.0:0.0:0.0	.	1960	Q9NR99	MXRA5_HUMAN	I	1960	ENSP00000217939:V1960I	ENSP00000217939:V1960I	V	-	1	0	MXRA5	3245844	0.186000	0.23225	0.962000	0.40283	0.049000	0.14656	0.642000	0.24735	1.443000	0.47586	0.600000	0.82982	GTC		MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419	
FRMPD4	9758	hgsc.bcm.edu	37	X	12720004	12720004	+	Silent	SNP	T	T	C			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chrX:12720004T>C	ENST00000380682.1	+	10	1451	c.945T>C	c.(943-945)gaT>gaC	p.D315D		NM_014728.3	NP_055543.2	Q14CM0	FRPD4_HUMAN	FERM and PDZ domain containing 4	315	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				positive regulation of synapse structural plasticity (GO:0051835)	cytoskeleton (GO:0005856)|dendritic spine (GO:0043197)	phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)	p.D315E(1)		breast(1)|central_nervous_system(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)	22						GTTGTAACGATGTGGTTCAGG	0.527											OREG0019670	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																																					1	Substitution - Missense(1)	lung(1)	X											138.0	115.0	123.0					X																	12720004		2203	4300	6503	12629925	SO:0001819	synonymous_variant	9758			AB002314	CCDS35201.1	Xp22.31	2006-02-09	2006-02-09	2006-02-09	ENSG00000169933	ENSG00000169933			29007	protein-coding gene	gene with protein product		300838	"""PDZ domain containing 10"""	PDZK10, PDZD10		9205841	Standard	NM_014728		Approved	KIAA0316	uc004cuz.2	Q14CM0	OTTHUMG00000021138	ENST00000380682.1:c.945T>C	X.37:g.12720004T>C		Somatic	682	Capture	Illumina HiSeq	Phase_I	12629925	A8K0X9|O15032	Silent	SNP	ENST00000380682.1	37	CCDS35201.1																																																																																				FRMPD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055771.1	XM_045712	
MAGEB16	139604	hgsc.bcm.edu	37	X	35820780	35820780	+	Missense_Mutation	SNP	T	T	C			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chrX:35820780T>C	ENST00000399989.1	+	2	746	c.467T>C	c.(466-468)cTg>cCg	p.L156P	MAGEB16_ENST00000399985.1_Missense_Mutation_p.L156P|MAGEB16_ENST00000399987.1_Missense_Mutation_p.L156P|MAGEB16_ENST00000399992.1_Missense_Mutation_p.L188P|MAGEB16_ENST00000399988.1_Missense_Mutation_p.L156P	NM_001099921.1	NP_001093391.1	A2A368	MAGBG_HUMAN	melanoma antigen family B, 16	156	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.							p.L323R(1)|p.L323Q(1)		breast(2)|endometrium(1)|kidney(2)|large_intestine(2)|lung(16)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	31						GAGATCCTCCTGAGAGCTTCT	0.468																																																	2	Substitution - Missense(2)	ovary(1)|lung(1)	X											82.0	80.0	80.0					X																	35820780		2040	4177	6217	35730701	SO:0001583	missense	139604				CCDS43927.1	Xp21.1	2010-05-26	2005-11-07		ENSG00000189023	ENSG00000189023			21188	protein-coding gene	gene with protein product		300762	"""melanoma antigen family B, 16 (pseudogene)"""			11454705	Standard	NM_001099921		Approved		uc010ngt.1	A2A368	OTTHUMG00000021348	ENST00000399989.1:c.467T>C	X.37:g.35820780T>C	ENSP00000382871:p.Leu156Pro	Somatic		Capture	Illumina HiSeq	Phase_I	35730701	A8MU30	Missense_Mutation	SNP	ENST00000399989.1	37	CCDS43927.1	.	.	.	.	.	.	.	.	.	.	T	12.54	1.970014	0.34754	.	.	ENSG00000189023	ENST00000399988;ENST00000399992;ENST00000399987;ENST00000399989;ENST00000399985	T;T;T;T;T	0.04551	3.6;3.6;3.6;3.6;3.6	2.91	-3.71	0.04424	.	1.151770	0.06335	N	0.706920	T	0.05181	0.0138	L	0.43152	1.355	0.09310	N	0.999999	B	0.26975	0.165	B	0.32624	0.149	T	0.45425	-0.9262	10	0.56958	D	0.05	.	3.7445	0.08542	0.596:0.1302:0.0:0.2738	.	156	A2A368	MAGBG_HUMAN	P	156;188;156;156;156	ENSP00000382870:L156P;ENSP00000382874:L188P;ENSP00000382869:L156P;ENSP00000382871:L156P;ENSP00000382867:L156P	ENSP00000382867:L156P	L	+	2	0	MAGEB16	35730701	0.000000	0.05858	0.000000	0.03702	0.082000	0.17680	-0.267000	0.08619	-0.885000	0.03971	0.423000	0.28283	CTG		MAGEB16-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251034.1		
MAOB	4129	hgsc.bcm.edu	37	X	43662574	43662574	+	Nonsense_Mutation	SNP	C	C	T			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chrX:43662574C>T	ENST00000378069.4	-	4	504	c.357G>A	c.(355-357)tgG>tgA	p.W119*	MAOB_ENST00000487544.1_5'UTR|MAOB_ENST00000536181.1_Nonsense_Mutation_p.W103*|MAOB_ENST00000538942.1_Nonsense_Mutation_p.W103*	NM_000898.4	NP_000889.3	P27338	AOFB_HUMAN	monoamine oxidase B	119					negative regulation of serotonin secretion (GO:0014063)|positive regulation of dopamine metabolic process (GO:0045964)|response to aluminum ion (GO:0010044)|response to corticosterone (GO:0051412)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to lipopolysaccharide (GO:0032496)|response to selenium ion (GO:0010269)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|substantia nigra development (GO:0021762)|xenobiotic metabolic process (GO:0006805)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitochondrial envelope (GO:0005740)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|primary amine oxidase activity (GO:0008131)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(1)|liver(1)|lung(3)|ovary(1)|prostate(2)|skin(5)	21					Amantadine(DB00915)|Amphetamine(DB00182)|Dopamine(DB00988)|Ephedra(DB01363)|Flavin adenine dinucleotide(DB03147)|Furazolidone(DB00614)|Isocarboxazid(DB01247)|Linezolid(DB00601)|Methamphetamine(DB01577)|Moclobemide(DB01171)|Nandrolone decanoate(DB08804)|Nicotine(DB00184)|Pargyline(DB01626)|Phenelzine(DB00780)|Phentermine(DB00191)|Procaine(DB00721)|Rasagiline(DB01367)|Selegiline(DB01037)|Sertraline(DB01104)|Tranylcypromine(DB00752)|Zonisamide(DB00909)	CCATTGTCCTCCAAAAGTTGT	0.363																																																	0			X											85.0	80.0	81.0					X																	43662574		2203	4300	6503	43547518	SO:0001587	stop_gained	4129				CCDS14261.1	Xp11.4-p11.3	2008-02-05			ENSG00000069535	ENSG00000069535	1.4.3.4		6834	protein-coding gene	gene with protein product		309860					Standard	NM_000898		Approved		uc004dfz.4	P27338	OTTHUMG00000021388	ENST00000378069.4:c.357G>A	X.37:g.43662574C>T	ENSP00000367309:p.Trp119*	Somatic		Capture	Illumina HiSeq	Phase_I	43547518	B2R6R3|B7Z5H3|D3DWC3|Q7Z6S2	Nonsense_Mutation	SNP	ENST00000378069.4	37	CCDS14261.1	.	.	.	.	.	.	.	.	.	.	C	17.81	3.479743	0.63849	.	.	ENSG00000069535	ENST00000378069;ENST00000536181;ENST00000538942	.	.	.	5.55	5.55	0.83447	.	0.125624	0.64402	D	0.000018	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20519	T	0.43	-9.8881	18.7768	0.91913	0.0:1.0:0.0:0.0	.	.	.	.	X	119;103;103	.	ENSP00000367309:W119X	W	-	3	0	MAOB	43547518	1.000000	0.71417	1.000000	0.80357	0.120000	0.20174	4.285000	0.58989	2.467000	0.83353	0.422000	0.28245	TGG		MAOB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056303.1	NM_000898	
ZNF630	57232	hgsc.bcm.edu	37	X	47918884	47918884	+	Missense_Mutation	SNP	T	T	C			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chrX:47918884T>C	ENST00000409324.3	-	5	1173	c.947A>G	c.(946-948)gAg>gGg	p.E316G	ZNF630_ENST00000276054.4_Missense_Mutation_p.E192G|ZNF630_ENST00000442455.3_Missense_Mutation_p.E302G|ZNF630-AS1_ENST00000436124.1_RNA	NM_001037735.2	NP_001032824.2	Q2M218	ZN630_HUMAN	zinc finger protein 630	316					regulation of transcription, DNA-templated (GO:0006355)|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)			endometrium(1)|large_intestine(6)|lung(11)|ovary(1)	19						ATAGGGTTTCTCCCCAGTATG	0.428																																																	0			X											62.0	55.0	57.0					X																	47918884		2194	4291	6485	47803828	SO:0001583	missense	57232			AK000580	CCDS35237.2, CCDS75971.1	Xp11.3-p11.1	2013-01-08			ENSG00000221994	ENSG00000221994		"""Zinc fingers, C2H2-type"", ""-"""	28855	protein-coding gene	gene with protein product		300819					Standard	NM_001037735		Approved	BC037316, dJ54B20.2, FLJ20573, MGC138344	uc004div.4	Q2M218	OTTHUMG00000021463	ENST00000409324.3:c.947A>G	X.37:g.47918884T>C	ENSP00000386393:p.Glu316Gly	Somatic		Capture	Illumina HiSeq	Phase_I	47803828	F8WAG4|Q5H8Z5	Missense_Mutation	SNP	ENST00000409324.3	37	CCDS35237.2	.	.	.	.	.	.	.	.	.	.	.	14.99	2.700926	0.48307	.	.	ENSG00000221994	ENST00000442455;ENST00000276054;ENST00000409324	T;T;T	0.27557	1.66;1.66;1.66	2.31	2.31	0.28768	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.41488	0.1161	M	0.77406	2.37	0.29835	N	0.829677	P	0.48503	0.911	P	0.49477	0.612	T	0.42982	-0.9419	9	0.72032	D	0.01	.	7.6956	0.28592	0.0:0.0:0.0:1.0	.	316	Q2M218	ZN630_HUMAN	G	302;192;316	ENSP00000393163:E302G;ENSP00000354683:E192G;ENSP00000386393:E316G	ENSP00000354683:E192G	E	-	2	0	ZNF630	47803828	1.000000	0.71417	0.638000	0.29380	0.600000	0.36913	6.780000	0.75063	0.961000	0.38030	0.441000	0.28932	GAG		ZNF630-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327254.1	NM_001037735	
GPR174	84636	hgsc.bcm.edu	37	X	78427340	78427340	+	Missense_Mutation	SNP	G	G	T			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chrX:78427340G>T	ENST00000276077.1	+	1	872	c.836G>T	c.(835-837)tGt>tTt	p.C279F		NM_032553.1	NP_115942.1	Q9BXC1	GP174_HUMAN	G protein-coupled receptor 174	279						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|liver(1)|lung(19)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	38						GTGGCATTGTGTCTTGCTAGT	0.388										HNSCC(63;0.18)																																							0			X											176.0	148.0	158.0					X																	78427340		2203	4300	6503	78313996	SO:0001583	missense	84636			AF345567	CCDS14443.1	Xq13.3	2012-08-21			ENSG00000147138	ENSG00000147138		"""GPCR / Class A : Orphans"""	30245	protein-coding gene	gene with protein product		300903					Standard	NM_032553		Approved	FKSG79	uc004edg.1	Q9BXC1	OTTHUMG00000021898	ENST00000276077.1:c.836G>T	X.37:g.78427340G>T	ENSP00000276077:p.Cys279Phe	Somatic		Capture	Illumina HiSeq	Phase_I	78313996	Q2M3F7	Missense_Mutation	SNP	ENST00000276077.1	37	CCDS14443.1	.	.	.	.	.	.	.	.	.	.	g	13.13	2.143920	0.37825	.	.	ENSG00000147138	ENST00000276077	T	0.13420	2.59	5.25	5.25	0.73442	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.42314	0.1197	M	0.83603	2.65	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.45775	-0.9238	10	0.72032	D	0.01	.	16.358	0.83243	0.0:0.0:1.0:0.0	.	279	Q9BXC1	GP174_HUMAN	F	279	ENSP00000276077:C279F	ENSP00000276077:C279F	C	+	2	0	GPR174	78313996	1.000000	0.71417	0.995000	0.50966	0.068000	0.16541	9.568000	0.98166	2.172000	0.68678	0.534000	0.68092	TGT		GPR174-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057327.1	NM_032553	
CYLC1	1538	hgsc.bcm.edu	37	X	83129127	83129127	+	Missense_Mutation	SNP	G	G	T			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chrX:83129127G>T	ENST00000329312.4	+	4	1448	c.1411G>T	c.(1411-1413)Gat>Tat	p.D471Y		NM_021118.1	NP_066941.1	P35663	CYLC1_HUMAN	cylicin, basic protein of sperm head cytoskeleton 1	471					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	acrosomal matrix (GO:0043159)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			NS(2)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(11)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	58						TTCAAAGAAAGATGACAAAAA	0.363																																																	0			X											44.0	37.0	39.0					X																	83129127		2200	4296	6496	83015783	SO:0001583	missense	1538			Z22780	CCDS35341.1, CCDS75998.1	Xq21.1	2008-07-31			ENSG00000183035	ENSG00000183035			2582	protein-coding gene	gene with protein product	"""cylicin 1"""	300768				7737358, 8354692	Standard	NM_021118		Approved		uc004eei.2	P35663	OTTHUMG00000021922	ENST00000329312.4:c.1411G>T	X.37:g.83129127G>T	ENSP00000331556:p.Asp471Tyr	Somatic		Capture	Illumina HiSeq	Phase_I	83015783	A0AVQ8|Q5JQQ9	Missense_Mutation	SNP	ENST00000329312.4	37	CCDS35341.1	.	.	.	.	.	.	.	.	.	.	g	10.41	1.341419	0.24339	.	.	ENSG00000183035	ENST00000329312;ENST00000544771	T	0.49720	0.77	4.23	3.37	0.38596	.	.	.	.	.	T	0.55242	0.1908	L	0.46157	1.445	0.09310	N	1	D;D	0.64830	0.994;0.987	P;P	0.62740	0.906;0.906	T	0.40327	-0.9569	9	0.72032	D	0.01	0.1997	6.9991	0.24799	0.1244:0.0:0.8756:0.0	.	471;471	P35663;F5H4V5	CYLC1_HUMAN;.	Y	471	ENSP00000331556:D471Y	ENSP00000331556:D471Y	D	+	1	0	CYLC1	83015783	0.998000	0.40836	0.083000	0.20561	0.103000	0.19146	1.516000	0.35856	1.126000	0.42016	0.600000	0.82982	GAT		CYLC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057371.1	NM_021118	
RBMXL3	139804	hgsc.bcm.edu	37	X	114426828	114426828	+	Missense_Mutation	SNP	C	C	T			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chrX:114426828C>T	ENST00000424776.3	+	1	2866	c.2824C>T	c.(2824-2826)Cgc>Tgc	p.R942C	LRCH2_ENST00000538422.1_Intron|LRCH2_ENST00000317135.8_Intron	NM_001145346.1	NP_001138818.1	Q8N7X1	RMXL3_HUMAN	RNA binding motif protein, X-linked-like 3	942	Gly-rich.						nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			endometrium(13)|kidney(2)|skin(1)	16						CCGGAGCCACCGCTACGGAGG	0.657																																																	0			X											22.0	24.0	23.0					X																	114426828		692	1589	2281	114333084	SO:0001583	missense	139804			AK097568	CCDS55478.1	Xq23	2013-02-12	2009-03-24	2009-03-24	ENSG00000175718	ENSG00000175718		"""RNA binding motif (RRM) containing"""	26859	protein-coding gene	gene with protein product			"""chromosome X open reading frame 55"""	CXorf55			Standard	NM_001145346		Approved	FLJ40249	uc011mte.1	Q8N7X1	OTTHUMG00000022230	ENST00000424776.3:c.2824C>T	X.37:g.114426828C>T	ENSP00000417451:p.Arg942Cys	Somatic		Capture	Illumina HiSeq	Phase_I	114333084	B4DXC0	Missense_Mutation	SNP	ENST00000424776.3	37	CCDS55478.1	.	.	.	.	.	.	.	.	.	.	C	12.50	1.957978	0.34565	.	.	ENSG00000175718	ENST00000424776	T	0.06142	3.34	0.149	0.149	0.14863	.	.	.	.	.	T	0.07052	0.0179	N	0.08118	0	0.23411	N	0.99774	D	0.76494	0.999	P	0.60541	0.876	T	0.37361	-0.9709	9	0.87932	D	0	.	5.9897	0.19454	0.0:0.9994:0.0:6.0E-4	.	942	Q8N7X1	RMXL3_HUMAN	C	942	ENSP00000417451:R942C	ENSP00000417451:R942C	R	+	1	0	RBMXL3	114333084	0.047000	0.20315	0.017000	0.16124	0.017000	0.09413	0.539000	0.23175	0.177000	0.19895	0.179000	0.17066	CGC		RBMXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057968.3	NM_001145346	
DOCK11	139818	hgsc.bcm.edu	37	X	117815033	117815033	+	Missense_Mutation	SNP	T	T	C			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chrX:117815033T>C	ENST00000276202.7	+	50	5747	c.5684T>C	c.(5683-5685)tTt>tCt	p.F1895S	DOCK11_ENST00000276204.6_Missense_Mutation_p.F1895S	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	1895	DHR-2.				blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						TCAAACTCGTTTCCTTACGTG	0.303																																																	0			X											68.0	69.0	69.0					X																	117815033		2203	4300	6503	117699061	SO:0001583	missense	139818			AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.5684T>C	X.37:g.117815033T>C	ENSP00000276202:p.Phe1895Ser	Somatic		Capture	Illumina HiSeq	Phase_I	117699061	A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	ENST00000276202.7	37	CCDS35373.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.066347	0.76187	.	.	ENSG00000147251	ENST00000276204;ENST00000276202	T;T	0.26957	1.7;1.7	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	T	0.63319	0.2501	H	0.95712	3.71	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.75288	-0.3370	10	0.87932	D	0	-10.8372	13.879	0.63672	0.0:0.0:0.0:1.0	.	1895;1895	A6NIW2;Q5JSL3	.;DOC11_HUMAN	S	1895	ENSP00000276204:F1895S;ENSP00000276202:F1895S	ENSP00000276202:F1895S	F	+	2	0	DOCK11	117699061	1.000000	0.71417	0.968000	0.41197	0.986000	0.74619	7.666000	0.83877	1.874000	0.54306	0.441000	0.28932	TTT		DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658	
OCRL	4952	hgsc.bcm.edu	37	X	128691370	128691370	+	Missense_Mutation	SNP	C	C	A			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chrX:128691370C>A	ENST00000371113.4	+	5	472	c.307C>A	c.(307-309)Cac>Aac	p.H103N	OCRL_ENST00000486673.1_3'UTR|OCRL_ENST00000357121.5_Missense_Mutation_p.H103N	NM_000276.3	NP_000267.2	Q01968	OCRL_HUMAN	oculocerebrorenal syndrome of Lowe	103	PH.				cilium assembly (GO:0042384)|in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|lipid metabolic process (GO:0006629)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol dephosphorylation (GO:0046856)|phospholipid metabolic process (GO:0006644)|positive regulation of Rac GTPase activity (GO:0032855)|regulation of Rac GTPase activity (GO:0032314)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|Golgi stack (GO:0005795)|Golgi-associated vesicle (GO:0005798)|nucleus (GO:0005634)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|trans-Golgi network (GO:0005802)	inositol phosphate phosphatase activity (GO:0052745)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)|Rac GTPase activator activity (GO:0030675)|Rac GTPase binding (GO:0048365)			breast(1)|endometrium(3)|kidney(4)|large_intestine(11)|lung(24)|ovary(2)|upper_aerodigestive_tract(3)	48						TGATGAGGAACACTGTTTGAA	0.443																																																	0			X											94.0	87.0	89.0					X																	128691370		2203	4300	6503	128519051	SO:0001583	missense	4952			U57627	CCDS35393.1, CCDS35394.1	Xq25	2014-06-18			ENSG00000122126	ENSG00000122126			8108	protein-coding gene	gene with protein product		300535					Standard	NM_001587		Approved	OCRL1	uc004euq.3	Q01968	OTTHUMG00000022706	ENST00000371113.4:c.307C>A	X.37:g.128691370C>A	ENSP00000360154:p.His103Asn	Somatic		Capture	Illumina HiSeq	Phase_I	128519051	A6NKI1|A8KAP2|B7ZLX2|O60800|Q15684|Q15774|Q4VY09|Q4VY10|Q5JQF1|Q5JQF2|Q9UJG5|Q9UMA5	Missense_Mutation	SNP	ENST00000371113.4	37	CCDS35393.1	.	.	.	.	.	.	.	.	.	.	C	13.19	2.163341	0.38217	.	.	ENSG00000122126	ENST00000371113;ENST00000357121	D;D	0.93811	-3.29;-3.29	5.32	3.54	0.40534	.	1.033840	0.07532	N	0.912389	D	0.86669	0.5988	N	0.14661	0.345	0.22489	N	0.999053	B;B	0.06786	0.001;0.001	B;B	0.13407	0.009;0.006	T	0.75575	-0.3270	10	0.59425	D	0.04	.	6.5008	0.22168	0.3198:0.5937:0.0:0.0865	.	103;103	Q01968-2;Q01968	.;OCRL_HUMAN	N	103	ENSP00000360154:H103N;ENSP00000349635:H103N	ENSP00000349635:H103N	H	+	1	0	OCRL	128519051	0.081000	0.21417	0.985000	0.45067	0.990000	0.78478	1.266000	0.33039	0.438000	0.26450	0.600000	0.82982	CAC		OCRL-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058917.1	NM_000276	
MAMLD1	10046	hgsc.bcm.edu	37	X	149639758	149639758	+	Missense_Mutation	SNP	G	G	C			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chrX:149639758G>C	ENST00000370401.2	+	4	2223	c.1913G>C	c.(1912-1914)aGa>aCa	p.R638T	MAMLD1_ENST00000262858.5_Missense_Mutation_p.R638T|MAMLD1_ENST00000455522.2_Missense_Mutation_p.R119T|MAMLD1_ENST00000426613.2_Missense_Mutation_p.R613T|MAMLD1_ENST00000432680.2_Missense_Mutation_p.R613T			Q13495	MAMD1_HUMAN	mastermind-like domain containing 1	638					male gonad development (GO:0008584)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(3)|large_intestine(12)|lung(14)|ovary(1)|prostate(2)	37	Acute lymphoblastic leukemia(192;6.56e-05)					GCTCTGCCCAGACAGGTAAGA	0.488																																																	0			X											82.0	73.0	76.0					X																	149639758		2203	4300	6503	149390416	SO:0001583	missense	10046			U46023	CCDS14693.2, CCDS55525.1, CCDS55526.1	Xq28	2008-02-05	2008-01-03	2008-01-03	ENSG00000013619	ENSG00000013619			2568	protein-coding gene	gene with protein product		300120	"""chromosome X open reading frame 6"""	CXorf6		9169146, 17086185, 18162467	Standard	NM_001177465		Approved	CG1, F18	uc011mxu.2	Q13495	OTTHUMG00000024157	ENST00000370401.2:c.1913G>C	X.37:g.149639758G>C	ENSP00000359428:p.Arg638Thr	Somatic		Capture	Illumina HiSeq	Phase_I	149390416	B2RCQ4|B4DG93|B9EGA5	Missense_Mutation	SNP	ENST00000370401.2	37	CCDS14693.2	.	.	.	.	.	.	.	.	.	.	G	6.370	0.436399	0.12104	.	.	ENSG00000013619	ENST00000445612;ENST00000370401;ENST00000432680;ENST00000262858;ENST00000426613;ENST00000455522	T;T;T;T;T	0.68765	-0.35;-0.35;-0.35;-0.35;-0.35	5.34	4.45	0.53987	.	0.283910	0.35207	N	0.003380	T	0.62258	0.2413	L	0.58101	1.795	0.36279	D	0.855686	B;B;P;B	0.35107	0.033;0.017;0.484;0.041	B;B;B;B	0.33254	0.046;0.007;0.16;0.011	T	0.66031	-0.6024	10	0.31617	T	0.26	0.0074	15.0926	0.72207	0.0:0.1388:0.8612:0.0	.	510;613;613;638	F6WVG1;Q13495-4;Q13495-3;Q13495	.;.;.;MAMD1_HUMAN	T	510;638;613;638;613;119	ENSP00000359428:R638T;ENSP00000414517:R613T;ENSP00000262858:R638T;ENSP00000397438:R613T;ENSP00000389106:R119T	ENSP00000262858:R638T	R	+	2	0	MAMLD1	149390416	1.000000	0.71417	1.000000	0.80357	0.187000	0.23431	4.594000	0.61041	1.001000	0.39076	0.538000	0.68166	AGA		MAMLD1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000060844.2	NM_005491	
PLXNB3	5365	hgsc.bcm.edu	37	X	153039023	153039023	+	Missense_Mutation	SNP	G	G	A			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chrX:153039023G>A	ENST00000361971.5	+	19	3248	c.3134G>A	c.(3133-3135)cGg>cAg	p.R1045Q	PLXNB3_ENST00000538282.1_Missense_Mutation_p.R655Q|PLXNB3_ENST00000538776.1_Missense_Mutation_p.R698Q|SRPK3_ENST00000489426.1_5'Flank|PLXNB3_ENST00000538966.1_Missense_Mutation_p.R1068Q	NM_005393.2	NP_005384.2	Q9ULL4	PLXB3_HUMAN	plexin B3	1045	IPT/TIG 3.				axon guidance (GO:0007411)|cell chemotaxis (GO:0060326)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell migration (GO:0030336)|negative regulation of GTPase activity (GO:0034260)|negative regulation of lamellipodium assembly (GO:0010593)|positive chemotaxis (GO:0050918)|positive regulation of endothelial cell proliferation (GO:0001938)|semaphorin-plexin signaling pathway (GO:0071526)	integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	protein domain specific binding (GO:0019904)|semaphorin receptor activity (GO:0017154)			central_nervous_system(1)|endometrium(7)|large_intestine(2)|lung(15)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	32	all_hematologic(71;4.25e-06)|all_lung(58;3.83e-05)|Lung NSC(58;5.54e-05)|Acute lymphoblastic leukemia(192;6.56e-05)					GTGGTGCAGCGGCCCCTACTG	0.687																																																	0			X											21.0	22.0	22.0					X																	153039023		2182	4263	6445	152692217	SO:0001583	missense	5365			AF149019	CCDS14729.1, CCDS55536.1	Xq28	2008-02-05			ENSG00000198753	ENSG00000198753		"""Plexins"""	9105	protein-coding gene	gene with protein product		300214		PLXN6		10520995	Standard	NM_005393		Approved	PLEXR, PLEXB3	uc010nuk.2	Q9ULL4	OTTHUMG00000024217	ENST00000361971.5:c.3134G>A	X.37:g.153039023G>A	ENSP00000355378:p.Arg1045Gln	Somatic		Capture	Illumina HiSeq	Phase_I	152692217	B7Z3E6|F5H773|Q9HDA4	Missense_Mutation	SNP	ENST00000361971.5	37	CCDS14729.1	.	.	.	.	.	.	.	.	.	.	G	8.025	0.760377	0.15914	.	.	ENSG00000198753	ENST00000538966;ENST00000361971;ENST00000538776;ENST00000538282	T;T;T;T	0.59224	0.28;0.28;0.28;0.28	4.84	-3.53	0.04667	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);	0.912014	0.09484	N	0.795909	T	0.30262	0.0759	N	0.03238	-0.38	0.24401	N	0.99471	B;B;B	0.11235	0.001;0.004;0.001	B;B;B	0.06405	0.001;0.002;0.001	T	0.22068	-1.0227	10	0.19590	T	0.45	.	13.2537	0.60066	0.8068:0.0:0.1932:0.0	.	698;1068;1045	B7Z3H9;F5H773;Q9ULL4	.;.;PLXB3_HUMAN	Q	1068;1045;698;655	ENSP00000442736:R1068Q;ENSP00000355378:R1045Q;ENSP00000445569:R698Q;ENSP00000441919:R655Q	ENSP00000355378:R1045Q	R	+	2	0	PLXNB3	152692217	0.000000	0.05858	0.357000	0.25798	0.137000	0.21094	-0.209000	0.09358	-0.584000	0.05913	0.436000	0.28706	CGG		PLXNB3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000061063.1		
CRIPAK	285464	hgsc.bcm.edu	37	4	1388790	1388790	+	Missense_Mutation	SNP	T	T	C	rs79415192		TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	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	
RFC1	5981	hgsc.bcm.edu	37	4	39302015	39302015	+	Missense_Mutation	SNP	C	C	T			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr4:39302015C>T	ENST00000381897.1	-	20	2691	c.2558G>A	c.(2557-2559)cGg>cAg	p.R853Q	RFC1_ENST00000349703.2_Missense_Mutation_p.R852Q|RNU6-32P_ENST00000383948.1_RNA	NM_001204747.1|NM_002913.4	NP_001191676.1|NP_002904.3	P35251	RFC1_HUMAN	replication factor C (activator 1) 1, 145kDa	853					DNA repair (GO:0006281)|DNA strand elongation involved in DNA replication (GO:0006271)|DNA-dependent DNA replication (GO:0006261)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|positive regulation of catalytic activity (GO:0043085)|positive regulation of transcription, DNA-templated (GO:0045893)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|telomere maintenance via telomerase (GO:0007004)|transcription, DNA-templated (GO:0006351)|transcription-coupled nucleotide-excision repair (GO:0006283)	cell junction (GO:0030054)|DNA replication factor C complex (GO:0005663)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP binding (GO:0005524)|DNA binding (GO:0003677)|DNA clamp loader activity (GO:0003689)|double-stranded DNA binding (GO:0003690)|enzyme activator activity (GO:0008047)|sequence-specific DNA binding (GO:0043565)			haematopoietic_and_lymphoid_tissue(2)|large_intestine(9)|ovary(2)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)	16						AAACACTTTCCGGGCAACATC	0.443																																					Colon(109;59 1555 12203 17579 39824)|Esophageal Squamous(18;360 542 16186 28570 51157)												0			4											62.0	64.0	64.0					4																	39302015		2203	4300	6503	38978410	SO:0001583	missense	6573			L23320	CCDS3450.1, CCDS56329.1	4p14-p13	2010-04-21	2002-08-29		ENSG00000035928	ENSG00000035928		"""ATPases / AAA-type"""	9969	protein-coding gene	gene with protein product		102579	"""replication factor C (activator 1) 1 (145kD)"""			8114700	Standard	NM_002913		Approved	A1, PO-GA, RFC140, MHCBFB	uc003gty.2	P35251	OTTHUMG00000099363	ENST00000381897.1:c.2558G>A	4.37:g.39302015C>T	ENSP00000371321:p.Arg853Gln	Somatic		Capture	Illumina HiSeq	Phase_I	38978410	A8K6E7|Q5XKF5|Q6PKU0|Q86V41|Q86V46	Missense_Mutation	SNP	ENST00000381897.1	37	CCDS56329.1	.	.	.	.	.	.	.	.	.	.	C	36	5.872871	0.97049	.	.	ENSG00000035928	ENST00000381897;ENST00000349703	T;T	0.44881	0.91;0.91	6.06	6.06	0.98353	DNA polymerase III, clamp loader complex, gamma/delta/delta subunit, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.60011	0.2236	L	0.47190	1.495	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.85130	0.992;0.997	T	0.46091	-0.9216	10	0.25751	T	0.34	-10.6623	20.6186	0.99473	0.0:1.0:0.0:0.0	.	853;852	P35251;P35251-2	RFC1_HUMAN;.	Q	853;852	ENSP00000371321:R853Q;ENSP00000261424:R852Q	ENSP00000261424:R852Q	R	-	2	0	RFC1	38978410	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.779000	0.85648	2.876000	0.98609	0.643000	0.83706	CGG		RFC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000216808.1	NM_002913	
BEND4	389206	hgsc.bcm.edu	37	4	42145872	42145872	+	Silent	SNP	G	G	A	rs574971489		TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr4:42145872G>A	ENST00000502486.1	-	3	1206	c.627C>T	c.(625-627)aaC>aaT	p.N209N	BEND4_ENST00000504360.1_Silent_p.N205N	NM_207406.3	NP_997289.2	Q6ZU67	BEND4_HUMAN	BEN domain containing 4	209								p.N205N(1)		NS(2)|breast(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(15)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	26						CCTGTCTTTCGTTGTAACTTG	0.443													G|||	1	0.000199681	0.0008	0.0	5008	,	,		22510	0.0		0.0	False		,,,				2504	0.0																1	Substitution - coding silent(1)	upper_aerodigestive_tract(1)	4											92.0	91.0	91.0					4																	42145872		1923	4147	6070	41840629	SO:0001819	synonymous_variant	389206			AK092951	CCDS47048.1	4p13	2012-11-22	2008-10-03	2008-10-03	ENSG00000188848	ENSG00000188848		"""BEN domain containing"""	23815	protein-coding gene	gene with protein product			"""coiled-coil domain containing 4"""	CCDC4			Standard	NM_207406		Approved	FLJ35632, FLJ43965	uc003gwn.3	Q6ZU67	OTTHUMG00000160531	ENST00000502486.1:c.627C>T	4.37:g.42145872G>A		Somatic		Capture	Illumina HiSeq	Phase_I	41840629	A1A5D6|A1A5D7|C9JQZ5|Q58A26|Q58A27	Silent	SNP	ENST00000502486.1	37	CCDS47048.1																																																																																				BEND4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360975.2	NM_207406	
EPHA5	2044	hgsc.bcm.edu	37	4	66213862	66213862	+	Silent	SNP	A	A	G			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr4:66213862A>G	ENST00000273854.3	-	15	3168	c.2568T>C	c.(2566-2568)acT>acC	p.T856T	EPHA5_ENST00000511294.1_Silent_p.T857T|EPHA5_ENST00000432638.2_Silent_p.T693T|EPHA5_ENST00000354839.4_Silent_p.T834T	NM_001281765.1|NM_004439.5	NP_001268694.1|NP_004430.4	P54756	EPHA5_HUMAN	EPH receptor A5	856	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		T -> I (in a lung squamous cell carcinoma sample; somatic mutation). {ECO:0000269|PubMed:17344846}.		axon guidance (GO:0007411)|cAMP-mediated signaling (GO:0019933)|ephrin receptor signaling pathway (GO:0048013)|hippocampus development (GO:0021766)|negative regulation of synapse assembly (GO:0051964)|neuron development (GO:0048666)|positive regulation of CREB transcription factor activity (GO:0032793)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of insulin secretion involved in cellular response to glucose stimulus (GO:0061178)|regulation of Rac GTPase activity (GO:0032314)	dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|rough endoplasmic reticulum (GO:0005791)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|GPI-linked ephrin receptor activity (GO:0005004)|transmembrane-ephrin receptor activity (GO:0005005)			autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(25)|liver(1)|lung(76)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	142						CACTGGCAGAAGTAAACTTTC	0.398										TSP Lung(17;0.13)																																							0			4											144.0	139.0	141.0					4																	66213862		2203	4300	6503	65896457	SO:0001819	synonymous_variant	2044			L36644	CCDS3513.1, CCDS3514.1, CCDS75131.1, CCDS75132.1, CCDS75133.1	4q13.1	2013-02-11	2004-10-28		ENSG00000145242	ENSG00000145242		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	3389	protein-coding gene	gene with protein product		600004	"""EphA5"""			9267020, 7528718	Standard	NM_004439		Approved	Hek7, TYRO4, CEK7, EHK1	uc003hcy.3	P54756	OTTHUMG00000129273	ENST00000273854.3:c.2568T>C	4.37:g.66213862A>G		Somatic		Capture	Illumina HiSeq	Phase_I	65896457	Q7Z3F2	Silent	SNP	ENST00000273854.3	37	CCDS3513.1																																																																																				EPHA5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251388.2	NM_004439	
C4orf26	152816	hgsc.bcm.edu	37	4	76489343	76489343	+	Silent	SNP	G	G	A			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr4:76489343G>A	ENST00000311623.4	+	2	122	c.87G>A	c.(85-87)acG>acA	p.T29T	C4orf26_ENST00000435974.2_Missense_Mutation_p.R44H	NM_001257072.1|NM_178497.3	NP_001244001.1|NP_848592.2	Q17RF5	CD026_HUMAN	chromosome 4 open reading frame 26	29						extracellular region (GO:0005576)				kidney(1)|large_intestine(4)|stomach(1)	6			Lung(101;0.0973)|LUSC - Lung squamous cell carcinoma(112;0.122)			AGGTATTTACGCCTCCTGGAG	0.532																																																	0			4											69.0	72.0	71.0					4																	76489343		2203	4300	6503	76708367	SO:0001819	synonymous_variant	152816			AK074237	CCDS3569.1, CCDS56334.1, CCDS75142.1	4q21.1	2012-10-31			ENSG00000174792	ENSG00000174792			26300	protein-coding gene	gene with protein product		614829				22901946	Standard	NM_001206981		Approved	FLJ23657	uc011cbo.2	Q17RF5	OTTHUMG00000130104	ENST00000311623.4:c.87G>A	4.37:g.76489343G>A		Somatic		Capture	Illumina HiSeq	Phase_I	76708367	B4DTI3|E7ETQ0|Q8TEC3	Silent	SNP	ENST00000311623.4	37	CCDS3569.1	.	.	.	.	.	.	.	.	.	.	G	8.177	0.793010	0.16327	.	.	ENSG00000174792	ENST00000435974	T	0.50001	0.76	4.6	-5.5	0.02576	.	.	.	.	.	T	0.29256	0.0728	.	.	.	0.09310	N	1	P	0.36712	0.566	B	0.30855	0.121	T	0.14952	-1.0454	8	0.87932	D	0	.	7.0791	0.25221	0.0:0.2007:0.4484:0.3508	.	44	E7ETQ0	.	H	44	ENSP00000406925:R44H	ENSP00000406925:R44H	R	+	2	0	C4orf26	76708367	0.000000	0.05858	0.000000	0.03702	0.196000	0.23810	-1.954000	0.01525	-1.529000	0.01754	-1.040000	0.02373	CGC		C4orf26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252410.1	NM_178497	
SCD5	79966	hgsc.bcm.edu	37	4	83601872	83601872	+	Missense_Mutation	SNP	C	C	T			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr4:83601872C>T	ENST00000319540.4	-	3	876	c.557G>A	c.(556-558)cGg>cAg	p.R186Q	SCD5_ENST00000273908.4_Missense_Mutation_p.R186Q	NM_001037582.2	NP_001032671.2	Q86SK9	SCD5_HUMAN	stearoyl-CoA desaturase 5	186					fatty acid biosynthetic process (GO:0006633)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)			endometrium(1)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)	13		Colorectal(4;0.0323)|Hepatocellular(203;0.115)				TCTCTGGATCCGGACCACAGG	0.512																																																	0			4											85.0	80.0	81.0					4																	83601872		2203	4300	6503	83820896	SO:0001583	missense	79966			AF389338	CCDS3595.1, CCDS34024.1	4q21.3	2013-01-25	2005-06-09	2005-06-09	ENSG00000145284	ENSG00000145284		"""Fatty acid desaturases"""	21088	protein-coding gene	gene with protein product		608370	"""stearoyl-CoA desaturase 4"""	SCD4		12477932	Standard	NM_024906		Approved	ACOD4, FLJ21032, FADS4, HSCD5	uc003hna.2	Q86SK9	OTTHUMG00000130293	ENST00000319540.4:c.557G>A	4.37:g.83601872C>T	ENSP00000316329:p.Arg186Gln	Somatic		Capture	Illumina HiSeq	Phase_I	83820896	B2RPG0|Q4W5Q5|Q8NDS0|Q9H7D1	Missense_Mutation	SNP	ENST00000319540.4	37	CCDS34024.1	.	.	.	.	.	.	.	.	.	.	C	14.67	2.603393	0.46423	.	.	ENSG00000145284	ENST00000319540;ENST00000273908	T;T	0.13538	2.58;2.58	5.34	-3.29	0.05017	Fatty acid desaturase, type 1 (1);	0.274691	0.36034	N	0.002837	T	0.05135	0.0137	L	0.31664	0.95	0.54753	D	0.99998	P;B	0.41265	0.744;0.104	B;B	0.30401	0.115;0.025	T	0.42965	-0.9420	10	0.39692	T	0.17	-11.999	1.765	0.03000	0.1963:0.3386:0.0973:0.3678	.	186;186	Q86SK9-2;Q86SK9	.;SCD5_HUMAN	Q	186	ENSP00000316329:R186Q;ENSP00000273908:R186Q	ENSP00000273908:R186Q	R	-	2	0	SCD5	83820896	0.809000	0.29036	0.950000	0.38849	0.985000	0.73830	0.050000	0.14120	-0.917000	0.03813	0.591000	0.81541	CGG		SCD5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252635.1	NM_024906	
ANKRD50	57182	hgsc.bcm.edu	37	4	125592694	125592694	+	Missense_Mutation	SNP	T	T	G			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr4:125592694T>G	ENST00000504087.1	-	4	2775	c.1738A>C	c.(1738-1740)Aca>Cca	p.T580P	ANKRD50_ENST00000515641.1_Missense_Mutation_p.T401P	NM_020337.2	NP_065070.1	Q9ULJ7	ANR50_HUMAN	ankyrin repeat domain 50	580										NS(1)|breast(3)|central_nervous_system(1)|endometrium(7)|kidney(4)|large_intestine(14)|lung(18)|prostate(4)|skin(2)|upper_aerodigestive_tract(1)	55						GTGAGTGGTGTATGTCCATGA	0.413																																																	0			4											101.0	91.0	94.0					4																	125592694		2203	4300	6503	125812144	SO:0001583	missense	57182			AB033049	CCDS34060.1, CCDS54802.1	4q28.1	2013-01-10			ENSG00000151458	ENSG00000151458		"""Ankyrin repeat domain containing"""	29223	protein-coding gene	gene with protein product							Standard	NM_020337		Approved	KIAA1223	uc010inw.3	Q9ULJ7	OTTHUMG00000161398	ENST00000504087.1:c.1738A>C	4.37:g.125592694T>G	ENSP00000425658:p.Thr580Pro	Somatic		Capture	Illumina HiSeq	Phase_I	125812144	A8K4V3|B4DHJ6|E9PDW0|Q6N064|Q6ZSE6	Missense_Mutation	SNP	ENST00000504087.1	37	CCDS34060.1	.	.	.	.	.	.	.	.	.	.	T	13.78	2.338386	0.41398	.	.	ENSG00000151458	ENST00000504087;ENST00000515641	D;T	0.85484	-1.99;1.69	5.12	5.12	0.69794	Ankyrin repeat-containing domain (4);	0.000000	0.85682	D	0.000000	D	0.93184	0.7829	M	0.89353	3.025	0.80722	D	1	D	0.89917	1.0	D	0.79784	0.993	D	0.94449	0.7665	10	0.87932	D	0	.	15.0843	0.72138	0.0:0.0:0.0:1.0	.	580	Q9ULJ7	ANR50_HUMAN	P	580;401	ENSP00000425658:T580P;ENSP00000425355:T401P	ENSP00000425658:T580P	T	-	1	0	ANKRD50	125812144	1.000000	0.71417	0.938000	0.37757	0.103000	0.19146	7.365000	0.79537	2.148000	0.66965	0.528000	0.53228	ACA		ANKRD50-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364775.1	NM_020337	
KIAA0922	23240	hgsc.bcm.edu	37	4	154507466	154507466	+	Missense_Mutation	SNP	T	T	C			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr4:154507466T>C	ENST00000409663.3	+	14	1466	c.1414T>C	c.(1414-1416)Ttt>Ctt	p.F472L	KIAA0922_ENST00000409959.3_Missense_Mutation_p.F473L|KIAA0922_ENST00000440693.1_Missense_Mutation_p.F473L	NM_015196.3	NP_056011.3	A2VDJ0	T131L_HUMAN	KIAA0922	472						integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(16)|lung(20)|ovary(1)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	63	all_hematologic(180;0.093)	Renal(120;0.118)				CACCAATGTATTTTTGACTAC	0.338																																																	0			4											103.0	102.0	102.0					4																	154507466		2202	4295	6497	154726916	SO:0001583	missense	23240			AK096538	CCDS3783.2, CCDS47148.1	4q31.3	2008-02-05			ENSG00000121210	ENSG00000121210			29146	protein-coding gene	gene with protein product						10231032, 11230166	Standard	NM_015196		Approved	DKFZp586H1322, TMEM131L	uc010ipp.3	A2VDJ0	OTTHUMG00000153244	ENST00000409663.3:c.1414T>C	4.37:g.154507466T>C	ENSP00000386574:p.Phe472Leu	Somatic		Capture	Illumina HiSeq	Phase_I	154726916	B3KRV3|Q7LGA7|Q86Y92|Q8WU56|Q9H065|Q9Y2D7	Missense_Mutation	SNP	ENST00000409663.3	37	CCDS3783.2	.	.	.	.	.	.	.	.	.	.	T	11.20	1.568028	0.28003	.	.	ENSG00000121210	ENST00000409663;ENST00000440693;ENST00000409959;ENST00000240487	T;T;T;T	0.72615	-0.67;-0.67;-0.67;-0.67	5.7	5.7	0.88788	.	0.166050	0.53938	D	0.000049	T	0.51432	0.1674	N	0.13043	0.29	0.23162	N	0.998196	B;P;B;B	0.44139	0.029;0.827;0.012;0.007	B;B;B;B	0.41510	0.023;0.359;0.015;0.004	T	0.51317	-0.8721	10	0.02654	T	1	-23.9633	14.5339	0.67947	0.0:0.0:0.0:1.0	.	102;473;473;472	A2VDJ0-2;A2VDJ0-3;A2VDJ0-5;A2VDJ0	.;.;.;T131L_HUMAN	L	472;473;473;334	ENSP00000386574:F472L;ENSP00000409663:F473L;ENSP00000386787:F473L;ENSP00000240487:F334L	ENSP00000240487:F334L	F	+	1	0	KIAA0922	154726916	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	2.761000	0.47589	2.178000	0.69098	0.455000	0.32223	TTT		KIAA0922-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330370.1	NM_015196	
FGA	2243	hgsc.bcm.edu	37	4	155507482	155507482	+	Missense_Mutation	SNP	G	G	A			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr4:155507482G>A	ENST00000302053.3	-	5	1177	c.1099C>T	c.(1099-1101)Cgc>Tgc	p.R367C	FGA_ENST00000403106.3_Missense_Mutation_p.R367C	NM_000508.3	NP_000499.1	P02671	FIBA_HUMAN	fibrinogen alpha chain	367					blood coagulation (GO:0007596)|blood coagulation, common pathway (GO:0072377)|cell-matrix adhesion (GO:0007160)|cellular protein complex assembly (GO:0043623)|extracellular matrix organization (GO:0030198)|negative regulation of blood coagulation, common pathway (GO:2000261)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|platelet degranulation (GO:0002576)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of exocytosis (GO:0045921)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of peptide hormone secretion (GO:0090277)|positive regulation of protein secretion (GO:0050714)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive regulation of vasoconstriction (GO:0045907)|protein polymerization (GO:0051258)|response to calcium ion (GO:0051592)|signal transduction (GO:0007165)	blood microparticle (GO:0072562)|cell cortex (GO:0005938)|cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|fibrinogen complex (GO:0005577)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|vesicle (GO:0031982)	structural molecule activity (GO:0005198)			NS(1)|breast(5)|central_nervous_system(2)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(14)|liver(2)|lung(20)|ovary(3)|pancreas(1)|prostate(8)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	73	all_hematologic(180;0.215)	Renal(120;0.0458)			Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Sucralfate(DB00364)|Tenecteplase(DB00031)	GCACTTCCGCGTTCAGAGCTG	0.547																																					NSCLC(143;340 1922 20892 22370 48145)												0			4											67.0	70.0	69.0					4																	155507482		2203	4300	6503	155726932	SO:0001583	missense	2243				CCDS3787.1, CCDS47152.1	4q28	2014-09-17			ENSG00000171560	ENSG00000171560		"""Fibrinogen C domain containing"", ""Endogenous ligands"""	3661	protein-coding gene	gene with protein product		134820	"""fibrinogen, A alpha polypeptide"""				Standard	NM_000508		Approved		uc003iod.1	P02671	OTTHUMG00000150330	ENST00000302053.3:c.1099C>T	4.37:g.155507482G>A	ENSP00000306361:p.Arg367Cys	Somatic		Capture	Illumina HiSeq	Phase_I	155726932	A8K3E4|D3DP14|D3DP15|Q4QQH7|Q9BX62|Q9UCH2	Missense_Mutation	SNP	ENST00000302053.3	37	CCDS3787.1	.	.	.	.	.	.	.	.	.	.	G	7.483	0.649142	0.14516	.	.	ENSG00000171560	ENST00000302053;ENST00000403106	D;D	0.83335	-1.71;-1.71	4.43	-1.13	0.09775	.	7.083650	0.00357	N	0.000030	T	0.66665	0.2812	N	0.08118	0	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.56105	-0.8034	10	0.62326	D	0.03	.	3.3206	0.07049	0.3802:0.0:0.3322:0.2876	.	367;367	P02671-2;P02671	.;FIBA_HUMAN	C	367	ENSP00000306361:R367C;ENSP00000385981:R367C	ENSP00000306361:R367C	R	-	1	0	FGA	155726932	0.004000	0.15560	0.000000	0.03702	0.002000	0.02628	0.820000	0.27323	-0.357000	0.08175	-1.275000	0.01399	CGC		FGA-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317593.1	NM_000508	
FAT1	2195	hgsc.bcm.edu	37	4	187629345	187629345	+	Missense_Mutation	SNP	G	G	C			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr4:187629345G>C	ENST00000441802.2	-	2	1846	c.1637C>G	c.(1636-1638)cCg>cGg	p.P546R		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	546	Cadherin 4. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						CCGGCGGTACGGCAAGCCCCA	0.468										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)												0			4											70.0	68.0	68.0					4																	187629345		1923	4125	6048	187866339	SO:0001583	missense	2195			X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.1637C>G	4.37:g.187629345G>C	ENSP00000406229:p.Pro546Arg	Somatic		Capture	Illumina HiSeq	Phase_I	187866339		Missense_Mutation	SNP	ENST00000441802.2	37	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	19.08	3.758188	0.69763	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.26660	1.72	5.58	5.58	0.84498	Cadherin (4);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.62514	0.2434	M	0.91140	3.18	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.68949	-0.5274	10	0.66056	D	0.02	.	19.769	0.96353	0.0:0.0:1.0:0.0	.	546	Q14517	FAT1_HUMAN	R	546	ENSP00000406229:P546R	ENSP00000260147:P546R	P	-	2	0	FAT1	187866339	1.000000	0.71417	0.967000	0.41034	0.599000	0.36880	9.657000	0.98554	2.906000	0.99361	0.655000	0.94253	CCG		FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245	
SNTG2	54221	hgsc.bcm.edu	37	2	1241713	1241713	+	Missense_Mutation	SNP	G	G	A	rs200548143	byFrequency	TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr2:1241713G>A	ENST00000308624.5	+	10	902	c.773G>A	c.(772-774)cGg>cAg	p.R258Q	SNTG2_ENST00000407292.1_Missense_Mutation_p.R131Q	NM_018968.3	NP_061841.2	Q9NY99	SNTG2_HUMAN	syntrophin, gamma 2	258					central nervous system development (GO:0007417)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|syntrophin complex (GO:0016013)	PDZ domain binding (GO:0030165)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.00469)		all cancers(51;0.0178)|OV - Ovarian serous cystadenocarcinoma(76;0.07)|Epithelial(75;0.0864)|GBM - Glioblastoma multiforme(21;0.173)		GGGATCCTCCGGTTTTACACA	0.637													g|||	6	0.00119808	0.0045	0.0	5008	,	,		16958	0.0		0.0	False		,,,				2504	0.0																0			2						A	GLN/ARG	15,4381		0,15,2183	43.0	47.0	45.0		773	-1.1	0.0	2		45	0,8596		0,0,4298	yes	missense	SNTG2	NM_018968.3	43	0,15,6481	AA,AG,GG		0.0,0.3412,0.1155	benign	258/540	1241713	15,12977	2198	4298	6496	1224264	SO:0001583	missense	54221			AJ003029	CCDS46220.1	2p25	2008-05-23			ENSG00000172554	ENSG00000172554			13741	protein-coding gene	gene with protein product		608715				10747910	Standard	NM_018968		Approved	SYN5, G2SYN	uc002qwq.3	Q9NY99	OTTHUMG00000151370	ENST00000308624.5:c.773G>A	2.37:g.1241713G>A	ENSP00000311837:p.Arg258Gln	Somatic		Capture	Illumina HiSeq	Phase_I	1224264	Q05AH5	Missense_Mutation	SNP	ENST00000308624.5	37	CCDS46220.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	g	0.017	-1.490283	0.01018	0.003412	0.0	ENSG00000172554	ENST00000308624;ENST00000407292	T;T	0.63417	-0.04;-0.04	4.68	-1.06	0.10002	.	0.183612	0.48767	N	0.000169	T	0.17408	0.0418	N	0.00109	-2.105	0.18873	N	0.999986	B;B	0.13594	0.008;0.0	B;B	0.04013	0.001;0.0	T	0.44174	-0.9345	10	0.13470	T	0.59	.	9.6423	0.39846	0.7574:0.0:0.2426:0.0	.	131;258	Q9NY99-2;Q9NY99	.;SNTG2_HUMAN	Q	258;131	ENSP00000311837:R258Q;ENSP00000385020:R131Q	ENSP00000311837:R258Q	R	+	2	0	SNTG2	1224264	1.000000	0.71417	0.003000	0.11579	0.008000	0.06430	1.987000	0.40687	-0.295000	0.08960	-1.088000	0.02184	CGG		SNTG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322454.1	NM_018968	
PXDN	7837	hgsc.bcm.edu	37	2	1653389	1653389	+	Silent	SNP	C	C	T			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr2:1653389C>T	ENST00000252804.4	-	17	2213	c.2163G>A	c.(2161-2163)tcG>tcA	p.S721S		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	721					extracellular matrix organization (GO:0030198)|hydrogen peroxide catabolic process (GO:0042744)|immune response (GO:0006955)|negative regulation of cytokine-mediated signaling pathway (GO:0001960)|oxidation-reduction process (GO:0055114)	endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)|heme binding (GO:0020037)|interleukin-1 receptor antagonist activity (GO:0005152)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(1)|cervix(3)|endometrium(10)|haematopoietic_and_lymphoid_tissue(3)|kidney(6)|large_intestine(24)|lung(48)|ovary(3)|pancreas(8)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	112	Acute lymphoblastic leukemia(172;0.0627)|all_hematologic(175;0.0797)	all_cancers(51;0.0845)|Lung NSC(108;0.00641)|all_epithelial(98;0.00716)		all cancers(51;0.0492)|OV - Ovarian serous cystadenocarcinoma(76;0.0973)|Epithelial(75;0.17)|GBM - Glioblastoma multiforme(21;0.228)		CGGTACAGCCCGACAGGTTTG	0.582																																																	0			2											72.0	76.0	75.0					2																	1653389		2088	4221	6309	1632396	SO:0001819	synonymous_variant	7837			AF200348	CCDS46221.1	2p25.3	2013-01-11			ENSG00000130508	ENSG00000130508		"""Immunoglobulin superfamily / I-set domain containing"""	14966	protein-coding gene	gene with protein product		605158				10441517, 9039502	Standard	XM_005264707		Approved	KIAA0230, PRG2, MG50, D2S448, D2S448E, PXN	uc002qxa.3	Q92626	OTTHUMG00000059697	ENST00000252804.4:c.2163G>A	2.37:g.1653389C>T		Somatic		Capture	Illumina HiSeq	Phase_I	1632396	A8QM65|D6W4Y0|Q4KMG2	Silent	SNP	ENST00000252804.4	37	CCDS46221.1																																																																																				PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455	
ALK	238	hgsc.bcm.edu	37	2	29443592	29443592	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr2:29443592G>A	ENST00000389048.3	-	23	4531	c.3625C>T	c.(3625-3627)Cga>Tga	p.R1209*	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	1209	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.R1209*(1)	ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	CGGGTCTCTCGGAGGAAGGAC	0.607			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																														yes	Dom	yes	Familial neuroblastoma	2	2p23	238	anaplastic lymphoma kinase (Ki-1)		"""L, E, M"""	1	Substitution - Nonsense(1)	haematopoietic_and_lymphoid_tissue(1)	2											46.0	45.0	45.0					2																	29443592		2203	4300	6503	29297096	SO:0001587	stop_gained	238	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"""CD molecules"""	427	protein-coding gene	gene with protein product		105590	"""anaplastic lymphoma kinase (Ki-1)"""			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.3625C>T	2.37:g.29443592G>A	ENSP00000373700:p.Arg1209*	Somatic		Capture	Illumina HiSeq	Phase_I	29297096	Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Nonsense_Mutation	SNP	ENST00000389048.3	37	CCDS33172.1	.	.	.	.	.	.	.	.	.	.	g	49	15.862431	0.99847	.	.	ENSG00000171094	ENST00000389048	.	.	.	5.59	4.69	0.59074	.	0.000000	0.43260	U	0.000598	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.97	0.58508	0.0:0.0:0.5426:0.4574	.	.	.	.	X	1209	.	.	R	-	1	2	ALK	29297096	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	3.801000	0.55545	1.439000	0.47511	0.645000	0.84053	CGA		ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304	
ALK	238	hgsc.bcm.edu	37	2	29606622	29606622	+	Missense_Mutation	SNP	A	A	G			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr2:29606622A>G	ENST00000389048.3	-	5	2164	c.1258T>C	c.(1258-1260)Ttt>Ctt	p.F420L	ALK_ENST00000431873.1_Intron	NM_004304.4	NP_004295.2	Q9UM73	ALK_HUMAN	anaplastic lymphoma receptor tyrosine kinase	420	MAM 1. {ECO:0000255|PROSITE- ProRule:PRU00128}.				activation of MAPK activity (GO:0000187)|cell proliferation (GO:0008283)|neuron development (GO:0048666)|NIK/NF-kappaB signaling (GO:0038061)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphorylation (GO:0016310)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein autophosphorylation (GO:0046777)|regulation of apoptotic process (GO:0042981)|signal transduction (GO:0007165)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|protein complex (GO:0043234)	ATP binding (GO:0005524)|NF-kappaB-inducing kinase activity (GO:0004704)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		ATIC/ALK(24)|FN1/ALK(2)|C2orf44/ALK(2)|TPM3/ALK(33)|KLC1/ALK(2)|VCL/ALK(4)|TPM4/ALK(12)|KIF5B/ALK(8)|RANBP2/ALK(34)|SQSTM1/ALK(2)|EML4/ALK(543)|PPFIBP1/ALK(3)|SEC31A/ALK(3)|NPM1/ALK(632)|CLTC/ALK(44)|CARS/ALK(5)|MSN/ALK(6)|TFG/ALK(9)	NS(2)|autonomic_ganglia(198)|breast(8)|central_nervous_system(2)|cervix(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(7)|kidney(4)|large_intestine(25)|lung(61)|ovary(6)|pancreas(1)|prostate(2)|skin(5)|soft_tissue(3)|stomach(2)|thyroid(2)	340	Acute lymphoblastic leukemia(172;0.155)				Adenosine triphosphate(DB00171)|Crizotinib(DB08865)	TTCAGGGCAAAGAAGTCCACT	0.507			"""T, Mis, A"""	"""NPM1, TPM3, TFG, TPM4, ATIC, CLTC, MSN, ALO17, CARS, EML4, KIF5B, C2orf22"""	"""ALCL, NSCLC, Neuroblastoma"""	neuroblastoma			Neuroblastoma, Familial Clustering of;Congenital Central Hypoventilation Syndrome																														yes	Dom	yes	Familial neuroblastoma	2	2p23	238	anaplastic lymphoma kinase (Ki-1)		"""L, E, M"""	0			2											112.0	97.0	102.0					2																	29606622		2203	4300	6503	29460126	SO:0001583	missense	238	Familial Cancer Database	Familial Neuroblastoma;CCHS, Ondine Curse, incl. Ondine-Hirschsprung Disease	D45915	CCDS33172.1	2p23	2014-09-17	2008-01-23		ENSG00000171094	ENSG00000171094		"""CD molecules"""	427	protein-coding gene	gene with protein product		105590	"""anaplastic lymphoma kinase (Ki-1)"""			8122112	Standard	NM_004304		Approved	CD246	uc002rmy.3	Q9UM73	OTTHUMG00000152034	ENST00000389048.3:c.1258T>C	2.37:g.29606622A>G	ENSP00000373700:p.Phe420Leu	Somatic		Capture	Illumina HiSeq	Phase_I	29460126	Q4ZFX9|Q53QQ6|Q53RZ4|Q59FI3|Q9Y4K6	Missense_Mutation	SNP	ENST00000389048.3	37	CCDS33172.1	.	.	.	.	.	.	.	.	.	.	A	13.44	2.238236	0.39598	.	.	ENSG00000171094	ENST00000389048	T	0.01647	4.71	5.82	5.82	0.92795	Concanavalin A-like lectin/glucanase (1);MAM domain (2);	0.222920	0.23035	N	0.052700	T	0.01353	0.0044	N	0.03608	-0.345	0.80722	D	1	P	0.39624	0.681	B	0.40741	0.339	T	0.77517	-0.2558	9	.	.	.	.	13.9215	0.63935	1.0:0.0:0.0:0.0	.	420	Q9UM73	ALK_HUMAN	L	420	ENSP00000373700:F420L	.	F	-	1	0	ALK	29460126	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	3.086000	0.50159	2.221000	0.72209	0.528000	0.53228	TTT		ALK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324994.1	NM_004304	
KDM3A	55818	hgsc.bcm.edu	37	2	86693888	86693888	+	Silent	SNP	T	T	C			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr2:86693888T>C	ENST00000409556.1	+	11	1766	c.1401T>C	c.(1399-1401)tgT>tgC	p.C467C	KDM3A_ENST00000312912.5_Silent_p.C467C|KDM3A_ENST00000409064.1_Silent_p.C467C|KDM3A_ENST00000485171.1_3'UTR|KDM3A_ENST00000542128.1_Silent_p.C415C			Q9Y4C1	KDM3A_HUMAN	lysine (K)-specific demethylase 3A	467					androgen receptor signaling pathway (GO:0030521)|formaldehyde biosynthetic process (GO:0046293)|histone H3-K9 demethylation (GO:0033169)|histone H3-K9 dimethylation (GO:0036123)|hormone-mediated signaling pathway (GO:0009755)|negative regulation of histone H3-K9 methylation (GO:0051573)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatid nucleus elongation (GO:0007290)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|core promoter binding (GO:0001047)|dioxygenase activity (GO:0051213)|iron ion binding (GO:0005506)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region sequence-specific DNA binding (GO:0000976)			NS(1)|breast(3)|central_nervous_system(2)|endometrium(5)|kidney(5)|large_intestine(7)|liver(1)|lung(13)|ovary(1)|prostate(3)|skin(1)|stomach(3)|upper_aerodigestive_tract(2)	47						CTAATAACTGTTCAGGAAAAA	0.408																																					NSCLC(96;1150 1523 6936 46253 49736)												0			2											70.0	71.0	71.0					2																	86693888		2203	4300	6503	86547399	SO:0001819	synonymous_variant	55818			AB018285	CCDS1990.1	2p11.2	2011-07-01	2009-04-06	2009-04-06	ENSG00000115548	ENSG00000115548		"""Chromatin-modifying enzymes / K-demethylases"""	20815	protein-coding gene	gene with protein product	"""jumonji C domain-containing histone demethylase 2A"""	611512	"""jumonji domain containing 1"", ""jumonji domain containing 1A"""	JMJD1, JMJD1A		9872452	Standard	NM_018433		Approved	TSGA, KIAA0742, JHMD2A	uc010ytj.2	Q9Y4C1	OTTHUMG00000130204	ENST00000409556.1:c.1401T>C	2.37:g.86693888T>C		Somatic		Capture	Illumina HiSeq	Phase_I	86547399	D6W5M3|Q53S72|Q68D47|Q68UT9|Q6N050|Q8IY08	Silent	SNP	ENST00000409556.1	37	CCDS1990.1																																																																																				KDM3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252522.2	NM_018433	
BIN1	274	hgsc.bcm.edu	37	2	127809921	127809921	+	Silent	SNP	G	G	A	rs373834859		TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr2:127809921G>A	ENST00000316724.5	-	15	1692	c.1281C>T	c.(1279-1281)gcC>gcT	p.A427A	BIN1_ENST00000376113.2_Intron|BIN1_ENST00000393040.3_Intron|BIN1_ENST00000348750.4_Intron|BIN1_ENST00000346226.3_Silent_p.A352A|BIN1_ENST00000409400.1_Intron|BIN1_ENST00000357970.3_Silent_p.A384A|BIN1_ENST00000259238.4_Intron|BIN1_ENST00000466111.1_Intron|BIN1_ENST00000352848.3_Intron|BIN1_ENST00000351659.3_Silent_p.A340A|BIN1_ENST00000393041.3_Silent_p.A309A	NM_139343.2	NP_647593.1	O00499	BIN1_HUMAN	bridging integrator 1	427					cell proliferation (GO:0008283)|endocytosis (GO:0006897)|lipid tube assembly (GO:0060988)|muscle cell differentiation (GO:0042692)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of endocytosis (GO:0045807)|positive regulation of GTPase activity (GO:0043547)|regulation of cell cycle arrest (GO:0071156)|regulation of neuron differentiation (GO:0045664)|viral process (GO:0016032)	actin cytoskeleton (GO:0015629)|axon (GO:0030424)|axon initial segment (GO:0043194)|axon terminus (GO:0043679)|cerebellar mossy fiber (GO:0044300)|cytoplasm (GO:0005737)|I band (GO:0031674)|lipid tube (GO:0060987)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|synaptic vesicle (GO:0008021)|T-tubule (GO:0030315)|varicosity (GO:0043196)|Z disc (GO:0030018)	identical protein binding (GO:0042802)|tau protein binding (GO:0048156)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|large_intestine(3)|lung(6)|ovary(3)|prostate(3)|skin(3)	24	Colorectal(110;0.0831)			BRCA - Breast invasive adenocarcinoma(221;0.073)		GCAGGCTGCCGGCTGGACTCT	0.682																																																	0			2						G	,,,,,,,,,	1,4247		0,1,2123	6.0	7.0	6.0		,1281,1152,1020,,1056,,927,,	-0.8	1.0	2		6	0,8390		0,0,4195	no	intron,coding-synonymous,coding-synonymous,coding-synonymous,intron,coding-synonymous,intron,coding-synonymous,intron,intron	BIN1	NM_004305.3,NM_139343.2,NM_139344.2,NM_139345.2,NM_139346.2,NM_139347.2,NM_139348.2,NM_139349.2,NM_139350.2,NM_139351.2	,,,,,,,,,	0,1,6318	AA,AG,GG		0.0,0.0235,0.0079	,,,,,,,,,	,427/594,384/551,340/507,,352/519,,309/476,,	127809921	1,12637	2124	4195	6319	127526391	SO:0001819	synonymous_variant	274			U68485	CCDS2137.1, CCDS2138.1, CCDS2139.1, CCDS2140.1, CCDS2141.1, CCDS2142.1, CCDS2143.1, CCDS42743.1, CCDS42744.1, CCDS46403.1	2q14	2014-09-17			ENSG00000136717	ENSG00000136717			1052	protein-coding gene	gene with protein product	"""amphiphysin II"""	601248		AMPHL		8725406, 8782822, 17676042	Standard	NM_004305		Approved	SH3P9, AMPH2	uc002tns.2	O00499	OTTHUMG00000131465	ENST00000316724.5:c.1281C>T	2.37:g.127809921G>A		Somatic		Capture	Illumina HiSeq	Phase_I	127526391	O00297|O00545|O43867|O60552|O60553|O60554|O60555|O75514|O75515|O75516|O75517|O75518|Q659B7|Q92944|Q99688	Silent	SNP	ENST00000316724.5	37	CCDS2138.1																																																																																				BIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254298.2	NM_139343	
LRP1B	53353	hgsc.bcm.edu	37	2	141115582	141115582	+	Silent	SNP	G	G	A	rs35757222	byFrequency	TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr2:141115582G>A	ENST00000389484.3	-	74	12332	c.11361C>T	c.(11359-11361)tgC>tgT	p.C3787C		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3787	LDL-receptor class A 32. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		AACCATCTCCGCAGTCATCAA	0.418										TSP Lung(27;0.18)			G|||	9	0.00179712	0.0068	0.0	5008	,	,		17234	0.0		0.0	False		,,,				2504	0.0				Colon(99;50 2074 2507 20106)												0			2						G		47,4359	48.9+/-83.8	0,47,2156	154.0	143.0	146.0		11361	0.9	1.0	2	dbSNP_126	146	0,8598		0,0,4299	no	coding-synonymous	LRP1B	NM_018557.2		0,47,6455	AA,AG,GG		0.0,1.0667,0.3614		3787/4600	141115582	47,12957	2203	4299	6502	140832052	SO:0001819	synonymous_variant	53353			AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.11361C>T	2.37:g.141115582G>A		Somatic		Capture	Illumina HiSeq	Phase_I	140832052	Q8WY29|Q8WY30|Q8WY31	Silent	SNP	ENST00000389484.3	37	CCDS2182.1	5	0.0022893772893772895	5	0.01016260162601626	0	0.0	0	0.0	0	0.0	G	10.31	1.316147	0.23908	0.010667	0.0	ENSG00000168702	ENST00000437977	.	.	.	5.82	0.945	0.19543	.	.	.	.	.	T	0.49098	0.1537	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.45948	-0.9226	4	.	.	.	.	9.1047	0.36689	0.7166:0.0:0.2834:0.0	rs35757222	.	.	.	V	19	.	.	A	-	2	0	LRP1B	140832052	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	2.323000	0.43823	0.137000	0.18759	-0.312000	0.09012	GCG		LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557	
BAZ2B	29994	hgsc.bcm.edu	37	2	160295567	160295567	+	Missense_Mutation	SNP	C	C	T			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr2:160295567C>T	ENST00000392783.2	-	7	1348	c.853G>A	c.(853-855)Gat>Aat	p.D285N	BAZ2B_ENST00000343439.5_Missense_Mutation_p.D283N|BAZ2B_ENST00000392782.1_Missense_Mutation_p.D283N|BAZ2B_ENST00000355831.2_Missense_Mutation_p.D285N	NM_013450.2	NP_038478.2	Q9UIF8	BAZ2B_HUMAN	bromodomain adjacent to zinc finger domain, 2B	285					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(7)|liver(2)|lung(41)|ovary(3)|prostate(1)|skin(2)|soft_tissue(1)|urinary_tract(1)	82						TCAGAATCATCATCTTCACTT	0.328																																																	0			2											286.0	261.0	269.0					2																	160295567		1899	4115	6014	160003813	SO:0001583	missense	29994			AB032255	CCDS2209.2, CCDS74594.1	2q24.2	2013-01-28			ENSG00000123636	ENSG00000123636		"""Zinc fingers, PHD-type"""	963	protein-coding gene	gene with protein product		605683				10662543	Standard	XM_005246488		Approved	WALp4	uc002uao.3	Q9UIF8	OTTHUMG00000132027	ENST00000392783.2:c.853G>A	2.37:g.160295567C>T	ENSP00000376534:p.Asp285Asn	Somatic		Capture	Illumina HiSeq	Phase_I	160003813	D3DPA8|Q96EA1|Q96SQ8|Q9P252|Q9Y4N8	Missense_Mutation	SNP	ENST00000392783.2	37	CCDS2209.2	.	.	.	.	.	.	.	.	.	.	C	20.7	4.035439	0.75617	.	.	ENSG00000123636	ENST00000392782;ENST00000392783;ENST00000355831;ENST00000343439;ENST00000546335	T;T;T;T	0.09817	2.94;2.94;2.94;2.94	5.25	5.25	0.73442	.	0.000000	0.38111	U	0.001806	T	0.30324	0.0761	L	0.60455	1.87	0.58432	D	0.99999	P;D;D;P;P;P	0.71674	0.925;0.986;0.998;0.827;0.72;0.598	P;P;D;B;B;B	0.66084	0.616;0.797;0.941;0.429;0.429;0.247	T	0.01266	-1.1401	10	0.66056	D	0.02	-9.6363	18.8393	0.92176	0.0:1.0:0.0:0.0	.	283;222;285;283;283;285	Q6MZK7;F5H6H2;Q9UIF8-3;Q9UIF8-2;Q9UIF8-5;Q9UIF8	.;.;.;.;.;BAZ2B_HUMAN	N	283;285;285;283;222	ENSP00000376533:D283N;ENSP00000376534:D285N;ENSP00000348087:D285N;ENSP00000339670:D283N	ENSP00000339670:D283N	D	-	1	0	BAZ2B	160003813	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.032000	0.76498	2.408000	0.81797	0.563000	0.77884	GAT		BAZ2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255037.2		
KCNH7	90134	hgsc.bcm.edu	37	2	163228444	163228444	+	Silent	SNP	G	G	A			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr2:163228444G>A	ENST00000332142.5	-	16	3585	c.3486C>T	c.(3484-3486)taC>taT	p.Y1162Y		NM_033272.3	NP_150375.2	Q9NS40	KCNH7_HUMAN	potassium voltage-gated channel, subfamily H (eag-related), member 7	1162					circadian rhythm (GO:0007623)|potassium ion transmembrane transport (GO:0071805)|protein heterooligomerization (GO:0051291)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	inward rectifier potassium channel activity (GO:0005242)|signal transducer activity (GO:0004871)|voltage-gated potassium channel activity (GO:0005249)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(22)|lung(53)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	108					Doxazosin(DB00590)|Ibutilide(DB00308)|Miconazole(DB01110)|Prazosin(DB00457)|Terazosin(DB01162)	TTGGATGAACGTAAGTTTTTC	0.443																																					GBM(196;1492 2208 17507 24132 45496)												0			2											116.0	103.0	108.0					2																	163228444		2203	4300	6503	162936690	SO:0001819	synonymous_variant	90134			AF032897	CCDS2219.1, CCDS2220.1	2q24.3	2012-07-05			ENSG00000184611	ENSG00000184611		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	18863	protein-coding gene	gene with protein product		608169				16382104	Standard	NM_173162		Approved	Kv11.3, HERG3, erg3	uc002uch.2	Q9NS40	OTTHUMG00000132069	ENST00000332142.5:c.3486C>T	2.37:g.163228444G>A		Somatic		Capture	Illumina HiSeq	Phase_I	162936690	Q53QU4|Q53TB7|Q53TP9|Q8IV15	Silent	SNP	ENST00000332142.5	37	CCDS2219.1																																																																																				KCNH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255093.1	NM_033272	
TTN	7273	hgsc.bcm.edu	37	2	179552866	179552866	+	Missense_Mutation	SNP	C	C	A			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr2:179552866C>A	ENST00000591111.1	-	125	31556	c.31332G>T	c.(31330-31332)gaG>gaT	p.E10444D	TTN-AS1_ENST00000431752.1_RNA|TTN_ENST00000359218.5_Intron|TTN-AS1_ENST00000589487.1_RNA|TTN_ENST00000460472.2_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.E9517D|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Missense_Mutation_p.E10761D|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000589830.1_RNA|TTN-AS1_ENST00000585451.1_RNA			Q8WZ42	TITIN_HUMAN	titin	0	Glu-rich.|Pro-rich.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			CTGCTTCTTCCTCCTCCTCTC	0.393																																																	0			2											164.0	166.0	166.0					2																	179552866		1876	4096	5972	179261111	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.31332G>T	2.37:g.179552866C>A	ENSP00000465570:p.Glu10444Asp	Somatic		Capture	Illumina HiSeq	Phase_I	179261111	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	C	12.85	2.061105	0.36373	.	.	ENSG00000155657	ENST00000342992	T	0.65364	-0.15	4.94	1.03	0.20045	Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);	.	.	.	.	T	0.66127	0.2758	L	0.47190	1.495	0.80722	D	1	P	0.52842	0.956	P	0.62184	0.899	T	0.63998	-0.6510	9	0.87932	D	0	.	7.0274	0.24948	0.0:0.6183:0.0:0.3817	.	10444	Q8WZ42	TITIN_HUMAN	D	9517	ENSP00000343764:E9517D	ENSP00000343764:E9517D	E	-	3	2	TTN	179261111	0.895000	0.30542	1.000000	0.80357	0.942000	0.58702	-0.181000	0.09740	0.222000	0.20900	0.467000	0.42956	GAG		TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
TTN	7273	hgsc.bcm.edu	37	2	179611639	179611639	+	Intron	SNP	C	C	T	rs150492317		TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr2:179611639C>T	ENST00000591111.1	-	46	10585				TTN-AS1_ENST00000578746.1_RNA|TTN_ENST00000359218.5_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000360870.5_Missense_Mutation_p.R5163H|TTN_ENST00000342992.6_Intron|TTN_ENST00000342175.6_Intron|TTN_ENST00000589042.1_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000590773.1_RNA			Q8WZ42	TITIN_HUMAN	titin						adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)	p.R5163H(1)		NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGAATCGGAACGCCATATTTC	0.388																																																	1	Substitution - Missense(1)	large_intestine(1)	2						T	,,HIS/ARG,,	0,4406		0,0,2203	121.0	119.0	120.0		,,15488,,	4.2	0.9	2	dbSNP_134	120	1,8597	1.2+/-3.3	0,1,4298	yes	intron,intron,missense,intron,intron	TTN	NM_003319.4,NM_133378.4,NM_133379.3,NM_133432.3,NM_133437.3	,,29,,	0,1,6501	TT,TC,CC		0.0116,0.0,0.0077	,,,,	,,5163/5605,,	179611639	1,13003	2203	4299	6502	179319884	SO:0001627	intron_variant	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.10361-4991G>A	2.37:g.179611639C>T		Somatic		Capture	Illumina HiSeq	Phase_I	179319884	A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37		.	.	.	.	.	.	.	.	.	.	c	5.845	0.340101	0.11069	0.0	1.16E-4	ENSG00000155657	ENST00000360870;ENST00000306136	T	0.61859	0.07	5.95	4.19	0.49359	.	.	.	.	.	T	0.40297	0.1111	L	0.29908	0.895	0.80722	D	1	B	0.31625	0.332	B	0.19946	0.027	T	0.23368	-1.0190	9	0.42905	T	0.14	.	8.9496	0.35781	0.0:0.7584:0.1194:0.1222	.	5163	Q8WZ42-6	.	H	5163;444	ENSP00000354117:R5163H	ENSP00000304714:R444H	R	-	2	0	TTN	179319884	0.002000	0.14202	0.908000	0.35775	0.481000	0.33189	0.210000	0.17455	0.883000	0.36040	-0.713000	0.03633	CGT		TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378	
FAM126B	285172	hgsc.bcm.edu	37	2	201846545	201846545	+	Silent	SNP	T	T	C			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr2:201846545T>C	ENST00000418596.3	-	12	1228	c.1041A>G	c.(1039-1041)gcA>gcG	p.A347A	AC005037.3_ENST00000332935.6_RNA|AC005037.3_ENST00000413848.1_RNA	NM_173822.3	NP_776183.1	Q8IXS8	F126B_HUMAN	family with sequence similarity 126, member B	347						intracellular (GO:0005622)				endometrium(2)|kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)	16						ATCCTTCATCTGCATCATTCA	0.448																																																	0			2											78.0	77.0	77.0					2																	201846545		2203	4300	6503	201554790	SO:0001819	synonymous_variant	285172			BC039295	CCDS2335.1	2q33.1	2008-10-02			ENSG00000155744	ENSG00000155744			28593	protein-coding gene	gene with protein product						12477932	Standard	NM_173822		Approved	MGC39518, HYCC2	uc002uws.4	Q8IXS8	OTTHUMG00000132823	ENST00000418596.3:c.1041A>G	2.37:g.201846545T>C		Somatic		Capture	Illumina HiSeq	Phase_I	201554790	B2RCG7|Q4ZG87|Q53TX6	Silent	SNP	ENST00000418596.3	37	CCDS2335.1																																																																																				FAM126B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256285.3	NM_173822	
ALS2CR12	130540	hgsc.bcm.edu	37	2	202208956	202208956	+	Silent	SNP	T	T	C			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr2:202208956T>C	ENST00000286190.5	-	5	445	c.399A>G	c.(397-399)caA>caG	p.Q133Q	ALS2CR12_ENST00000448967.1_5'UTR|ALS2CR12_ENST00000405148.2_Silent_p.Q133Q|ALS2CR12_ENST00000439709.1_Silent_p.Q133Q|ALS2CR12_ENST00000392257.3_Silent_p.Q133Q			Q96Q35	AL2SB_HUMAN	amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 12	133					regulation of GTPase activity (GO:0043087)	outer dense fiber (GO:0001520)|sperm fibrous sheath (GO:0035686)|sperm flagellum (GO:0036126)		p.Q133H(1)		NS(1)|breast(5)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|ovary(2)	21						GCTCTGAGATTTGCTCTTCTA	0.433																																																	1	Substitution - Missense(1)	ovary(1)	2											271.0	255.0	261.0					2																	202208956		2203	4300	6503	201917201	SO:0001819	synonymous_variant	130540			AB053314	CCDS2346.1, CCDS46488.1	2q33.1	2009-10-06			ENSG00000155749	ENSG00000155749			14439	protein-coding gene	gene with protein product							Standard	XM_006712272		Approved		uc002uya.4	Q96Q35	OTTHUMG00000132824	ENST00000286190.5:c.399A>G	2.37:g.202208956T>C		Somatic		Capture	Illumina HiSeq	Phase_I	201917201	G5E9S3|Q53TT6|Q8N1B6	Silent	SNP	ENST00000286190.5	37	CCDS2346.1																																																																																				ALS2CR12-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256286.1	NM_139163	
CHPF	79586	hgsc.bcm.edu	37	2	220405095	220405095	+	Silent	SNP	C	C	T			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr2:220405095C>T	ENST00000243776.6	-	4	1586	c.1338G>A	c.(1336-1338)caG>caA	p.Q446Q	CHPF_ENST00000535926.1_Silent_p.Q284Q	NM_024536.5	NP_078812	Q8IZ52	CHSS2_HUMAN	chondroitin polymerizing factor	446					carbohydrate metabolic process (GO:0005975)|chondroitin sulfate biosynthetic process (GO:0030206)|chondroitin sulfate metabolic process (GO:0030204)|glycosaminoglycan metabolic process (GO:0030203)|small molecule metabolic process (GO:0044281)	Golgi cisterna membrane (GO:0032580)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)	glucuronosyl-N-acetylgalactosaminyl-proteoglycan 4-beta-N-acetylgalactosaminyltransferase activity (GO:0047238)|metal ion binding (GO:0046872)|N-acetylgalactosaminyl-proteoglycan 3-beta-glucuronosyltransferase activity (GO:0050510)			central_nervous_system(1)|cervix(1)|endometrium(4)|large_intestine(3)|lung(10)|ovary(1)|prostate(1)	21		Renal(207;0.0183)		Epithelial(149;3.02e-08)|all cancers(144;3.41e-06)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00802)		TCACCAGCTGCTGCTTCTGGA	0.662																																																	0			2											35.0	39.0	38.0					2																	220405095		2197	4285	6482	220113339	SO:0001819	synonymous_variant	79586			BC008878	CCDS2443.1, CCDS56169.1	2q35	2014-02-12			ENSG00000123989	ENSG00000123989	2.4.1.175, 2.4.1.226	"""Beta 3-glycosyltransferases"", ""Beta 4-glycosyltransferases"""	24291	protein-coding gene	gene with protein product	"""chondroitin sulfate synthase 2"""	610405				11230166, 12716890	Standard	NM_024536		Approved	CSS2, CHSY2	uc002vmc.4	Q8IZ52	OTTHUMG00000058929	ENST00000243776.6:c.1338G>A	2.37:g.220405095C>T		Somatic		Capture	Illumina HiSeq	Phase_I	220113339	B4DXU0|Q6UXD6|Q7L4G1|Q9H0F8|Q9H618	Silent	SNP	ENST00000243776.6	37	CCDS2443.1																																																																																				CHPF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000130268.1	NM_024536	
SLC19A3	80704	hgsc.bcm.edu	37	2	228563707	228563707	+	Missense_Mutation	SNP	C	C	T			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr2:228563707C>T	ENST00000258403.3	-	3	795	c.724G>A	c.(724-726)Ggg>Agg	p.G242R	SLC19A3_ENST00000541617.1_Missense_Mutation_p.G238R|SLC19A3_ENST00000409287.1_Intron	NM_025243.3	NP_079519.1	Q9BZV2	S19A3_HUMAN	solute carrier family 19 (thiamine transporter), member 3	242					small molecule metabolic process (GO:0044281)|thiamine transmembrane transport (GO:0071934)|thiamine-containing compound metabolic process (GO:0042723)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	thiamine uptake transmembrane transporter activity (GO:0015403)			breast(1)|cervix(1)|endometrium(6)|kidney(4)|large_intestine(5)|lung(8)|ovary(2)|skin(3)	30		Renal(207;0.0112)|all_lung(227;0.0335)|Lung NSC(271;0.142)|all_hematologic(139;0.21)|Esophageal squamous(248;0.236)		Epithelial(121;1.58e-10)|all cancers(144;8.55e-08)|Lung(261;0.00948)|LUSC - Lung squamous cell carcinoma(224;0.0125)	L-Cysteine(DB00151)	TTCAGCTTCCCTGAAGTGCTG	0.478																																																	0			2											144.0	126.0	132.0					2																	228563707		2203	4300	6503	228271951	SO:0001583	missense	80704			AF271633	CCDS2468.1	2q37	2013-07-18	2013-07-18		ENSG00000135917	ENSG00000135917		"""Solute carriers"""	16266	protein-coding gene	gene with protein product	"""thiamine transporter 2"""	606152	"""solute carrier family 19, member 3"""			11136550, 15871139	Standard	XM_005246871		Approved	THTR2	uc002vpi.3	Q9BZV2	OTTHUMG00000133185	ENST00000258403.3:c.724G>A	2.37:g.228563707C>T	ENSP00000258403:p.Gly242Arg	Somatic		Capture	Illumina HiSeq	Phase_I	228271951		Missense_Mutation	SNP	ENST00000258403.3	37	CCDS2468.1	.	.	.	.	.	.	.	.	.	.	C	8.171	0.791588	0.16258	.	.	ENSG00000135917	ENST00000258403;ENST00000541617	D;D	0.85339	-1.97;-1.97	5.73	2.75	0.32379	Major facilitator superfamily domain, general substrate transporter (1);	8.923060	0.00166	N	0.000000	T	0.80944	0.4721	L	0.50333	1.59	0.09310	N	1	B;B	0.16166	0.016;0.006	B;B	0.18561	0.022;0.021	T	0.56541	-0.7962	10	0.12430	T	0.62	-2.2519	5.8112	0.18467	0.0:0.6061:0.1386:0.2553	.	238;242	F5H2M8;Q9BZV2	.;S19A3_HUMAN	R	242;238	ENSP00000258403:G242R;ENSP00000445519:G238R	ENSP00000258403:G242R	G	-	1	0	SLC19A3	228271951	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.075000	0.14686	0.270000	0.21984	0.650000	0.86243	GGG		SLC19A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256894.1		
PTPRD	5789	hgsc.bcm.edu	37	9	8471014	8471014	+	Missense_Mutation	SNP	T	T	C			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr9:8471014T>C	ENST00000381196.4	-	28	4028	c.3485A>G	c.(3484-3486)gAt>gGt	p.D1162G	PTPRD_ENST00000540109.1_Missense_Mutation_p.D1162G|PTPRD_ENST00000486161.1_Missense_Mutation_p.D751G|PTPRD_ENST00000397606.3_Missense_Mutation_p.D741G|PTPRD_ENST00000537002.1_Missense_Mutation_p.D748G|PTPRD_ENST00000356435.5_Missense_Mutation_p.D1162G|PTPRD_ENST00000397611.3_Missense_Mutation_p.D748G|PTPRD_ENST00000358503.5_Missense_Mutation_p.D1140G|PTPRD_ENST00000360074.4_Missense_Mutation_p.D1149G|PTPRD_ENST00000355233.5_Missense_Mutation_p.D751G|PTPRD_ENST00000397617.3_Missense_Mutation_p.D741G	NM_002839.3	NP_002830.1	P23468	PTPRD_HUMAN	protein tyrosine phosphatase, receptor type, D	1162					heterophilic cell-cell adhesion (GO:0007157)|neuron differentiation (GO:0030182)|peptidyl-tyrosine dephosphorylation (GO:0035335)|phosphate-containing compound metabolic process (GO:0006796)|positive regulation of dendrite morphogenesis (GO:0050775)|presynaptic membrane assembly (GO:0097105)|protein dephosphorylation (GO:0006470)|transmembrane receptor protein tyrosine phosphatase signaling pathway (GO:0007185)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	cell adhesion molecule binding (GO:0050839)|receptor binding (GO:0005102)|transmembrane receptor protein tyrosine phosphatase activity (GO:0005001)			NS(1)|breast(7)|central_nervous_system(1)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(22)|liver(1)|lung(83)|ovary(4)|pancreas(1)|prostate(7)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(1)	168		all_cancers(3;3.38e-95)|all_epithelial(3;2.84e-91)|all_lung(3;7.3e-56)|Lung NSC(3;1.82e-52)|Renal(3;3.42e-19)|all_hematologic(3;0.000134)|all_neural(3;0.00409)|Acute lymphoblastic leukemia(23;0.0069)|Melanoma(3;0.0121)|Myeloproliferative disorder(4;0.0122)|Medulloblastoma(3;0.0144)|Lung SC(3;0.0301)|Ovarian(56;0.0694)|Hepatocellular(3;0.0824)		all cancers(1;3.38e-12)|Epithelial(1;2.12e-09)|STAD - Stomach adenocarcinoma(1;1.29e-07)|KIRC - Kidney renal clear cell carcinoma(3;5.49e-07)|Kidney(3;6.36e-07)|GBM - Glioblastoma multiforme(50;9.05e-05)|Lung(1;0.000189)|BRCA - Breast invasive adenocarcinoma(1;0.00178)|LUSC - Lung squamous cell carcinoma(1;0.0115)|LUAD - Lung adenocarcinoma(58;0.119)		TTCCATTTCATCTGGACTCTC	0.408										TSP Lung(15;0.13)																																							0			9											163.0	155.0	158.0					9																	8471014		2203	4300	6503	8461014	SO:0001583	missense	5789			X54133	CCDS6472.1, CCDS43786.1, CCDS6472.2, CCDS55288.1, CCDS55289.1, CCDS55290.1, CCDS75813.1	9p24.1-p23	2013-02-11			ENSG00000153707	ENSG00000153707		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Transmembrane receptor-like"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	9668	protein-coding gene	gene with protein product		601598				7896816, 8355697	Standard	NM_002839		Approved	PTPD, HPTP	uc003zkk.3	P23468	OTTHUMG00000021005	ENST00000381196.4:c.3485A>G	9.37:g.8471014T>C	ENSP00000370593:p.Asp1162Gly	Somatic		Capture	Illumina HiSeq	Phase_I	8461014	B1ALA0|F5GWT7|Q3KPJ0|Q3KPJ1|Q3KPJ2	Missense_Mutation	SNP	ENST00000381196.4	37	CCDS43786.1	.	.	.	.	.	.	.	.	.	.	T	23.6	4.435201	0.83885	.	.	ENSG00000153707	ENST00000381196;ENST00000356435;ENST00000360074;ENST00000358503;ENST00000355233;ENST00000397617;ENST00000397611;ENST00000537002;ENST00000346816;ENST00000540109;ENST00000486161;ENST00000397606	T;T;T;T;T;T;T;T;T;T;T	0.56941	0.43;0.43;0.47;0.52;0.66;0.77;0.54;0.43;0.43;0.66;0.77	5.72	5.72	0.89469	.	0.047899	0.85682	D	0.000000	T	0.69726	0.3143	M	0.65498	2.005	0.80722	D	1	B;B;D;B;P;P;B;P;B	0.63880	0.004;0.378;0.993;0.0;0.712;0.763;0.141;0.872;0.0	B;B;D;B;P;B;B;P;B	0.68192	0.004;0.073;0.956;0.001;0.535;0.288;0.173;0.663;0.0	T	0.69950	-0.5006	9	.	.	.	.	15.6732	0.77295	0.0:0.0:0.0:1.0	.	741;746;751;751;748;748;1149;1162;1162	Q3KPJ2;Q3KPI9;Q3KPJ0;Q3KPJ1;F5GWT7;F5GWY7;G3XAE2;Q2HXI4;P23468	.;.;.;.;.;.;.;.;PTPRD_HUMAN	G	1162;1162;1149;1140;751;741;748;748;633;1162;751;741	ENSP00000370593:D1162G;ENSP00000348812:D1162G;ENSP00000353187:D1149G;ENSP00000351293:D1140G;ENSP00000347373:D751G;ENSP00000380741:D741G;ENSP00000380735:D748G;ENSP00000440515:D748G;ENSP00000438164:D1162G;ENSP00000417093:D751G;ENSP00000380731:D741G	.	D	-	2	0	PTPRD	8461014	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.351000	0.79395	2.189000	0.69895	0.533000	0.62120	GAT		PTPRD-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055395.3		
PTPLAD2	401494	hgsc.bcm.edu	37	9	21029382	21029382	+	Silent	SNP	C	C	T	rs79392110	byFrequency	TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr9:21029382C>T	ENST00000495827.2	-	2	99	c.54G>A	c.(52-54)gcG>gcA	p.A18A	PTPLAD2_ENST00000513293.2_Silent_p.A18A|PTPLAD2_ENST00000488436.1_5'Flank	NM_001010915.3	NP_001010915.2	Q5VWC8	HACD4_HUMAN	protein tyrosine phosphatase-like A domain containing 2	18					fatty acid biosynthetic process (GO:0006633)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	lyase activity (GO:0016829)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(3)|prostate(1)|skin(1)	10				Lung(24;6.02e-14)|LUSC - Lung squamous cell carcinoma(38;1.29e-10)		TGAAAAGATACGCATTCTTCC	0.338													c|||	5	0.000998403	0.0	0.0	5008	,	,		18164	0.005		0.0	False		,,,				2504	0.0																0			9											88.0	88.0	88.0					9																	21029382		1856	4077	5933	21019382	SO:0001819	synonymous_variant	401494				CCDS43791.1	9p21.3	2008-02-05			ENSG00000188921	ENSG00000188921			20920	protein-coding gene	gene with protein product		615941					Standard	NM_001010915		Approved	Em:AL662879.1, OTTHUMG00000021016	uc010mir.1	Q5VWC8	OTTHUMG00000021016	ENST00000495827.2:c.54G>A	9.37:g.21029382C>T		Somatic		Capture	Illumina HiSeq	Phase_I	21019382	Q7Z385	Silent	SNP	ENST00000495827.2	37	CCDS43791.1																																																																																				PTPLAD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055434.3	NM_001010915	
CDKN2A	1029	hgsc.bcm.edu	37	9	21970987	21970987	+	Missense_Mutation	SNP	C	C	T			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr9:21970987C>T	ENST00000304494.5	-	2	641	c.371G>A	c.(370-372)cGc>cAc	p.R124H	CDKN2A_ENST00000497750.1_Missense_Mutation_p.R73H|CDKN2A_ENST00000530628.2_3'UTR|RP11-145E5.5_ENST00000404796.2_Intron|CDKN2A_ENST00000498124.1_Missense_Mutation_p.R124H|CDKN2A_ENST00000498628.2_Missense_Mutation_p.R73H|CDKN2A_ENST00000578845.2_Missense_Mutation_p.R73H|CDKN2A_ENST00000446177.1_Missense_Mutation_p.R124H|CDKN2A_ENST00000361570.3_3'UTR|CDKN2A_ENST00000479692.2_Missense_Mutation_p.R73H|CDKN2A_ENST00000494262.1_Missense_Mutation_p.R73H|CDKN2A_ENST00000579122.1_Missense_Mutation_p.R124H|CDKN2A_ENST00000579755.1_3'UTR	NM_000077.4	NP_000068.1	P42771	CD2A1_HUMAN	cyclin-dependent kinase inhibitor 2A	124			R -> C (in dbSNP:rs34170727).|R -> H (in an esophagus tumor).		cell cycle arrest (GO:0007050)|cell cycle checkpoint (GO:0000075)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of phosphorylation (GO:0042326)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cellular senescence (GO:2000774)|positive regulation of macrophage apoptotic process (GO:2000111)|positive regulation of smooth muscle cell apoptotic process (GO:0034393)|Ras protein signal transduction (GO:0007265)|replicative senescence (GO:0090399)|senescence-associated heterochromatin focus assembly (GO:0035986)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|senescence-associated heterochromatin focus (GO:0035985)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|NF-kappaB binding (GO:0051059)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)	p.0?(1315)|p.?(13)|p.R124H(2)|p.0(1)|p.A118fs*10(1)|p.L121fs*21(1)		NS(28)|adrenal_gland(6)|autonomic_ganglia(11)|biliary_tract(74)|bone(84)|breast(46)|central_nervous_system(522)|cervix(23)|endometrium(14)|eye(4)|genital_tract(15)|haematopoietic_and_lymphoid_tissue(698)|kidney(39)|large_intestine(11)|liver(92)|lung(365)|meninges(18)|oesophagus(239)|ovary(98)|pancreas(263)|pleura(94)|prostate(13)|salivary_gland(10)|skin(541)|small_intestine(1)|soft_tissue(93)|stomach(48)|thymus(4)|thyroid(24)|upper_aerodigestive_tract(436)|urinary_tract(283)|vulva(2)	4199		all_cancers(5;0)|Acute lymphoblastic leukemia(3;0)|all_hematologic(3;0)|all_epithelial(2;2.37e-290)|Lung NSC(2;1.26e-139)|all_lung(2;4.48e-131)|Glioma(2;3.26e-60)|all_neural(2;2.1e-52)|Renal(3;1.07e-46)|Esophageal squamous(3;3.83e-46)|Melanoma(2;2.74e-34)|Breast(3;1.14e-11)|Ovarian(3;0.000128)|Hepatocellular(5;0.00162)|Colorectal(97;0.172)		all cancers(2;0)|GBM - Glioblastoma multiforme(3;0)|Lung(2;4.07e-74)|Epithelial(2;1.08e-61)|LUSC - Lung squamous cell carcinoma(2;3.82e-48)|LUAD - Lung adenocarcinoma(2;4.56e-26)|OV - Ovarian serous cystadenocarcinoma(39;7.64e-10)|BRCA - Breast invasive adenocarcinoma(2;5.01e-09)|STAD - Stomach adenocarcinoma(4;4.63e-07)|Kidney(2;5.79e-07)|KIRC - Kidney renal clear cell carcinoma(2;7.27e-07)|COAD - Colon adenocarcinoma(8;5.15e-05)		TGCGACATCGCGATGGCCCAG	0.706		17								HNSCC(2;<9.43e_08)|TSP Lung(5;3.83e-07)																																							1333	Whole gene deletion(1316)|Unknown(13)|Substitution - Missense(2)|Deletion - Frameshift(2)	haematopoietic_and_lymphoid_tissue(278)|skin(168)|central_nervous_system(164)|lung(143)|urinary_tract(90)|bone(73)|soft_tissue(57)|pleura(51)|oesophagus(50)|upper_aerodigestive_tract(46)|ovary(34)|kidney(30)|breast(30)|pancreas(29)|thyroid(13)|NS(12)|biliary_tract(12)|stomach(12)|autonomic_ganglia(7)|liver(7)|meninges(7)|large_intestine(6)|salivary_gland(4)|thymus(4)|vulva(2)|endometrium(2)|prostate(2)	9											27.0	30.0	29.0					9																	21970987		2202	4298	6500	21960987	SO:0001583	missense	1029			L27211	CCDS6510.1, CCDS6511.1, CCDS6511.2, CCDS56565.1	9p21	2014-09-17	2012-03-08		ENSG00000147889	ENSG00000147889			1787	protein-coding gene	gene with protein product		600160	"""cyclin-dependent kinase inhibitor 2A (melanoma, p16, inhibits CDK4)"""	CDKN2, MLM		8152487, 7606716	Standard	NM_058195		Approved	CDK4I, p16, INK4a, MTS1, CMM2, ARF, p19, p14, INK4, p16INK4a, p19Arf	uc003zpk.3	P42771	OTTHUMG00000019686	ENST00000304494.5:c.371G>A	9.37:g.21970987C>T	ENSP00000307101:p.Arg124His	Somatic		Capture	Illumina HiSeq	Phase_I	21960987	A5X2G7|D3DRK1|O95440|Q15191|Q5VVJ5|Q96B52|Q9NP05	Missense_Mutation	SNP	ENST00000304494.5	37	CCDS6510.1	.	.	.	.	.	.	.	.	.	.	C	2.526	-0.309559	0.05458	.	.	ENSG00000147889	ENST00000304494;ENST00000446177	D;D	0.93763	-3.28;-3.28	5.93	0.283	0.15696	Ankyrin repeat-containing domain (4);	.	.	.	.	D	0.84270	0.5435	N	0.20807	0.61	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.70378	-0.4888	9	0.28530	T	0.3	-3.998	4.6273	0.12484	0.1494:0.4595:0.0:0.3911	.	124	P42771	CD2A1_HUMAN	H	124	ENSP00000307101:R124H;ENSP00000394932:R124H	ENSP00000307101:R124H	R	-	2	0	CDKN2A	21960987	0.000000	0.05858	0.005000	0.12908	0.029000	0.11900	-2.792000	0.00766	0.098000	0.17522	0.655000	0.94253	CGC		CDKN2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000051915.1	NM_000077	
FRMPD1	22844	hgsc.bcm.edu	37	9	37740470	37740470	+	Missense_Mutation	SNP	G	G	A			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr9:37740470G>A	ENST00000539465.1	+	15	2538	c.1945G>A	c.(1945-1947)Ggg>Agg	p.G649R	FRMPD1_ENST00000377765.3_Missense_Mutation_p.G649R|FRMPD1_ENST00000541302.1_Missense_Mutation_p.G518R|RP11-613M10.9_ENST00000540557.1_Intron|FRMPD1_ENST00000536622.1_Missense_Mutation_p.G471R			Q5SYB0	FRPD1_HUMAN	FERM and PDZ domain containing 1	649						cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)				NS(3)|breast(2)|central_nervous_system(2)|endometrium(5)|kidney(4)|large_intestine(22)|lung(34)|ovary(5)|prostate(3)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(3)	93				GBM - Glioblastoma multiforme(29;0.00655)		GGAGAGAAGCGGGATTGAAAC	0.577																																																	0			9											35.0	34.0	35.0					9																	37740470		2203	4299	6502	37730470	SO:0001583	missense	22844			AB023184	CCDS6612.1	9p13.1	2008-02-05			ENSG00000070601	ENSG00000070601			29159	protein-coding gene	gene with protein product						10231032	Standard	NM_014907		Approved	KIAA0967, FRMD2	uc004aag.1	Q5SYB0	OTTHUMG00000019927	ENST00000539465.1:c.1945G>A	9.37:g.37740470G>A	ENSP00000444411:p.Gly649Arg	Somatic		Capture	Illumina HiSeq	Phase_I	37730470	B4DZC8|B7Z807|D3DRQ3|Q14C73|Q5HY96|Q9Y2H3	Missense_Mutation	SNP	ENST00000539465.1	37	CCDS6612.1	.	.	.	.	.	.	.	.	.	.	G	0.009	-1.837332	0.00573	.	.	ENSG00000070601	ENST00000377765;ENST00000539465;ENST00000536622;ENST00000541302	T;T;T;T	0.15834	3.41;3.41;2.39;2.39	5.95	0.338	0.15974	.	1.540640	0.03638	N	0.239045	T	0.03959	0.0111	N	0.00392	-1.555	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.01281	0.0;0.0	T	0.39881	-0.9592	10	0.02654	T	1	-3.472	5.8535	0.18707	0.5944:0.2586:0.1469:0.0	.	518;649	B4DZC8;Q5SYB0	.;FRPD1_HUMAN	R	649;649;471;518	ENSP00000366995:G649R;ENSP00000444411:G649R;ENSP00000437762:G471R;ENSP00000444804:G518R	ENSP00000366995:G649R	G	+	1	0	FRMPD1	37730470	0.000000	0.05858	0.011000	0.14972	0.250000	0.25880	-0.006000	0.12833	0.107000	0.17824	-0.290000	0.09829	GGG		FRMPD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402969.1	NM_014907	
DAPK1	1612	hgsc.bcm.edu	37	9	90254398	90254398	+	Splice_Site	SNP	G	G	A			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr9:90254398G>A	ENST00000408954.3	+	5	888	c.553G>A	c.(553-555)Gct>Act	p.A185T	DAPK1_ENST00000469640.2_Splice_Site_p.A185T|DAPK1_ENST00000358077.5_Splice_Site_p.A185T|DAPK1_ENST00000472284.1_Splice_Site_p.A185T|DAPK1_ENST00000491893.1_Splice_Site_p.A185T	NM_004938.2	NP_004929.2	P53355	DAPK1_HUMAN	death-associated protein kinase 1	185	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|cellular response to interferon-gamma (GO:0071346)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of apoptotic process (GO:0043066)|negative regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902042)|negative regulation of translation (GO:0017148)|positive regulation of apoptotic process (GO:0043065)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of apoptotic process (GO:0042981)|regulation of autophagy (GO:0010506)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)	ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|identical protein binding (GO:0042802)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)			breast(5)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(27)|liver(2)|lung(17)|ovary(1)|prostate(2)|skin(3)|stomach(1)	72						AGAGTTTGTCGGTAAGTTTCT	0.413									Chronic Lymphocytic Leukemia, Familial Clustering of																																								0			9											110.0	106.0	107.0					9																	90254398		1837	4080	5917	89444218	SO:0001630	splice_region_variant	1612	Familial Cancer Database	Familial CLL	X76104	CCDS43842.1	9q34.1	2013-01-10			ENSG00000196730	ENSG00000196730		"""Ankyrin repeat domain containing"""	2674	protein-coding gene	gene with protein product		600831				8530096	Standard	XM_005251757		Approved	DAPK	uc004apd.3	P53355	OTTHUMG00000020150	ENST00000408954.3:c.553+1G>A	9.37:g.90254398G>A		Somatic		Capture	Illumina HiSeq	Phase_I	89444218	B7ZLD2|B7ZLE7|Q14CQ7|Q1W5W0|Q68CP8|Q6ZRZ3|Q9BTL8	Missense_Mutation	SNP	ENST00000408954.3	37	CCDS43842.1	.	.	.	.	.	.	.	.	.	.	G	29.6	5.018329	0.93404	.	.	ENSG00000196730	ENST00000358077;ENST00000472284;ENST00000469640;ENST00000408954;ENST00000491893	T;T;T;T;T	0.65549	-0.16;-0.16;-0.16;-0.16;-0.16	5.11	5.11	0.69529	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	0.51477	D	0.000087	D	0.87450	0.6180	H	0.98068	4.14	0.80722	D	1	D;D;P	0.89917	1.0;1.0;0.48	D;D;B	0.79108	0.992;0.988;0.04	D	0.91759	0.5418	10	0.87932	D	0	.	19.09	0.93223	0.0:0.0:1.0:0.0	.	185;185;185	B7ZLE7;B7Z454;P53355	.;.;DAPK1_HUMAN	T	185	ENSP00000350785:A185T;ENSP00000417076:A185T;ENSP00000418885:A185T;ENSP00000386135:A185T;ENSP00000419026:A185T	ENSP00000350785:A185T	A	+	1	0	DAPK1	89444218	1.000000	0.71417	0.999000	0.59377	0.974000	0.67602	7.712000	0.84684	2.812000	0.96745	0.557000	0.71058	GCT		DAPK1-010	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356843.1	NM_004938	Missense_Mutation
HDHD3	81932	hgsc.bcm.edu	37	9	116136301	116136301	+	Nonsense_Mutation	SNP	G	G	A			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr9:116136301G>A	ENST00000238379.5	-	2	1231	c.334C>T	c.(334-336)Cag>Tag	p.Q112*	HDHD3_ENST00000485934.1_5'UTR|HDHD3_ENST00000374180.3_Nonsense_Mutation_p.Q112*	NM_031219.2	NP_112496.1	Q9BSH5	HDHD3_HUMAN	haloacid dehalogenase-like hydrolase domain containing 3	112						mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)			large_intestine(2)|liver(1)	3						TCCAACACCTGCCAGGTGCAG	0.607																																																	0			9											90.0	99.0	96.0					9																	116136301		2203	4300	6503	115176122	SO:0001587	stop_gained	81932			AK097067	CCDS6793.1	9q33.1	2006-04-12	2004-08-09	2004-08-12	ENSG00000119431	ENSG00000119431			28171	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 158"""	C9orf158		12477932	Standard	NM_031219		Approved	MGC12904	uc004bhi.1	Q9BSH5	OTTHUMG00000020524	ENST00000238379.5:c.334C>T	9.37:g.116136301G>A	ENSP00000238379:p.Gln112*	Somatic		Capture	Illumina HiSeq	Phase_I	115176122	B2RD47	Nonsense_Mutation	SNP	ENST00000238379.5	37	CCDS6793.1	.	.	.	.	.	.	.	.	.	.	G	41	8.640443	0.98897	.	.	ENSG00000119431	ENST00000238379;ENST00000374180	.	.	.	5.86	4.91	0.64330	.	0.178215	0.48286	D	0.000184	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06494	T	0.89	-13.074	13.3926	0.60832	0.0:0.2981:0.7019:0.0	.	.	.	.	X	112	.	ENSP00000238379:Q112X	Q	-	1	0	HDHD3	115176122	1.000000	0.71417	1.000000	0.80357	0.983000	0.72400	2.299000	0.43611	2.778000	0.95560	0.655000	0.94253	CAG		HDHD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053731.1	NM_031219	
OR1L1	26737	hgsc.bcm.edu	37	9	125424242	125424242	+	Missense_Mutation	SNP	T	T	C			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr9:125424242T>C	ENST00000373686.1	+	1	398	c.398T>C	c.(397-399)gTg>gCg	p.V133A	OR1L1_ENST00000309623.1_Missense_Mutation_p.V83A			Q8NH94	OR1L1_HUMAN	olfactory receptor, family 1, subfamily L, member 1	133						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|pancreas(1)|skin(5)|upper_aerodigestive_tract(1)	17						AAGATGCTGGTGAACTTCTTA	0.438																																																	0			9											192.0	187.0	188.0					9																	125424242		2203	4300	6503	124464063	SO:0001583	missense	26737				CCDS35127.1, CCDS35127.2	9q33.2	2013-09-20			ENSG00000173679	ENSG00000173679		"""GPCR / Class A : Olfactory receptors"""	8213	protein-coding gene	gene with protein product				OR1L2			Standard	NM_001005236		Approved	OR9-C	uc022bmz.1	Q8NH94	OTTHUMG00000020618	ENST00000373686.1:c.398T>C	9.37:g.125424242T>C	ENSP00000362790:p.Val133Ala	Somatic		Capture	Illumina HiSeq	Phase_I	124464063	Q5T7Z3|Q6IFN2	Missense_Mutation	SNP	ENST00000373686.1	37		.	.	.	.	.	.	.	.	.	.	T	0.989	-0.694754	0.03303	.	.	ENSG00000173679	ENST00000373686;ENST00000309623	T;T	0.01947	4.54;4.54	3.11	-4.62	0.03370	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.01156	0.0038	N	0.11427	0.14	0.09310	N	1	B	0.02656	0.0	B	0.10450	0.005	T	0.48490	-0.9031	9	0.17832	T	0.49	.	5.8432	0.18645	0.2819:0.4891:0.0:0.229	.	133	Q8NH94	OR1L1_HUMAN	A	133;83	ENSP00000362790:V133A;ENSP00000310773:V83A	ENSP00000310773:V83A	V	+	2	0	OR1L1	124464063	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-1.624000	0.02038	-1.263000	0.02455	-0.736000	0.03550	GTG		OR1L1-201	KNOWN	basic	protein_coding	protein_coding			
ZMYM2	7750	hgsc.bcm.edu	37	13	20638637	20638637	+	Silent	SNP	T	T	C			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr13:20638637T>C	ENST00000382874.2	+	20	3274	c.3084T>C	c.(3082-3084)gtT>gtC	p.V1028V	ZMYM2_ENST00000382871.2_Silent_p.V1028V|ZMYM2_ENST00000382869.3_Silent_p.V1028V	NM_001190964.1	NP_001177893.1	Q9UBW7	ZMYM2_HUMAN	zinc finger, MYM-type 2	1028					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|PML body (GO:0016605)	ubiquitin conjugating enzyme binding (GO:0031624)|zinc ion binding (GO:0008270)			large_intestine(3)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	10		all_cancers(29;8.65e-21)|all_epithelial(30;1.04e-18)|all_lung(29;6.75e-18)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;0.000148)|Epithelial(112;0.000249)|OV - Ovarian serous cystadenocarcinoma(117;0.00816)|Lung(94;0.0173)|LUSC - Lung squamous cell carcinoma(192;0.0856)		TACCACCTGTTTTTGGCGAAG	0.343																																																	0			13											118.0	108.0	111.0					13																	20638637		1819	4087	5906	19536637	SO:0001819	synonymous_variant	7750			AF012126	CCDS45016.1	13q11-q12	2013-01-08	2006-07-13	2006-07-13	ENSG00000121741	ENSG00000121741		"""Zinc fingers, MYM type"""	12989	protein-coding gene	gene with protein product		602221	"""zinc finger protein 198"""	ZNF198		9499416, 9425908	Standard	XM_005266517		Approved	RAMP, FIM, MYM	uc001ums.3	Q9UBW7	OTTHUMG00000016507	ENST00000382874.2:c.3084T>C	13.37:g.20638637T>C		Somatic		Capture	Illumina HiSeq	Phase_I	19536637	A6NDG0|A6NI02|O43212|O43434|O60898|Q5W0Q4|Q5W0T3|Q63HP0|Q8NE39|Q9H0V5|Q9H538|Q9UEU2	Silent	SNP	ENST00000382874.2	37	CCDS45016.1																																																																																				ZMYM2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044051.2	NM_003453	
FLT1	2321	hgsc.bcm.edu	37	13	28964202	28964202	+	Missense_Mutation	SNP	G	G	A	rs374335323		TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr13:28964202G>A	ENST00000282397.4	-	13	1951	c.1700C>T	c.(1699-1701)cCg>cTg	p.P567L	FLT1_ENST00000541932.1_Missense_Mutation_p.P567L	NM_002019.4	NP_002010.2	P17948	VGFR1_HUMAN	fms-related tyrosine kinase 1	567	Ig-like C2-type 6.				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)	TCCTTCCGTCGGCATTTTTTC	0.353																																																	0			13											106.0	101.0	103.0					13																	28964202		2203	4300	6503	27862202	SO:0001583	missense	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.1700C>T	13.37:g.28964202G>A	ENSP00000282397:p.Pro567Leu	Somatic		Capture	Illumina HiSeq	Phase_I	27862202	A3E342|A3E344|A8KA71|B0LPF1|B2BF46|B2BF47|B2BF48|B3FR89|B5A923|F5H5L6|O60722|P16057|Q12954	Missense_Mutation	SNP	ENST00000282397.4	37	CCDS9330.1	.	.	.	.	.	.	.	.	.	.	G	22.8	4.340489	0.81911	.	.	ENSG00000102755	ENST00000282397;ENST00000541932	T;T	0.76316	-1.01;-0.43	6.16	6.16	0.99307	Immunoglobulin-like (1);	0.056194	0.64402	D	0.000001	D	0.87370	0.6160	M	0.66939	2.045	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.83275	0.995;0.995;0.996	T	0.82259	-0.0546	10	0.23891	T	0.37	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	567;567;567	P17948-3;P17948-2;P17948	.;.;VGFR1_HUMAN	L	567	ENSP00000282397:P567L;ENSP00000437631:P567L	ENSP00000282397:P567L	P	-	2	0	FLT1	27862202	1.000000	0.71417	0.987000	0.45799	0.979000	0.70002	8.005000	0.88553	2.937000	0.99478	0.650000	0.86243	CCG		FLT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044322.1		
CSNK1A1L	122011	hgsc.bcm.edu	37	13	37678497	37678497	+	Silent	SNP	C	C	T			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr13:37678497C>T	ENST00000379800.3	-	1	1306	c.897G>A	c.(895-897)acG>acA	p.T299T		NM_145203.5	NP_660204.2	Q8N752	KC1AL_HUMAN	casein kinase 1, alpha 1-like	299					cell morphogenesis (GO:0000902)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|ribonucleoprotein complex (GO:0030529)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			NS(1)|breast(3)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(10)|lung(11)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	37		Lung NSC(96;7.97e-05)|Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.109)		all cancers(112;3.58e-07)|Epithelial(112;1.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00695)|BRCA - Breast invasive adenocarcinoma(63;0.0117)|GBM - Glioblastoma multiforme(144;0.0407)		GCTTTAACATCGTCCAATCAA	0.478																																																	0			13											174.0	160.0	165.0					13																	37678497		2203	4300	6503	36576497	SO:0001819	synonymous_variant	122011			BC028723	CCDS9363.1	13q13.2	2008-02-05			ENSG00000180138	ENSG00000180138			20289	protein-coding gene	gene with protein product							Standard	NM_145203		Approved	MGC33182	uc001uwm.1	Q8N752	OTTHUMG00000016748	ENST00000379800.3:c.897G>A	13.37:g.37678497C>T		Somatic		Capture	Illumina HiSeq	Phase_I	36576497	Q5T2N2	Silent	SNP	ENST00000379800.3	37	CCDS9363.1																																																																																				CSNK1A1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044563.1	NM_145203	
CYSLTR2	57105	hgsc.bcm.edu	37	13	49281253	49281253	+	Silent	SNP	A	A	G			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr13:49281253A>G	ENST00000282018.3	+	1	303	c.300A>G	c.(298-300)agA>agG	p.R100R		NM_020377.2	NP_065110.1	Q9NS75	CLTR2_HUMAN	cysteinyl leukotriene receptor 2	100					immune response (GO:0006955)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell death (GO:0010942)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cysteinyl leukotriene receptor activity (GO:0001631)|leukotriene receptor activity (GO:0004974)			endometrium(2)|large_intestine(4)|lung(12)|skin(2)	20		all_cancers(8;1.66e-53)|all_epithelial(8;1.96e-19)|all_lung(13;9.94e-09)|all_hematologic(8;7.13e-07)|Lung NSC(96;1.72e-06)|Breast(56;1.53e-05)|Acute lymphoblastic leukemia(8;6.86e-05)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|all_neural(104;0.0416)|Lung SC(185;0.0787)		GBM - Glioblastoma multiforme(99;1.19e-09)	Nedocromil(DB00716)	ATTATCTTAGAGGCTCCAATT	0.428																																																	0			13											96.0	97.0	97.0					13																	49281253		2203	4300	6503	48179254	SO:0001819	synonymous_variant	57105			AB038269	CCDS9412.1	13q14.2	2012-08-10			ENSG00000152207	ENSG00000152207		"""GPCR / Class A : Leukotriene receptors"""	18274	protein-coding gene	gene with protein product		605666				10913337, 1085123	Standard	NM_020377		Approved	CysLT(2), CYSLT2R	uc001vck.2	Q9NS75	OTTHUMG00000016906	ENST00000282018.3:c.300A>G	13.37:g.49281253A>G		Somatic		Capture	Illumina HiSeq	Phase_I	48179254	Q9HCQ2	Silent	SNP	ENST00000282018.3	37	CCDS9412.1																																																																																				CYSLTR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044894.1		
SUGT1	10910	hgsc.bcm.edu	37	13	53250436	53250436	+	Silent	SNP	G	G	A	rs535411991		TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr13:53250436G>A	ENST00000343788.6	+	12	877	c.795G>A	c.(793-795)acG>acA	p.T265T	SUGT1_ENST00000310528.8_Silent_p.T233T|SUGT1_ENST00000535397.1_Silent_p.T177T	NM_001130912.1	NP_001124384.1	Q9Y2Z0	SUGT1_HUMAN	SGT1, suppressor of G2 allele of SKP1 (S. cerevisiae)	265					innate immune response (GO:0045087)|mitotic nuclear division (GO:0007067)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				kidney(3)|large_intestine(3)|lung(2)	8		Lung NSC(96;0.00212)|Breast(56;0.00235)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;3.25e-08)		ATGTGCCTACGCCAAAACAAT	0.363													G|||	1	0.000199681	0.0	0.0014	5008	,	,		15842	0.0		0.0	False		,,,				2504	0.0																0			13											98.0	101.0	100.0					13																	53250436		2203	4300	6503	52148437	SO:0001819	synonymous_variant	10910			AF068289	CCDS9436.1, CCDS45050.1	13q14.3	2014-03-20			ENSG00000165416	ENSG00000165416			16987	protein-coding gene	gene with protein product		604098				10445024	Standard	NM_006704		Approved	SGT1	uc001vhc.2	Q9Y2Z0	OTTHUMG00000016977	ENST00000343788.6:c.795G>A	13.37:g.53250436G>A		Somatic		Capture	Illumina HiSeq	Phase_I	52148437	A2A303|Q5JAK5|Q5TAM6|Q6VXY6	Silent	SNP	ENST00000343788.6	37	CCDS45050.1																																																																																				SUGT1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045104.2		
PCDH17	27253	hgsc.bcm.edu	37	13	58207478	58207478	+	Silent	SNP	C	C	T			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr13:58207478C>T	ENST00000377918.3	+	1	824	c.798C>T	c.(796-798)aaC>aaT	p.N266N		NM_001040429.2	NP_001035519.1	O14917	PCD17_HUMAN	protocadherin 17	266	Cadherin 3. {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)		TCGATCTGAACGCCACCGACG	0.587																																					Melanoma(72;952 1291 1619 12849 33676)												0			13											72.0	63.0	66.0					13																	58207478		2203	4300	6503	57105479	SO:0001819	synonymous_variant	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.798C>T	13.37:g.58207478C>T		Somatic		Capture	Illumina HiSeq	Phase_I	57105479	A8K1R5|Q5VVW9|Q5VVX0	Silent	SNP	ENST00000377918.3	37	CCDS31986.1																																																																																				PCDH17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045139.1	NM_001040429	
PCDH9	5101	hgsc.bcm.edu	37	13	67799644	67799644	+	Missense_Mutation	SNP	A	A	G			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr13:67799644A>G	ENST00000377865.2	-	1	3063	c.2929T>C	c.(2929-2931)Tgt>Cgt	p.C977R	PCDH9_ENST00000328454.5_Missense_Mutation_p.C977R|PCDH9_ENST00000544246.1_Missense_Mutation_p.C977R|PCDH9_ENST00000377861.3_Missense_Mutation_p.C977R|PCDH9_ENST00000456367.1_Missense_Mutation_p.C977R			Q9HC56	PCDH9_HUMAN	protocadherin 9	977					forebrain development (GO:0030900)|homophilic cell adhesion (GO:0007156)	cell-cell contact zone (GO:0044291)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(2)|central_nervous_system(3)|cervix(2)|endometrium(7)|kidney(4)|large_intestine(33)|lung(30)|ovary(5)|pancreas(2)|prostate(1)|skin(4)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(3)	103		Hepatocellular(98;0.0906)|Breast(118;0.107)		GBM - Glioblastoma multiforme(99;0.00819)		AGGGTGTCACAACCCCCAACA	0.498																																																	0			13											137.0	132.0	134.0					13																	67799644		2203	4300	6503	66697645	SO:0001583	missense	5101			AF169692	CCDS9443.1, CCDS9444.1	13q21.32	2010-02-22			ENSG00000184226	ENSG00000184226		"""Cadherins / Protocadherins : Non-clustered"""	8661	protein-coding gene	gene with protein product		603581				9787079	Standard	NM_020403		Approved		uc001vik.3	Q9HC56	OTTHUMG00000017040	ENST00000377865.2:c.2929T>C	13.37:g.67799644A>G	ENSP00000367096:p.Cys977Arg	Somatic		Capture	Illumina HiSeq	Phase_I	66697645	A2A6U1|Q5VT83|Q7Z3U0|Q8N3K7	Missense_Mutation	SNP	ENST00000377865.2	37	CCDS9444.1	.	.	.	.	.	.	.	.	.	.	A	14.31	2.495879	0.44352	.	.	ENSG00000184226	ENST00000544246;ENST00000377865;ENST00000456367;ENST00000328454;ENST00000377861	T;T;T;T;T	0.34859	1.34;1.34;1.34;1.34;1.34	5.63	5.63	0.86233	Protocadherin (1);	0.000000	0.85682	D	0.000000	T	0.57902	0.2085	L	0.61218	1.895	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	0.57665	-0.7772	10	0.46703	T	0.11	.	15.8249	0.78690	1.0:0.0:0.0:0.0	.	977;977;977;977	B7ZM79;Q5VT82;Q9HC56-2;Q9HC56	.;.;.;PCDH9_HUMAN	R	977	ENSP00000442186:C977R;ENSP00000367096:C977R;ENSP00000401699:C977R;ENSP00000332060:C977R;ENSP00000367092:C977R	ENSP00000332060:C977R	C	-	1	0	PCDH9	66697645	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	8.962000	0.93254	2.142000	0.66516	0.533000	0.62120	TGT		PCDH9-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276387.1	NM_203487	
FGF14	2259	hgsc.bcm.edu	37	13	103054007	103054007	+	Missense_Mutation	SNP	A	A	G			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr13:103054007A>G	ENST00000376131.4	-	1	117	c.22T>C	c.(22-24)Ttc>Ctc	p.F8L	RP11-811P12.3_ENST00000418923.2_RNA	NM_175929.2	NP_787125.1	Q92915	FGF14_HUMAN	fibroblast growth factor 14	0					adult locomotory behavior (GO:0008344)|cell death (GO:0008219)|cell-cell signaling (GO:0007267)|JNK cascade (GO:0007254)|nervous system development (GO:0007399)|neuromuscular process (GO:0050905)|positive regulation of sodium ion transport (GO:0010765)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)|nucleus (GO:0005634)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)			central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(14)|ovary(2)|prostate(2)	29	all_neural(89;0.0239)|Medulloblastoma(90;0.163)|Lung SC(71;0.184)					GTTCTCCTGAAGAGGGGCACC	0.413																																																	0			13											45.0	44.0	44.0					13																	103054007		2203	4300	6503	101852008	SO:0001583	missense	2259				CCDS9500.1, CCDS9501.1	13q34	2008-02-05			ENSG00000102466	ENSG00000102466			3671	protein-coding gene	gene with protein product		601515				8790420, 17236779	Standard	NM_175929		Approved	FHF4, SCA27	uc001vpf.2	Q92915	OTTHUMG00000017303	ENST00000376131.4:c.22T>C	13.37:g.103054007A>G	ENSP00000365301:p.Phe8Leu	Somatic		Capture	Illumina HiSeq	Phase_I	101852008	Q86YN7|Q96QX6	Missense_Mutation	SNP	ENST00000376131.4	37	CCDS9500.1	.	.	.	.	.	.	.	.	.	.	A	12.81	2.048395	0.36181	.	.	ENSG00000102466	ENST00000376131	T	0.79033	-1.23	4.73	4.73	0.59995	.	0.859532	0.10459	N	0.672221	T	0.68485	0.3006	.	.	.	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.57341	-0.7828	8	.	.	.	.	14.3812	0.66911	1.0:0.0:0.0:0.0	.	8	Q92915-2	.	L	8	ENSP00000365301:F8L	.	F	-	1	0	FGF14	101852008	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.691000	0.61738	1.984000	0.57885	0.533000	0.62120	TTC		FGF14-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045680.5		
COL4A2	1284	hgsc.bcm.edu	37	13	111138051	111138051	+	Silent	SNP	G	G	T			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr13:111138051G>T	ENST00000360467.5	+	34	3381	c.3075G>T	c.(3073-3075)ctG>ctT	p.L1025L		NM_001846.2	NP_001837.2	P08572	CO4A2_HUMAN	collagen, type IV, alpha 2	1025	Triple-helical region.				angiogenesis (GO:0001525)|axon guidance (GO:0007411)|cellular response to transforming growth factor beta stimulus (GO:0071560)|collagen catabolic process (GO:0030574)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|negative regulation of angiogenesis (GO:0016525)|transcription, DNA-templated (GO:0006351)	collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	extracellular matrix structural constituent (GO:0005201)			NS(1)|central_nervous_system(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(4)|liver(2)|lung(48)|ovary(1)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	80	all_cancers(4;2.21e-12)|all_epithelial(4;2.63e-07)|all_lung(23;5.81e-06)|Lung NSC(43;0.000274)|Colorectal(4;0.00323)|all_neural(89;0.0565)|Lung SC(71;0.0753)|Medulloblastoma(90;0.0922)	Breast(118;0.212)	BRCA - Breast invasive adenocarcinoma(86;0.11)|all cancers(43;0.151)			TCCCTGGGCTGCCTGGGAGGC	0.642																																																	0			13											41.0	49.0	47.0					13																	111138051		1885	4108	5993	109936052	SO:0001819	synonymous_variant	1284			AK025912	CCDS41907.1	13q34	2013-09-05			ENSG00000134871	ENSG00000134871		"""Collagens"""	2203	protein-coding gene	gene with protein product	"""canstatin"", ""collagen type IV alpha 2"""	120090				2439508, 3025878	Standard	NM_001846		Approved	FLJ22259, DKFZp686I14213	uc001vqx.3	P08572	OTTHUMG00000017344	ENST00000360467.5:c.3075G>T	13.37:g.111138051G>T		Somatic		Capture	Illumina HiSeq	Phase_I	109936052	Q14052|Q548C3|Q5VZA9|Q66K23	Silent	SNP	ENST00000360467.5	37	CCDS41907.1																																																																																				COL4A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045761.2	NM_001846	
Unknown	0	hgsc.bcm.edu	37	Unknown	0	0	+	IGR	SNP	A	A	G			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	A	A					Unknown	Invalid:failed_liftOver	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chrUnknown:0A>G								None (None upstream) : None (None downstream)																								0																																																	0			13																																								113583836	SO:0001628	intergenic_variant	2621																															Unknown.37:g.0A>G		Somatic		Capture	Illumina HiSeq	Phase_I	113583836		Missense_Mutation	SNP		37																																																																																				0								
ITIH2	3698	hgsc.bcm.edu	37	10	7780597	7780597	+	Silent	SNP	C	C	T	rs376027605		TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr10:7780597C>T	ENST00000358415.4	+	16	2137	c.1971C>T	c.(1969-1971)taC>taT	p.Y657Y	ITIH2_ENST00000379587.4_Silent_p.Y646Y	NM_002216.2	NP_002207.2	P19823	ITIH2_HUMAN	inter-alpha-trypsin inhibitor heavy chain 2	657					hyaluronan metabolic process (GO:0030212)|negative regulation of endopeptidase activity (GO:0010951)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	endopeptidase inhibitor activity (GO:0004866)|serine-type endopeptidase inhibitor activity (GO:0004867)			NS(2)|breast(1)|endometrium(8)|kidney(1)|large_intestine(17)|lung(25)|ovary(1)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	64						CCCTGTATTACGGCAGCAAAG	0.502																																																	0			10								0,4406		0,0,2203	112.0	100.0	104.0		1971	-5.8	0.2	10		104	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ITIH2	NM_002216.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		657/947	7780597	1,13005	2203	4300	6503	7820603	SO:0001819	synonymous_variant	3698			X07173	CCDS31141.1	10p14	2011-10-26	2011-10-26		ENSG00000151655	ENSG00000151655			6167	protein-coding gene	gene with protein product		146640	"""inter-alpha (globulin) inhibitor, H2 polypeptide"""			1385302, 10100603	Standard	NM_002216		Approved	H2P	uc001ijs.3	P19823	OTTHUMG00000017633	ENST00000358415.4:c.1971C>T	10.37:g.7780597C>T		Somatic		Capture	Illumina HiSeq	Phase_I	7820603	Q14659|Q15484|Q5T986	Silent	SNP	ENST00000358415.4	37	CCDS31141.1																																																																																				ITIH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046678.2	NM_002216	
CUBN	8029	hgsc.bcm.edu	37	10	16962055	16962055	+	Missense_Mutation	SNP	G	G	A	rs544059289		TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr10:16962055G>A	ENST00000377833.4	-	44	6793	c.6728C>T	c.(6727-6729)cCg>cTg	p.P2243L		NM_001081.3	NP_001072.2	O60494	CUBN_HUMAN	cubilin (intrinsic factor-cobalamin receptor)	2243	CUB 16. {ECO:0000255|PROSITE- ProRule:PRU00059}.				cholesterol metabolic process (GO:0008203)|cobalamin metabolic process (GO:0009235)|cobalamin transport (GO:0015889)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|receptor-mediated endocytosis (GO:0006898)|small molecule metabolic process (GO:0044281)|steroid metabolic process (GO:0008202)|tissue homeostasis (GO:0001894)|vitamin D metabolic process (GO:0042359)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	apical plasma membrane (GO:0016324)|brush border membrane (GO:0031526)|coated pit (GO:0005905)|cytosol (GO:0005829)|endocytic vesicle (GO:0030139)|endoplasmic reticulum (GO:0005783)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|extrinsic component of external side of plasma membrane (GO:0031232)|Golgi apparatus (GO:0005794)|lysosomal lumen (GO:0043202)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|cobalamin binding (GO:0031419)|protein homodimerization activity (GO:0042803)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			breast(8)|central_nervous_system(4)|cervix(1)|endometrium(18)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(42)|liver(1)|lung(107)|ovary(9)|pancreas(2)|prostate(3)|skin(9)|stomach(3)|upper_aerodigestive_tract(11)|urinary_tract(8)	241					Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)	ATCAGCGTGCGGGGGATAATT	0.493													G|||	1	0.000199681	0.0008	0.0	5008	,	,		19897	0.0		0.0	False		,,,				2504	0.0																0			10											63.0	56.0	59.0					10																	16962055		2203	4300	6503	17002061	SO:0001583	missense	8029			AF034611	CCDS7113.1	10p12	2014-09-17			ENSG00000107611	ENSG00000107611			2548	protein-coding gene	gene with protein product		602997		MGA1		9572993, 9478979	Standard	NM_001081		Approved	IFCR, gp280	uc001ioo.3	O60494	OTTHUMG00000017741	ENST00000377833.4:c.6728C>T	10.37:g.16962055G>A	ENSP00000367064:p.Pro2243Leu	Somatic		Capture	Illumina HiSeq	Phase_I	17002061	B0YIZ4|Q5VTA6|Q96RU9	Missense_Mutation	SNP	ENST00000377833.4	37	CCDS7113.1	.	.	.	.	.	.	.	.	.	.	G	0.301	-0.974031	0.02215	.	.	ENSG00000107611	ENST00000377833	T	0.37235	1.21	4.97	0.749	0.18381	CUB (5);	0.644142	0.12859	N	0.433266	T	0.23410	0.0566	L	0.33710	1.025	0.48511	D	0.999665	B	0.25441	0.126	B	0.14023	0.01	T	0.05869	-1.0859	10	0.25751	T	0.34	.	8.777	0.34767	0.0993:0.0:0.4992:0.4015	.	2243	O60494	CUBN_HUMAN	L	2243	ENSP00000367064:P2243L	ENSP00000367064:P2243L	P	-	2	0	CUBN	17002061	0.962000	0.33011	0.567000	0.28434	0.166000	0.22503	0.806000	0.27126	0.230000	0.21059	-0.553000	0.04205	CCG		CUBN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047009.1	NM_001081	
ST8SIA6	338596	hgsc.bcm.edu	37	10	17363115	17363115	+	Missense_Mutation	SNP	C	C	T			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr10:17363115C>T	ENST00000377602.4	-	8	1033	c.959G>A	c.(958-960)cGc>cAc	p.R320H		NM_001004470.1	NP_001004470.1	P61647	SIA8F_HUMAN	ST8 alpha-N-acetyl-neuraminide alpha-2,8-sialyltransferase 6	320					carbohydrate biosynthetic process (GO:0016051)|cellular protein metabolic process (GO:0044267)|ganglioside biosynthetic process (GO:0001574)|glycolipid biosynthetic process (GO:0009247)|glycoprotein metabolic process (GO:0009100)|oligosaccharide metabolic process (GO:0009311)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|protein O-linked glycosylation (GO:0006493)|sialylation (GO:0097503)	Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	sialyltransferase activity (GO:0008373)			endometrium(3)|kidney(3)|large_intestine(4)|liver(1)|lung(24)|ovary(1)|skin(1)	37						GGTGGACAAGCGGTATGCAGT	0.433																																																	0			10											176.0	172.0	173.0					10																	17363115		2203	4300	6503	17403121	SO:0001583	missense	338596				CCDS31158.1	10p13	2013-03-01	2005-02-07	2005-02-07	ENSG00000148488	ENSG00000148488		"""Sialyltransferases"""	23317	protein-coding gene	gene with protein product	"""ST8Sia VI"""	610139	"""sialyltransferase 8F (alpha-2, 8-sialyltransferase)"""	SIAT8F		11980897	Standard	XR_242697		Approved		uc001ipd.3	P61647	OTTHUMG00000017748	ENST00000377602.4:c.959G>A	10.37:g.17363115C>T	ENSP00000366827:p.Arg320His	Somatic		Capture	Illumina HiSeq	Phase_I	17403121	B0YJ97|B9EH72|Q5VZH4	Missense_Mutation	SNP	ENST00000377602.4	37	CCDS31158.1	.	.	.	.	.	.	.	.	.	.	C	34	5.297270	0.95574	.	.	ENSG00000148488	ENST00000377602	T	0.34072	1.38	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.65954	0.2741	M	0.84156	2.68	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.68957	-0.5272	10	0.72032	D	0.01	-10.7374	19.5559	0.95347	0.0:1.0:0.0:0.0	.	320	P61647	SIA8F_HUMAN	H	320	ENSP00000366827:R320H	ENSP00000366827:R320H	R	-	2	0	ST8SIA6	17403121	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	7.651000	0.83577	2.861000	0.98227	0.650000	0.86243	CGC		ST8SIA6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047036.1	NM_001004470	
PTPLA	9200	hgsc.bcm.edu	37	10	17636336	17636336	+	Missense_Mutation	SNP	G	G	A			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr10:17636336G>A	ENST00000361271.3	-	6	689	c.652C>T	c.(652-654)Ctt>Ttt	p.L218F		NM_014241.3	NP_055056.3	B0YJ81	HACD1_HUMAN	protein tyrosine phosphatase-like (proline instead of catalytic arginine), member A	218					fatty acid biosynthetic process (GO:0006633)|multicellular organismal development (GO:0007275)|myotube differentiation (GO:0014902)|peptidyl-tyrosine dephosphorylation (GO:0035335)|protein dephosphorylation (GO:0006470)|regulation of G1/S transition of mitotic cell cycle (GO:2000045)|regulation of G2/M transition of mitotic cell cycle (GO:0010389)|signal transduction (GO:0007165)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	lyase activity (GO:0016829)|protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(2)|lung(6)|skin(1)	13						ATTGTAAGAAGTTCACCAGCA	0.303																																																	0			10											60.0	61.0	61.0					10																	17636336		2203	4297	6500	17676342	SO:0001583	missense	9200			AF114494	CCDS7121.1	10p14-p13	2008-08-01	2005-11-11		ENSG00000165996	ENSG00000165996			9639	protein-coding gene	gene with protein product	"""cementum attachment protein"""	610467	"""protein tyrosine phosphatase-like (proline instead of catalytic arginine), member a"""			10644438	Standard	XM_005252641		Approved	CAP	uc001ipg.3	B0YJ81	OTTHUMG00000017750	ENST00000361271.3:c.652C>T	10.37:g.17636336G>A	ENSP00000355308:p.Leu218Phe	Somatic		Capture	Illumina HiSeq	Phase_I	17676342	B0YJ80|Q6JIC5|Q96FW7|Q9HB93|Q9UHX2	Missense_Mutation	SNP	ENST00000361271.3	37	CCDS7121.1	.	.	.	.	.	.	.	.	.	.	G	32	5.170536	0.94807	.	.	ENSG00000165996	ENST00000361271	T	0.33216	1.42	5.72	5.72	0.89469	.	0.000000	0.85682	D	0.000000	T	0.55369	0.1916	M	0.86097	2.795	0.80722	D	1	P	0.46859	0.885	P	0.52031	0.688	T	0.59804	-0.7385	10	0.66056	D	0.02	-10.8005	20.2406	0.98372	0.0:0.0:1.0:0.0	.	218	B0YJ81	HACD1_HUMAN	F	218	ENSP00000355308:L218F	ENSP00000355308:L218F	L	-	1	0	PTPLA	17676342	1.000000	0.71417	1.000000	0.80357	0.985000	0.73830	9.848000	0.99507	2.857000	0.98124	0.650000	0.86243	CTT		PTPLA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047046.1	NM_014241	
ZEB1	6935	hgsc.bcm.edu	37	10	31809187	31809187	+	Silent	SNP	A	A	G			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr10:31809187A>G	ENST00000320985.10	+	7	1034	c.924A>G	c.(922-924)acA>acG	p.T308T	ZEB1_ENST00000542815.3_Silent_p.T241T|ZEB1_ENST00000361642.5_Silent_p.T309T|ZEB1_ENST00000446923.2_Silent_p.T292T|ZEB1_ENST00000559858.1_3'UTR|ZEB1_ENST00000560721.2_Silent_p.T288T			P37275	ZEB1_HUMAN	zinc finger E-box binding homeobox 1	308					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)				GACTCAAGACATCTCAGTGTT	0.453																																					Ovarian(40;423 959 14296 36701 49589)												0			10											134.0	129.0	131.0					10																	31809187		2203	4300	6503	31849193	SO:0001819	synonymous_variant	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.924A>G	10.37:g.31809187A>G		Somatic		Capture	Illumina HiSeq	Phase_I	31849193	B4DJV0|B4DUW9|E9PCM7|F5H4I8|Q12924|Q13800|Q2KJ05|Q5T968|Q5VZ84|Q8NB68	Silent	SNP	ENST00000320985.10	37	CCDS7169.1																																																																																				ZEB1-018	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000419083.2	NM_030751	
ADAMTS14	140766	hgsc.bcm.edu	37	10	72468469	72468469	+	Missense_Mutation	SNP	G	G	A	rs147652549		TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr10:72468469G>A	ENST00000373207.1	+	4	805	c.805G>A	c.(805-807)Gac>Aac	p.D269N	ADAMTS14_ENST00000373208.1_Missense_Mutation_p.D269N	NM_080722.3	NP_542453.2	Q8WXS8	ATS14_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 14	269	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(11)|lung(15)|ovary(7)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						GGTGGTGGACGACTCGGTGGT	0.612													G|||	1	0.000199681	0.0	0.0	5008	,	,		17448	0.0		0.001	False		,,,				2504	0.0																0			10						G	ASN/ASP,ASN/ASP	0,4406		0,0,2203	145.0	115.0	125.0		805,805	4.5	1.0	10	dbSNP_134	125	2,8598	2.2+/-6.3	0,2,4298	no	missense,missense	ADAMTS14	NM_080722.3,NM_139155.2	23,23	0,2,6501	AA,AG,GG		0.0233,0.0,0.0154	possibly-damaging,possibly-damaging	269/1224,269/1227	72468469	2,13004	2203	4300	6503	72138475	SO:0001583	missense	140766			AF358666	CCDS7306.1, CCDS7307.1	10q21	2008-08-01	2005-08-19		ENSG00000138316	ENSG00000138316		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14899	protein-coding gene	gene with protein product		607506	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 14"""			11779638	Standard	NM_139155		Approved		uc001jrg.3	Q8WXS8	OTTHUMG00000018414	ENST00000373207.1:c.805G>A	10.37:g.72468469G>A	ENSP00000362303:p.Asp269Asn	Somatic		Capture	Illumina HiSeq	Phase_I	72138475	Q5T4G0|Q5T4G1|Q8TE55|Q8TEY8	Missense_Mutation	SNP	ENST00000373207.1	37	CCDS7306.1	.	.	.	.	.	.	.	.	.	.	G	29.0	4.964962	0.92855	0.0	2.33E-4	ENSG00000138316	ENST00000373208;ENST00000373207	D;D	0.85955	-2.05;-2.05	4.48	4.48	0.54585	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.000000	0.85682	D	0.000000	T	0.82010	0.4944	N	0.11023	0.085	0.53005	D	0.999964	D;D	0.61080	0.977;0.989	P;P	0.58077	0.701;0.832	T	0.82121	-0.0614	10	0.28530	T	0.3	.	16.9214	0.86165	0.0:0.0:1.0:0.0	.	269;269	Q8WXS8;Q5T4G1	ATS14_HUMAN;.	N	269	ENSP00000362304:D269N;ENSP00000362303:D269N	ENSP00000362303:D269N	D	+	1	0	ADAMTS14	72138475	1.000000	0.71417	0.998000	0.56505	0.820000	0.46376	9.618000	0.98365	2.320000	0.78422	0.491000	0.48974	GAC		ADAMTS14-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000048522.1	NM_080722	
PTEN	5728	hgsc.bcm.edu	37	10	89624287	89624287	+	Missense_Mutation	SNP	T	T	C			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr10:89624287T>C	ENST00000371953.3	+	1	1418	c.61T>C	c.(61-63)Ttc>Ctc	p.F21L	KLLN_ENST00000445946.3_5'Flank	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	21	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.?(13)|p.Y16fs*21(1)|p.R14_D22del(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)		AGAGGATGGATTCGACTTAGA	0.463		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"""	52	Whole gene deletion(37)|Unknown(13)|Deletion - In frame(1)|Deletion - Frameshift(1)	prostate(14)|central_nervous_system(9)|skin(7)|lung(6)|ovary(3)|haematopoietic_and_lymphoid_tissue(2)|endometrium(2)|bone(2)|breast(2)|biliary_tract(1)|stomach(1)|soft_tissue(1)|urinary_tract(1)|kidney(1)	10											180.0	171.0	174.0					10																	89624287		2203	4300	6503	89614267	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.61T>C	10.37:g.89624287T>C	ENSP00000361021:p.Phe21Leu	Somatic		Capture	Illumina HiSeq	Phase_I	89614267	B2R904|F2YHV0|O00633|O02679|Q6ICT7	Missense_Mutation	SNP	ENST00000371953.3	37	CCDS31238.1	.	.	.	.	.	.	.	.	.	.	T	26.5	4.747744	0.89663	.	.	ENSG00000171862	ENST00000371953	D	0.98455	-4.94	5.28	5.28	0.74379	Phosphatase tensin type (1);	0.115400	0.64402	D	0.000011	D	0.96417	0.8831	L	0.55103	1.725	0.80722	D	1	B	0.23377	0.084	B	0.21708	0.036	D	0.95076	0.8209	9	.	.	.	0.343	14.1807	0.65572	0.0:0.0:0.0:1.0	.	21	P60484	PTEN_HUMAN	L	21	ENSP00000361021:F21L	.	F	+	1	0	PTEN	89614267	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.216000	0.77974	1.996000	0.58369	0.459000	0.35465	TTC		PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
PTEN	5728	hgsc.bcm.edu	37	10	89717674	89717674	+	Silent	SNP	A	A	G			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr10:89717674A>G	ENST00000371953.3	+	7	2056	c.699A>G	c.(697-699)cgA>cgG	p.R233R	PTEN_ENST00000472832.1_3'UTR	NM_000314.4	NP_000305.3	P60484	PTEN_HUMAN	phosphatase and tensin homolog	233	C2 tensin-type. {ECO:0000255|PROSITE- ProRule:PRU00589}.				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.R234fs*11(3)|p.N212fs*1(2)|p.Y27fs*1(2)|p.G165_*404del(1)|p.?(1)|p.R233fs*10(1)|p.R233fs*12(1)|p.R233fs*20(1)|p.R234fs*26(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)		GACCCACACGACGGGAAGACA	0.418		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"""	55	Whole gene deletion(37)|Deletion - Frameshift(10)|Complex - frameshift(5)|Deletion - In frame(1)|Insertion - Frameshift(1)|Unknown(1)	prostate(16)|central_nervous_system(10)|haematopoietic_and_lymphoid_tissue(10)|skin(6)|lung(4)|breast(3)|ovary(3)|urinary_tract(2)|soft_tissue(1)	10											155.0	132.0	140.0					10																	89717674		2203	4300	6503	89707654	SO:0001819	synonymous_variant	5728	Familial Cancer Database	Incl.: Encephalocraniocutaneous Lipomatosis, ECCL, Proteus-like s.;incl.: Juvenile Polyposis of the Stomach;HMPS1, Colorectal Adenoma Carcinoma syndrome, CRAC, CRAC1;CS, Cowden disease, Multiple Hamartoma Syndrome, incl.: Lhermitte-Duclos; part of PTEN hamartoma tumour syndrome (PHTS) / PTEN-MATCHS, Cowden-like syndrome;subset of PTEN-Hamartoma Tumor Syndrome; incl.: Ruvalcaba-Myhre-Smith s.	U92436	CCDS31238.1	10q23	2014-09-17	2008-07-31		ENSG00000171862	ENSG00000171862		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : PTENs"""	9588	protein-coding gene	gene with protein product	"""mutated in multiple advanced cancers 1"""	601728		BZS, MHAM		9090379	Standard	NM_000314		Approved	MMAC1, TEP1, PTEN1	uc001kfb.3	P60484	OTTHUMG00000018688	ENST00000371953.3:c.699A>G	10.37:g.89717674A>G		Somatic		Capture	Illumina HiSeq	Phase_I	89707654	B2R904|F2YHV0|O00633|O02679|Q6ICT7	Silent	SNP	ENST00000371953.3	37	CCDS31238.1																																																																																				PTEN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049241.1	NM_000314	
TLX1	3195	hgsc.bcm.edu	37	10	102896554	102896554	+	Missense_Mutation	SNP	G	G	A			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr10:102896554G>A	ENST00000370196.6	+	3	2919	c.877G>A	c.(877-879)Gct>Act	p.A293T	RP11-31L23.3_ENST00000411459.1_RNA|TLX1_ENST00000467928.2_3'UTR			P31314	TLX1_HUMAN	T-cell leukemia homeobox 1	293					cell fate commitment (GO:0045165)|central nervous system development (GO:0007417)|neuron differentiation (GO:0030182)|organ formation (GO:0048645)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|spleen development (GO:0048536)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			breast(1)|upper_aerodigestive_tract(1)	2				Epithelial(162;6.35e-09)|all cancers(201;3.21e-07)		GCCGCTGCCCGCTGACCCTCT	0.637			T	"""TRB@, TRD@"""	T-ALL																																			Dom	yes		10	10q24	3195	""" T-cell leukemia, homeobox 1 (HOX11)"""		L	0			10											73.0	67.0	69.0					10																	102896554		2203	4300	6503	102886544	SO:0001583	missense	3195			M62626	CCDS7510.1, CCDS55725.1	10q24.32	2011-06-20	2005-12-22	2002-05-31	ENSG00000107807	ENSG00000107807		"""Homeoboxes / ANTP class : NKL subclass"""	5056	protein-coding gene	gene with protein product	"""Homeo box-11 (T-cell leukemia-3 associated breakpoint, homologous to Drosophila Notch)"", ""homeo box 11 (T-cell lymphoma 3-associated breakpoint)"""	186770	"""homeo box 11 (T-cell lymphoma 3-associated breakpoint)"", ""T-cell leukemia, homeobox 1"""	TCL3, HOX11		1676542, 1973146	Standard	NM_005521		Approved		uc001ksw.3	P31314	OTTHUMG00000019341	ENST00000370196.6:c.877G>A	10.37:g.102896554G>A	ENSP00000359215:p.Ala293Thr	Somatic		Capture	Illumina HiSeq	Phase_I	102886544	A1L4G3|O75699|Q5VXP2|Q9HCA0|Q9UD59	Missense_Mutation	SNP	ENST00000370196.6	37	CCDS7510.1	.	.	.	.	.	.	.	.	.	.	G	17.97	3.517611	0.64634	.	.	ENSG00000107807	ENST00000370196	D	0.90133	-2.62	4.39	4.39	0.52855	.	0.054742	0.64402	D	0.000001	D	0.83394	0.5245	N	0.25647	0.755	0.80722	D	1	B	0.26318	0.146	B	0.14578	0.011	T	0.81448	-0.0928	10	0.44086	T	0.13	.	13.1188	0.59314	0.0:0.1612:0.8388:0.0	.	293	P31314	TLX1_HUMAN	T	293	ENSP00000359215:A293T	ENSP00000359215:A293T	A	+	1	0	TLX1	102886544	1.000000	0.71417	0.996000	0.52242	0.810000	0.45777	3.737000	0.55060	2.156000	0.67533	0.462000	0.41574	GCT		TLX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051193.3	NM_005521	
VWA2	340706	hgsc.bcm.edu	37	10	116048996	116048996	+	Missense_Mutation	SNP	G	G	A	rs376331052		TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr10:116048996G>A	ENST00000392982.3	+	12	2120	c.1870G>A	c.(1870-1872)Gtc>Atc	p.V624I	VWA2_ENST00000603594.1_Missense_Mutation_p.V624I			Q5GFL6	VWA2_HUMAN	von Willebrand factor A domain containing 2	624	VWFA 3. {ECO:0000255|PROSITE- ProRule:PRU00219}.				calcium-independent cell-matrix adhesion (GO:0007161)|protein homooligomerization (GO:0051260)|regulation of insulin receptor signaling pathway (GO:0046626)	basement membrane (GO:0005604)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	identical protein binding (GO:0042802)			central_nervous_system(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(6)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Epithelial(162;0.036)|all cancers(201;0.0793)		AGTGATGACCGTCCAGAGGGG	0.662																																																	0			10						G	ILE/VAL	0,4406		0,0,2203	46.0	42.0	43.0		1870	0.3	0.0	10		43	1,8599	1.2+/-3.3	0,1,4299	no	missense	VWA2	NM_198496.1	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	624/726	116048996	1,13005	2203	4300	6503	116038986	SO:0001583	missense	340706			AK127756	CCDS7589.1, CCDS7589.2	10q25.3	2009-11-06			ENSG00000165816	ENSG00000165816			24709	protein-coding gene	gene with protein product						15580307, 14506275	Standard	NM_001272046		Approved	FLJ45857, FLJ16213, CCSP-2, AMACO, NET42	uc001lbl.2	Q5GFL6	OTTHUMG00000019082	ENST00000392982.3:c.1870G>A	10.37:g.116048996G>A	ENSP00000376708:p.Val624Ile	Somatic		Capture	Illumina HiSeq	Phase_I	116038986	A1A5D4|B5MDJ8|Q6ZS39|Q6ZWJ7|Q708C5|Q70UZ8	Missense_Mutation	SNP	ENST00000392982.3	37		.	.	.	.	.	.	.	.	.	.	G	11.49	1.654536	0.29425	0.0	1.16E-4	ENSG00000165816	ENST00000392982;ENST00000298715	D	0.83163	-1.69	5.29	0.284	0.15701	von Willebrand factor, type A (3);	0.296188	0.31612	N	0.007344	T	0.76828	0.4042	M	0.69358	2.11	0.24060	N	0.996019	B;B;B	0.31769	0.021;0.339;0.29	B;B;B	0.30179	0.012;0.112;0.068	T	0.63825	-0.6549	10	0.34782	T	0.22	.	8.8967	0.35470	0.3576:0.0:0.6424:0.0	.	320;624;624	Q5GFL6-3;Q5GFL6;Q5GFL6-2	.;VWA2_HUMAN;.	I	624	ENSP00000376708:V624I	ENSP00000298715:V624I	V	+	1	0	VWA2	116038986	0.998000	0.40836	0.034000	0.17996	0.412000	0.31113	2.672000	0.46850	-0.222000	0.09958	-0.136000	0.14681	GTC		VWA2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050456.3	NM_198496	
ATRNL1	26033	hgsc.bcm.edu	37	10	117228803	117228803	+	Silent	SNP	G	G	A			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr10:117228803G>A	ENST00000355044.3	+	24	3744	c.3618G>A	c.(3616-3618)gtG>gtA	p.V1206V	ATRNL1_ENST00000423111.2_Silent_p.V257V|ATRNL1_ENST00000303745.7_Intron	NM_207303.2	NP_997186.1	Q5VV63	ATRN1_HUMAN	attractin-like 1	1206					G-protein coupled receptor signaling pathway (GO:0007186)|multicellular organismal development (GO:0007275)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)|receptor activity (GO:0004872)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(11)|liver(2)|lung(44)|ovary(6)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	95		all_lung(145;0.0686)|Breast(234;0.0969)|Lung NSC(174;0.17)|Colorectal(252;0.234)		Epithelial(162;0.00031)|all cancers(201;0.000753)|LUSC - Lung squamous cell carcinoma(1;0.0515)|Lung(30;0.0827)		CATTCTATGTGTACGTCAGCA	0.294																																																	0			10											60.0	65.0	63.0					10																	117228803		2196	4280	6476	117218793	SO:0001819	synonymous_variant	26033			AB011106	CCDS7592.1, CCDS73204.1	10q26	2004-03-04			ENSG00000107518	ENSG00000107518			29063	protein-coding gene	gene with protein product		612869				9628581	Standard	NM_001276282		Approved	KIAA0534, FLJ45344, ALP	uc001lcg.3	Q5VV63	OTTHUMG00000019096	ENST00000355044.3:c.3618G>A	10.37:g.117228803G>A		Somatic		Capture	Illumina HiSeq	Phase_I	117218793	O60283|Q5JSE8|Q5T5Y9|Q6T256|Q6ZSN4|Q86WX2	Silent	SNP	ENST00000355044.3	37	CCDS7592.1																																																																																				ATRNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050507.3	XM_049349	
C5orf22	55322	hgsc.bcm.edu	37	5	31538631	31538631	+	Silent	SNP	T	T	C			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr5:31538631T>C	ENST00000325366.9	+	4	769	c.642T>C	c.(640-642)acT>acC	p.T214T	C5orf22_ENST00000355907.3_5'UTR	NM_018356.2	NP_060826.2	Q49AR2	CE022_HUMAN	chromosome 5 open reading frame 22	214										kidney(3)|large_intestine(2)|lung(10)|ovary(2)|skin(1)	18						GTGACCAGACTTGCCTAGAAC	0.458																																																	0			5											68.0	64.0	65.0					5																	31538631		2203	4300	6503	31574388	SO:0001819	synonymous_variant	55322			AK002055	CCDS3895.1	5p13.3	2012-02-22			ENSG00000082213	ENSG00000082213			25639	protein-coding gene	gene with protein product							Standard	NM_018356		Approved	FLJ11193	uc003jhj.4	Q49AR2	OTTHUMG00000131067	ENST00000325366.9:c.642T>C	5.37:g.31538631T>C		Somatic		Capture	Illumina HiSeq	Phase_I	31574388	Q8ND28|Q8WU61|Q9NUR1	Silent	SNP	ENST00000325366.9	37	CCDS3895.1																																																																																				C5orf22-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253726.2	NM_018356	
LIFR	3977	hgsc.bcm.edu	37	5	38485937	38485937	+	Silent	SNP	C	C	A			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr5:38485937C>A	ENST00000263409.4	-	17	2643	c.2481G>T	c.(2479-2481)gtG>gtT	p.V827V	LIFR_ENST00000453190.2_Silent_p.V827V	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	827	Fibronectin type-III 6. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell surface receptor signaling pathway (GO:0007166)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|leukemia inhibitory factor signaling pathway (GO:0048861)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|leukemia inhibitory factor receptor activity (GO:0004923)			NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					CCTTTGTCACCACATACATAC	0.458			T	PLAG1	salivary adenoma																																Melanoma(13;4 730 6426 9861 34751)			Dom	yes		5	5p13-p12	3977	leukemia inhibitory factor receptor		E	0			5											155.0	133.0	140.0					5																	38485937		2203	4300	6503	38521694	SO:0001819	synonymous_variant	3977			X61615	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594		"""CD molecules"", ""Fibronectin type III domain containing"""	6597	protein-coding gene	gene with protein product		151443	"""leukemia inhibitory factor receptor"""			1915266	Standard	NM_001127671		Approved	CD118	uc003jli.2	P42702	OTTHUMG00000131138	ENST00000263409.4:c.2481G>T	5.37:g.38485937C>A		Somatic		Capture	Illumina HiSeq	Phase_I	38521694	Q6LCD9	Silent	SNP	ENST00000263409.4	37	CCDS3927.1																																																																																				LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253823.1	NM_002310	
LIFR	3977	hgsc.bcm.edu	37	5	38510602	38510602	+	Missense_Mutation	SNP	C	C	T			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr5:38510602C>T	ENST00000263409.4	-	7	1117	c.955G>A	c.(955-957)Gaa>Aaa	p.E319K	LIFR_ENST00000453190.2_Missense_Mutation_p.E319K|LIFR_ENST00000503088.1_5'UTR	NM_002310.5	NP_002301.1	P42702	LIFR_HUMAN	leukemia inhibitory factor receptor alpha	319					cell surface receptor signaling pathway (GO:0007166)|ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|leukemia inhibitory factor signaling pathway (GO:0048861)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of cell proliferation (GO:0008284)|response to cytokine (GO:0034097)	extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)	ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|leukemia inhibitory factor receptor activity (GO:0004923)	p.E319K(2)		NS(2)|breast(4)|endometrium(6)|kidney(2)|large_intestine(30)|liver(2)|lung(21)|ovary(3)|skin(5)|stomach(1)|urinary_tract(2)	78	all_lung(31;0.00021)					ATGTTATCTTCGGTTGTAAAA	0.343			T	PLAG1	salivary adenoma																																Melanoma(13;4 730 6426 9861 34751)			Dom	yes		5	5p13-p12	3977	leukemia inhibitory factor receptor		E	2	Substitution - Missense(2)	large_intestine(2)	5											75.0	73.0	73.0					5																	38510602		2203	4300	6503	38546359	SO:0001583	missense	3977			X61615	CCDS3927.1	5p13-p12	2013-02-11	2006-05-17		ENSG00000113594	ENSG00000113594		"""CD molecules"", ""Fibronectin type III domain containing"""	6597	protein-coding gene	gene with protein product		151443	"""leukemia inhibitory factor receptor"""			1915266	Standard	NM_001127671		Approved	CD118	uc003jli.2	P42702	OTTHUMG00000131138	ENST00000263409.4:c.955G>A	5.37:g.38510602C>T	ENSP00000263409:p.Glu319Lys	Somatic		Capture	Illumina HiSeq	Phase_I	38546359	Q6LCD9	Missense_Mutation	SNP	ENST00000263409.4	37	CCDS3927.1	.	.	.	.	.	.	.	.	.	.	C	2.080	-0.410953	0.04799	.	.	ENSG00000113594	ENST00000263409;ENST00000453190	T;T	0.63913	-0.07;-0.07	5.61	0.974	0.19715	.	1.308700	0.04625	N	0.402531	T	0.54240	0.1846	L	0.60455	1.87	0.09310	N	1	B	0.15719	0.014	B	0.08055	0.003	T	0.19712	-1.0297	10	0.15952	T	0.53	-0.358	5.0558	0.14531	0.0:0.5255:0.1571:0.3173	.	319	P42702	LIFR_HUMAN	K	319	ENSP00000263409:E319K;ENSP00000398368:E319K	ENSP00000263409:E319K	E	-	1	0	LIFR	38546359	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	0.217000	0.17603	0.246000	0.21394	-0.181000	0.13052	GAA		LIFR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253823.1	NM_002310	
DDX4	54514	hgsc.bcm.edu	37	5	55056044	55056044	+	Silent	SNP	T	T	C			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr5:55056044T>C	ENST00000505374.1	+	4	236	c.144T>C	c.(142-144)ccT>ccC	p.P48P	DDX4_ENST00000353507.5_Silent_p.P48P|DDX4_ENST00000514278.2_Silent_p.P48P|DDX4_ENST00000354991.5_Silent_p.P48P|SLC38A9_ENST00000504880.1_Intron|DDX4_ENST00000508580.1_3'UTR	NM_024415.2	NP_077726.1	Q9NQI0	DDX4_HUMAN	DEAD (Asp-Glu-Ala-Asp) box polypeptide 4	48					male meiosis I (GO:0007141)|multicellular organismal development (GO:0007275)|regulation of protein localization (GO:0032880)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|pi-body (GO:0071546)|piP-body (GO:0071547)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|nucleic acid binding (GO:0003676)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(8)|ovary(1)|skin(3)|upper_aerodigestive_tract(2)	24		Lung NSC(810;6.93e-05)|all_neural(839;0.00409)|Prostate(74;0.0107)|Breast(144;0.0544)|Ovarian(174;0.223)				ATGATGGACCTTCTCGAAGAG	0.383																																																	0			5											186.0	183.0	184.0					5																	55056044		2203	4300	6503	55091801	SO:0001819	synonymous_variant	54514			AF262962	CCDS3969.1, CCDS47208.1, CCDS54854.1, CCDS54855.1	5p15.2-p13.1	2008-02-05	2003-06-13		ENSG00000152670	ENSG00000152670		"""DEAD-boxes"""	18700	protein-coding gene	gene with protein product		605281	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 4"""			10920202, 11850529	Standard	NM_001142549		Approved	VASA	uc003jqg.4	Q9NQI0	OTTHUMG00000097044	ENST00000505374.1:c.144T>C	5.37:g.55056044T>C		Somatic		Capture	Illumina HiSeq	Phase_I	55091801	A8K8Q2|B3KSF4|D6RDK4|E9PCD8|Q5M7Z3|Q86VX0|Q9NT92|Q9NYB1	Silent	SNP	ENST00000505374.1	37	CCDS3969.1																																																																																				DDX4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214147.2	NM_024415	
APC	324	hgsc.bcm.edu	37	5	112173960	112173960	+	Missense_Mutation	SNP	T	T	C			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr5:112173960T>C	ENST00000457016.1	+	16	3049	c.2669T>C	c.(2668-2670)gTc>gCc	p.V890A	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Missense_Mutation_p.V890A|APC_ENST00000257430.4_Missense_Mutation_p.V890A			P25054	APC_HUMAN	adenomatous polyposis coli	890	Ser-rich.		V -> I (in colorectal carcinoma; from a patient with MMRCS). {ECO:0000269|PubMed:9419979}.		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)		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)		ATTGCCAAAGTCATGGAAGAA	0.458		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"""	1	Unknown(1)	skin(1)	5											81.0	79.0	80.0					5																	112173960		2202	4300	6502	112201859	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.2669T>C	5.37:g.112173960T>C	ENSP00000413133:p.Val890Ala	Somatic		Capture	Illumina HiSeq	Phase_I	112201859	D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	T	17.54	3.416097	0.62511	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	D;D;D;D;D	0.94793	-2.79;-3.52;-2.79;-2.79;-2.96	5.92	4.73	0.59995	.	0.204155	0.41294	D	0.000918	D	0.95401	0.8507	L	0.57536	1.79	0.48632	D	0.999687	D;D	0.64830	0.994;0.987	P;P	0.58520	0.84;0.772	D	0.94642	0.7831	10	0.51188	T	0.08	-3.2462	13.2206	0.59885	0.0:0.0:0.1328:0.8672	.	892;890	Q4LE70;P25054	.;APC_HUMAN	A	890;872;890;890;890	ENSP00000413133:V890A;ENSP00000423224:V872A;ENSP00000257430:V890A;ENSP00000427089:V890A;ENSP00000423828:V890A	ENSP00000257430:V890A	V	+	2	0	APC	112201859	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.921000	0.70028	1.029000	0.39812	0.455000	0.32223	GTC		APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
APC	324	hgsc.bcm.edu	37	5	112174744	112174744	+	Silent	SNP	A	A	G			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr5:112174744A>G	ENST00000457016.1	+	16	3833	c.3453A>G	c.(3451-3453)gaA>gaG	p.E1151E	CTC-554D6.1_ENST00000520401.1_Intron|APC_ENST00000508376.2_Silent_p.E1151E|APC_ENST00000257430.4_Silent_p.E1151E			P25054	APC_HUMAN	adenomatous polyposis coli	1151	Asp/Glu-rich (acidic).|Responsible for down-regulation through a process mediated by direct ubiquitination.|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)		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)		CTGAAGAAGAACAGCATGAAG	0.328		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"""	1	Unknown(1)	skin(1)	5											61.0	60.0	60.0					5																	112174744		2202	4300	6502	112202643	SO:0001819	synonymous_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.3453A>G	5.37:g.112174744A>G		Somatic		Capture	Illumina HiSeq	Phase_I	112202643	D3DT03|Q15162|Q15163|Q93042	Silent	SNP	ENST00000457016.1	37	CCDS4107.1																																																																																				APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038	
HK3	3101	hgsc.bcm.edu	37	5	176314628	176314628	+	Missense_Mutation	SNP	C	C	T			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr5:176314628C>T	ENST00000292432.5	-	11	1515	c.1424G>A	c.(1423-1425)cGt>cAt	p.R475H		NM_002115.2	NP_002106.2	P52790	HXK3_HUMAN	hexokinase 3 (white cell)	475	Hexokinase type-2 1.|Regulatory.				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)			GGCAGCCAGACGGGCAGCCAC	0.647																																																	0			5											33.0	33.0	33.0					5																	176314628		2203	4300	6503	176247234	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.1424G>A	5.37:g.176314628C>T	ENSP00000292432:p.Arg475His	Somatic		Capture	Illumina HiSeq	Phase_I	176247234	Q8N1E7	Missense_Mutation	SNP	ENST00000292432.5	37	CCDS4407.1	.	.	.	.	.	.	.	.	.	.	C	17.07	3.296162	0.60086	.	.	ENSG00000160883	ENST00000292432	D	0.97089	-4.24	4.43	4.43	0.53597	Hexokinase, C-terminal (1);	0.122153	0.37809	N	0.001939	D	0.98160	0.9392	M	0.77103	2.36	0.44976	D	0.997994	D	0.89917	1.0	D	0.79784	0.993	D	0.99094	1.0841	10	0.72032	D	0.01	-16.4523	14.8517	0.70300	0.0:1.0:0.0:0.0	.	475	P52790	HXK3_HUMAN	H	475	ENSP00000292432:R475H	ENSP00000292432:R475H	R	-	2	0	HK3	176247234	1.000000	0.71417	1.000000	0.80357	0.004000	0.04260	5.178000	0.65037	2.007000	0.58848	0.561000	0.74099	CGT		HK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253428.1		
NUP133	55746	hgsc.bcm.edu	37	1	229623211	229623211	+	Splice_Site	SNP	A	A	G			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr1:229623211A>G	ENST00000261396.3	-	10	1434		c.e10+1		NUP133_ENST00000537506.1_Splice_Site	NM_018230.2	NP_060700.2	Q8WUM0	NU133_HUMAN	nucleoporin 133kDa						carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|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)|nuclear pore organization (GO:0006999)|paraxial mesoderm development (GO:0048339)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|kinetochore (GO:0000776)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nuclear pore outer ring (GO:0031080)	nucleocytoplasmic transporter activity (GO:0005487)			NS(1)|breast(7)|endometrium(1)|kidney(6)|large_intestine(9)|lung(20)|ovary(1)|pancreas(1)|prostate(3)|skin(3)|stomach(4)	56	Breast(184;0.104)|Ovarian(103;0.249)	Prostate(94;0.167)				CTGCTACTGTACCTTGTGCAT	0.408																																																	0			1											102.0	101.0	101.0					1																	229623211		2203	4300	6503	227689834	SO:0001630	splice_region_variant	55746				CCDS1579.1	1q42.13	2008-02-05	2002-08-29		ENSG00000069248	ENSG00000069248			18016	protein-coding gene	gene with protein product		607613	"""nucleoporin 133kD"""			11684705	Standard	NM_018230		Approved	FLJ10814	uc001htn.3	Q8WUM0	OTTHUMG00000039462	ENST00000261396.3:c.1342+1T>C	1.37:g.229623211A>G		Somatic		Capture	Illumina HiSeq	Phase_I	227689834	B2RAZ8|Q5T8N0|Q9H9W2|Q9NV71|Q9NVC4	Splice_Site	SNP	ENST00000261396.3	37	CCDS1579.1	.	.	.	.	.	.	.	.	.	.	A	15.51	2.854351	0.51270	.	.	ENSG00000069248	ENST00000366681;ENST00000261396;ENST00000366679;ENST00000537506	.	.	.	5.07	5.07	0.68467	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.6938	0.62564	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	NUP133	227689834	1.000000	0.71417	0.990000	0.47175	0.485000	0.33311	7.667000	0.83888	2.042000	0.60477	0.477000	0.44152	.		NUP133-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095224.1	NM_018230	Intron
SCAP	22937	hgsc.bcm.edu	37	3	47458698	47458698	+	Splice_Site	SNP	C	C	A			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr3:47458698C>A	ENST00000265565.5	-	18	3383		c.e18-1		SCAP_ENST00000441517.2_Splice_Site|SCAP_ENST00000545718.1_Splice_Site	NM_012235.2	NP_036367.2	Q12770	SCAP_HUMAN	SREBF chaperone						aging (GO:0007568)|cholesterol metabolic process (GO:0008203)|negative regulation of cholesterol biosynthetic process (GO:0045541)|positive regulation of low-density lipoprotein particle receptor biosynthetic process (GO:0045716)|regulation of fatty acid biosynthetic process (GO:0042304)|response to hypoxia (GO:0001666)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)|SREBP signaling pathway (GO:0032933)	cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|protein complex (GO:0043234)	unfolded protein binding (GO:0051082)			endometrium(4)|kidney(1)|large_intestine(4)|liver(1)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)	26				BRCA - Breast invasive adenocarcinoma(193;0.000278)|KIRC - Kidney renal clear cell carcinoma(197;0.00592)|Kidney(197;0.00679)		CGTCCCACACCTACGAGTCCA	0.632																																					Pancreas(149;978 1908 29304 37806 46700)												0			3											72.0	58.0	63.0					3																	47458698		2203	4300	6503	47433702	SO:0001630	splice_region_variant	22937			BC020987	CCDS2755.2	3p21.31	2013-01-10			ENSG00000114650	ENSG00000114650		"""WD repeat domain containing"""	30634	protein-coding gene	gene with protein product	"""SREBP cleavage activating protein"""	601510				8898195, 8724849, 10570913	Standard	XM_005264967		Approved	KIAA0199	uc003crh.1	Q12770	OTTHUMG00000125539	ENST00000265565.5:c.2971-1G>T	3.37:g.47458698C>A		Somatic		Capture	Illumina HiSeq	Phase_I	47433702	Q8N2E0|Q8WUA1	Splice_Site	SNP	ENST00000265565.5	37	CCDS2755.2	.	.	.	.	.	.	.	.	.	.	C	17.62	3.434137	0.62955	.	.	ENSG00000114650	ENST00000339815;ENST00000360832;ENST00000265565;ENST00000441517;ENST00000545718	.	.	.	4.74	4.74	0.60224	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.5002	0.87728	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	SCAP	47433702	1.000000	0.71417	1.000000	0.80357	0.491000	0.33493	7.141000	0.77330	2.466000	0.83321	0.561000	0.74099	.		SCAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000246872.2	NM_012235	Intron
CACNA1B	774	hgsc.bcm.edu	37	9	140773613	140773613	+	Splice_Site	SNP	T	T	A	rs201604190		TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr9:140773613T>A	ENST00000371372.1	+	2	535		c.e2+2		CACNA1B_ENST00000371355.4_Splice_Site|CACNA1B_ENST00000371357.1_Splice_Site|CACNA1B_ENST00000277549.5_Splice_Site|RP11-188C12.3_ENST00000371390.1_RNA|CACNA1B_ENST00000371363.1_Splice_Site|CACNA1B_ENST00000277551.2_Splice_Site	NM_000718.3|NM_001243812.1	NP_000709.1|NP_001230741.1	Q00975	CAC1B_HUMAN	calcium channel, voltage-dependent, N type, alpha 1B subunit						calcium ion import (GO:0070509)|locomotory behavior (GO:0007626)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|neurotransmitter secretion (GO:0007269)|regulation of blood pressure (GO:0008217)|regulation of calcium ion transport (GO:0051924)|regulation of heart contraction (GO:0008016)|response to pain (GO:0048265)|synaptic transmission (GO:0007268)|transport (GO:0006810)	dendrite (GO:0030425)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|protein C-terminus binding (GO:0008022)|voltage-gated calcium channel activity (GO:0005245)	p.?(2)		NS(3)|autonomic_ganglia(1)|breast(7)|central_nervous_system(1)|endometrium(10)|kidney(2)|large_intestine(17)|lung(31)|ovary(1)|prostate(1)|skin(2)|stomach(2)|urinary_tract(2)	80	all_cancers(76;0.166)			OV - Ovarian serous cystadenocarcinoma(145;1.16e-05)|Epithelial(140;0.000476)	Amlodipine(DB00381)|Gabapentin(DB00996)|Levetiracetam(DB01202)|Spironolactone(DB00421)|Verapamil(DB00661)	GAGCGGCTGGTGAGTGCCCGG	0.632																																																	2	Unknown(2)	lung(1)|breast(1)	9											25.0	29.0	28.0					9																	140773613		2104	4235	6339	139893434	SO:0001630	splice_region_variant	774			AB209467	CCDS59522.1, CCDS59523.1	9q34	2013-01-10	2007-02-16		ENSG00000148408	ENSG00000148408		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1389	protein-coding gene	gene with protein product		601012		CACNL1A5		8825650, 16382099	Standard	NM_000718		Approved	Cav2.2, CACNN	uc004cog.3	Q00975	OTTHUMG00000021002	ENST00000371372.1:c.390+2T>A	9.37:g.140773613T>A		Somatic		Capture	Illumina HiSeq	Phase_I	139893434	B1AQK5	Splice_Site	SNP	ENST00000371372.1	37	CCDS59522.1	.	.	.	.	.	.	.	.	.	.	T	20.3	3.975539	0.74360	.	.	ENSG00000148408	ENST00000371372;ENST00000277551;ENST00000371363;ENST00000371357;ENST00000371355	.	.	.	4.73	3.57	0.40892	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.6445	0.51253	0.0:0.0:0.1485:0.8515	.	.	.	.	.	-1	.	.	.	+	.	.	CACNA1B	139893434	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	7.830000	0.86741	0.644000	0.30656	0.459000	0.35465	.		CACNA1B-001	KNOWN	non_canonical_conserved|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000055380.1	NM_000718	Intron
RNF17	56163	hgsc.bcm.edu	37	13	25374502	25374502	+	Splice_Site	SNP	A	A	G			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr13:25374502A>G	ENST00000255324.5	+	13	1641		c.e13-1		RNF17_ENST00000255325.6_Splice_Site|RNF17_ENST00000381921.1_Splice_Site	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17						multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		AATTTCTCCTAGAGTTGTTGA	0.318																																																	0			13											88.0	93.0	91.0					13																	25374502		2203	4300	6503	24272502	SO:0001630	splice_region_variant	56163			AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"""RING-type (C3HC4) zinc fingers"", ""Tudor domain containing"""	10060	protein-coding gene	gene with protein product	"""spermatogenesis associated 23"""	605793	"""tudor domain containing 4"""	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.1590-1A>G	13.37:g.25374502A>G		Somatic		Capture	Illumina HiSeq	Phase_I	24272502	Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Splice_Site	SNP	ENST00000255324.5	37	CCDS9308.2	.	.	.	.	.	.	.	.	.	.	A	9.643	1.139523	0.21205	.	.	ENSG00000132972	ENST00000255324;ENST00000381921;ENST00000429047;ENST00000255325	.	.	.	4.44	4.44	0.53790	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.0965	0.59195	1.0:0.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	RNF17	24272502	1.000000	0.71417	0.976000	0.42696	0.095000	0.18619	3.327000	0.52045	1.985000	0.57927	0.460000	0.39030	.		RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994	Intron
PRG4	10216	hgsc.bcm.edu	37	1	186276284	186276286	+	In_Frame_Del	DEL	CTC	CTC	-	rs200031345|rs145095882|rs143141440	byFrequency	TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	CTC	CTC					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr1:186276284_186276286delCTC	ENST00000445192.2	+	7	1478_1480	c.1433_1435delCTC	c.(1432-1437)actccc>acc	p.P479del	PRG4_ENST00000367486.3_In_Frame_Del_p.P436del|PRG4_ENST00000367484.3_Intron|PRG4_ENST00000367485.4_In_Frame_Del_p.P386del|PRG4_ENST00000367483.4_In_Frame_Del_p.P438del	NM_005807.3	NP_005798.2	Q92954	PRG4_HUMAN	proteoglycan 4	479	59 X 8 AA repeats of K-X-P-X-P-T-T-X.				cell proliferation (GO:0008283)|hematopoietic stem cell proliferation (GO:0071425)|immune response (GO:0006955)|negative regulation of interleukin-6 biosynthetic process (GO:0045409)|regulation of cell proliferation (GO:0042127)	extracellular space (GO:0005615)	polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.P479delP(1)		NS(2)|breast(1)|central_nervous_system(1)|endometrium(26)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(12)|lung(33)|prostate(7)|skin(9)|upper_aerodigestive_tract(2)|urinary_tract(1)	102						GCACCCACCACTCCCAAAGAGCC	0.650																																																	1	Deletion - In frame(1)	large_intestine(1)	1							,,,	348,3912		14,320,1796					,,,	-1.4	0.0			89	1023,7215		71,881,3167	no	coding,coding,coding,coding	PRG4	NM_005807.3,NM_001127710.1,NM_001127709.1,NM_001127708.1	,,,	85,1201,4963	A1A1,A1R,RR		12.4181,8.169,10.9698	,,,	,,,		1371,11127				184542909	SO:0001651	inframe_deletion	23572			U70136	CCDS1369.1, CCDS44287.1, CCDS44288.1	1q25-q31	2008-07-18	2004-11-15		ENSG00000116690	ENSG00000116690			9364	protein-coding gene	gene with protein product	"""lubricin"", ""megakaryocyte stimulating factor"", ""articular superficial zone protein"", ""Jacobs camptodactyly-arthropathy-pericarditis syndrome"", ""camptodactyly, arthropathy, coxa vara, pericarditis syndrome"", ""bG174L6.2 (MSF: megakaryocyte stimulating factor )"""	604283	"""proteoglycan 4, (megakaryocyte stimulating factor, articular superficial zone protein, camptodactyly, arthropathy, coxa vara, pericarditis syndrome)"""	CACP		10545950, 9920774	Standard	NM_005807		Approved	JCAP, SZP, MSF, HAPO, bG174L6.2, FLJ32635	uc001gru.4	Q92954	OTTHUMG00000035574	ENST00000445192.2:c.1433_1435delCTC	1.37:g.186276284_186276286delCTC	ENSP00000399679:p.Pro479del	Somatic		Capture	Illumina HiSeq	Phase_I	184542907	Q6DNC4|Q6DNC5|Q6ZMZ5|Q9BX49	In_Frame_Del	DEL	ENST00000445192.2	37	CCDS1369.1																																																																																				PRG4-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000086346.1	NM_005807	
SCTR	6344	hgsc.bcm.edu	37	2	120194651	120194652	+	IGR	INS	-	-	GTGTGC	rs3217464|rs201433053|rs201077606	byFrequency	TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr2:120194651_120194652insGTGTGC	ENST00000019103.5	-	0	1865				TMEM37_ENST00000409826.1_In_Frame_Ins_p.82_82T>SVP|TMEM37_ENST00000465296.1_3'UTR|TMEM37_ENST00000306406.4_In_Frame_Ins_p.70_70T>SVP	NM_002980.2	NP_002971.2	P47872	SCTR_HUMAN	secretin receptor						digestion (GO:0007586)|excretion (GO:0007588)|G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasmic microtubule (GO:0005881)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	secretin receptor activity (GO:0015055)	p.T70>SVP(1)		central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)|skin(3)	19					Secretin(DB00021)	CACCAACCAGACGATCTGCTTC	0.668														4489	0.896366	0.9705	0.8386	5008	,	,		15646	0.8919		0.8748	False		,,,				2504	0.864																1	Complex - insertion inframe(1)	ovary(1)	2								4023,213		1924,175,19						3.4	0.6		dbSNP_126	56	6958,1218		3018,922,148	no	coding	TMEM37	NM_183240.2		4942,1097,167	A1A1,A1R,RR		14.8973,5.0283,11.5292				10981,1431				119911122	SO:0001628	intergenic_variant	140738				CCDS2127.1	2q14.1	2012-08-10			ENSG00000080293	ENSG00000080293		"""GPCR / Class B : Glucagon receptors"""	10608	protein-coding gene	gene with protein product		182098				1646711	Standard	NM_002980		Approved		uc002tma.3	P47872	OTTHUMG00000131407		2.37:g.120194651_120194652insGTGTGC		Somatic		Capture	Illumina HiSeq	Phase_I	119911121	Q12961|Q13213|Q53T00	In_Frame_Ins	INS	ENST00000019103.5	37	CCDS2127.1																																																																																				SCTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254198.2		
CRIPAK	285464	hgsc.bcm.edu	37	4	1388622	1388623	+	Frame_Shift_Ins	INS	-	-	CA	rs79704405|rs540461234|rs558358960	byFrequency	TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr4:1388622_1388623insCA	ENST00000324803.4	+	1	3283_3284	c.323_324insCA	c.(322-327)ctcacgfs	p.LT108fs		NM_175918.3	NP_787114.2	Q8N1N5	CRPAK_HUMAN	cysteine-rich PAK1 inhibitor	108					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.L108H(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)			GCCCGCCTGCTCACGTGCCCAT	0.668														506	0.101038	0.0567	0.1427	5008	,	,		19207	0.0169		0.1759	False		,,,				2504	0.1411																1	Substitution - Missense(1)	pancreas(1)	4																																								1378623	SO:0001589	frameshift_variant	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.324_325dupCA	4.37:g.1388623_1388624dupCA	ENSP00000323978:p.Leu108fs	Somatic		Capture	Illumina HiSeq	Phase_I	1378622	Q8NB03	Frame_Shift_Ins	INS	ENST00000324803.4	37	CCDS3349.1																																																																																				CRIPAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000241607.2	NM_175918	
GRK4	2868	hgsc.bcm.edu	37	4	3015470	3015470	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr4:3015470delA	ENST00000398052.4	+	8	999	c.656delA	c.(655-657)caafs	p.Q219fs	GRK4_ENST00000398051.4_Frame_Shift_Del_p.Q187fs|GRK4_ENST00000345167.6_Frame_Shift_Del_p.Q187fs|GRK4_ENST00000504933.1_Frame_Shift_Del_p.Q219fs	NM_182982.2	NP_892027.2	P32298	GRK4_HUMAN	G protein-coupled receptor kinase 4	219	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				G-protein coupled receptor internalization (GO:0002031)|receptor internalization (GO:0031623)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|signal transduction (GO:0007165)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytosol (GO:0005829)|dendrite (GO:0030425)|neuronal cell body (GO:0043025)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|rhodopsin kinase activity (GO:0050254)			lung(1)|upper_aerodigestive_tract(1)	2				UCEC - Uterine corpus endometrioid carcinoma (64;0.168)		AAAAAGCTACAAAAAAAAAGA	0.393																																																	0			4							,,	13,12,4241		0,0,13,6,0,2114					,,	2.9	0.8			136	3,39,8212		0,0,3,19,1,4104	no	codingComplex,codingComplex,codingComplex	GRK4	NM_182982.2,NM_001004057.1,NM_001004056.1	,,	0,0,16,25,1,6218	A1A1,A1A2,A1R,A2A2,A2R,RR		0.5088,0.586,0.5351	,,	,,		16,51,12453				2985268	SO:0001589	frameshift_variant	2868				CCDS33946.1, CCDS33947.1, CCDS47002.1, CCDS68656.1	4p16.3	2008-02-05	2004-02-04	2004-02-06	ENSG00000125388	ENSG00000125388			4543	protein-coding gene	gene with protein product		137026	"""G protein-coupled receptor kinase 2-like (Drosophila)"""	GPRK2L		1338872	Standard	NM_182982		Approved	GPRK4	uc003ggn.1	P32298	OTTHUMG00000159914	ENST00000398052.4:c.656delA	4.37:g.3015470delA	ENSP00000381129:p.Gln219fs	Somatic		Capture	Illumina HiSeq	Phase_I	2985268	O00641|O00642|Q13293|Q13294|Q13295|Q14453|Q14725|Q15313|Q15314|Q15315|Q15316|Q17RH6|Q53EQ8	Frame_Shift_Del	DEL	ENST00000398052.4	37	CCDS33946.1																																																																																				GRK4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000358176.2	NM_005307	
HLA-B	3106	hgsc.bcm.edu	37	6	31324601	31324602	+	Frame_Shift_Ins	INS	-	-	G	rs41562914|rs41541416|rs9281379	byFrequency	TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr6:31324601_31324602insG	ENST00000412585.2	-	2	234_235	c.206_207insC	c.(205-207)gagfs	p.E69fs		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	69	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)	p.E69fs*30(2)		endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						CCCGCGGCTCCTCTCTCGGACT	0.673									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of																																								2	Insertion - Frameshift(2)	large_intestine(2)	6								1399,160,2559		395,63,546,25,47,983						0.1	0.1		dbSNP_130	35	1793,477,5714		469,110,745,86,195,2387	no	codingComplex	HLA-B	NM_005514.6		864,173,1291,111,242,3370	A1A1,A1A2,A1R,A2A2,A2R,RR		28.4319,37.8582,31.6394				3192,637,8273				31432581	SO:0001589	frameshift_variant	3106	Familial Cancer Database	;Lichen Sclerosis, Familial	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4932	protein-coding gene	gene with protein product		142830	"""ankylosing spondylitis"""	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.206_207insC	6.37:g.31324601_31324602insG	ENSP00000399168:p.Glu69fs	Somatic		Capture	Illumina HiSeq	Phase_I	31432580	Q29764	Frame_Shift_Ins	INS	ENST00000412585.2	37	CCDS34394.1																																																																																				HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076280.4	NM_005514	
HLA-B	3106	hgsc.bcm.edu	37	6	31324604	31324604	+	Frame_Shift_Del	DEL	T	T	-	rs9266179|rs200186034	byFrequency	TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr6:31324604delT	ENST00000412585.2	-	2	232	c.204delA	c.(202-204)agafs	p.R68fs		NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B	68	Alpha-1.				antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)	p.E69fs*8(1)		endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						GCGGCTCCTCTCTCGGACTCG	0.677									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of																																								1	Deletion - Frameshift(1)	large_intestine(1)	6								1993,2105		740,513,796	33.0	33.0	33.0			-6.4	0.0	6	dbSNP_118	34	3347,4625		1272,803,1911	no	frameshift	HLA-B	NM_005514.6		2012,1316,2707	A1A1,A1R,RR		41.9844,48.6335,44.2419			31324604	5340,6730	2015	3950	5965	31432583	SO:0001589	frameshift_variant	3106	Familial Cancer Database	;Lichen Sclerosis, Familial	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4932	protein-coding gene	gene with protein product		142830	"""ankylosing spondylitis"""	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.204delA	6.37:g.31324604delT	ENSP00000399168:p.Arg68fs	Somatic		Capture	Illumina HiSeq	Phase_I	31432583	Q29764	Frame_Shift_Del	DEL	ENST00000412585.2	37	CCDS34394.1																																																																																				HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076280.4	NM_005514	
HLA-DQA1	3117	hgsc.bcm.edu	37	6	32609239	32609241	+	In_Frame_Del	DEL	GGT	GGT	-	rs12722072|rs41556812|rs12722074|rs534654325	byFrequency	TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	GGT	GGT					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr6:32609239_32609241delGGT	ENST00000343139.5	+	2	337_339	c.235_237delGGT	c.(235-237)ggtdel	p.G79del	HLA-DQA1_ENST00000395363.1_In_Frame_Del_p.G79del|HLA-DQA1_ENST00000374949.2_In_Frame_Del_p.G79del	NM_002122.3	NP_002113.2	P01909	DQA1_HUMAN	major histocompatibility complex, class II, DQ alpha 1	78	Alpha-1.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cytokine-mediated signaling pathway (GO:0019221)|immune response (GO:0006955)|interferon-gamma-mediated signaling pathway (GO:0060333)|T cell costimulation (GO:0031295)|T cell receptor signaling pathway (GO:0050852)	clathrin-coated endocytic vesicle membrane (GO:0030669)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|membrane (GO:0016020)|MHC class II protein complex (GO:0042613)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)|transport vesicle membrane (GO:0030658)	MHC class II receptor activity (GO:0032395)|peptide antigen binding (GO:0042605)			NS(1)|lung(3)|skin(1)|upper_aerodigestive_tract(1)	6						CAAATTTGGAGGTTTTGACCCGC	0.502														1751	0.349641	0.3646	0.4236	5008	,	,		12241	0.2669		0.4046	False		,,,				2504	0.3057																0			6																																								32717219	SO:0001651	inframe_deletion	3117				CCDS4752.1	6p21.3	2013-01-11			ENSG00000196735	ENSG00000196735		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4942	protein-coding gene	gene with protein product		146880		HLA-DQA			Standard	NM_002122		Approved	CELIAC1	uc003obr.3	P01909	OTTHUMG00000031106	ENST00000343139.5:c.235_237delGGT	6.37:g.32609239_32609241delGGT	ENSP00000339398:p.Gly79del	Somatic		Capture	Illumina HiSeq	Phase_I	32717217	O19630|O19706|P01907|P01908|P04225|P04226|P05536|P79553|Q06751|Q29876|Q29994|Q2Q6Y6|Q2Q6Y7|Q2Q6Y8|Q2WCM3|Q30064|Q30067|Q30068|Q30070|Q30071|Q30072|Q30073|Q30086|Q30101|Q5Y7D5|Q5Y7F5|Q6ICU6|Q6PR46|Q6QDB1|Q860W2|Q860W4|Q9BD37|Q9TPM3|Q9UM31	In_Frame_Del	DEL	ENST00000343139.5	37	CCDS4752.1																																																																																				HLA-DQA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076176.3	NM_002122	
TDRD6	221400	hgsc.bcm.edu	37	6	46658608	46658609	+	Frame_Shift_Ins	INS	-	-	A			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr6:46658608_46658609insA	ENST00000316081.6	+	1	2743_2744	c.2743_2744insA	c.(2743-2745)caafs	p.Q915fs	TDRD6_ENST00000544460.1_Frame_Shift_Ins_p.Q915fs|RP11-446F17.3_ENST00000434329.2_RNA	NM_001010870.2	NP_001010870.1	O60522	TDRD6_HUMAN	tudor domain containing 6	915					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	chromatoid body (GO:0033391)|cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|P granule (GO:0043186)				NS(1)|breast(9)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(15)|lung(25)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	80			Lung(136;0.192)			TAATGCATGGCAAAAAAATCTA	0.342																																																	0			6																																								46766568	SO:0001589	frameshift_variant	221400			AF039442	CCDS34470.1, CCDS55017.1	6p12.3	2013-01-23			ENSG00000180113	ENSG00000180113		"""Tudor domain containing"""	21339	protein-coding gene	gene with protein product	"""cancer/testis antigen 41.2"", ""spermatogenesis associated 36"""	611200				9610721	Standard	NM_001010870		Approved	NY-CO-45, bA446F17.4, CT41.2, SPATA36	uc003oyj.3	O60522	OTTHUMG00000014788	ENST00000316081.6:c.2750dupA	6.37:g.46658615_46658615dupA	ENSP00000346065:p.Gln915fs	Somatic		Capture	Illumina HiSeq	Phase_I	46766567	B3KWU2|F5H5M3|Q5HYB1|Q5VTS4|Q6ZMX5	Frame_Shift_Ins	INS	ENST00000316081.6	37	CCDS34470.1																																																																																				TDRD6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040800.1	XM_166443	
SGK223	157285	hgsc.bcm.edu	37	8	8234868	8234869	+	In_Frame_Ins	INS	-	-	GCCGCT	rs59372311|rs150979349	byFrequency	TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr8:8234868_8234869insGCCGCT	ENST00000520004.1	-	3	1314_1315	c.1050_1051insAGCGGC	c.(1048-1053)ggcgcc>ggcAGCGGCgcc	p.349_350insGS	SGK223_ENST00000330777.4_In_Frame_Ins_p.349_350insGS			Q86YV5	SG223_HUMAN		349							ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)	p.G350_A351insSG(1)|p.G350_S351insSG(1)									GGGCTACTGGCGCCGCTGCCGC	0.653														2980	0.595048	0.7254	0.4942	5008	,	,		15838	0.629		0.3827	False		,,,				2504	0.6738				GBM(34;731 755 10259 33573 33867)												2	Insertion - In frame(2)	breast(2)	8																																								8272279	SO:0001652	inframe_insertion	0																														ENST00000520004.1:c.1045_1050dupAGCGGC	8.37:g.8234869_8234874dupGCCGCT	ENSP00000428054:p.Gly348_Ser349dup	Somatic		Capture	Illumina HiSeq	Phase_I	8272278	Q8N3N5	In_Frame_Ins	INS	ENST00000520004.1	37	CCDS43706.1																																																																																				SGK223-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374864.1		
TFAM	7019	hgsc.bcm.edu	37	10	60148570	60148570	+	Frame_Shift_Del	DEL	A	A	-	rs544132101|rs78912196		TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr10:60148570delA	ENST00000487519.1	+	4	958	c.432delA	c.(430-432)acafs	p.T144fs	TFAM_ENST00000373895.3_Frame_Shift_Del_p.T144fs|TFAM_ENST00000373899.3_3'UTR	NM_001270782.1|NM_003201.2	NP_001257711.1|NP_003192.1	Q00059	TFAM_HUMAN	transcription factor A, mitochondrial	144					DNA-dependent DNA replication (GO:0006261)|gene expression (GO:0010467)|mitochondrial respiratory chain complex assembly (GO:0033108)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase I promoter (GO:0006356)|transcription from mitochondrial promoter (GO:0006390)|transcription initiation from mitochondrial promoter (GO:0006391)	mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|mitochondrial light strand promoter sense binding (GO:0070363)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(1)|lung(4)|prostate(1)	7						AAGCTATGACAAAAAAAAAAG	0.269																																																	0			10											39.0	47.0	44.0					10																	60148570		2195	4296	6491	59818576	SO:0001589	frameshift_variant	7019			BC018628	CCDS7253.1, CCDS59217.1	10q21	2010-09-24			ENSG00000108064	ENSG00000108064			11741	protein-coding gene	gene with protein product		600438		TCF6, TCF6L2		7789991	Standard	NM_003201		Approved		uc001jkf.4	Q00059	OTTHUMG00000018270	ENST00000487519.1:c.432delA	10.37:g.60148570delA	ENSP00000420588:p.Thr144fs	Somatic		Capture	Illumina HiSeq	Phase_I	59818576	A8MRB2|A9QXC6|B5BU05|Q5U0C6	Frame_Shift_Del	DEL	ENST00000487519.1	37	CCDS7253.1																																																																																				TFAM-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048146.1	NM_003201	
RIC8A	60626	hgsc.bcm.edu	37	11	209895	209897	+	In_Frame_Del	DEL	CCC	CCC	-	rs201633036|rs200641500|rs3832797|rs398102296|rs571957041	byFrequency	TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	CCC	CCC					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr11:209895_209897delCCC	ENST00000526104.1	+	3	1965_1967	c.621_623delCCC	c.(619-624)aacccc>aac	p.P210del	BET1L_ENST00000410108.1_5'Flank|BET1L_ENST00000529614.2_5'Flank|BET1L_ENST00000486280.1_5'Flank|RIC8A_ENST00000527696.1_In_Frame_Del_p.P204del|BET1L_ENST00000382762.3_5'Flank|BET1L_ENST00000325147.9_5'Flank|BET1L_ENST00000332865.6_5'Flank|RIC8A_ENST00000325207.5_In_Frame_Del_p.P210del			Q9NPQ8	RIC8A_HUMAN	RIC8 guanine nucleotide exchange factor A	210					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|basement membrane organization (GO:0071711)|cell migration involved in gastrulation (GO:0042074)|cell-cell adhesion involved in gastrulation (GO:0070586)|in utero embryonic development (GO:0001701)|vasculature development (GO:0001944)|visual learning (GO:0008542)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	guanyl-nucleotide exchange factor activity (GO:0005085)			endometrium(3)|kidney(1)|large_intestine(3)|lung(3)|pancreas(1)|prostate(1)|skin(1)	13		all_cancers(49;9.23e-07)|all_epithelial(84;0.000315)|Breast(177;0.00122)|Ovarian(85;0.0202)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;4.45e-27)|Epithelial(43;2.94e-26)|OV - Ovarian serous cystadenocarcinoma(40;5.86e-21)|BRCA - Breast invasive adenocarcinoma(625;3.57e-05)|Lung(200;0.105)|LUSC - Lung squamous cell carcinoma(625;0.122)		CTGAAGGGAACCCCCCACCCACG	0.601														2073	0.413938	0.2519	0.428	5008	,	,		21433	0.7629		0.327	False		,,,				2504	0.3528																0			11								1167,8,3089		173,0,821,4,0,1134						1.2	0.0		dbSNP_107	49	2820,12,5422		493,0,1834,6,0,1794	no	codingComplex	RIC8A	NM_021932.4		666,0,2655,10,0,2928	A1A1,A1A2,A1R,A2A2,A2R,RR		34.3106,27.5563,32.0099				3987,20,8511				199897	SO:0001651	inframe_deletion	60626			AK022870	CCDS7690.1, CCDS65982.1	11p15.5	2013-08-05	2013-08-05		ENSG00000177963	ENSG00000177963			29550	protein-coding gene	gene with protein product		609146	"""resistance to inhibitors of cholinesterase 8 homolog A (C. elegans)"""			10985349, 11230166	Standard	XM_005253052		Approved	synembryn, synembryn-A	uc001lof.3	Q9NPQ8	OTTHUMG00000119069	ENST00000526104.1:c.621_623delCCC	11.37:g.209898_209900delCCC	ENSP00000432008:p.Pro210del	Somatic		Capture	Illumina HiSeq	Phase_I	199895	Q0P508|Q2T9J1|Q7Z352|Q96EZ1|Q96SZ2|Q9H064|Q9H5H3|Q9H9E7	In_Frame_Del	DEL	ENST00000526104.1	37																																																																																					RIC8A-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000384761.1	NM_021932	
SIRT3	23410	hgsc.bcm.edu	37	11	233380	233380	+	Frame_Shift_Del	DEL	C	C	-	rs147810576	byFrequency	TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr11:233380delC	ENST00000382743.4	-	2	538	c.436delG	c.(436-438)gccfs	p.A146fs	SIRT3_ENST00000528702.1_5'UTR|SIRT3_ENST00000524564.1_Intron|SIRT3_ENST00000532956.1_Frame_Shift_Del_p.A146fs|SIRT3_ENST00000529382.1_Frame_Shift_Del_p.A4fs|SIRT3_ENST00000525319.1_Frame_Shift_Del_p.A65fs	NM_001017524.2|NM_012239.5	NP_001017524.1|NP_036371.1	Q9NTG7	SIR3_HUMAN	sirtuin 3	146	Deacetylase sirtuin-type. {ECO:0000255|PROSITE-ProRule:PRU00236}.				aerobic respiration (GO:0009060)|peptidyl-lysine deacetylation (GO:0034983)|protein ADP-ribosylation (GO:0006471)|protein deacetylation (GO:0006476)	membrane (GO:0016020)|mitochondrion (GO:0005739)	NAD+ ADP-ribosyltransferase activity (GO:0003950)|NAD+ binding (GO:0070403)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|zinc ion binding (GO:0008270)			endometrium(1)|lung(5)|urinary_tract(1)	7		all_cancers(49;1.58e-09)|all_epithelial(84;2.71e-06)|Breast(177;0.000162)|Ovarian(85;0.000626)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.0538)|all_lung(207;0.0713)		all cancers(45;3.66e-27)|Epithelial(43;2.02e-26)|OV - Ovarian serous cystadenocarcinoma(40;2.9e-21)|BRCA - Breast invasive adenocarcinoma(625;3.88e-05)|Lung(200;0.111)|LUSC - Lung squamous cell carcinoma(625;0.129)		CTGATGCCGGCCCCCACCATG	0.632																																																	0			11											83.0	71.0	75.0					11																	233380		2203	4300	6503	223380	SO:0001589	frameshift_variant	23410			AF083108	CCDS7691.1, CCDS53590.1	11p15.5	2010-06-25	2010-06-25		ENSG00000142082	ENSG00000142082			14931	protein-coding gene	gene with protein product		604481	"""sirtuin (silent mating type information regulation 2, S.cerevisiae, homolog) 3"", ""sirtuin (silent mating type information regulation 2 homolog) 3 (S. cerevisiae)"""			10381378, 18215119	Standard	NM_012239		Approved	SIR2L3	uc001lok.4	Q9NTG7	OTTHUMG00000119074	ENST00000382743.4:c.436delG	11.37:g.233380delC	ENSP00000372191:p.Ala146fs	Somatic		Capture	Illumina HiSeq	Phase_I	223380	B7Z5U6|Q9Y6E8	Frame_Shift_Del	DEL	ENST00000382743.4	37	CCDS7691.1																																																																																				SIRT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239288.3		
MUC6	4588	hgsc.bcm.edu	37	11	1018089	1018089	+	Frame_Shift_Del	DEL	G	G	-	rs368342230		TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr11:1018089delG	ENST00000421673.2	-	31	4762	c.4712delC	c.(4711-4713)ccafs	p.P1572fs		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1572	Pro-rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GGTGAAGGGTGGTGGTGGCCT	0.577																																																	0			11											258.0	266.0	263.0					11																	1018089		2180	4263	6443	1008089	SO:0001589	frameshift_variant	4588			U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.4712delC	11.37:g.1018089delG	ENSP00000406861:p.Pro1572fs	Somatic		Capture	Illumina HiSeq	Phase_I	1008089	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Frame_Shift_Del	DEL	ENST00000421673.2	37	CCDS44513.1																																																																																				MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540	
MUC6	4588	hgsc.bcm.edu	37	11	1018093	1018094	+	Frame_Shift_Ins	INS	-	-	T	rs376177791|rs372288551		TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr11:1018093_1018094insT	ENST00000421673.2	-	31	4757_4758	c.4707_4708insA	c.(4705-4710)ccaccafs	p.P1570fs		NM_005961.2	NP_005952.2	Q6W4X9	MUC6_HUMAN	mucin 6, oligomeric mucus/gel-forming	1570	Pro-rich.|Thr-rich.				cellular protein metabolic process (GO:0044267)|maintenance of gastrointestinal epithelium (GO:0030277)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular region (GO:0005576)|Golgi lumen (GO:0005796)	extracellular matrix structural constituent (GO:0005201)			breast(1)|central_nervous_system(1)|cervix(2)|endometrium(8)|kidney(10)|large_intestine(6)|lung(43)|ovary(4)|prostate(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	80		all_cancers(49;3.3e-08)|all_epithelial(84;5.08e-05)|Breast(177;0.000307)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		all cancers(45;1.24e-24)|BRCA - Breast invasive adenocarcinoma(625;0.00031)|Lung(200;0.0576)|LUSC - Lung squamous cell carcinoma(625;0.0703)		AAGGGTGGTGGTGGCCTGCTGC	0.574																																																	0			11																																								1008094	SO:0001589	frameshift_variant	4588			U97698, AY312160	CCDS44513.1	11p15.5	2008-02-05	2006-03-14		ENSG00000184956	ENSG00000184956		"""Mucins"""	7517	protein-coding gene	gene with protein product		158374	"""mucin 6, gastric"""			7680650	Standard	NM_005961		Approved		uc001lsw.2	Q6W4X9	OTTHUMG00000165140	ENST00000421673.2:c.4708dupA	11.37:g.1018094_1018094dupT	ENSP00000406861:p.Pro1570fs	Somatic		Capture	Illumina HiSeq	Phase_I	1008093	O15329|Q14394|Q2TUQ5|Q4L207|Q8N8I1|Q8NAK1	Frame_Shift_Ins	INS	ENST00000421673.2	37	CCDS44513.1																																																																																				MUC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382120.2	XM_290540	
CASP5	838	hgsc.bcm.edu	37	11	104879687	104879687	+	Frame_Shift_Del	DEL	T	T	-	rs372526393		TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr11:104879687delT	ENST00000260315.3	-	2	27	c.28delA	c.(28-30)aggfs	p.R11fs	CASP5_ENST00000393141.2_Frame_Shift_Del_p.R24fs|CASP5_ENST00000393139.2_5'UTR|CASP5_ENST00000526056.1_Frame_Shift_Del_p.R24fs|CASP5_ENST00000531367.1_Intron|CASP5_ENST00000444749.2_Intron|CASP5_ENST00000418434.1_Intron			P51878	CASP5_HUMAN	caspase 5, apoptosis-related cysteine peptidase	11					apoptotic process (GO:0006915)|cellular response to mechanical stimulus (GO:0071260)|execution phase of apoptosis (GO:0097194)|proteolysis (GO:0006508)|regulation of apoptotic process (GO:0042981)|regulation of inflammatory response (GO:0050727)|substantia nigra development (GO:0021762)	cytoplasm (GO:0005737)|NLRP1 inflammasome complex (GO:0072558)	cysteine-type endopeptidase activity (GO:0004197)|cysteine-type peptidase activity (GO:0008234)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(15)|ovary(3)|skin(1)|urinary_tract(1)	35		Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0017)|Melanoma(852;0.0047)		BRCA - Breast invasive adenocarcinoma(274;0.000943)|Epithelial(105;0.0104)|all cancers(92;0.042)		TTCTTACGCCTTTTTTTTTTG	0.388																																																	0			11							,,,	18,749,3497		0,0,18,1,747,1366	101.0	98.0	99.0		,,,	-1.9	0.0	11		107	8,1495,6751		0,0,8,0,1495,2624	no	codingComplex,codingComplex,intron,intron	CASP5	NM_004347.3,NM_001136112.1,NM_001136110.1,NM_001136109.1	,,,	0,0,26,1,2242,3990	A1A1,A1A2,A1R,A2A2,A2R,RR		18.2094,17.9878,18.1339	,,,	,,,	104879687	26,2244,10248	2201	4299	6500	104384897	SO:0001589	frameshift_variant	838				CCDS8328.2, CCDS44718.1, CCDS44719.1, CCDS44720.1	11q22.2-q22.3	2006-02-17	2005-08-17		ENSG00000137757	ENSG00000137757		"""Caspases"""	1506	protein-coding gene	gene with protein product		602665	"""caspase 5, apoptosis-related cysteine protease"""			7797592, 9250871	Standard	NM_004347		Approved	ICE(rel)III	uc010ruz.1	P51878	OTTHUMG00000048073	ENST00000260315.3:c.28delA	11.37:g.104879687delT	ENSP00000260315:p.Arg11fs	Somatic		Capture	Illumina HiSeq	Phase_I	104384897	B4DKP5|Q0QVY7|Q0QVY8|Q0QVZ0|Q0QVZ1|Q0QVZ2|Q14DD6|Q1HBJ3|Q6DJV7	Frame_Shift_Del	DEL	ENST00000260315.3	37	CCDS8328.2																																																																																				CASP5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109397.2	NM_004347	
DDHD1	80821	hgsc.bcm.edu	37	14	53619480	53619481	+	In_Frame_Ins	INS	-	-	GCCGCC	rs140904345|rs55671452|rs200797826	byFrequency	TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr14:53619480_53619481insGCCGCC	ENST00000323669.5	-	1	335_336	c.336_337insGGCGGC	c.(334-339)ggcagc>ggcGGCGGCagc	p.111_112insGG	AL356020.1_ENST00000584587.1_RNA|DDHD1_ENST00000357758.3_In_Frame_Ins_p.111_112insGG|RP11-547D23.1_ENST00000554235.1_RNA|DDHD1_ENST00000395606.1_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		
IFI27	3429	hgsc.bcm.edu	37	14	94582130	94582131	+	In_Frame_Ins	INS	-	-	GGCCATGGC	rs3833507	byFrequency	TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr14:94582130_94582131insGGCCATGGC	ENST00000555744.1	+	4	313_314	c.125_126insGGCCATGGC	c.(124-129)gtggct>gtGGCCATGGCggct	p.43_44insMAA	IFI27_ENST00000448882.1_In_Frame_Ins_p.46_47insMAA|IFI27_ENST00000298902.5_In_Frame_Ins_p.43_44insMAA|IFI27_ENST00000557098.1_De_novo_Start_InFrame|IFI27_ENST00000557634.1_In_Frame_Ins_p.33_34insMAA|IFI27_ENST00000444961.1_Splice_Site_p.46_47insMAA			P40305	IFI27_HUMAN	interferon, alpha-inducible protein 27	43					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic signaling pathway (GO:0097190)|cytokine-mediated signaling pathway (GO:0019221)|type I interferon signaling pathway (GO:0060337)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)		p.A43_V44insMAA(1)		breast(1)|lung(3)	4				Epithelial(152;0.112)|all cancers(159;0.187)|COAD - Colon adenocarcinoma(157;0.206)		CCTGCAGTTGTGGCTGTGCCCA	0.629														3294	0.657748	0.8306	0.5591	5008	,	,		18519	0.5486		0.6282	False		,,,				2504	0.637				GBM(128;797 1667 20895 29868 47129)												1	Insertion - In frame(1)	breast(1)	14								3129,1037		1234,661,188						-1.5	0.0		dbSNP_107	13	4889,3239		1588,1713,763	no	coding	IFI27	NM_005532.3		2822,2374,951	A1A1,A1R,RR		39.8499,24.892,34.7812				8018,4276				93651884	SO:0001652	inframe_insertion	3429			X67325	CCDS32148.1	14q32.12	2012-10-02			ENSG00000165949	ENSG00000165949			5397	protein-coding gene	gene with protein product		600009				8358738	Standard	NM_005532		Approved	P27, FAM14D	uc021sba.1	P40305	OTTHUMG00000171303	Exception_encountered	14.37:g.94582130_94582131insGGCCATGGC	ENSP00000451956:p.Ala43_Val44insMetAlaAla	Somatic		Capture	Illumina HiSeq	Phase_I	93651883	Q53YA6|Q6IEC1|Q96BK3	In_Frame_Ins	INS	ENST00000555744.1	37	CCDS32148.1																																																																																				IFI27-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000412889.1	NM_005532	
TP53	7157	hgsc.bcm.edu	37	17	7579406	7579407	+	Frame_Shift_Ins	INS	-	-	AC			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr17:7579406_7579407insAC	ENST00000269305.4	-	4	469_470	c.280_281insGT	c.(280-282)tcafs	p.S94fs	TP53_ENST00000359597.4_Frame_Shift_Ins_p.S94fs|TP53_ENST00000413465.2_Frame_Shift_Ins_p.S94fs|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000455263.2_Frame_Shift_Ins_p.S94fs|TP53_ENST00000420246.2_Frame_Shift_Ins_p.S94fs|TP53_ENST00000445888.2_Frame_Shift_Ins_p.S94fs	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	94	Interaction with WWOX.		S -> L (in sporadic cancers; somatic mutation).|S -> T (in sporadic cancers; 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.0?(8)|p.S94*(3)|p.G59fs*23(3)|p.S94T(2)|p.V73fs*9(1)|p.S94fs*29(1)|p.S94fs*54(1)|p.A88fs*52(1)|p.W91fs*13(1)|p.P87fs*54(1)|p.P13fs*18(1)|p.S33fs*23(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)	GACAGAAGATGACAGGGGCCAG	0.624		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"""	24	Deletion - Frameshift(11)|Whole gene deletion(8)|Substitution - Nonsense(3)|Substitution - Missense(2)	bone(4)|upper_aerodigestive_tract(3)|lung(3)|breast(3)|large_intestine(2)|central_nervous_system(2)|haematopoietic_and_lymphoid_tissue(2)|oesophagus(2)|stomach(1)|urinary_tract(1)|liver(1)	17																																								7520132	SO:0001589	frameshift_variant	7157	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.279_280dupGT	17.37:g.7579407_7579408dupAC	ENSP00000269305:p.Ser94fs	Somatic		Capture	Illumina HiSeq	Phase_I	7520131	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	Frame_Shift_Ins	INS	ENST00000269305.4	37	CCDS11118.1																																																																																				TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	
AXIN2	8313	hgsc.bcm.edu	37	17	63554408	63554408	+	Frame_Shift_Del	DEL	A	A	-			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	A	A					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr17:63554408delA	ENST00000375702.5	-	1	439	c.331delT	c.(331-333)tggfs	p.W111fs	AXIN2_ENST00000307078.5_Frame_Shift_Del_p.W111fs|CTD-2535L24.2_ENST00000577662.1_3'UTR			Q9Y2T1	AXIN2_HUMAN	axin 2	111	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				bone mineralization (GO:0030282)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to organic cyclic compound (GO:0071407)|chondrocyte differentiation involved in endochondral bone morphogenesis (GO:0003413)|dorsal/ventral axis specification (GO:0009950)|intramembranous ossification (GO:0001957)|maintenance of DNA repeat elements (GO:0043570)|mRNA stabilization (GO:0048255)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catenin import into nucleus (GO:0035414)|negative regulation of cell proliferation (GO:0008285)|negative regulation of osteoblast differentiation (GO:0045668)|odontogenesis (GO:0042476)|positive regulation of cell death (GO:0010942)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of GTPase activity (GO:0043547)|positive regulation of protein phosphorylation (GO:0001934)|regulation of centromeric sister chromatid cohesion (GO:0070602)|regulation of chondrocyte development (GO:0061181)|regulation of mismatch repair (GO:0032423)|secondary heart field specification (GO:0003139)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	beta-catenin destruction complex (GO:0030877)|cell cortex (GO:0005938)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic microtubule (GO:0005881)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	armadillo repeat domain binding (GO:0070016)|beta-catenin binding (GO:0008013)|enzyme binding (GO:0019899)|GTPase activator activity (GO:0005096)|protein kinase binding (GO:0019901)|ubiquitin protein ligase binding (GO:0031625)			NS(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	34						CAGGCAAACCAGAAGTCTAAG	0.463									Oligodontia, Ectodermal Dysplasia and Colorectal Polyp syndrome																																								0			17											214.0	196.0	202.0					17																	63554408		2203	4300	6503	60984870	SO:0001589	frameshift_variant	8313	Familial Cancer Database	Oligodontia-Colorectal Cancer syndrome, Tooth Agenesis-Colorectal Cancer Syndrome	AF078165	CCDS11662.1	17q24.1	2014-09-17	2008-08-01		ENSG00000168646				904	protein-coding gene	gene with protein product	"""conductin"", ""axil"""	604025				10049590	Standard	NM_004655		Approved	MGC126582, DKFZp781B0869	uc002jfi.3	Q9Y2T1	OTTHUMG00000179353	ENST00000375702.5:c.331delT	17.37:g.63554408delA	ENSP00000364854:p.Trp111fs	Somatic		Capture	Illumina HiSeq	Phase_I	60984870	Q3MJ88|Q9H3M6|Q9UH84	Frame_Shift_Del	DEL	ENST00000375702.5	37																																																																																					AXIN2-004	NOVEL	basic|exp_conf	protein_coding	protein_coding	OTTHUMT00000445901.1	NM_004655	
ZNF516	9658	hgsc.bcm.edu	37	18	74090958	74090958	+	Frame_Shift_Del	DEL	G	G	-	rs398079646|rs398033573|rs56087742		TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr18:74090958delG	ENST00000443185.2	-	5	3428	c.3111delC	c.(3109-3111)cccfs	p.P1037fs	ZNF516_ENST00000524431.2_5'UTR|RP11-504I13.3_ENST00000583287.1_RNA	NM_014643.3	NP_055458.1	Q92618	ZN516_HUMAN	zinc finger protein 516	1037					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	32		Prostate(75;0.0869)|Esophageal squamous(42;0.129)		OV - Ovarian serous cystadenocarcinoma(15;7.64e-06)|BRCA - Breast invasive adenocarcinoma(31;0.238)		AGTGTAGGACGGGGGGGCGCC	0.652													GGGGGG|GGGGGGG|GGGGGG|insertion	5008	1.0	1.0	1.0	5008	,	,		13278	1.0		1.0	False		,,,				2504	1.0																0			18								3517,17		1755,7,5	7.0	7.0	7.0			-0.6	0.0	18	dbSNP_131	33	7701,27		3846,9,9	no	frameshift	ZNF516	NM_014643.3		5601,16,14	A1A1,A1R,RR		0.3494,0.481,0.3907			74090958	11218,44	1730	3829	5559	72219946	SO:0001589	frameshift_variant	9658			D86975	CCDS74234.1	18q23	2013-01-08				ENSG00000101493		"""Zinc fingers, C2H2-type"""	28990	protein-coding gene	gene with protein product		615114				9039502	Standard	NM_014643		Approved	HsT287, KIAA0222	uc021ulp.1	Q92618		ENST00000443185.2:c.3111delC	18.37:g.74090958delG	ENSP00000394757:p.Pro1037fs	Somatic		Capture	Illumina HiSeq	Phase_I	72219946		Frame_Shift_Del	DEL	ENST00000443185.2	37																																																																																					ZNF516-201	KNOWN	basic|appris_principal|exp_conf	protein_coding	protein_coding		NM_014643	
PROSER3	148137	hgsc.bcm.edu	37	19	36258938	36258938	+	Frame_Shift_Del	DEL	G	G	-	rs398034467|rs5827939		TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	G	G					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr19:36258938delG	ENST00000544099.1	+	9	1254	c.1191delG	c.(1189-1191)cagfs	p.Q397fs	AC002398.13_ENST00000589397.1_RNA|C19orf55_ENST00000396908.4_Splice_Site_p.Q397fs			Q2NL68	PRSR3_HUMAN		326										cervix(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(3)|ovary(2)|prostate(1)	15	all_lung(56;2.87e-07)|Lung NSC(56;4.32e-07)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0515)			TGCTTGCCCAGGGCCGCCCTG	0.731													GG|GGG|GG|insertion	5008	1.0	1.0	1.0	5008	,	,		11178	1.0		1.0	False		,,,				2504	1.0																0			19											1.0	1.0	1.0					19																	36258938		567	1236	1803	40950778	SO:0001589	frameshift_variant	148137																														ENST00000544099.1:c.1191delG	19.37:g.36258938delG	ENSP00000467267:p.Gln397fs	Somatic		Capture	Illumina HiSeq	Phase_I	40950778	Q8NDI3|Q8WWC8|Q96NL4	Frame_Shift_Del	DEL	ENST00000544099.1	37																																																																																					C19orf55-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000398160.2		
TSKS	60385	hgsc.bcm.edu	37	19	50249933	50249950	+	In_Frame_Del	DEL	CTGCTTCTCCTCCGGCTC	CTGCTTCTCCTCCGGCTC	-	rs76911687|rs550916960|rs376063874|rs59626794	byFrequency	TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	CTGCTTCTCCTCCGGCTC	CTGCTTCTCCTCCGGCTC					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr19:50249933_50249950delCTGCTTCTCCTCCGGCTC	ENST00000246801.3	-	6	851_868	c.769_786delGAGCCGGAGGAGAAGCAG	c.(769-786)gagccggaggagaagcagdel	p.EPEEKQ257del	TSKS_ENST00000358830.3_In_Frame_Del_p.EPEEKQ57del	NM_021733.1	NP_068379.1	Q9UJT2	TSKS_HUMAN	testis-specific serine kinase substrate	257					negative regulation of phosphatase activity (GO:0010923)	centriole (GO:0005814)	protein kinase binding (GO:0019901)			breast(3)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(12)|liver(1)|lung(9)|prostate(3)|skin(3)	38		all_lung(116;3.24e-07)|Lung NSC(112;1.6e-06)|all_neural(266;0.0459)|Ovarian(192;0.0728)		OV - Ovarian serous cystadenocarcinoma(262;0.00153)|GBM - Glioblastoma multiforme(134;0.0145)		cctccggcttctgcttctcctccggctcctgcttctcc	0.720														620	0.123802	0.2625	0.0648	5008	,	,		15404	0.0744		0.0686	False		,,,				2504	0.0859																0			19								450,3244		108,234,1505						3.7	1.0			13	343,7469		60,223,3623	no	coding	TSKS	NM_021733.1		168,457,5128	A1A1,A1R,RR		4.3907,12.1819,6.8921				793,10713				54941762	SO:0001651	inframe_deletion	60385			BC058862	CCDS12780.1	19q13.3	2014-06-13							30719	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 161"""	608253				11444856, 18495105	Standard	NM_021733		Approved	TSSKS, PPP1R161	uc002ppm.3	Q9UJT2		ENST00000246801.3:c.769_786delGAGCCGGAGGAGAAGCAG	19.37:g.50249933_50249950delCTGCTTCTCCTCCGGCTC	ENSP00000246801:p.Glu257_Gln262del	Somatic		Capture	Illumina HiSeq	Phase_I	54941745	Q8WXJ0	In_Frame_Del	DEL	ENST00000246801.3	37	CCDS12780.1																																																																																				TSKS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465795.1	NM_021733	
KRTAP20-2	337976	hgsc.bcm.edu	37	21	32007594	32007594	+	Frame_Shift_Del	DEL	C	C	-			TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	C	C					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr21:32007594delC	ENST00000330798.2	+	1	40	c.12delC	c.(10-12)tacfs	p.Y4fs		NM_181616.1	NP_853647.1	Q3LI61	KR202_HUMAN	keratin associated protein 20-2	4						intermediate filament (GO:0005882)				central_nervous_system(1)|endometrium(3)|kidney(1)|lung(2)|ovary(1)	8						TGTGCTACTACAGCAACTACT	0.498																																																	0			21											164.0	136.0	146.0					21																	32007594		2203	4300	6503	30929465	SO:0001589	frameshift_variant	337976			AP001708	CCDS13604.1	21q22.1	2006-03-13			ENSG00000184032	ENSG00000184032		"""Keratin associated proteins"""	18944	protein-coding gene	gene with protein product						12359730	Standard	NM_181616		Approved	KAP20.2	uc011adg.2	Q3LI61	OTTHUMG00000057786	ENST00000330798.2:c.12delC	21.37:g.32007594delC	ENSP00000330746:p.Tyr4fs	Somatic		Capture	Illumina HiSeq	Phase_I	30929465		Frame_Shift_Del	DEL	ENST00000330798.2	37	CCDS13604.1																																																																																				KRTAP20-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128238.3		
BACE2	25825	hgsc.bcm.edu	37	21	42551432	42551432	+	Intron	DEL	T	T	-	rs5019194		TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	T	T					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr21:42551432delT	ENST00000330333.6	+	1	775				PLAC4_ENST00000536486.1_RNA|BACE2_ENST00000328735.6_Intron|BACE2_ENST00000347667.5_Intron|PLAC4_ENST00000440221.2_RNA|BACE2-IT1_ENST00000433378.1_RNA|PLAC4_ENST00000414699.1_RNA|PLAC4_ENST00000430327.2_RNA	NM_012105.3	NP_036237.2	Q9Y5Z0	BACE2_HUMAN	beta-site APP-cleaving enzyme 2						membrane protein ectodomain proteolysis (GO:0006509)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|peptide hormone processing (GO:0016486)|proteolysis (GO:0006508)	endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)	aspartic-type endopeptidase activity (GO:0004190)			endometrium(2)|large_intestine(3)|lung(4)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	14		Prostate(19;1.57e-07)|all_epithelial(19;0.0251)				TGACGGTGTCTGGGGTGAGTG	0.612																																																	0			21											123.0	106.0	112.0					21																	42551432		2195	4272	6467	41473302	SO:0001627	intron_variant	191585			AF117892	CCDS13668.1, CCDS13669.1, CCDS13670.1	21q22.3	2011-08-11			ENSG00000182240	ENSG00000182240			934	protein-coding gene	gene with protein product		605668		AEPLC		10965118, 10830953	Standard	NM_138991		Approved	CEAP1, DRAP, ALP56	uc002yyw.3	Q9Y5Z0	OTTHUMG00000086742	ENST00000330333.6:c.312+10930T>-	21.37:g.42551432delT		Somatic		Capture	Illumina HiSeq	Phase_I	41473302	A8K7P1|Q5DIH8|Q8N2D4|Q9H2V8|Q9NZL1|Q9NZL2|Q9UJT6	Frame_Shift_Del	DEL	ENST00000330333.6	37	CCDS13668.1																																																																																				BACE2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195056.1		
KRTAP10-6	386674	hgsc.bcm.edu	37	21	46012219	46012220	+	In_Frame_Ins	INS	-	-	GGGGCGCAGCAGCTG	rs374776064|rs587611810|rs71199613	byFrequency	TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	-	-					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr21:46012219_46012220insGGGGCGCAGCAGCTG	ENST00000400368.1	-	1	166_167	c.146_147insCAGCTGCTGCGCCCC	c.(145-147)ccg>ccCAGCTGCTGCGCCCCg	p.49_49P>PSCCAP	TSPEAR_ENST00000323084.4_Intron	NM_198688.2	NP_941961.2	P60371	KR106_HUMAN	keratin associated protein 10-6	49	29 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(6)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	23						GGCAGGGGGCCGGGGCGCAGCA	0.688														1042	0.208067	0.1188	0.2522	5008	,	,		15055	0.1379		0.3231	False		,,,				2504	0.2515																0			21																																								44836648	SO:0001652	inframe_insertion	386674			AB076353	CCDS42959.1	21q22.3	2006-03-13	2004-07-12	2004-07-14	ENSG00000188155	ENSG00000188155		"""Keratin associated proteins"""	20523	protein-coding gene	gene with protein product			"""keratin associated protein 18-6"""	KRTAP18-6			Standard	NM_198688		Approved	KRTAP18.6, KAP18.6, KAP10.6	uc002zfm.3	P60371	OTTHUMG00000057634	ENST00000400368.1:c.146_147insCAGCTGCTGCGCCCC	21.37:g.46012219_46012220insGGGGCGCAGCAGCTG	Exception_encountered	Somatic		Capture	Illumina HiSeq	Phase_I	44836647		In_Frame_Ins	INS	ENST00000400368.1	37	CCDS42959.1																																																																																				KRTAP10-6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128037.1	NM_198688	
ADM2	79924	hgsc.bcm.edu	37	22	50921149	50921166	+	In_Frame_Del	DEL	ACACTCGGGCCCCCGAAG	ACACTCGGGCCCCCGAAG	-	rs559809485|rs72438078|rs3840963|rs199649182	byFrequency	TCGA-AF-6136-01A-11D-1826-10	TCGA-AF-6136-10A-01D-1826-10	ACACTCGGGCCCCCGAAG	ACACTCGGGCCCCCGAAG					Unknown	Unknown	Somatic	Phase_I	WXS	none			Illumina GAIIx	dfc264b8-37fd-4244-aaeb-96a36bb6550e	f1d11847-2db2-429b-aee2-3b6edf9cbd31	g.chr22:50921149_50921166delACACTCGGGCCCCCGAAG	ENST00000395738.2	+	2	556_573	c.264_281delACACTCGGGCCCCCGAAG	c.(262-282)caacactcgggcccccgaaga>caa	p.HSGPRR95del	ADM2_ENST00000395737.1_In_Frame_Del_p.HSGPRR95del|ADM2_ENST00000362068.2_In_Frame_Del_p.TRAPED6del	NM_001253845.1|NM_024866.5	NP_001240774.1|NP_079142.2	Q7Z4H4	ADM2_HUMAN	adrenomedullin 2	95					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|angiogenesis (GO:0001525)|digestion (GO:0007586)|feeding behavior (GO:0007631)|negative regulation of blood pressure (GO:0045776)|positive regulation of angiogenesis (GO:0045766)|positive regulation of gene expression (GO:0010628)|protein phosphorylation (GO:0006468)	extracellular region (GO:0005576)	protein complex binding (GO:0032403)	p.H95_R100delHSGPRR(1)		breast(1)|kidney(1)	2		all_cancers(38;4.58e-14)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.205)|LUAD - Lung adenocarcinoma(64;0.247)		GTGGCCGCCAACACTCGGGCCCCCGAAGACACTCGGGC	0.693														589	0.117612	0.0968	0.1686	5008	,	,		17047	0.1915		0.1213	False		,,,				2504	0.0297																1	Deletion - In frame(1)	breast(1)	22								288,3296		54,180,1558						2.4	0.0		dbSNP_130	10	572,6758		74,424,3167	no	coding	ADM2	NM_024866.4		128,604,4725	A1A1,A1R,RR		7.8035,8.0357,7.8798				860,10054				49268032	SO:0001651	inframe_deletion	79924			AF529213	CCDS33682.1	22q13.33	2013-02-25			ENSG00000128165	ENSG00000128165		"""Endogenous ligands"""	28898	protein-coding gene	gene with protein product		608682				14706825	Standard	NM_024866		Approved	AM2, FLJ21135	uc003blj.3	Q7Z4H4	OTTHUMG00000150202	ENST00000395738.2:c.264_281delACACTCGGGCCCCCGAAG	22.37:g.50921149_50921166delACACTCGGGCCCCCGAAG	ENSP00000379087:p.His95_Arg100del	Somatic		Capture	Illumina HiSeq	Phase_I	49268015	Q3LFQ0	In_Frame_Del	DEL	ENST00000395738.2	37	CCDS33682.1																																																																																				ADM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316816.1	NM_024866	
