#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Tissue Type	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_primary_sites	i_Chromosome_hg18	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_End_position_hg18	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_Mutation_Status	i_ORegAnno_bin	i_Sequence_Source	i_Sequencer	i_Sequencing_Phase	i_Start_position_hg18	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_ccds_id	i_classification	i_context	i_dataset	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_type
CFAP74	85452	broad.mit.edu	37	1	1897862	1897862	+	IGR	SNP	A	A	G			TCGA-61-2094-01	TCGA-61-2094-11							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-61-2094-01	TCGA-61-2094-11	g.chr1:1897862A>G								TMEM52 (47150 upstream) : C1orf222 (21700 downstream)														p.L450S(1)									GGGCTCAGCTAACGTTTCCTC	0.607																																																1	Substitution - Missense(1)	ovary(1)	1											49.0	55.0	53.0					1																	1897862		1935	4119	6054	1887722	SO:0001628	intergenic_variant	85452																															1.37:g.1897862A>G		Unknown		x	x	x	1887722		Missense_Mutation	SNP		37		SNP	13	Broad	.	.	.	.	.	.	.	.	.	.	a	12.59	1.984250	0.35036	.	.	ENSG00000142609	ENST00000270720	.	.	.	3.87	3.87	0.44632	.	0.382639	0.20374	N	0.093592	T	0.75503	0.3858	M	0.72894	2.215	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	T	0.75465	-0.3308	9	0.45353	T	0.12	-18.343	11.2548	0.49048	1.0:0.0:0.0:0.0	.	450;450	Q9C0B2-2;Q9C0B2	.;K1751_HUMAN	S	450	.	ENSP00000270720:L450S	L	-	2	0	C1orf222	1887722	0.302000	0.24454	0.291000	0.24904	0.106000	0.19336	3.559000	0.53756	1.696000	0.51158	0.375000	0.23000	TTA	0	0.607									Missense_Mutation
PRDM16	63976	broad.mit.edu	37	1	3328970	3328970	+	Missense_Mutation	SNP	C	C	G			TCGA-61-2094-01	TCGA-61-2094-11							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-61-2094-01	TCGA-61-2094-11	g.chr1:3328970C>G	ENST00000270722.5	+	9	2258	c.2209C>G	c.(2209-2211)Ctt>Gtt	p.L737V	PRDM16_ENST00000441472.2_Missense_Mutation_p.L737V|PRDM16_ENST00000378398.3_Missense_Mutation_p.L738V|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000442529.2_Missense_Mutation_p.L737V|PRDM16_ENST00000378391.2_Missense_Mutation_p.L737V|PRDM16_ENST00000511072.1_Missense_Mutation_p.L738V|PRDM16_ENST00000514189.1_Missense_Mutation_p.L738V			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	737	Interaction with CTBP1 and CTBP2. {ECO:0000250}.				brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|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)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)	p.L737V(1)		breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		CCCCCACTCCCTTTACCCCTT	0.657			T	EVI1	"""MDS, AML"""																																		Dom	yes		1	1p36.23-p33	63976	PR domain containing 16		L	1	Substitution - Missense(1)	ovary(1)	1											76.0	88.0	84.0					1																	3328970		2052	4181	6233	3318830	SO:0001583	missense	63976			AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611		"""Zinc fingers, C2H2-type"""	14000	protein-coding gene	gene with protein product	"""MDS1/EVI1-like"", ""PR-domain zinc finger protein 16"", ""transcription factor MEL1"""	605557				11050005	Standard	NM_199454		Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581	ENST00000270722.5:c.2209C>G	1.37:g.3328970C>G	ENSP00000270722:p.Leu737Val	Unknown		x	x	x	3318830	A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Missense_Mutation	SNP	ENST00000270722.5	37	CCDS41236.2	SNP	24	Broad	.	.	.	.	.	.	.	.	.	.	C	5.534	0.283464	0.10458	.	.	ENSG00000142611	ENST00000511072;ENST00000378398;ENST00000441472;ENST00000442529;ENST00000378391;ENST00000514189;ENST00000270722;ENST00000512462;ENST00000408992;ENST00000509860	T;T;T;T;T;T;T;T;T	0.06449	3.31;3.36;3.38;3.32;3.3;3.33;3.38;3.33;3.33	4.37	4.37	0.52481	.	0.000000	0.40222	U	0.001160	T	0.17066	0.0410	L	0.49640	1.575	0.49483	D	0.999796	D;P;B;P	0.69078	0.997;0.867;0.287;0.791	D;B;B;B	0.78314	0.991;0.433;0.162;0.25	T	0.00395	-1.1766	10	0.45353	T	0.12	.	10.9088	0.47097	0.0:0.9121:0.0:0.0879	.	737;737;737;737	Q9HAZ2;Q9HAZ2-2;F8WEV3;D3YTA5	PRD16_HUMAN;.;.;.	V	738;738;737;737;737;738;737;553;553;546	ENSP00000426975:L738V;ENSP00000367651:L738V;ENSP00000407968:L737V;ENSP00000405253:L737V;ENSP00000367643:L737V;ENSP00000421400:L738V;ENSP00000270722:L737V;ENSP00000422504:L553V;ENSP00000425796:L546V	ENSP00000270722:L737V	L	+	1	0	PRDM16	3318830	0.971000	0.33674	1.000000	0.80357	0.958000	0.62258	1.773000	0.38563	2.151000	0.67156	0.523000	0.50628	CTT		0.657	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000001382.3	NM_022114		Missense_Mutation
GRIK3	2899	broad.mit.edu	37	1	37356623	37356624	+	Missense_Mutation	DNP	CA	CA	AG			TCGA-61-2094-01	TCGA-61-2094-11							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-61-2094-01	TCGA-61-2094-11	g.chr1:37356623_37356624CA>AG	ENST00000373091.3	-	2	205_206	c.189_190TG>CT	c.(187-192)tcTGcc>tcCTcc	p.A64S	GRIK3_ENST00000373093.4_Missense_Mutation_p.A64S	NM_000831.3	NP_000822.2	Q13003	GRIK3_HUMAN	glutamate receptor, ionotropic, kainate 3	64					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	axon (GO:0030424)|cell junction (GO:0030054)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)|terminal bouton (GO:0043195)	adenylate cyclase inhibiting G-protein coupled glutamate receptor activity (GO:0001640)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glutamate receptor activity (GO:0008066)|ionotropic glutamate receptor activity (GO:0004970)|kainate selective glutamate receptor activity (GO:0015277)	p.A64S(1)		breast(4)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(27)|lung(35)|ovary(5)|prostate(3)|skin(5)|stomach(1)|urinary_tract(1)	89		Myeloproliferative disorder(586;0.0258)|all_neural(195;0.169)				ATGATGTTGGCAGAAAATCGAA	0.49																																																1	Substitution - Missense(1)	ovary(1)	1																																								37129211	SO:0001583	missense	2899			U16127	CCDS416.1	1p34.3	2012-08-29			ENSG00000163873	ENSG00000163873		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4581	protein-coding gene	gene with protein product		138243				8128318	Standard	NM_000831		Approved	GluK3, GLUR7	uc001caz.2	Q13003	OTTHUMG00000004189	ENST00000373091.3:c.189_190delinsAG	1.37:g.37356623_37356624delinsAG	ENSP00000362183:p.Ala64Ser	Unknown		x	x	x	37129210	A9Z1Z8|B1AMS6|Q13004|Q16136	Missense_Mutation	DNP	ENST00000373091.3	37	CCDS416.1	DNP	25	Broad																																																																																				0.490	GRIK3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000012053.1	NM_000831		Missense_Mutation
MACF1	23499	broad.mit.edu	37	1	39916817	39916817	+	Silent	SNP	G	G	A			TCGA-61-2094-01	TCGA-61-2094-11							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-61-2094-01	TCGA-61-2094-11	g.chr1:39916817G>A	ENST00000372915.3	+	84	20136	c.20049G>A	c.(20047-20049)caG>caA	p.Q6683Q	MACF1_ENST00000289893.4_Silent_p.Q5227Q|MACF1_ENST00000564288.1_Silent_p.Q6784Q|MACF1_ENST00000545844.1_Silent_p.Q4725Q|MACF1_ENST00000361689.2_Silent_p.Q4725Q|MACF1_ENST00000317713.7_Silent_p.Q4725Q|MACF1_ENST00000539005.1_Silent_p.Q4595Q|MACF1_ENST00000567887.1_Silent_p.Q6821Q			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	6683					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)	p.Q4725Q(1)|p.Q5227Q(1)		breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			TGGAGCCACAGCTGGCTGAGG	0.557																																																2	Substitution - coding silent(2)	ovary(2)	1											122.0	115.0	117.0					1																	39916817		2203	4300	6503	39689404	SO:0001819	synonymous_variant	23499			AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.20049G>A	1.37:g.39916817G>A		Unknown		x	x	x	39689404	B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Silent	SNP	ENST00000372915.3	37		SNP	34	Broad	.	.	.	.	.	.	.	.	.	.	G	9.781	1.175402	0.21704	.	.	ENSG00000127603	ENST00000372925	.	.	.	6.16	6.16	0.99307	.	.	.	.	.	T	0.77418	0.4127	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.73503	-0.3962	4	.	.	.	.	20.8598	0.99761	0.0:0.0:1.0:0.0	.	.	.	.	T	3729	.	.	A	+	1	0	MACF1	39689404	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.763000	0.62257	2.937000	0.99478	0.650000	0.86243	GCT		0.557	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		Silent
CCDC17	149483	broad.mit.edu	37	1	46088468	46088468	+	Missense_Mutation	SNP	G	G	T			TCGA-61-2094-01	TCGA-61-2094-11							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-61-2094-01	TCGA-61-2094-11	g.chr1:46088468G>T	ENST00000528266.1	-	5	842	c.695C>A	c.(694-696)tCt>tAt	p.S232Y	CCDC17_ENST00000445048.2_Intron|CCDC17_ENST00000421127.2_Missense_Mutation_p.S223Y|CCDC17_ENST00000343901.2_Missense_Mutation_p.S200Y|CCDC17_ENST00000464739.1_5'Flank			Q96LX7	CCD17_HUMAN	coiled-coil domain containing 17	232								p.S200Y(1)		kidney(1)|large_intestine(1)|lung(1)|ovary(2)	5	Acute lymphoblastic leukemia(166;0.155)					TTGCACTGGAGAATAAAGTTC	0.647																																																1	Substitution - Missense(1)	ovary(1)	1											19.0	19.0	19.0					1																	46088468		2202	4297	6499	45861055	SO:0001583	missense	149483				CCDS44131.1, CCDS44131.2, CCDS53314.1	1p34.1	2014-02-12			ENSG00000159588	ENSG00000159588			26574	protein-coding gene	gene with protein product							Standard	NM_001190182		Approved	FLJ33084	uc010olt.2	Q96LX7	OTTHUMG00000007822	ENST00000528266.1:c.695C>A	1.37:g.46088468G>T	ENSP00000432172:p.Ser232Tyr	Unknown		x	x	x	45861055	A1A4Y7|B4DNX7|B4E1Q5|C9J8L2|Q0P683|Q5T629	Missense_Mutation	SNP	ENST00000528266.1	37	CCDS44131.2	SNP	33	Broad	.	.	.	.	.	.	.	.	.	.	G	0.116	-1.131903	0.01756	.	.	ENSG00000159588	ENST00000421127;ENST00000343901;ENST00000528266	T;T;T	0.18016	2.24;2.24;2.24	5.15	-10.3	0.00346	.	1.949840	0.01732	N	0.028884	T	0.04543	0.0124	N	0.03608	-0.345	0.09310	N	1	B;B;B	0.10296	0.003;0.0;0.001	B;B;B	0.08055	0.003;0.001;0.001	T	0.25537	-1.0129	10	0.02654	T	1	8.7574	4.4434	0.11586	0.5422:0.1795:0.157:0.1213	.	232;223;200	Q96LX7;Q96LX7-5;F2Z395	CCD17_HUMAN;.;.	Y	223;200;232	ENSP00000389415:S223Y;ENSP00000341451:S200Y;ENSP00000432172:S232Y	ENSP00000341451:S200Y	S	-	2	0	CCDC17	45861055	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-1.449000	0.02392	-2.173000	0.00773	-1.615000	0.00797	TCT		0.647	CCDC17-008	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386833.1	NM_152500		Missense_Mutation
BSND	7809	broad.mit.edu	37	1	55473915	55473915	+	Missense_Mutation	SNP	C	C	T			TCGA-61-2094-01	TCGA-61-2094-11							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-61-2094-01	TCGA-61-2094-11	g.chr1:55473915C>T	ENST00000371265.4	+	4	831	c.577C>T	c.(577-579)Ccc>Tcc	p.P193S		NM_057176.2	NP_476517.1	Q8WZ55	BSND_HUMAN	barttin CLCNK-type chloride channel accessory beta subunit	193					ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	chloride channel activity (GO:0005254)|chloride channel regulator activity (GO:0017081)	p.P193S(1)		cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(9)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	17						GGGCCCTGCCCCCTTGGCTTC	0.592																																					Ovarian(191;1657 2078 22894 42033 48899)											1	Substitution - Missense(1)	ovary(1)	1											30.0	30.0	30.0					1																	55473915		2202	4300	6502	55246503	SO:0001583	missense	7809			AY034632	CCDS602.1	1p32.3	2014-06-17	2014-06-17		ENSG00000162399	ENSG00000162399			16512	protein-coding gene	gene with protein product		606412	"""deafness, autosomal recessive 73"", ""Bartter syndrome, infantile, with sensorineural deafness (Barttin)"""	DFNB73		11687798, 11734858, 19646679	Standard	NM_057176		Approved	BART	uc001cye.3	Q8WZ55	OTTHUMG00000008112	ENST00000371265.4:c.577C>T	1.37:g.55473915C>T	ENSP00000360312:p.Pro193Ser	Unknown		x	x	x	55246503	Q6NT28	Missense_Mutation	SNP	ENST00000371265.4	37	CCDS602.1	SNP	22	Broad	.	.	.	.	.	.	.	.	.	.	C	22.7	4.328706	0.81690	.	.	ENSG00000162399	ENST00000371265	T	0.79554	-1.28	4.83	4.83	0.62350	.	0.000000	0.64402	D	0.000013	D	0.88463	0.6443	M	0.68317	2.08	0.41253	D	0.986725	D	0.89917	1.0	D	0.91635	0.999	D	0.89606	0.3838	10	0.87932	D	0	-17.3281	16.2302	0.82332	0.0:1.0:0.0:0.0	.	193	Q8WZ55	BSND_HUMAN	S	193	ENSP00000360312:P193S	ENSP00000360312:P193S	P	+	1	0	BSND	55246503	0.952000	0.32445	1.000000	0.80357	0.961000	0.63080	4.333000	0.59285	2.668000	0.90789	0.549000	0.68633	CCC		0.592	BSND-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022213.4	NM_057176		Missense_Mutation
CLCA1	1179	broad.mit.edu	37	1	86959205	86959205	+	Missense_Mutation	SNP	A	A	T			TCGA-61-2094-01	TCGA-61-2094-11							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-61-2094-01	TCGA-61-2094-11	g.chr1:86959205A>T	ENST00000234701.3	+	11	1954	c.1603A>T	c.(1603-1605)Agt>Tgt	p.S535C	CLCA1_ENST00000394711.1_Missense_Mutation_p.S535C			A8K7I4	CLCA1_HUMAN	chloride channel accessory 1	535					calcium ion transport (GO:0006816)|cellular response to hypoxia (GO:0071456)|chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|transport (GO:0006810)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)|microvillus (GO:0005902)|zymogen granule membrane (GO:0042589)	chloride channel activity (GO:0005254)	p.S535C(1)		NS(1)|breast(3)|endometrium(1)|kidney(3)|large_intestine(9)|lung(14)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	38		Lung NSC(277;0.239)		all cancers(265;0.0249)|Epithelial(280;0.0476)		CTGGGATCCCAGTGGACAGAA	0.483																																																1	Substitution - Missense(1)	ovary(1)	1											125.0	107.0	113.0					1																	86959205		2203	4300	6503	86731793	SO:0001583	missense	1179				CCDS709.1	1p22.3	2012-02-26	2009-01-29		ENSG00000016490	ENSG00000016490			2015	protein-coding gene	gene with protein product		603906	"""chloride channel, calcium activated, family member 1"", ""chloride channel regulator 1"""			9828122	Standard	NM_001285		Approved	CaCC, CLCRG1	uc001dlt.3	A8K7I4	OTTHUMG00000010254	ENST00000234701.3:c.1603A>T	1.37:g.86959205A>T	ENSP00000234701:p.Ser535Cys	Unknown		x	x	x	86731793	B2RAV5|O95151|Q5TDF4|Q9UNF6|Q9UPC6	Missense_Mutation	SNP	ENST00000234701.3	37	CCDS709.1	SNP	7	Broad	.	.	.	.	.	.	.	.	.	.	A	19.18	3.777095	0.70107	.	.	ENSG00000016490	ENST00000234701;ENST00000394711;ENST00000539889	T;T	0.34472	1.36;1.36	5.7	5.7	0.88788	Domain of unknown function DUF1973 (1);	0.231113	0.44097	D	0.000492	T	0.50377	0.1612	M	0.80746	2.51	0.33628	D	0.60561	D;D	0.76494	0.999;0.999	D;D	0.73708	0.981;0.981	T	0.62704	-0.6798	10	0.72032	D	0.01	-15.9056	11.0192	0.47707	0.8442:0.1558:0.0:0.0	.	535;298	A8K7I4;B4DUZ6	CLCA1_HUMAN;.	C	535;535;248	ENSP00000234701:S535C;ENSP00000378200:S535C	ENSP00000234701:S535C	S	+	1	0	CLCA1	86731793	1.000000	0.71417	0.997000	0.53966	0.873000	0.50193	4.415000	0.59809	2.173000	0.68751	0.455000	0.32223	AGT		0.483	CLCA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028277.1	NM_001285		Missense_Mutation
CSDE1	7812	broad.mit.edu	37	1	115263244	115263244	+	Missense_Mutation	SNP	C	C	A			TCGA-61-2094-01	TCGA-61-2094-11							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-61-2094-01	TCGA-61-2094-11	g.chr1:115263244C>A	ENST00000358528.4	-	17	2394	c.1968G>T	c.(1966-1968)ttG>ttT	p.L656F	CSDE1_ENST00000534699.1_Missense_Mutation_p.L656F|CSDE1_ENST00000438362.2_Missense_Mutation_p.L702F|CSDE1_ENST00000339438.6_Missense_Mutation_p.L625F|CSDE1_ENST00000530886.1_Missense_Mutation_p.L526F|CSDE1_ENST00000369530.1_Missense_Mutation_p.L671F|CSDE1_ENST00000261443.5_Missense_Mutation_p.L625F|CSDE1_ENST00000483407.1_5'Flank	NM_001007553.2	NP_001007554.1	O75534	CSDE1_HUMAN	cold shock domain containing E1, RNA-binding	656	CSD 8.				male gonad development (GO:0008584)|nuclear-transcribed mRNA catabolic process, no-go decay (GO:0070966)|regulation of transcription, DNA-templated (GO:0006355)	CRD-mediated mRNA stability complex (GO:0070937)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	DNA binding (GO:0003677)|poly(A) RNA binding (GO:0044822)	p.L656F(1)		NS(1)|breast(4)|endometrium(11)|kidney(2)|large_intestine(12)|lung(17)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	51	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;2.21e-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)		CCAGGACACACAATTGGAACT	0.502																																																1	Substitution - Missense(1)	ovary(1)	1											227.0	185.0	199.0					1																	115263244		2203	4300	6503	115064767	SO:0001583	missense	7812				CCDS30811.1, CCDS30812.1, CCDS44197.1, CCDS55626.1	1p13.2	2011-11-02			ENSG00000009307	ENSG00000009307			29905	protein-coding gene	gene with protein product	"""upstream of NRAS"""	191510				2204029, 10048485	Standard	NM_007158		Approved	D1S155E, UNR	uc001efi.3	O75534	OTTHUMG00000012060	ENST00000358528.4:c.1968G>T	1.37:g.115263244C>A	ENSP00000351329:p.Leu656Phe	Unknown		x	x	x	115064767	A8K281|E9PGZ0|G5E9Q2|O94961|Q5TF04|Q5TF05|Q68DF1|Q68DI9|Q9Y2S4	Missense_Mutation	SNP	ENST00000358528.4	37	CCDS30812.1	SNP	17	Broad	.	.	.	.	.	.	.	.	.	.	C	19.35	3.811117	0.70797	.	.	ENSG00000009307	ENST00000339438;ENST00000438362;ENST00000358528;ENST00000261443;ENST00000530886;ENST00000369530;ENST00000534699	.	.	.	6.07	4.22	0.49857	Nucleic acid-binding, OB-fold-like (1);	0.132317	0.50627	D	0.000114	T	0.47266	0.1436	L	0.44542	1.39	0.58432	D	0.999991	D;P;D	0.69078	0.981;0.845;0.997	P;B;D	0.78314	0.708;0.326;0.991	T	0.55579	-0.8119	9	0.72032	D	0.01	-8.0255	4.2933	0.10888	0.1293:0.6113:0.125:0.1344	.	671;656;702	E9PGZ0;O75534;G5E9Q2	.;CSDE1_HUMAN;.	F	625;702;656;625;526;671;656	.	ENSP00000261443:L625F	L	-	3	2	CSDE1	115064767	0.992000	0.36948	1.000000	0.80357	0.995000	0.86356	0.348000	0.20031	0.901000	0.36495	0.655000	0.94253	TTG		0.502	CSDE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033397.1	NM_007158		Missense_Mutation
CD48	962	broad.mit.edu	37	1	160681482	160681482	+	Silent	SNP	G	G	A			TCGA-61-2094-01	TCGA-61-2094-11							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-61-2094-01	TCGA-61-2094-11	g.chr1:160681482G>A	ENST00000368046.3	-	1	159	c.72C>T	c.(70-72)acC>acT	p.T24T	CD48_ENST00000368045.3_Silent_p.T24T	NM_001778.3	NP_001769.2	P09326	CD48_HUMAN	CD48 molecule	24					blood coagulation (GO:0007596)|defense response (GO:0006952)|leukocyte migration (GO:0050900)|mast cell activation (GO:0045576)|signal transduction (GO:0007165)|T cell activation (GO:0042110)	anchored component of plasma membrane (GO:0046658)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	antigen binding (GO:0003823)|receptor activity (GO:0004872)	p.T24T(1)		breast(2)|endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|stomach(1)	10	all_cancers(52;2.18e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.0175)			CTTGAATGCTGGTCACCAGGA	0.517																																																1	Substitution - coding silent(1)	ovary(1)	1											107.0	86.0	93.0					1																	160681482		2203	4300	6503	158948106	SO:0001819	synonymous_variant	962			BC016182	CCDS1208.1, CCDS72955.1	1q21.3-q22	2013-01-29	2006-03-31		ENSG00000117091	ENSG00000117091		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1683	protein-coding gene	gene with protein product		109530	"""CD48 antigen (B-cell membrane protein)"", ""CD48 molecule """	BCM1		2828034	Standard	NM_001256030		Approved	BLAST, mCD48, hCD48, SLAMF2	uc001fwo.2	P09326	OTTHUMG00000024009	ENST00000368046.3:c.72C>T	1.37:g.160681482G>A		Unknown		x	x	x	158948106	Q5U055|Q8MGR0	Silent	SNP	ENST00000368046.3	37	CCDS1208.1	SNP	47	Broad																																																																																				0.517	CD48-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060471.1	NM_001778		Silent
SH3BP5L	80851	broad.mit.edu	37	1	249106291	249106291	+	Silent	SNP	G	G	A			TCGA-61-2094-01	TCGA-61-2094-11							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-61-2094-01	TCGA-61-2094-11	g.chr1:249106291G>A	ENST00000366472.5	-	7	2219	c.990C>T	c.(988-990)acC>acT	p.T330T	SH3BP5L_ENST00000475978.1_5'UTR|SH3BP5L_ENST00000411742.2_Silent_p.T298T	NM_030645.1	NP_085148.1	Q7L8J4	3BP5L_HUMAN	SH3-binding domain protein 5-like	330								p.T330T(1)		endometrium(1)|kidney(1)|large_intestine(5)|lung(13)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	23	all_cancers(71;3.33e-06)|all_epithelial(71;2.41e-06)|Breast(184;0.00909)|Ovarian(71;0.0377)|all_lung(81;0.0458)|Lung NSC(105;0.0494)|Melanoma(84;0.199)	all_cancers(173;0.19)	OV - Ovarian serous cystadenocarcinoma(106;0.00805)			TCAGGGTATCGGTGTCGGGGG	0.697																																																1	Substitution - coding silent(1)	ovary(1)	1											20.0	25.0	24.0					1																	249106291		2195	4289	6484	247072914	SO:0001819	synonymous_variant	80851			AB051507	CCDS31126.1	1q44	2008-02-05			ENSG00000175137	ENSG00000175137			29360	protein-coding gene	gene with protein product							Standard	NM_030645		Approved	KIAA1720	uc001iew.1	Q7L8J4	OTTHUMG00000040389	ENST00000366472.5:c.990C>T	1.37:g.249106291G>A		Unknown		x	x	x	247072914	B4DQ94|Q96FI5|Q9BQH8|Q9C0E3	Silent	SNP	ENST00000366472.5	37	CCDS31126.1	SNP	39	Broad																																																																																				0.697	SH3BP5L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097140.1	NM_030645		Silent
WAPAL	23063	broad.mit.edu	37	10	88259482	88259482	+	Missense_Mutation	SNP	G	G	T			TCGA-61-2094-01	TCGA-61-2094-11							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-61-2094-01	TCGA-61-2094-11	g.chr10:88259482G>T	ENST00000298767.5	-	3	1990	c.1518C>A	c.(1516-1518)aaC>aaA	p.N506K		NM_015045.2	NP_055860.1	Q7Z5K2	WAPL_HUMAN	wings apart-like homolog (Drosophila)	506	Mediates interaction with the cohesin complex.				mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of chromatin binding (GO:0035562)|negative regulation of DNA replication (GO:0008156)|negative regulation of sister chromatid cohesion (GO:0045875)|positive regulation of fibroblast proliferation (GO:0048146)|protein localization to chromatin (GO:0071168)|regulation of chromosome condensation (GO:0060623)|regulation of cohesin localization to chromatin (GO:0071922)|response to toxic substance (GO:0009636)|viral process (GO:0016032)	chromatin (GO:0000785)|chromosome (GO:0005694)|chromosome, centromeric region (GO:0000775)|cohesin complex (GO:0008278)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|microtubule cytoskeleton (GO:0015630)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|synaptonemal complex (GO:0000795)		p.N506K(1)		breast(2)|endometrium(2)|kidney(5)|large_intestine(6)|lung(13)|ovary(2)|stomach(1)	31						TACCTGCATTGTTAGTACCAG	0.398																																																1	Substitution - Missense(1)	ovary(1)	10											121.0	115.0	117.0					10																	88259482		2203	4300	6503	88249462	SO:0001583	missense	23063			AB065003	CCDS7375.1	10q23.31	2006-12-08	2006-03-16	2006-03-16	ENSG00000062650	ENSG00000062650			23293	protein-coding gene	gene with protein product	"""friend of EBNA2"""	610754	"""KIAA0261"""	KIAA0261		9039502, 17112726	Standard	XM_006717726		Approved	FOE, WAPL	uc001kdo.3	Q7Z5K2	OTTHUMG00000018651	ENST00000298767.5:c.1518C>A	10.37:g.88259482G>T	ENSP00000298767:p.Asn506Lys	Unknown		x	x	x	88249462	A7E2B5|Q5VSK5|Q8IX10|Q92549	Missense_Mutation	SNP	ENST00000298767.5	37	CCDS7375.1	SNP	48	Broad	.	.	.	.	.	.	.	.	.	.	G	4.624	0.115985	0.08831	.	.	ENSG00000062650	ENST00000342368;ENST00000298767;ENST00000372076	T	0.41758	0.99	4.16	0.234	0.15390	.	0.352028	0.30011	N	0.010627	T	0.18215	0.0437	N	0.08118	0	0.80722	D	1	B;B;B	0.25904	0.084;0.084;0.137	B;B;B	0.29942	0.034;0.034;0.109	T	0.06991	-1.0796	10	0.11485	T	0.65	.	7.1853	0.25797	0.6728:0.0:0.3272:0.0	.	506;506;549	B2RTX8;Q7Z5K2;Q7Z5K2-2	.;WAPL_HUMAN;.	K	591;506;591	ENSP00000298767:N506K	ENSP00000298767:N506K	N	-	3	2	WAPAL	88249462	1.000000	0.71417	0.996000	0.52242	0.924000	0.55760	1.134000	0.31442	0.068000	0.16574	-0.290000	0.09829	AAC		0.398	WAPAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049151.2	NM_015045		Missense_Mutation
CCDC73	493860	broad.mit.edu	37	11	32635947	32635947	+	Silent	SNP	A	A	C			TCGA-61-2094-01	TCGA-61-2094-11							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-61-2094-01	TCGA-61-2094-11	g.chr11:32635947A>C	ENST00000335185.5	-	16	1960	c.1917T>G	c.(1915-1917)ccT>ccG	p.P639P	CCDC73_ENST00000534415.1_5'Flank	NM_001008391.2	NP_001008392.2	Q6ZRK6	CCD73_HUMAN	coiled-coil domain containing 73	639								p.P639P(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(9)|lung(20)|ovary(2)|prostate(2)|skin(2)|stomach(1)|urinary_tract(2)	51	Breast(20;0.112)					GACATGGAACAGGATTTTTTT	0.318																																																1	Substitution - coding silent(1)	ovary(1)	11											63.0	56.0	58.0					11																	32635947		1803	4077	5880	32592523	SO:0001819	synonymous_variant	493860			AK128159	CCDS41630.1	11p13	2006-02-11			ENSG00000186714	ENSG00000186714			23261	protein-coding gene	gene with protein product		612328					Standard	NM_001008391		Approved	NY-SAR-79	uc001mtv.4	Q6ZRK6	OTTHUMG00000166279	ENST00000335185.5:c.1917T>G	11.37:g.32635947A>C		Unknown		x	x	x	32592523	Q6P5Q7|Q6ZMW0|Q86WE7	Silent	SNP	ENST00000335185.5	37	CCDS41630.1	SNP	7	Broad																																																																																				0.318	CCDC73-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388874.2	NM_001008391		Silent
SLCO2B1	11309	broad.mit.edu	37	11	74915485	74915485	+	Missense_Mutation	SNP	A	A	T			TCGA-61-2094-01	TCGA-61-2094-11							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-61-2094-01	TCGA-61-2094-11	g.chr11:74915485A>T	ENST00000289575.5	+	14	2385	c.1990A>T	c.(1990-1992)Atc>Ttc	p.I664F	SLCO2B1_ENST00000428359.2_Missense_Mutation_p.I642F|SLCO2B1_ENST00000341411.4_Missense_Mutation_p.I437F|SLCO2B1_ENST00000532236.1_Missense_Mutation_p.I548F|SLCO2B1_ENST00000525650.1_Missense_Mutation_p.I520F|SLCO2B1_ENST00000454962.2_Missense_Mutation_p.I437F	NM_007256.4	NP_009187	O94956	SO2B1_HUMAN	solute carrier organic anion transporter family, member 2B1	664					liver development (GO:0001889)|sodium-independent icosanoid transport (GO:0071718)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	bile acid transmembrane transporter activity (GO:0015125)|organic anion transmembrane transporter activity (GO:0008514)|sodium-independent organic anion transmembrane transporter activity (GO:0015347)	p.I664F(1)		breast(2)|endometrium(1)|large_intestine(7)|lung(20)|ovary(3)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	39					Acetic acid(DB03166)|Alprostadil(DB00770)|Atorvastatin(DB01076)|Benzylpenicillin(DB01053)|Conjugated Estrogens(DB00286)|Digoxin(DB00390)|Dinoprostone(DB00917)|Ergoloid mesylate(DB01049)|Estradiol(DB00783)|Estrone(DB00655)|Fexofenadine(DB00950)|Fluvastatin(DB01095)|Glyburide(DB01016)|Ibuprofen(DB01050)|Iloprost(DB01088)|Latanoprost(DB00654)|Montelukast(DB00471)|Niacin(DB00627)|Pitavastatin(DB08860)|Pravastatin(DB00175)|Rifampicin(DB01045)|Rosuvastatin(DB01098)|Salicylic acid(DB00936)|Tolbutamide(DB01124)	AGGTTCTGTGATCTGCTTCGC	0.542																																																1	Substitution - Missense(1)	ovary(1)	11											143.0	122.0	129.0					11																	74915485		2200	4293	6493	74593133	SO:0001583	missense	11309			AB026256	CCDS8235.1, CCDS44683.1, CCDS53679.1	11q13	2013-05-22	2003-11-25	2003-11-26				"""Solute carriers"""	10962	protein-coding gene	gene with protein product		604988	"""solute carrier family 21 (organic anion transporter), member 9"""	SLC21A9			Standard	NM_007256		Approved	OATP-B, OATP2B1	uc001owb.3	O94956		ENST00000289575.5:c.1990A>T	11.37:g.74915485A>T	ENSP00000289575:p.Ile664Phe	Unknown		x	x	x	74593133	A8K2G9|B4DGA9|B4DTB0|E7ERN5|E9PPU8|Q9H2Z0|Q9UFU1	Missense_Mutation	SNP	ENST00000289575.5	37	CCDS8235.1	SNP	12	Broad	.	.	.	.	.	.	.	.	.	.	A	8.272	0.813501	0.16537	.	.	ENSG00000137491	ENST00000289575;ENST00000341411;ENST00000532236;ENST00000525650;ENST00000454962;ENST00000428359	T;T;T;T;T;T	0.81247	0.29;-1.47;-1.47;-1.47;-1.47;0.29	5.6	-0.762	0.11034	Major facilitator superfamily domain, general substrate transporter (1);	0.727241	0.13320	N	0.396762	T	0.54095	0.1837	N	0.08118	0	0.09310	N	1	B;B;B	0.13145	0.004;0.007;0.002	B;B;B	0.10450	0.002;0.005;0.002	T	0.37865	-0.9687	10	0.33141	T	0.24	.	0.96	0.01393	0.3292:0.1513:0.3652:0.1543	.	520;437;664	E9PPU8;O94956-2;O94956	.;.;SO2B1_HUMAN	F	664;437;548;520;437;642	ENSP00000289575:I664F;ENSP00000341286:I437F;ENSP00000434112:I548F;ENSP00000436324:I520F;ENSP00000389653:I437F;ENSP00000388912:I642F	ENSP00000289575:I664F	I	+	1	0	SLCO2B1	74593133	0.306000	0.24490	0.310000	0.25168	0.139000	0.21198	-0.028000	0.12350	0.183000	0.20059	-0.468000	0.05107	ATC		0.542	SLCO2B1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000383933.1	NM_007256		Missense_Mutation
NCAM1	4684	broad.mit.edu	37	11	113104016	113104016	+	Missense_Mutation	SNP	C	C	T			TCGA-61-2094-01	TCGA-61-2094-11							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-61-2094-01	TCGA-61-2094-11	g.chr11:113104016C>T	ENST00000533760.1	+	12	1885	c.1286C>T	c.(1285-1287)tCc>tTc	p.S429F	NCAM1_ENST00000401611.2_Missense_Mutation_p.S556F|NCAM1_ENST00000397957.4_3'UTR|NCAM1_ENST00000316851.7_Missense_Mutation_p.S547F	NM_001242608.1	NP_001229537.1	P13591	NCAM1_HUMAN	neural cell adhesion molecule 1	557	Ig-like C2-type 5.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytokine-mediated signaling pathway (GO:0019221)|extracellular matrix organization (GO:0030198)|interferon-gamma-mediated signaling pathway (GO:0060333)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	identical protein binding (GO:0042802)	p.S556F(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(27)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)	49		all_cancers(61;5.82e-19)|all_epithelial(67;6.87e-12)|Melanoma(852;1.99e-05)|all_hematologic(158;3.66e-05)|Acute lymphoblastic leukemia(157;0.00119)|Breast(348;0.0109)|all_neural(223;0.0299)|Medulloblastoma(222;0.0458)|Renal(330;0.198)|Prostate(24;0.207)		BRCA - Breast invasive adenocarcinoma(274;1.78e-05)|Epithelial(105;0.000114)|all cancers(92;0.000467)|OV - Ovarian serous cystadenocarcinoma(223;0.212)		GTATGGCATTCCAAGTGGTAT	0.532																																																1	Substitution - Missense(1)	ovary(1)	11											78.0	82.0	80.0					11																	113104016		2103	4223	6326	112609226	SO:0001583	missense	4684				CCDS73384.1, CCDS73385.1, CCDS73386.1, CCDS73387.1, CCDS73388.1	11q23.2	2013-02-11			ENSG00000149294	ENSG00000149294		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7656	protein-coding gene	gene with protein product		116930					Standard	NM_000615		Approved	NCAM, CD56	uc021qqp.1	P13591	OTTHUMG00000167196	ENST00000533760.1:c.1286C>T	11.37:g.113104016C>T	ENSP00000473281:p.Ser429Phe	Unknown		x	x	x	112609226	A8K8T8|P13592|P13593|Q05C58|Q15829|Q16180|Q16209|Q59FL7|Q86X47|Q96CJ3	Missense_Mutation	SNP	ENST00000533760.1	37		SNP	30	Broad	.	.	.	.	.	.	.	.	.	.	C	10.64	1.408395	0.25378	.	.	ENSG00000149294	ENST00000531044;ENST00000401611;ENST00000316851	T;T	0.58358	0.34;0.34	6.06	-4.85	0.03142	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.937769	0.09020	N	0.860373	T	0.44393	0.1291	.	.	.	0.58432	D	0.999997	B;B;B;B	0.16802	0.019;0.014;0.003;0.004	B;B;B;B	0.15484	0.013;0.008;0.008;0.01	T	0.25950	-1.0117	9	0.32370	T	0.25	-17.2056	20.8579	0.99727	0.0:0.8325:0.0:0.1675	.	557;547;557;547	P13591-5;P13591-1;P13591;P13591-3	.;.;NCAM1_HUMAN;.	F	429;556;547	ENSP00000384055:S556F;ENSP00000318472:S547F	ENSP00000318472:S547F	S	+	2	0	NCAM1	112609226	0.000000	0.05858	0.816000	0.32577	0.978000	0.69477	-0.293000	0.08320	-0.944000	0.03686	0.655000	0.94253	TCC		0.532	NCAM1-003	NOVEL	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000394068.2	NM_000615		Missense_Mutation
ZBTB16	7704	broad.mit.edu	37	11	113934883	113934883	+	Missense_Mutation	SNP	C	C	G	rs373185527		TCGA-61-2094-01	TCGA-61-2094-11							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-61-2094-01	TCGA-61-2094-11	g.chr11:113934883C>G	ENST00000335953.4	+	2	1241	c.861C>G	c.(859-861)agC>agG	p.S287R	ZBTB16_ENST00000392996.2_Missense_Mutation_p.S287R	NM_006006.4	NP_005997.2	Q05516	ZBT16_HUMAN	zinc finger and BTB domain containing 16	287					anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|cartilage development (GO:0051216)|central nervous system development (GO:0007417)|embryonic digit morphogenesis (GO:0042733)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic pattern specification (GO:0009880)|forelimb morphogenesis (GO:0035136)|hemopoiesis (GO:0030097)|male germ-line stem cell asymmetric division (GO:0048133)|mesonephros development (GO:0001823)|myeloid cell differentiation (GO:0030099)|negative regulation of cell proliferation (GO:0008285)|negative regulation of myeloid cell differentiation (GO:0045638)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cartilage development (GO:0061036)|positive regulation of chondrocyte differentiation (GO:0032332)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of NK T cell differentiation (GO:0051138)|positive regulation of ossification (GO:0045778)|positive regulation of transcription, DNA-templated (GO:0045893)|protein localization to nucleus (GO:0034504)|protein ubiquitination (GO:0016567)|transcription, DNA-templated (GO:0006351)	cytosol (GO:0005829)|nuclear body (GO:0016604)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(1)|large_intestine(2)|skin(1)|upper_aerodigestive_tract(2)	6		all_cancers(61;3.79e-18)|all_epithelial(67;2.32e-10)|all_hematologic(158;2.96e-05)|Melanoma(852;0.000362)|Acute lymphoblastic leukemia(157;0.00108)|Breast(348;0.0104)|all_neural(223;0.0294)|Prostate(24;0.0318)|Medulloblastoma(222;0.0438)		BRCA - Breast invasive adenocarcinoma(274;6.75e-06)|Epithelial(105;0.000181)|all cancers(92;0.0018)		CTCGAAGCAGCGTCATCACCA	0.657																																																0			11											55.0	46.0	49.0					11																	113934883		2201	4296	6497	113440093	SO:0001583	missense	7704			Z19002	CCDS8367.1	11q23	2013-10-17	2004-07-16	2004-07-16	ENSG00000109906	ENSG00000109906		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	12930	protein-coding gene	gene with protein product	"""promyelocytic leukaemia zinc finger"""	176797	"""zinc finger protein 145 (Kruppel-like, expressed in promyelocytic leukemia)"""	ZNF145			Standard	XM_006718899		Approved	PLZF	uc001poq.3	Q05516	OTTHUMG00000168243	ENST00000335953.4:c.861C>G	11.37:g.113934883C>G	ENSP00000338157:p.Ser287Arg	Unknown		x	x	x	113440093	Q8TAL4	Missense_Mutation	SNP	ENST00000335953.4	37	CCDS8367.1	SNP	27	Broad	.	.	.	.	.	.	.	.	.	.	c	15.56	2.868356	0.51588	.	.	ENSG00000109906	ENST00000335953;ENST00000392996	T;T	0.14516	2.5;2.5	5.11	-4.22	0.03800	.	0.000000	0.85682	D	0.000000	T	0.21550	0.0519	L	0.32530	0.975	0.53688	D	0.999979	D;D	0.76494	0.999;0.999	D;D	0.81914	0.995;0.995	T	0.00265	-1.1865	10	0.87932	D	0	-9.0515	14.608	0.68495	0.0:0.322:0.0:0.678	.	287;292	Q05516;Q59H43	ZBT16_HUMAN;.	R	287	ENSP00000338157:S287R;ENSP00000376721:S287R	ENSP00000338157:S287R	S	+	3	2	ZBTB16	113440093	0.001000	0.12720	0.976000	0.42696	0.974000	0.67602	-1.513000	0.02256	-0.648000	0.05437	-0.713000	0.03633	AGC		0.657	ZBTB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398940.1	NM_006006		Missense_Mutation
LRP6	4040	broad.mit.edu	37	12	12278278	12278278	+	Silent	SNP	T	T	A			TCGA-61-2094-01	TCGA-61-2094-11							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-61-2094-01	TCGA-61-2094-11	g.chr12:12278278T>A	ENST00000261349.4	-	21	4477	c.4401A>T	c.(4399-4401)ggA>ggT	p.G1467G	BCL2L14_ENST00000396369.1_Intron|LRP6_ENST00000540415.1_5'Flank|LRP6_ENST00000543091.1_Silent_p.G1422G	NM_002336.2	NP_002327.2	O75581	LRP6_HUMAN	low density lipoprotein receptor-related protein 6	1467					anterior/posterior pattern specification (GO:0009952)|axis elongation involved in somitogenesis (GO:0090245)|bone morphogenesis (GO:0060349)|bone remodeling (GO:0046849)|branching involved in mammary gland duct morphogenesis (GO:0060444)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in cardiac neural crest cell differentiation involved in heart development (GO:0061310)|canonical Wnt signaling pathway involved in neural crest cell differentiation (GO:0044335)|canonical Wnt signaling pathway involved in positive regulation of cardiac outflow tract cell proliferation (GO:0061324)|canonical Wnt signaling pathway involved in regulation of cell proliferation (GO:0044340)|cell migration involved in gastrulation (GO:0042074)|cellular response to cholesterol (GO:0071397)|cerebellum morphogenesis (GO:0021587)|cerebral cortex cell migration (GO:0021795)|cerebral cortex development (GO:0021987)|convergent extension (GO:0060026)|dopaminergic neuron differentiation (GO:0071542)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic digit morphogenesis (GO:0042733)|embryonic forelimb morphogenesis (GO:0035115)|embryonic hindlimb morphogenesis (GO:0035116)|embryonic limb morphogenesis (GO:0030326)|embryonic pattern specification (GO:0009880)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|external genitalia morphogenesis (GO:0035261)|face morphogenesis (GO:0060325)|forebrain radial glial cell differentiation (GO:0021861)|formation of radial glial scaffolds (GO:0021943)|gastrulation with mouth forming second (GO:0001702)|heart looping (GO:0001947)|mammary placode formation (GO:0060596)|midbrain development (GO:0030901)|midbrain-hindbrain boundary development (GO:0030917)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of planar cell polarity pathway involved in cardiac muscle tissue morphogenesis (GO:2000151)|negative regulation of planar cell polarity pathway involved in cardiac right atrium morphogenesis (GO:2000162)|negative regulation of planar cell polarity pathway involved in neural tube closure (GO:2000168)|negative regulation of planar cell polarity pathway involved in outflow tract morphogenesis (GO:2000164)|negative regulation of planar cell polarity pathway involved in pericardium morphogenesis (GO:2000166)|negative regulation of planar cell polarity pathway involved in ventricular septum morphogenesis (GO:2000149)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|negative regulation of smooth muscle cell apoptotic process (GO:0034392)|neural crest cell differentiation (GO:0014033)|neural crest formation (GO:0014029)|neural tube closure (GO:0001843)|odontogenesis of dentin-containing tooth (GO:0042475)|palate development (GO:0060021)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of bone resorption (GO:0045780)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell cycle (GO:0045787)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of ossification (GO:0045778)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000055)|post-anal tail morphogenesis (GO:0036342)|primitive streak formation (GO:0090009)|receptor-mediated endocytosis of low-density lipoprotein particle involved in cholesterol transport (GO:0090118)|regulation of cell development (GO:0060284)|regulation of fat cell differentiation (GO:0045598)|regulation of ossification (GO:0030278)|response to folic acid (GO:0051593)|response to peptide hormone (GO:0043434)|single organismal cell-cell adhesion (GO:0016337)|synaptic transmission (GO:0007268)|thalamus development (GO:0021794)|toxin transport (GO:1901998)|trachea cartilage morphogenesis (GO:0060535)|Wnt signaling pathway (GO:0016055)|Wnt signaling pathway involved in dorsal/ventral axis specification (GO:0044332)|Wnt signaling pathway involved in forebrain neuroblast division (GO:0021874)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|early endosome (GO:0005769)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|synapse (GO:0045202)	apolipoprotein binding (GO:0034185)|coreceptor activity involved in Wnt signaling pathway (GO:0071936)|frizzled binding (GO:0005109)|identical protein binding (GO:0042802)|kinase inhibitor activity (GO:0019210)|low-density lipoprotein receptor activity (GO:0005041)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|toxin transporter activity (GO:0019534)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)	p.G1467G(1)		breast(4)|central_nervous_system(1)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(28)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	85		Prostate(47;0.0865)				TTGATGATGCTCCTGTAACAT	0.433																																																1	Substitution - coding silent(1)	ovary(1)	12											134.0	109.0	117.0					12																	12278278		2203	4300	6503	12169545	SO:0001819	synonymous_variant	4040			AF074264	CCDS8647.1	12p13.2	2013-05-29			ENSG00000070018	ENSG00000070018		"""Low density lipoprotein receptors"""	6698	protein-coding gene	gene with protein product		603507				9704021	Standard	NM_002336		Approved	ADCAD2	uc001rah.4	O75581	OTTHUMG00000168540	ENST00000261349.4:c.4401A>T	12.37:g.12278278T>A		Unknown		x	x	x	12169545	Q17RZ2	Silent	SNP	ENST00000261349.4	37	CCDS8647.1	SNP	54	Broad																																																																																				0.433	LRP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400137.1			Silent
ENDOU	8909	broad.mit.edu	37	12	48104664	48104664	+	Missense_Mutation	SNP	C	C	T			TCGA-61-2094-01	TCGA-61-2094-11							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-61-2094-01	TCGA-61-2094-11	g.chr12:48104664C>T	ENST00000422538.3	-	10	1276	c.1154G>A	c.(1153-1155)cGg>cAg	p.R385Q	RP1-197B17.3_ENST00000547799.1_lincRNA|ENDOU_ENST00000545824.2_Missense_Mutation_p.R322Q|ENDOU_ENST00000542202.1_Silent_p.P103P|ENDOU_ENST00000229003.3_Missense_Mutation_p.R344Q	NM_001172439.1	NP_001165910.1	P21128	ENDOU_HUMAN	endonuclease, polyU-specific	385					female pregnancy (GO:0007565)|immune response (GO:0006955)|proteolysis (GO:0006508)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|plasma membrane (GO:0005886)	endoribonuclease activity (GO:0004521)|growth factor activity (GO:0008083)|manganese ion binding (GO:0030145)|polysaccharide binding (GO:0030247)|RNA binding (GO:0003723)|scavenger receptor activity (GO:0005044)|serine-type peptidase activity (GO:0008236)	p.R344Q(1)		autonomic_ganglia(1)|endometrium(2)|large_intestine(4)|lung(2)|ovary(3)|pancreas(1)|stomach(1)	14						GGTATATGTCCGGACAGCTAA	0.537																																																1	Substitution - Missense(1)	ovary(1)	12											171.0	138.0	149.0					12																	48104664		2203	4300	6503	46390931	SO:0001583	missense	8909			M32402	CCDS8754.1, CCDS53784.1, CCDS53785.1	12q13.1	2011-08-31			ENSG00000111405	ENSG00000111405		"""Serine peptidases / Serine peptidases"""	14369	protein-coding gene	gene with protein product		606720				2350438, 1710108, 15755742, 18936097	Standard	NM_006025		Approved	PP11, P11, PRSS26	uc001rpu.2	P21128	OTTHUMG00000169670	ENST00000422538.3:c.1154G>A	12.37:g.48104664C>T	ENSP00000397679:p.Arg385Gln	Unknown		x	x	x	46390931	B2RBJ3|B3KQS7|B7Z6E1|Q2NKJ4	Missense_Mutation	SNP	ENST00000422538.3	37	CCDS53785.1	SNP	23	Broad	.	.	.	.	.	.	.	.	.	.	C	1.765	-0.485898	0.04352	.	.	ENSG00000111405	ENST00000229003;ENST00000422538;ENST00000545824	T;T	0.27557	1.66;1.66	6.06	4.93	0.64822	.	0.156254	0.64402	N	0.000016	T	0.08537	0.0212	N	0.00507	-1.42	0.80722	D	1	B;B;B	0.13145	0.001;0.003;0.007	B;B;B	0.06405	0.001;0.002;0.001	T	0.13469	-1.0508	10	0.13108	T	0.6	-21.0602	9.7632	0.40545	0.0:0.0826:0.0:0.9174	.	322;385;344	P21128-3;P21128;P21128-2	.;ENDOU_HUMAN;.	Q	344;385;322	ENSP00000229003:R344Q;ENSP00000397679:R385Q	ENSP00000229003:R344Q	R	-	2	0	ENDOU	46390931	1.000000	0.71417	1.000000	0.80357	0.074000	0.17049	4.457000	0.60088	1.125000	0.41998	-0.302000	0.09304	CGG		0.537	ENDOU-002	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000405352.1	NM_006025.2		Missense_Mutation
DPY19L2	283417	broad.mit.edu	37	12	64062050	64062050	+	Missense_Mutation	SNP	G	G	C			TCGA-61-2094-01	TCGA-61-2094-11							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-61-2094-01	TCGA-61-2094-11	g.chr12:64062050G>C	ENST00000324472.4	-	1	307	c.124C>G	c.(124-126)Cta>Gta	p.L42V	RP11-415I12.3_ENST00000509615.2_RNA	NM_173812.4	NP_776173.3	Q6NUT2	D19L2_HUMAN	dpy-19-like 2 (C. elegans)	42					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	integral component of membrane (GO:0016021)|nuclear inner membrane (GO:0005637)|nucleus (GO:0005634)	transferase activity, transferring glycosyl groups (GO:0016757)	p.L42V(1)		breast(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(8)|lung(19)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	45			GBM - Glioblastoma multiforme(1;2.77e-05)	GBM - Glioblastoma multiforme(28;0.044)		CCGCCGCCTAGGGCCGACTTT	0.652																																																1	Substitution - Missense(1)	ovary(1)	12											33.0	42.0	39.0					12																	64062050		2198	4296	6494	62348317	SO:0001583	missense	283417				CCDS31851.1	12q14.2	2012-11-14			ENSG00000177990	ENSG00000177990			19414	protein-coding gene	gene with protein product	"""spermatogenesis associated 34"""	613893				12975309	Standard	XM_006719348		Approved	FLJ32949, SPATA34	uc001srp.1	Q6NUT2	OTTHUMG00000168712	ENST00000324472.4:c.124C>G	12.37:g.64062050G>C	ENSP00000315988:p.Leu42Val	Unknown		x	x	x	62348317	A4FVC1|B4E191|Q3ZCX2|Q6UWG8|Q96LZ9	Missense_Mutation	SNP	ENST00000324472.4	37	CCDS31851.1	SNP	35	Broad	.	.	.	.	.	.	.	.	.	.	G	0.853	-0.737921	0.03111	.	.	ENSG00000177990	ENST00000324472;ENST00000542209	T;T	0.37915	1.17;1.78	1.61	-3.21	0.05140	.	1.601090	0.05520	U	0.561989	T	0.19127	0.0459	N	0.24115	0.695	0.09310	N	0.999999	B	0.02656	0.0	B	0.04013	0.001	T	0.11743	-1.0575	9	.	.	.	.	1.3557	0.02182	0.1609:0.3878:0.2552:0.196	.	42	Q6NUT2	D19L2_HUMAN	V	42	ENSP00000315988:L42V;ENSP00000444932:L42V	.	L	-	1	2	DPY19L2	62348317	0.000000	0.05858	0.000000	0.03702	0.004000	0.04260	-0.908000	0.04063	-1.612000	0.01579	0.195000	0.17529	CTA		0.652	DPY19L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400689.2	NM_173812		Missense_Mutation
MYBPC1	4604	broad.mit.edu	37	12	102074234	102074234	+	Missense_Mutation	SNP	T	T	G			TCGA-61-2094-01	TCGA-61-2094-11							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-61-2094-01	TCGA-61-2094-11	g.chr12:102074234T>G	ENST00000550270.1	+	28	3339	c.3339T>G	c.(3337-3339)gaT>gaG	p.D1113E	MYBPC1_ENST00000441232.1_Missense_Mutation_p.D1113E|MYBPC1_ENST00000360610.2_Missense_Mutation_p.D1113E|MYBPC1_ENST00000547509.1_Missense_Mutation_p.D1081E|MYBPC1_ENST00000361685.2_Missense_Mutation_p.D1120E|MYBPC1_ENST00000536007.1_Missense_Mutation_p.D1076E|MYBPC1_ENST00000547405.1_Missense_Mutation_p.D1069E|MYBPC1_ENST00000541119.1_Missense_Mutation_p.D1083E|MYBPC1_ENST00000361466.2_Missense_Mutation_p.D1120E|MYBPC1_ENST00000551300.1_Missense_Mutation_p.D996E|MYBPC1_ENST00000553190.1_Missense_Mutation_p.D1095E|MYBPC1_ENST00000392934.3_Missense_Mutation_p.D1082E|MYBPC1_ENST00000452455.2_Missense_Mutation_p.D1113E|MYBPC1_ENST00000549145.1_Missense_Mutation_p.D1126E|MYBPC1_ENST00000550501.1_Intron|MYBPC1_ENST00000545503.2_Missense_Mutation_p.D1095E			Q00872	MYPC1_HUMAN	myosin binding protein C, slow type	1113	Ig-like C2-type 7.				cell adhesion (GO:0007155)|muscle filament sliding (GO:0030049)	cytosol (GO:0005829)|myofibril (GO:0030016)|myosin filament (GO:0032982)	structural constituent of muscle (GO:0008307)|titin binding (GO:0031432)	p.D1120E(1)		breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|liver(1)|lung(22)|ovary(4)|prostate(1)|skin(4)|urinary_tract(2)	57						GCCCCTATGATGGAGGCACTT	0.463																																																1	Substitution - Missense(1)	ovary(1)	12											87.0	80.0	82.0					12																	102074234		2203	4300	6503	100598365	SO:0001583	missense	4604				CCDS9083.1, CCDS9084.1, CCDS9085.1, CCDS55877.1, CCDS58268.1, CCDS58269.1, CCDS58270.1, CCDS58271.1, CCDS58272.1, CCDS58273.1	12q23.2	2013-02-11	2001-11-28		ENSG00000196091	ENSG00000196091		"""Myosin binding proteins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	7549	protein-coding gene	gene with protein product		160794	"""myosin-binding protein C, slow-type"""			8375400, 16918501	Standard	NM_002465		Approved		uc010svs.2	Q00872	OTTHUMG00000170274	ENST00000550270.1:c.3339T>G	12.37:g.102074234T>G	ENSP00000449702:p.Asp1113Glu	Unknown		x	x	x	100598365	B4DKR5|B7Z8G8|B7ZL02|B7ZL09|B7ZL10|E7ESM5|E7EWS6|G3XAE8|Q15497|Q17RR7|Q569K7|Q86T48|Q86TC8|Q8N3L2	Missense_Mutation	SNP	ENST00000550270.1	37	CCDS9085.1	SNP	51	Broad	.	.	.	.	.	.	.	.	.	.	T	20.3	3.968015	0.74131	.	.	ENSG00000196091	ENST00000547405;ENST00000452455;ENST00000441232;ENST00000360610;ENST00000392934;ENST00000547509;ENST00000361685;ENST00000549145;ENST00000553190;ENST00000545503;ENST00000536007;ENST00000541119;ENST00000361466;ENST00000551300;ENST00000550270	T;T;T;T;T;T;T;T;T;T;T;T;T;T;T	0.81163	-1.46;-1.46;-1.46;-1.46;-1.46;-1.46;-1.46;-1.46;-1.46;-1.46;-1.46;-1.46;-1.46;-1.46;-1.46	5.27	-4.25	0.03766	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.53938	D	0.000057	D	0.88851	0.6549	M	0.90542	3.125	0.49130	D	0.999753	D;D;D;D;D;D;D;D;D;D	0.89917	0.967;0.998;1.0;1.0;0.999;0.994;0.998;0.996;1.0;1.0	D;D;D;D;D;D;D;D;D;D	0.97110	0.972;0.997;1.0;0.999;0.996;0.988;0.995;0.997;1.0;0.999	D	0.88364	0.2990	10	0.87932	D	0	.	12.7257	0.57170	0.0:0.5002:0.0:0.4998	.	1076;1083;1113;1095;1082;1069;1095;1113;1120;1120	B7ZL02;B7ZL10;E7EWS6;B7ZL09;E7ESM5;Q17RR7;Q00872-3;Q00872;G3XAE8;Q00872-2	.;.;.;.;.;.;.;MYPC1_HUMAN;.;.	E	1069;1113;1113;1113;1082;1081;1120;1126;1095;1095;1076;1083;1120;996;1113	ENSP00000448175:D1069E;ENSP00000400908:D1113E;ENSP00000388989:D1113E;ENSP00000353822:D1113E;ENSP00000376665:D1082E;ENSP00000447362:D1081E;ENSP00000354845:D1120E;ENSP00000447660:D1126E;ENSP00000447900:D1095E;ENSP00000440034:D1095E;ENSP00000446128:D1076E;ENSP00000442847:D1083E;ENSP00000354849:D1120E;ENSP00000447116:D996E;ENSP00000449702:D1113E	ENSP00000353822:D1113E	D	+	3	2	MYBPC1	100598365	0.000000	0.05858	0.924000	0.36721	0.849000	0.48306	-2.043000	0.01413	-0.732000	0.04856	-0.290000	0.09829	GAT		0.463	MYBPC1-024	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000408806.1			Missense_Mutation
AHNAK2	113146	broad.mit.edu	37	14	105409924	105409924	+	Missense_Mutation	SNP	G	G	A			TCGA-61-2094-01	TCGA-61-2094-11							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-61-2094-01	TCGA-61-2094-11	g.chr14:105409924G>A	ENST00000333244.5	-	7	11983	c.11864C>T	c.(11863-11865)tCc>tTc	p.S3955F	AHNAK2_ENST00000557457.1_Intron	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	3955						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)		p.S3955F(1)		cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			GTCGGCCAGGGACAGGTCCCC	0.622																																																1	Substitution - Missense(1)	ovary(1)	14											193.0	193.0	193.0					14																	105409924		1988	4159	6147	104480969	SO:0001583	missense	113146			AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.11864C>T	14.37:g.105409924G>A	ENSP00000353114:p.Ser3955Phe	Unknown		x	x	x	104480969	Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Missense_Mutation	SNP	ENST00000333244.5	37	CCDS45177.1	SNP	41	Broad	.	.	.	.	.	.	.	.	.	.	-	14.35	2.509359	0.44660	.	.	ENSG00000185567	ENST00000333244	T	0.00695	5.83	3.92	-1.59	0.08453	.	.	.	.	.	T	0.03305	0.0096	M	0.86028	2.79	0.09310	N	1	D	0.63880	0.993	D	0.66716	0.946	T	0.20672	-1.0268	9	0.59425	D	0.04	.	6.3772	0.21513	0.1852:0.0:0.5174:0.2974	.	3955	Q8IVF2	AHNK2_HUMAN	F	3955	ENSP00000353114:S3955F	ENSP00000353114:S3955F	S	-	2	0	AHNAK2	104480969	0.000000	0.05858	0.004000	0.12327	0.052000	0.14988	0.221000	0.17680	-0.126000	0.11682	0.306000	0.20318	TCC		0.622	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		Missense_Mutation
MAP1A	4130	broad.mit.edu	37	15	43816827	43816827	+	Silent	SNP	G	G	T			TCGA-61-2094-01	TCGA-61-2094-11							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-61-2094-01	TCGA-61-2094-11	g.chr15:43816827G>T	ENST00000300231.5	+	4	3606	c.3156G>T	c.(3154-3156)ggG>ggT	p.G1052G	MAP1A_ENST00000399453.1_Silent_p.G1052G|MAP1A_ENST00000382031.1_Silent_p.G1290G			P78559	MAP1A_HUMAN	microtubule-associated protein 1A	1052					microtubule cytoskeleton organization (GO:0000226)|sensory perception of sound (GO:0007605)	cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)	structural molecule activity (GO:0005198)	p.G1052G(1)		breast(5)|central_nervous_system(1)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(11)|liver(2)|lung(19)|ovary(5)|pancreas(3)|prostate(2)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	66		all_cancers(109;1.03e-14)|all_epithelial(112;2.23e-12)|Lung NSC(122;2.76e-08)|all_lung(180;3.1e-07)|Melanoma(134;0.0476)|Colorectal(260;0.215)		GBM - Glioblastoma multiforme(94;3.05e-06)	Estramustine(DB01196)	TCAAGCCAGGGCCTGAAGAGG	0.577																																																1	Substitution - coding silent(1)	ovary(1)	15											47.0	52.0	50.0					15																	43816827		1998	4163	6161	41604119	SO:0001819	synonymous_variant	4130			U38292	CCDS42031.1	15q15.3	2006-06-15			ENSG00000166963	ENSG00000166963			6835	protein-coding gene	gene with protein product		600178		MAP1L		7806212, 7629894	Standard	XM_005254385		Approved		uc001zrt.3	P78559	OTTHUMG00000059756	ENST00000300231.5:c.3156G>T	15.37:g.43816827G>T		Unknown		x	x	x	41604119	O95643|Q12973|Q15882|Q9UJT4	Silent	SNP	ENST00000300231.5	37	CCDS42031.1	SNP	42	Broad																																																																																				0.577	MAP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000132894.5	NM_002373		Silent
SIN3A	25942	broad.mit.edu	37	15	75693135	75693135	+	Missense_Mutation	SNP	T	T	C			TCGA-61-2094-01	TCGA-61-2094-11							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-61-2094-01	TCGA-61-2094-11	g.chr15:75693135T>C	ENST00000394947.3	-	11	1987	c.1673A>G	c.(1672-1674)tAt>tGt	p.Y558C	SIN3A_ENST00000394949.4_Missense_Mutation_p.Y558C|SIN3A_ENST00000360439.4_Missense_Mutation_p.Y558C	NM_001145358.1	NP_001138830.1			SIN3 transcription regulator family member A									p.Y558C(1)		breast(2)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(15)|ovary(3)|prostate(2)|skin(5)|upper_aerodigestive_tract(2)	63						TAAGGCTCGATAGCTGGAGCC	0.498																																																1	Substitution - Missense(1)	ovary(1)	15											112.0	96.0	101.0					15																	75693135		2197	4294	6491	73480188	SO:0001583	missense	25942			AK027559	CCDS10279.1	15q22.33	2013-08-21	2013-08-21		ENSG00000169375	ENSG00000169375			19353	protein-coding gene	gene with protein product		607776	"""SIN3 homolog A, transcription regulator (yeast)"", ""SIN3 transcription regulator homolog A (yeast)"""			10773092, 7601471	Standard	NM_001145357		Approved	KIAA0700, DKFZP434K2235	uc002bai.3	Q96ST3	OTTHUMG00000142834	ENST00000394947.3:c.1673A>G	15.37:g.75693135T>C	ENSP00000378402:p.Tyr558Cys	Unknown		x	x	x	73480188		Missense_Mutation	SNP	ENST00000394947.3	37	CCDS10279.1	SNP	49	Broad	.	.	.	.	.	.	.	.	.	.	T	25.2	4.618085	0.87359	.	.	ENSG00000169375	ENST00000394947;ENST00000394949;ENST00000360439	D;D;D	0.85339	-1.97;-1.97;-1.97	5.91	5.91	0.95273	Histone deacetylase interacting (2);	0.000000	0.85682	D	0.000000	D	0.94918	0.8357	H	0.96398	3.815	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.96334	0.9246	10	0.87932	D	0	-16.8564	15.5243	0.75890	0.0:0.0:0.0:1.0	.	558	Q96ST3	SIN3A_HUMAN	C	558	ENSP00000378402:Y558C;ENSP00000378403:Y558C;ENSP00000353622:Y558C	ENSP00000353622:Y558C	Y	-	2	0	SIN3A	73480188	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	8.039000	0.88947	2.263000	0.75096	0.377000	0.23210	TAT		0.498	SIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286469.1	NM_015477		Missense_Mutation
ZNF423	23090	broad.mit.edu	37	16	49672444	49672444	+	Missense_Mutation	SNP	C	C	A			TCGA-61-2094-01	TCGA-61-2094-11							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-61-2094-01	TCGA-61-2094-11	g.chr16:49672444C>A	ENST00000561648.1	-	4	672	c.619G>T	c.(619-621)Gac>Tac	p.D207Y	ZNF423_ENST00000562520.1_Missense_Mutation_p.D147Y|ZNF423_ENST00000262383.2_Missense_Mutation_p.D207Y|ZNF423_ENST00000535559.1_Missense_Mutation_p.D90Y|ZNF423_ENST00000563137.2_Missense_Mutation_p.D147Y|ZNF423_ENST00000567169.1_Missense_Mutation_p.D90Y|ZNF423_ENST00000562871.1_Missense_Mutation_p.D147Y	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	207					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.D207Y(1)		breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				TTGAGGTGGTCGCTGCGGGAG	0.602																																																1	Substitution - Missense(1)	ovary(1)	16											67.0	48.0	55.0					16																	49672444		2198	4300	6498	48229945	SO:0001583	missense	23090			AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"""Zinc fingers, C2H2-type"""	16762	protein-coding gene	gene with protein product	"""OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein"""	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.619G>T	16.37:g.49672444C>A	ENSP00000455426:p.Asp207Tyr	Unknown		x	x	x	48229945	O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	ENST00000561648.1	37	CCDS32445.1	SNP	31	Broad	.	.	.	.	.	.	.	.	.	.	C	17.66	3.444468	0.63178	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.07444	3.19;3.19	5.0	5.0	0.66597	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.85682	D	0.000000	T	0.21022	0.0506	L	0.38838	1.175	0.54753	D	0.999983	D	0.89917	1.0	D	0.97110	1.0	T	0.01545	-1.1328	9	.	.	.	.	18.3069	0.90185	0.0:1.0:0.0:0.0	.	207	Q2M1K9	ZN423_HUMAN	Y	207;90	ENSP00000262383:D207Y;ENSP00000442321:D90Y	.	D	-	1	0	ZNF423	48229945	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.709000	0.84645	2.331000	0.79229	0.561000	0.74099	GAC		0.602	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069		Missense_Mutation
MYBBP1A	10514	broad.mit.edu	37	17	4455904	4455904	+	Missense_Mutation	SNP	C	C	A			TCGA-61-2094-01	TCGA-61-2094-11							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-61-2094-01	TCGA-61-2094-11	g.chr17:4455904C>A	ENST00000254718.4	-	6	885	c.579G>T	c.(577-579)ttG>ttT	p.L193F	MYBBP1A_ENST00000381556.2_Missense_Mutation_p.L193F			Q9BQG0	MBB1A_HUMAN	MYB binding protein (P160) 1a	193	Interaction with MYB. {ECO:0000250}.				cellular response to glucose starvation (GO:0042149)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleocytoplasmic transport (GO:0006913)|osteoblast differentiation (GO:0001649)|positive regulation of cell cycle arrest (GO:0071158)|regulation of transcription, DNA-templated (GO:0006355)|respiratory electron transport chain (GO:0022904)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|NLS-dependent protein nuclear import complex (GO:0042564)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA-directed DNA polymerase activity (GO:0003887)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding (GO:0043565)|transcription factor binding (GO:0008134)	p.L193F(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)	24						GGATCTCCTGCAATGTGGCCT	0.567																																																1	Substitution - Missense(1)	ovary(1)	17											54.0	49.0	50.0					17																	4455904		2203	4300	6503	4402653	SO:0001583	missense	10514			AF147709	CCDS11046.1, CCDS42238.1	17p13.3	2008-07-18			ENSG00000132382	ENSG00000132382			7546	protein-coding gene	gene with protein product	"""p53-activated protein-2"""	604885				10644447	Standard	NM_014520		Approved	P160, PAP2, FLJ37886	uc002fxz.4	Q9BQG0	OTTHUMG00000090747	ENST00000254718.4:c.579G>T	17.37:g.4455904C>A	ENSP00000254718:p.Leu193Phe	Unknown		x	x	x	4402653	Q86VM3|Q9BW49|Q9P0V5|Q9UF99	Missense_Mutation	SNP	ENST00000254718.4	37	CCDS11046.1	SNP	25	Broad	.	.	.	.	.	.	.	.	.	.	C	7.855	0.724834	0.15439	.	.	ENSG00000132382	ENST00000381556;ENST00000254718;ENST00000426435	T;T	0.56776	0.44;0.44	5.78	-5.58	0.02512	Armadillo-type fold (1);	0.226724	0.46145	N	0.000318	T	0.19005	0.0456	N	0.17082	0.46	0.09310	N	0.999992	B;B	0.09022	0.002;0.002	B;B	0.14023	0.01;0.006	T	0.35992	-0.9766	10	0.02654	T	1	-5.9115	0.8857	0.01243	0.268:0.2072:0.1155:0.4093	.	193;193	Q9BQG0;Q9BQG0-2	MBB1A_HUMAN;.	F	193	ENSP00000370968:L193F;ENSP00000254718:L193F	ENSP00000254718:L193F	L	-	3	2	MYBBP1A	4402653	0.650000	0.27331	0.000000	0.03702	0.005000	0.04900	-0.086000	0.11233	-0.525000	0.06391	-0.768000	0.03414	TTG		0.567	MYBBP1A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000207488.2	NM_014520		Missense_Mutation
TP53	7157	broad.mit.edu	37	17	7578542	7578542	+	Missense_Mutation	SNP	G	G	C			TCGA-61-2094-01	TCGA-61-2094-11							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-61-2094-01	TCGA-61-2094-11	g.chr17:7578542G>C	ENST00000269305.4	-	5	577	c.388C>G	c.(388-390)Ctc>Gtc	p.L130V	TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.L130V|TP53_ENST00000420246.2_Missense_Mutation_p.L130V|TP53_ENST00000455263.2_Missense_Mutation_p.L130V|TP53_ENST00000413465.2_Missense_Mutation_p.L130V|TP53_ENST00000359597.4_Missense_Mutation_p.L130V	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	130	Interaction with AXIN1. {ECO:0000250}.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with FBXO42.|Required for interaction with ZNF385A.		L -> F (in sporadic cancers; somatic mutation).|L -> H (in sporadic cancers; somatic mutation).|L -> I (in a sporadic cancer; somatic mutation).|L -> P (in sporadic cancers; somatic mutation).|L -> R (in sporadic cancers; somatic mutation).|L -> V (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.L130F(16)|p.L130V(11)|p.0?(8)|p.Y126_K132delYSPALNK(6)|p.L37F(3)|p.Y126_N131delYSPALN(3)|p.L130fs*19(2)|p.Y126fs*11(1)|p.S127_Q136del10(1)|p.A129_L130insXX(1)|p.A129_N131delALN(1)|p.V73fs*9(1)|p.Y126fs*18(1)|p.L130fs*39(1)|p.L130fs*16(1)|p.A129_K132delALNK(1)|p.L130_M133delLNKM(1)|p.N131fs*27(1)|p.P13fs*18(1)|p.S127fs*36(1)|p.L130del(1)|p.L130fs*40(1)|p.L130fs*41(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)	ATCTTGTTGAGGGCAGGGGAG	0.552		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	tumor protein p53		"""L, E, M, O"""	65	Substitution - Missense(30)|Deletion - In frame(14)|Deletion - Frameshift(9)|Whole gene deletion(8)|Insertion - Frameshift(3)|Insertion - In frame(1)	large_intestine(11)|breast(9)|ovary(6)|upper_aerodigestive_tract(5)|lung(5)|central_nervous_system(4)|haematopoietic_and_lymphoid_tissue(4)|prostate(4)|bone(4)|urinary_tract(3)|oesophagus(3)|adrenal_gland(2)|stomach(2)|biliary_tract(1)|skin(1)|liver(1)	17											45.0	46.0	45.0					17																	7578542		2203	4300	6503	7519267	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.388C>G	17.37:g.7578542G>C	ENSP00000269305:p.Leu130Val	Unknown		x	x	x	7519267	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	SNP	35	Broad	.	.	.	.	.	.	.	.	.	.	G	18.51	3.640631	0.67244	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000514944;ENST00000508793	D;D;D;D;D;D;D;D	0.99867	-7.31;-7.31;-7.31;-7.31;-7.31;-7.31;-7.31;-7.31	5.48	5.48	0.80851	p53, DNA-binding domain (1);p53-like transcription factor, DNA-binding (1);p53/RUNT-type transcription factor, DNA-binding domain (1);	0.000000	0.85682	D	0.000000	D	0.99869	0.9938	M	0.86953	2.85	0.58432	D	0.999992	D;D;D;P;D;D;D	0.76494	0.996;0.998;0.995;0.924;0.998;0.997;0.999	P;D;D;B;D;D;D	0.91635	0.899;0.999;0.98;0.388;0.999;0.999;0.989	D	0.96621	0.9459	10	0.87932	D	0	-29.0594	17.2272	0.86973	0.0:0.0:1.0:0.0	.	91;130;130;37;130;130;130	B4E095;P04637-2;P04637-3;E9PFT5;P04637;Q1MSW8;E7EQX7	.;.;.;.;P53_HUMAN;.;.	V	130;130;130;130;130;130;119;37;37;130	ENSP00000410739:L130V;ENSP00000352610:L130V;ENSP00000269305:L130V;ENSP00000398846:L130V;ENSP00000391127:L130V;ENSP00000391478:L130V;ENSP00000423862:L37V;ENSP00000424104:L130V	ENSP00000269305:L130V	L	-	1	0	TP53	7519267	1.000000	0.71417	0.930000	0.37139	0.764000	0.43329	5.638000	0.67861	2.733000	0.93635	0.655000	0.94253	CTC		0.552	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		Missense_Mutation
NF1	4763	broad.mit.edu	37	17	29556136	29556136	+	Nonsense_Mutation	SNP	C	C	T			TCGA-61-2094-01	TCGA-61-2094-11							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-61-2094-01	TCGA-61-2094-11	g.chr17:29556136C>T	ENST00000358273.4	+	21	2886	c.2503C>T	c.(2503-2505)Cag>Tag	p.Q835*	NF1_ENST00000356175.3_Nonsense_Mutation_p.Q835*	NM_001042492.2	NP_001035957.1	P21359	NF1_HUMAN	neurofibromin 1	835					actin cytoskeleton organization (GO:0030036)|adrenal gland development (GO:0030325)|artery morphogenesis (GO:0048844)|brain development (GO:0007420)|camera-type eye morphogenesis (GO:0048593)|cell communication (GO:0007154)|cerebral cortex development (GO:0021987)|cognition (GO:0050890)|collagen fibril organization (GO:0030199)|extracellular matrix organization (GO:0030198)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|forebrain astrocyte development (GO:0021897)|forebrain morphogenesis (GO:0048853)|heart development (GO:0007507)|liver development (GO:0001889)|MAPK cascade (GO:0000165)|metanephros development (GO:0001656)|myelination in peripheral nervous system (GO:0022011)|negative regulation of angiogenesis (GO:0016525)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of cell migration (GO:0030336)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of MAP kinase activity (GO:0043407)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of neurotransmitter secretion (GO:0046929)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of Rac protein signal transduction (GO:0035021)|negative regulation of Ras protein signal transduction (GO:0046580)|negative regulation of transcription factor import into nucleus (GO:0042992)|neural tube development (GO:0021915)|osteoblast differentiation (GO:0001649)|peripheral nervous system development (GO:0007422)|phosphatidylinositol 3-kinase signaling (GO:0014065)|pigmentation (GO:0043473)|positive regulation of adenylate cyclase activity (GO:0045762)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001241)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Ras GTPase activity (GO:0032320)|Ras protein signal transduction (GO:0007265)|regulation of angiogenesis (GO:0045765)|regulation of blood vessel endothelial cell migration (GO:0043535)|regulation of bone resorption (GO:0045124)|regulation of cell-matrix adhesion (GO:0001952)|regulation of glial cell differentiation (GO:0045685)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of Ras GTPase activity (GO:0032318)|regulation of synaptic transmission, GABAergic (GO:0032228)|response to hypoxia (GO:0001666)|Schwann cell development (GO:0014044)|skeletal muscle tissue development (GO:0007519)|smooth muscle tissue development (GO:0048745)|spinal cord development (GO:0021510)|sympathetic nervous system development (GO:0048485)|visual learning (GO:0008542)|wound healing (GO:0042060)	axon (GO:0030424)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|membrane (GO:0016020)|nucleus (GO:0005634)	phosphatidylcholine binding (GO:0031210)|phosphatidylethanolamine binding (GO:0008429)|Ras GTPase activator activity (GO:0005099)	p.0?(8)|p.?(4)	NF1/ACCN1(2)	autonomic_ganglia(12)|breast(11)|central_nervous_system(72)|cervix(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(59)|kidney(9)|large_intestine(39)|liver(1)|lung(80)|ovary(20)|pancreas(2)|prostate(2)|skin(8)|soft_tissue(249)|stomach(2)|thyroid(1)|upper_aerodigestive_tract(5)|urinary_tract(9)	599		all_cancers(10;1.29e-12)|all_epithelial(10;0.00347)|all_hematologic(16;0.00556)|Acute lymphoblastic leukemia(14;0.00593)|Breast(31;0.014)|Myeloproliferative disorder(56;0.0255)|all_lung(9;0.0321)|Lung NSC(157;0.0659)		UCEC - Uterine corpus endometrioid carcinoma (4;4.38e-05)|all cancers(4;1.64e-26)|Epithelial(4;9.15e-23)|OV - Ovarian serous cystadenocarcinoma(4;3.58e-21)|GBM - Glioblastoma multiforme(4;0.00146)		AGACTCCCTACAGGAATGGAT	0.517			"""D, Mis, N, F, S, O"""		"""neurofibroma, glioma"""	"""neurofibroma, glioma"""			Neurofibromatosis, type 1	TCGA GBM(6;<1E-08)|TSP Lung(7;0.0071)|TCGA Ovarian(3;0.0088)																												yes	Rec	yes	Neurofibromatosis type 1	17	17q12	4763	neurofibromatosis type 1 gene		O	12	Whole gene deletion(8)|Unknown(4)	soft_tissue(7)|autonomic_ganglia(2)|central_nervous_system(2)|lung(1)	17											35.0	31.0	33.0					17																	29556136		2203	4299	6502	26580262	SO:0001587	stop_gained	4763	Familial Cancer Database	NF1, von Recklinghausen disease, incl.: Hereditary Spinal Neurofibromatosis, Neurofibromatosis-Noonan syndrome		CCDS11264.1, CCDS42292.1, CCDS45645.1	17q11.2	2014-09-17	2008-07-31		ENSG00000196712	ENSG00000196712			7765	protein-coding gene	gene with protein product	"""neurofibromatosis"", ""von Recklinghausen disease"", ""Watson disease"""	613113				1715669	Standard	NM_000267		Approved		uc002hgg.3	P21359	OTTHUMG00000132871	ENST00000358273.4:c.2503C>T	17.37:g.29556136C>T	ENSP00000351015:p.Gln835*	Unknown		x	x	x	26580262	O00662|Q14284|Q14930|Q14931|Q9UMK3	Nonsense_Mutation	SNP	ENST00000358273.4	37	CCDS42292.1	SNP	17	Broad	.	.	.	.	.	.	.	.	.	.	.	44	10.961969	0.99495	.	.	ENSG00000196712	ENST00000358273;ENST00000356175;ENST00000456735	.	.	.	5.59	5.59	0.84812	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.09843	T	0.71	.	19.5802	0.95464	0.0:1.0:0.0:0.0	.	.	.	.	X	835;835;501	.	ENSP00000348498:Q835X	Q	+	1	0	NF1	26580262	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.452000	0.80683	2.634000	0.89283	0.555000	0.69702	CAG		0.517	NF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256351.2	NM_000267		Nonsense_Mutation
AATF	26574	broad.mit.edu	37	17	35413929	35413929	+	Missense_Mutation	SNP	C	C	G			TCGA-61-2094-01	TCGA-61-2094-11							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-61-2094-01	TCGA-61-2094-11	g.chr17:35413929C>G	ENST00000225402.5	+	12	1899	c.1648C>G	c.(1648-1650)Cag>Gag	p.Q550E	AATF_ENST00000590321.1_3'UTR	NM_012138.3	NP_036270.1	Q9NY61	AATF_HUMAN	apoptosis antagonizing transcription factor	550					apoptotic signaling pathway (GO:0097190)|cell adhesion (GO:0007155)|cellular response to DNA damage stimulus (GO:0006974)|embryonic cleavage (GO:0040016)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of apoptotic process (GO:0043066)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of superoxide anion generation (GO:0032929)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of mitotic cell cycle (GO:0007346)|ribosome biogenesis (GO:0042254)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	leucine zipper domain binding (GO:0043522)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.Q550E(1)		cervix(2)|endometrium(1)|large_intestine(4)|lung(7)|ovary(2)|skin(2)	18		Breast(25;0.00607)				TCTTTTTGGCCAGCTCCACCC	0.547																																					NSCLC(49;901 1159 19183 41572 46244)											1	Substitution - Missense(1)	ovary(1)	17											175.0	152.0	160.0					17																	35413929		2203	4300	6503	32488042	SO:0001583	missense	26574			AF083208	CCDS32632.1	17q12	2014-05-06			ENSG00000108270	ENSG00000275700			19235	protein-coding gene	gene with protein product		608463				11027528, 10783144	Standard	NM_012138		Approved	DED, CHE-1, CHE1, BFR2	uc002hni.3	Q9NY61	OTTHUMG00000188458	ENST00000225402.5:c.1648C>G	17.37:g.35413929C>G	ENSP00000225402:p.Gln550Glu	Unknown		x	x	x	32488042	A6NCJ6|B3KQ26|Q9P0A4|Q9UNX5	Missense_Mutation	SNP	ENST00000225402.5	37	CCDS32632.1	SNP	21	Broad	.	.	.	.	.	.	.	.	.	.	C	12.49	1.953691	0.34471	.	.	ENSG00000108270	ENST00000225402	.	.	.	5.63	4.63	0.57726	.	0.446628	0.25091	N	0.033217	T	0.41396	0.1157	L	0.50333	1.59	0.18873	N	0.999986	B	0.19935	0.04	B	0.12837	0.008	T	0.40117	-0.9580	9	0.62326	D	0.03	-0.2992	9.9282	0.41505	0.4184:0.5816:0.0:0.0	.	550	Q9NY61	AATF_HUMAN	E	550	.	ENSP00000225402:Q550E	Q	+	1	0	AATF	32488042	0.998000	0.40836	0.918000	0.36340	0.473000	0.32948	2.663000	0.46774	1.319000	0.45190	0.591000	0.81541	CAG		0.547	AATF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451543.1	NM_012138		Missense_Mutation
CNTNAP1	8506	broad.mit.edu	37	17	40839888	40839888	+	Missense_Mutation	SNP	C	C	G			TCGA-61-2094-01	TCGA-61-2094-11							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-61-2094-01	TCGA-61-2094-11	g.chr17:40839888C>G	ENST00000264638.4	+	8	1412	c.1195C>G	c.(1195-1197)Ctt>Gtt	p.L399V	CTD-3193K9.3_ENST00000592440.1_RNA	NM_003632.2	NP_003623.1	P78357	CNTP1_HUMAN	contactin associated protein 1	399	Laminin G-like 2. {ECO:0000255|PROSITE- ProRule:PRU00122}.				axon cargo transport (GO:0008088)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cytoskeleton organization (GO:0007010)|neuromuscular process controlling balance (GO:0050885)|neuromuscular process controlling posture (GO:0050884)|neuron projection morphogenesis (GO:0048812)|neuronal action potential propagation (GO:0019227)|paranodal junction assembly (GO:0030913)|positive regulation of signal transduction (GO:0009967)|protein localization to paranode region of axon (GO:0002175)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|paranode region of axon (GO:0033270)|voltage-gated potassium channel complex (GO:0008076)	receptor activity (GO:0004872)|SH3 domain binding (GO:0017124)|SH3/SH2 adaptor activity (GO:0005070)	p.L399V(1)		NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(3)|large_intestine(11)|lung(15)|ovary(5)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49		Breast(137;0.000143)		BRCA - Breast invasive adenocarcinoma(366;0.143)		CGGGCTTCTCCTTTTCTCCCG	0.647																																																1	Substitution - Missense(1)	ovary(1)	17											51.0	55.0	53.0					17																	40839888		2203	4300	6503	38093414	SO:0001583	missense	8506			U87223	CCDS11436.1	17q21	2008-07-18				ENSG00000108797			8011	protein-coding gene	gene with protein product	"""neurexin 4"""	602346		NRXN4		9118959	Standard	NM_003632		Approved	p190, Caspr, CNTNAP	uc002iay.3	P78357		ENST00000264638.4:c.1195C>G	17.37:g.40839888C>G	ENSP00000264638:p.Leu399Val	Unknown		x	x	x	38093414		Missense_Mutation	SNP	ENST00000264638.4	37	CCDS11436.1	SNP	24	Broad	.	.	.	.	.	.	.	.	.	.	C	18.97	3.735789	0.69189	.	.	ENSG00000108797	ENST00000264638	D	0.86865	-2.18	5.11	5.11	0.69529	Concanavalin A-like lectin/glucanase (1);Concanavalin A-like lectin/glucanase, subgroup (1);Laminin G domain (2);Laminin G, subdomain 2 (1);	0.000000	0.64402	D	0.000012	D	0.85957	0.5818	L	0.49699	1.58	0.35008	D	0.756661	P	0.41498	0.752	P	0.44860	0.462	D	0.90342	0.4360	10	0.52906	T	0.07	.	12.9271	0.58266	0.0:0.9218:0.0:0.0782	.	399	P78357	CNTP1_HUMAN	V	399	ENSP00000264638:L399V	ENSP00000264638:L399V	L	+	1	0	CNTNAP1	38093414	0.952000	0.32445	0.544000	0.28141	0.664000	0.39144	2.084000	0.41625	2.359000	0.80004	0.655000	0.94253	CTT		0.647	CNTNAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452342.1	NM_003632		Missense_Mutation
CDH7	1005	broad.mit.edu	37	18	63526944	63526944	+	Splice_Site	SNP	G	G	T			TCGA-61-2094-01	TCGA-61-2094-11							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-61-2094-01	TCGA-61-2094-11	g.chr18:63526944G>T	ENST00000397968.2	+	10	1921	c.1495G>T	c.(1495-1497)Gtt>Ttt	p.V499F	CDH7_ENST00000323011.3_Splice_Site_p.V499F|CDH7_ENST00000536984.2_Splice_Site_p.V499F	NM_004361.2	NP_004352.2	Q9ULB5	CADH7_HUMAN	cadherin 7, type 2	499	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.V499F(2)		NS(1)|breast(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(43)|ovary(3)|pancreas(1)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(2)	80		Esophageal squamous(42;0.129)				CTTTTCCTAGGTTATCCAGAA	0.368																																																2	Substitution - Missense(2)	ovary(2)	18											85.0	72.0	77.0					18																	63526944		2202	4299	6501	61677924	SO:0001630	splice_region_variant	1005			AB035301	CCDS11993.1	18q22.1	2010-01-26			ENSG00000081138	ENSG00000081138		"""Cadherins / Major cadherins"""	1766	protein-coding gene	gene with protein product		605806				9615235	Standard	NM_033646		Approved		uc002ljz.3	Q9ULB5	OTTHUMG00000132800	ENST00000397968.2:c.1495-1G>T	18.37:g.63526944G>T		Unknown		x	x	x	61677924	Q9H157	Missense_Mutation	SNP	ENST00000397968.2	37	CCDS11993.1	SNP	44	Broad	.	.	.	.	.	.	.	.	.	.	G	12.83	2.056696	0.36277	.	.	ENSG00000081138	ENST00000323011;ENST00000536984;ENST00000397966;ENST00000397968	T;T;T	0.51071	0.72;0.72;0.72	5.71	2.54	0.30619	Cadherin (3);Cadherin-like (1);	0.302177	0.30538	N	0.009409	T	0.61337	0.2339	M	0.86651	2.83	0.48762	D	0.999706	P;P	0.38582	0.483;0.638	B;P	0.47528	0.272;0.549	T	0.65405	-0.6176	9	.	.	.	.	12.7138	0.57103	0.2611:0.0:0.7389:0.0	.	499;499	F5H5X9;Q9ULB5	.;CADH7_HUMAN	F	499	ENSP00000319166:V499F;ENSP00000443030:V499F;ENSP00000381058:V499F	.	V	+	1	0	CDH7	61677924	1.000000	0.71417	0.999000	0.59377	0.115000	0.19883	3.238000	0.51352	0.789000	0.33779	-0.196000	0.12772	GTT		0.368	CDH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256217.2	NM_033646	Missense_Mutation	Missense_Mutation
SAFB	6294	broad.mit.edu	37	19	5668291	5668291	+	Missense_Mutation	SNP	C	C	G			TCGA-61-2094-01	TCGA-61-2094-11							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-61-2094-01	TCGA-61-2094-11	g.chr19:5668291C>G	ENST00000292123.5	+	21	2844	c.2737C>G	c.(2737-2739)Cgc>Ggc	p.R913G	SAFB_ENST00000592224.1_Missense_Mutation_p.R914G|SAFB_ENST00000588852.1_Missense_Mutation_p.R915G|SAFB_ENST00000538656.1_Missense_Mutation_p.R757G|SAFB_ENST00000454510.1_Missense_Mutation_p.R846G|SAFB_ENST00000433404.1_Missense_Mutation_p.R745G	NM_001201338.1|NM_001201339.1|NM_002967.3	NP_001188267.1|NP_001188268.1|NP_002958.2	Q15424	SAFB1_HUMAN	scaffold attachment factor B	913	Interaction with SAFB2.				chromatin organization (GO:0006325)|growth (GO:0040007)|hormone metabolic process (GO:0042445)|intracellular estrogen receptor signaling pathway (GO:0030520)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|core promoter binding (GO:0001047)|double-stranded DNA binding (GO:0003690)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.R913G(1)		breast(3)|central_nervous_system(1)|endometrium(5)|large_intestine(4)|liver(1)|lung(6)|ovary(2)|skin(1)	23				UCEC - Uterine corpus endometrioid carcinoma (162;0.000222)		CCGCTTCACTCGCCGCTACTG	0.567																																					Colon(88;338 1345 6184 8214 20897)											1	Substitution - Missense(1)	ovary(1)	19											34.0	37.0	36.0					19																	5668291		2203	4299	6502	5619291	SO:0001583	missense	6294			L43631	CCDS12142.1, CCDS56077.1, CCDS59339.1, CCDS59340.1	19p13.3-p13.2	2013-02-12				ENSG00000160633		"""RNA binding motif (RRM) containing"""	10520	protein-coding gene	gene with protein product	"""Hsp27 ERE-TATA binding protein"""	602895				9605873, 8600450	Standard	NM_002967		Approved	HET, SAFB1	uc002mcg.3	Q15424		ENST00000292123.5:c.2737C>G	19.37:g.5668291C>G	ENSP00000292123:p.Arg913Gly	Unknown		x	x	x	5619291	A0AV56|B7Z5B6|B7ZLP6|F5H0H3|O60406|Q59HH8	Missense_Mutation	SNP	ENST00000292123.5	37	CCDS12142.1	SNP	31	Broad	.	.	.	.	.	.	.	.	.	.	C	13.22	2.171886	0.38315	.	.	ENSG00000160633	ENST00000454510;ENST00000540206;ENST00000433404;ENST00000292123;ENST00000538656	T;T;T;T	0.19938	2.2;2.32;2.2;2.11	5.25	4.22	0.49857	.	0.000000	0.49305	D	0.000153	T	0.37544	0.1007	M	0.68952	2.095	0.39665	D	0.970672	P;P;D;P;P;P;P	0.53619	0.934;0.934;0.961;0.934;0.934;0.934;0.934	P;P;P;P;P;P;P	0.56343	0.63;0.63;0.796;0.63;0.63;0.63;0.63	T	0.35251	-0.9796	10	0.72032	D	0.01	-15.8139	12.4304	0.55571	0.0:0.9216:0.0:0.0784	.	714;757;846;912;915;913;914	B7Z1C7;B7Z2F6;F5H0H3;B7ZLP5;A0AV56;Q15424;B7ZLP6	.;.;.;.;.;SAFB1_HUMAN;.	G	846;810;745;913;757	ENSP00000415895:R846G;ENSP00000404545:R745G;ENSP00000292123:R913G;ENSP00000438880:R757G	ENSP00000292123:R913G	R	+	1	0	SAFB	5619291	0.998000	0.40836	0.998000	0.56505	0.344000	0.29017	4.845000	0.62853	1.352000	0.45808	-0.237000	0.12165	CGC		0.567	SAFB-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000451641.2			Missense_Mutation
OR7E24	26648	broad.mit.edu	37	19	9361964	9361964	+	Missense_Mutation	SNP	C	C	T			TCGA-61-2094-01	TCGA-61-2094-11							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-61-2094-01	TCGA-61-2094-11	g.chr19:9361964C>T	ENST00000456448.1	+	1	359	c.245C>T	c.(244-246)tCc>tTc	p.S82F		NM_001079935.1	NP_001073404.1	Q6IFN5	O7E24_HUMAN	olfactory receptor, family 7, subfamily E, member 24	82						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.S82F(1)		endometrium(1)|large_intestine(3)|lung(8)|ovary(1)|prostate(1)|skin(2)	16						TTCTTCCTCTCCAACCTGTCC	0.552																																																1	Substitution - Missense(1)	ovary(1)	19											54.0	52.0	53.0					19																	9361964		2203	4296	6499	9222964	SO:0001583	missense	26648			Y10529	CCDS45955.1	19p13.2	2012-08-09	2004-03-04	2004-03-05		ENSG00000237521		"""GPCR / Class A : Olfactory receptors"""	8396	protein-coding gene	gene with protein product			"""olfactory receptor, family 7, subfamily E, member 24 pseudogene"""	OR7E24P		9268701	Standard	NM_001079935		Approved	OR19-8, HSHT2, OR7E24Q	uc002mlb.1	Q6IFN5		ENST00000456448.1:c.245C>T	19.37:g.9361964C>T	ENSP00000387523:p.Ser82Phe	Unknown		x	x	x	9222964	B9EJD9|Q9UPJ1	Missense_Mutation	SNP	ENST00000456448.1	37	CCDS45955.1	SNP	30	Broad	.	.	.	.	.	.	.	.	.	.	c	11.30	1.597909	0.28445	.	.	ENSG00000237521	ENST00000456448	T	0.01106	5.33	2.92	-3.66	0.04489	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.03095	0.0091	L	0.60455	1.87	0.23089	N	0.998317	D	0.71674	0.998	D	0.68621	0.959	T	0.30880	-0.9963	9	0.72032	D	0.01	.	4.0049	0.09597	0.0:0.2794:0.3528:0.3679	.	82	Q6IFN5	O7E24_HUMAN	F	82	ENSP00000387523:S82F	ENSP00000387523:S82F	S	+	2	0	OR7E24	9222964	0.000000	0.05858	0.959000	0.39883	0.654000	0.38779	-0.187000	0.09656	-0.433000	0.07286	0.436000	0.28706	TCC		0.552	OR7E24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449006.1			Missense_Mutation
PXDN	7837	broad.mit.edu	37	2	1691466	1691466	+	Silent	SNP	G	G	A			TCGA-61-2094-01	TCGA-61-2094-11							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-61-2094-01	TCGA-61-2094-11	g.chr2:1691466G>A	ENST00000252804.4	-	4	404	c.354C>T	c.(352-354)taC>taT	p.Y118Y		NM_012293.1	NP_036425.1	Q92626	PXDN_HUMAN	peroxidasin homolog (Drosophila)	118					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)	p.Y118Y(1)		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)		TCTCATTCTTGTACAGATAGC	0.433																																																1	Substitution - coding silent(1)	ovary(1)	2											71.0	69.0	70.0					2																	1691466		1942	4129	6071	1670473	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.354C>T	2.37:g.1691466G>A		Unknown		x	x	x	1670473	A8QM65|D6W4Y0|Q4KMG2	Silent	SNP	ENST00000252804.4	37	CCDS46221.1	SNP	48	Broad	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	9.761|9.761	1.170140|1.170140	0.21621|0.21621	.|.	.|.	ENSG00000130508|ENSG00000130508	ENST00000447941|ENST00000433670	.|.	.|.	.|.	5.87|5.87	5.87|5.87	0.94306|0.94306	.|.	.|.	.|.	.|.	.|.	.|T	.|0.76962	.|0.4061	.|.	.|.	.|.	0.80722|0.80722	D|D	1|1	.|.	.|.	.|.	.|.	.|.	.|.	.|T	.|0.74247	.|-0.3727	.|4	.|.	.|.	.|.	-54.641|-54.641	20.1937|20.1937	0.98239|0.98239	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|.	.|.	.|.	X|I	42|114	.|.	.|.	Q|T	-|-	1|2	0|0	PXDN|PXDN	1670473|1670473	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.700000|9.700000	0.98707|0.98707	2.775000|2.775000	0.95449|0.95449	0.609000|0.609000	0.83330|0.83330	CAA|ACA		0.433	PXDN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322505.1	XM_056455		Silent
ACVR1C	130399	broad.mit.edu	37	2	158399365	158399366	+	Missense_Mutation	DNP	GC	GC	AA			TCGA-61-2094-01	TCGA-61-2094-11							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-61-2094-01	TCGA-61-2094-11	g.chr2:158399365_158399366GC>AA	ENST00000243349.8	-	6	1312_1313	c.952_953GC>TT	c.(952-954)GCt>TTt	p.A318F	ACVR1C_ENST00000335450.7_Missense_Mutation_p.A238F|ACVR1C_ENST00000409680.3_Missense_Mutation_p.A268F|ACVR1C_ENST00000348328.5_Missense_Mutation_p.A161F	NM_001111032.1|NM_145259.2	NP_001104502.1|NP_660302.2			activin A receptor, type IC									p.A318F(1)		NS(1)|breast(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(6)|liver(1)|lung(18)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)	42						ATGAGCAATAGCAGGTTTACCT	0.361																																																1	Substitution - Missense(1)	ovary(1)	2																																								158107612	SO:0001583	missense	130399			BC022530	CCDS2205.1, CCDS46432.1, CCDS46433.1, CCDS46434.1	2q24.2	2008-02-05			ENSG00000123612	ENSG00000123612			18123	protein-coding gene	gene with protein product		608981					Standard	NM_145259		Approved	ALK7, ACVRLK7	uc002tzk.4	Q8NER5	OTTHUMG00000131964	ENST00000243349.8:c.952_953delinsAA	2.37:g.158399365_158399366delinsAA	ENSP00000243349:p.Ala318Phe	Unknown		x	x	x	158107611		Missense_Mutation	DNP	ENST00000243349.8	37	CCDS2205.1	DNP	34	Broad																																																																																				0.361	ACVR1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254924.2	NM_145259		Missense_Mutation
TTN	7273	broad.mit.edu	37	2	179433209	179433209	+	Missense_Mutation	SNP	C	C	T			TCGA-61-2094-01	TCGA-61-2094-11							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-61-2094-01	TCGA-61-2094-11	g.chr2:179433209C>T	ENST00000591111.1	-	276	72951	c.72727G>A	c.(72727-72729)Gaa>Aaa	p.E24243K	TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.E16944K|TTN_ENST00000460472.2_Missense_Mutation_p.E16819K|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.E25884K|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.E23316K|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.E17011K|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586831.1_RNA			Q8WZ42	TITIN_HUMAN	titin	24243					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.E23314K(1)|p.E17011K(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)			GTTACAATTTCGATGGATGCT	0.388																																																2	Substitution - Missense(2)	ovary(2)	2											165.0	149.0	154.0					2																	179433209		1911	4135	6046	179141455	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.72727G>A	2.37:g.179433209C>T	ENSP00000465570:p.Glu24243Lys	Unknown		x	x	x	179141455	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		SNP	31	Broad	.	.	.	.	.	.	.	.	.	.	C	14.71	2.617403	0.46736	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31	6.03	5.15	0.70609	Immunoglobulin I-set (1);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.62950	0.2470	L	0.47016	1.485	0.58432	D	0.999997	D;D;D;D	0.53885	0.963;0.963;0.963;0.963	B;B;B;B	0.42361	0.385;0.385;0.385;0.385	T	0.68629	-0.5358	9	0.87932	D	0	.	15.6966	0.77506	0.0:0.934:0.0:0.066	.	16819;16944;17011;24243	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	K	23316;16819;17011;16944;16817	ENSP00000343764:E23316K;ENSP00000434586:E16819K;ENSP00000340554:E17011K;ENSP00000352154:E16944K	ENSP00000340554:E17011K	E	-	1	0	TTN	179141455	1.000000	0.71417	0.991000	0.47740	0.955000	0.61496	4.096000	0.57734	1.524000	0.49035	0.655000	0.94253	GAA		0.388	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		Missense_Mutation
CERKL	375298	broad.mit.edu	37	2	182403829	182403829	+	Missense_Mutation	SNP	C	C	T			TCGA-61-2094-01	TCGA-61-2094-11							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-61-2094-01	TCGA-61-2094-11	g.chr2:182403829C>T	ENST00000339098.5	-	13	1605	c.1606G>A	c.(1606-1608)Gtc>Atc	p.V536I	CERKL_ENST00000374969.2_Missense_Mutation_p.V397I|CERKL_ENST00000409440.3_Missense_Mutation_p.V492I|CERKL_ENST00000410087.3_Missense_Mutation_p.V510I|CERKL_ENST00000374970.2_Missense_Mutation_p.V441I			Q49MI3	CERKL_HUMAN	ceramide kinase-like	536					negative regulation of apoptotic process (GO:0043066)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	diacylglycerol kinase activity (GO:0004143)|NAD+ kinase activity (GO:0003951)	p.V510I(1)		NS(1)|breast(1)|endometrium(4)|kidney(3)|large_intestine(4)|lung(13)|ovary(3)|skin(3)	32			OV - Ovarian serous cystadenocarcinoma(117;0.088)			CTAATATGGACCTCTGATGCA	0.373																																																1	Substitution - Missense(1)	ovary(1)	2											138.0	133.0	135.0					2																	182403829		2203	4300	6503	182112074	SO:0001583	missense	375298			BC020465	CCDS33340.1, CCDS33341.1, CCDS42789.1, CCDS46466.1, CCDS54425.1	2q31.3	2005-01-04			ENSG00000188452	ENSG00000188452			21699	protein-coding gene	gene with protein product			"""retinitis pigmentosa 26 (autosomal recessive)"""	RP26		14681825	Standard	NR_027689		Approved		uc002uny.3	Q49MI3	OTTHUMG00000154315	ENST00000339098.5:c.1606G>A	2.37:g.182403829C>T	ENSP00000341159:p.Val536Ile	Unknown		x	x	x	182112074	B2RPL2|B4DEY1|Q49MH9|Q49MI0|Q49MI1|Q49MI2|Q5DVJ2|Q5DVJ4|Q5DVJ5|Q6UZF6|Q6ZP59	Missense_Mutation	SNP	ENST00000339098.5	37	CCDS42789.1	SNP	18	Broad	.	.	.	.	.	.	.	.	.	.	C	11.25	1.584325	0.28268	.	.	ENSG00000188452	ENST00000410087;ENST00000409440;ENST00000374969;ENST00000339098;ENST00000374970	T;T;T;T;T	0.14391	2.51;2.51;2.51;2.51;2.51	5.49	5.49	0.81192	.	0.000000	0.85682	D	0.000000	T	0.14399	0.0348	L	0.52759	1.655	0.37065	D	0.898277	P;P;P;P;P	0.48230	0.907;0.778;0.859;0.793;0.818	P;B;P;B;B	0.45794	0.493;0.262;0.487;0.235;0.408	T	0.02893	-1.1097	10	0.02654	T	1	.	13.0238	0.58804	0.0:0.926:0.0:0.074	.	492;397;441;510;536	B4DEY1;Q49MI3-4;Q49MI3-3;Q49MI3-2;Q49MI3	.;.;.;.;CERKL_HUMAN	I	510;492;397;536;441	ENSP00000386725:V510I;ENSP00000387080:V492I;ENSP00000364108:V397I;ENSP00000341159:V536I;ENSP00000364109:V441I	ENSP00000341159:V536I	V	-	1	0	CERKL	182112074	1.000000	0.71417	1.000000	0.80357	0.959000	0.62525	2.773000	0.47686	2.736000	0.93811	0.655000	0.94253	GTC		0.373	CERKL-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000334811.1			Missense_Mutation
CLK1	1195	broad.mit.edu	37	2	201722576	201722576	+	Missense_Mutation	SNP	G	G	T			TCGA-61-2094-01	TCGA-61-2094-11							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-61-2094-01	TCGA-61-2094-11	g.chr2:201722576G>T	ENST00000321356.4	-	7	832	c.697C>A	c.(697-699)Cat>Aat	p.H233N	CLK1_ENST00000409769.2_Missense_Mutation_p.H56N|CLK1_ENST00000434813.2_Missense_Mutation_p.H275N	NM_004071.3	NP_004062.2	P49759	CLK1_HUMAN	CDC-like kinase 1	233	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cell proliferation (GO:0008283)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|protein autophosphorylation (GO:0046777)|regulation of RNA splicing (GO:0043484)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)	p.H233N(1)		NS(1)|endometrium(2)|kidney(4)|large_intestine(6)|lung(12)|ovary(1)|pancreas(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	33						TGACCATGATGCTCAAACCAT	0.363																																																1	Substitution - Missense(1)	ovary(1)	2											114.0	110.0	111.0					2																	201722576		2203	4300	6503	201430821	SO:0001583	missense	1195			L29219	CCDS2331.1, CCDS54427.1	2q33	2008-05-02			ENSG00000013441	ENSG00000013441		"""CDC-like kinases"""	2068	protein-coding gene	gene with protein product		601951				9856501	Standard	NM_004071		Approved		uc002uwe.2	P49759	OTTHUMG00000132784	ENST00000321356.4:c.697C>A	2.37:g.201722576G>T	ENSP00000326830:p.His233Asn	Unknown		x	x	x	201430821	B4DFW7|Q0P694|Q8N5V8	Missense_Mutation	SNP	ENST00000321356.4	37	CCDS2331.1	SNP	46	Broad	.	.	.	.	.	.	.	.	.	.	G	18.64	3.668110	0.67814	.	.	ENSG00000013441	ENST00000321356;ENST00000357369;ENST00000409769;ENST00000434813	T;T;T	0.63913	-0.07;-0.07;-0.07	5.41	5.41	0.78517	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.049598	0.85682	D	0.000000	T	0.70072	0.3182	L	0.38175	1.15	0.50632	D	0.99988	P;D;D;D	0.64830	0.923;0.993;0.977;0.994	D;D;D;D	0.71870	0.939;0.939;0.975;0.92	T	0.72154	-0.4376	10	0.87932	D	0	.	13.8388	0.63426	0.0759:0.0:0.9241:0.0	.	275;203;233;56	B4DFW7;E9PH13;P49759;B8ZZR0	.;.;CLK1_HUMAN;.	N	233;203;56;275	ENSP00000326830:H233N;ENSP00000386358:H56N;ENSP00000394734:H275N	ENSP00000326830:H233N	H	-	1	0	CLK1	201430821	0.998000	0.40836	1.000000	0.80357	0.998000	0.95712	2.600000	0.46240	2.697000	0.92050	0.563000	0.77884	CAT		0.363	CLK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256192.2			Missense_Mutation
INO80D	54891	broad.mit.edu	37	2	206869554	206869554	+	Silent	SNP	G	G	T			TCGA-61-2094-01	TCGA-61-2094-11							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-61-2094-01	TCGA-61-2094-11	g.chr2:206869554G>T	ENST00000403263.1	-	11	3026	c.2622C>A	c.(2620-2622)acC>acA	p.T874T		NM_017759.4	NP_060229.3	Q53TQ3	IN80D_HUMAN	INO80 complex subunit D	707					DNA recombination (GO:0006310)|DNA repair (GO:0006281)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)		p.T769T(1)|p.T874T(1)		NS(1)|cervix(2)|endometrium(3)|kidney(3)|large_intestine(3)|lung(9)|ovary(2)|prostate(1)|urinary_tract(2)	26						CCTCAAGTTGGGTTGGGAGCA	0.532																																																2	Substitution - coding silent(2)	ovary(2)	2											90.0	92.0	91.0					2																	206869554		2048	4212	6260	206577799	SO:0001819	synonymous_variant	54891				CCDS46500.1	2q33.3	2011-07-06			ENSG00000114933	ENSG00000114933		"""INO80 complex subunits"""	25997	protein-coding gene	gene with protein product						16230350	Standard	NM_017759		Approved	FLJ20309	uc002vaz.4	Q53TQ3	OTTHUMG00000154649	ENST00000403263.1:c.2622C>A	2.37:g.206869554G>T		Unknown		x	x	x	206577799	B3KU68|B9EG77|Q6PJC6|Q6PJU1|Q6PKA1|Q9NXD5	Silent	SNP	ENST00000403263.1	37	CCDS46500.1	SNP	43	Broad																																																																																				0.532	INO80D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336459.1	NM_017759		Silent
VIL1	7429	broad.mit.edu	37	2	219294592	219294592	+	Silent	SNP	G	G	A			TCGA-61-2094-01	TCGA-61-2094-11							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-61-2094-01	TCGA-61-2094-11	g.chr2:219294592G>A	ENST00000248444.5	+	9	958	c.870G>A	c.(868-870)caG>caA	p.Q290Q	VIL1_ENST00000392114.2_5'UTR|VIL1_ENST00000440053.1_Silent_p.Q290Q	NM_007127.2	NP_009058.2	P09327	VILI_HUMAN	villin 1	290	Core.				actin filament capping (GO:0051693)|actin filament depolymerization (GO:0030042)|actin filament polymerization (GO:0030041)|actin filament severing (GO:0051014)|cellular response to epidermal growth factor stimulus (GO:0071364)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|cytoplasmic actin-based contraction involved in cell motility (GO:0060327)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial cell differentiation (GO:0030855)|positive regulation of actin filament bundle assembly (GO:0032233)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell migration (GO:0010634)|protein complex assembly (GO:0006461)|regulation of actin nucleation (GO:0051125)|regulation of cell shape (GO:0008360)|regulation of lamellipodium morphogenesis (GO:2000392)|regulation of wound healing (GO:0061041)|response to bacterium (GO:0009617)	actin filament bundle (GO:0032432)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|lamellipodium (GO:0030027)|microvillus (GO:0005902)|ruffle (GO:0001726)	actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|identical protein binding (GO:0042802)|lysophosphatidic acid binding (GO:0035727)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)|protein homodimerization activity (GO:0042803)	p.Q290Q(1)		NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(20)|ovary(2)|prostate(3)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	41		Renal(207;0.0474)		Epithelial(149;6.88e-07)|all cancers(144;0.00013)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TCCTGGACCAGGGGGGCCTGA	0.572																																																1	Substitution - coding silent(1)	ovary(1)	2											60.0	61.0	61.0					2																	219294592		2203	4300	6503	219002836	SO:0001819	synonymous_variant	7429			X12901	CCDS2417.1	2q35	2012-10-02			ENSG00000127831	ENSG00000127831			12690	protein-coding gene	gene with protein product		193040		VIL		2846586	Standard	NM_007127		Approved	D2S1471	uc002via.3	P09327	OTTHUMG00000133112	ENST00000248444.5:c.870G>A	2.37:g.219294592G>A		Unknown		x	x	x	219002836	B2R9A7|Q53S11|Q96AC8	Silent	SNP	ENST00000248444.5	37	CCDS2417.1	SNP	35	Broad																																																																																				0.572	VIL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256778.3	NM_007127		Silent
BPIFB2	80341	broad.mit.edu	37	20	31608383	31608383	+	Missense_Mutation	SNP	G	G	A			TCGA-61-2094-01	TCGA-61-2094-11							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-61-2094-01	TCGA-61-2094-11	g.chr20:31608383G>A	ENST00000170150.3	+	13	1379	c.1184G>A	c.(1183-1185)gGc>gAc	p.G395D		NM_025227.1	NP_079503.1	Q8N4F0	BPIB2_HUMAN	BPI fold containing family B, member 2	395						extracellular vesicular exosome (GO:0070062)	lipid binding (GO:0008289)	p.G395D(1)									TCCAACGTGGGCTTCATTGAT	0.602																																																1	Substitution - Missense(1)	ovary(1)	20											139.0	112.0	121.0					20																	31608383		2203	4300	6503	31072044	SO:0001583	missense	80341			AF465765	CCDS13210.1	20q11.21	2011-08-04	2011-07-29	2011-07-29	ENSG00000078898	ENSG00000078898		"""BPI fold containing"""	16177	protein-coding gene	gene with protein product		614108	"""bactericidal/permeability-increasing protein-like 1"""	C20orf184, BPIL1		12185532, 21787333	Standard	NM_025227		Approved	dJ726C3.2, LPLUNC2	uc002wyj.4	Q8N4F0	OTTHUMG00000032232	ENST00000170150.3:c.1184G>A	20.37:g.31608383G>A	ENSP00000170150:p.Gly395Asp	Unknown		x	x	x	31072044	Q6UWN3|Q6ZME0|Q8NFQ7	Missense_Mutation	SNP	ENST00000170150.3	37	CCDS13210.1	SNP	42	Broad	.	.	.	.	.	.	.	.	.	.	G	18.79	3.699107	0.68501	.	.	ENSG00000078898	ENST00000170150	T	0.11495	2.77	5.46	5.46	0.80206	.	0.000000	0.52532	D	0.000072	T	0.36908	0.0984	M	0.84082	2.675	0.50171	D	0.999851	D	0.89917	1.0	D	0.97110	1.0	T	0.13229	-1.0517	10	0.87932	D	0	-21.392	15.1501	0.72689	0.0:0.0:1.0:0.0	.	395	Q8N4F0	BPIB2_HUMAN	D	395	ENSP00000170150:G395D	ENSP00000170150:G395D	G	+	2	0	BPIFB2	31072044	1.000000	0.71417	1.000000	0.80357	0.535000	0.34838	4.394000	0.59671	2.721000	0.93114	0.655000	0.94253	GGC		0.602	BPIFB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078652.2	NM_025227		Missense_Mutation
TTPAL	79183	broad.mit.edu	37	20	43108870	43108870	+	Silent	SNP	C	C	T	rs374073244		TCGA-61-2094-01	TCGA-61-2094-11							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-61-2094-01	TCGA-61-2094-11	g.chr20:43108870C>T	ENST00000372904.3	+	3	374	c.231C>T	c.(229-231)gaC>gaT	p.D77D	TTPAL_ENST00000372906.2_Silent_p.D77D|TTPAL_ENST00000262605.4_Silent_p.D77D	NM_024331.4	NP_077307.2	Q9BTX7	TTPAL_HUMAN	tocopherol (alpha) transfer protein-like	77						intracellular (GO:0005622)|membrane (GO:0016020)	transporter activity (GO:0005215)	p.D77D(1)		breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(2)|ovary(2)|skin(5)	18						CATCCCTCGACGATGCCTTCC	0.597																																																1	Substitution - coding silent(1)	ovary(1)	20						C	,	0,4406		0,0,2203	108.0	69.0	82.0		231,231	-5.1	0.1	20		82	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	TTPAL	NM_001039199.1,NM_024331.3	,	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	,	77/343,77/343	43108870	1,13005	2203	4300	6503	42542284	SO:0001819	synonymous_variant	79183			BC003071	CCDS13332.2	20q13.12	2008-06-23	2008-06-23	2008-06-23	ENSG00000124120	ENSG00000124120			16114	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 121"""	C20orf121			Standard	NM_024331		Approved	dJ179M20.3	uc002xmd.2	Q9BTX7	OTTHUMG00000032536	ENST00000372904.3:c.231C>T	20.37:g.43108870C>T		Unknown		x	x	x	42542284	E1P5X3|Q5QPC1|Q9H1G2|Q9NQG8	Silent	SNP	ENST00000372904.3	37	CCDS13332.2	SNP	19	Broad																																																																																				0.597	TTPAL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106886.2	NM_024331		Silent
FBLN2	2199	broad.mit.edu	37	3	13678069	13678069	+	Splice_Site	SNP	G	G	A			TCGA-61-2094-01	TCGA-61-2094-11							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-61-2094-01	TCGA-61-2094-11	g.chr3:13678069G>A	ENST00000295760.7	+	16	3266		c.e16+1		FBLN2_ENST00000492059.1_Splice_Site|FBLN2_ENST00000404922.3_Splice_Site|FBLN2_ENST00000535798.1_Splice_Site	NM_001998.2	NP_001989.2	P98095	FBLN2_HUMAN	fibulin 2						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)	p.?(2)		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)			TCTCCAAAACGTGAGTGTCCC	0.602																																																2	Unknown(2)	ovary(2)	3											58.0	63.0	61.0					3																	13678069		2160	4267	6427	13653070	SO:0001630	splice_region_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.3197+1G>A	3.37:g.13678069G>A		Unknown		x	x	x	13653070	B7Z9C5|Q8IUI0|Q8IUI1	Splice_Site_SNP	SNP	ENST00000295760.7	37	CCDS46762.1	SNP	40	Broad	.	.	.	.	.	.	.	.	.	.	G	11.11	1.542373	0.27563	.	.	ENSG00000163520	ENST00000535798;ENST00000404922;ENST00000295760;ENST00000492059;ENST00000295761;ENST00000421373	.	.	.	5.11	4.24	0.50183	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.5371	0.61652	0.0752:0.0:0.9248:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	FBLN2	13653070	1.000000	0.71417	0.986000	0.45419	0.144000	0.21451	9.752000	0.98900	1.164000	0.42652	-0.136000	0.14681	.		0.602	FBLN2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340083.3	NM_001004019	Intron	Splice_Site_SNP
C3orf20	84077	broad.mit.edu	37	3	14798891	14798891	+	Missense_Mutation	SNP	G	G	A			TCGA-61-2094-01	TCGA-61-2094-11							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-61-2094-01	TCGA-61-2094-11	g.chr3:14798891G>A	ENST00000253697.3	+	13	2406	c.1954G>A	c.(1954-1956)Gag>Aag	p.E652K	C3orf20_ENST00000412910.1_Missense_Mutation_p.E530K|C3orf20_ENST00000435614.1_Missense_Mutation_p.E530K	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	652						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.E652K(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						GAAGGCCCGCGAGGGGCGCAG	0.657																																																1	Substitution - Missense(1)	ovary(1)	3											20.0	22.0	21.0					3																	14798891		2202	4299	6501	14773895	SO:0001583	missense	84077			AL136781	CCDS33706.1, CCDS54555.1	3p25.1	2011-01-25			ENSG00000131379	ENSG00000131379			25320	protein-coding gene	gene with protein product						11230166	Standard	NM_032137		Approved	DKFZP434N1817	uc003byy.3	Q8ND61	OTTHUMG00000155545	ENST00000253697.3:c.1954G>A	3.37:g.14798891G>A	ENSP00000253697:p.Glu652Lys	Unknown		x	x	x	14773895	Q7L0U6|Q8NCP2|Q9H0I7	Missense_Mutation	SNP	ENST00000253697.3	37	CCDS33706.1	SNP	37	Broad	.	.	.	.	.	.	.	.	.	.	G	14.67	2.605587	0.46527	.	.	ENSG00000131379	ENST00000253697;ENST00000435614;ENST00000412910	T;T;T	0.10288	3.18;2.89;2.89	4.13	3.25	0.37280	.	0.125712	0.36234	N	0.002719	T	0.15132	0.0365	M	0.68317	2.08	0.09310	N	1	D;D	0.65815	0.995;0.995	P;P	0.47075	0.536;0.536	T	0.09079	-1.0691	10	0.51188	T	0.08	-9.6901	7.7822	0.29072	0.1157:0.0:0.8843:0.0	.	530;652	Q8ND61-2;Q8ND61	.;CC020_HUMAN	K	652;530;530	ENSP00000253697:E652K;ENSP00000402933:E530K;ENSP00000396081:E530K	ENSP00000253697:E652K	E	+	1	0	C3orf20	14773895	0.059000	0.20769	0.005000	0.12908	0.081000	0.17604	1.426000	0.34870	1.084000	0.41184	0.297000	0.19635	GAG		0.657	C3orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340586.1	NM_032137		Missense_Mutation
ZKSCAN7	55888	broad.mit.edu	37	3	44611962	44611962	+	Missense_Mutation	SNP	C	C	G			TCGA-61-2094-01	TCGA-61-2094-11							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-61-2094-01	TCGA-61-2094-11	g.chr3:44611962C>G	ENST00000273320.3	+	6	1789	c.1360C>G	c.(1360-1362)Ctc>Gtc	p.L454V	ZKSCAN7_ENST00000426540.1_Missense_Mutation_p.L454V|ZKSCAN7_ENST00000341840.3_Intron|ZKSCAN7_ENST00000431636.1_Intron|RP11-944L7.4_ENST00000457331.1_RNA|RP11-944L7.5_ENST00000419137.1_Intron	NM_018651.2	NP_061121.2	Q9P0L1	ZKSC7_HUMAN	zinc finger with KRAB and SCAN domains 7	454					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.L454V(1)									CAGCTCCCATCTCATTCAACA	0.478																																																1	Substitution - Missense(1)	ovary(1)	3											39.0	41.0	40.0					3																	44611962		2200	4298	6498	44586966	SO:0001583	missense	55888			L32164, AY280798	CCDS2714.1, CCDS2715.1, CCDS74924.1	3p21.32	2013-01-09	2013-01-09	2013-01-09	ENSG00000196345	ENSG00000196345		"""Zinc fingers, C2H2-type"", ""-"", ""-"", ""-"""	12955	protein-coding gene	gene with protein product			"""zinc finger protein 64"", ""zinc finger protein 448"", ""zinc finger protein 167"""	ZNF64, ZNF448, ZNF167		7814019, 1505991	Standard	XM_005265323		Approved	FLJ12738, ZSCAN39	uc003cnj.3	Q9P0L1	OTTHUMG00000133094	ENST00000273320.3:c.1360C>G	3.37:g.44611962C>G	ENSP00000273320:p.Leu454Val	Unknown		x	x	x	44586966	A0PJV3|A8K5H0|Q6WL09|Q96FQ2	Missense_Mutation	SNP	ENST00000273320.3	37	CCDS2715.1	SNP	32	Broad	.	.	.	.	.	.	.	.	.	.	.	13.63	2.294099	0.40594	.	.	ENSG00000196345	ENST00000426540;ENST00000273320;ENST00000447279	T;T;T	0.52983	0.64;0.64;0.64	4.35	4.35	0.52113	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.30244	N	0.010068	T	0.69584	0.3127	M	0.82323	2.585	0.09310	N	1	D;D	0.67145	0.996;0.982	D;P	0.67382	0.951;0.902	T	0.64879	-0.6303	10	0.72032	D	0.01	-8.4615	15.8256	0.78703	0.0:1.0:0.0:0.0	.	324;454	A7MAY2;Q9P0L1	.;ZN167_HUMAN	V	454;454;303	ENSP00000395524:L454V;ENSP00000273320:L454V;ENSP00000405034:L303V	ENSP00000273320:L454V	L	+	1	0	ZNF167	44586966	0.412000	0.25392	0.891000	0.34965	0.821000	0.46438	1.040000	0.30278	2.267000	0.75376	0.650000	0.86243	CTC		0.478	ZKSCAN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256752.4	NM_018651		Missense_Mutation
ROBO2	6092	broad.mit.edu	37	3	77600071	77600071	+	Missense_Mutation	SNP	T	T	A			TCGA-61-2094-01	TCGA-61-2094-11							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-61-2094-01	TCGA-61-2094-11	g.chr3:77600071T>A	ENST00000461745.1	+	8	2062	c.1162T>A	c.(1162-1164)Tac>Aac	p.Y388N	ROBO2_ENST00000487694.3_Missense_Mutation_p.Y404N|ROBO2_ENST00000332191.8_Missense_Mutation_p.Y388N	NM_002942.4	NP_002933.1	Q9HCK4	ROBO2_HUMAN	roundabout, axon guidance receptor, homolog 2 (Drosophila)	388	Ig-like C2-type 4.				apoptotic process involved in luteolysis (GO:0061364)|axon guidance (GO:0007411)|axon midline choice point recognition (GO:0016199)|brain development (GO:0007420)|cellular response to hormone stimulus (GO:0032870)|central nervous system development (GO:0007417)|homophilic cell adhesion (GO:0007156)|metanephros development (GO:0001656)|negative regulation of negative chemotaxis (GO:0050925)|negative regulation of synapse assembly (GO:0051964)|olfactory bulb interneuron development (GO:0021891)|positive regulation of axonogenesis (GO:0050772)|retinal ganglion cell axon guidance (GO:0031290)|ureteric bud development (GO:0001657)	axolemma (GO:0030673)|cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)	axon guidance receptor activity (GO:0008046)|identical protein binding (GO:0042802)	p.Y404N(1)|p.Y388N(1)		NS(1)|biliary_tract(5)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(3)|large_intestine(23)|liver(1)|lung(52)|ovary(2)|pancreas(2)|prostate(5)|skin(8)|upper_aerodigestive_tract(1)	117				Epithelial(33;0.00199)|LUSC - Lung squamous cell carcinoma(21;0.008)|BRCA - Breast invasive adenocarcinoma(55;0.00884)|Lung(72;0.0183)|KIRC - Kidney renal clear cell carcinoma(39;0.0832)|Kidney(39;0.103)		CGACGCGGGTTACTACATCTG	0.468																																																2	Substitution - Missense(2)	ovary(2)	3											76.0	75.0	75.0					3																	77600071		1927	4142	6069	77682761	SO:0001583	missense	6092			AF040991	CCDS43109.1, CCDS54609.1	3p12.3	2013-02-11	2001-11-28		ENSG00000185008	ENSG00000185008		"""Immunoglobulin superfamily / I-set domain containing"", ""Fibronectin type III domain containing"""	10250	protein-coding gene	gene with protein product		602431	"""roundabout (axon guidance receptor, Drosophila) homolog 2"""			9458045	Standard	NM_002942		Approved	KIAA1568	uc003dpy.4	Q9HCK4	OTTHUMG00000158935	ENST00000461745.1:c.1162T>A	3.37:g.77600071T>A	ENSP00000417164:p.Tyr388Asn	Unknown		x	x	x	77682761	O43608|Q19AB4|Q19AB5	Missense_Mutation	SNP	ENST00000461745.1	37	CCDS43109.1	SNP	61	Broad	.	.	.	.	.	.	.	.	.	.	T	17.60	3.430991	0.62844	.	.	ENSG00000185008	ENST00000487694;ENST00000403211;ENST00000343019;ENST00000461745;ENST00000332191;ENST00000398467	T;T;T	0.65549	-0.16;-0.16;-0.16	5.49	4.33	0.51752	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.41823	D	0.000810	T	0.57227	0.2039	N	0.03917	-0.325	0.47737	D	0.999507	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.85130	0.997;0.991;0.997	T	0.70699	-0.4800	9	0.54805	T	0.06	.	11.4997	0.50430	0.0:0.0707:0.0:0.9293	.	404;388;388	Q19AB5;F8W703;Q9HCK4	.;.;ROBO2_HUMAN	N	404;404;408;388;388;109	ENSP00000417335:Y404N;ENSP00000417164:Y388N;ENSP00000327536:Y388N	ENSP00000327536:Y388N	Y	+	1	0	ROBO2	77682761	1.000000	0.71417	0.999000	0.59377	0.359000	0.29487	7.997000	0.88414	1.027000	0.39758	0.482000	0.46254	TAC		0.468	ROBO2-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000352600.2	XM_031246		Missense_Mutation
COL6A6	131873	broad.mit.edu	37	3	130293357	130293357	+	Missense_Mutation	SNP	G	G	C			TCGA-61-2094-01	TCGA-61-2094-11							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-61-2094-01	TCGA-61-2094-11	g.chr3:130293357G>C	ENST00000358511.6	+	7	3566	c.3535G>C	c.(3535-3537)Gcg>Ccg	p.A1179P	COL6A6_ENST00000453409.2_Missense_Mutation_p.A1179P	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1179	Nonhelical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)		p.A1179P(1)		NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						CTGTACCACAGCGGGTGAAAG	0.458																																																1	Substitution - Missense(1)	ovary(1)	3											43.0	42.0	43.0					3																	130293357		1945	4157	6102	131776047	SO:0001583	missense	131873			AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.3535G>C	3.37:g.130293357G>C	ENSP00000351310:p.Ala1179Pro	Unknown		x	x	x	131776047	A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Missense_Mutation	SNP	ENST00000358511.6	37	CCDS46911.1	SNP	34	Broad	.	.	.	.	.	.	.	.	.	.	G	3.055	-0.194588	0.06259	.	.	ENSG00000206384	ENST00000358511;ENST00000453409	D;D	0.89875	-2.56;-2.58	5.06	3.13	0.36017	.	0.663424	0.13762	N	0.364488	T	0.78400	0.4277	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.64106	-0.6485	10	0.29301	T	0.29	.	14.8633	0.70397	0.0:0.27:0.73:0.0	.	1179	A6NMZ7	CO6A6_HUMAN	P	1179	ENSP00000351310:A1179P;ENSP00000399236:A1179P	ENSP00000351310:A1179P	A	+	1	0	COL6A6	131776047	0.000000	0.05858	0.054000	0.19295	0.155000	0.21991	-0.089000	0.11180	1.245000	0.43885	0.655000	0.94253	GCG		0.458	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		Missense_Mutation
TACC3	10460	broad.mit.edu	37	4	1730364	1730364	+	Missense_Mutation	SNP	A	A	G			TCGA-61-2094-01	TCGA-61-2094-11							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-61-2094-01	TCGA-61-2094-11	g.chr4:1730364A>G	ENST00000313288.4	+	4	1341	c.1235A>G	c.(1234-1236)gAc>gGc	p.D412G		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	412					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|cytoplasmic sequestering of transcription factor (GO:0042994)|hemopoiesis (GO:0030097)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of cell cycle (GO:0051726)|regulation of microtubule-based process (GO:0032886)|response to hypoxia (GO:0001666)	centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.D412G(1)		central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			AAAATGGATGACCCAAACTTC	0.627																																					Ovarian(120;482 2294 11894 35824)											1	Substitution - Missense(1)	ovary(1)	4											78.0	87.0	84.0					4																	1730364		2203	4300	6503	1700162	SO:0001583	missense	10460			AF093543	CCDS3352.1	4p16.3	2008-07-29			ENSG00000013810	ENSG00000013810			11524	protein-coding gene	gene with protein product		605303				17675670	Standard	NM_006342		Approved	ERIC1	uc003gdo.3	Q9Y6A5	OTTHUMG00000089535	ENST00000313288.4:c.1235A>G	4.37:g.1730364A>G	ENSP00000326550:p.Asp412Gly	Unknown		x	x	x	1700162	Q2NKK4|Q3KQS5|Q9UMQ1	Missense_Mutation	SNP	ENST00000313288.4	37	CCDS3352.1	SNP	10	Broad	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	9.480|9.480	1.097797|1.097797	0.20552|0.20552	.|.	.|.	ENSG00000013810|ENSG00000013810	ENST00000313288|ENST00000470136	T|.	0.28454|.	1.61|.	5.4|5.4	2.87|2.87	0.33458|0.33458	.|.	0.380252|.	0.21086|.	N|.	0.080415|.	T|.	0.56746|.	0.2006|.	L|L	0.54323|0.54323	1.7|1.7	0.45239|0.45239	D|D	0.998249|0.998249	P;B|.	0.40211|.	0.707;0.246|.	B;B|.	0.38655|.	0.278;0.061|.	T|.	0.48536|.	-0.9027|.	10|.	0.42905|.	T|.	0.14|.	-27.264|-27.264	7.0465|7.0465	0.25048|0.25048	0.7953:0.0:0.0724:0.1323|0.7953:0.0:0.0724:0.1323	.|.	412;412|.	B4DYJ1;Q9Y6A5|.	.;TACC3_HUMAN|.	G|W	412|78	ENSP00000326550:D412G|.	ENSP00000326550:D412G|.	D|X	+|+	2|3	0|0	TACC3|TACC3	1700162|1700162	1.000000|1.000000	0.71417|0.71417	0.263000|0.263000	0.24496|0.24496	0.014000|0.014000	0.08584|0.08584	3.417000|3.417000	0.52714|0.52714	0.325000|0.325000	0.23359|0.23359	-0.326000|-0.326000	0.08463|0.08463	GAC|TGA		0.627	TACC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000203730.2			Missense_Mutation
MYLIP	29116	broad.mit.edu	37	6	16143276	16143276	+	Missense_Mutation	SNP	G	G	A			TCGA-61-2094-01	TCGA-61-2094-11							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-61-2094-01	TCGA-61-2094-11	g.chr6:16143276G>A	ENST00000356840.3	+	4	688	c.490G>A	c.(490-492)Gag>Aag	p.E164K	MYLIP_ENST00000349606.4_5'UTR|MIR4639_ENST00000584938.1_RNA	NM_013262.3	NP_037394.2	Q8WY64	MYLIP_HUMAN	myosin regulatory light chain interacting protein	164	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				cellular component movement (GO:0006928)|cholesterol homeostasis (GO:0042632)|negative regulation of low-density lipoprotein particle clearance (GO:0010989)|nervous system development (GO:0007399)|positive regulation of protein catabolic process (GO:0045732)|protein destabilization (GO:0031648)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of low-density lipoprotein particle receptor catabolic process (GO:0032803)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extrinsic component of membrane (GO:0019898)|intracellular (GO:0005622)|plasma membrane (GO:0005886)	cytoskeletal protein binding (GO:0008092)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)	p.E164K(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	28	Breast(50;0.0799)|Ovarian(93;0.103)	all_hematologic(90;0.0895)	Epithelial(50;0.241)			TAAGGAGTTGGAGGGGACCAG	0.443																																																1	Substitution - Missense(1)	ovary(1)	6											71.0	64.0	66.0					6																	16143276		2203	4300	6503	16251255	SO:0001583	missense	29116			AF187016	CCDS4536.1	6p23-p22.3	2011-11-17			ENSG00000007944	ENSG00000007944			21155	protein-coding gene	gene with protein product	"""E3 ubiquitin ligase-inducible degrader of the low density lipoprotein receptor"""	610082				10593918, 11162443, 19688294	Standard	NM_013262		Approved	MIR, IDOL	uc003nbq.3	Q8WY64	OTTHUMG00000016405	ENST00000356840.3:c.490G>A	6.37:g.16143276G>A	ENSP00000349298:p.Glu164Lys	Unknown		x	x	x	16251255	Q5TIA4|Q9BU73|Q9NRL9|Q9UHE7	Missense_Mutation	SNP	ENST00000356840.3	37	CCDS4536.1	SNP	41	Broad	.	.	.	.	.	.	.	.	.	.	G	15.41	2.825179	0.50739	.	.	ENSG00000007944	ENST00000356840	T	0.77620	-1.11	5.57	5.57	0.84162	Band 4.1 domain (1);FERM central domain (2);FERM domain (1);FERM/acyl-CoA-binding protein, 3-helical bundle (1);	0.043357	0.85682	D	0.000000	T	0.59018	0.2163	N	0.10945	0.07	0.80722	D	1	P	0.45348	0.856	P	0.48454	0.578	T	0.60845	-0.7182	10	0.14252	T	0.57	.	19.9047	0.97002	0.0:0.0:1.0:0.0	.	164	Q8WY64	MYLIP_HUMAN	K	164	ENSP00000349298:E164K	ENSP00000349298:E164K	E	+	1	0	MYLIP	16251255	1.000000	0.71417	1.000000	0.80357	0.801000	0.45260	9.358000	0.97109	2.763000	0.94921	0.655000	0.94253	GAG		0.443	MYLIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043864.1	NM_013262		Missense_Mutation
TINAG	27283	broad.mit.edu	37	6	54173463	54173463	+	Missense_Mutation	SNP	C	C	G			TCGA-61-2094-01	TCGA-61-2094-11							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-61-2094-01	TCGA-61-2094-11	g.chr6:54173463C>G	ENST00000259782.4	+	1	211	c.115C>G	c.(115-117)Cac>Gac	p.H39D	TINAG_ENST00000370864.3_Missense_Mutation_p.H21D|TINAG_ENST00000486436.1_3'UTR|TINAG_ENST00000370869.3_Missense_Mutation_p.H35D	NM_014464.3	NP_055279.3	Q9UJW2	TINAG_HUMAN	tubulointerstitial nephritis antigen	39					cell adhesion (GO:0007155)|immune response (GO:0006955)	basement membrane (GO:0005604)	cysteine-type endopeptidase activity (GO:0004197)|nucleotide binding (GO:0000166)|polysaccharide binding (GO:0030247)|scavenger receptor activity (GO:0005044)	p.H39D(1)		NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(1)	34	Lung NSC(77;0.0518)		LUSC - Lung squamous cell carcinoma(124;0.246)			CACTAGGAATCACACCGTTTT	0.393																																																1	Substitution - Missense(1)	ovary(1)	6											128.0	119.0	122.0					6																	54173463		2203	4300	6503	54281422	SO:0001583	missense	27283			AB022277	CCDS4955.1	6p12.1	2008-05-15			ENSG00000137251	ENSG00000137251			14599	protein-coding gene	gene with protein product		606749				10652240	Standard	NM_014464		Approved		uc003pcj.2	Q9UJW2	OTTHUMG00000014893	ENST00000259782.4:c.115C>G	6.37:g.54173463C>G	ENSP00000259782:p.His39Asp	Unknown		x	x	x	54281422	Q5T467|Q9UJW1|Q9ULZ4	Missense_Mutation	SNP	ENST00000259782.4	37	CCDS4955.1	SNP	29	Broad	.	.	.	.	.	.	.	.	.	.	C	1.515	-0.548446	0.04024	.	.	ENSG00000137251	ENST00000370869;ENST00000339741;ENST00000259782;ENST00000370864	T;T;T	0.64085	2.02;-0.08;1.99	5.88	2.86	0.33363	.	0.569489	0.18488	N	0.139732	T	0.29093	0.0723	M	0.67953	2.075	0.21652	N	0.999601	B;B	0.14805	0.0;0.011	B;B	0.08055	0.001;0.003	T	0.36040	-0.9764	10	0.05525	T	0.97	.	7.8334	0.29355	0.0:0.6056:0.3094:0.085	.	39;39	Q9UJW2;Q7Z477	TINAG_HUMAN;.	D	35;39;39;21	ENSP00000359906:H35D;ENSP00000259782:H39D;ENSP00000359901:H21D	ENSP00000259782:H39D	H	+	1	0	TINAG	54281422	0.000000	0.05858	0.876000	0.34364	0.047000	0.14425	0.177000	0.16801	1.448000	0.47680	0.591000	0.81541	CAC		0.393	TINAG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040984.1	NM_014464		Missense_Mutation
ROS1	6098	broad.mit.edu	37	6	117708056	117708056	+	Silent	SNP	C	C	A			TCGA-61-2094-01	TCGA-61-2094-11							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-61-2094-01	TCGA-61-2094-11	g.chr6:117708056C>A	ENST00000368508.3	-	14	2319	c.2121G>T	c.(2119-2121)gtG>gtT	p.V707V	ROS1_ENST00000368507.3_Silent_p.V702V|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	707					cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)	p.V707V(1)	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		GTTTACCTGACACATTTCCTA	0.383			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																		Dom	yes		6	6q22	6098	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)		"""O, E"""	1	Substitution - coding silent(1)	ovary(1)	6											94.0	89.0	91.0					6																	117708056		2203	4300	6503	117814749	SO:0001819	synonymous_variant	6098			M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.2121G>T	6.37:g.117708056C>A		Unknown		x	x	x	117814749	Q15368|Q5TDB5	Silent	SNP	ENST00000368508.3	37	CCDS5116.1	SNP	17	Broad																																																																																				0.383	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			Silent
RAET1L	154064	broad.mit.edu	37	6	150343305	150343305	+	Missense_Mutation	SNP	C	C	T			TCGA-61-2094-01	TCGA-61-2094-11							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-61-2094-01	TCGA-61-2094-11	g.chr6:150343305C>T	ENST00000367341.1	-	2	159	c.160G>A	c.(160-162)Ggc>Agc	p.G54S	RAET1L_ENST00000286380.2_Missense_Mutation_p.G54S			Q5VY80	RET1L_HUMAN	retinoic acid early transcript 1L	54	MHC class I alpha-1 like. {ECO:0000250}.				antigen processing and presentation (GO:0019882)|immune response (GO:0006955)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)		p.G54S(1)		endometrium(1)|large_intestine(1)|lung(1)|ovary(1)|skin(1)	5		Ovarian(120;0.028)	BRCA - Breast invasive adenocarcinoma(37;0.193)	OV - Ovarian serous cystadenocarcinoma(155;2.4e-12)		TCCACCTGGCCTTGAACCGCA	0.522																																																1	Substitution - Missense(1)	ovary(1)	6											50.0	45.0	46.0					6																	150343305		1842	3612	5454	150384998	SO:0001583	missense	154064			AY039682	CCDS5224.1	6q24.1-25.1	2008-02-05			ENSG00000155918	ENSG00000155918			16798	protein-coding gene	gene with protein product		611047				11827464	Standard	NM_130900		Approved		uc011eei.2	Q5VY80	OTTHUMG00000015809	ENST00000367341.1:c.160G>A	6.37:g.150343305C>T	ENSP00000356310:p.Gly54Ser	Unknown		x	x	x	150384998	A3KME4|Q8TE74	Missense_Mutation	SNP	ENST00000367341.1	37	CCDS5224.1	SNP	24	Broad	.	.	.	.	.	.	.	.	.	.	c	13.56	2.273530	0.40194	.	.	ENSG00000155918	ENST00000367341;ENST00000286380	T;T	0.01406	4.93;4.93	1.91	1.91	0.25777	MHC class I, alpha chain, alpha1/alpha2 (1);MHC classes I/II-like antigen recognition protein (1);MHC class I-like antigen recognition (1);	.	.	.	.	T	0.01421	0.0046	L	0.50333	1.59	0.09310	N	1	D	0.59767	0.986	P	0.56612	0.802	T	0.53201	-0.8472	9	0.56958	D	0.05	.	7.2975	0.26401	0.0:1.0:0.0:0.0	.	54	Q5VY80	RET1L_HUMAN	S	54	ENSP00000356310:G54S;ENSP00000286380:G54S	ENSP00000286380:G54S	G	-	1	0	RAET1L	150384998	0.004000	0.15560	0.166000	0.22797	0.041000	0.13682	0.961000	0.29267	1.377000	0.46286	0.491000	0.48974	GGC		0.522	RAET1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042676.1	NM_130900		Missense_Mutation
AUTS2	26053	broad.mit.edu	37	7	70255188	70255188	+	Missense_Mutation	SNP	G	G	A			TCGA-61-2094-01	TCGA-61-2094-11							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-61-2094-01	TCGA-61-2094-11	g.chr7:70255188G>A	ENST00000342771.4	+	19	3307	c.2986G>A	c.(2986-2988)Gcc>Acc	p.A996T	AUTS2_ENST00000406775.2_Missense_Mutation_p.A972T	NM_015570.2	NP_056385.1	Q8WXX7	AUTS2_HUMAN	autism susceptibility candidate 2	996								p.A996T(1)		breast(2)|central_nervous_system(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(14)|ovary(4)|prostate(2)|skin(4)|urinary_tract(1)	50		all_cancers(73;0.0264)|all_epithelial(88;0.0198)|Lung NSC(55;0.0599)|all_lung(88;0.093)		LUSC - Lung squamous cell carcinoma(90;0.082)|Lung(90;0.186)		GCCTCCAGAGGCCCCGCAGAC	0.697																																																1	Substitution - Missense(1)	ovary(1)	7											20.0	19.0	20.0					7																	70255188		2181	4261	6442	69893124	SO:0001583	missense	26053			AF326917	CCDS5539.1, CCDS47601.1, CCDS47602.1	7q11.22	2014-01-06			ENSG00000158321	ENSG00000158321			14262	protein-coding gene	gene with protein product		607270				12160723	Standard	XM_005250257		Approved	KIAA0442, FBRSL2	uc003tvw.4	Q8WXX7	OTTHUMG00000023865	ENST00000342771.4:c.2986G>A	7.37:g.70255188G>A	ENSP00000344087:p.Ala996Thr	Unknown		x	x	x	69893124	A4D1Y9|L7QET3|L7QF75|Q5D049|Q6PJU5|Q9Y4F2	Missense_Mutation	SNP	ENST00000342771.4	37	CCDS5539.1	SNP	42	Broad	.	.	.	.	.	.	.	.	.	.	G	17.13	3.310938	0.60414	.	.	ENSG00000158321	ENST00000406775;ENST00000342771	T;T	0.31247	1.5;1.51	4.63	4.63	0.57726	.	0.275117	0.29846	N	0.011041	T	0.27241	0.0668	N	0.19112	0.55	0.80722	D	1	P;P;P	0.51933	0.493;0.949;0.949	B;P;P	0.49085	0.203;0.6;0.6	T	0.02352	-1.1172	9	.	.	.	-20.6799	14.0545	0.64759	0.0:0.1517:0.8483:0.0	.	448;972;996	B4DLG0;Q8WXX7-2;Q8WXX7	.;.;AUTS2_HUMAN	T	972;996	ENSP00000385263:A972T;ENSP00000344087:A996T	.	A	+	1	0	AUTS2	69893124	1.000000	0.71417	0.975000	0.42487	0.675000	0.39556	4.109000	0.57824	2.119000	0.64992	0.655000	0.94253	GCC		0.697	AUTS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251971.2			Missense_Mutation
TEX15	56154	broad.mit.edu	37	8	30701009	30701009	+	Missense_Mutation	SNP	G	G	C			TCGA-61-2094-01	TCGA-61-2094-11							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-61-2094-01	TCGA-61-2094-11	g.chr8:30701009G>C	ENST00000256246.2	-	1	5599	c.5525C>G	c.(5524-5526)tCt>tGt	p.S1842C		NM_031271.3	NP_112561.2	Q9BXT5	TEX15_HUMAN	testis expressed 15	1842					fertilization (GO:0009566)|homeostasis of number of cells within a tissue (GO:0048873)|male genitalia development (GO:0030539)|male meiosis (GO:0007140)|protein localization to chromosome (GO:0034502)|regulation of double-strand break repair via homologous recombination (GO:0010569)|regulation of protein localization (GO:0032880)|spermatogenesis (GO:0007283)|synaptonemal complex assembly (GO:0007130)			p.S1842C(1)		NS(2)|breast(3)|cervix(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(38)|lung(56)|ovary(5)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(5)|urinary_tract(1)	138				KIRC - Kidney renal clear cell carcinoma(542;0.0918)|Kidney(114;0.111)		AACTTTAGGAGAGTCCCCACA	0.358																																																1	Substitution - Missense(1)	ovary(1)	8											84.0	87.0	86.0					8																	30701009		2203	4299	6502	30820551	SO:0001583	missense	56154			AF285605	CCDS6080.1	8p22	2009-03-25	2007-03-13			ENSG00000133863			11738	protein-coding gene	gene with protein product	"""cancer/testis antigen 42"""	605795	"""testis expressed sequence 15"""			11279525	Standard	NM_031271		Approved	CT42	uc003xil.3	Q9BXT5		ENST00000256246.2:c.5525C>G	8.37:g.30701009G>C	ENSP00000256246:p.Ser1842Cys	Unknown		x	x	x	30820551		Missense_Mutation	SNP	ENST00000256246.2	37	CCDS6080.1	SNP	33	Broad	.	.	.	.	.	.	.	.	.	.	G	9.209	1.030558	0.19512	.	.	ENSG00000133863	ENST00000256246	T	0.11495	2.77	5.68	2.42	0.29668	.	0.694331	0.13117	N	0.412558	T	0.10121	0.0248	L	0.56769	1.78	0.09310	N	1	B	0.21071	0.051	B	0.19391	0.025	T	0.39522	-0.9610	10	0.87932	D	0	.	0.6208	0.00778	0.1935:0.2367:0.3301:0.2397	.	1842	Q9BXT5	TEX15_HUMAN	C	1842	ENSP00000256246:S1842C	ENSP00000256246:S1842C	S	-	2	0	TEX15	30820551	0.063000	0.20901	0.022000	0.16811	0.600000	0.36913	0.532000	0.23067	0.717000	0.32145	0.650000	0.86243	TCT		0.358	TEX15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376193.1			Missense_Mutation
DCSTAMP	81501	broad.mit.edu	37	8	105361543	105361543	+	Missense_Mutation	SNP	G	G	C			TCGA-61-2094-01	TCGA-61-2094-11							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-61-2094-01	TCGA-61-2094-11	g.chr8:105361543G>C	ENST00000297581.2	+	2	812	c.763G>C	c.(763-765)Gat>Cat	p.D255H	DCSTAMP_ENST00000517991.1_Missense_Mutation_p.D255H|DPYS_ENST00000521601.1_Intron	NM_030788.3	NP_110415.1	Q9H295	DCSTP_HUMAN	dendrocyte expressed seven transmembrane protein	255					cellular response to interleukin-4 (GO:0071353)|cellular response to macrophage colony-stimulating factor stimulus (GO:0036006)|cellular response to tumor necrosis factor (GO:0071356)|membrane fusion (GO:0061025)|myeloid dendritic cell differentiation (GO:0043011)|negative regulation of cell growth (GO:0030308)|osteoclast differentiation (GO:0030316)|osteoclast fusion (GO:0072675)|positive regulation of bone resorption (GO:0045780)|positive regulation of macrophage fusion (GO:0034241)|positive regulation of monocyte differentiation (GO:0045657)	cell surface (GO:0009986)|endoplasmic reticulum membrane (GO:0005789)|endosome membrane (GO:0010008)|integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)		p.D255H(1)									TGTTCAGTTTGATGAAAGGGA	0.488																																																1	Substitution - Missense(1)	ovary(1)	8											96.0	94.0	95.0					8																	105361543		2203	4300	6503	105430719	SO:0001583	missense	81501			AF305068	CCDS6301.1, CCDS59111.1	8q22.3	2012-08-10	2012-03-27	2012-03-27	ENSG00000164935	ENSG00000164935			18549	protein-coding gene	gene with protein product	"""Dendritic cells (DC)-specific transmembrane protein"", ""IL-Four INDuced"""	605933	"""transmembrane 7 superfamily member 4"""	TM7SF4		11169400, 11345591	Standard	NM_030788		Approved	DC-STAMP, FIND	uc003ylx.2	Q9H295	OTTHUMG00000164890	ENST00000297581.2:c.763G>C	8.37:g.105361543G>C	ENSP00000297581:p.Asp255His	Unknown		x	x	x	105430719	B7ZVW2|E7ESG0|Q2M2D5	Missense_Mutation	SNP	ENST00000297581.2	37	CCDS6301.1	SNP	45	Broad	.	.	.	.	.	.	.	.	.	.	G	16.90	3.251005	0.59212	.	.	ENSG00000164935	ENST00000297581;ENST00000517991	T;T	0.44083	0.93;0.93	5.5	5.5	0.81552	Dendritic cell-specific transmembrane protein-like (1);	0.048602	0.85682	D	0.000000	T	0.64638	0.2616	M	0.81239	2.535	0.58432	D	0.999991	D	0.89917	1.0	D	0.85130	0.997	T	0.66795	-0.5833	9	.	.	.	-15.8533	11.9661	0.53035	0.0795:0.0:0.9205:0.0	.	255	Q9H295	TM7S4_HUMAN	H	255	ENSP00000297581:D255H;ENSP00000428869:D255H	.	D	+	1	0	TM7SF4	105430719	1.000000	0.71417	0.693000	0.30195	0.651000	0.38670	6.373000	0.73128	2.590000	0.87494	0.555000	0.69702	GAT		0.488	DCSTAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380810.1	NM_030788		Missense_Mutation
ANGPT1	284	broad.mit.edu	37	8	108348443	108348443	+	5'UTR	SNP	G	G	T			TCGA-61-2094-01	TCGA-61-2094-11							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-61-2094-01	TCGA-61-2094-11	g.chr8:108348443G>T	ENST00000520734.1	-	0	195				ANGPT1_ENST00000520052.1_5'UTR			Q15389	ANGP1_HUMAN	angiopoietin 1						activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cell-substrate adhesion (GO:0031589)|glomerulus vasculature development (GO:0072012)|hemopoiesis (GO:0030097)|heparin biosynthetic process (GO:0030210)|in utero embryonic development (GO:0001701)|leukocyte migration (GO:0050900)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell adhesion (GO:0007162)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of vascular permeability (GO:0043116)|positive chemotaxis (GO:0050918)|positive regulation of blood vessel endothelial cell migration (GO:0043536)|positive regulation of cell adhesion (GO:0045785)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of receptor internalization (GO:0002092)|protein localization to cell surface (GO:0034394)|regulation of satellite cell proliferation (GO:0014842)|sprouting angiogenesis (GO:0002040)|Tie signaling pathway (GO:0048014)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane raft (GO:0045121)|microvillus (GO:0005902)|plasma membrane (GO:0005886)	receptor tyrosine kinase binding (GO:0030971)	p.T170T(2)		NS(1)|breast(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(13)|ovary(4)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)	43	Breast(1;5.06e-08)		OV - Ovarian serous cystadenocarcinoma(57;5.53e-09)			CTAGCTTGTAGGTGGATAATG	0.343																																																2	Substitution - coding silent(2)	ovary(1)|lung(1)	8											111.0	102.0	105.0					8																	108348443		2203	4300	6503	108417619	SO:0001623	5_prime_UTR_variant	284			D13628	CCDS6306.1, CCDS56551.1	8q23.1	2013-02-06			ENSG00000154188	ENSG00000154188		"""Fibrinogen C domain containing"""	484	protein-coding gene	gene with protein product		601667				9545648	Standard	NM_001146		Approved	KIAA0003, Ang1	uc003ymn.3	Q15389	OTTHUMG00000164812	ENST00000520734.1:c.-91C>A	8.37:g.108348443G>T		Unknown		x	x	x	108417619	Q5HYA0	Silent	SNP	ENST00000520734.1	37		SNP	35	Broad																																																																																				0.343	ANGPT1-002	PUTATIVE	alternative_5_UTR|basic	protein_coding	protein_coding	OTTHUMT00000380428.2	NM_001146, NM_139290		Silent
FAM135B	51059	broad.mit.edu	37	8	139145004	139145004	+	Silent	SNP	G	G	T			TCGA-61-2094-01	TCGA-61-2094-11							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-61-2094-01	TCGA-61-2094-11	g.chr8:139145004G>T	ENST00000395297.1	-	20	4223	c.4053C>A	c.(4051-4053)ggC>ggA	p.G1351G		NM_015912.3	NP_056996.2	Q49AJ0	F135B_HUMAN	family with sequence similarity 135, member B	1351								p.G1351G(2)		NS(3)|breast(9)|endometrium(21)|kidney(5)|large_intestine(28)|liver(1)|lung(135)|ovary(9)|pancreas(1)|prostate(7)|skin(9)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	238	all_epithelial(106;8.29e-14)|Lung NSC(106;6.88e-06)|all_lung(105;1.44e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0805)			CAACCAGAGGGCCCAGGAGGT	0.527										HNSCC(54;0.14)																																						2	Substitution - coding silent(2)	ovary(2)	8											197.0	205.0	202.0					8																	139145004		1977	4147	6124	139214186	SO:0001819	synonymous_variant	51059			AB196635	CCDS6375.2	8q24.23	2008-11-05			ENSG00000147724	ENSG00000147724			28029	protein-coding gene	gene with protein product						8619474, 9110174	Standard	NM_015912		Approved	C8ORFK32	uc003yuy.3	Q49AJ0	OTTHUMG00000149864	ENST00000395297.1:c.4053C>A	8.37:g.139145004G>T		Unknown		x	x	x	139214186	B5MDB3|O95879|Q2WGJ7|Q3KP46	Silent	SNP	ENST00000395297.1	37	CCDS6375.2	SNP	42	Broad																																																																																				0.527	FAM135B-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313590.3	NM_015912		Silent
IFNW1	3467	broad.mit.edu	37	9	21141017	21141017	+	Silent	SNP	G	G	A			TCGA-61-2094-01	TCGA-61-2094-11							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-61-2094-01	TCGA-61-2094-11	g.chr9:21141017G>A	ENST00000380229.2	-	1	1127	c.553C>T	c.(553-555)Ctg>Ttg	p.L185L		NM_002177.1	NP_002168.1	P05000	IFNW1_HUMAN	interferon, omega 1	185					adaptive immune response (GO:0002250)|B cell differentiation (GO:0030183)|B cell proliferation (GO:0042100)|cell cycle arrest (GO:0007050)|cytokine-mediated signaling pathway (GO:0019221)|defense response to virus (GO:0051607)|humoral immune response (GO:0006959)|innate immune response (GO:0045087)|natural killer cell activation involved in immune response (GO:0002323)|positive regulation of peptidyl-serine phosphorylation of STAT protein (GO:0033141)|regulation of MHC class I biosynthetic process (GO:0045343)|response to exogenous dsRNA (GO:0043330)|response to virus (GO:0009615)|T cell activation involved in immune response (GO:0002286)	extracellular space (GO:0005615)	cytokine activity (GO:0005125)|cytokine receptor binding (GO:0005126)|type I interferon receptor binding (GO:0005132)	p.L185L(1)		endometrium(1)|kidney(1)|lung(2)|ovary(1)	5				GBM - Glioblastoma multiforme(5;2.35e-185)|Lung(24;2.24e-22)|LUSC - Lung squamous cell carcinoma(38;1.4e-13)		TTACTTCTCAGTCTTTCTTGC	0.378																																																1	Substitution - coding silent(1)	ovary(1)	9											122.0	110.0	114.0					9																	21141017		2203	4300	6503	21131017	SO:0001819	synonymous_variant	3467				CCDS6496.1	9p22	2010-12-10			ENSG00000177047	ENSG00000177047		"""Interferons"""	5448	protein-coding gene	gene with protein product	"""IFN-omega 1, interferon omega-1"""	147553				1385305	Standard	NM_002177		Approved		uc003zol.1	P05000	OTTHUMG00000019656	ENST00000380229.2:c.553C>T	9.37:g.21141017G>A		Unknown		x	x	x	21131017	Q13168|Q5U802|Q5VWD0|Q7M4P5	Silent	SNP	ENST00000380229.2	37	CCDS6496.1	SNP	36	Broad																																																																																				0.378	IFNW1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051885.1	NM_002177		Silent
FAM47C	442444	broad.mit.edu	37	X	37028667	37028667	+	Silent	SNP	G	G	A	rs149639130		TCGA-61-2094-01	TCGA-61-2094-11							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-61-2094-01	TCGA-61-2094-11	g.chrX:37028667G>A	ENST00000358047.3	+	1	2236	c.2184G>A	c.(2182-2184)ccG>ccA	p.P728P		NM_001013736.2	NP_001013758.1	Q5HY64	FA47C_HUMAN	family with sequence similarity 47, member C	728								p.P728P(1)		breast(4)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|lung(63)|ovary(6)|pancreas(1)|prostate(6)|skin(8)|upper_aerodigestive_tract(4)|urinary_tract(1)	120						ATCTCTGCCCGGAGCCTCCTG	0.627													g|||	2	0.000529801	0.0015	0.0	3775	,	,		11277	0.0		0.0	False		,,,				2504	0.0															1	Substitution - coding silent(1)	ovary(1)	X						G		2,3831		0,2,1629,571	48.0	46.0	47.0		2184	-0.6	0.0	X	dbSNP_134	47	0,6728		0,0,2428,1872	no	coding-synonymous	FAM47C	NM_001013736.2		0,2,4057,2443	AA,AG,GG,G		0.0,0.0522,0.0189		728/1036	37028667	2,10559	2202	4300	6502	36938588	SO:0001819	synonymous_variant	442444			AK125992	CCDS35227.1	Xp21.1	2006-07-04			ENSG00000198173	ENSG00000198173			25301	protein-coding gene	gene with protein product							Standard	NM_001013736		Approved		uc004ddl.2	Q5HY64	OTTHUMG00000024025	ENST00000358047.3:c.2184G>A	X.37:g.37028667G>A		Unknown		x	x	x	36938588	Q6ZU46	Silent	SNP	ENST00000358047.3	37	CCDS35227.1	SNP	39	Broad																																																																																				0.627	FAM47C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060508.1	NM_001013736		Silent
CAPN6	827	broad.mit.edu	37	X	110507056	110507056	+	Missense_Mutation	SNP	C	C	G			TCGA-61-2094-01	TCGA-61-2094-11							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-61-2094-01	TCGA-61-2094-11	g.chrX:110507056C>G	ENST00000324068.1	-	2	276	c.109G>C	c.(109-111)Gat>Cat	p.D37H	CAPN6_ENST00000541758.1_5'UTR	NM_014289.3	NP_055104.2	Q9Y6Q1	CAN6_HUMAN	calpain 6	37	Calpain catalytic. {ECO:0000255|PROSITE- ProRule:PRU00239}.				microtubule bundle formation (GO:0001578)|proteolysis (GO:0006508)|regulation of cytoskeleton organization (GO:0051493)	perinuclear region of cytoplasm (GO:0048471)|spindle microtubule (GO:0005876)	calcium-dependent cysteine-type endopeptidase activity (GO:0004198)|microtubule binding (GO:0008017)	p.D37H(1)		cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(25)|ovary(3)|skin(3)|upper_aerodigestive_tract(1)	47						AAAAGAGAATCATTCTCAGGC	0.433																																																1	Substitution - Missense(1)	ovary(1)	X											191.0	164.0	173.0					X																	110507056		2203	4300	6503	110393712	SO:0001583	missense	827			AF029232	CCDS14555.1	Xq23	2008-07-29			ENSG00000077274	ENSG00000077274			1483	protein-coding gene	gene with protein product		300146				9503024, 9339374	Standard	NM_014289		Approved	CAPNX, CalpM, CANPX	uc004epc.2	Q9Y6Q1	OTTHUMG00000022203	ENST00000324068.1:c.109G>C	X.37:g.110507056C>G	ENSP00000317214:p.Asp37His	Unknown		x	x	x	110393712	D3DUY7|Q9UEQ1|Q9UJA8	Missense_Mutation	SNP	ENST00000324068.1	37	CCDS14555.1	SNP	29	Broad	.	.	.	.	.	.	.	.	.	.	C	20.5	3.997527	0.74818	.	.	ENSG00000077274	ENST00000324068	D	0.87650	-2.28	5.78	5.78	0.91487	Peptidase C2, calpain, catalytic domain (3);	0.339438	0.32819	N	0.005616	D	0.90978	0.7163	L	0.49513	1.565	0.80722	D	1	D	0.64830	0.994	D	0.66196	0.942	D	0.91142	0.4946	10	0.54805	T	0.06	.	15.7781	0.78240	0.0:1.0:0.0:0.0	.	37	Q9Y6Q1	CAN6_HUMAN	H	37	ENSP00000317214:D37H	ENSP00000317214:D37H	D	-	1	0	CAPN6	110393712	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.046000	0.64226	2.439000	0.82584	0.544000	0.68410	GAT		0.433	CAPN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057922.1			Missense_Mutation
DMKN	93099	broad.mit.edu	37	19	36002362	36002412	+	In_Frame_Del	DEL	CTGCTGCCACCACTGCTGCCGCCACTGCTGCCGCCACTGCTGCTGCCACTG	CTGCTGCCACCACTGCTGCCGCCACTGCTGCCGCCACTGCTGCTGCCACTG	-	rs112672248|rs142519211|rs144877871|rs544198244|rs199498909|rs11667007|rs12981076|rs146822312|rs148799704|rs138902616|rs56743379|rs140071083|rs371511253|rs117522133|rs59309505|rs113540509|rs111543270|rs58579970|rs201369392	byFrequency	TCGA-61-2094-01	TCGA-61-2094-11							Unknown	Unknown	Somatic	Phase_I	WXS	---			Illumina GAIIx	TCGA-61-2094-01	TCGA-61-2094-11	g.chr19:36002362_36002412delCTGCTGCCACCACTGCTGCCGCCACTGCTGCCGCCACTGCTGCTGCCACTG	ENST00000339686.3	-	5	995_1045	c.819_869delCAGTGGCAGCAGCAGTGGCGGCAGCAGTGGCGGCAGCAGTGGTGGCAGCAG	c.(817-870)agcagtggcagcagcagtggcggcagcagtggcggcagcagtggtggcagcagt>agt	p.273_290SSGSSSGGSSGGSSGGSS>S	DMKN_ENST00000414866.2_5'Flank|DMKN_ENST00000462126.1_5'Flank|DMKN_ENST00000436012.1_5'Flank|DMKN_ENST00000392206.2_5'Flank|DMKN_ENST00000602781.1_5'Flank|DMKN_ENST00000429837.1_Intron|DMKN_ENST00000458071.1_5'Flank|DMKN_ENST00000474928.1_5'Flank|DMKN_ENST00000418261.1_In_Frame_Del_p.273_290SSGSSSGGSSGGSSGGSS>S|DMKN_ENST00000467637.1_5'Flank|DMKN_ENST00000443640.1_5'Flank|DMKN_ENST00000419602.1_Intron|DMKN_ENST00000492341.2_5'Flank|DMKN_ENST00000480502.1_5'Flank|DMKN_ENST00000488892.1_5'Flank|DMKN_ENST00000424570.2_In_Frame_Del_p.273_290SSGSSSGGSSGGSSGGSS>S|DMKN_ENST00000451297.2_In_Frame_Del_p.273_290SSGSSSGGSSGGSSGGSS>S|DMKN_ENST00000440396.1_In_Frame_Del_p.273_290SSGSSSGGSSGGSSGGSS>S|DMKN_ENST00000461300.1_5'Flank|DMKN_ENST00000447113.2_In_Frame_Del_p.273_290SSGSSSGGSSGGSSGGSS>S|DMKN_ENST00000472252.2_5'Flank|DMKN_ENST00000402589.2_5'Flank	NM_033317.4	NP_201574	Q6E0U4	DMKN_HUMAN	dermokine	273	Gly-rich.		G -> S (in dbSNP:rs11667007). {ECO:0000269|PubMed:17380110}.	G -> GSSSG (in Ref. 4; AAQ88778). {ECO:0000305}.		extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)		p.S274_S290del(1)		NS(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|lung(7)|ovary(1)|prostate(1)|skin(2)	27	all_lung(56;1.89e-08)|Lung NSC(56;2.9e-08)|Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.0724)			actgttgccactgctgccaccactgctgccgccactgctgccgccactgctgctgccactgctgctgccac	0.641																																																1	Deletion - In frame(1)	ovary(1)	19							,,,,,,	1051,3093		133,785,1154					,,,,,,	-3.2	0.0		dbSNP_130	28	1360,6640		184,992,2824	no	coding,coding,coding,intron,coding,coding,intron	DMKN	NM_033317.4,NM_001190349.1,NM_001190348.1,NM_001190347.1,NM_001126058.2,NM_001126057.2,NM_001126056.2	,,,,,,	317,1777,3978	A1A1,A1R,RR		17.0,25.362,19.8534	,,,,,,	,,,,,,		2411,9733				40694252	SO:0001651	inframe_deletion	93099			BC035311	CCDS12463.1, CCDS42549.1, CCDS46051.1, CCDS46052.1, CCDS46053.1, CCDS46054.1, CCDS46054.2, CCDS54250.1, CCDS54251.1, CCDS54252.1	19q13.12	2008-10-27			ENSG00000161249	ENSG00000161249			25063	protein-coding gene	gene with protein product						16374476	Standard	NM_001035516		Approved	ZD52F10	uc002nzm.4	Q6E0U4	OTTHUMG00000048101	ENST00000339686.3:c.819_869delCAGTGGCAGCAGCAGTGGCGGCAGCAGTGGCGGCAGCAGTGGTGGCAGCAG	19.37:g.36002362_36002412delCTGCTGCCACCACTGCTGCCGCCACTGCTGCCGCCACTGCTGCTGCCACTG	ENSP00000342012:p.Ser273_Ser289del	Unknown		Capture	Illumina GAIIx	Phase_I	40694202	A3EZ79|A3EZ80|A3EZ81|A3EZ82|A3EZ83|C9J4P6|C9J5N8|C9JAL3|Q32W58|Q32W62|Q32W63|Q32W64|Q32W65|Q32W66|Q32W67|Q6E0U5|Q6UXC7|Q96EW8|Q9BSY6	In_Frame_Del	DEL	ENST00000339686.3	37	CCDS12463.1	DEL	20	Broad																																																																																				0.641	DMKN-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000109461.2	NM_033317		In_Frame_Del
