#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_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	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_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	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_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
TRGV4	6977	broad.mit.edu	37	7	38393489	38393489	+	RNA	SNP	C	C	T			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr7:38393489C>T	ENST00000390345.2	-	0	514									T cell receptor gamma variable 4																		CGCTGTGGGGCCTTCCCCTCC	0.512																																						ENST00000390345.2																			0																				101.0	91.0	94.0					7																	38393489		1850	3912	5762			0							g.chr7:38393489C>T	X15272		7p14	2013-12-13			ENSG00000211698	ENSG00000211698		"""T cell receptors / TRG locus"""	12289	other	T cell receptor gene	"""T-cell receptor, gamma, variable region V4"""			TCRGV4		2969332	Standard	NG_001336		Approved	V1S4			OTTHUMG00000155099		7.37:g.38393489C>T														0	514	-									RNA	SNP	ENST00000390345.2	37																																																																																						0.512	TRGV4-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000338400.4	NG_001336		9	157	0	0	0	0.307466	0	9	157				
DLC1	10395	broad.mit.edu	37	8	12946019	12946019	+	Silent	SNP	A	A	C			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr8:12946019A>C	ENST00000276297.4	-	16	4678	c.4269T>G	c.(4267-4269)ccT>ccG	p.P1423P	DLC1_ENST00000510318.1_5'UTR|DLC1_ENST00000512044.2_Silent_p.P1020P|DLC1_ENST00000358919.2_Silent_p.P986P|DLC1_ENST00000520226.1_Silent_p.P912P	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN	DLC1 Rho GTPase activating protein	1423	START. {ECO:0000255|PROSITE- ProRule:PRU00197}.				actin cytoskeleton organization (GO:0030036)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|focal adhesion assembly (GO:0048041)|forebrain development (GO:0030900)|heart morphogenesis (GO:0003007)|hindbrain morphogenesis (GO:0021575)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neural tube closure (GO:0001843)|positive regulation of execution phase of apoptosis (GO:1900119)|positive regulation of protein dephosphorylation (GO:0035307)|positive regulation of Rho GTPase activity (GO:0032321)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell shape (GO:0008360)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|nucleus (GO:0005634)	lipid binding (GO:0008289)|Rho GTPase activator activity (GO:0005100)|SH2 domain binding (GO:0042169)			NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						AGTCTCGAGCAGGATGAGGTG	0.423																																						ENST00000276297.4																			0				NS(2)|breast(2)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(39)|lung(32)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	110						c.(4267-4269)ccT>ccG		deleted in liver cancer 1							138.0	125.0	130.0					8																	12946019		2203	4300	6503	SO:0001819	synonymous_variant	10395				actin cytoskeleton organization|activation of caspase activity|focal adhesion assembly|forebrain development|heart morphogenesis|hindbrain morphogenesis|induction of apoptosis|negative regulation of cell migration|negative regulation of cell proliferation|negative regulation of Rho protein signal transduction|negative regulation of stress fiber assembly|neural tube closure|positive regulation of protein dephosphorylation|regulation of cell shape|small GTPase mediated signal transduction	caveola|cytosol|focal adhesion|nucleus	Rho GTPase activator activity|SH2 domain binding	g.chr8:12946019A>C	AF035119	CCDS5989.1, CCDS5990.1, CCDS5991.1, CCDS5991.2, CCDS55201.1	8p22	2014-06-20	2014-06-20		ENSG00000164741	ENSG00000164741		"""Rho GTPase activating proteins"", ""StAR-related lipid transfer (START) domain containing"""	2897	protein-coding gene	gene with protein product	"""StAR-related lipid transfer (START) domain containing 12"""	604258	"""deleted in liver cancer 1"""			9605766, 11214970	Standard	NM_182643		Approved	HP, ARHGAP7, STARD12, DLC-1, p122-RhoGAP	uc003wwm.2	Q96QB1	OTTHUMG00000090825	ENST00000276297.4:c.4269T>G	8.37:g.12946019A>C						DLC1_ENST00000510318.1_5'UTR|DLC1_ENST00000512044.2_Silent_p.P1020P|DLC1_ENST00000520226.1_Silent_p.P912P|DLC1_ENST00000358919.2_Silent_p.P986P	p.P1423P	NM_182643.2	NP_872584.2	Q96QB1	RHG07_HUMAN			16	4678	-			1423			START.		B4DR10|B8PTI0|E9PDZ8|E9PF76|E9PGY9|O14868|O43199|Q7Z5R8|Q86UC6|Q9C0E0|Q9H7A2	Silent	SNP	ENST00000276297.4	37	c.4269T>G	CCDS5989.1																																																																																				0.423	DLC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207632.2	NM_182643, NM_006094		18	93	0	0	0	0.539581	0	18	93				
UNC5D	137970	broad.mit.edu	37	8	35406823	35406823	+	Silent	SNP	C	C	T			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr8:35406823C>T	ENST00000404895.2	+	2	445	c.117C>T	c.(115-117)ggC>ggT	p.G39G	UNC5D_ENST00000453357.2_Silent_p.G34G|UNC5D_ENST00000420357.1_Silent_p.G39G|UNC5D_ENST00000416672.1_Silent_p.G39G|UNC5D_ENST00000287272.2_Silent_p.G39G	NM_080872.2	NP_543148.2	Q6UXZ4	UNC5D_HUMAN	unc-5 homolog D (C. elegans)	39					apoptotic process (GO:0006915)|axon guidance (GO:0007411)|pyramidal neuron differentiation (GO:0021859)|regulation of neuron migration (GO:2001222)|signal transduction (GO:0007165)	cell surface (GO:0009986)|integral component of membrane (GO:0016021)		p.G34G(1)		NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112				READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)		CTGACAATGGCGAAGCCCTTC	0.468																																						ENST00000287272.2																			1	Substitution - coding silent(1)	p.G34G(1)	large_intestine(1)	NS(2)|breast(7)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(14)|lung(56)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(6)|urinary_tract(2)	112						c.(115-117)ggC>ggT		unc-5 homolog D (C. elegans)							56.0	55.0	55.0					8																	35406823		2203	4300	6503	SO:0001819	synonymous_variant	137970				apoptosis|axon guidance	integral to membrane	receptor activity	g.chr8:35406823C>T	AB055056	CCDS6093.2	8p12	2013-01-11			ENSG00000156687	ENSG00000156687		"""Immunoglobulin superfamily / I-set domain containing"""	18634	protein-coding gene	gene with protein product						18402767	Standard	NM_080872		Approved	KIAA1777, Unc5h4	uc003xjr.2	Q6UXZ4	OTTHUMG00000157145	ENST00000404895.2:c.117C>T	8.37:g.35406823C>T						UNC5D_ENST00000416672.1_Silent_p.G39G|UNC5D_ENST00000453357.2_Silent_p.G34G|UNC5D_ENST00000420357.1_Silent_p.G39G|UNC5D_ENST00000404895.2_Silent_p.G39G	p.G39G			Q6UXZ4	UNC5D_HUMAN		READ - Rectum adenocarcinoma(1;1.31e-05)|Colorectal(1;0.000723)	2	137	+			39					Q8WYP7	Silent	SNP	ENST00000404895.2	37	c.117C>T	CCDS6093.2																																																																																				0.468	UNC5D-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000347586.2			24	47	0	0	0	0.667858	0	24	47				
BTRC	8945	broad.mit.edu	37	10	103281443	103281443	+	Silent	SNP	G	G	A			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr10:103281443G>A	ENST00000370187.3	+	5	490	c.372G>A	c.(370-372)cgG>cgA	p.R124R	BTRC_ENST00000393441.4_Silent_p.R83R|BTRC_ENST00000408038.2_Silent_p.R88R	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN	beta-transducin repeat containing E3 ubiquitin protein ligase	124					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|branching involved in mammary gland duct morphogenesis (GO:0060444)|cellular response to organic cyclic compound (GO:0071407)|G2/M transition of mitotic cell cycle (GO:0000086)|mammary gland epithelial cell proliferation (GO:0033598)|mitotic cell cycle (GO:0000278)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of circadian rhythm (GO:0042753)|positive regulation of proteolysis (GO:0045862)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein dephosphorylation (GO:0006470)|protein destabilization (GO:0031648)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|regulation of cell cycle (GO:0051726)|regulation of circadian rhythm (GO:0042752)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of proteasomal protein catabolic process (GO:0061136)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|rhythmic process (GO:0048511)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|signal transduction (GO:0007165)|ubiquitin-dependent protein catabolic process (GO:0006511)|viral process (GO:0016032)|Wnt signaling pathway (GO:0016055)	cytosol (GO:0005829)|nucleus (GO:0005634)|SCF ubiquitin ligase complex (GO:0019005)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)			endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27		Colorectal(252;0.234)		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)		CCAAGCAACGGAAACTCTCAG	0.388																																						ENST00000370187.3																			0				endometrium(4)|kidney(2)|large_intestine(6)|lung(11)|ovary(2)|stomach(1)|urinary_tract(1)	27						c.(370-372)cgG>cgA		beta-transducin repeat containing E3 ubiquitin protein ligase							100.0	92.0	95.0					10																	103281443		2203	4300	6503	SO:0001819	synonymous_variant	8945				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|interspecies interaction between organisms|negative regulation of transcription, DNA-dependent|positive regulation of proteolysis|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein destabilization|viral reproduction|Wnt receptor signaling pathway	cytosol|nucleus|SCF ubiquitin ligase complex		g.chr10:103281443G>A	Y14153	CCDS7511.1, CCDS7512.1, CCDS73183.1	10q24.32	2013-01-10	2012-02-23		ENSG00000166167	ENSG00000166167		"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	1144	protein-coding gene	gene with protein product		603482	"""beta-transducin repeat containing"""			9660940, 10331953, 18354483	Standard	NM_033637		Approved	bTrCP, betaTrCP, FBXW1A, Fwd1, beta-TrCP1, bTrCP1	uc001kta.4	Q9Y297	OTTHUMG00000018932	ENST00000370187.3:c.372G>A	10.37:g.103281443G>A						BTRC_ENST00000408038.2_Silent_p.R88R|BTRC_ENST00000393441.4_Silent_p.R83R	p.R124R	NM_033637.3	NP_378663.1	Q9Y297	FBW1A_HUMAN		Epithelial(162;1.05e-08)|all cancers(201;6.59e-07)	5	490	+		Colorectal(252;0.234)	124					B5MD49|Q5W141|Q5W142|Q9Y213	Silent	SNP	ENST00000370187.3	37	c.372G>A	CCDS7512.1																																																																																				0.388	BTRC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000049936.1	NM_033637		5	64	0	0	0	0.217242	0	5	64				
CROCCP2	84809	broad.mit.edu	37	1	16946434	16946434	+	lincRNA	SNP	C	C	T	rs367060	byFrequency	TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr1:16946434C>T	ENST00000412962.1	-	0	1085				RP5-1182A14.5_ENST00000607700.1_lincRNA			Q86T23	CROL1_HUMAN	ciliary rootlet coiled-coil, rootletin pseudogene 2						centrosome organization (GO:0051297)	ciliary rootlet (GO:0035253)											CTCAGCCTTCCGCCGGGCCAG	0.672													.|||	253	0.0505192	0.115	0.0533	5008	,	,		65734	0.0119		0.0437	False		,,,				2504	0.0082					ENST00000412962.1																			0																																																			0							g.chr1:16946434C>T	AK090414		1p36.13	2010-07-08	2010-07-08	2010-07-08	ENSG00000215908	ENSG00000215908			28170	pseudogene	pseudogene			"""ciliary rootlet coiled-coil, rootletin-like 1"""	CROCCL1		12477932	Standard	NR_026752		Approved	MGC12760	uc001azf.3	Q86T23	OTTHUMG00000037884		1.37:g.16946434C>T														0	1085	-								Q8NF65|Q96FR5|Q9BRE8	RNA	SNP	ENST00000412962.1	37																																																																																						0.672	CROCCP2-003	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000092784.1	NR_026752.1		5	21	0	0	0	0.184627	0	5	21				
WARS2	10352	broad.mit.edu	37	1	119683216	119683216	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr1:119683216C>T	ENST00000235521.4	-	1	78	c.52G>A	c.(52-54)Gca>Aca	p.A18T	WARS2_ENST00000369426.5_Missense_Mutation_p.A18T|RP11-418J17.1_ENST00000413531.1_RNA|RP11-418J17.1_ENST00000457043.1_RNA|RP11-418J17.1_ENST00000440150.1_RNA|WARS2_ENST00000497761.1_5'UTR|RP11-418J17.1_ENST00000425884.1_RNA|RP11-418J17.1_ENST00000418015.1_RNA|WARS2_ENST00000537870.1_5'Flank	NM_015836.3|NM_201263.2	NP_056651.1|NP_957715.1	Q9UGM6	SYWM_HUMAN	tryptophanyl tRNA synthetase 2, mitochondrial	18					gene expression (GO:0010467)|tRNA aminoacylation for protein translation (GO:0006418)|tryptophanyl-tRNA aminoacylation (GO:0006436)|vasculogenesis (GO:0001570)	mitochondrial matrix (GO:0005759)	ATP binding (GO:0005524)|tryptophan-tRNA ligase activity (GO:0004830)			breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)		Lung(183;0.0629)	L-Tryptophan(DB00150)	TTATGAAGTGCCCGGATGAAG	0.597																																						ENST00000369426.5																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(2)|lung(7)|prostate(2)	15						c.(52-54)Gca>Aca		tryptophanyl tRNA synthetase 2, mitochondrial	L-Tryptophan(DB00150)						46.0	47.0	47.0					1																	119683216		2203	4300	6503	SO:0001583	missense	10352				tryptophanyl-tRNA aminoacylation	mitochondrial matrix	ATP binding|tryptophan-tRNA ligase activity	g.chr1:119683216C>T	BC021722	CCDS900.1, CCDS30817.1	1p12	2011-07-01	2007-02-23		ENSG00000116874	ENSG00000116874	6.1.1.2	"""Aminoacyl tRNA synthetases / Class I"""	12730	protein-coding gene	gene with protein product	"""tryptophan tRNA ligase 2, mitochondrial"""	604733				10072595, 10828066	Standard	NM_201263		Approved	TrpRS	uc001ehn.3	Q9UGM6	OTTHUMG00000012335	ENST00000235521.4:c.52G>A	1.37:g.119683216C>T	ENSP00000235521:p.Ala18Thr					RP11-418J17.1_ENST00000440150.1_RNA|WARS2_ENST00000497761.1_5'UTR|RP11-418J17.1_ENST00000425884.1_RNA|WARS2_ENST00000235521.4_Missense_Mutation_p.A18T	p.A18T			Q9UGM6	SYWM_HUMAN		Lung(183;0.0629)	1	55	-	all_neural(166;0.187)	all_lung(203;2.48e-06)|Lung NSC(69;1.74e-05)|all_epithelial(167;0.000564)	18					B1ALR1|B2R9D4|Q53FT4|Q5VUD2|Q86TQ0	Missense_Mutation	SNP	ENST00000235521.4	37	c.52G>A	CCDS900.1	.	.	.	.	.	.	.	.	.	.	C	23.1	4.372938	0.82573	.	.	ENSG00000116874	ENST00000369426;ENST00000235521	T;T	0.46819	0.86;1.86	6.04	6.04	0.98038	.	0.197788	0.44902	D	0.000409	T	0.46776	0.1410	L	0.31065	0.9	0.80722	D	1	D;D;B;D	0.89917	1.0;1.0;0.001;1.0	D;D;B;D	0.83275	0.996;0.996;0.002;0.996	T	0.23440	-1.0188	10	0.22706	T	0.39	-17.0199	16.0793	0.80989	0.0:1.0:0.0:0.0	.	18;18;18;18	B7Z448;B7Z6G7;Q9UGM6;B1ALR1	.;.;SYWM_HUMAN;.	T	18	ENSP00000358434:A18T;ENSP00000235521:A18T	ENSP00000235521:A18T	A	-	1	0	WARS2	119484739	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	3.549000	0.53681	2.873000	0.98535	0.561000	0.74099	GCA		0.597	WARS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034362.1	NM_015836		19	37	0	0	0	0.592651	0	19	37				
ABCA7	10347	broad.mit.edu	37	19	1044692	1044692	+	Silent	SNP	C	C	T			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr19:1044692C>T	ENST00000263094.6	+	11	1395	c.1164C>T	c.(1162-1164)gaC>gaT	p.D388D	ABCA7_ENST00000435683.2_Silent_p.D250D|ABCA7_ENST00000433129.1_Silent_p.D388D	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	388					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		GCTGGCAGGACGCACACGCTG	0.667																																						ENST00000263094.6																			0				NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65						c.(1162-1164)gaC>gaT		ATP-binding cassette, sub-family A (ABC1), member 7							45.0	46.0	46.0					19																	1044692		2201	4298	6499	SO:0001819	synonymous_variant	10347				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	g.chr19:1044692C>T	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.1164C>T	19.37:g.1044692C>T						ABCA7_ENST00000435683.2_Silent_p.D250D|ABCA7_ENST00000433129.1_Silent_p.D388D	p.D388D	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	11	1395	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	388					Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Silent	SNP	ENST00000263094.6	37	c.1164C>T	CCDS12055.1																																																																																				0.667	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		10	46	0	0	0	0.361761	0	10	46				
LRRN2	10446	broad.mit.edu	37	1	204587235	204587235	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr1:204587235G>A	ENST00000367175.1	-	1	4098	c.1886C>T	c.(1885-1887)cCt>cTt	p.P629L	LRRN2_ENST00000496057.1_5'Flank|LRRN2_ENST00000367176.3_Missense_Mutation_p.P629L|RP11-430C7.4_ENST00000453895.1_RNA|LRRN2_ENST00000367177.3_Missense_Mutation_p.P629L			O75325	LRRN2_HUMAN	leucine rich repeat neuronal 2	629					cell adhesion (GO:0007155)|signal transduction (GO:0007165)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)			AATGAGCCCAGGACGGTCCCC	0.627																																						ENST00000367175.1																			0				central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|liver(1)|lung(22)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						c.(1885-1887)cCt>cTt		leucine rich repeat neuronal 2							44.0	47.0	46.0					1																	204587235		2203	4300	6503	SO:0001583	missense	10446				cell adhesion	integral to membrane	receptor activity	g.chr1:204587235G>A	AF030435	CCDS1448.1	1q32.1	2013-01-11	2007-01-31	2007-01-31	ENSG00000170382	ENSG00000170382		"""Immunoglobulin superfamily / I-set domain containing"""	16914	protein-coding gene	gene with protein product	"""leucine rich and ankyrin repeats 1"", ""fibronectin type III, immunoglobulin and leucine rich repeat domain 7"""	605492	"""leucine rich repeat neuronal 5"""	LRRN5		9662332	Standard	NM_006338		Approved	GAC1, LRANK1, FIGLER7	uc001hbf.1	O75325	OTTHUMG00000035989	ENST00000367175.1:c.1886C>T	1.37:g.204587235G>A	ENSP00000356143:p.Pro629Leu					LRRN2_ENST00000367176.3_Missense_Mutation_p.P629L|LRRN2_ENST00000367177.3_Missense_Mutation_p.P629L	p.P629L			O75325	LRRN2_HUMAN	KIRC - Kidney renal clear cell carcinoma(13;0.0584)|Kidney(21;0.0934)|BRCA - Breast invasive adenocarcinoma(75;0.143)		1	4098	-	all_cancers(21;0.0519)|Breast(84;0.112)|Prostate(682;0.19)		629					B2R624|Q5T0Y0|Q6UXM0|Q8N182	Missense_Mutation	SNP	ENST00000367175.1	37	c.1886C>T	CCDS1448.1	.	.	.	.	.	.	.	.	.	.	G	0.039	-1.293850	0.01375	.	.	ENSG00000170382	ENST00000367176;ENST00000367177;ENST00000367175	T;T;T	0.59083	0.29;0.29;0.29	5.6	4.5	0.54988	.	0.211961	0.23777	N	0.044678	T	0.42675	0.1213	L	0.38175	1.15	0.20764	N	0.999854	B	0.06786	0.001	B	0.04013	0.001	T	0.12528	-1.0544	10	0.16896	T	0.51	.	9.4506	0.38723	0.0854:0.0:0.7321:0.1826	.	629	O75325	LRRN2_HUMAN	L	629	ENSP00000356144:P629L;ENSP00000356145:P629L;ENSP00000356143:P629L	ENSP00000356143:P629L	P	-	2	0	LRRN2	202853858	0.549000	0.26481	0.593000	0.28771	0.084000	0.17831	1.542000	0.36137	2.640000	0.89533	0.655000	0.94253	CCT		0.627	LRRN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089894.1	NM_006338		6	33	0	0	0	0.217242	0	6	33				
ZNF462	58499	broad.mit.edu	37	9	109689383	109689383	+	Nonsense_Mutation	SNP	C	C	T			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr9:109689383C>T	ENST00000277225.5	+	3	3479	c.3190C>T	c.(3190-3192)Cag>Tag	p.Q1064*	ZNF462_ENST00000441147.2_5'Flank|ZNF462_ENST00000457913.1_Nonsense_Mutation_p.Q1064*			Q96JM2	ZN462_HUMAN	zinc finger protein 462	1064					chromatin organization (GO:0006325)|negative regulation of DNA binding (GO:0043392)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						CTTTAGGATCCAGAAAACTAT	0.453																																						ENST00000277225.5																			0				NS(2)|autonomic_ganglia(2)|breast(5)|central_nervous_system(4)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(17)|large_intestine(20)|lung(32)|ovary(5)|prostate(6)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	119						c.(3190-3192)Cag>Tag		zinc finger protein 462							161.0	156.0	158.0					9																	109689383		2203	4300	6503	SO:0001587	stop_gained	58499				transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr9:109689383C>T	AB058706	CCDS35096.1	9q31.3	2008-02-05			ENSG00000148143	ENSG00000148143		"""Zinc fingers, C2H2-type"""	21684	protein-coding gene	gene with protein product							Standard	NM_021224		Approved	DKFZP762N2316, KIAA1803, Zfp462	uc004bcz.3	Q96JM2	OTTHUMG00000020438	ENST00000277225.5:c.3190C>T	9.37:g.109689383C>T	ENSP00000277225:p.Gln1064*					ZNF462_ENST00000457913.1_Nonsense_Mutation_p.Q1064*	p.Q1064*			Q96JM2	ZN462_HUMAN			3	3479	+			1064					Q5T0T4|Q8N408	Nonsense_Mutation	SNP	ENST00000277225.5	37	c.3190C>T	CCDS35096.1	.	.	.	.	.	.	.	.	.	.	C	44	10.656085	0.99445	.	.	ENSG00000148143	ENST00000277225;ENST00000457913	.	.	.	5.6	5.6	0.85130	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	.	19.6224	0.95663	0.0:1.0:0.0:0.0	.	.	.	.	X	1064	.	ENSP00000277225:Q1064X	Q	+	1	0	ZNF462	108729204	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.714000	0.84703	2.630000	0.89119	0.655000	0.94253	CAG		0.453	ZNF462-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000053532.2	NM_021224		12	124	0	0	0	0.387290	0	12	124				
MTUS2	23281	broad.mit.edu	37	13	29600162	29600162	+	Missense_Mutation	SNP	A	A	G	rs201572486		TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr13:29600162A>G	ENST00000431530.3	+	1	1415	c.1357A>G	c.(1357-1359)Aat>Gat	p.N453D		NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN	microtubule associated tumor suppressor candidate 2	443						cytoplasm (GO:0005737)|microtubule (GO:0005874)	microtubule binding (GO:0008017)|protein homodimerization activity (GO:0042803)			NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						TATTCCTAATAATCTGACTGA	0.473																																						ENST00000431530.3																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(6)|lung(3)|prostate(1)|skin(1)	20						c.(1357-1359)Aat>Gat		microtubule associated tumor suppressor candidate 2							61.0	61.0	61.0					13																	29600162		1923	4128	6051	SO:0001583	missense	23281					cytoplasm|microtubule	microtubule binding|protein homodimerization activity	g.chr13:29600162A>G	AB018317	CCDS41874.1, CCDS45022.1	13q12.3	2013-01-17	2009-10-20	2009-10-20	ENSG00000132938	ENSG00000132938			20595	protein-coding gene	gene with protein product	"""+TIP of 150 kDa"", ""cardiac zipper protein"""		"""KIAA0774"""	KIAA0774		19543227	Standard	NM_001033602		Approved	TIP150, CAZIP, ICIS	uc001usl.4	Q5JR59	OTTHUMG00000016657	ENST00000431530.3:c.1357A>G	13.37:g.29600162A>G	ENSP00000392057:p.Asn453Asp						p.N453D	NM_001033602.2	NP_001028774.2	Q5JR59	MTUS2_HUMAN			1	1415	+			443					A7E292|B4DF81|O94872|Q08E97|Q5JQR3|Q8N5E2	Missense_Mutation	SNP	ENST00000431530.3	37	c.1357A>G	CCDS45022.1	.	.	.	.	.	.	.	.	.	.	a	0.568	-0.842385	0.02671	.	.	ENSG00000132938	ENST00000431530	T	0.10960	2.82	5.82	-2.63	0.06133	.	1.399460	0.04533	N	0.386663	T	0.02807	0.0084	N	0.00677	-1.265	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42032	-0.9475	9	.	.	.	.	6.5945	0.22666	0.4694:0.22:0.3106:0.0	.	443	Q5JR59	MTUS2_HUMAN	D	453	ENSP00000392057:N453D	.	N	+	1	0	MTUS2	28498162	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.106000	0.15354	-0.208000	0.10171	-1.338000	0.01255	AAT		0.473	MTUS2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000044336.3	XM_166270		17	48	0	0	0	0.539581	0	17	48				
RBM12B	389677	broad.mit.edu	37	8	94748131	94748131	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr8:94748131C>T	ENST00000399300.2	-	3	721	c.508G>A	c.(508-510)Gat>Aat	p.D170N	RP11-10N23.4_ENST00000517998.1_RNA|RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Missense_Mutation_p.D170N	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	170	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			ACACGTACATCATCTTCATTT	0.393																																						ENST00000399300.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30						c.(508-510)Gat>Aat		RNA binding motif protein 12B							114.0	109.0	111.0					8																	94748131		1952	4146	6098	SO:0001583	missense	389677						nucleotide binding|RNA binding	g.chr8:94748131C>T		CCDS43755.1	8q22	2014-05-20			ENSG00000183808	ENSG00000183808		"""RNA binding motif (RRM) containing"""	32310	protein-coding gene	gene with protein product							Standard	NM_203390		Approved		uc003yfz.3	Q8IXT5	OTTHUMG00000164317	ENST00000399300.2:c.508G>A	8.37:g.94748131C>T	ENSP00000382239:p.Asp170Asn					RBM12B_ENST00000517700.1_Missense_Mutation_p.D170N|RBM12B_ENST00000520961.1_Intron	p.D170N	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.0168)		3	721	-	Breast(36;4.14e-07)		170			RRM 1.		A8MYB5	Missense_Mutation	SNP	ENST00000399300.2	37	c.508G>A	CCDS43755.1	.	.	.	.	.	.	.	.	.	.	C	18.82	3.704593	0.68615	.	.	ENSG00000183808	ENST00000399300;ENST00000517700	T;T	0.12255	2.7;2.7	5.66	5.66	0.87406	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.097986	0.45126	D	0.000399	T	0.39809	0.1092	M	0.79693	2.465	0.51767	D	0.999939	D	0.69078	0.997	P	0.62491	0.903	T	0.14364	-1.0475	10	0.51188	T	0.08	-32.0679	19.3556	0.94412	0.0:1.0:0.0:0.0	.	170	Q8IXT5	RB12B_HUMAN	N	170	ENSP00000382239:D170N;ENSP00000427729:D170N	ENSP00000382239:D170N	D	-	1	0	RBM12B	94817307	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.731000	0.68554	2.672000	0.90937	0.591000	0.81541	GAT		0.393	RBM12B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383603.1	NM_203390		11	74	0	0	0	0.387290	0	11	74				
SLC6A10P	386757	broad.mit.edu	37	16	32890622	32890622	+	RNA	SNP	T	T	G	rs200656321		TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr16:32890622T>G	ENST00000330048.5	-	0	3176					NR_003083.2				solute carrier family 6 (neurotransmitter transporter), member 10, pseudogene																		CGTTGGTGTTTTTGTAGACCA	0.617																																						ENST00000330048.5																			0																																																			0							g.chr16:32890622T>G	U41163		16p11.2	2013-07-19	2013-07-19	2013-07-19	ENSG00000214617	ENSG00000214617		"""Solute carriers"""	11043	pseudogene	pseudogene	"""creatine transporter-2"""		"""solute carrier family 6 (neurotransmitter transporter, creatine), member 10"""	SLC6A10		9154116	Standard	NR_003083		Approved	CT-2	uc002edh.1		OTTHUMG00000132481		16.37:g.32890622T>G								NR_003083.2						0	3176	-									RNA	SNP	ENST00000330048.5	37																																																																																						0.617	SLC6A10P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000432081.2			4	36	0	0	0	0.184627	0	4	36				
IL1B	3553	broad.mit.edu	37	2	113591147	113591147	+	Silent	SNP	G	G	A			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr2:113591147G>A	ENST00000263341.2	-	4	315	c.105C>T	c.(103-105)tcC>tcT	p.S35S	IL1B_ENST00000491056.1_5'UTR	NM_000576.2	NP_000567.1	P01584	IL1B_HUMAN	interleukin 1, beta	35					activation of MAPK activity (GO:0000187)|apoptotic process (GO:0006915)|cell-cell signaling (GO:0007267)|cellular response to drug (GO:0035690)|cellular response to mechanical stimulus (GO:0071260)|cellular response to organic cyclic compound (GO:0071407)|cellular response to organic substance (GO:0071310)|cytokine-mediated signaling pathway (GO:0019221)|ectopic germ cell programmed cell death (GO:0035234)|embryo implantation (GO:0007566)|extrinsic apoptotic signaling pathway in absence of ligand (GO:0097192)|fever generation (GO:0001660)|hyaluronan biosynthetic process (GO:0030213)|immune response (GO:0006955)|inflammatory response (GO:0006954)|interleukin-1 beta production (GO:0032611)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MAPK cascade (GO:0000165)|monocyte aggregation (GO:0070487)|negative regulation of adiponectin secretion (GO:0070164)|negative regulation of cell proliferation (GO:0008285)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|negative regulation of glucose transport (GO:0010829)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of lipid metabolic process (GO:0045833)|negative regulation of MAP kinase activity (GO:0043407)|neutrophil chemotaxis (GO:0030593)|positive regulation of angiogenesis (GO:0045766)|positive regulation of calcidiol 1-monooxygenase activity (GO:0060559)|positive regulation of cell adhesion molecule production (GO:0060355)|positive regulation of cell division (GO:0051781)|positive regulation of chemokine biosynthetic process (GO:0045080)|positive regulation of fever generation (GO:0031622)|positive regulation of gene expression (GO:0010628)|positive regulation of granulocyte macrophage colony-stimulating factor production (GO:0032725)|positive regulation of heterotypic cell-cell adhesion (GO:0034116)|positive regulation of histone acetylation (GO:0035066)|positive regulation of histone phosphorylation (GO:0033129)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of interleukin-6 biosynthetic process (GO:0045410)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of interleukin-8 production (GO:0032757)|positive regulation of JNK cascade (GO:0046330)|positive regulation of lipid catabolic process (GO:0050996)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|positive regulation of mitosis (GO:0045840)|positive regulation of monocyte chemotactic protein-1 production (GO:0071639)|positive regulation of myosin light chain kinase activity (GO:0035505)|positive regulation of NF-kappaB import into nucleus (GO:0042346)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of prostaglandin secretion (GO:0032308)|positive regulation of protein export from nucleus (GO:0046827)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of T cell mediated immunity (GO:0002711)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030949)|positive regulation vascular endothelial growth factor production (GO:0010575)|protein kinase B signaling (GO:0043491)|regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043122)|regulation of insulin secretion (GO:0050796)|response to ATP (GO:0033198)|response to carbohydrate (GO:0009743)|sequestering of triglyceride (GO:0030730)|signal transduction (GO:0007165)|smooth muscle adaptation (GO:0014805)	cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|secretory granule (GO:0030141)	cytokine activity (GO:0005125)|interleukin-1 receptor binding (GO:0005149)|protein domain specific binding (GO:0019904)			breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12					Canakinumab(DB06168)|Gallium nitrate(DB05260)|Minocycline(DB01017)|Rilonacept(DB06372)	GGTCCTGGAAGGAGCACTGCG	0.597																																						ENST00000263341.2																			0				breast(2)|central_nervous_system(1)|large_intestine(1)|lung(8)	12						c.(103-105)tcC>tcT		interleukin 1, beta	Anakinra(DB00026)|Minocycline(DB01017)|Procaterol(DB01366)						61.0	59.0	59.0					2																	113591147		2203	4300	6503	SO:0001819	synonymous_variant	3553				activation of MAPK activity|anti-apoptosis|apoptosis|cell-cell signaling|cellular response to drug|cellular response to mechanical stimulus|cytokine-mediated signaling pathway|embryo implantation|fever generation|negative regulation of adiponectin secretion|negative regulation of cell proliferation|negative regulation of glucose transport|negative regulation of insulin receptor signaling pathway|negative regulation of lipid catabolic process|negative regulation of MAP kinase activity|positive regulation of angiogenesis|positive regulation of calcidiol 1-monooxygenase activity|positive regulation of cell adhesion molecule production|positive regulation of cell division|positive regulation of fever generation|positive regulation of granulocyte macrophage colony-stimulating factor production|positive regulation of heterotypic cell-cell adhesion|positive regulation of histone acetylation|positive regulation of histone phosphorylation|positive regulation of interferon-gamma production|positive regulation of interleukin-2 biosynthetic process|positive regulation of interleukin-6 production|positive regulation of interleukin-8 production|positive regulation of lipid catabolic process|positive regulation of membrane protein ectodomain proteolysis|positive regulation of mitosis|positive regulation of monocyte chemotactic protein-1 production|positive regulation of myosin light chain kinase activity|positive regulation of NF-kappaB import into nucleus|positive regulation of NF-kappaB transcription factor activity|positive regulation of nitric oxide biosynthetic process|positive regulation of prostaglandin secretion|positive regulation of protein export from nucleus|positive regulation of T cell proliferation|positive regulation vascular endothelial growth factor production|regulation of insulin secretion|sequestering of triglyceride|smooth muscle adaptation	cytosol|extracellular space	cytokine activity|growth factor activity|interleukin-1 receptor binding|protein domain specific binding	g.chr2:113591147G>A	M15330	CCDS2102.1	2q14	2014-01-30			ENSG00000125538	ENSG00000125538		"""Interleukins and interleukin receptors"", ""Endogenous ligands"""	5992	protein-coding gene	gene with protein product		147720				2954882, 2989698	Standard	NM_000576		Approved	IL1F2, IL-1B, IL1-BETA	uc002tii.1	P01584	OTTHUMG00000131344	ENST00000263341.2:c.105C>T	2.37:g.113591147G>A						IL1B_ENST00000491056.1_5'UTR	p.S35S	NM_000576.2	NP_000567.1	P01584	IL1B_HUMAN			4	315	-			35					Q53X59|Q53XX2|Q7M4S7|Q7RU01|Q96HE5|Q9UCT6	Silent	SNP	ENST00000263341.2	37	c.105C>T	CCDS2102.1																																																																																				0.597	IL1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254125.2	NM_000576		24	79	0	0	0	0.639603	0	24	79				
RBM12B	389677	broad.mit.edu	37	8	94747712	94747712	+	Silent	SNP	C	C	G			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr8:94747712C>G	ENST00000399300.2	-	3	1140	c.927G>C	c.(925-927)ctG>ctC	p.L309L	RP11-10N23.4_ENST00000517998.1_RNA|RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Silent_p.L309L	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	309	RRM 2. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			GTTCATCAGTCAGATCAGTAC	0.343																																						ENST00000399300.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30						c.(925-927)ctG>ctC		RNA binding motif protein 12B							60.0	59.0	59.0					8																	94747712		1808	4072	5880	SO:0001819	synonymous_variant	389677						nucleotide binding|RNA binding	g.chr8:94747712C>G		CCDS43755.1	8q22	2014-05-20			ENSG00000183808	ENSG00000183808		"""RNA binding motif (RRM) containing"""	32310	protein-coding gene	gene with protein product							Standard	NM_203390		Approved		uc003yfz.3	Q8IXT5	OTTHUMG00000164317	ENST00000399300.2:c.927G>C	8.37:g.94747712C>G						RBM12B_ENST00000517700.1_Silent_p.L309L|RBM12B_ENST00000520961.1_Intron	p.L309L	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.0168)		3	1140	-	Breast(36;4.14e-07)		309			RRM 2.		A8MYB5	Silent	SNP	ENST00000399300.2	37	c.927G>C	CCDS43755.1																																																																																				0.343	RBM12B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383603.1	NM_203390		12	67	0	0	0	0.387290	0	12	67				
RBM12B	389677	broad.mit.edu	37	8	94748053	94748053	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr8:94748053C>T	ENST00000399300.2	-	3	799	c.586G>A	c.(586-588)Gat>Aat	p.D196N	RP11-10N23.4_ENST00000517998.1_RNA|RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Missense_Mutation_p.D196N	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	196	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			ACTATGGCATCACCATTATTT	0.363																																						ENST00000399300.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30						c.(586-588)Gat>Aat		RNA binding motif protein 12B							145.0	134.0	137.0					8																	94748053		1910	4148	6058	SO:0001583	missense	389677						nucleotide binding|RNA binding	g.chr8:94748053C>T		CCDS43755.1	8q22	2014-05-20			ENSG00000183808	ENSG00000183808		"""RNA binding motif (RRM) containing"""	32310	protein-coding gene	gene with protein product							Standard	NM_203390		Approved		uc003yfz.3	Q8IXT5	OTTHUMG00000164317	ENST00000399300.2:c.586G>A	8.37:g.94748053C>T	ENSP00000382239:p.Asp196Asn					RBM12B_ENST00000517700.1_Missense_Mutation_p.D196N|RBM12B_ENST00000520961.1_Intron	p.D196N	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.0168)		3	799	-	Breast(36;4.14e-07)		196			RRM 1.		A8MYB5	Missense_Mutation	SNP	ENST00000399300.2	37	c.586G>A	CCDS43755.1	.	.	.	.	.	.	.	.	.	.	C	11.66	1.706047	0.30232	.	.	ENSG00000183808	ENST00000399300;ENST00000517700	T;T	0.09073	3.02;3.02	5.35	4.47	0.54385	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (2);	0.093191	0.46758	D	0.000275	T	0.06872	0.0175	L	0.27053	0.805	0.34016	D	0.652048	B	0.30326	0.276	B	0.36378	0.223	T	0.30621	-0.9972	10	0.13853	T	0.58	-23.4506	9.5472	0.39288	0.0:0.7804:0.1441:0.0755	.	196	Q8IXT5	RB12B_HUMAN	N	196	ENSP00000382239:D196N;ENSP00000427729:D196N	ENSP00000382239:D196N	D	-	1	0	RBM12B	94817229	0.362000	0.24980	1.000000	0.80357	0.992000	0.81027	0.857000	0.27831	1.362000	0.46000	0.585000	0.79938	GAT		0.363	RBM12B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383603.1	NM_203390		18	136	0	0	0	0.557998	0	18	136				
ROR2	4920	broad.mit.edu	37	9	94495542	94495542	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr9:94495542C>T	ENST00000375708.3	-	6	997	c.799G>A	c.(799-801)Gag>Aag	p.E267K	ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Missense_Mutation_p.E127K	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN	receptor tyrosine kinase-like orphan receptor 2	267	FZ. {ECO:0000255|PROSITE- ProRule:PRU00090}.				cartilage condensation (GO:0001502)|cell differentiation (GO:0030154)|embryonic genitalia morphogenesis (GO:0030538)|inner ear morphogenesis (GO:0042472)|JNK cascade (GO:0007254)|multicellular organismal development (GO:0007275)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell migration (GO:0030335)|positive regulation of transcription, DNA-templated (GO:0045893)|signal transduction (GO:0007165)|somitogenesis (GO:0001756)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|Wnt signaling pathway, calcium modulating pathway (GO:0007223)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	clathrin-coated endocytic vesicle membrane (GO:0030669)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)|Wnt-protein binding (GO:0017147)			autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						ATGGTGTACTCCTGGCGGCAC	0.672																																						ENST00000375708.3																			0				autonomic_ganglia(1)|breast(1)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(12)|lung(31)|ovary(3)|prostate(6)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	71						c.(799-801)Gag>Aag		receptor tyrosine kinase-like orphan receptor 2							45.0	40.0	42.0					9																	94495542		2203	4300	6503	SO:0001583	missense	4920				negative regulation of cell proliferation|positive regulation of cell migration|transmembrane receptor protein tyrosine kinase signaling pathway	integral to plasma membrane	ATP binding|transmembrane receptor protein tyrosine kinase activity|Wnt-protein binding	g.chr9:94495542C>T	M97639	CCDS6691.1	9q22	2013-01-11			ENSG00000169071	ENSG00000169071		"""Immunoglobulin superfamily / I-set domain containing"""	10257	protein-coding gene	gene with protein product		602337		NTRKR2, BDB, BDB1		1334494, 10700182	Standard	NM_004560		Approved		uc004arj.2	Q01974	OTTHUMG00000020211	ENST00000375708.3:c.799G>A	9.37:g.94495542C>T	ENSP00000364860:p.Glu267Lys					ROR2_ENST00000550066.1_5'UTR|ROR2_ENST00000375715.1_Missense_Mutation_p.E127K	p.E267K	NM_004560.3	NP_004551.2	Q01974	ROR2_HUMAN			6	997	-			267			FZ.		Q59GF5|Q5SPI5|Q9HAY7|Q9HB61	Missense_Mutation	SNP	ENST00000375708.3	37	c.799G>A	CCDS6691.1	.	.	.	.	.	.	.	.	.	.	C	35	5.428656	0.96131	.	.	ENSG00000169071	ENST00000375715;ENST00000375708	T;T	0.76448	-1.02;-1.02	4.44	4.44	0.53790	Frizzled domain (2);Kringle (1);	0.000000	0.42420	D	0.000717	D	0.88112	0.6349	M	0.78456	2.415	0.80722	D	1	D;D;D	0.89917	1.0;0.999;1.0	D;D;D	0.97110	1.0;0.995;1.0	D	0.90021	0.4128	10	0.87932	D	0	.	17.2815	0.87129	0.0:1.0:0.0:0.0	.	267;267;127	A1L4F5;Q01974;B1APY4	.;ROR2_HUMAN;.	K	127;267	ENSP00000364867:E127K;ENSP00000364860:E267K	ENSP00000364860:E267K	E	-	1	0	ROR2	93535363	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	7.560000	0.82277	2.306000	0.77630	0.561000	0.74099	GAG		0.672	ROR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053040.1			7	27	0	0	0	0.307466	0	7	27				
ZNF536	9745	broad.mit.edu	37	19	31038967	31038967	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr19:31038967G>A	ENST00000355537.3	+	4	2588	c.2441G>A	c.(2440-2442)gGg>gAg	p.G814E		NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN	zinc finger protein 536	814					negative regulation of neuron differentiation (GO:0045665)|negative regulation of retinoic acid receptor signaling pathway (GO:0048387)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|retinoic acid-responsive element binding (GO:0044323)			NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182	Esophageal squamous(110;0.0834)					CCGCTGTCTGGGCAACCCCCA	0.572																																						ENST00000355537.3																			0				NS(3)|breast(6)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(22)|lung(119)|ovary(7)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	182						c.(2440-2442)gGg>gAg		zinc finger protein 536							69.0	75.0	73.0					19																	31038967		2203	4300	6503	SO:0001583	missense	9745				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr19:31038967G>A		CCDS32984.1	19q13.11	2013-01-08				ENSG00000198597		"""Zinc fingers, C2H2-type"""	29025	protein-coding gene	gene with protein product						9205841	Standard	XM_005259445		Approved	KIAA0390	uc002nsu.1	O15090		ENST00000355537.3:c.2441G>A	19.37:g.31038967G>A	ENSP00000347730:p.Gly814Glu						p.G814E	NM_014717.1	NP_055532.1	O15090	ZN536_HUMAN			4	2588	+	Esophageal squamous(110;0.0834)		814					A2RU18	Missense_Mutation	SNP	ENST00000355537.3	37	c.2441G>A	CCDS32984.1	.	.	.	.	.	.	.	.	.	.	G	9.208	1.030089	0.19512	.	.	ENSG00000198597	ENST00000355537	T	0.10005	2.92	5.98	3.79	0.43588	.	0.269430	0.42682	D	0.000674	T	0.15219	0.0367	L	0.32530	0.975	0.37607	D	0.920789	D;D	0.53619	0.961;0.961	P;P	0.49637	0.617;0.617	T	0.04307	-1.0961	10	0.59425	D	0.04	-10.3449	16.6384	0.85065	0.0:0.2453:0.7546:0.0	.	814;814	A7E228;O15090	.;ZN536_HUMAN	E	814	ENSP00000347730:G814E	ENSP00000347730:G814E	G	+	2	0	ZNF536	35730807	1.000000	0.71417	0.355000	0.25773	0.050000	0.14768	3.521000	0.53472	0.815000	0.34398	0.591000	0.81541	GGG		0.572	ZNF536-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459667.2	NM_014717		5	139	0	0	0	0.184627	0	5	139				
PTGFRN	5738	broad.mit.edu	37	1	117504195	117504195	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr1:117504195G>C	ENST00000393203.2	+	5	1691	c.1544G>C	c.(1543-1545)tGt>tCt	p.C515S	RNA5SP55_ENST00000516701.1_RNA	NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN	prostaglandin F2 receptor inhibitor	515	Ig-like C2-type 4.				lipid particle organization (GO:0034389)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)		AATTATTACTGTGTTGTGTCT	0.453																																						ENST00000393203.2																			0				NS(1)|breast(1)|endometrium(4)|large_intestine(10)|liver(1)|lung(22)|ovary(1)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)	46						c.(1543-1545)tGt>tCt		prostaglandin F2 receptor inhibitor							79.0	76.0	77.0					1																	117504195		2203	4300	6503	SO:0001583	missense	5738					endoplasmic reticulum membrane|Golgi apparatus|integral to membrane	protein binding	g.chr1:117504195G>C	AB014734	CCDS890.1	1p13.1	2013-01-29	2013-01-25		ENSG00000134247	ENSG00000134247		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9601	protein-coding gene	gene with protein product		601204	"""prostaglandin F2 receptor negative regulator"""			8655148	Standard	NM_020440		Approved	FPRP, EWI-F, CD9P-1, FLJ11001, KIAA1436, SMAP-6, CD315	uc001egv.1	Q9P2B2	OTTHUMG00000012028	ENST00000393203.2:c.1544G>C	1.37:g.117504195G>C	ENSP00000376899:p.Cys515Ser						p.C515S	NM_020440.2	NP_065173.2	Q9P2B2	FPRP_HUMAN		Lung(183;0.0704)|LUSC - Lung squamous cell carcinoma(189;0.227)|Colorectal(144;0.248)	5	1691	+	Lung SC(450;0.225)	all_cancers(81;0.00104)|all_lung(203;8.97e-05)|all_epithelial(167;0.000139)|Lung NSC(69;0.000446)	515			Ig-like C2-type 4.		Q5VVU9|Q8N2K6	Missense_Mutation	SNP	ENST00000393203.2	37	c.1544G>C	CCDS890.1	.	.	.	.	.	.	.	.	.	.	G	21.9	4.221522	0.79464	.	.	ENSG00000134247	ENST00000393203;ENST00000544471	T	0.64991	-0.13	5.35	5.35	0.76521	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.73628	0.3611	M	0.66939	2.045	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.76716	-0.2857	10	0.87932	D	0	-18.5685	16.5508	0.84472	0.0:0.0:1.0:0.0	.	515	Q9P2B2	FPRP_HUMAN	S	515;374	ENSP00000376899:C515S	ENSP00000376899:C515S	C	+	2	0	PTGFRN	117305718	1.000000	0.71417	0.969000	0.41365	0.901000	0.52897	7.842000	0.86851	2.514000	0.84764	0.305000	0.20034	TGT		0.453	PTGFRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033271.1	NM_020440		32	62	0	0	0	0.760397	0	32	62				
BAGE2	85319	broad.mit.edu	37	21	11098863	11098863	+	RNA	SNP	A	A	G	rs75318310	byFrequency	TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr21:11098863A>G	ENST00000470054.1	-	0	62							Q86Y30	BAGE2_HUMAN	B melanoma antigen family, member 2							extracellular region (GO:0005576)								Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)		ccagcctccaactcccccttc	0.627																																						ENST00000470054.1																			0													B melanoma antigen family, member 2																																						85319							g.chr21:11098863A>G	AF218570		21p	2009-03-13			ENSG00000187172	ENSG00000187172			15723	protein-coding gene	gene with protein product	"""cancer/testis antigen family 2, member 2"""					12461691	Standard	NM_182482		Approved	CT2.2		Q86Y30	OTTHUMG00000074128		21.37:g.11098863A>G												Colorectal(6;3.44e-05)|COAD - Colon adenocarcinoma(6;0.00727)|READ - Rectum adenocarcinoma(6;0.0723)	UCEC - Uterine corpus endometrioid carcinoma (6;0.0974)|all cancers(6;2.54e-22)|Epithelial(6;4.21e-19)|OV - Ovarian serous cystadenocarcinoma(6;1.16e-09)|BRCA - Breast invasive adenocarcinoma(6;7.72e-05)|Lung(8;0.000189)|LUSC - Lung squamous cell carcinoma(6;0.00379)|GBM - Glioblastoma multiforme(6;0.00391)|Kidney(17;0.0773)|LUAD - Lung adenocarcinoma(8;0.247)	0	62	-								A8K925|Q08ER0	RNA	SNP	ENST00000470054.1	37																																																																																						0.627	BAGE2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000157417.3	NM_182482		5	26	0	0	0	0.184627	0	5	26				
PSD3	23362	broad.mit.edu	37	8	18393458	18393458	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr8:18393458T>C	ENST00000327040.8	-	16	3041	c.2939A>G	c.(2938-2940)tAt>tGt	p.Y980C	PSD3_ENST00000440756.2_Missense_Mutation_p.Y982C|PSD3_ENST00000286485.8_Missense_Mutation_p.Y446C|PSD3_ENST00000523619.1_Missense_Mutation_p.Y915C|PSD3_ENST00000428502.2_Missense_Mutation_p.Y309C	NM_015310.3	NP_056125.3	Q9NYI0	PSD3_HUMAN	pleckstrin and Sec7 domain containing 3	981					neuron differentiation (GO:0030182)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20				Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)		ATACATTTCATAGCGGGTTTT	0.483																																						ENST00000440756.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|lung(8)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	20						c.(2944-2946)tAt>tGt		pleckstrin and Sec7 domain containing 3							84.0	76.0	79.0					8																	18393458		2203	4300	6503	SO:0001583	missense	23362				regulation of ARF protein signal transduction	cell junction|cytoplasm|postsynaptic density|postsynaptic membrane	ARF guanyl-nucleotide exchange factor activity	g.chr8:18393458T>C	AF243495	CCDS34854.1, CCDS43720.1	8p21.3	2013-01-10			ENSG00000156011	ENSG00000156011		"""Pleckstrin homology (PH) domain containing"""	19093	protein-coding gene	gene with protein product		614440					Standard	NM_206909		Approved	KIAA0942, HCA67, EFA6R, DKFZp761K1423	uc003wza.3	Q9NYI0	OTTHUMG00000163711	ENST00000327040.8:c.2939A>G	8.37:g.18393458T>C	ENSP00000324127:p.Tyr980Cys					PSD3_ENST00000523619.1_Missense_Mutation_p.Y915C|PSD3_ENST00000428502.2_Missense_Mutation_p.Y309C|PSD3_ENST00000327040.8_Missense_Mutation_p.Y980C|PSD3_ENST00000286485.8_Missense_Mutation_p.Y446C	p.Y982C			Q9NYI0	PSD3_HUMAN		Colorectal(111;0.0281)|READ - Rectum adenocarcinoma(644;0.183)	16	3047	-			981					A6NFQ4|E9KL50|Q6B003|Q9Y2F1	Missense_Mutation	SNP	ENST00000327040.8	37	c.2945A>G	CCDS43720.1	.	.	.	.	.	.	.	.	.	.	T	15.25	2.778358	0.49786	.	.	ENSG00000156011	ENST00000327040;ENST00000440756;ENST00000381690;ENST00000286485;ENST00000428502;ENST00000523619	T;T;T;T	0.28255	2.15;2.17;1.62;2.15	5.8	5.8	0.92144	.	0.000000	0.41823	U	0.000802	T	0.59142	0.2172	M	0.83312	2.635	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;0.999	D;D;D;D	0.91635	0.997;0.997;0.999;0.954	T	0.65121	-0.6245	10	0.87932	D	0	.	14.0873	0.64964	0.0:0.0:0.0:1.0	.	980;981;446;309	E9KL50;Q9NYI0;Q9NYI0-3;B4DKF8	.;PSD3_HUMAN;.;.	C	980;982;202;446;309;915	ENSP00000324127:Y980C;ENSP00000401704:Y982C;ENSP00000286485:Y446C;ENSP00000430640:Y915C	ENSP00000286485:Y446C	Y	-	2	0	PSD3	18437738	1.000000	0.71417	0.700000	0.30305	0.332000	0.28634	6.367000	0.73099	2.205000	0.71048	0.533000	0.62120	TAT		0.483	PSD3-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000374867.1	NM_015310		13	86	0	0	0	0.435327	0	13	86				
RNF168	165918	broad.mit.edu	37	3	196229803	196229803	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr3:196229803T>C	ENST00000318037.3	-	1	836	c.242A>G	c.(241-243)cAa>cGa	p.Q81R		NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	ring finger protein 168, E3 ubiquitin protein ligase	81					cellular response to DNA damage stimulus (GO:0006974)|double-strand break repair (GO:0006302)|histone H2A K63-linked ubiquitination (GO:0070535)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K13 ubiquitination (GO:0036351)|histone H2A-K15 ubiquitination (GO:0036352)|interstrand cross-link repair (GO:0036297)|isotype switching (GO:0045190)|negative regulation of translational elongation (GO:0045900)|positive regulation of DNA repair (GO:0045739)|protein K63-linked ubiquitination (GO:0070534)|protein ubiquitination (GO:0016567)|response to ionizing radiation (GO:0010212)|ubiquitin-dependent protein catabolic process (GO:0006511)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|site of double-strand break (GO:0035861)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|K63-linked polyubiquitin binding (GO:0070530)|ligase activity (GO:0016874)|nucleosome binding (GO:0031491)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)		ATAGTGTTTTTGAATTATCGT	0.512																																						ENST00000318037.3																			0				NS(1)|endometrium(2)|large_intestine(7)|lung(9)|ovary(1)	20						c.(241-243)cAa>cGa		ring finger protein 168, E3 ubiquitin protein ligase							96.0	85.0	89.0					3																	196229803		2203	4300	6503	SO:0001583	missense	165918				double-strand break repair|histone H2A K63-linked ubiquitination|positive regulation of DNA repair|response to ionizing radiation	nucleus|ubiquitin ligase complex	chromatin binding|histone binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr3:196229803T>C	AK054732	CCDS3317.1	3q29	2014-09-17	2012-02-23		ENSG00000163961	ENSG00000163961		"""RING-type (C3HC4) zinc fingers"""	26661	protein-coding gene	gene with protein product		612688	"""ring finger protein 168"""			12477932	Standard	NM_152617		Approved	FLJ35794	uc003fwq.3	Q8IYW5	OTTHUMG00000155582	ENST00000318037.3:c.242A>G	3.37:g.196229803T>C	ENSP00000320898:p.Gln81Arg						p.Q81R	NM_152617.3	NP_689830.2	Q8IYW5	RN168_HUMAN	Epithelial(36;5.25e-24)|all cancers(36;5.47e-22)|OV - Ovarian serous cystadenocarcinoma(49;1.76e-18)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.00348)	1	836	-	all_cancers(143;1e-08)|Ovarian(172;0.0634)|Breast(254;0.206)		81					Q8NA67|Q96NS4	Missense_Mutation	SNP	ENST00000318037.3	37	c.242A>G	CCDS3317.1	.	.	.	.	.	.	.	.	.	.	T	14.16	2.453114	0.43531	.	.	ENSG00000163961	ENST00000318037	T	0.09073	3.02	6.0	6.0	0.97389	.	0.000000	0.64402	D	0.000016	T	0.13927	0.0337	L	0.58810	1.83	0.58432	D	0.999998	P	0.39060	0.657	B	0.40410	0.328	T	0.00855	-1.1539	10	0.46703	T	0.11	-23.9701	16.56	0.84537	0.0:0.0:0.0:1.0	.	81	Q8IYW5	RN168_HUMAN	R	81	ENSP00000320898:Q81R	ENSP00000320898:Q81R	Q	-	2	0	RNF168	197714200	1.000000	0.71417	0.986000	0.45419	0.081000	0.17604	6.248000	0.72418	2.313000	0.78055	0.454000	0.30748	CAA		0.512	RNF168-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340778.1	NM_152617		32	57	0	0	0	0.769981	0	32	57				
PCDHGB4	8641	broad.mit.edu	37	5	140769361	140769361	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr5:140769361G>A	ENST00000519479.1	+	1	1910	c.1910G>A	c.(1909-1911)cGc>cAc	p.R637H	PCDHGA4_ENST00000571252.1_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1	Q9UN71	PCDGG_HUMAN	protocadherin gamma subfamily B, 4	637	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GACGCCGTCCGCCAGCGCCTT	0.692																																						ENST00000519479.1																			0				endometrium(9)|kidney(3)|large_intestine(4)|lung(14)|ovary(1)|prostate(1)|stomach(3)|urinary_tract(2)	37						c.(1909-1911)cGc>cAc									42.0	46.0	44.0					5																	140769361		2109	4211	6320	SO:0001583	missense	0							g.chr5:140769361G>A	AF152520	CCDS54928.1, CCDS75337.1	5q31	2010-01-26				ENSG00000253953		"""Cadherins / Protocadherins : Clustered"""	8711	other	protocadherin	"""fibroblast cadherin FIB2"", ""cadherin 20"""	603058				10380929	Standard	NM_003736		Approved	FIB2, CDH20, PCDH-GAMMA-B4		Q9UN71		ENST00000519479.1:c.1910G>A	5.37:g.140769361G>A	ENSP00000428288:p.Arg637His					PCDHGB1_ENST00000523390.1_Intron|PCDHGA7_ENST00000518325.1_Intron|PCDHGA6_ENST00000517434.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB3_ENST00000576222.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGA5_ENST00000518069.1_Intron|PCDHGA3_ENST00000253812.6_Intron	p.R637H	NM_003736.2|NM_018925.2|NM_032098.1	NP_003727.1|NP_061748.1|NP_115269.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	1910	+								O15099|Q2M267|Q9UN64	Missense_Mutation	SNP	ENST00000519479.1	37	c.1910G>A	CCDS54928.1	.	.	.	.	.	.	.	.	.	.	.	13.64	2.298946	0.40694	.	.	ENSG00000253953	ENST00000519479	T	0.52754	0.65	5.05	5.05	0.67936	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.61565	0.2357	L	0.51422	1.61	0.09310	N	1	D;D	0.89917	1.0;1.0	D;D	0.87578	0.997;0.998	T	0.53085	-0.8488	9	0.87932	D	0	.	10.4579	0.44561	0.1256:0.0:0.8744:0.0	.	637;637	Q9UN71-2;Q9UN71	.;PCDGG_HUMAN	H	637	ENSP00000428288:R637H	ENSP00000428288:R637H	R	+	2	0	PCDHGB4	140749545	0.000000	0.05858	0.574000	0.28523	0.026000	0.11368	1.121000	0.31283	2.503000	0.84419	0.563000	0.77884	CGC		0.692	PCDHGB4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374745.1	NM_003736		19	46	0	0	0	0.575678	0	19	46				
KTN1	3895	broad.mit.edu	37	14	56117347	56117347	+	Missense_Mutation	SNP	G	G	A	rs148189219		TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr14:56117347G>A	ENST00000395314.3	+	24	2625	c.2557G>A	c.(2557-2559)Gct>Act	p.A853T	KTN1_ENST00000554507.1_Missense_Mutation_p.A148T|KTN1_ENST00000413890.2_Intron|Y_RNA_ENST00000363872.1_RNA|KTN1_ENST00000395308.1_Intron|KTN1_ENST00000395311.1_Intron|KTN1_ENST00000395309.3_Missense_Mutation_p.A853T|KTN1_ENST00000438792.2_Missense_Mutation_p.A853T|KTN1_ENST00000416613.1_Missense_Mutation_p.A853T	NM_001079521.1	NP_001072989.1	Q86UP2	KTN1_HUMAN	kinectin 1 (kinesin receptor)	853					microtubule-based movement (GO:0007018)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						GCTTGAAAAGGCTCAACAGGT	0.328			T	RET	papillary thryoid																																	ENST00000416613.1				Dom	yes		14	14q22.1	3895	T	kinectin 1 (kinesin receptor)			E	RET		papillary thryoid		0				breast(4)|central_nervous_system(1)|large_intestine(8)|lung(1)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	19						c.(2557-2559)Gct>Act		kinectin 1 (kinesin receptor)							93.0	105.0	101.0					14																	56117347		2203	4300	6503	SO:0001583	missense	0				microtubule-based movement	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction		g.chr14:56117347G>A		CCDS41957.1, CCDS41958.1, CCDS41959.1	14q22.1	2008-05-02			ENSG00000126777	ENSG00000126777			6467	protein-coding gene	gene with protein product		600381				9605849	Standard	NM_001079521		Approved	KIAA0004, CG1	uc001xcc.3	Q86UP2	OTTHUMG00000140312	ENST00000395314.3:c.2557G>A	14.37:g.56117347G>A	ENSP00000378725:p.Ala853Thr					KTN1_ENST00000554507.1_Missense_Mutation_p.A148T|KTN1_ENST00000438792.2_Missense_Mutation_p.A853T|KTN1_ENST00000395308.1_Intron|KTN1_ENST00000413890.2_Intron|KTN1_ENST00000395311.1_Intron|KTN1_ENST00000395309.3_Missense_Mutation_p.A853T|KTN1_ENST00000395314.3_Missense_Mutation_p.A853T	p.A853T			Q86UP2	KTN1_HUMAN			23	2629	+			853					B4DZ88|Q13999|Q14707|Q15387|Q17RZ5|Q5GGW3|Q86W57	Missense_Mutation	SNP	ENST00000395314.3	37	c.2557G>A	CCDS41957.1	.	.	.	.	.	.	.	.	.	.	G	20.9	4.068407	0.76301	.	.	ENSG00000126777	ENST00000395309;ENST00000438792;ENST00000395314;ENST00000416613;ENST00000554507;ENST00000554890	T;T;T;T;T	0.49432	1.4;1.37;1.4;1.4;0.78	5.75	5.75	0.90469	.	0.120416	0.38436	N	0.001694	T	0.51092	0.1654	L	0.50333	1.59	0.38679	D	0.952509	P;P;P;B	0.42375	0.633;0.735;0.778;0.259	B;B;P;B	0.45167	0.204;0.209;0.472;0.099	T	0.44221	-0.9342	10	0.23891	T	0.37	-12.0708	19.9227	0.97093	0.0:0.0:1.0:0.0	.	853;148;853;853	B4DZ88;G3V4Y7;Q86UP2-2;Q86UP2	.;.;.;KTN1_HUMAN	T	853;853;853;853;148;139	ENSP00000378720:A853T;ENSP00000391964:A853T;ENSP00000378725:A853T;ENSP00000388807:A853T;ENSP00000452073:A148T	ENSP00000378720:A853T	A	+	1	0	KTN1	55187100	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.774000	0.75012	2.703000	0.92315	0.585000	0.79938	GCT		0.328	KTN1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276912.2			5	80	0	0	0	0.184627	0	5	80				
CEP164	22897	broad.mit.edu	37	11	117266823	117266823	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr11:117266823T>C	ENST00000278935.3	+	25	3290	c.3143T>C	c.(3142-3144)gTt>gCt	p.V1048A	CEP164_ENST00000533706.1_3'UTR	NM_001271933.1|NM_014956.4	NP_001258862.1|NP_055771.4	Q9UPV0	CE164_HUMAN	centrosomal protein 164kDa	1048					cilium assembly (GO:0042384)|DNA repair (GO:0006281)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centriole (GO:0005814)|centrosome (GO:0005813)|ciliary transition fiber (GO:0097539)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular space (GO:0005615)|nucleus (GO:0005634)				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)		GAAGTGACAGTTGAGGAAAAT	0.552																																						ENST00000278935.3																			0				breast(3)|central_nervous_system(1)|kidney(7)|large_intestine(12)|lung(18)|ovary(3)|prostate(3)	47						c.(3142-3144)gTt>gCt		centrosomal protein 164kDa							104.0	107.0	106.0					11																	117266823		2201	4296	6497	SO:0001583	missense	22897				cell division|DNA repair|G2/M transition of mitotic cell cycle|mitosis	centriole|cytosol|nucleus		g.chr11:117266823T>C	AB028975	CCDS31683.1	11q23.3	2014-02-20			ENSG00000110274	ENSG00000110274			29182	protein-coding gene	gene with protein product		614848				10470851, 14654843	Standard	NM_014956		Approved	KIAA1052, NPHP15	uc001prc.3	Q9UPV0	OTTHUMG00000167070	ENST00000278935.3:c.3143T>C	11.37:g.117266823T>C	ENSP00000278935:p.Val1048Ala					CEP164_ENST00000533706.1_3'UTR	p.V1048A	NM_014956.4	NP_055771.4	Q9UPV0	CE164_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4e-05)|Epithelial(105;0.0008)	25	3290	+	all_hematologic(175;0.0487)	Breast(348;0.00908)|Medulloblastoma(222;0.0425)|all_hematologic(192;0.196)|all_neural(223;0.234)	1048					Q6PKH9|Q7Z2X9|Q9NVS0|Q9UFJ6	Missense_Mutation	SNP	ENST00000278935.3	37	c.3143T>C	CCDS31683.1	.	.	.	.	.	.	.	.	.	.	T	0.024	-1.389740	0.01185	.	.	ENSG00000110274	ENST00000278935;ENST00000529538	T	0.26957	1.7	5.15	0.167	0.15006	.	0.466494	0.18071	N	0.152610	T	0.08537	0.0212	N	0.03324	-0.35	0.09310	N	1	B;B;B;B	0.06786	0.0;0.001;0.001;0.001	B;B;B;B	0.08055	0.001;0.003;0.003;0.003	T	0.38908	-0.9639	10	0.07325	T	0.83	-0.0257	8.8697	0.35309	0.0:0.6076:0.0:0.3924	.	1022;822;1048;1051	E9PI34;Q9NTH6;Q9UPV0;Q9UPV0-2	.;.;CE164_HUMAN;.	A	1048;1022	ENSP00000278935:V1048A	ENSP00000278935:V1048A	V	+	2	0	CEP164	116772033	0.000000	0.05858	0.000000	0.03702	0.153000	0.21895	-0.260000	0.08708	0.002000	0.14630	0.482000	0.46254	GTT		0.552	CEP164-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392893.1	NM_014956		47	180	0	0	0	0.870114	0	47	180				
ACSL4	2182	broad.mit.edu	37	X	108926516	108926516	+	Nonsense_Mutation	SNP	G	G	C			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chrX:108926516G>C	ENST00000469796.2	-	3	596	c.200C>G	c.(199-201)tCa>tGa	p.S67*	ACSL4_ENST00000340800.2_Nonsense_Mutation_p.S67*|ACSL4_ENST00000348502.6_Nonsense_Mutation_p.S26*			O60488	ACSL4_HUMAN	acyl-CoA synthetase long-chain family member 4	67					cellular lipid metabolic process (GO:0044255)|dendritic spine development (GO:0060996)|embryonic process involved in female pregnancy (GO:0060136)|fatty acid transport (GO:0015908)|lipid biosynthetic process (GO:0008610)|lipid metabolic process (GO:0006629)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|negative regulation of prostaglandin secretion (GO:0032307)|positive regulation of cell growth (GO:0030307)|response to interleukin-15 (GO:0070672)|response to nutrient (GO:0007584)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|ER-mitochondrion membrane contact site (GO:0044233)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|neuronal cell body (GO:0043025)|peroxisome (GO:0005777)	arachidonate-CoA ligase activity (GO:0047676)|ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|very long-chain fatty acid-CoA ligase activity (GO:0031957)			breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22					Icosapent(DB00159)|Rosiglitazone(DB00412)	TACAGCTAGTGAGTCGAAGTG	0.448																																					Pancreas(188;358 2127 38547 41466 45492)	ENST00000340800.2																			0				breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(6)|lung(6)|ovary(2)	22						c.(199-201)tCa>tGa		acyl-CoA synthetase long-chain family member 4	Icosapent(DB00159)|Troglitazone(DB00197)						218.0	202.0	208.0					X																	108926516		2203	4299	6502	SO:0001587	stop_gained	2182				fatty acid metabolic process|learning or memory|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chrX:108926516G>C	BC034959	CCDS14548.1, CCDS14549.1	Xq22.3-q23	2008-02-05	2004-02-19	2004-02-20	ENSG00000068366	ENSG00000068366		"""Acyl-CoA synthetase family"""	3571	protein-coding gene	gene with protein product	"""lignoceroyl-CoA synthase"", "" long-chain fatty-acid-Coenzyme A ligase 4"""	300157	"""fatty-acid-Coenzyme A ligase, long-chain 4"", ""mental retardation, X-linked 63"", ""mental retardation, X-linked 68"""	FACL4, MRX63, MRX68		9480748, 12949969	Standard	NM_022977		Approved	ACS4, LACS4	uc004eoi.2	O60488	OTTHUMG00000022190	ENST00000469796.2:c.200C>G	X.37:g.108926516G>C	ENSP00000419171:p.Ser67*					ACSL4_ENST00000469796.2_Nonsense_Mutation_p.S67*|ACSL4_ENST00000348502.6_Nonsense_Mutation_p.S26*	p.S67*	NM_022977.2	NP_075266.1	O60488	ACSL4_HUMAN			4	704	-			67					D3DUY2|O60848|O60849|Q5JWV8	Nonsense_Mutation	SNP	ENST00000469796.2	37	c.200C>G	CCDS14548.1	.	.	.	.	.	.	.	.	.	.	G	39	7.764794	0.98477	.	.	ENSG00000068366	ENST00000348502;ENST00000469796;ENST00000340800;ENST00000505855;ENST00000502391;ENST00000508092;ENST00000504980	.	.	.	5.57	5.57	0.84162	.	0.056332	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-7.8053	18.5816	0.91172	0.0:0.0:1.0:0.0	.	.	.	.	X	26;67;67;26;67;67;67	.	ENSP00000339787:S67X	S	-	2	0	ACSL4	108813172	1.000000	0.71417	0.974000	0.42286	0.990000	0.78478	9.471000	0.97696	2.331000	0.79229	0.506000	0.49869	TCA		0.448	ACSL4-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000358155.2	NM_004458		3	257	0	0	0	0.184627	0	3	257				
SLTM	79811	broad.mit.edu	37	15	59186365	59186365	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr15:59186365T>C	ENST00000380516.2	-	11	1492	c.1405A>G	c.(1405-1407)Atg>Gtg	p.M469V	AC025918.2_ENST00000452467.1_RNA|SLTM_ENST00000536328.1_Missense_Mutation_p.M38V	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN	SAFB-like, transcription modulator	469					apoptotic process (GO:0006915)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						TCTTTCTTCATTTCTTTCTTA	0.294																																						ENST00000380516.2																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(9)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1405-1407)Atg>Gtg		SAFB-like, transcription modulator							85.0	80.0	82.0					15																	59186365		2188	4289	6477	SO:0001583	missense	79811				apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	nucleotide binding|RNA binding	g.chr15:59186365T>C	BC046119	CCDS10168.2	15q21.3	2013-02-12			ENSG00000137776	ENSG00000137776		"""RNA binding motif (RRM) containing"""	20709	protein-coding gene	gene with protein product							Standard	XR_243128		Approved	Met, FLJ13213	uc002afp.3	Q9NWH9	OTTHUMG00000074033	ENST00000380516.2:c.1405A>G	15.37:g.59186365T>C	ENSP00000369887:p.Met469Val					SLTM_ENST00000536328.1_Missense_Mutation_p.M38V	p.M469V	NM_001013843.1|NM_024755.2	NP_001013865.1|NP_079031.2	Q9NWH9	SLTM_HUMAN			11	1492	-			469					A8K5V8|B2RTX3|Q2VPK7|Q52MB3|Q658J7|Q6ZNF2|Q86TK6|Q9H7C3|Q9H8U9	Missense_Mutation	SNP	ENST00000380516.2	37	c.1405A>G	CCDS10168.2	.	.	.	.	.	.	.	.	.	.	T	11.67	1.708574	0.30322	.	.	ENSG00000137776	ENST00000380516;ENST00000432750;ENST00000536328;ENST00000249736	D;T	0.86956	-2.19;2.86	5.46	0.551	0.17225	.	0.132360	0.33610	N	0.004722	T	0.69214	0.3086	N	0.14661	0.345	0.22737	N	0.998798	B;B	0.06786	0.001;0.0	B;B	0.04013	0.001;0.001	T	0.51957	-0.8639	10	0.10636	T	0.68	.	5.9184	0.19067	0.2961:0.0:0.3918:0.3121	.	469;38	Q9NWH9;A8K5V8	SLTM_HUMAN;.	V	469;62;38;451	ENSP00000369887:M469V;ENSP00000249736:M451V	ENSP00000249736:M451V	M	-	1	0	SLTM	56973657	0.052000	0.20516	0.988000	0.46212	0.993000	0.82548	0.155000	0.16362	-0.156000	0.11079	0.528000	0.53228	ATG		0.294	SLTM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157124.1	NM_024755		4	39	0	0	0	0.184627	0	4	39				
NPIPA5	100288332	broad.mit.edu	37	16	15457701	15457701	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr16:15457701G>A	ENST00000360151.4	-	8	867	c.868C>T	c.(868-870)Ctc>Ttc	p.L290F		NM_001277325.1	NP_001264254.1	E9PKD4	NPIA5_HUMAN	nuclear pore complex interacting protein family, member A5	290	Pro-rich.							p.L290F(2)									AGGGGAGTGAGCAGACACTCG	0.562																																						ENST00000360151.4																			2	Substitution - Missense(2)	p.L290F(2)	kidney(2)								c.(868-870)Ctc>Ttc		nuclear pore complex interacting protein family, member A5																																				SO:0001583	missense	100288332							g.chr16:15457701G>A		CCDS59264.1	16p13.11	2013-06-11			ENSG00000183793	ENSG00000183793			41980	protein-coding gene	gene with protein product							Standard	NM_001277325		Approved			E9PKD4	OTTHUMG00000166305	ENST00000360151.4:c.868C>T	16.37:g.15457701G>A	ENSP00000433597:p.Leu290Phe						p.L290F	NM_001277325.1	NP_001264254.1					8	867	-								Q0P618	Missense_Mutation	SNP	ENST00000360151.4	37	c.868C>T	CCDS59264.1	.	.	.	.	.	.	.	.	.	.	.	4.044	0.005714	0.07866	.	.	ENSG00000183793	ENST00000360151	T	0.56275	0.47	.	.	.	.	.	.	.	.	T	0.52338	0.1728	M	0.62723	1.935	0.09310	N	1	.	.	.	.	.	.	T	0.44742	-0.9308	4	0.36615	T	0.2	.	.	.	.	.	.	.	.	F	290	ENSP00000433597:L290F	ENSP00000433597:L290F	L	-	1	0	RP11-82O18.1	15365202	.	.	.	.	.	.	.	.	.	.	.	.	CTC		0.562	NPIPA5-001	NOVEL	not_best_in_genome_evidence|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389069.1			5	207	0	0	0	0.307466	0	5	207				
ATRX	546	broad.mit.edu	37	X	76939496	76939496	+	Nonsense_Mutation	SNP	G	G	A			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chrX:76939496G>A	ENST00000373344.5	-	9	1466	c.1252C>T	c.(1252-1254)Cga>Tga	p.R418*	ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.R380*	NM_000489.3	NP_000480.3	P46100	ATRX_HUMAN	alpha thalassemia/mental retardation syndrome X-linked	418					ATP catabolic process (GO:0006200)|cellular response to hydroxyurea (GO:0072711)|chromatin remodeling (GO:0006338)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA duplex unwinding (GO:0032508)|DNA methylation (GO:0006306)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication-independent nucleosome assembly (GO:0006336)|forebrain development (GO:0030900)|negative regulation of telomeric RNA transcription from RNA pol II promoter (GO:1901581)|nucleosome assembly (GO:0006334)|positive regulation of nuclear cell cycle DNA replication (GO:0010571)|positive regulation of telomere maintenance (GO:0032206)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|replication fork processing (GO:0031297)|seminiferous tubule development (GO:0072520)|Sertoli cell development (GO:0060009)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|mitochondrion (GO:0005739)|nuclear heterochromatin (GO:0005720)|nucleolus (GO:0005730)|nucleus (GO:0005634)|SWI/SNF superfamily-type complex (GO:0070603)|telomeric heterochromatin (GO:0031933)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|DNA translocase activity (GO:0015616)|helicase activity (GO:0004386)|histone binding (GO:0042393)|methylated histone binding (GO:0035064)|zinc ion binding (GO:0008270)	p.?(1)		bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						TCCATCGCTCGAAACTCGGAA	0.373			"""Mis, F, N"""		"""Pancreatic neuroendocrine tumors, paediatric GBM"""		ATR-X (alpha thalassemia/mental retardation) syndrome																															ENST00000373344.5				Rec	yes		X	Xq21.1	546	"""Mis, F, N"""	alpha thalassemia/mental retardation syndrome X-linked	yes	ATR-X (alpha thalassemia/mental retardation) syndrome	E			"""Pancreatic neuroendocrine tumors, paediatric GBM"""		1	Unknown(1)	p.?(1)	bone(1)	bone(1)|breast(6)|central_nervous_system(31)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(15)|kidney(14)|large_intestine(1)|liver(1)|lung(40)|ovary(2)|pancreas(13)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	145						c.(1252-1254)Cga>Tga		alpha thalassemia/mental retardation syndrome X-linked	Phosphatidylserine(DB00144)						163.0	162.0	162.0					X																	76939496		2203	4295	6498	SO:0001587	stop_gained	546				DNA methylation|DNA recombination|DNA repair|regulation of transcription, DNA-dependent	nuclear heterochromatin	ATP binding|chromo shadow domain binding|DNA binding|DNA helicase activity|zinc ion binding	g.chrX:76939496G>A	U72937	CCDS14434.1, CCDS14435.1	Xq21.1	2014-06-17	2010-06-24		ENSG00000085224	ENSG00000085224			886	protein-coding gene	gene with protein product	"""RAD54 homolog (S. cerevisiae)"""	300032	"""alpha thalassemia/mental retardation syndrome X-linked (RAD54 (S. cerevisiae) homolog)"", ""Juberg-Marsidi syndrome"""	RAD54, JMS		7874112, 1415255, 8503439, 8630485	Standard	NM_000489		Approved	XH2, XNP	uc004ecp.4	P46100	OTTHUMG00000022686	ENST00000373344.5:c.1252C>T	X.37:g.76939496G>A	ENSP00000362441:p.Arg418*					ATRX_ENST00000480283.1_5'UTR|ATRX_ENST00000395603.3_Nonsense_Mutation_p.R380*	p.R418*	NM_000489.3	NP_000480.2	P46100	ATRX_HUMAN			9	1466	-			418					D3DTE2|P51068|Q15886|Q59FB5|Q59H31|Q5H9A2|Q5JWI4|Q7Z2J1|Q9H0Z1|Q9NTS3	Nonsense_Mutation	SNP	ENST00000373344.5	37	c.1252C>T	CCDS14434.1	.	.	.	.	.	.	.	.	.	.	g	17.75	3.465931	0.63625	.	.	ENSG00000085224	ENST00000373344;ENST00000395603;ENST00000400862	.	.	.	5.06	3.23	0.37069	.	0.919132	0.09194	N	0.835594	.	.	.	.	.	.	0.31534	N	0.660867	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	3.1135	9.6724	0.40019	0.0:0.1335:0.5848:0.2817	.	.	.	.	X	418;380;374	.	ENSP00000362441:R418X	R	-	1	2	ATRX	76826152	0.353000	0.24904	0.102000	0.21198	0.011000	0.07611	1.048000	0.30379	0.334000	0.23590	0.509000	0.49947	CGA		0.373	ATRX-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000058860.2	NM_000489		184	169	0	0	0	0.870114	0	184	169				
RP11-156P1.2	0	broad.mit.edu	37	17	45127272	45127272	+	IGR	SNP	A	A	C			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr17:45127272A>C	ENST00000571841.1	+	0	889				LRRC37A17P_ENST00000570478.1_RNA|RP11-156P1.3_ENST00000575173.1_RNA																							ACAAATATGAAGGCTTCTAAA	0.428																																						ENST00000575173.1																			0																																																	SO:0001628	intergenic_variant	0							g.chr17:45127272A>C																													17.37:g.45127272A>C														0	418	-									RNA	SNP	ENST00000571841.1	37																																																																																						0.428	RP11-156P1.2-001	KNOWN	basic|appris_principal|readthrough_transcript	nonsense_mediated_decay	protein_coding	OTTHUMT00000440447.1			9	125	0	0	0	0.361761	0	9	125				
NEB	4703	broad.mit.edu	37	2	152376199	152376199	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr2:152376199C>T	ENST00000172853.10	-	126	17607	c.17460G>A	c.(17458-17460)atG>atA	p.M5820I	NEB_ENST00000604864.1_Missense_Mutation_p.M7521I|NEB_ENST00000397345.3_Missense_Mutation_p.M7521I|NEB_ENST00000427231.2_Missense_Mutation_p.M7521I|NEB_ENST00000603639.1_Missense_Mutation_p.M7521I|NEB_ENST00000409198.1_Missense_Mutation_p.M5820I			P20929	NEBU_HUMAN	nebulin	5820					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		TAGCATCTTTCATGACTTTGT	0.323																																						ENST00000397345.3																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(22561-22563)atG>atA		nebulin							270.0	245.0	253.0					2																	152376199		1847	4094	5941	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152376199C>T	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.17460G>A	2.37:g.152376199C>T	ENSP00000172853:p.Met5820Ile					NEB_ENST00000604864.1_Missense_Mutation_p.M7521I|NEB_ENST00000172853.10_Missense_Mutation_p.M5820I|NEB_ENST00000427231.2_Missense_Mutation_p.M7521I|NEB_ENST00000409198.1_Missense_Mutation_p.M5820I|NEB_ENST00000603639.1_Missense_Mutation_p.M7521I	p.M7521I	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	154	22765	-			5820					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.22563G>A		.	.	.	.	.	.	.	.	.	.	C	19.57	3.851789	0.71719	.	.	ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853	T;T;T;T;T	0.05996	3.48;3.47;3.48;3.36;3.48	6.16	6.16	0.99307	.	0.090030	0.85682	D	0.000000	T	0.06917	0.0176	L	0.36672	1.1	0.80722	D	1	B;B;P	0.42785	0.032;0.251;0.79	B;B;B	0.39217	0.041;0.176;0.294	T	0.47262	-0.9131	10	0.21014	T	0.42	.	15.5636	0.76269	0.1378:0.8622:0.0:0.0	.	5820;7521;2251	P20929;F8WCP0;Q14215	NEBU_HUMAN;.;.	I	5820;7521;7521;1869;2251;5820	ENSP00000386259:M5820I;ENSP00000380505:M7521I;ENSP00000416578:M7521I;ENSP00000410961:M2251I;ENSP00000172853:M5820I	ENSP00000172853:M5820I	M	-	3	0	NEB	152084445	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	3.447000	0.52936	2.937000	0.99478	0.650000	0.86243	ATG		0.323	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		10	118	0	0	0	0.435327	0	10	118				
MICAL3	57553	broad.mit.edu	37	22	18301254	18301254	+	Silent	SNP	C	C	T	rs372315420		TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr22:18301254C>T	ENST00000441493.2	-	26	4525	c.4173G>A	c.(4171-4173)ctG>ctA	p.L1391L	MICAL3_ENST00000580469.1_5'Flank	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 3	1391	Pro-rich.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|exocytosis (GO:0006887)|oxidation-reduction process (GO:0055114)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|zinc ion binding (GO:0008270)			large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4		all_epithelial(15;0.198)		Lung(27;0.0427)		CCGGCTTTGGCAGGCCCAGCC	0.632																																						ENST00000441493.2																			0				large_intestine(1)|lung(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	4						c.(4171-4173)ctG>ctA		microtubule associated monooxygenase, calponin and LIM domain containing 3							77.0	90.0	86.0					22																	18301254		1910	4096	6006	SO:0001819	synonymous_variant	57553					cytoplasm|cytoskeleton	monooxygenase activity|zinc ion binding	g.chr22:18301254C>T	AB037785	CCDS46659.1, CCDS46660.1, CCDS46661.1	22q11.21	2013-03-26	2013-03-26		ENSG00000243156	ENSG00000243156			24694	protein-coding gene	gene with protein product		608882				12110185	Standard	NM_015241		Approved	KIAA0819	uc002zng.4	Q7RTP6	OTTHUMG00000150067	ENST00000441493.2:c.4173G>A	22.37:g.18301254C>T							p.L1391L	NM_015241.2	NP_056056.2	Q7RTP6	MICA3_HUMAN		Lung(27;0.0427)	26	4525	-		all_epithelial(15;0.198)	1391			Pro-rich.		B2RXJ5|E9PEF0|O94909|Q5U4P4|Q6ICK4|Q96DF2|Q9P2I3	Silent	SNP	ENST00000441493.2	37	c.4173G>A	CCDS46659.1	.	.	.	.	.	.	.	.	.	.	C	0.114	-1.134371	0.01742	.	.	ENSG00000093100	ENST00000252134	.	.	.	4.28	2.04	0.26737	.	.	.	.	.	T	0.22475	0.0542	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.19095	-1.0316	4	.	.	.	.	2.3752	0.04340	0.1296:0.5082:0.1269:0.2353	.	.	.	.	Y	373	.	.	C	-	2	0	XXbac-B461K10.4	16681254	0.116000	0.22171	0.876000	0.34364	0.177000	0.22998	-0.142000	0.10311	0.746000	0.32786	0.455000	0.32223	TGC		0.632	MICAL3-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000447351.1			5	281	0	0	0	0.217242	0	5	281				
P2RY2	5029	broad.mit.edu	37	11	72945337	72945337	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr11:72945337G>A	ENST00000311131.2	+	3	600	c.133G>A	c.(133-135)Gtg>Atg	p.V45M	P2RY2_ENST00000393596.2_Missense_Mutation_p.V45M|P2RY2_ENST00000393597.2_Missense_Mutation_p.V45M	NM_002564.2|NM_176072.1	NP_002555|NP_788086	P41231	P2RY2_HUMAN	purinergic receptor P2Y, G-protein coupled, 2	45					cellular ion homeostasis (GO:0006873)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of mucus secretion (GO:0070257)|regulation of vasodilation (GO:0042312)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled purinergic nucleotide receptor activity (GO:0045028)|receptor activity (GO:0004872)			endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25					Suramin(DB04786)	CGTGGTGTGCGTGCCTGGGCT	0.587																																						ENST00000311131.2																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(2)	25						c.(133-135)Gtg>Atg		purinergic receptor P2Y, G-protein coupled, 2	Suramin(DB04786)						253.0	206.0	222.0					11																	72945337		2200	4293	6493	SO:0001583	missense	5029				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger	integral to plasma membrane	purinergic nucleotide receptor activity, G-protein coupled	g.chr11:72945337G>A	U07225	CCDS8219.1	11q13.5-q14.1	2012-08-08				ENSG00000175591		"""Purinergic receptors"", ""GPCR / Class A : Purinergic receptors, P2Y"""	8541	protein-coding gene	gene with protein product		600041				8159738, 9286708	Standard	NM_002564		Approved	P2U	uc001otj.4	P41231		ENST00000311131.2:c.133G>A	11.37:g.72945337G>A	ENSP00000310305:p.Val45Met					P2RY2_ENST00000393596.2_Missense_Mutation_p.V45M|P2RY2_ENST00000393597.2_Missense_Mutation_p.V45M	p.V45M	NM_002564.2|NM_176072.1	NP_002555.2|NP_788086.1	P41231	P2RY2_HUMAN			3	600	+			45					B2R9W3|Q96EM8	Missense_Mutation	SNP	ENST00000311131.2	37	c.133G>A	CCDS8219.1	.	.	.	.	.	.	.	.	.	.	G	15.14	2.746094	0.49151	.	.	ENSG00000175591	ENST00000393597;ENST00000311131;ENST00000393596	T;T;T	0.41758	0.99;0.99;0.99	5.28	3.41	0.39046	.	0.292269	0.32287	N	0.006319	T	0.38692	0.1050	L	0.61218	1.895	0.39314	D	0.965134	D	0.54207	0.965	P	0.44673	0.457	T	0.32666	-0.9898	10	0.44086	T	0.13	.	5.7851	0.18329	0.1616:0.0:0.6827:0.1556	.	45	P41231	P2RY2_HUMAN	M	45	ENSP00000377222:V45M;ENSP00000310305:V45M;ENSP00000377221:V45M	ENSP00000310305:V45M	V	+	1	0	P2RY2	72622985	1.000000	0.71417	0.995000	0.50966	0.464000	0.32679	3.271000	0.51608	1.234000	0.43709	-0.216000	0.12614	GTG		0.587	P2RY2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397336.1	NM_176072		17	146	0	0	0	0.557998	0	17	146				
GH1	2688	broad.mit.edu	37	17	61995729	61995729	+	Missense_Mutation	SNP	C	C	T	rs544949394		TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr17:61995729C>T	ENST00000323322.5	-	2	190	c.148G>A	c.(148-150)Gcc>Acc	p.A50T	GH1_ENST00000342364.4_Missense_Mutation_p.A50T|CSHL1_ENST00000392824.4_Intron|GH1_ENST00000351388.4_Missense_Mutation_p.A50T|GH1_ENST00000458650.2_Missense_Mutation_p.A50T	NM_000515.3	NP_000506.2	P01241	SOMA_HUMAN	growth hormone 1	50					bone maturation (GO:0070977)|glucose transport (GO:0015758)|growth hormone receptor signaling pathway (GO:0060396)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|positive regulation of activation of JAK2 kinase activity (GO:0010535)|positive regulation of insulin-like growth factor receptor signaling pathway (GO:0043568)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of multicellular organism growth (GO:0040018)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|response to estradiol (GO:0032355)	extracellular region (GO:0005576)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|growth hormone receptor binding (GO:0005131)|metal ion binding (GO:0046872)|prolactin receptor binding (GO:0005148)			breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	19						GTGTCAAAGGCCAGCTGGTGC	0.582																																						ENST00000323322.5																			0				breast(3)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(10)	19						c.(148-150)Gcc>Acc		growth hormone 1							163.0	173.0	170.0					17																	61995729		2203	4300	6503	SO:0001583	missense	2688				glucose transport|growth hormone receptor signaling pathway|JAK-STAT cascade|positive regulation of activation of JAK2 kinase activity|positive regulation of insulin-like growth factor receptor signaling pathway|positive regulation of MAP kinase activity|positive regulation of multicellular organism growth|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|response to estradiol stimulus	extracellular space	growth factor activity|growth hormone receptor binding|hormone activity|metal ion binding|prolactin receptor binding	g.chr17:61995729C>T	M13438	CCDS11653.1, CCDS11654.1, CCDS45760.1	17q22-q24	2014-01-30				ENSG00000259384		"""Endogenous ligands"""	4261	protein-coding gene	gene with protein product	"""pituitary growth hormone"", ""somatotropin"""	139250				6306568	Standard	XM_005257218		Approved	GH-N, GHN, GH, hGH-N	uc002jdj.3	P01241		ENST00000323322.5:c.148G>A	17.37:g.61995729C>T	ENSP00000312673:p.Ala50Thr					CSHL1_ENST00000392824.4_Intron|GH1_ENST00000351388.4_Missense_Mutation_p.A50T|GH1_ENST00000458650.2_Missense_Mutation_p.A50T|GH1_ENST00000342364.4_Missense_Mutation_p.A50T	p.A50T	NM_000515.3	NP_000506.2	P01241	SOMA_HUMAN			2	190	-			50					A6NEF6|Q14405|Q16631|Q5EB53|Q9HBZ1|Q9UMJ7|Q9UNL5	Missense_Mutation	SNP	ENST00000323322.5	37	c.148G>A	CCDS11653.1	.	.	.	.	.	.	.	.	.	.	c	15.18	2.758094	0.49468	.	.	ENSG00000204414	ENST00000323322;ENST00000458650;ENST00000351388;ENST00000342364	D;T;D;D	0.91740	-2.9;0.77;-2.9;-2.9	2.86	2.86	0.33363	Four-helical cytokine-like, core (1);Four-helical cytokine, core (1);	0.168698	0.51477	D	0.000085	D	0.96476	0.8850	H	0.94964	3.605	0.23762	N	0.996911	D;P;D;D;D	0.89917	0.999;0.921;0.999;1.0;1.0	D;B;D;D;D	0.97110	0.993;0.443;0.987;1.0;1.0	D	0.89580	0.3820	10	0.87932	D	0	.	9.3531	0.38151	0.0:1.0:0.0:0.0	.	50;50;50;50;50	C9JYZ1;B1A4G9;A6NEF6;P01241;B1A4G7	.;.;.;SOMA_HUMAN;.	T	50	ENSP00000312673:A50T;ENSP00000408486:A50T;ENSP00000343791:A50T;ENSP00000339278:A50T	ENSP00000312673:A50T	A	-	1	0	GH1	59349461	1.000000	0.71417	1.000000	0.80357	0.839000	0.47603	4.196000	0.58407	1.594000	0.50039	0.298000	0.19748	GCC		0.582	GH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417708.1	NM_000515		63	255	0	0	0	0.870114	0	63	255				
CCDC102A	92922	broad.mit.edu	37	16	57550306	57550306	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr16:57550306C>T	ENST00000258214.2	-	7	1564	c.1318G>A	c.(1318-1320)Gca>Aca	p.A440T		NM_033212.3	NP_149989.2	Q96A19	C102A_HUMAN	coiled-coil domain containing 102A	440										endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						TTGGCATGTGCCAGCTCTGCC	0.632																																						ENST00000258214.2																			0				endometrium(1)|large_intestine(1)|lung(4)|ovary(1)|prostate(1)	8						c.(1318-1320)Gca>Aca		coiled-coil domain containing 102A							59.0	45.0	50.0					16																	57550306		2198	4300	6498	SO:0001583	missense	92922							g.chr16:57550306C>T	BC008285	CCDS10784.1	16q13	2008-02-05			ENSG00000135736	ENSG00000135736			28097	protein-coding gene	gene with protein product						12477932	Standard	NM_033212		Approved	MGC10992	uc002elw.3	Q96A19	OTTHUMG00000133472	ENST00000258214.2:c.1318G>A	16.37:g.57550306C>T	ENSP00000258214:p.Ala440Thr						p.A440T	NM_033212.3	NP_149989.2	Q96A19	C102A_HUMAN			7	1564	-			440					Q9BT74	Missense_Mutation	SNP	ENST00000258214.2	37	c.1318G>A	CCDS10784.1	.	.	.	.	.	.	.	.	.	.	c	13.47	2.245324	0.39697	.	.	ENSG00000135736	ENST00000258214	T	0.78003	-1.14	4.13	3.17	0.36434	.	0.124772	0.53938	U	0.000041	T	0.58133	0.2101	N	0.17082	0.46	0.37190	D	0.903892	B	0.26081	0.141	B	0.22753	0.041	T	0.54984	-0.8211	10	0.27785	T	0.31	-7.1516	7.6255	0.28210	0.0:0.8055:0.0:0.1945	.	440	Q96A19	C102A_HUMAN	T	440	ENSP00000258214:A440T	ENSP00000258214:A440T	A	-	1	0	CCDC102A	56107807	1.000000	0.71417	0.990000	0.47175	0.989000	0.77384	3.024000	0.49674	0.955000	0.37878	0.466000	0.42574	GCA		0.632	CCDC102A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257348.1	NM_033212		3	39	0	0	0	0.115264	0	3	39				
MTUS1	57509	broad.mit.edu	37	8	17581236	17581236	+	Silent	SNP	T	T	G			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr8:17581236T>G	ENST00000262102.6	-	4	2618	c.2394A>C	c.(2392-2394)ggA>ggC	p.G798G	MTUS1_ENST00000544260.1_5'Flank|MTUS1_ENST00000519263.1_Intron|MTUS1_ENST00000381861.3_5'Flank|MTUS1_ENST00000381869.3_Intron	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	798					cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		AGGGGGTGCTTCCTGTCCTCC	0.483																																						ENST00000262102.6																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36						c.(2392-2394)ggA>ggC		microtubule associated tumor suppressor 1							120.0	115.0	116.0					8																	17581236		1946	4134	6080	SO:0001819	synonymous_variant	57509					Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle		g.chr8:17581236T>G	AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"""AT2 receptor-interacting protein"", ""AT2R binding protein"", ""mitochondrial tumor suppressor gene 1"""	609589	"""mitochondrial tumor suppressor 1"""			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.2394A>C	8.37:g.17581236T>G						MTUS1_ENST00000381869.3_Intron|MTUS1_ENST00000519263.1_Intron	p.G798G	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN		Colorectal(111;0.0778)	4	2618	-			798					A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Silent	SNP	ENST00000262102.6	37	c.2394A>C	CCDS43717.1																																																																																				0.483	MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1	XM_372031		14	112	0	0	0	0.435327	0	14	112				
KRTAP4-11	653240	broad.mit.edu	37	17	39274343	39274343	+	Silent	SNP	A	A	G			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr17:39274343A>G	ENST00000391413.2	-	1	263	c.225T>C	c.(223-225)tgT>tgC	p.C75C		NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	keratin associated protein 4-11	75	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		Missing (in allele KAP4.14). {ECO:0000269|PubMed:15955084}.			keratin filament (GO:0045095)				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000371)			AGCTGGGGCGACAGCAGCTGG	0.657																																						ENST00000391413.2																			0				endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|lung(8)|prostate(5)|skin(1)	33						c.(223-225)tgT>tgC		keratin associated protein 4-11																																				SO:0001819	synonymous_variant	653240					keratin filament		g.chr17:39274343A>G	AC025904	CCDS45675.1	17q21.2	2013-06-25			ENSG00000212721	ENSG00000212721		"""Keratin associated proteins"""	18911	protein-coding gene	gene with protein product			"""keratin associated protein 4-14"""	KRTAP4-14			Standard	NM_033059		Approved	KAP4.11, KAP4.14	uc002hvz.3	Q9BYQ6	OTTHUMG00000133586	ENST00000391413.2:c.225T>C	17.37:g.39274343A>G							p.C75C	NM_033059.3	NP_149048.2	Q9BYQ6	KR411_HUMAN	STAD - Stomach adenocarcinoma(17;0.000371)		1	263	-		Breast(137;0.000496)	75		Missing (in allele KAP4.14).	27 X 5 AA repeats of C-C-[GIKRQVHEL]- [SPTR]-[STVQRMC].		A0AUY2	Silent	SNP	ENST00000391413.2	37	c.225T>C	CCDS45675.1																																																																																				0.657	KRTAP4-11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257690.1			4	125	0	0	0	0.248553	0	4	125				
CNGA3	1261	broad.mit.edu	37	2	99006190	99006190	+	Silent	SNP	C	C	T			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr2:99006190C>T	ENST00000272602.2	+	5	558	c.519C>T	c.(517-519)acC>acT	p.T173T	CNGA3_ENST00000393504.1_Silent_p.T173T|CNGA3_ENST00000409937.1_Silent_p.T177T|CNGA3_ENST00000436404.2_Silent_p.T155T			Q16281	CNGA3_HUMAN	cyclic nucleotide gated channel alpha 3	173					cation transport (GO:0006812)|phototransduction, visible light (GO:0007603)|potassium ion transmembrane transport (GO:0071805)|regulation of membrane potential (GO:0042391)|response to cAMP (GO:0051591)|response to corticosteroid (GO:0031960)|response to magnesium ion (GO:0032026)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|transport (GO:0006810)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|perikaryon (GO:0043204)|photoreceptor outer segment membrane (GO:0042622)|transmembrane transporter complex (GO:1902495)	cGMP binding (GO:0030553)|intracellular cAMP activated cation channel activity (GO:0005222)|intracellular cGMP activated cation channel activity (GO:0005223)|ligand-gated ion channel activity (GO:0015276)|voltage-gated potassium channel activity (GO:0005249)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						GCTGGCTGACCGCCATCGCCC	0.557																																						ENST00000393504.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(10)|lung(17)|ovary(5)|prostate(3)|skin(4)|upper_aerodigestive_tract(3)	49						c.(517-519)acC>acT		cyclic nucleotide gated channel alpha 3							127.0	113.0	118.0					2																	99006190		2203	4300	6503	SO:0001819	synonymous_variant	1261				signal transduction|visual perception	integral to membrane	cGMP binding	g.chr2:99006190C>T	S76069	CCDS2034.1, CCDS42719.1	2q11.2	2013-01-08			ENSG00000144191	ENSG00000144191		"""Voltage-gated ion channels / Cyclic nucleotide-regulated channels"""	2150	protein-coding gene	gene with protein product		600053		CNCG3, ACHM2		7532814, 9517456, 16382102	Standard	NM_001298		Approved	CCNC1, CCNCa, CNG3	uc002syt.3	Q16281	OTTHUMG00000130561	ENST00000272602.2:c.519C>T	2.37:g.99006190C>T						CNGA3_ENST00000436404.2_Silent_p.T155T|CNGA3_ENST00000409937.1_Silent_p.T177T|CNGA3_ENST00000272602.2_Silent_p.T173T	p.T173T	NM_001298.2	NP_001289.1	Q16281	CNGA3_HUMAN			6	936	+			173					E9PF93|Q4VAP7|Q53RD2|Q6ZNA7|Q9UP64	Silent	SNP	ENST00000272602.2	37	c.519C>T	CCDS2034.1																																																																																				0.557	CNGA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252986.1	NM_001298		15	116	0	0	0	0.500413	0	15	116				
IDH1	3417	broad.mit.edu	37	2	209113112	209113112	+	Missense_Mutation	SNP	C	C	T	rs121913500		TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr2:209113112C>T	ENST00000415913.1	-	4	776	c.395G>A	c.(394-396)cGt>cAt	p.R132H	IDH1_ENST00000345146.2_Missense_Mutation_p.R132H|IDH1_ENST00000446179.1_Missense_Mutation_p.R132H	NM_001282387.1	NP_001269316.1	O75874	IDHC_HUMAN	isocitrate dehydrogenase 1 (NADP+), soluble	132			R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:19117336}.|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation). {ECO:0000269|PubMed:19117336}.|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:19117336}.|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate). {ECO:0000269|PubMed:18772396}.		2-oxoglutarate metabolic process (GO:0006103)|cellular lipid metabolic process (GO:0044255)|female gonad development (GO:0008585)|glutathione metabolic process (GO:0006749)|glyoxylate cycle (GO:0006097)|isocitrate metabolic process (GO:0006102)|NADPH regeneration (GO:0006740)|response to oxidative stress (GO:0006979)|response to steroid hormone (GO:0048545)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	isocitrate dehydrogenase (NADP+) activity (GO:0004450)|magnesium ion binding (GO:0000287)|NAD binding (GO:0051287)|NADP binding (GO:0050661)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)		NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887				Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)		ATAAGCATGACGACCTATGAT	0.393			Mis		gliobastoma																																Pancreas(158;264 1958 3300 35450 36047)	ENST00000415913.1				Dom	yes		2	2q33.3	3417	Mis	"""isocitrate dehydrogenase 1 (NADP+), soluble"""			O			gliobastoma		2835	Substitution - Missense(2834)|Complex - compound substitution(1)	p.R132H(2774)|p.R132L(59)|p.R132V(1)|p.G131_R132>VL(1)	central_nervous_system(2579)|haematopoietic_and_lymphoid_tissue(205)|bone(43)|prostate(4)|biliary_tract(2)|urinary_tract(1)|skin(1)	NS(1)|autonomic_ganglia(2)|biliary_tract(24)|bone(237)|central_nervous_system(3764)|endometrium(3)|haematopoietic_and_lymphoid_tissue(794)|kidney(2)|large_intestine(7)|lung(7)|prostate(6)|skin(5)|soft_tissue(12)|thyroid(22)|urinary_tract(1)	4887						c.(394-396)cGt>cAt		isocitrate dehydrogenase 1 (NADP+), soluble							79.0	73.0	75.0					2																	209113112		2203	4300	6503	SO:0001583	missense	3417				2-oxoglutarate metabolic process|cellular lipid metabolic process|glyoxylate cycle|isocitrate metabolic process|NADPH regeneration|tricarboxylic acid cycle	cytosol|peroxisomal matrix	isocitrate dehydrogenase (NADP+) activity|magnesium ion binding|NAD binding|protein homodimerization activity	g.chr2:209113112C>T		CCDS2381.1	2q34	2014-09-17			ENSG00000138413	ENSG00000138413	1.1.1.42		5382	protein-coding gene	gene with protein product		147700					Standard	NM_005896		Approved		uc002vcu.3	O75874	OTTHUMG00000132943	ENST00000415913.1:c.395G>A	2.37:g.209113112C>T	ENSP00000390265:p.Arg132His					IDH1_ENST00000446179.1_Missense_Mutation_p.R132H|IDH1_ENST00000345146.2_Missense_Mutation_p.R132H	p.R132H			O75874	IDHC_HUMAN		Epithelial(149;0.0322)|LUSC - Lung squamous cell carcinoma(261;0.0711)|Lung(261;0.136)	4	776	-			132		R -> C (in colorectal cancer and glioma samples; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha- ketoglutarate but instead alpha- ketoglutarate is converted to R(-)-2- hydroxyglutarate).|R -> G (in a glioma sample; glioblastoma multiforme; somatic mutation).|R -> H (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> L (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).|R -> S (in a glioma sample; glioblastoma multiforme; somatic mutation; abolishes magnesium binding and alters enzyme activity so that isocitrate is no longer converted to alpha-ketoglutarate but instead alpha-ketoglutarate is converted to R(-)-2-hydroxyglutarate).			Q567U4|Q6FHQ6|Q7Z3V0|Q93090|Q9NTJ9|Q9UKW8	Missense_Mutation	SNP	ENST00000415913.1	37	c.395G>A	CCDS2381.1	.	.	.	.	.	.	.	.	.	.	C	25.6	4.657324	0.88154	.	.	ENSG00000138413	ENST00000345146;ENST00000446179;ENST00000415913;ENST00000415282	D;D;D;D	0.86956	-2.19;-2.19;-2.19;-2.19	5.57	4.69	0.59074	Isopropylmalate dehydrogenase-like domain (2);	0.000000	0.85682	D	0.000000	D	0.93145	0.7817	H	0.99379	4.54	0.80722	D	1	B	0.25486	0.127	B	0.25405	0.06	D	0.92324	0.5868	10	0.87932	D	0	-20.0399	14.3783	0.66895	0.0:0.9288:0.0:0.0712	.	132	O75874	IDHC_HUMAN	H	132	ENSP00000260985:R132H;ENSP00000410513:R132H;ENSP00000390265:R132H;ENSP00000391075:R132H	ENSP00000260985:R132H	R	-	2	0	IDH1	208821357	1.000000	0.71417	0.997000	0.53966	0.992000	0.81027	6.088000	0.71371	1.356000	0.45884	0.555000	0.69702	CGT		0.393	IDH1-006	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336672.1			22	63	0	0	0	0.681144	0	22	63				
SDK1	221935	broad.mit.edu	37	7	4026875	4026875	+	Silent	SNP	C	C	T	rs550278515		TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr7:4026875C>T	ENST00000404826.2	+	14	2191	c.2052C>T	c.(2050-2052)caC>caT	p.H684H	SDK1_ENST00000389531.3_Silent_p.H684H	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN	sidekick cell adhesion molecule 1	684	Fibronectin type-III 1. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell adhesion (GO:0007155)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)		CCCACAGCCACGCCGTGGTGC	0.458																																						ENST00000404826.2																			0				NS(1)|breast(6)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(42)|lung(55)|ovary(4)|pancreas(1)|prostate(4)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(4)	153						c.(2050-2052)caC>caT		sidekick cell adhesion molecule 1							155.0	150.0	152.0					7																	4026875		2203	4300	6503	SO:0001819	synonymous_variant	221935				cell adhesion	integral to membrane		g.chr7:4026875C>T	AK074077	CCDS34590.1	7p22.3	2013-02-11	2011-12-09		ENSG00000146555	ENSG00000146555		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	19307	protein-coding gene	gene with protein product		607216	"""sidekick homolog 1 (chicken)"", ""sidekick homolog 1, cell adhesion molecule (chicken)"""			12230981, 17307840, 15213259	Standard	NM_001079653		Approved	FLJ31425	uc003smx.3	Q7Z5N4	OTTHUMG00000151733	ENST00000404826.2:c.2052C>T	7.37:g.4026875C>T						SDK1_ENST00000389531.3_Silent_p.H684H	p.H684H	NM_152744.3	NP_689957.3	Q7Z5N4	SDK1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.121)|OV - Ovarian serous cystadenocarcinoma(56;9.65e-15)	14	2191	+		all_cancers(1;0.127)|Ovarian(82;0.0177)|Myeloproliferative disorder(862;0.194)	684			Fibronectin type-III 1.		Q8TEN9|Q8TEP5|Q96N44	Silent	SNP	ENST00000404826.2	37	c.2052C>T	CCDS34590.1																																																																																				0.458	SDK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323702.1	NM_152744		19	157	0	0	0	0.592651	0	19	157				
RBM12B	389677	broad.mit.edu	37	8	94747336	94747336	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr8:94747336C>T	ENST00000399300.2	-	3	1516	c.1303G>A	c.(1303-1305)Gat>Aat	p.D435N	RP11-10N23.4_ENST00000517998.1_RNA|RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Missense_Mutation_p.D435N	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	435	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			CCTTTGTCATCATAAAGCAAG	0.373																																						ENST00000399300.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30						c.(1303-1305)Gat>Aat		RNA binding motif protein 12B							137.0	128.0	131.0					8																	94747336		1862	4095	5957	SO:0001583	missense	389677						nucleotide binding|RNA binding	g.chr8:94747336C>T		CCDS43755.1	8q22	2014-05-20			ENSG00000183808	ENSG00000183808		"""RNA binding motif (RRM) containing"""	32310	protein-coding gene	gene with protein product							Standard	NM_203390		Approved		uc003yfz.3	Q8IXT5	OTTHUMG00000164317	ENST00000399300.2:c.1303G>A	8.37:g.94747336C>T	ENSP00000382239:p.Asp435Asn					RBM12B_ENST00000517700.1_Missense_Mutation_p.D435N|RBM12B_ENST00000520961.1_Intron	p.D435N	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.0168)		3	1516	-	Breast(36;4.14e-07)		435			RRM 3.		A8MYB5	Missense_Mutation	SNP	ENST00000399300.2	37	c.1303G>A	CCDS43755.1	.	.	.	.	.	.	.	.	.	.	C	17.16	3.317984	0.60524	.	.	ENSG00000183808	ENST00000399300;ENST00000517700	T;T	0.10288	2.89;2.89	5.36	3.57	0.40892	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (3);	0.172021	0.40640	N	0.001051	T	0.25232	0.0613	M	0.64567	1.98	0.58432	D	0.999998	D	0.61697	0.99	D	0.65573	0.936	T	0.00909	-1.1518	10	0.28530	T	0.3	-23.1483	12.0058	0.53259	0.0:0.8591:0.0:0.1409	.	435	Q8IXT5	RB12B_HUMAN	N	435	ENSP00000382239:D435N;ENSP00000427729:D435N	ENSP00000382239:D435N	D	-	1	0	RBM12B	94816512	1.000000	0.71417	0.995000	0.50966	0.945000	0.59286	7.445000	0.80570	0.760000	0.33108	-0.229000	0.12294	GAT		0.373	RBM12B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383603.1	NM_203390		32	165	0	0	0	0.750413	0	32	165				
CCDC93	54520	broad.mit.edu	37	2	118731539	118731539	+	Missense_Mutation	SNP	A	A	G	rs374241278		TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr2:118731539A>G	ENST00000376300.2	-	11	970	c.833T>C	c.(832-834)aTt>aCt	p.I278T	CCDC93_ENST00000460781.1_5'UTR|CCDC93_ENST00000319432.5_Missense_Mutation_p.I277T	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN	coiled-coil domain containing 93	278										breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						GAGTCCCACAATCTGGCCCAC	0.537																																						ENST00000376300.2																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(11)|ovary(1)|prostate(2)|skin(2)	29						c.(832-834)aTt>aCt		coiled-coil domain containing 93		A	THR/ILE	0,4406		0,0,2203	61.0	56.0	58.0		833	5.2	1.0	2		58	1,8599	1.2+/-3.3	0,1,4299	no	missense	CCDC93	NM_019044.4	89	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	probably-damaging	278/632	118731539	1,13005	2203	4300	6503	SO:0001583	missense	54520							g.chr2:118731539A>G	BC028609	CCDS2121.2	2q14.1	2008-02-05			ENSG00000125633	ENSG00000125633			25611	protein-coding gene	gene with protein product						12477932	Standard	NM_019044		Approved	FLJ10996	uc002tlj.3	Q567U6	OTTHUMG00000058517	ENST00000376300.2:c.833T>C	2.37:g.118731539A>G	ENSP00000365477:p.Ile278Thr					CCDC93_ENST00000319432.5_Missense_Mutation_p.I277T|CCDC93_ENST00000460781.1_5'UTR	p.I278T	NM_019044.4	NP_061917.3	Q567U6	CCD93_HUMAN			11	970	-			278					A8K3V7|Q4LE78|Q53TJ2|Q8TBX5|Q9H6R5|Q9NV15	Missense_Mutation	SNP	ENST00000376300.2	37	c.833T>C	CCDS2121.2	.	.	.	.	.	.	.	.	.	.	A	20.5	3.993461	0.74703	0.0	1.16E-4	ENSG00000125633	ENST00000376300;ENST00000319432	T;T	0.21361	2.01;2.02	5.16	5.16	0.70880	.	0.000000	0.85682	D	0.000000	T	0.34366	0.0895	M	0.65498	2.005	0.48288	D	0.999622	D	0.60160	0.987	P	0.55455	0.776	T	0.09862	-1.0655	10	0.14252	T	0.57	-13.8756	13.7185	0.62712	1.0:0.0:0.0:0.0	.	278	Q567U6	CCD93_HUMAN	T	278;277	ENSP00000365477:I278T;ENSP00000324135:I277T	ENSP00000324135:I277T	I	-	2	0	CCDC93	118448009	1.000000	0.71417	0.999000	0.59377	0.971000	0.66376	6.589000	0.74080	2.156000	0.67533	0.533000	0.62120	ATT		0.537	CCDC93-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000129615.1	NM_019044		15	11	0	0	0	0.520397	0	15	11				
MEP1A	4224	broad.mit.edu	37	6	46803179	46803179	+	Silent	SNP	C	C	T			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr6:46803179C>T	ENST00000230588.4	+	13	1986	c.1977C>T	c.(1975-1977)ggC>ggT	p.G659G		NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	meprin A, alpha (PABA peptide hydrolase)	659					digestion (GO:0007586)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|meprin A complex (GO:0017090)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42			Lung(136;0.192)			AGAACACAGGCCCCCTGGAGG	0.587																																						ENST00000230588.4																			0				NS(1)|breast(1)|endometrium(5)|kidney(2)|large_intestine(4)|lung(21)|ovary(1)|pancreas(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	42						c.(1975-1977)ggC>ggT		meprin A, alpha (PABA peptide hydrolase)							29.0	25.0	26.0					6																	46803179		2203	4300	6503	SO:0001819	synonymous_variant	4224				digestion|proteolysis	extracellular space|integral to plasma membrane|soluble fraction	metalloendopeptidase activity|zinc ion binding	g.chr6:46803179C>T		CCDS4918.1	6p12-p11	2010-10-18			ENSG00000112818	ENSG00000112818	3.4.24.18		7015	protein-coding gene	gene with protein product		600388				7774936	Standard	NM_005588		Approved	PPHA	uc010jzh.1	Q16819	OTTHUMG00000014790	ENST00000230588.4:c.1977C>T	6.37:g.46803179C>T							p.G659G	NM_005588.2	NP_005579.2	Q16819	MEP1A_HUMAN	Lung(136;0.192)		13	1986	+			659					A2RRM4|B0AZP9|B2RCS2|Q8TDC9|Q9H1R1	Silent	SNP	ENST00000230588.4	37	c.1977C>T	CCDS4918.1																																																																																				0.587	MEP1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040803.1	NM_005588		3	21	0	0	0	0.115264	0	3	21				
SETMAR	6419	broad.mit.edu	37	3	4354791	4354791	+	Silent	SNP	C	C	T			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr3:4354791C>T	ENST00000358065.4	+	2	433	c.366C>T	c.(364-366)tgC>tgT	p.C122C	SETMAR_ENST00000425863.1_Silent_p.C122C|SUMF1_ENST00000534863.1_Intron|SETMAR_ENST00000430981.1_Silent_p.C122C	NM_006515.3	NP_006506.3	Q53H47	SETMR_HUMAN	SET domain and mariner transposase fusion gene	122	Histone-lysine N-methyltransferase.|Pre-SET. {ECO:0000255|PROSITE- ProRule:PRU00157}.				DNA catabolic process, endonucleolytic (GO:0000737)|DNA double-strand break processing (GO:0000729)|DNA integration (GO:0015074)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of chromosome organization (GO:2001251)|positive regulation of double-strand break repair via nonhomologous end joining (GO:2001034)|transposition, DNA-mediated (GO:0006313)	chromosome (GO:0005694)|nucleus (GO:0005634)	endonuclease activity (GO:0004519)|histone-lysine N-methyltransferase activity (GO:0018024)|protein homodimerization activity (GO:0042803)|structure-specific DNA binding (GO:0043566)|transposase activity (GO:0004803)|zinc ion binding (GO:0008270)			endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9		Melanoma(143;0.0657)		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)		ATGTCCTGTGCCGATGCAGTG	0.468								Chromatin Structure																														ENST00000358065.4																			0				endometrium(3)|kidney(2)|large_intestine(2)|lung(1)|ovary(1)	9						c.(364-366)tgC>tgT	Chromatin Structure	SET domain and mariner transposase fusion gene							72.0	64.0	67.0					3																	4354791		2203	4300	6503	SO:0001819	synonymous_variant	6419				DNA integration|DNA repair|transposition, DNA-mediated	chromosome|nucleus	DNA binding|endonuclease activity|histone-lysine N-methyltransferase activity|transposase activity|zinc ion binding	g.chr3:4354791C>T	U80776	CCDS2563.2, CCDS58814.1, CCDS63528.1	3p26.2	2013-01-31			ENSG00000170364	ENSG00000170364			10762	protein-coding gene	gene with protein product		609834				9461395	Standard	NM_006515		Approved	metnase	uc011asp.2	Q53H47	OTTHUMG00000090265	ENST00000358065.4:c.366C>T	3.37:g.4354791C>T						SETMAR_ENST00000430981.1_Silent_p.C122C|SETMAR_ENST00000425863.1_Silent_p.C122C|SUMF1_ENST00000534863.1_Intron	p.C122C	NM_006515.3	NP_006506.3	Q53H47	SETMR_HUMAN		Epithelial(13;0.0025)|OV - Ovarian serous cystadenocarcinoma(96;0.011)|all cancers(10;0.0114)	2	433	+		Melanoma(143;0.0657)	109			Histone-lysine N-methyltransferase.|Pre-SET.		B4DY74|E7EN68|Q13579|Q1G668|Q96F41	Silent	SNP	ENST00000358065.4	37	c.366C>T	CCDS2563.2																																																																																				0.468	SETMAR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206587.4	NM_006515		3	42	0	0	0	0.115264	0	3	42				
TTI2	80185	broad.mit.edu	37	8	33357852	33357852	+	Silent	SNP	C	C	T			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr8:33357852C>T	ENST00000431156.2	-	7	2034	c.1416G>A	c.(1414-1416)cgG>cgA	p.R472R	TTI2_ENST00000520636.1_Silent_p.R441R|MAK16_ENST00000360128.6_3'UTR|TTI2_ENST00000519356.1_5'UTR|TTI2_ENST00000360742.5_Silent_p.R472R	NM_001102401.2	NP_001095871.1	Q6NXR4	TTI2_HUMAN	TELO2 interacting protein 2	472																	TTACCTTTACCCGTCCTTGAG	0.463																																						ENST00000431156.2																			0											c.(1414-1416)cgG>cgA		TELO2 interacting protein 2							78.0	69.0	72.0					8																	33357852		2203	4300	6503	SO:0001819	synonymous_variant	80185						binding	g.chr8:33357852C>T	AK026916	CCDS6090.1	8p12	2011-11-10	2011-11-10	2011-09-22		ENSG00000129696			26262	protein-coding gene	gene with protein product		614426	"""chromosome 8 open reading frame 41"", ""Tel2 interacting protein 2 homolog (S. pombe)"""	C8orf41		20801936, 20810650	Standard	NM_025115		Approved	FLJ23263	uc003xjm.5	Q6NXR4		ENST00000431156.2:c.1416G>A	8.37:g.33357852C>T						TTI2_ENST00000360742.5_Silent_p.R472R|MAK16_ENST00000360128.6_3'UTR|TTI2_ENST00000520636.1_Silent_p.R441R|TTI2_ENST00000519356.1_5'UTR	p.R472R	NM_001102401.2	NP_001095871.1	Q6NXR4	CH041_HUMAN			7	2034	-			472					D3DSV7|Q96IM2|Q9H5N4	Silent	SNP	ENST00000431156.2	37	c.1416G>A	CCDS6090.1																																																																																				0.463	TTI2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376555.1	NM_025115		3	49	0	0	0	0.115264	0	3	49				
GDPD2	54857	broad.mit.edu	37	X	69652495	69652495	+	Missense_Mutation	SNP	A	A	T			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chrX:69652495A>T	ENST00000374382.3	+	14	1773	c.1522A>T	c.(1522-1524)Acc>Tcc	p.T508S	GDPD2_ENST00000453994.2_Missense_Mutation_p.T559S|GDPD2_ENST00000538649.1_Missense_Mutation_p.T429S|GDPD2_ENST00000472623.1_3'UTR|GDPD2_ENST00000536730.1_Missense_Mutation_p.T429S	NM_017711.3	NP_060181.2	Q9HCC8	GDPD2_HUMAN	glycerophosphodiester phosphodiesterase domain containing 2	508					glycerol metabolic process (GO:0006071)|lipid metabolic process (GO:0006629)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	glycerophosphodiester phosphodiesterase activity (GO:0008889)|glycerophosphoinositol inositolphosphodiesterase activity (GO:0047394)|metal ion binding (GO:0046872)			NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22	Renal(35;0.156)					GCTTTTGTGGACCTTCCTCCT	0.488																																						ENST00000453994.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(6)|large_intestine(8)|lung(3)|ovary(2)	22						c.(1675-1677)Acc>Tcc		glycerophosphodiester phosphodiesterase domain containing 2							169.0	140.0	150.0					X																	69652495		2203	4300	6503	SO:0001583	missense	54857				glycerol metabolic process|lipid metabolic process	cytoplasm|cytoskeleton|integral to membrane|plasma membrane	glycerophosphodiester phosphodiesterase activity|glycerophosphoinositol inositolphosphodiesterase activity|metal ion binding	g.chrX:69652495A>T	AK000214	CCDS14402.1, CCDS55437.1, CCDS55438.1	Xq13.1	2011-01-25			ENSG00000130055	ENSG00000130055			25974	protein-coding gene	gene with protein product	"""osteoblast differentiation promoting factor"""					12975309	Standard	NM_017711		Approved	OBDPF, FLJ20207, GDE3	uc011mpk.2	Q9HCC8	OTTHUMG00000021776	ENST00000374382.3:c.1522A>T	X.37:g.69652495A>T	ENSP00000363503:p.Thr508Ser					GDPD2_ENST00000472623.1_3'UTR|GDPD2_ENST00000538649.1_Missense_Mutation_p.T429S|GDPD2_ENST00000536730.1_Missense_Mutation_p.T429S|GDPD2_ENST00000374382.3_Missense_Mutation_p.T508S	p.T559S	NM_001171192.1	NP_001164663.1	Q9HCC8	GDPD2_HUMAN			15	2036	+	Renal(35;0.156)		508					B4DRH4|B4DVC9|Q9NXJ6	Missense_Mutation	SNP	ENST00000374382.3	37	c.1675A>T	CCDS14402.1	.	.	.	.	.	.	.	.	.	.	A	9.523	1.108708	0.20714	.	.	ENSG00000130055	ENST00000453994;ENST00000536730;ENST00000538649;ENST00000374382	T;T;T;T	0.47528	0.84;0.84;0.84;0.84	4.77	2.26	0.28386	.	0.823945	0.11366	N	0.571428	T	0.34135	0.0887	L	0.44542	1.39	0.09310	N	0.999999	B;B	0.16166	0.016;0.004	B;B	0.12156	0.007;0.002	T	0.23261	-1.0193	9	.	.	.	-1.4126	3.409	0.07351	0.5423:0.2:0.2577:0.0	.	559;508	B4DVC9;Q9HCC8	.;GDPD2_HUMAN	S	559;429;429;508	ENSP00000414019:T559S;ENSP00000445982:T429S;ENSP00000444601:T429S;ENSP00000363503:T508S	.	T	+	1	0	GDPD2	69569220	0.857000	0.29778	0.729000	0.30791	0.589000	0.36550	0.813000	0.27225	0.651000	0.30788	0.381000	0.24937	ACC		0.488	GDPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057070.1	NM_017711		28	147	0	0	0	0.740014	0	28	147				
MS4A8	83661	broad.mit.edu	37	11	60476228	60476228	+	Missense_Mutation	SNP	G	G	A	rs201478139		TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr11:60476228G>A	ENST00000300226.2	+	5	711	c.508G>A	c.(508-510)Gac>Aac	p.D170N		NM_031457.1	NP_113645.1	Q9BY19	M4A8_HUMAN	membrane-spanning 4-domains, subfamily A, member 8	170						integral component of membrane (GO:0016021)											TGCCTACCCCGACTATTATCC	0.463																																						ENST00000300226.2																			0											c.(508-510)Gac>Aac		membrane-spanning 4-domains, subfamily A, member 8							146.0	127.0	134.0					11																	60476228		2203	4300	6503	SO:0001583	missense	83661							g.chr11:60476228G>A	AF237905	CCDS7990.1	11q12	2013-03-01	2013-03-01	2013-03-01	ENSG00000166959	ENSG00000166959			13380	protein-coding gene	gene with protein product		606549	"""membrane-spanning 4-domains, subfamily A, member 8B"""	MS4A8B		11245982, 11401424	Standard	NM_031457		Approved	MS4A4, CD20L5	uc001npv.3	Q9BY19	OTTHUMG00000167686	ENST00000300226.2:c.508G>A	11.37:g.60476228G>A	ENSP00000300226:p.Asp170Asn						p.D170N	NM_031457.1	NP_113645.1					5	711	+								Q8TCA5	Missense_Mutation	SNP	ENST00000300226.2	37	c.508G>A	CCDS7990.1	.	.	.	.	.	.	.	.	.	.	A	3.910	-0.020261	0.07634	.	.	ENSG00000166959	ENST00000300226	T	0.02446	4.29	3.83	-7.66	0.01277	.	2.563350	0.02059	N	0.050653	T	0.02807	0.0084	L	0.46670	1.46	0.09310	N	1	B	0.09022	0.002	B	0.04013	0.001	T	0.38001	-0.9681	10	0.17369	T	0.5	-0.2745	5.2848	0.15696	0.3068:0.0994:0.4953:0.0984	.	170	Q9BY19	M4A8B_HUMAN	N	170	ENSP00000300226:D170N	ENSP00000300226:D170N	D	+	1	0	MS4A8B	60232804	0.000000	0.05858	0.000000	0.03702	0.013000	0.08279	-3.635000	0.00408	-3.193000	0.00219	-1.301000	0.01330	GAC		0.463	MS4A8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000395605.1			17	88	0	0	0	0.539581	0	17	88				
RBM12B	389677	broad.mit.edu	37	8	94747893	94747893	+	Missense_Mutation	SNP	C	C	T	rs533252158	byFrequency	TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr8:94747893C>T	ENST00000399300.2	-	3	959	c.746G>A	c.(745-747)aGa>aAa	p.R249K	RP11-10N23.4_ENST00000517998.1_RNA|RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Missense_Mutation_p.R249K	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	249							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TTCTTCAGATCTCCTAAGAAC	0.398																																						ENST00000399300.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30						c.(745-747)aGa>aAa		RNA binding motif protein 12B							144.0	134.0	137.0					8																	94747893		1885	4124	6009	SO:0001583	missense	389677						nucleotide binding|RNA binding	g.chr8:94747893C>T		CCDS43755.1	8q22	2014-05-20			ENSG00000183808	ENSG00000183808		"""RNA binding motif (RRM) containing"""	32310	protein-coding gene	gene with protein product							Standard	NM_203390		Approved		uc003yfz.3	Q8IXT5	OTTHUMG00000164317	ENST00000399300.2:c.746G>A	8.37:g.94747893C>T	ENSP00000382239:p.Arg249Lys					RBM12B_ENST00000517700.1_Missense_Mutation_p.R249K|RBM12B_ENST00000520961.1_Intron	p.R249K	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.0168)		3	959	-	Breast(36;4.14e-07)		249					A8MYB5	Missense_Mutation	SNP	ENST00000399300.2	37	c.746G>A	CCDS43755.1	.	.	.	.	.	.	.	.	.	.	C	12.48	1.952067	0.34471	.	.	ENSG00000183808	ENST00000399300;ENST00000517700	T;T	0.06768	3.26;3.27	5.11	5.11	0.69529	.	0.097942	0.44285	D	0.000478	T	0.06962	0.0177	N	0.25647	0.755	0.25328	N	0.989056	B	0.22683	0.073	B	0.26094	0.066	T	0.25572	-1.0128	10	0.35671	T	0.21	-8.366	9.9428	0.41591	0.0:0.9068:0.0:0.0932	.	249	Q8IXT5	RB12B_HUMAN	K	249	ENSP00000382239:R249K;ENSP00000427729:R249K	ENSP00000382239:R249K	R	-	2	0	RBM12B	94817069	0.958000	0.32768	0.874000	0.34290	0.385000	0.30292	1.624000	0.37018	2.551000	0.86045	0.585000	0.79938	AGA		0.398	RBM12B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383603.1	NM_203390		11	134	0	0	0	0.457914	0	11	134				
ANAPC2	29882	broad.mit.edu	37	9	140079392	140079392	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr9:140079392T>C	ENST00000323927.2	-	4	1025	c.1021A>G	c.(1021-1023)Atc>Gtc	p.I341V		NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	anaphase promoting complex subunit 2	341					anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|mitotic spindle assembly checkpoint (GO:0007094)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of axon extension (GO:0045773)|positive regulation of dendrite morphogenesis (GO:0050775)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic plasticity (GO:0031915)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15	all_cancers(76;0.0926)		STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)		AGCTCCTCGATGCGCAGGCTG	0.701																																						ENST00000323927.2																			0				breast(2)|endometrium(4)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|skin(1)	15						c.(1021-1023)Atc>Gtc		anaphase promoting complex subunit 2							57.0	50.0	52.0					9																	140079392		2201	4299	6500	SO:0001583	missense	29882				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|cyclin catabolic process|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of synapse maturation|positive regulation of synaptic plasticity|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination|regulation of cyclin-dependent protein kinase activity	anaphase-promoting complex|cytosol|nucleoplasm	ubiquitin protein ligase binding|ubiquitin-protein ligase activity	g.chr9:140079392T>C	AB037827	CCDS7033.1	9q34.3	2011-06-15			ENSG00000176248	ENSG00000176248		"""Anaphase promoting complex subunits"""	19989	protein-coding gene	gene with protein product		606946				11739784	Standard	NM_013366		Approved	APC2, KIAA1406	uc004clr.1	Q9UJX6	OTTHUMG00000020983	ENST00000323927.2:c.1021A>G	9.37:g.140079392T>C	ENSP00000314004:p.Ile341Val						p.I341V	NM_013366.3	NP_037498.1	Q9UJX6	ANC2_HUMAN	STAD - Stomach adenocarcinoma(284;0.0698)	OV - Ovarian serous cystadenocarcinoma(145;6.37e-05)|Epithelial(140;0.000858)	4	1025	-	all_cancers(76;0.0926)		341					Q5VSG1|Q96DG5|Q96GG4|Q9P2E1	Missense_Mutation	SNP	ENST00000323927.2	37	c.1021A>G	CCDS7033.1	.	.	.	.	.	.	.	.	.	.	T	18.25	3.581603	0.65992	.	.	ENSG00000176248	ENST00000323927	T	0.02787	4.16	4.38	3.24	0.37175	.	0.053176	0.85682	N	0.000000	T	0.06371	0.0164	M	0.70275	2.135	0.58432	D	0.999997	D;D	0.57571	0.966;0.98	B;P	0.49047	0.395;0.599	T	0.28650	-1.0037	10	0.42905	T	0.14	-15.0472	7.7573	0.28932	0.0:0.1024:0.0:0.8976	.	341;341	Q9UJX6;Q9UJX6-2	ANC2_HUMAN;.	V	341	ENSP00000314004:I341V	ENSP00000314004:I341V	I	-	1	0	ANAPC2	139199213	1.000000	0.71417	0.982000	0.44146	0.979000	0.70002	5.827000	0.69300	0.569000	0.29329	0.379000	0.24179	ATC		0.701	ANAPC2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055315.1	NM_013366		6	43	0	0	0	0.248553	0	6	43				
IDE	3416	broad.mit.edu	37	10	94266256	94266256	+	Silent	SNP	C	C	T			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr10:94266256C>T	ENST00000265986.6	-	10	1325	c.1269G>A	c.(1267-1269)agG>agA	p.R423R		NM_004969.3	NP_004960.2	P14735	IDE_HUMAN	insulin-degrading enzyme	423					beta-amyloid metabolic process (GO:0050435)|bradykinin catabolic process (GO:0010815)|determination of adult lifespan (GO:0008340)|hormone catabolic process (GO:0042447)|insulin catabolic process (GO:1901143)|insulin metabolic process (GO:1901142)|insulin receptor signaling pathway (GO:0008286)|negative regulation of proteolysis (GO:0045861)|positive regulation of protein oligomerization (GO:0032461)|protein heterooligomerization (GO:0051291)|protein homooligomerization (GO:0051260)|protein homotetramerization (GO:0051289)|proteolysis (GO:0006508)|proteolysis involved in cellular protein catabolic process (GO:0051603)|ubiquitin homeostasis (GO:0010992)|viral process (GO:0016032)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|beta-amyloid binding (GO:0001540)|beta-endorphin binding (GO:0031626)|glycoprotein binding (GO:0001948)|insulin binding (GO:0043559)|metalloendopeptidase activity (GO:0004222)|peptide binding (GO:0042277)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)|ubiquitin binding (GO:0043130)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33					"""""""Insulin(DB00071)|Bacitracin(DB00626)|Insulin Regular(DB00030)"""	TGTCTTTAAACCTAAAAGCAA	0.343																																						ENST00000265986.6																			0				breast(2)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(10)|liver(1)|lung(10)|ovary(2)|urinary_tract(2)	33						c.(1267-1269)agG>agA		insulin-degrading enzyme	Bacitracin(DB00626)|Insulin Glargine recombinant(DB00047)|Insulin Lyspro recombinant(DB00046)|Insulin recombinant(DB00030)|Insulin, porcine(DB00071)						132.0	134.0	134.0					10																	94266256		2203	4300	6503	SO:0001819	synonymous_variant	3416				beta-amyloid metabolic process|bradykinin catabolic process|interspecies interaction between organisms|sex differentiation	cell surface|extracellular space|soluble fraction	ATP binding|metalloendopeptidase activity|protein homodimerization activity|signal transducer activity|zinc ion binding	g.chr10:94266256C>T	M21188	CCDS7421.1, CCDS53554.1	10q23-q25	2007-03-27			ENSG00000119912	ENSG00000119912			5381	protein-coding gene	gene with protein product	"""insulysin"""	146680				2293021	Standard	NM_004969		Approved		uc001kia.3	P14735	OTTHUMG00000018759	ENST00000265986.6:c.1269G>A	10.37:g.94266256C>T							p.R423R	NM_004969.3	NP_004960.2	P14735	IDE_HUMAN			10	1325	-			423					B2R721|B7ZAU2|D3DR35|Q5T5N2	Silent	SNP	ENST00000265986.6	37	c.1269G>A	CCDS7421.1																																																																																				0.343	IDE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049393.1	NM_004969		5	115	0	0	0	0.217242	0	5	115				
USP25	29761	broad.mit.edu	37	21	17250117	17250117	+	Silent	SNP	A	A	G			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr21:17250117A>G	ENST00000285679.6	+	23	3171	c.2802A>G	c.(2800-2802)aaA>aaG	p.K934K	USP25_ENST00000400183.2_Silent_p.K1004K|USP25_ENST00000351097.5_Silent_p.K329K|USP25_ENST00000285681.2_Silent_p.K966K	NM_013396.3	NP_037528.3	Q9UHP3	UBP25_HUMAN	ubiquitin specific peptidase 25	934					cellular protein modification process (GO:0006464)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|proteolysis (GO:0006508)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	peptidase activity (GO:0008233)|SUMO binding (GO:0032183)|ubiquitin-specific protease activity (GO:0004843)	p.K934K(1)		breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52				Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)		GCATTAAGAAATTAAATGAGC	0.313																																						ENST00000285681.2																			1	Substitution - coding silent(1)	p.K934K(1)	endometrium(1)	breast(4)|endometrium(6)|kidney(2)|large_intestine(13)|liver(5)|lung(14)|ovary(4)|prostate(1)|skin(1)|urinary_tract(2)	52						c.(2896-2898)aaA>aaG		ubiquitin specific peptidase 25							56.0	57.0	57.0					21																	17250117		2203	4299	6502	SO:0001819	synonymous_variant	29761				protein modification process|ubiquitin-dependent protein catabolic process	cytoplasm|nucleus	ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr21:17250117A>G	AF170562	CCDS33515.1, CCDS63336.1, CCDS63337.1	21q11.2	2011-02-24	2005-08-08		ENSG00000155313	ENSG00000155313		"""Ubiquitin-specific peptidases"""	12624	protein-coding gene	gene with protein product		604736	"""ubiquitin specific protease 25"""			12838346, 10612803	Standard	NM_013396		Approved	USP21	uc002yjy.1	Q9UHP3	OTTHUMG00000074343	ENST00000285679.6:c.2802A>G	21.37:g.17250117A>G						USP25_ENST00000285679.6_Silent_p.K934K|USP25_ENST00000400183.2_Silent_p.K1004K|USP25_ENST00000351097.5_Silent_p.K329K	p.K966K			Q9UHP3	UBP25_HUMAN		Epithelial(23;7.55e-05)|all cancers(11;0.000429)|COAD - Colon adenocarcinoma(22;0.00543)|OV - Ovarian serous cystadenocarcinoma(11;0.00743)|Colorectal(24;0.0116)|Lung(58;0.0853)|LUSC - Lung squamous cell carcinoma(23;0.0889)	24	3267	+			934					C0LSZ0|Q6DHZ9|Q9H9W1	Silent	SNP	ENST00000285679.6	37	c.2898A>G	CCDS33515.1																																																																																				0.313	USP25-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000157964.1			5	9	0	0	0	0.217242	0	5	9				
SIGLEC16	400709	broad.mit.edu	37	19	50475156	50475156	+	RNA	SNP	G	G	A	rs574295570		TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr19:50475156G>A	ENST00000602139.1	+	0	1102							A6NMB1	SIG16_HUMAN	sialic acid binding Ig-like lectin 16 (gene/pseudogene)						cell adhesion (GO:0007155)|innate immune response (GO:0045087)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	carbohydrate binding (GO:0030246)			endometrium(2)|kidney(2)|lung(6)	10						GCCAAAGCCTGCGTCTGGTCT	0.662													G|||	1	0.000199681	0.0	0.0	5008	,	,		16607	0.001		0.0	False		,,,				2504	0.0					ENST00000602139.1																			0				endometrium(2)|kidney(2)|lung(6)	10								sialic acid binding Ig-like lectin 16 (gene/pseudogene)																																						400709							g.chr19:50475156G>A	BC030222		19q13.33	2014-03-20	2008-08-04	2008-08-04	ENSG00000161643	ENSG00000161643		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	24851	protein-coding gene	gene with protein product			"""sialic acid binding Ig-like lectin, pseudogene 16"""	SIGLECP16		11986327, 18629938	Standard	NR_002825		Approved	Siglec-P16	uc002prf.3	A6NMB1	OTTHUMG00000183074		19.37:g.50475156G>A														0	1102	+									RNA	SNP	ENST00000602139.1	37																																																																																						0.662	SIGLEC16-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000464979.1	NR_002825		5	30	0	0	0	0.184627	0	5	30				
OR5H2	79310	broad.mit.edu	37	3	98002530	98002530	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr3:98002530C>T	ENST00000355273.2	+	1	799	c.799C>T	c.(799-801)Cct>Tct	p.P267S	RP11-325B23.2_ENST00000508616.1_lincRNA	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN	olfactory receptor, family 5, subfamily H, member 2	267						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						GTATTTGCGCCCTGCATCTCC	0.398																																						ENST00000355273.2																			0				breast(1)|endometrium(1)|large_intestine(5)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	24						c.(799-801)Cct>Tct		olfactory receptor, family 5, subfamily H, member 2							86.0	82.0	83.0					3																	98002530		2203	4300	6503	SO:0001583	missense	79310				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr3:98002530C>T		CCDS33801.1	3q11.2	2013-09-23			ENSG00000197938	ENSG00000197938		"""GPCR / Class A : Olfactory receptors"""	14752	protein-coding gene	gene with protein product							Standard	NM_001005482		Approved		uc003dsj.1	Q8NGV7	OTTHUMG00000160080	ENST00000355273.2:c.799C>T	3.37:g.98002530C>T	ENSP00000347418:p.Pro267Ser					RP11-325B23.2_ENST00000508616.1_lincRNA	p.P267S	NM_001005482.1	NP_001005482.1	Q8NGV7	OR5H2_HUMAN			1	799	+			267					Q6IF87	Missense_Mutation	SNP	ENST00000355273.2	37	c.799C>T	CCDS33801.1	.	.	.	.	.	.	.	.	.	.	C	7.793	0.711900	0.15306	.	.	ENSG00000197938	ENST00000355273	T	0.00262	8.4	3.03	2.15	0.27550	GPCR, rhodopsin-like superfamily (1);	0.000000	0.39407	U	0.001366	T	0.00328	0.0010	M	0.77103	2.36	0.09310	N	1	P	0.39551	0.678	P	0.48304	0.573	T	0.20273	-1.0280	10	0.72032	D	0.01	.	7.844	0.29414	0.0:0.8682:0.0:0.1318	.	267	Q8NGV7	OR5H2_HUMAN	S	267	ENSP00000347418:P267S	ENSP00000347418:P267S	P	+	1	0	OR5H2	99485220	0.202000	0.23423	0.003000	0.11579	0.007000	0.05969	1.215000	0.32431	0.608000	0.30000	0.411000	0.27672	CCT		0.398	OR5H2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359113.2			11	80	0	0	0	0.411799	0	11	80				
DPP10	57628	broad.mit.edu	37	2	116538514	116538514	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr2:116538514A>G	ENST00000410059.1	+	16	1906	c.1426A>G	c.(1426-1428)Aca>Gca	p.T476A	DPP10_ENST00000393147.2_Missense_Mutation_p.T480A|DPP10_ENST00000409163.1_Missense_Mutation_p.T426A|DPP10_ENST00000310323.8_Missense_Mutation_p.T469A	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919	Q8N608	DPP10_HUMAN	dipeptidyl-peptidase 10 (non-functional)	476						integral component of membrane (GO:0016021)|membrane (GO:0016020)	serine-type peptidase activity (GO:0008236)			breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						AGAACAATGTACATATTTTGA	0.284																																						ENST00000410059.1																			0				breast(4)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(24)|liver(2)|lung(48)|ovary(6)|prostate(1)|skin(5)|soft_tissue(1)	101						c.(1426-1428)Aca>Gca		dipeptidyl-peptidase 10 (non-functional)							114.0	112.0	112.0					2																	116538514		2202	4295	6497	SO:0001583	missense	57628				proteolysis	integral to membrane|membrane fraction	serine-type peptidase activity	g.chr2:116538514A>G	AY172661	CCDS33278.1, CCDS46400.1, CCDS54388.1, CCDS54389.1	2q14.1	2010-05-04	2010-05-04		ENSG00000175497	ENSG00000175497			20823	protein-coding gene	gene with protein product		608209	"""dipeptidylpeptidase 10"", ""dipeptidyl-peptidase 10"""			10819331, 12662155	Standard	NM_020868		Approved	DPRP3	uc002tle.3	Q8N608	OTTHUMG00000153294	ENST00000410059.1:c.1426A>G	2.37:g.116538514A>G	ENSP00000386565:p.Thr476Ala					DPP10_ENST00000310323.8_Missense_Mutation_p.T469A|DPP10_ENST00000393147.2_Missense_Mutation_p.T480A|DPP10_ENST00000409163.1_Missense_Mutation_p.T426A	p.T476A	NM_001178037.1|NM_020868.3	NP_001171508.1|NP_065919.2	Q8N608	DPP10_HUMAN			16	1906	+			476					A8K1Q2|J3KPP2|J3KQ46|Q0GLB8|Q53QT3|Q53S86|Q53SL8|Q53SS4|Q6TTV4|Q86YR9|Q9P236	Missense_Mutation	SNP	ENST00000410059.1	37	c.1426A>G	CCDS46400.1	.	.	.	.	.	.	.	.	.	.	A	14.27	2.484523	0.44147	.	.	ENSG00000175497	ENST00000410059;ENST00000409163;ENST00000393147;ENST00000310323;ENST00000476155	T;T;T;T	0.29397	1.57;1.57;1.57;1.57	5.86	4.71	0.59529	Peptidase S9B, dipeptidylpeptidase IV N-terminal (1);	0.167341	0.48286	D	0.000196	T	0.26557	0.0649	L	0.37507	1.11	0.41269	D	0.986832	B;B;B;B	0.25007	0.095;0.076;0.116;0.116	B;B;B;B	0.32211	0.087;0.109;0.142;0.142	T	0.06127	-1.0844	10	0.42905	T	0.14	-11.1346	9.7899	0.40699	0.9227:0.0:0.0773:0.0	.	469;480;472;476	Q8N608-2;Q0GLB8;Q0GLB9;Q8N608	.;.;.;DPP10_HUMAN	A	476;426;480;469;426	ENSP00000386565:T476A;ENSP00000387038:T426A;ENSP00000376855:T480A;ENSP00000309066:T469A	ENSP00000309066:T469A	T	+	1	0	DPP10	116254984	0.999000	0.42202	0.994000	0.49952	0.984000	0.73092	3.273000	0.51623	1.054000	0.40438	-0.250000	0.11733	ACA		0.284	DPP10-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000330580.4	NM_020868		32	57	0	0	0	0.760397	0	32	57				
RGMA	56963	broad.mit.edu	37	15	93595609	93595609	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr15:93595609G>A	ENST00000329082.7	-	3	530	c.259C>T	c.(259-261)Cgg>Tgg	p.R87W	RGMA_ENST00000556087.1_Missense_Mutation_p.R71W|RGMA_ENST00000557420.1_Intron|RGMA_ENST00000557301.1_Missense_Mutation_p.R95W|RGMA_ENST00000555584.1_5'UTR|RGMA_ENST00000556658.1_5'UTR|RGMA_ENST00000425933.2_Missense_Mutation_p.R71W|RGMA_ENST00000543599.1_Missense_Mutation_p.R71W|RGMA_ENST00000542321.2_Missense_Mutation_p.R71W|RGMA_ENST00000538818.1_5'UTR	NM_020211.2	NP_064596	Q96B86	RGMA_HUMAN	repulsive guidance molecule family member a	87					axon guidance (GO:0007411)|BMP signaling pathway (GO:0030509)|neural tube closure (GO:0001843)|regulation of BMP signaling pathway (GO:0030510)	anchored component of membrane (GO:0031225)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	coreceptor activity (GO:0015026)			breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	9	Lung NSC(78;0.0542)|all_lung(78;0.0786)		BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)			GCCGTCCGCCGCGTGCACAGG	0.677																																						ENST00000329082.7																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(1)|lung(2)|prostate(1)	9						c.(259-261)Cgg>Tgg		repulsive guidance molecule family member a							12.0	14.0	14.0					15																	93595609		2126	4197	6323	SO:0001583	missense	56963				axon guidance	anchored to membrane|endoplasmic reticulum|plasma membrane		g.chr15:93595609G>A	AL390083	CCDS45357.1, CCDS53973.1, CCDS53974.1	15q26.1	2013-11-06	2013-11-06			ENSG00000182175			30308	protein-coding gene	gene with protein product		607362	"""RGM domain family, member A"""			15975920	Standard	NM_020211		Approved	RGM, RGMa	uc010urc.2	Q96B86		ENST00000329082.7:c.259C>T	15.37:g.93595609G>A	ENSP00000330005:p.Arg87Trp					RGMA_ENST00000557301.1_Missense_Mutation_p.R95W|RGMA_ENST00000542321.2_Missense_Mutation_p.R71W|RGMA_ENST00000543599.1_Missense_Mutation_p.R71W|RGMA_ENST00000538818.1_5'UTR|RGMA_ENST00000425933.2_Missense_Mutation_p.R71W|RGMA_ENST00000557420.1_Intron|RGMA_ENST00000556658.1_5'UTR|RGMA_ENST00000556087.1_Missense_Mutation_p.R71W|RGMA_ENST00000555584.1_5'UTR	p.R87W	NM_020211.2	NP_064596.2	Q96B86	RGMA_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0312)|OV - Ovarian serous cystadenocarcinoma(32;0.108)		3	530	-	Lung NSC(78;0.0542)|all_lung(78;0.0786)		87					B2RTW1|B7Z5S8|F5GXQ7|F5GZU6|G3V518|Q0JV97|Q8NC80|Q9H0E6|Q9NPM3	Missense_Mutation	SNP	ENST00000329082.7	37	c.259C>T	CCDS45357.1	.	.	.	.	.	.	.	.	.	.	G	31	5.076724	0.94000	.	.	ENSG00000182175	ENST00000543599;ENST00000425933;ENST00000329082;ENST00000542321;ENST00000557301;ENST00000555598	D;D;D;D;D;D	0.97752	-4.52;-4.52;-4.52;-4.52;-4.52;-4.52	5.15	5.15	0.70609	Repulsive guidance molecule, N-terminal (1);	0.000000	0.85682	D	0.000000	D	0.98495	0.9498	M	0.73962	2.25	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.67725	0.921;0.953	D	0.99813	1.1042	10	0.87932	D	0	-0.7563	18.2064	0.89855	0.0:0.0:1.0:0.0	.	95;87	G3V518;Q96B86	.;RGMA_HUMAN	W	71;71;87;71;95;71	ENSP00000442498:R71W;ENSP00000404442:R71W;ENSP00000330005:R87W;ENSP00000440025:R71W;ENSP00000452126:R95W;ENSP00000451709:R71W	ENSP00000330005:R87W	R	-	1	2	RGMA	91396613	1.000000	0.71417	0.998000	0.56505	0.967000	0.64934	4.399000	0.59703	2.409000	0.81822	0.462000	0.41574	CGG		0.677	RGMA-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000415091.1	NM_020211		4	29	0	0	0	0.184627	0	4	29				
ZC3HAV1L	92092	broad.mit.edu	37	7	138711561	138711561	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr7:138711561G>C	ENST00000275766.1	-	4	790	c.779C>G	c.(778-780)aCt>aGt	p.T260S		NM_080660.3	NP_542391.2	Q96H79	ZCCHL_HUMAN	zinc finger CCCH-type, antiviral 1-like	260										NS(2)|endometrium(2)|large_intestine(1)|lung(4)|skin(1)	10						TGAATGCTCAGTCGAAGGTGA	0.517																																						ENST00000275766.1																			0				NS(2)|endometrium(2)|large_intestine(1)|lung(4)|skin(1)	10						c.(778-780)aCt>aGt		zinc finger CCCH-type, antiviral 1-like							72.0	75.0	74.0					7																	138711561		2203	4300	6503	SO:0001583	missense	92092							g.chr7:138711561G>C	BC008842	CCDS5850.1	7q34	2006-07-03	2006-07-03	2006-07-03	ENSG00000146858	ENSG00000146858			22423	protein-coding gene	gene with protein product			"""chromosome 7 open reading frame 39"""	C7orf39			Standard	NM_080660		Approved	MGC14289	uc003vum.1	Q96H79	OTTHUMG00000157229	ENST00000275766.1:c.779C>G	7.37:g.138711561G>C	ENSP00000275766:p.Thr260Ser						p.T260S	NM_080660.3	NP_542391.2	Q96H79	ZCCHL_HUMAN			4	790	-			260					Q8WUD9	Missense_Mutation	SNP	ENST00000275766.1	37	c.779C>G	CCDS5850.1	.	.	.	.	.	.	.	.	.	.	G	1.185	-0.636984	0.03557	.	.	ENSG00000146858	ENST00000275766	T	0.30182	1.54	3.93	3.05	0.35203	.	0.899723	0.09304	N	0.820478	T	0.15825	0.0381	N	0.14661	0.345	0.09310	N	1	B	0.19200	0.034	B	0.17098	0.017	T	0.28618	-1.0038	10	0.07482	T	0.82	.	7.6096	0.28122	0.1137:0.0:0.8863:0.0	.	260	Q96H79	ZCCHL_HUMAN	S	260	ENSP00000275766:T260S	ENSP00000275766:T260S	T	-	2	0	ZC3HAV1L	138362101	0.105000	0.21958	0.095000	0.20976	0.042000	0.13812	1.357000	0.34090	1.237000	0.43756	0.561000	0.74099	ACT		0.517	ZC3HAV1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348090.1	NM_080660		9	49	0	0	0	0.307466	0	9	49				
TENM1	10178	broad.mit.edu	37	X	123785888	123785888	+	Silent	SNP	G	G	A			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chrX:123785888G>A	ENST00000371130.3	-	8	1518	c.1455C>T	c.(1453-1455)aaC>aaT	p.N485N	TENM1_ENST00000422452.2_Silent_p.N485N	NM_014253.3	NP_055068.2	Q9UKZ4	TEN1_HUMAN	teneurin transmembrane protein 1	485					immune response (GO:0006955)|negative regulation of cell proliferation (GO:0008285)|nervous system development (GO:0007399)|neuropeptide signaling pathway (GO:0007218)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of filopodium assembly (GO:0051491)|positive regulation of intracellular protein transport (GO:0090316)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of transcription from RNA polymerase III promoter (GO:0006359)|response to stress (GO:0006950)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|nuclear matrix (GO:0016363)|nuclear speck (GO:0016607)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	heparin binding (GO:0008201)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)										TTAAGATCAGGTTCCGAGGGG	0.433																																						ENST00000422452.2																			0											c.(1453-1455)aaC>aaT		teneurin transmembrane protein 1							152.0	135.0	141.0					X																	123785888		2203	4300	6503	SO:0001819	synonymous_variant	10178							g.chrX:123785888G>A	AF100772	CCDS14609.1, CCDS55488.1	Xq25	2012-10-02	2012-10-02	2012-10-02	ENSG00000009694	ENSG00000009694			8117	protein-coding gene	gene with protein product		300588	"""tenascin M"", ""odz, odd Oz/ten-m homolog 1 (Drosophila)"""	ODZ3, TNM, ODZ1		10331952, 10341219	Standard	NM_001163278		Approved	TEN-M1	uc010nqy.3	Q9UKZ4	OTTHUMG00000022721	ENST00000371130.3:c.1455C>T	X.37:g.123785888G>A						TENM1_ENST00000371130.3_Silent_p.N485N	p.N485N	NM_001163278.1|NM_001163279.1	NP_001156750.1|NP_001156751.1					8	1518	-								B2RTR5|Q5JZ17	Silent	SNP	ENST00000371130.3	37	c.1455C>T	CCDS14609.1																																																																																				0.433	TENM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058985.1	NM_014253		8	55	0	0	0	0.278610	0	8	55				
KIF17	57576	broad.mit.edu	37	1	20992723	20992723	+	Silent	SNP	G	G	A	rs528089648		TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr1:20992723G>A	ENST00000247986.2	-	14	3205	c.2895C>T	c.(2893-2895)gaC>gaT	p.D965D	KIF17_ENST00000490034.1_5'UTR|KIF17_ENST00000375044.1_Silent_p.D865D|KIF17_ENST00000400463.3_Silent_p.D964D			Q9P2E2	KIF17_HUMAN	kinesin family member 17	965					ATP catabolic process (GO:0006200)|cell projection organization (GO:0030030)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|neurogenesis (GO:0022008)|protein complex localization (GO:0031503)|protein transport (GO:0015031)|vesicle-mediated transport (GO:0016192)	cytoplasm (GO:0005737)|intraciliary transport particle B (GO:0030992)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|plus-end-directed microtubule motor activity (GO:0008574)			NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)		TCTTCCTGGCGTCTGTGCTGA	0.577													G|||	1	0.000199681	0.0	0.0	5008	,	,		18274	0.0		0.0	False		,,,				2504	0.001					ENST00000247986.2																			0				NS(2)|endometrium(3)|kidney(3)|large_intestine(9)|liver(1)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	50						c.(2893-2895)gaC>gaT		kinesin family member 17							176.0	148.0	157.0					1																	20992723		2203	4300	6503	SO:0001819	synonymous_variant	57576				microtubule-based movement|protein transport	cytoplasm|microtubule	ATP binding	g.chr1:20992723G>A	AB037826	CCDS213.1, CCDS44079.1, CCDS72722.1	1p36.13	2012-08-01			ENSG00000117245	ENSG00000117245		"""Kinesins"""	19167	protein-coding gene	gene with protein product	"""kinesin-like protein KIF17"", ""KIF3-related motor protein"", ""KIF17 variant protein"""	605037				10846156	Standard	XR_241202		Approved	KIAA1405, KIF3X, KIF17B, OSM-3, KLP-2	uc001bdr.4	Q9P2E2	OTTHUMG00000002863	ENST00000247986.2:c.2895C>T	1.37:g.20992723G>A						KIF17_ENST00000375044.1_Silent_p.D865D|KIF17_ENST00000400463.3_Silent_p.D964D|KIF17_ENST00000490034.1_5'UTR	p.D965D			Q9P2E2	KIF17_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0185)|COAD - Colon adenocarcinoma(152;1.43e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000168)|Kidney(64;0.000221)|GBM - Glioblastoma multiforme(114;0.000651)|KIRC - Kidney renal clear cell carcinoma(64;0.0031)|STAD - Stomach adenocarcinoma(196;0.00336)|READ - Rectum adenocarcinoma(331;0.0686)|Lung(427;0.209)	14	3205	-		all_lung(284;2.99e-05)|Lung NSC(340;3.26e-05)|Colorectal(325;3.46e-05)|Renal(390;9.67e-05)|Breast(348;0.00179)|Ovarian(437;0.00327)|Myeloproliferative disorder(586;0.0255)	965					A2A3Q7|A2A3Q8|O95077|Q53YS6|Q5VWA9|Q6GSA8|Q8N411	Silent	SNP	ENST00000247986.2	37	c.2895C>T	CCDS213.1																																																																																				0.577	KIF17-009	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000276995.1	NM_020816		4	104	0	0	0	0.184627	0	4	104				
TEF	7008	broad.mit.edu	37	22	41783620	41783620	+	Silent	SNP	A	A	G			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr22:41783620A>G	ENST00000266304.4	+	2	539	c.423A>G	c.(421-423)ccA>ccG	p.P141P	TEF_ENST00000406644.3_Silent_p.P111P	NM_003216.3	NP_003207.1	Q10587	TEF_HUMAN	thyrotrophic embryonic factor	141					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	double-stranded DNA binding (GO:0003690)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			kidney(1)|large_intestine(2)|lung(2)|ovary(1)	6						CAGCATCCCCACCATCCTCCT	0.612																																						ENST00000266304.4																			0				kidney(1)|large_intestine(2)|lung(2)|ovary(1)	6						c.(421-423)ccA>ccG		thyrotrophic embryonic factor							86.0	62.0	70.0					22																	41783620		2203	4300	6503	SO:0001819	synonymous_variant	7008				rhythmic process	nucleus	protein dimerization activity|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity	g.chr22:41783620A>G		CCDS14014.1, CCDS46716.1	22q13.2	2013-01-10			ENSG00000167074	ENSG00000167074		"""basic leucine zipper proteins"""	11722	protein-coding gene	gene with protein product		188595				7835883, 15665112	Standard	NM_001145398		Approved	KIAA1655	uc003azy.4	Q10587	OTTHUMG00000150968	ENST00000266304.4:c.423A>G	22.37:g.41783620A>G						TEF_ENST00000406644.3_Silent_p.P111P	p.P141P	NM_003216.3	NP_003207.1	Q10587	TEF_HUMAN			2	539	+			141					B0QYS8|B2RC22|Q15729|Q7Z3J7|Q8IU94|Q96TG4	Silent	SNP	ENST00000266304.4	37	c.423A>G	CCDS14014.1	.	.	.	.	.	.	.	.	.	.	a	8.178	0.793190	0.16327	.	.	ENSG00000167074	ENST00000413942	.	.	.	5.34	-4.06	0.03986	.	.	.	.	.	T	0.39279	0.1072	.	.	.	0.50813	D	0.999895	.	.	.	.	.	.	T	0.30534	-0.9975	4	.	.	.	-3.9108	2.9105	0.05736	0.3123:0.2925:0.3002:0.095	.	.	.	.	R	107	.	.	H	+	2	0	TEF	40113566	0.003000	0.15002	0.337000	0.25536	0.930000	0.56654	-1.023000	0.03607	-1.409000	0.02038	-0.359000	0.07587	CAC		0.612	TEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320692.1	NM_003216		25	44	0	0	0	0.667858	0	25	44				
TRIM32	22954	broad.mit.edu	37	9	119461244	119461244	+	Missense_Mutation	SNP	G	G	A	rs183136193		TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr9:119461244G>A	ENST00000450136.1	+	2	1384	c.1223G>A	c.(1222-1224)cGc>cAc	p.R408H	ASTN2_ENST00000361209.2_Intron|TRIM32_ENST00000373983.2_Missense_Mutation_p.R408H|ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000313400.4_Intron|ASTN2_ENST00000373996.3_Intron	NM_001099679.1|NM_012210.3	NP_001093149.1|NP_036342.2	Q13049	TRI32_HUMAN	tripartite motif containing 32	408			R -> C (in dbSNP:rs3747835).		fat cell differentiation (GO:0045444)|innate immune response (GO:0045087)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of viral release from host cell (GO:1902187)|negative regulation of viral transcription (GO:0032897)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell growth (GO:0030307)|positive regulation of cell migration (GO:0030335)|positive regulation of cell motility (GO:2000147)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of neurogenesis (GO:0050769)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of proteolysis (GO:0045862)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of type I interferon production (GO:0032481)|protein polyubiquitination (GO:0000209)|protein ubiquitination (GO:0016567)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)|regulation of type I interferon production (GO:0032479)|response to tumor necrosis factor (GO:0034612)|response to UV (GO:0009411)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|striated muscle myosin thick filament (GO:0005863)	ligase activity (GO:0016874)|myosin binding (GO:0017022)|protein self-association (GO:0043621)|RNA binding (GO:0003723)|Tat protein binding (GO:0030957)|transcription coactivator activity (GO:0003713)|translation initiation factor binding (GO:0031369)|ubiquitin binding (GO:0043130)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						AAGGAAATCCGCCGCAGCCCC	0.517																																					Esophageal Squamous(92;212 1916 19711 26951)	ENST00000450136.1																			0				breast(1)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(5)|liver(1)|lung(6)|prostate(1)|skin(2)|urinary_tract(1)	26						c.(1222-1224)cGc>cAc		tripartite motif containing 32							97.0	104.0	102.0					9																	119461244		2203	4300	6503	SO:0001583	missense	22954				fat cell differentiation|innate immune response|negative regulation of apoptosis|negative regulation of fibroblast proliferation|positive regulation of cell cycle|positive regulation of cell growth|positive regulation of cell migration|positive regulation of neurogenesis|positive regulation of neuron differentiation|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein catabolic process|positive regulation of proteolysis|protein polyubiquitination|protein ubiquitination involved in ubiquitin-dependent protein catabolic process|response to tumor necrosis factor|response to UV	nucleus	myosin binding|protein self-association|RNA binding|Tat protein binding|transcription coactivator activity|translation initiation factor binding|ubiquitin binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:119461244G>A	U18543	CCDS6817.1	9q33.1	2014-09-17	2011-01-25		ENSG00000119401	ENSG00000119401		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16380	protein-coding gene	gene with protein product		602290	"""limb girdle muscular dystrophy 2H (autosomal recessive)"", ""tripartite motif-containing 32"""	LGMD2H		11331580, 7778269, 16606853	Standard	NM_001099679		Approved	HT2A, TATIP, BBS11	uc004bjx.2	Q13049	OTTHUMG00000021026	ENST00000450136.1:c.1223G>A	9.37:g.119461244G>A	ENSP00000408292:p.Arg408His					ASTN2_ENST00000373996.3_Intron|ASTN2_ENST00000313400.4_Intron|ASTN2_ENST00000361477.3_Intron|ASTN2_ENST00000361209.2_Intron|TRIM32_ENST00000373983.2_Missense_Mutation_p.R408H	p.R408H	NM_001099679.1|NM_012210.3	NP_001093149.1|NP_036342.2	Q13049	TRI32_HUMAN			2	1384	+			408		R -> C (in dbSNP:rs3747835).			Q9NQP8	Missense_Mutation	SNP	ENST00000450136.1	37	c.1223G>A	CCDS6817.1	1	4.578754578754579E-4	0	0.0	0	0.0	0	0.0	1	0.0013192612137203166	G	16.19	3.051909	0.55218	.	.	ENSG00000119401	ENST00000450136;ENST00000373983	D;D	0.90444	-2.67;-2.67	5.47	5.47	0.80525	Six-bladed beta-propeller, TolB-like (1);	0.000000	0.85682	D	0.000000	D	0.83519	0.5272	N	0.24115	0.695	0.80722	D	1	B	0.30709	0.291	B	0.13407	0.009	T	0.80369	-0.1411	9	.	.	.	-19.2882	19.3288	0.94275	0.0:0.0:1.0:0.0	.	408	Q13049	TRI32_HUMAN	H	408	ENSP00000408292:R408H;ENSP00000363095:R408H	.	R	+	2	0	TRIM32	118501065	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.592000	0.82676	2.551000	0.86045	0.650000	0.86243	CGC		0.517	TRIM32-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055466.2	NM_012210		84	101	0	0	0	0.870114	0	84	101				
RBM12B	389677	broad.mit.edu	37	8	94747027	94747027	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr8:94747027C>G	ENST00000399300.2	-	3	1825	c.1612G>C	c.(1612-1614)Gat>Cat	p.D538H	RP11-10N23.4_ENST00000517998.1_RNA|RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Missense_Mutation_p.D538H	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	538							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TTGAAGTTATCCAGTTGCCTC	0.493																																						ENST00000399300.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30						c.(1612-1614)Gat>Cat		RNA binding motif protein 12B							104.0	101.0	102.0					8																	94747027		1880	4108	5988	SO:0001583	missense	389677						nucleotide binding|RNA binding	g.chr8:94747027C>G		CCDS43755.1	8q22	2014-05-20			ENSG00000183808	ENSG00000183808		"""RNA binding motif (RRM) containing"""	32310	protein-coding gene	gene with protein product							Standard	NM_203390		Approved		uc003yfz.3	Q8IXT5	OTTHUMG00000164317	ENST00000399300.2:c.1612G>C	8.37:g.94747027C>G	ENSP00000382239:p.Asp538His					RBM12B_ENST00000517700.1_Missense_Mutation_p.D538H|RBM12B_ENST00000520961.1_Intron	p.D538H	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.0168)		3	1825	-	Breast(36;4.14e-07)		538					A8MYB5	Missense_Mutation	SNP	ENST00000399300.2	37	c.1612G>C	CCDS43755.1	.	.	.	.	.	.	.	.	.	.	C	13.15	2.149997	0.37923	.	.	ENSG00000183808	ENST00000399300;ENST00000517700	T;T	0.06849	3.25;3.25	4.98	4.11	0.48088	.	0.428461	0.22121	N	0.064321	T	0.08088	0.0202	N	0.19112	0.55	0.09310	N	1	P	0.41313	0.745	B	0.44224	0.444	T	0.15780	-1.0425	10	0.62326	D	0.03	-12.0989	11.2395	0.48962	0.0:0.9112:0.0:0.0888	.	538	Q8IXT5	RB12B_HUMAN	H	538	ENSP00000382239:D538H;ENSP00000427729:D538H	ENSP00000382239:D538H	D	-	1	0	RBM12B	94816203	0.008000	0.16893	0.077000	0.20336	0.979000	0.70002	1.518000	0.35877	1.456000	0.47831	0.655000	0.94253	GAT		0.493	RBM12B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383603.1	NM_203390		19	122	0	0	0	0.557998	0	19	122				
FLNC	2318	broad.mit.edu	37	7	128488741	128488741	+	Silent	SNP	G	G	A	rs541323590		TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr7:128488741G>A	ENST00000325888.8	+	27	4968	c.4707G>A	c.(4705-4707)gcG>gcA	p.A1569A	RP11-309L24.2_ENST00000469965.1_RNA|FLNC_ENST00000346177.6_Silent_p.A1569A	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN	filamin C, gamma	1569					cell junction assembly (GO:0034329)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|cytoskeletal protein binding (GO:0008092)			biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						CACGGGACGCGGGCGAGGGGT	0.657																																						ENST00000325888.8																			0				biliary_tract(1)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(19)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(19)|lung(59)|ovary(2)|pancreas(2)|prostate(1)|skin(6)|upper_aerodigestive_tract(2)	128						c.(4705-4707)gcG>gcA		filamin C, gamma							103.0	113.0	110.0					7																	128488741		2091	4215	6306	SO:0001819	synonymous_variant	2318				cell junction assembly	cytoskeleton|cytosol|plasma membrane|sarcomere	actin binding	g.chr7:128488741G>A	AB208865	CCDS43644.1, CCDS47705.1	7q32-q35	2014-09-17	2009-07-23		ENSG00000128591	ENSG00000128591			3756	protein-coding gene	gene with protein product	"""actin binding protein 280"""	102565	"""filamin C, gamma (actin binding protein 280)"""	FLN2		7689010, 8088838	Standard	NM_001458		Approved	ABP-280, ABPL	uc003vnz.4	Q14315	OTTHUMG00000023627	ENST00000325888.8:c.4707G>A	7.37:g.128488741G>A						FLNC_ENST00000346177.6_Silent_p.A1569A	p.A1569A	NM_001458.4	NP_001449.3	Q14315	FLNC_HUMAN			27	4968	+			1569					B2ZZ88|O95303|Q07985|Q9NS12|Q9NYE5|Q9UMR8|Q9Y503	Silent	SNP	ENST00000325888.8	37	c.4707G>A	CCDS43644.1																																																																																				0.657	FLNC-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059948.3			4	184	0	0	0	0.150653	0	4	184				
NAP1L3	4675	broad.mit.edu	37	X	92927163	92927163	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chrX:92927163C>T	ENST00000373079.3	-	1	1404	c.1141G>A	c.(1141-1143)Gca>Aca	p.A381T	NAP1L3_ENST00000475430.2_Missense_Mutation_p.A374T|FAM133A_ENST00000355813.5_5'Flank|FAM133A_ENST00000322139.4_5'Flank|FAM133A_ENST00000332647.4_5'Flank|FAM133A_ENST00000538690.1_5'Flank	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN	nucleosome assembly protein 1-like 3	381					nucleosome assembly (GO:0006334)	nucleus (GO:0005634)				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						TCTGGTTTTGCCTTTATTATA	0.403																																						ENST00000373079.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(9)|lung(16)|ovary(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	34						c.(1141-1143)Gca>Aca		nucleosome assembly protein 1-like 3							45.0	37.0	40.0					X																	92927163		2203	4300	6503	SO:0001583	missense	4675				nucleosome assembly	chromatin assembly complex		g.chrX:92927163C>T		CCDS14465.1	Xq21.3-q22	2008-08-01			ENSG00000186310	ENSG00000186310			7639	protein-coding gene	gene with protein product		300117				8976385	Standard	NM_004538		Approved	MB20, NPL3, MGC26312	uc004efq.3	Q99457	OTTHUMG00000021974	ENST00000373079.3:c.1141G>A	X.37:g.92927163C>T	ENSP00000362171:p.Ala381Thr					NAP1L3_ENST00000475430.1_5'UTR	p.A381T	NM_004538.5	NP_004529.2	Q99457	NP1L3_HUMAN			1	1404	-			381					B2RCM0|O60788	Missense_Mutation	SNP	ENST00000373079.3	37	c.1141G>A	CCDS14465.1	.	.	.	.	.	.	.	.	.	.	A	17.33	3.362934	0.61403	.	.	ENSG00000186310	ENST00000373079;ENST00000543136	T	0.25912	1.77	3.28	2.05	0.26809	.	0.000000	0.85682	D	0.000000	T	0.10121	0.0248	N	0.04508	-0.205	0.09310	N	0.999995	B	0.12630	0.006	B	0.18263	0.021	T	0.20739	-1.0266	10	0.44086	T	0.13	.	4.4865	0.11792	0.6066:0.1984:0.0:0.195	.	381	Q99457	NP1L3_HUMAN	T	381;374	ENSP00000362171:A381T	ENSP00000362171:A381T	A	-	1	0	NAP1L3	92813819	0.997000	0.39634	0.047000	0.18901	0.912000	0.54170	2.933000	0.48948	0.047000	0.15862	-0.408000	0.06270	GCA		0.403	NAP1L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057449.1	NM_004538		6	40	0	0	0	0.217242	0	6	40				
TYRO3	7301	broad.mit.edu	37	15	41865634	41865634	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr15:41865634C>T	ENST00000263798.3	+	17	2338	c.2114C>T	c.(2113-2115)gCc>gTc	p.A705V	TYRO3_ENST00000559066.1_Missense_Mutation_p.A660V	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN	TYRO3 protein tyrosine kinase	705	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				apoptotic cell clearance (GO:0043277)|cell adhesion (GO:0007155)|forebrain cell migration (GO:0021885)|natural killer cell differentiation (GO:0001779)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of lymphocyte activation (GO:0051250)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of toll-like receptor signaling pathway (GO:0034122)|neuron cellular homeostasis (GO:0070050)|ovulation cycle (GO:0042698)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol 3-kinase signaling (GO:0014065)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein autophosphorylation (GO:0046777)|protein kinase B signaling (GO:0043491)|secretion by cell (GO:0032940)|signal transduction (GO:0007165)|signal transduction by phosphorylation (GO:0023014)|spermatogenesis (GO:0007283)|substrate adhesion-dependent cell spreading (GO:0034446)|vagina development (GO:0060068)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|nucleus (GO:0005634)	ATP binding (GO:0005524)|phosphatidylinositol 3-kinase binding (GO:0043548)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine kinase activity (GO:0004716)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)			central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)		GAGAGCCTGGCCGACAACCTG	0.582																																						ENST00000263798.3																			0				central_nervous_system(1)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(26)|ovary(3)|prostate(1)	43						c.(2113-2115)gCc>gTc		TYRO3 protein tyrosine kinase							106.0	109.0	108.0					15																	41865634		2203	4300	6503	SO:0001583	missense	7301					integral to plasma membrane	ATP binding|receptor signaling protein tyrosine kinase activity|transmembrane receptor protein tyrosine kinase activity	g.chr15:41865634C>T	D50479	CCDS10080.1	15q15.1-q21.1	2013-02-11			ENSG00000092445	ENSG00000092445	2.7.10.1	"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12446	protein-coding gene	gene with protein product		600341		RSE		7851890	Standard	NM_006293		Approved	Dtk, Brt, Tif, Sky	uc001zof.2	Q06418	OTTHUMG00000130341	ENST00000263798.3:c.2114C>T	15.37:g.41865634C>T	ENSP00000263798:p.Ala705Val					TYRO3_ENST00000559066.1_Missense_Mutation_p.A660V	p.A705V	NM_006293.3	NP_006284.2	Q06418	TYRO3_HUMAN		OV - Ovarian serous cystadenocarcinoma(18;3.31e-18)|GBM - Glioblastoma multiforme(113;9.31e-07)|BRCA - Breast invasive adenocarcinoma(123;0.117)	17	2338	+		all_cancers(109;7.33e-15)|all_epithelial(112;2.8e-12)|Lung NSC(122;3.48e-08)|all_lung(180;1.71e-07)|Melanoma(134;0.0262)	705			Protein kinase.		O14953|Q86VR3	Missense_Mutation	SNP	ENST00000263798.3	37	c.2114C>T	CCDS10080.1	.	.	.	.	.	.	.	.	.	.	C	34	5.365726	0.95900	.	.	ENSG00000092445	ENST00000540218;ENST00000263798	D	0.82984	-1.67	5.4	5.4	0.78164	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.000000	0.40302	N	0.001125	D	0.85673	0.5751	N	0.20845	0.615	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	D	0.86443	0.1768	10	0.45353	T	0.12	-11.266	19.1858	0.93644	0.0:1.0:0.0:0.0	.	705	Q06418	TYRO3_HUMAN	V	637;705	ENSP00000263798:A705V	ENSP00000263798:A705V	A	+	2	0	TYRO3	39652926	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.818000	0.86416	2.531000	0.85337	0.655000	0.94253	GCC		0.582	TYRO3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252693.2			4	172	0	0	0	0.150653	0	4	172				
VPS13C	54832	broad.mit.edu	37	15	62254029	62254029	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr15:62254029C>T	ENST00000261517.5	-	35	3740	c.3667G>A	c.(3667-3669)Gaa>Aaa	p.E1223K	VPS13C_ENST00000395896.4_Missense_Mutation_p.E1223K|VPS13C_ENST00000395898.3_Missense_Mutation_p.E1180K|VPS13C_ENST00000249837.3_Missense_Mutation_p.E1180K	NM_020821.2	NP_065872.1			vacuolar protein sorting 13 homolog C (S. cerevisiae)											NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						GCAGCCCTTTCTGCAGCCTGG	0.448																																						ENST00000261517.5																			0				NS(3)|breast(4)|endometrium(4)|kidney(9)|large_intestine(26)|lung(46)|ovary(5)|prostate(6)|skin(6)|stomach(5)|upper_aerodigestive_tract(2)|urinary_tract(1)	117						c.(3667-3669)Gaa>Aaa		vacuolar protein sorting 13 homolog C (S. cerevisiae)							59.0	61.0	60.0					15																	62254029		2203	4300	6503	SO:0001583	missense	54832				protein localization			g.chr15:62254029C>T	AJ608770	CCDS10180.1, CCDS32257.1, CCDS45272.1, CCDS58367.1	15q21.3	2009-07-09	2006-04-04		ENSG00000129003	ENSG00000129003			23594	protein-coding gene	gene with protein product		608879	"""vacuolar protein sorting 13C (yeast)"""				Standard	NM_018080		Approved	FLJ20136, FLJ10381, KIAA1421	uc002agz.3	Q709C8	OTTHUMG00000132801	ENST00000261517.5:c.3667G>A	15.37:g.62254029C>T	ENSP00000261517:p.Glu1223Lys					VPS13C_ENST00000249837.3_Missense_Mutation_p.E1180K|VPS13C_ENST00000395896.4_Missense_Mutation_p.E1223K|VPS13C_ENST00000395898.3_Missense_Mutation_p.E1180K	p.E1223K	NM_020821.2	NP_065872.1	Q709C8	VP13C_HUMAN			35	3740	-			1223						Missense_Mutation	SNP	ENST00000261517.5	37	c.3667G>A	CCDS32257.1	.	.	.	.	.	.	.	.	.	.	C	25.5	4.644464	0.87859	.	.	ENSG00000129003	ENST00000249837;ENST00000261517;ENST00000395896;ENST00000395898	T;T;T	0.14266	2.52;2.52;2.52	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.31857	0.0810	M	0.83223	2.63	0.58432	D	0.999999	P;P;D;D	0.55800	0.926;0.926;0.957;0.973	P;P;P;P	0.51415	0.518;0.574;0.669;0.468	T	0.08534	-1.0717	10	0.66056	D	0.02	.	15.2477	0.73517	0.0:0.8601:0.1399:0.0	.	1180;1223;1180;1223	Q709C8-4;Q709C8-2;Q709C8-3;Q709C8	.;.;.;VP13C_HUMAN	K	1180;1223;1223;1223	ENSP00000249837:E1180K;ENSP00000261517:E1223K;ENSP00000379233:E1223K	ENSP00000249837:E1180K	E	-	1	0	VPS13C	60041321	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.696000	0.68287	2.649000	0.89929	0.563000	0.77884	GAA		0.448	VPS13C-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415997.1	NM_017684		18	76	0	0	0	0.520397	0	18	76				
PRR19	284338	broad.mit.edu	37	19	42813898	42813898	+	Silent	SNP	G	G	T			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr19:42813898G>T	ENST00000499536.2	+	1	973	c.162G>T	c.(160-162)gtG>gtT	p.V54V	PRR19_ENST00000341747.3_Silent_p.V54V|PRR19_ENST00000598490.1_Silent_p.V54V			A6NJB7	PRR19_HUMAN	proline rich 19	54										NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	10		Prostate(69;0.00682)				ATCCACCTGTGGTCCCTACTG	0.622																																						ENST00000499536.2																			0				NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	10						c.(160-162)gtG>gtT		proline rich 19							68.0	77.0	74.0					19																	42813898		2203	4300	6503	SO:0001819	synonymous_variant	284338							g.chr19:42813898G>T	AK124116	CCDS33036.1	19q13.2	2007-12-17				ENSG00000188368			33728	protein-coding gene	gene with protein product							Standard	NM_199285		Approved	MGC70924	uc002oti.3	A6NJB7		ENST00000499536.2:c.162G>T	19.37:g.42813898G>T						PRR19_ENST00000598490.1_Silent_p.V54V|PRR19_ENST00000341747.3_Silent_p.V54V	p.V54V			A6NJB7	PRR19_HUMAN			1	973	+		Prostate(69;0.00682)	54					A8K663|B3KW48|Q6P584	Silent	SNP	ENST00000499536.2	37	c.162G>T	CCDS33036.1																																																																																				0.622	PRR19-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463735.1	NM_199285		9	128	1	0	5.4927e-09	0.307466	5.69064e-09	9	128				
TMEM131	23505	broad.mit.edu	37	2	98388789	98388789	+	Silent	SNP	C	C	T			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr2:98388789C>T	ENST00000186436.5	-	33	4647	c.4419G>A	c.(4417-4419)aaG>aaA	p.K1473K		NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN	transmembrane protein 131	1473	Lys-rich.					integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						GGATTTCTTTCTTAATATTTA	0.363																																						ENST00000186436.5																			0				NS(1)|autonomic_ganglia(1)|breast(3)|central_nervous_system(4)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(7)|lung(23)|ovary(4)|prostate(1)|skin(1)|stomach(1)	57						c.(4417-4419)aaG>aaA		transmembrane protein 131							188.0	174.0	178.0					2																	98388789		1799	4066	5865	SO:0001819	synonymous_variant	23505					integral to membrane		g.chr2:98388789C>T	AK025852	CCDS46368.1	2q11.2	2006-04-12			ENSG00000075568	ENSG00000075568			30366	protein-coding gene	gene with protein product		615659				9039502, 10996388	Standard	NM_015348		Approved	CC28, YR-23, RW1, KIAA0257, PRO1048	uc002syh.4	Q92545	OTTHUMG00000153061	ENST00000186436.5:c.4419G>A	2.37:g.98388789C>T							p.K1473K	NM_015348.1	NP_056163.1	Q92545	TM131_HUMAN			33	4647	-			1473			Lys-rich.			Silent	SNP	ENST00000186436.5	37	c.4419G>A	CCDS46368.1																																																																																				0.363	TMEM131-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329285.2	XM_371542		5	146	0	0	0	0.184627	0	5	146				
MUC16	94025	broad.mit.edu	37	19	9090831	9090831	+	Silent	SNP	A	A	G			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr19:9090831A>G	ENST00000397910.4	-	1	1187	c.984T>C	c.(982-984)ccT>ccC	p.P328P		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	328	Thr-rich.				cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TCATGGAAAAAGGGATAGCTG	0.522																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(982-984)ccT>ccC		mucin 16, cell surface associated							96.0	95.0	96.0					19																	9090831		2041	4195	6236	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9090831A>G	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.984T>C	19.37:g.9090831A>G							p.P328P	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			1	1187	-			328			Thr-rich.		Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.984T>C	CCDS54212.1																																																																																				0.522	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		3	116	0	0	0	0.115264	0	3	116				
NACAP1	83955	broad.mit.edu	37	8	102381123	102381123	+	RNA	SNP	C	C	T			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr8:102381123C>T	ENST00000419462.1	+	0	535					NR_002182.1		Q9BZK3	NACP1_HUMAN	nascent-polypeptide-associated complex alpha polypeptide pseudogene 1																		CTTGATTCCACGTTCCCTCCA	0.542																																						ENST00000419462.1																			0																																																			0							g.chr8:102381123C>T	AF315951		8q22.3	2007-04-20				ENSG00000228224			24688	pseudogene	pseudogene							Standard	NR_002182		Approved	FKSG17	uc003ykc.1	Q9BZK3			8.37:g.102381123C>T								NR_002182.1						0	535	+									RNA	SNP	ENST00000419462.1	37																																																																																						0.542	NACAP1-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000380521.1	NR_002182		3	34	0	0	0	0.115264	0	3	34				
CDHR3	222256	broad.mit.edu	37	7	105669001	105669001	+	Silent	SNP	G	G	A	rs267601221		TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr7:105669001G>A	ENST00000317716.9	+	17	2357	c.2277G>A	c.(2275-2277)acG>acA	p.T759T	CDHR3_ENST00000478080.1_Silent_p.T671T|CDHR3_ENST00000470188.1_3'UTR|CDHR3_ENST00000542731.1_Silent_p.T759T|CDHR3_ENST00000343407.5_Missense_Mutation_p.E262K	NM_152750.4	NP_689963.2	Q6ZTQ4	CDHR3_HUMAN	cadherin-related family member 3	759					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						CTGCAGAAACGAAGACTGCAG	0.537																																						ENST00000343407.5																			0				breast(1)|cervix(3)|endometrium(1)|kidney(1)|large_intestine(1)|lung(15)|ovary(1)	23						c.(784-786)Gaa>Aaa		cadherin-related family member 3							64.0	64.0	64.0					7																	105669001		1948	4149	6097	SO:0001819	synonymous_variant	222256				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr7:105669001G>A	AK126338	CCDS47684.1, CCDS75651.1	7q22.2	2011-07-01			ENSG00000128536	ENSG00000128536		"""Cadherins / Cadherin-related"""	26308	protein-coding gene	gene with protein product		615610					Standard	NM_152750		Approved	FLJ44366, FLJ23834, CDH28	uc003vdl.4	Q6ZTQ4	OTTHUMG00000157520	ENST00000317716.9:c.2277G>A	7.37:g.105669001G>A						CDHR3_ENST00000478080.1_Silent_p.T671T|CDHR3_ENST00000542731.1_Silent_p.T759T|CDHR3_ENST00000470188.1_3'UTR|CDHR3_ENST00000317716.9_Silent_p.T759T	p.E262K			Q6ZTQ4	CDHR3_HUMAN			15	1741	+			0			Cadherin 3.		Q8TCI7	Missense_Mutation	SNP	ENST00000317716.9	37	c.784G>A	CCDS47684.1	.	.	.	.	.	.	.	.	.	.	G	17.39	3.376366	0.61735	.	.	ENSG00000128536	ENST00000343407;ENST00000466045	T;T	0.77098	-1.07;-0.44	6.08	3.03	0.35002	.	.	.	.	.	T	0.68668	0.3026	.	.	.	0.20563	N	0.999888	B	0.28667	0.219	B	0.23716	0.048	T	0.61436	-0.7063	8	0.87932	D	0	-1.9056	10.642	0.45598	0.0775:0.3165:0.606:0.0	.	260	Q6ZTQ4-2	.	K	262;301	ENSP00000341510:E262K;ENSP00000419017:E301K	ENSP00000341510:E262K	E	+	1	0	CDHR3	105456237	0.204000	0.23447	0.462000	0.27118	0.464000	0.32679	0.642000	0.24735	0.810000	0.34279	0.655000	0.94253	GAA		0.537	CDHR3-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000349025.2	NM_152750		19	32	0	0	0	0.624587	0	19	32				
TP53	7157	broad.mit.edu	37	17	7577121	7577121	+	Missense_Mutation	SNP	G	G	A	rs121913343		TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr17:7577121G>A	ENST00000269305.4	-	8	1006	c.817C>T	c.(817-819)Cgt>Tgt	p.R273C	TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron|TP53_ENST00000420246.2_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000574684.1_5'Flank|TP53_ENST00000445888.2_Missense_Mutation_p.R273C	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	273	Interaction with AXIN1. {ECO:0000250}.|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1. {ECO:0000250}.|Required for interaction with ZNF385A.		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17224074, ECO:0000269|PubMed:7887414, ECO:0000269|PubMed:9450901}.|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; does not induce SNAI1 degradation; dbSNP:rs28934576). {ECO:0000269|PubMed:1394225, ECO:0000269|PubMed:1565144, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:1699228, ECO:0000269|PubMed:1868473, ECO:0000269|PubMed:7682763, ECO:0000269|Ref.14}.|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation). {ECO:0000269|PubMed:16959974}.|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).		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.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(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)	GCACAAACACGCACCTCAAAG	0.542	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	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)	ENST00000420246.2	R273C(8MGBA_CENTRAL_NERVOUS_SYSTEM)|R273C(BL70_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(EFO27_OVARY)|R273C(KARPAS299_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(MFE319_ENDOMETRIUM)|R273C(NCIH1048_LUNG)|R273C(PANC0213_PANCREAS)|R273C(PF382_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(RDES_BONE)|R273C(RH30_SOFT_TISSUE)|R273C(RPMI8402_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SH10TC_STOMACH)|R273C(SJRH30_SOFT_TISSUE)|R273C(SUDHL4_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|R273C(SW1710_URINARY_TRACT)|R273C(SW1783_CENTRAL_NERVOUS_SYSTEM)|R273C(TT2609C02_THYROID)	111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		533	Substitution - Missense(506)|Whole gene deletion(8)|Deletion - Frameshift(8)|Deletion - In frame(5)|Insertion - Frameshift(2)|Unknown(2)|Complex(2)	p.R273C(481)|p.R273S(16)|p.R273G(9)|p.0?(8)|p.?(2)|p.R273fs*72(2)|p.R273fs*33(2)|p.R273fs*32(2)|p.V272>?(2)|p.F270fs*72(1)|p.R273_C275delRVC(1)|p.L265_K305del41(1)|p.S269fs*21(1)|p.E258fs*71(1)|p.R273fs*71(1)|p.F270_D281del12(1)|p.E271_R273delEVR(1)|p.V272_K292del21(1)	central_nervous_system(117)|large_intestine(108)|ovary(32)|haematopoietic_and_lymphoid_tissue(31)|upper_aerodigestive_tract(30)|stomach(25)|urinary_tract(23)|lung(21)|breast(21)|liver(20)|endometrium(17)|oesophagus(17)|bone(16)|pancreas(15)|prostate(8)|skin(7)|cervix(6)|biliary_tract(6)|kidney(3)|thyroid(3)|vulva(2)|genital_tract(1)|penis(1)|adrenal_gland(1)|salivary_gland(1)|small_intestine(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	GRCh37	CM010471|CM010473|CM951233	TP53	M	rs121913343	c.(817-819)Cgt>Tgt	Other conserved DNA damage response genes	tumor protein p53							65.0	56.0	59.0					17																	7577121		2203	4300	6503	SO:0001583	missense	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	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;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7577121G>A	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.817C>T	17.37:g.7577121G>A	ENSP00000269305:p.Arg273Cys	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)				TP53_ENST00000359597.4_Missense_Mutation_p.R273C|TP53_ENST00000269305.4_Missense_Mutation_p.R273C|TP53_ENST00000445888.2_Missense_Mutation_p.R273C|TP53_ENST00000455263.2_Missense_Mutation_p.R273C|TP53_ENST00000413465.2_Intron	p.R273C	NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	8	949	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)	273		R -> C (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> G (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> H (in LFS; germline mutation and in sporadic cancers; somatic mutation; abolishes sequence-specific DNA binding; dbSNP:rs28934576).|R -> L (in LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> N (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).|R -> P (in sporadic cancers; somatic mutation).|R -> Q (in sporadic cancers; somatic mutation).|R -> S (in a familial cancer not matching LFS; germline mutation and in sporadic cancers; somatic mutation).|R -> Y (in a sporadic cancer; somatic mutation; requires 2 nucleotide substitutions).	Interaction with AXIN1 (By similarity).|Interaction with DNA.|Interaction with E4F1.|Interaction with HIPK1 (By similarity).		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	c.817C>T	CCDS11118.1	.	.	.	.	.	.	.	.	.	.	G	17.48	3.400216	0.62177	.	.	ENSG00000141510	ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000509690	D;D;D;D;D;D	0.99869	-7.34;-7.34;-7.34;-7.34;-7.34;-7.34	4.92	3.95	0.45737	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	0.99851	0.9931	M	0.90759	3.145	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.998;0.998;0.999;0.996	D	0.96877	0.9643	10	0.87932	D	0	-11.9995	11.2235	0.48869	0.0895:0.0:0.9105:0.0	.	273;273;273;273	P04637-2;P04637-3;P04637;Q1MSW8	.;.;P53_HUMAN;.	C	273;273;273;273;273;262;141	ENSP00000352610:R273C;ENSP00000269305:R273C;ENSP00000398846:R273C;ENSP00000391127:R273C;ENSP00000391478:R273C;ENSP00000425104:R141C	ENSP00000269305:R273C	R	-	1	0	TP53	7517846	1.000000	0.71417	0.066000	0.19879	0.723000	0.41478	4.540000	0.60664	1.299000	0.44798	0.462000	0.41574	CGT		0.542	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546		35	9	0	0	0	0.760397	0	35	9				
IL6ST	3572	broad.mit.edu	37	5	55250757	55250757	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr5:55250757G>A	ENST00000381298.2	-	11	1643	c.1331C>T	c.(1330-1332)aCt>aTt	p.T444I	IL6ST_ENST00000536319.1_Intron|IL6ST_ENST00000381294.3_Intron|IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000502326.3_Missense_Mutation_p.T444I|IL6ST_ENST00000336909.5_Missense_Mutation_p.T444I|IL6ST_ENST00000381287.4_3'UTR|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000522633.2_3'UTR	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN	interleukin 6 signal transducer	444	Fibronectin type-III 4. {ECO:0000255|PROSITE-ProRule:PRU00316}.				ciliary neurotrophic factor-mediated signaling pathway (GO:0070120)|cytokine-mediated signaling pathway (GO:0019221)|glycogen metabolic process (GO:0005977)|interleukin-27-mediated signaling pathway (GO:0070106)|interleukin-6-mediated signaling pathway (GO:0070102)|leukemia inhibitory factor signaling pathway (GO:0048861)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interleukin-6-mediated signaling pathway (GO:0070104)|oncostatin-M-mediated signaling pathway (GO:0038165)|positive regulation of acute inflammatory response (GO:0002675)|positive regulation of adaptive immune response (GO:0002821)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of cardiac muscle hypertrophy (GO:0010613)|positive regulation of cell proliferation (GO:0008284)|positive regulation of osteoblast differentiation (GO:0045669)|positive regulation of T cell proliferation (GO:0042102)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation vascular endothelial growth factor production (GO:0010575)|regulation of Notch signaling pathway (GO:0008593)|response to cytokine (GO:0034097)|viral process (GO:0016032)	ciliary neurotrophic factor receptor complex (GO:0070110)|dendrite (GO:0030425)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|interleukin-6 receptor complex (GO:0005896)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|oncostatin-M receptor complex (GO:0005900)|plasma membrane (GO:0005886)	ciliary neurotrophic factor receptor activity (GO:0004897)|ciliary neurotrophic factor receptor binding (GO:0005127)|growth factor binding (GO:0019838)|interleukin-11 receptor activity (GO:0004921)|interleukin-27 receptor activity (GO:0045509)|protein homodimerization activity (GO:0042803)			breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)				CCTTGGAGTAGTCCATTCCAC	0.368			O		hepatocellular ca																																	ENST00000381298.2				Dom	yes		5	5q11	3572	O	"""interleukin 6 signal transducer (gp130, oncostatin M receptor)"""			E			hepatocellular ca		0				breast(2)|endometrium(5)|kidney(5)|large_intestine(4)|liver(2)|lung(1)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	26						c.(1330-1332)aCt>aTt		interleukin 6 signal transducer (gp130, oncostatin M receptor)							180.0	180.0	180.0					5																	55250757		2203	4300	6503	SO:0001583	missense	3572				interleukin-6-mediated signaling pathway|leukemia inhibitory factor signaling pathway|negative regulation of interleukin-6-mediated signaling pathway|positive regulation of anti-apoptosis|positive regulation of cardiac muscle hypertrophy|positive regulation of osteoblast differentiation|positive regulation of T cell proliferation|positive regulation of tyrosine phosphorylation of Stat1 protein|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation vascular endothelial growth factor production	ciliary neurotrophic factor receptor complex|extracellular region|extracellular space|interleukin-6 receptor complex|oncostatin-M receptor complex	ciliary neurotrophic factor receptor activity|ciliary neurotrophic factor receptor binding|growth factor binding|protein homodimerization activity	g.chr5:55250757G>A	M57230	CCDS3971.1, CCDS47209.1, CCDS54856.1	5q11.2	2014-04-04	2014-04-04		ENSG00000134352	ENSG00000134352		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Fibronectin type III domain containing"""	6021	protein-coding gene	gene with protein product	"""gp130, oncostatin M receptor"""	600694	"""interleukin 6 signal transducer (gp130, oncostatin M receptor)"""			2261637	Standard	NM_002184		Approved	GP130, CD130	uc003jqq.3	P40189	OTTHUMG00000097043	ENST00000381298.2:c.1331C>T	5.37:g.55250757G>A	ENSP00000370698:p.Thr444Ile					IL6ST_ENST00000381294.3_Intron|IL6ST_ENST00000522633.2_3'UTR|IL6ST_ENST00000381287.4_3'UTR|IL6ST_ENST00000536319.1_Intron|IL6ST_ENST00000336909.5_Missense_Mutation_p.T444I|IL6ST_ENST00000381286.3_Intron|IL6ST_ENST00000381293.2_Intron|IL6ST_ENST00000502326.3_Missense_Mutation_p.T444I	p.T444I	NM_001190981.1|NM_002184.3|NM_175767.2	NP_001177910.1|NP_002175.2|NP_786943.1	P40189	IL6RB_HUMAN			11	1643	-		Lung NSC(810;8.69e-05)|Prostate(74;0.00308)|Breast(144;0.0544)|Ovarian(174;0.223)	444			Fibronectin type-III 4.		A0N0L4|Q5FC04|Q9UQ41	Missense_Mutation	SNP	ENST00000381298.2	37	c.1331C>T	CCDS3971.1	.	.	.	.	.	.	.	.	.	.	G	19.22	3.786517	0.70337	.	.	ENSG00000134352	ENST00000381298;ENST00000336909	T;T	0.55234	0.53;0.53	5.94	5.07	0.68467	Long hematopoietin receptor, Gp130 family 2, conserved site (1);Fibronectin, type III (3);Immunoglobulin-like fold (1);	0.350015	0.32081	N	0.006613	T	0.66366	0.2782	M	0.74881	2.28	0.80722	D	1	D;D	0.76494	0.998;0.999	P;P	0.60886	0.779;0.88	T	0.68496	-0.5393	10	0.51188	T	0.08	.	9.8494	0.41048	0.0694:0.0:0.7917:0.1389	.	444;444	Q17RA0;P40189	.;IL6RB_HUMAN	I	444	ENSP00000370698:T444I;ENSP00000338799:T444I	ENSP00000338799:T444I	T	-	2	0	IL6ST	55286514	0.969000	0.33509	0.920000	0.36463	0.989000	0.77384	1.617000	0.36943	1.518000	0.48934	0.591000	0.81541	ACT		0.368	IL6ST-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000214146.3	NM_002184		9	216	0	0	0	0.361761	0	9	216				
PRF1	5551	broad.mit.edu	37	10	72358728	72358728	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr10:72358728G>A	ENST00000441259.1	-	3	909	c.749C>T	c.(748-750)aCg>aTg	p.T250M	PRF1_ENST00000373209.2_Missense_Mutation_p.T250M	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN	perforin 1 (pore forming protein)	250	MACPF. {ECO:0000255|PROSITE- ProRule:PRU00745}.				apoptotic process (GO:0006915)|cellular defense response (GO:0006968)|cytolysis (GO:0019835)|defense response to tumor cell (GO:0002357)|defense response to virus (GO:0051607)|immune response to tumor cell (GO:0002418)|protein homooligomerization (GO:0051260)|transmembrane transport (GO:0055085)	cytolytic granule (GO:0044194)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|wide pore channel activity (GO:0022829)			breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						CTCGTTGTCCGTGAGCCCTTC	0.637			M			"""various leukaemia, lymphoma"""	Type 2 familial hemophagocytic lymphohistiocytosis		Familial Hemophagocytic Lymphohistiocytosis																													ENST00000441259.1			yes	Rec			10	10q22	5551	M	perforin 1 (pore forming protein)		Type 2 familial hemophagocytic lymphohistiocytosis	L		"""various leukaemia, lymphoma"""			0				breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(11)|ovary(1)|prostate(3)|urinary_tract(3)	23						c.(748-750)aCg>aTg		perforin 1 (pore forming protein)							113.0	82.0	93.0					10																	72358728		2203	4300	6503	SO:0001583	missense	5551	Familial Hemophagocytic Lymphohistiocytosis	Familial Cancer Database	FHLH, FHL, Familial Hemophagocytic Reticulosis, FHR	apoptosis|cellular defense response|cytolysis|defense response to tumor cell|defense response to virus|immune response to tumor cell|protein homooligomerization	cytolytic granule|endosome lumen|extracellular region|integral to membrane|plasma membrane	calcium ion binding|protein binding|wide pore channel activity	g.chr10:72358728G>A	BC047695	CCDS7305.1	10q22	2014-09-17			ENSG00000180644	ENSG00000180644			9360	protein-coding gene	gene with protein product	"""Perforin"", ""perforin 1 (preforming protein)"""	170280				1505959, 2592021	Standard	NM_005041		Approved	PFP, P1, HPLH2	uc001jrf.4	P14222	OTTHUMG00000018412	ENST00000441259.1:c.749C>T	10.37:g.72358728G>A	ENSP00000398568:p.Thr250Met					PRF1_ENST00000373209.2_Missense_Mutation_p.T250M	p.T250M	NM_001083116.1|NM_005041.4	NP_001076585.1|NP_005032.2	P14222	PERF_HUMAN			3	909	-			250			MACPF.		B2R6X4|Q59F57|Q86WX7	Missense_Mutation	SNP	ENST00000441259.1	37	c.749C>T	CCDS7305.1	.	.	.	.	.	.	.	.	.	.	G	13.11	2.140163	0.37825	.	.	ENSG00000180644	ENST00000373209;ENST00000441259;ENST00000318971	D;D	0.85013	-1.93;-1.93	5.83	4.85	0.62838	Membrane attack complex component/perforin (MACPF) domain (3);	0.430669	0.25060	N	0.033458	D	0.92163	0.7515	M	0.83012	2.62	0.26575	N	0.973497	D	0.89917	1.0	D	0.68765	0.96	D	0.86411	0.1748	10	0.87932	D	0	-15.497	15.2421	0.73480	0.0:0.0:0.85:0.15	.	250	P14222	PERF_HUMAN	M	250	ENSP00000362305:T250M;ENSP00000398568:T250M	ENSP00000316746:T250M	T	-	2	0	PRF1	72028734	0.980000	0.34600	0.964000	0.40570	0.160000	0.22226	1.819000	0.39022	2.741000	0.93983	0.655000	0.94253	ACG		0.637	PRF1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048517.2	NM_005041		31	36	0	0	0	0.769981	0	31	36				
DHX16	8449	broad.mit.edu	37	6	30632747	30632747	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr6:30632747G>A	ENST00000376442.3	-	7	1343	c.1148C>T	c.(1147-1149)tCa>tTa	p.S383L	DHX16_ENST00000376437.5_5'Flank	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN	DEAH (Asp-Glu-Ala-His) box polypeptide 16	383					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|poly(A) RNA binding (GO:0044822)|RNA helicase activity (GO:0003724)			kidney(2)|ovary(2)	4						GGCCTGAGTTGAAGTGGGTGG	0.567																																						ENST00000376442.3																			0				kidney(2)|ovary(2)	4						c.(1147-1149)tCa>tTa		DEAH (Asp-Glu-Ala-His) box polypeptide 16							46.0	49.0	48.0					6																	30632747		1511	2709	4220	SO:0001583	missense	8449				mRNA processing|RNA splicing	nucleus	ATP binding|ATP-dependent helicase activity|nucleic acid binding|RNA helicase activity	g.chr6:30632747G>A	AB001601	CCDS4685.1	6p21.3	2010-02-17	2003-06-13	2003-06-20	ENSG00000204560	ENSG00000204560		"""DEAH-boxes"""	2739	protein-coding gene	gene with protein product		603405	"""DEAD/H (Asp-Glu-Ala-Asp/His) box polypeptide 16"""	DDX16		9547260	Standard	NM_003587		Approved	DBP2, Prp2, PRPF2	uc003nqz.3	O60231	OTTHUMG00000031060	ENST00000376442.3:c.1148C>T	6.37:g.30632747G>A	ENSP00000365625:p.Ser383Leu						p.S383L	NM_001164239.1|NM_003587.4	NP_001157711.1|NP_003578.2	O60231	DHX16_HUMAN			7	1343	-			383					O60322|Q5JP45|Q969X7|Q96QC1	Missense_Mutation	SNP	ENST00000376442.3	37	c.1148C>T	CCDS4685.1	.	.	.	.	.	.	.	.	.	.	G	6.786	0.513942	0.12944	.	.	ENSG00000204560	ENST00000376442	T	0.02812	4.15	5.18	4.29	0.51040	.	0.362638	0.29767	N	0.011260	T	0.00967	0.0032	N	0.22421	0.69	0.80722	D	1	B;B	0.16396	0.009;0.017	B;B	0.10450	0.004;0.005	T	0.52253	-0.8600	10	0.34782	T	0.22	.	10.4777	0.44674	0.0:0.0:0.7795:0.2205	.	323;383	B4DZ28;O60231	.;DHX16_HUMAN	L	383	ENSP00000365625:S383L	ENSP00000365625:S383L	S	-	2	0	DHX16	30740726	0.041000	0.20044	0.002000	0.10522	0.159000	0.22180	1.905000	0.39878	1.118000	0.41863	0.491000	0.48974	TCA		0.567	DHX16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076076.2	NM_003587		6	55	0	0	0	0.217242	0	6	55				
TCF12	6938	broad.mit.edu	37	15	57543547	57543547	+	Splice_Site	SNP	G	G	A			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr15:57543547G>A	ENST00000267811.5	+	14	1418		c.e14-1		TCF12_ENST00000559703.1_Splice_Site|TCF12_ENST00000560764.1_Splice_Site|TCF12_ENST00000543579.1_Splice_Site|TCF12_ENST00000537840.1_Splice_Site|TCF12_ENST00000557843.1_Splice_Site|TCF12_ENST00000333725.5_Splice_Site|TCF12_ENST00000452095.2_Splice_Site|TCF12_ENST00000343827.3_Splice_Site|TCF12_ENST00000559710.1_Splice_Site|TCF12_ENST00000438423.2_Splice_Site	NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN	transcription factor 12						immune response (GO:0006955)|muscle organ development (GO:0007517)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nuclear chromatin (GO:0000790)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	bHLH transcription factor binding (GO:0043425)|E-box binding (GO:0070888)|enhancer binding (GO:0035326)|sequence-specific DNA binding transcription factor activity (GO:0003700)|SMAD binding (GO:0046332)|transcription factor binding (GO:0008134)		TCF12/NR4A3(2)	breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36		Colorectal(260;0.0907)		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)		GGTTTTAACAGGTACCAGTCA	0.423			T	TEC	extraskeletal myxoid chondrosarcoma																																	ENST00000267811.5				Dom	yes		15	15q21	6938	T	"""transcription factor 12 (HTF4, helix-loop-helix transcription factors 4)"""			M	TEC		extraskeletal myxoid chondrosarcoma	TCF12/NR4A3(2)	0				breast(2)|central_nervous_system(5)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(1)|lung(13)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	36						c.e14-1		transcription factor 12							113.0	92.0	99.0					15																	57543547		2192	4292	6484	SO:0001630	splice_region_variant	6938				immune response|muscle organ development|regulation of transcription from RNA polymerase II promoter	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr15:57543547G>A	BC050556	CCDS10159.1, CCDS10160.1, CCDS42042.1	15q21	2013-05-21	2008-07-31		ENSG00000140262	ENSG00000140262		"""Basic helix-loop-helix proteins"""	11623	protein-coding gene	gene with protein product	"""helix-loop-helix transcription factor 4"""	600480				1886779	Standard	NM_003205		Approved	HEB, HTF4, HsT17266, bHLHb20	uc002aeb.3	Q99081	OTTHUMG00000132047	ENST00000267811.5:c.1115-1G>A	15.37:g.57543547G>A						TCF12_ENST00000452095.2_Splice_Site|TCF12_ENST00000559703.1_Splice_Site|TCF12_ENST00000537840.1_Splice_Site|TCF12_ENST00000333725.5_Splice_Site|TCF12_ENST00000343827.3_Splice_Site|TCF12_ENST00000438423.2_Splice_Site|TCF12_ENST00000557843.1_Splice_Site|TCF12_ENST00000560764.1_Splice_Site|TCF12_ENST00000559710.1_Splice_Site|TCF12_ENST00000543579.1_Splice_Site		NM_003205.3|NM_207038.1	NP_003196.1|NP_996921.1	Q99081	HTF4_HUMAN		all cancers(107;0.000313)|GBM - Glioblastoma multiforme(80;0.00878)|STAD - Stomach adenocarcinoma(283;0.239)	14	1418	+		Colorectal(260;0.0907)						Q7Z3D9|Q86TC1|Q86VM2	Splice_Site	SNP	ENST00000267811.5	37		CCDS10159.1	.	.	.	.	.	.	.	.	.	.	G	18.36	3.606670	0.66558	.	.	ENSG00000140262	ENST00000543236;ENST00000267811;ENST00000438423;ENST00000452095;ENST00000333725;ENST00000543579;ENST00000537840;ENST00000343827	.	.	.	5.74	4.84	0.62591	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.7002	0.85348	0.0:0.0:0.8692:0.1308	.	.	.	.	.	-1	.	.	.	+	.	.	TCF12	55330839	1.000000	0.71417	1.000000	0.80357	0.825000	0.46686	9.516000	0.98017	1.584000	0.49913	-0.217000	0.12591	.		0.423	TCF12-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000255069.3	NM_003205	Intron	21	28	0	0	0	0.608945	0	21	28				
EGF	1950	broad.mit.edu	37	4	110895897	110895897	+	Missense_Mutation	SNP	G	G	A	rs554205393		TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr4:110895897G>A	ENST00000265171.5	+	12	2208	c.1763G>A	c.(1762-1764)cGt>cAt	p.R588H	EGF_ENST00000509793.1_Missense_Mutation_p.R546H|EGF_ENST00000503392.1_Missense_Mutation_p.R588H	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN	epidermal growth factor	588					activation of MAPKK activity (GO:0000186)|activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|angiogenesis (GO:0001525)|blood coagulation (GO:0007596)|branching morphogenesis of an epithelial tube (GO:0048754)|DNA replication (GO:0006260)|epidermal growth factor receptor signaling pathway (GO:0007173)|ERK1 and ERK2 cascade (GO:0070371)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|mammary gland alveolus development (GO:0060749)|negative regulation of cholesterol efflux (GO:0090370)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of secretion (GO:0051048)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of catenin import into nucleus (GO:0035413)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cerebellar granule cell precursor proliferation (GO:0021940)|positive regulation of DNA binding (GO:0043388)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of hyaluronan biosynthetic process (GO:1900127)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of mitosis (GO:0045840)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of phosphorylation (GO:0042327)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of calcium ion import (GO:0090279)|regulation of protein localization to cell surface (GO:2000008)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)|platelet alpha granule lumen (GO:0031093)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|growth factor activity (GO:0008083)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)			breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50		Hepatocellular(203;0.0893)		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	Sucralfate(DB00364)	AATGGGAAACGTTCCAAAATA	0.353													G|||	1	0.000199681	0.0	0.0	5008	,	,		18164	0.0		0.0	False		,,,				2504	0.001					ENST00000265171.5																			0				breast(1)|central_nervous_system(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(4)|lung(19)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|soft_tissue(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(1762-1764)cGt>cAt		epidermal growth factor	Sulindac(DB00605)						103.0	97.0	99.0					4																	110895897		2203	4300	6503	SO:0001583	missense	1950				angiogenesis|DNA replication|epidermal growth factor receptor signaling pathway|negative regulation of epidermal growth factor receptor signaling pathway|negative regulation of secretion|platelet activation|platelet degranulation|positive regulation of catenin import into nucleus|positive regulation of epidermal growth factor receptor activity|positive regulation of MAP kinase activity|positive regulation of mitosis|regulation of calcium ion import|regulation of protein localization at cell surface	integral to membrane|plasma membrane|platelet alpha granule lumen	calcium ion binding|epidermal growth factor receptor binding|growth factor activity|transmembrane receptor protein tyrosine kinase activator activity	g.chr4:110895897G>A	X04571	CCDS3689.1, CCDS54794.1, CCDS54795.1	4q25	2012-10-02	2010-05-11		ENSG00000138798	ENSG00000138798			3229	protein-coding gene	gene with protein product		131530	"""epidermal growth factor (beta-urogastrone)"""				Standard	NM_001963		Approved		uc003hzy.4	P01133	OTTHUMG00000132044	ENST00000265171.5:c.1763G>A	4.37:g.110895897G>A	ENSP00000265171:p.Arg588His					EGF_ENST00000509793.1_Missense_Mutation_p.R546H|EGF_ENST00000503392.1_Missense_Mutation_p.R588H	p.R588H	NM_001178130.1|NM_001963.4	NP_001171601.1|NP_001954.2	P01133	EGF_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;9.87e-06)	12	2208	+		Hepatocellular(203;0.0893)	588					B4DRK7|E7EVD2|E9PBF0|Q52LZ6	Missense_Mutation	SNP	ENST00000265171.5	37	c.1763G>A	CCDS3689.1	.	.	.	.	.	.	.	.	.	.	G	0.007	-1.990370	0.00439	.	.	ENSG00000138798	ENST00000509793;ENST00000265171;ENST00000503392	D;D;D	0.95412	-3.7;-3.7;-3.7	4.85	0.913	0.19354	Six-bladed beta-propeller, TolB-like (1);	0.543217	0.22515	N	0.059056	T	0.78329	0.4266	N	0.00554	-1.385	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.72459	-0.4287	10	0.13470	T	0.59	.	4.8636	0.13596	0.7034:0.0:0.1589:0.1378	.	588;546;588	E7EVD2;P01133-2;P01133	.;.;EGF_HUMAN	H	546;588;588	ENSP00000424316:R546H;ENSP00000265171:R588H;ENSP00000421384:R588H	ENSP00000265171:R588H	R	+	2	0	EGF	111115346	0.016000	0.18221	0.009000	0.14445	0.229000	0.25112	2.713000	0.47194	0.002000	0.14630	-0.238000	0.12139	CGT		0.353	EGF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255065.1			12	34	0	0	0	0.520397	0	12	34				
TMCC1	23023	broad.mit.edu	37	3	129389499	129389499	+	Silent	SNP	T	T	C	rs368776883		TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr3:129389499T>C	ENST00000393238.3	-	4	1525	c.1185A>G	c.(1183-1185)gaA>gaG	p.E395E	TMCC1_ENST00000426664.2_Silent_p.E281E|TMCC1_ENST00000432054.2_Silent_p.E71E|TMCC1_ENST00000329333.5_Silent_p.E216E	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN	transmembrane and coiled-coil domain family 1	395						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)			PLXND1/TMCC1(4)	breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						CCACTTGCCCTTCCTCTAAAG	0.478																																						ENST00000393238.3																		PLXND1/TMCC1(4)	0				breast(1)|endometrium(3)|large_intestine(8)|lung(12)|skin(1)	25						c.(1183-1185)gaA>gaG		transmembrane and coiled-coil domain family 1		T	,	1,4405	2.1+/-5.4	0,1,2202	80.0	77.0	78.0		1185,843	2.8	1.0	3		78	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	TMCC1	NM_001017395.3,NM_001128224.2	,	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	,	395/654,281/540	129389499	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	23023					integral to membrane		g.chr3:129389499T>C	AB018322	CCDS33855.1	3q21.3	2010-04-19	2005-07-13		ENSG00000172765	ENSG00000172765		"""Transmembrane and coiled-coil domain containing"""	29116	protein-coding gene	gene with protein product			"""transmembrane and coiled-coil domains 1"""			9872452	Standard	NR_033361		Approved	KIAA0779	uc021xdy.1	O94876	OTTHUMG00000159579	ENST00000393238.3:c.1185A>G	3.37:g.129389499T>C						TMCC1_ENST00000432054.2_Silent_p.E71E|TMCC1_ENST00000426664.2_Silent_p.E281E|TMCC1_ENST00000329333.5_Silent_p.E216E	p.E395E	NM_001017395.3	NP_001017395.2	O94876	TMCC1_HUMAN			4	1525	-			395					A8K5Y3|B4DE04|Q68E06|Q8IXM8	Silent	SNP	ENST00000393238.3	37	c.1185A>G	CCDS33855.1																																																																																				0.478	TMCC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356418.2	NM_015008		9	98	0	0	0	0.361761	0	9	98				
PM20D1	148811	broad.mit.edu	37	1	205819185	205819185	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr1:205819185C>A	ENST00000367136.4	-	1	60	c.16G>T	c.(16-18)Gtt>Ttt	p.V6F	PM20D1_ENST00000460624.1_5'UTR	NM_152491.4	NP_689704.4	Q6GTS8	P20D1_HUMAN	peptidase M20 domain containing 1	6					negative regulation of neuron death (GO:1901215)|regulation of defense response to virus by host (GO:0050691)|regulation of viral process (GO:0050792)	extracellular vesicular exosome (GO:0070062)	metal ion binding (GO:0046872)|peptidase activity (GO:0008233)			breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28	Breast(84;0.201)		BRCA - Breast invasive adenocarcinoma(75;0.0252)			AGCACGCAAACGCACCGCTGA	0.602																																						ENST00000367136.4																			0				breast(2)|endometrium(2)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|pancreas(1)|prostate(1)|skin(4)|stomach(1)	28						c.(16-18)Gtt>Ttt		peptidase M20 domain containing 1							72.0	66.0	68.0					1																	205819185		2203	4300	6503	SO:0001583	missense	148811					extracellular region	metal ion binding|peptidase activity	g.chr1:205819185C>A		CCDS1460.1	1q32.1	2008-02-05			ENSG00000162877	ENSG00000162877			26518	protein-coding gene	gene with protein product							Standard	NM_152491		Approved	FLJ32569, Cps1	uc001hdj.3	Q6GTS8	OTTHUMG00000035999	ENST00000367136.4:c.16G>T	1.37:g.205819185C>A	ENSP00000356104:p.Val6Phe					PM20D1_ENST00000460624.1_5'UTR	p.V6F	NM_152491.4	NP_689704.4	Q6GTS8	P20D1_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0252)		1	60	-	Breast(84;0.201)		6					Q6P4E3|Q96DM4	Missense_Mutation	SNP	ENST00000367136.4	37	c.16G>T	CCDS1460.1	.	.	.	.	.	.	.	.	.	.	C	10.25	1.298366	0.23650	.	.	ENSG00000162877	ENST00000367136	T	0.07800	3.16	4.18	-0.002	0.14031	.	1.379330	0.04474	N	0.376701	T	0.07773	0.0195	L	0.43152	1.355	0.09310	N	1	B	0.09022	0.002	B	0.08055	0.003	T	0.40421	-0.9564	10	0.24483	T	0.36	.	3.7828	0.08687	0.2962:0.4846:0.1312:0.088	.	6	Q6GTS8	P20D1_HUMAN	F	6	ENSP00000356104:V6F	ENSP00000356104:V6F	V	-	1	0	PM20D1	204085808	0.000000	0.05858	0.000000	0.03702	0.020000	0.10135	-0.693000	0.05121	-0.212000	0.10109	-0.795000	0.03280	GTT		0.602	PM20D1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087736.1	NM_152491		11	41	1	0	0.00136819	0.411799	0.00139241	11	41				
TUBB6	84617	broad.mit.edu	37	18	12325927	12325927	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr18:12325927G>A	ENST00000317702.5	+	4	1373	c.1139G>A	c.(1138-1140)cGc>cAc	p.R380H	TUBB6_ENST00000590967.1_Intron|TUBB6_ENST00000591909.1_Intron|TUBB6_ENST00000591208.1_3'UTR			Q9BUF5	TBB6_HUMAN	tubulin, beta 6 class V	380					'de novo' posttranslational protein folding (GO:0051084)|cellular protein metabolic process (GO:0044267)|microtubule-based process (GO:0007017)|protein folding (GO:0006457)|protein polymerization (GO:0051258)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|structural constituent of cytoskeleton (GO:0005200)			endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14				READ - Rectum adenocarcinoma(1;0.0649)		CTGTTCAAGCGCATCTCCGAG	0.617																																						ENST00000317702.5																			0				endometrium(2)|kidney(1)|large_intestine(5)|lung(5)|prostate(1)	14						c.(1138-1140)cGc>cAc		tubulin, beta 6 class V							164.0	150.0	155.0					18																	12325927		2203	4300	6503	SO:0001583	missense	84617				'de novo' posttranslational protein folding|microtubule-based movement|protein polymerization	cytoplasm|microtubule	GTP binding|GTPase activity|structural molecule activity	g.chr18:12325927G>A	AK001295	CCDS11858.1	18p11.21	2011-10-10	2011-10-10		ENSG00000176014	ENSG00000176014		"""Tubulins"""	20776	protein-coding gene	gene with protein product	"""tubulin beta MGC4083"", ""class V beta-tubulin"""	615103	"""tubulin, beta 6"""			12477932	Standard	NM_032525		Approved	MGC4083, HsT1601	uc002kqw.3	Q9BUF5	OTTHUMG00000131692	ENST00000317702.5:c.1139G>A	18.37:g.12325927G>A	ENSP00000318697:p.Arg380His					TUBB6_ENST00000591909.1_Intron|TUBB6_ENST00000591208.1_3'UTR|TUBB6_ENST00000590967.1_Intron	p.R380H			Q9BUF5	TBB6_HUMAN		READ - Rectum adenocarcinoma(1;0.0649)	4	1373	+			380					B3KM76|Q9HA42	Missense_Mutation	SNP	ENST00000317702.5	37	c.1139G>A	CCDS11858.1	.	.	.	.	.	.	.	.	.	.	G	20.5	3.993871	0.74703	.	.	ENSG00000176014	ENST00000317702;ENST00000417736;ENST00000445717	D	0.83673	-1.75	5.5	5.5	0.81552	Tubulin/FtsZ, 2-layer sandwich domain (2);Tubulin, C-terminal (1);Tubulin/FtsZ, C-terminal (1);	0.000000	0.85682	D	0.000000	D	0.92835	0.7721	M	0.89414	3.03	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.79784	0.985;0.993	D	0.93534	0.6872	10	0.87932	D	0	.	19.7727	0.96373	0.0:0.0:1.0:0.0	.	352;380	B4DP54;Q9BUF5	.;TBB6_HUMAN	H	380;308;352	ENSP00000318697:R380H	ENSP00000318697:R380H	R	+	2	0	TUBB6	12315927	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.666000	0.98612	2.758000	0.94735	0.563000	0.77884	CGC		0.617	TUBB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254600.2	NM_032525		5	272	0	0	0	0.184627	0	5	272				
CDK12	51755	broad.mit.edu	37	17	37627827	37627827	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr17:37627827C>T	ENST00000447079.4	+	2	1775	c.1742C>T	c.(1741-1743)aCt>aTt	p.T581I	CDK12_ENST00000430627.2_Missense_Mutation_p.T581I	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN	cyclin-dependent kinase 12	581					mRNA processing (GO:0006397)|phosphorylation of RNA polymerase II C-terminal domain (GO:0070816)|protein autophosphorylation (GO:0046777)|regulation of MAP kinase activity (GO:0043405)|RNA splicing (GO:0008380)	cyclin K-CDK12 complex (GO:0002944)|nuclear cyclin-dependent protein kinase holoenzyme complex (GO:0019908)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cyclin binding (GO:0030332)|cyclin-dependent protein serine/threonine kinase activity (GO:0004693)|protein kinase activity (GO:0004672)|RNA polymerase II carboxy-terminal domain kinase activity (GO:0008353)			NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						GCTTCCAGTACTTCAACTTTG	0.507			"""Mis, N, F"""		serous ovarian					TCGA Ovarian(9;0.13)																												ENST00000447079.4				Rec	yes		17	17q12	51755	"""Mis, N, F"""	cyclin-dependent kinase 12			E			serous ovarian		0				NS(4)|breast(3)|endometrium(5)|kidney(4)|large_intestine(11)|lung(23)|ovary(11)|prostate(4)|skin(2)|urinary_tract(3)	70						c.(1741-1743)aCt>aTt		cyclin-dependent kinase 12							180.0	171.0	174.0					17																	37627827		2203	4300	6503	SO:0001583	missense	51755				mRNA processing|phosphorylation of RNA polymerase II C-terminal domain|protein autophosphorylation|regulation of MAP kinase activity|RNA splicing	nuclear cyclin-dependent protein kinase holoenzyme complex|nuclear speck|nucleolus	ATP binding|cyclin-dependent protein kinase activity|protein binding|RNA polymerase II carboxy-terminal domain kinase activity	g.chr17:37627827C>T	AF227198	CCDS11337.1, CCDS45666.1	17q12	2011-10-25	2009-12-16	2009-12-16	ENSG00000167258	ENSG00000167258		"""Cyclin-dependent kinases"""	24224	protein-coding gene	gene with protein product	"""CDC2 related protein kinase 7"""	615514	"""Cdc2-related kinase, arginine/serine-rich"""	CRKRS		10048485, 11683387, 19884882	Standard	XM_005257456		Approved	CRK7, CRKR, KIAA0904	uc010cvv.3	Q9NYV4	OTTHUMG00000133214	ENST00000447079.4:c.1742C>T	17.37:g.37627827C>T	ENSP00000398880:p.Thr581Ile	TCGA Ovarian(9;0.13)				CDK12_ENST00000430627.2_Missense_Mutation_p.T581I	p.T581I	NM_015083.1|NM_016507.2	NP_055898.1|NP_057591.2	Q9NYV4	CDK12_HUMAN			2	1775	+			581					A7E2B2|B4DYX4|B9EIQ6|O94978	Missense_Mutation	SNP	ENST00000447079.4	37	c.1742C>T	CCDS11337.1	.	.	.	.	.	.	.	.	.	.	C	14.19	2.461179	0.43736	.	.	ENSG00000167258	ENST00000430627;ENST00000447079	T;T	0.42131	0.98;0.98	5.89	3.88	0.44766	.	0.407307	0.20971	N	0.082386	T	0.39708	0.1088	L	0.36672	1.1	0.34850	D	0.74154	B;B;B	0.20459	0.026;0.026;0.045	B;B;B	0.30943	0.057;0.057;0.122	T	0.50311	-0.8843	10	0.62326	D	0.03	-2.1457	15.8203	0.78633	0.0:0.7424:0.2576:0.0	.	580;581;581	E7EUM9;Q9NYV4;Q9NYV4-2	.;CDK12_HUMAN;.	I	581	ENSP00000407720:T581I;ENSP00000398880:T581I	ENSP00000407720:T581I	T	+	2	0	CDK12	34881353	1.000000	0.71417	1.000000	0.80357	0.932000	0.56968	3.285000	0.51716	0.810000	0.34279	0.655000	0.94253	ACT		0.507	CDK12-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256941.4	NM_016507		13	253	0	0	0	0.457914	0	13	253				
NEB	4703	broad.mit.edu	37	2	152374910	152374910	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr2:152374910C>G	ENST00000172853.10	-	128	17766	c.17619G>C	c.(17617-17619)aaG>aaC	p.K5873N	NEB_ENST00000604864.1_Missense_Mutation_p.K7574N|NEB_ENST00000397345.3_Missense_Mutation_p.K7574N|NEB_ENST00000427231.2_Missense_Mutation_p.K7574N|NEB_ENST00000603639.1_Missense_Mutation_p.K7574N|NEB_ENST00000409198.1_Missense_Mutation_p.K5873N			P20929	NEBU_HUMAN	nebulin	5873					muscle filament sliding (GO:0030049)|muscle organ development (GO:0007517)|regulation of actin filament length (GO:0030832)|somatic muscle development (GO:0007525)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|Z disc (GO:0030018)	structural constituent of muscle (GO:0008307)			NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301				BRCA - Breast invasive adenocarcinoma(221;0.219)		GGCCTTTACTCTTCTCATACT	0.433																																						ENST00000397345.3																			0				NS(5)|autonomic_ganglia(3)|breast(9)|central_nervous_system(5)|cervix(3)|endometrium(35)|kidney(16)|large_intestine(77)|liver(1)|lung(99)|ovary(9)|pancreas(3)|prostate(13)|skin(7)|stomach(8)|upper_aerodigestive_tract(6)|urinary_tract(2)	301						c.(22720-22722)aaG>aaC		nebulin							314.0	299.0	304.0					2																	152374910		1937	4145	6082	SO:0001583	missense	4703				muscle filament sliding|muscle organ development|regulation of actin filament length|somatic muscle development	actin cytoskeleton|cytosol|Z disc	actin binding|structural constituent of muscle	g.chr2:152374910C>G	X83957	CCDS46424.1, CCDS54407.1, CCDS54408.1, CCDS74588.1	2q22	2014-09-17			ENSG00000183091	ENSG00000183091			7720	protein-coding gene	gene with protein product	"""nemaline myopathy type 2"""	161650		NEM2		10051637, 9359044	Standard	NM_001164507		Approved	NEB177D	uc010fnx.3	P20929	OTTHUMG00000153784	ENST00000172853.10:c.17619G>C	2.37:g.152374910C>G	ENSP00000172853:p.Lys5873Asn					NEB_ENST00000604864.1_Missense_Mutation_p.K7574N|NEB_ENST00000172853.10_Missense_Mutation_p.K5873N|NEB_ENST00000427231.2_Missense_Mutation_p.K7574N|NEB_ENST00000409198.1_Missense_Mutation_p.K5873N|NEB_ENST00000603639.1_Missense_Mutation_p.K7574N	p.K7574N	NM_001164508.1	NP_001157980.1	P20929	NEBU_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.219)	156	22924	-			5873					F8WCL5|F8WCP0|Q15346|Q53QQ2|Q53TG8	Missense_Mutation	SNP	ENST00000172853.10	37	c.22722G>C		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	16.84|16.84	3.234843|3.234843	0.58886|0.58886	.|.	.|.	ENSG00000183091|ENSG00000183091	ENST00000409198;ENST00000397345;ENST00000427231;ENST00000397342;ENST00000413693;ENST00000172853|ENST00000434685	T;T;T;T;T|.	0.59638|.	1.44;1.44;1.44;0.25;1.44|.	5.7|5.7	4.82|4.82	0.62117|0.62117	.|.	0.147209|.	0.64402|.	D|.	0.000009|.	T|T	0.68586|0.68586	0.3017|0.3017	L|L	0.52759|0.52759	1.655|1.655	0.80722|0.80722	D|D	1|1	D;D;D|.	0.76494|.	0.996;0.967;0.999|.	P;P;D|.	0.85130|.	0.87;0.888;0.997|.	T|T	0.66716|0.66716	-0.5853|-0.5853	10|5	0.42905|.	T|.	0.14|.	.|.	16.6798|16.6798	0.85289|0.85289	0.0:0.8702:0.1298:0.0|0.0:0.8702:0.1298:0.0	.|.	5873;7574;2304|.	P20929;F8WCP0;Q14215|.	NEBU_HUMAN;.;.|.	N|T	5873;7574;7574;1922;2304;5873|197	ENSP00000386259:K5873N;ENSP00000380505:K7574N;ENSP00000416578:K7574N;ENSP00000410961:K2304N;ENSP00000172853:K5873N|.	ENSP00000172853:K5873N|.	K|R	-|-	3|2	2|0	NEB|NEB	152083156|152083156	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.929000|0.929000	0.56500|0.56500	3.192000|3.192000	0.50989|0.50989	1.392000|1.392000	0.46585|0.46585	-0.175000|-0.175000	0.13238|0.13238	AAG|AGA		0.433	NEB-201	KNOWN	basic	protein_coding	protein_coding		NM_004543		9	311	0	0	0	0.361761	0	9	311				
RBM12B	389677	broad.mit.edu	37	8	94747956	94747956	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr8:94747956C>T	ENST00000399300.2	-	3	896	c.683G>A	c.(682-684)gGa>gAa	p.G228E	RP11-10N23.4_ENST00000517998.1_RNA|RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Missense_Mutation_p.G228E	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	228	RRM 1. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TTGTTCTGATCCTTGCATTAC	0.383																																						ENST00000399300.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30						c.(682-684)gGa>gAa		RNA binding motif protein 12B							165.0	154.0	158.0					8																	94747956		1919	4122	6041	SO:0001583	missense	389677						nucleotide binding|RNA binding	g.chr8:94747956C>T		CCDS43755.1	8q22	2014-05-20			ENSG00000183808	ENSG00000183808		"""RNA binding motif (RRM) containing"""	32310	protein-coding gene	gene with protein product							Standard	NM_203390		Approved		uc003yfz.3	Q8IXT5	OTTHUMG00000164317	ENST00000399300.2:c.683G>A	8.37:g.94747956C>T	ENSP00000382239:p.Gly228Glu					RBM12B_ENST00000517700.1_Missense_Mutation_p.G228E|RBM12B_ENST00000520961.1_Intron	p.G228E	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.0168)		3	896	-	Breast(36;4.14e-07)		228			RRM 1.		A8MYB5	Missense_Mutation	SNP	ENST00000399300.2	37	c.683G>A	CCDS43755.1	.	.	.	.	.	.	.	.	.	.	C	13.80	2.345830	0.41599	.	.	ENSG00000183808	ENST00000399300;ENST00000517700	T;T	0.29397	1.57;1.57	5.35	4.42	0.53409	Nucleotide-binding, alpha-beta plait (1);RNA recognition motif domain (1);	0.203306	0.34268	N	0.004108	T	0.16769	0.0403	N	0.08118	0	0.30067	N	0.810383	B	0.31125	0.309	B	0.25140	0.058	T	0.14896	-1.0456	10	0.66056	D	0.02	-11.532	14.4094	0.67106	0.0:0.7718:0.2282:0.0	.	228	Q8IXT5	RB12B_HUMAN	E	228	ENSP00000382239:G228E;ENSP00000427729:G228E	ENSP00000382239:G228E	G	-	2	0	RBM12B	94817132	0.781000	0.28676	1.000000	0.80357	0.998000	0.95712	1.028000	0.30128	2.667000	0.90743	0.585000	0.79938	GGA		0.383	RBM12B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383603.1	NM_203390		20	147	0	0	0	0.608945	0	20	147				
OR7A17	26333	broad.mit.edu	37	19	14992008	14992008	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr19:14992008G>C	ENST00000327462.2	-	1	256	c.160C>G	c.(160-162)Cac>Gac	p.H54D		NM_030901.1	NP_112163.1	O14581	OR7AH_HUMAN	olfactory receptor, family 7, subfamily A, member 17	54						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12	Ovarian(108;0.203)					GTGTGGAGGTGGGAGTCTGAG	0.502																																						ENST00000327462.2																			0				breast(1)|cervix(1)|large_intestine(2)|lung(6)|prostate(1)|skin(1)	12						c.(160-162)Cac>Gac		olfactory receptor, family 7, subfamily A, member 17							70.0	62.0	65.0					19																	14992008		2203	4297	6500	SO:0001583	missense	26333				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:14992008G>C	X64993	CCDS12319.1	19p13.12	2012-08-09				ENSG00000185385		"""GPCR / Class A : Olfactory receptors"""	8363	protein-coding gene	gene with protein product						1370859	Standard	NM_030901		Approved	HTPCRX19	uc010xob.2	O14581		ENST00000327462.2:c.160C>G	19.37:g.14992008G>C	ENSP00000328144:p.His54Asp						p.H54D	NM_030901.1	NP_112163.1	O14581	OR7AH_HUMAN			1	256	-	Ovarian(108;0.203)		54					Q6IFQ6|Q96R98	Missense_Mutation	SNP	ENST00000327462.2	37	c.160C>G	CCDS12319.1	.	.	.	.	.	.	.	.	.	.	g	12.75	2.032030	0.35893	.	.	ENSG00000185385	ENST00000327462	T	0.00784	5.7	2.74	1.62	0.23740	GPCR, rhodopsin-like superfamily (1);	0.183993	0.25813	U	0.028139	T	0.04952	0.0133	H	0.94847	3.59	0.19775	N	0.999959	P	0.51240	0.943	P	0.61874	0.895	T	0.03739	-1.1008	10	0.87932	D	0	.	8.7709	0.34731	0.0:0.0:0.7723:0.2277	.	54	O14581	OR7AH_HUMAN	D	54	ENSP00000328144:H54D	ENSP00000328144:H54D	H	-	1	0	OR7A17	14853008	0.000000	0.05858	0.978000	0.43139	0.632000	0.37999	0.250000	0.18235	0.687000	0.31509	0.395000	0.25975	CAC		0.502	OR7A17-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466523.1	NM_030901		6	111	0	0	0	0.217242	0	6	111				
RBM12B	389677	broad.mit.edu	37	8	94747854	94747854	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr8:94747854C>G	ENST00000399300.2	-	3	998	c.785G>C	c.(784-786)aGa>aCa	p.R262T	RP11-10N23.4_ENST00000517998.1_RNA|RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Missense_Mutation_p.R262T	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	262							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			TCGAAAATGTCTATCATTAAT	0.398																																						ENST00000399300.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30						c.(784-786)aGa>aCa		RNA binding motif protein 12B							120.0	111.0	114.0					8																	94747854		1854	4098	5952	SO:0001583	missense	389677						nucleotide binding|RNA binding	g.chr8:94747854C>G		CCDS43755.1	8q22	2014-05-20			ENSG00000183808	ENSG00000183808		"""RNA binding motif (RRM) containing"""	32310	protein-coding gene	gene with protein product							Standard	NM_203390		Approved		uc003yfz.3	Q8IXT5	OTTHUMG00000164317	ENST00000399300.2:c.785G>C	8.37:g.94747854C>G	ENSP00000382239:p.Arg262Thr					RBM12B_ENST00000517700.1_Missense_Mutation_p.R262T|RBM12B_ENST00000520961.1_Intron	p.R262T	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.0168)		3	998	-	Breast(36;4.14e-07)		262					A8MYB5	Missense_Mutation	SNP	ENST00000399300.2	37	c.785G>C	CCDS43755.1	.	.	.	.	.	.	.	.	.	.	C	14.93	2.683665	0.47991	.	.	ENSG00000183808	ENST00000399300;ENST00000517700	T;T	0.07908	3.15;3.17	5.36	3.45	0.39498	.	0.368879	0.25564	N	0.029809	T	0.05914	0.0154	L	0.36672	1.1	0.29260	N	0.871381	P	0.43231	0.801	B	0.34180	0.177	T	0.15896	-1.0421	10	0.51188	T	0.08	-19.504	8.7596	0.34667	0.1245:0.5255:0.3499:0.0	.	262	Q8IXT5	RB12B_HUMAN	T	262	ENSP00000382239:R262T;ENSP00000427729:R262T	ENSP00000382239:R262T	R	-	2	0	RBM12B	94817030	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	1.750000	0.38329	2.672000	0.90937	0.591000	0.81541	AGA		0.398	RBM12B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383603.1	NM_203390		12	105	0	0	0	0.387290	0	12	105				
BCAS1	8537	broad.mit.edu	37	20	52611567	52611567	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr20:52611567T>C	ENST00000395961.3	-	6	1077	c.911A>G	c.(910-912)aAg>aGg	p.K304R	BCAS1_ENST00000371435.2_Missense_Mutation_p.K304R|BCAS1_ENST00000371440.3_Missense_Mutation_p.K304R|BCAS1_ENST00000434986.2_Missense_Mutation_p.K17R	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	breast carcinoma amplified sequence 1	304						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)			TTCTGGGTCCTTTTTTGTTTC	0.338																																						ENST00000395961.3																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(23)|ovary(2)|skin(2)|stomach(1)|urinary_tract(1)	37						c.(910-912)aAg>aGg		breast carcinoma amplified sequence 1							181.0	194.0	190.0					20																	52611567		2203	4300	6503	SO:0001583	missense	8537					cytoplasm	protein binding	g.chr20:52611567T>C	AF041260	CCDS13444.1	20q13.2	2006-11-10			ENSG00000064787	ENSG00000064787			974	protein-coding gene	gene with protein product		602968				9671742	Standard	NM_003657		Approved	NABC1, AIBC1	uc002xws.2	O75363	OTTHUMG00000032772	ENST00000395961.3:c.911A>G	20.37:g.52611567T>C	ENSP00000379290:p.Lys304Arg					BCAS1_ENST00000371440.3_Missense_Mutation_p.K304R|BCAS1_ENST00000371435.2_Missense_Mutation_p.K304R|BCAS1_ENST00000434986.2_Missense_Mutation_p.K17R	p.K304R	NM_003657.2	NP_003648.2	O75363	BCAS1_HUMAN	STAD - Stomach adenocarcinoma(23;0.116)|Colorectal(105;0.198)		6	1077	-	Breast(2;9.53e-15)|Lung NSC(4;5.57e-06)|all_lung(4;1.44e-05)		304					A0AVG5|Q68CZ3	Missense_Mutation	SNP	ENST00000395961.3	37	c.911A>G	CCDS13444.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.45|13.45	2.239362|2.239362	0.39598|0.39598	.|.	.|.	ENSG00000064787|ENSG00000064787	ENST00000448484;ENST00000371440;ENST00000448710;ENST00000395961;ENST00000371435;ENST00000434986|ENST00000422805	T;T;T;T;T|.	0.10192|.	2.9;2.9;2.9;2.9;2.9|.	5.84|5.84	3.41|3.41	0.39046|0.39046	.|.	0.358614|.	0.30302|.	N|.	0.009932|.	T|T	0.59018|0.59018	0.2163|0.2163	M|M	0.61703|0.61703	1.905|1.905	0.80722|0.80722	D|D	1|1	B;D;B;P;P;P|.	0.63880|.	0.169;0.993;0.169;0.475;0.472;0.472|.	B;P;B;B;B;B|.	0.58520|.	0.091;0.84;0.091;0.113;0.151;0.151|.	T|T	0.55848|0.55848	-0.8076|-0.8076	10|5	0.33940|.	T|.	0.23|.	-18.232|-18.232	5.7268|5.7268	0.18018|0.18018	0.0:0.1652:0.1567:0.6781|0.0:0.1652:0.1567:0.6781	.|.	304;17;304;304;304;304|.	B2RCQ5;B4DFL4;O75363-2;G3XAF7;A0AVG7;O75363|.	.;.;.;.;.;BCAS1_HUMAN|.	R|G	166;304;182;304;304;17|23	ENSP00000396361:K166R;ENSP00000360495:K304R;ENSP00000379290:K304R;ENSP00000360490:K304R;ENSP00000409956:K17R|.	ENSP00000360490:K304R|.	K|R	-|-	2|1	0|2	BCAS1|BCAS1	52044974|52044974	1.000000|1.000000	0.71417|0.71417	0.959000|0.959000	0.39883|0.39883	0.943000|0.943000	0.58893|0.58893	1.024000|1.024000	0.30077|0.30077	1.027000|1.027000	0.39758|0.39758	0.533000|0.533000	0.62120|0.62120	AAG|AGG		0.338	BCAS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079766.2	NM_003657		4	250	0	0	0	0.184627	0	4	250				
UNC13B	10497	broad.mit.edu	37	9	35366984	35366984	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr9:35366984C>T	ENST00000378495.3	+	11	1430	c.1208C>T	c.(1207-1209)cCg>cTg	p.P403L	UNC13B_ENST00000378496.4_Missense_Mutation_p.P403L|UNC13B_ENST00000396787.1_Missense_Mutation_p.P415L	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	unc-13 homolog B (C. elegans)	403					apoptotic process (GO:0006915)|excretion (GO:0007588)|innervation (GO:0060384)|intracellular signal transduction (GO:0035556)|neuromuscular junction development (GO:0007528)|positive regulation of inhibitory postsynaptic membrane potential (GO:0097151)|positive regulation of synaptic vesicle priming (GO:0010808)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|synaptic vesicle docking involved in exocytosis (GO:0016081)|synaptic vesicle priming (GO:0016082)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|neuromuscular junction (GO:0031594)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)|terminal bouton (GO:0043195)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)|receptor activity (GO:0004872)|signal transducer activity (GO:0004871)			breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63	all_epithelial(49;0.212)		LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)			CAGTGGCTCCCGGAAGGGTAA	0.448																																						ENST00000378495.3																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(16)|liver(2)|lung(17)|ovary(3)|pancreas(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(3)|urinary_tract(1)	63						c.(1207-1209)cCg>cTg		unc-13 homolog B (C. elegans)							121.0	112.0	115.0					9																	35366984		2203	4300	6503	SO:0001583	missense	10497				excretion|induction of apoptosis|intracellular signal transduction	cell junction|Golgi apparatus|synapse	metal ion binding|receptor activity	g.chr9:35366984C>T	AF020202	CCDS6579.1	9p13.3	2008-05-15	2003-10-17	2003-10-17	ENSG00000198722	ENSG00000198722			12566	protein-coding gene	gene with protein product		605836	"""unc-13-like (C. elegans)"""	UNC13		9607201	Standard	NM_006377		Approved	hmunc13, Unc13h2	uc003zwq.3	O14795	OTTHUMG00000019856	ENST00000378495.3:c.1208C>T	9.37:g.35366984C>T	ENSP00000367756:p.Pro403Leu					UNC13B_ENST00000396787.1_Missense_Mutation_p.P415L|UNC13B_ENST00000378496.4_Missense_Mutation_p.P403L	p.P403L	NM_006377.3	NP_006368.3	O14795	UN13B_HUMAN	LUSC - Lung squamous cell carcinoma(32;0.00343)|Lung(28;0.00778)|STAD - Stomach adenocarcinoma(86;0.194)		11	1430	+	all_epithelial(49;0.212)		403					Q5VYM8	Missense_Mutation	SNP	ENST00000378495.3	37	c.1208C>T	CCDS6579.1	.	.	.	.	.	.	.	.	.	.	C	11.78	1.741120	0.30865	.	.	ENSG00000198722	ENST00000396787;ENST00000378495;ENST00000378496	D;D;D	0.83335	-1.58;-1.51;-1.71	5.87	4.92	0.64577	.	0.311253	0.31335	N	0.007827	T	0.55210	0.1906	N	0.03608	-0.345	0.44694	D	0.997685	P;P	0.43352	0.512;0.804	B;B	0.31101	0.054;0.124	T	0.64706	-0.6344	10	0.07813	T	0.8	-12.1465	11.9154	0.52763	0.2664:0.7336:0.0:0.0	.	403;403	F8W8M9;O14795	.;UN13B_HUMAN	L	415;403;403	ENSP00000380006:P415L;ENSP00000367756:P403L;ENSP00000367757:P403L	ENSP00000367756:P403L	P	+	2	0	UNC13B	35356984	0.996000	0.38824	0.995000	0.50966	0.792000	0.44763	3.558000	0.53749	2.785000	0.95823	0.655000	0.94253	CCG		0.448	UNC13B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000052296.1	NM_006377		39	48	0	0	0	0.834066	0	39	48				
RBM12B	389677	broad.mit.edu	37	8	94747221	94747221	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr8:94747221C>G	ENST00000399300.2	-	3	1631	c.1418G>C	c.(1417-1419)aGa>aCa	p.R473T	RP11-10N23.4_ENST00000517998.1_RNA|RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Missense_Mutation_p.R473T	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	473	RRM 3. {ECO:0000255|PROSITE- ProRule:PRU00176}.						nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			AGATATAAGTCTTAATAACAC	0.423																																						ENST00000399300.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30						c.(1417-1419)aGa>aCa		RNA binding motif protein 12B							144.0	140.0	141.0					8																	94747221		1855	4094	5949	SO:0001583	missense	389677						nucleotide binding|RNA binding	g.chr8:94747221C>G		CCDS43755.1	8q22	2014-05-20			ENSG00000183808	ENSG00000183808		"""RNA binding motif (RRM) containing"""	32310	protein-coding gene	gene with protein product							Standard	NM_203390		Approved		uc003yfz.3	Q8IXT5	OTTHUMG00000164317	ENST00000399300.2:c.1418G>C	8.37:g.94747221C>G	ENSP00000382239:p.Arg473Thr					RBM12B_ENST00000517700.1_Missense_Mutation_p.R473T|RBM12B_ENST00000520961.1_Intron	p.R473T	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.0168)		3	1631	-	Breast(36;4.14e-07)		473			RRM 3.		A8MYB5	Missense_Mutation	SNP	ENST00000399300.2	37	c.1418G>C	CCDS43755.1	.	.	.	.	.	.	.	.	.	.	C	16.23	3.064931	0.55432	.	.	ENSG00000183808	ENST00000399300;ENST00000517700	T;T	0.06068	3.35;3.35	5.22	5.22	0.72569	RNA recognition motif domain (2);	0.000000	0.64402	D	0.000001	T	0.10423	0.0255	L	0.35854	1.095	0.48395	D	0.999645	P	0.48911	0.917	P	0.47206	0.541	T	0.11251	-1.0595	10	0.35671	T	0.21	-17.8501	19.1358	0.93428	0.0:1.0:0.0:0.0	.	473	Q8IXT5	RB12B_HUMAN	T	473	ENSP00000382239:R473T;ENSP00000427729:R473T	ENSP00000382239:R473T	R	-	2	0	RBM12B	94816397	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	4.565000	0.60836	2.584000	0.87258	0.591000	0.81541	AGA		0.423	RBM12B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383603.1	NM_203390		35	211	0	0	0	0.796494	0	35	211				
ITGB2	3689	broad.mit.edu	37	21	46309270	46309270	+	Missense_Mutation	SNP	C	C	T			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr21:46309270C>T	ENST00000397850.2	-	14	2250	c.1798G>A	c.(1798-1800)Gta>Ata	p.V600I	ITGB2_ENST00000397857.1_Missense_Mutation_p.V600I|ITGB2_ENST00000397852.1_Missense_Mutation_p.V600I|ITGB2_ENST00000397854.3_Missense_Mutation_p.V543I|ITGB2_ENST00000355153.4_Missense_Mutation_p.V600I|ITGB2_ENST00000302347.5_Missense_Mutation_p.V600I			P05107	ITB2_HUMAN	integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	600	Cysteine-rich tandem repeats.				apoptotic process (GO:0006915)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell-cell signaling (GO:0007267)|cell-matrix adhesion (GO:0007160)|endodermal cell differentiation (GO:0035987)|extracellular matrix organization (GO:0030198)|heterotypic cell-cell adhesion (GO:0034113)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|neutrophil chemotaxis (GO:0030593)|receptor clustering (GO:0043113)|regulation of cell shape (GO:0008360)|regulation of immune response (GO:0050776)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|extracellular vesicular exosome (GO:0070062)|integrin alphaL-beta2 complex (GO:0034687)|integrin complex (GO:0008305)|membrane (GO:0016020)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)|vesicle (GO:0031982)	cell adhesion molecule binding (GO:0050839)|glycoprotein binding (GO:0001948)|ICAM-3 receptor activity (GO:0030369)|metal ion binding (GO:0046872)|protein kinase binding (GO:0019901)			breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35				Colorectal(79;0.0669)	Simvastatin(DB00641)	CACTCGCATACGTTGCAGCGG	0.657																																						ENST00000397850.2																			0				breast(2)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(6)|lung(14)|ovary(4)|skin(3)	35						c.(1798-1800)Gta>Ata		integrin, beta 2 (complement component 3 receptor 3 and 4 subunit)	Simvastatin(DB00641)						59.0	46.0	50.0					21																	46309270		2202	4300	6502	SO:0001583	missense	3689				apoptosis|blood coagulation|cell-cell signaling|cell-matrix adhesion|inflammatory response|integrin-mediated signaling pathway|leukocyte cell-cell adhesion|multicellular organismal development|neutrophil chemotaxis|regulation of cell shape|regulation of immune response|regulation of peptidyl-tyrosine phosphorylation	integrin complex	glycoprotein binding|protein kinase binding|receptor activity	g.chr21:46309270C>T	AK222505	CCDS13716.1	21q22.3	2014-09-17	2006-03-02		ENSG00000160255	ENSG00000160255		"""CD molecules"", ""Complement system"", ""Integrins"""	6155	protein-coding gene	gene with protein product		600065	"""integrin, beta 2 (antigen CD18 (p95), lymphocyte function-associated antigen 1; macrophage antigen 1 (mac-1) beta subunit)"""	CD18, MFI7			Standard	NM_000211		Approved	LFA-1, MAC-1	uc002zgf.3	P05107	OTTHUMG00000090257	ENST00000397850.2:c.1798G>A	21.37:g.46309270C>T	ENSP00000380948:p.Val600Ile					ITGB2_ENST00000397857.1_Missense_Mutation_p.V600I|ITGB2_ENST00000355153.4_Missense_Mutation_p.V600I|ITGB2_ENST00000302347.5_Missense_Mutation_p.V600I|ITGB2_ENST00000397854.3_Missense_Mutation_p.V543I|ITGB2_ENST00000397852.1_Missense_Mutation_p.V600I	p.V600I			P05107	ITB2_HUMAN		Colorectal(79;0.0669)	14	2250	-			600			Cysteine-rich tandem repeats.		B3KTS8|D3DSM1|Q16418|Q53HS5|Q9UD72	Missense_Mutation	SNP	ENST00000397850.2	37	c.1798G>A	CCDS13716.1	.	.	.	.	.	.	.	.	.	.	C	11.29	1.594399	0.28445	.	.	ENSG00000160255	ENST00000397852;ENST00000397857;ENST00000397854;ENST00000355153;ENST00000397850;ENST00000302347	D;D;D;D;D;D	0.92595	-3.07;-3.07;-3.07;-3.07;-3.07;-3.07	4.7	-1.32	0.09201	.	.	.	.	.	T	0.79890	0.4524	N	0.25426	0.745	0.09310	N	1	P;B	0.43231	0.801;0.214	B;B	0.29077	0.098;0.019	T	0.71140	-0.4679	9	0.46703	T	0.11	.	4.0617	0.09841	0.0:0.2667:0.3484:0.3849	.	543;600	A8MYE6;P05107	.;ITB2_HUMAN	I	600;600;543;600;600;600	ENSP00000380950:V600I;ENSP00000380955:V600I;ENSP00000380952:V543I;ENSP00000347279:V600I;ENSP00000380948:V600I;ENSP00000303242:V600I	ENSP00000303242:V600I	V	-	1	0	ITGB2	45133698	0.000000	0.05858	0.005000	0.12908	0.004000	0.04260	-0.272000	0.08560	-0.208000	0.10171	-0.165000	0.13383	GTA		0.657	ITGB2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206566.2	NM_000211		3	37	0	0	0	0.150653	0	3	37				
MYO10	4651	broad.mit.edu	37	5	16694556	16694556	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr5:16694556G>A	ENST00000513610.1	-	27	4178	c.3724C>T	c.(3724-3726)Cgc>Tgc	p.R1242C	MYO10_ENST00000515803.1_Missense_Mutation_p.R581C|MYO10_ENST00000505695.1_Missense_Mutation_p.R581C|MYO10_ENST00000274203.9_Missense_Mutation_p.R599C|MYO10_ENST00000427430.2_Missense_Mutation_p.R599C	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN	myosin X	1242	PH 1. {ECO:0000255|PROSITE- ProRule:PRU00145}.				ATP catabolic process (GO:0006200)|axon guidance (GO:0007411)|cytoskeleton-dependent intracellular transport (GO:0030705)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|regulation of cell shape (GO:0008360)|regulation of filopodium assembly (GO:0051489)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|phosphatidylinositol-3,4,5-trisphosphate binding (GO:0005547)|plus-end directed microfilament motor activity (GO:0060002)|spectrin binding (GO:0030507)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						TTGGACTGGCGGAGGACAAAC	0.567																																						ENST00000513610.1																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(19)|lung(28)|ovary(2)|pancreas(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	86						c.(3724-3726)Cgc>Tgc		myosin X							116.0	117.0	117.0					5																	16694556		1971	4159	6130	SO:0001583	missense	4651				axon guidance|signal transduction	myosin complex	actin binding|ATP binding|motor activity	g.chr5:16694556G>A	AF247457	CCDS54834.1	5p15.1-p14.3	2013-01-10				ENSG00000145555		"""Myosins / Myosin superfamily : Class X"", ""Pleckstrin homology (PH) domain containing"""	7593	protein-coding gene	gene with protein product		601481				8884266	Standard	NM_012334		Approved	KIAA0799	uc003jft.4	Q9HD67		ENST00000513610.1:c.3724C>T	5.37:g.16694556G>A	ENSP00000421280:p.Arg1242Cys					MYO10_ENST00000515803.1_Missense_Mutation_p.R581C|MYO10_ENST00000505695.1_Missense_Mutation_p.R581C|MYO10_ENST00000427430.2_Missense_Mutation_p.R599C|MYO10_ENST00000274203.9_Missense_Mutation_p.R599C	p.R1242C	NM_012334.2	NP_036466.2	Q9HD67	MYO10_HUMAN			27	4178	-			1242			PH 1.		A7E2D1|O94893|Q8IVX5|Q9NYM7|Q9P110|Q9P111|Q9UHF6	Missense_Mutation	SNP	ENST00000513610.1	37	c.3724C>T	CCDS54834.1	.	.	.	.	.	.	.	.	.	.	G	23.3	4.404878	0.83230	.	.	ENSG00000145555	ENST00000513610;ENST00000515803;ENST00000274203;ENST00000505695;ENST00000427430	T;T;T;T;T	0.77098	-1.07;-1.07;-1.07;-1.07;-1.07	5.48	5.48	0.80851	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	.	.	.	.	D	0.89918	0.6854	M	0.89601	3.045	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.991;0.998;1.0	D	0.91663	0.5344	9	0.87932	D	0	.	15.1124	0.72368	0.0:0.0:0.8499:0.1501	.	121;883;1242	B4DIJ5;Q69YP8;Q9HD67	.;.;MYO10_HUMAN	C	1242;581;599;581;599	ENSP00000421280:R1242C;ENSP00000425051:R581C;ENSP00000274203:R599C;ENSP00000421170:R581C;ENSP00000391106:R599C	ENSP00000274203:R599C	R	-	1	0	MYO10	16747556	1.000000	0.71417	1.000000	0.80357	1.000000	0.99986	4.523000	0.60545	2.575000	0.86900	0.655000	0.94253	CGC		0.567	MYO10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366167.1	NM_012334		4	221	0	0	0	0.150653	0	4	221				
PFKL	5211	broad.mit.edu	37	21	45746603	45746603	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr21:45746603G>A	ENST00000349048.4	+	22	2256	c.2201G>A	c.(2200-2202)cGc>cAc	p.R734H	AP001062.8_ENST00000422357.1_RNA|PFKL_ENST00000403390.1_Missense_Mutation_p.R781H	NM_002626.4	NP_002617.3	P17858	PFKAL_HUMAN	phosphofructokinase, liver	734	C-terminal regulatory PFK domain 2.				carbohydrate metabolic process (GO:0005975)|carbohydrate phosphorylation (GO:0046835)|fructose 1,6-bisphosphate metabolic process (GO:0030388)|fructose 6-phosphate metabolic process (GO:0006002)|glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|negative regulation of insulin secretion (GO:0046676)|protein homotetramerization (GO:0051289)|protein oligomerization (GO:0051259)|response to glucose (GO:0009749)|small molecule metabolic process (GO:0044281)	6-phosphofructokinase complex (GO:0005945)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	6-phosphofructokinase activity (GO:0003872)|ATP binding (GO:0005524)|fructose binding (GO:0070061)|fructose-6-phosphate binding (GO:0070095)|identical protein binding (GO:0042802)|kinase binding (GO:0019900)|metal ion binding (GO:0046872)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23				Colorectal(79;0.0811)		CACAGGCACCGCATGCCACGG	0.667																																						ENST00000403390.1																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(2341-2343)cGc>cAc		phosphofructokinase, liver							29.0	24.0	25.0					21																	45746603		2201	4294	6495	SO:0001583	missense	5211				fructose 6-phosphate metabolic process|glycolysis|protein oligomerization	6-phosphofructokinase complex	6-phosphofructokinase activity|ATP binding|fructose-6-phosphate binding|identical protein binding|kinase binding|metal ion binding	g.chr21:45746603G>A		CCDS33582.1	21q22.3	1992-12-17			ENSG00000141959	ENSG00000141959	2.7.1.11		8876	protein-coding gene	gene with protein product		171860					Standard	NR_024108		Approved		uc002zel.3	P17858	OTTHUMG00000086910	ENST00000349048.4:c.2201G>A	21.37:g.45746603G>A	ENSP00000269848:p.Arg734His					PFKL_ENST00000349048.4_Missense_Mutation_p.R734H	p.R781H			P17858	K6PL_HUMAN		Colorectal(79;0.0811)	23	2342	+			734					Q96A64|Q96IH4|Q9BR91	Missense_Mutation	SNP	ENST00000349048.4	37	c.2342G>A	CCDS33582.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.605946	0.87157	.	.	ENSG00000141959	ENST00000349048;ENST00000534847;ENST00000403390	D;D	0.81739	-1.53;-1.53	3.55	3.55	0.40652	Phosphofructokinase domain (1);	0.000000	0.85682	U	0.000000	D	0.89876	0.6842	M	0.86864	2.845	0.80722	D	1	D;D	0.89917	1.0;0.998	D;P	0.71184	0.972;0.8	D	0.91977	0.5591	10	0.87932	D	0	-26.0932	14.2489	0.66007	0.0:0.0:1.0:0.0	.	734;781	P17858;P17858-2	K6PL_HUMAN;.	H	734;527;781	ENSP00000269848:R734H;ENSP00000384038:R781H	ENSP00000269848:R734H	R	+	2	0	PFKL	44571031	1.000000	0.71417	1.000000	0.80357	0.915000	0.54546	7.473000	0.81007	1.680000	0.50976	0.453000	0.30009	CGC		0.667	PFKL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195805.1			3	8	0	0	0	0.184627	0	3	8				
RGS3	5998	broad.mit.edu	37	9	116358026	116358026	+	Missense_Mutation	SNP	C	C	T	rs144334750		TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr9:116358026C>T	ENST00000374140.2	+	25	3601	c.3392C>T	c.(3391-3393)gCg>gTg	p.A1131V	RGS3_ENST00000350696.5_Missense_Mutation_p.A1131V|RGS3_ENST00000342620.5_Missense_Mutation_p.A101V|RGS3_ENST00000462403.1_Missense_Mutation_p.A244V|RGS3_ENST00000374134.3_Missense_Mutation_p.A452V|RGS3_ENST00000343817.5_Missense_Mutation_p.A850V|RGS3_ENST00000394646.3_Missense_Mutation_p.A524V|RGS3_ENST00000462143.1_Missense_Mutation_p.A452V	NM_001282923.1|NM_144488.4	NP_001269852.1|NP_652759.3	P49796	RGS3_HUMAN	regulator of G-protein signaling 3	1131	RGS. {ECO:0000255|PROSITE- ProRule:PRU00171}.				inactivation of MAPK activity (GO:0000188)|positive regulation of GTPase activity (GO:0043547)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTPase activator activity (GO:0005096)			cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						GAATACATCGCGATCCAGGCA	0.567																																						ENST00000374140.2																			0				cervix(1)|endometrium(3)|kidney(5)|large_intestine(11)|lung(22)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	48						c.(3391-3393)gCg>gTg		regulator of G-protein signaling 3		C	VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA,VAL/ALA	2,4404	4.2+/-10.8	0,2,2201	180.0	144.0	156.0		1355,2549,302,3392,731	5.5	0.5	9	dbSNP_134	156	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense,missense,missense	RGS3	NM_021106.3,NM_130795.2,NM_134427.1,NM_144488.4,NM_144489.2	64,64,64,64,64	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	probably-damaging,probably-damaging,probably-damaging,probably-damaging,probably-damaging	452/520,850/918,101/169,1131/1199,244/312	116358026	3,13003	2203	4300	6503	SO:0001583	missense	5998				inactivation of MAPK activity|regulation of G-protein coupled receptor protein signaling pathway	cytosol|nucleus|plasma membrane	GTPase activator activity|signal transducer activity	g.chr9:116358026C>T	AF006610	CCDS6797.1, CCDS6798.1, CCDS35113.1, CCDS35114.1, CCDS43869.1, CCDS65111.1	9q32	2008-02-05	2007-08-14		ENSG00000138835	ENSG00000138835		"""Regulators of G-protein signaling"""	9999	protein-coding gene	gene with protein product		602189	"""regulator of G-protein signalling 3"""			8602223, 11034339	Standard	NM_001276260		Approved	C2PA, FLJ20370, PDZ-RGS3	uc004bhq.4	P49796	OTTHUMG00000021048	ENST00000374140.2:c.3392C>T	9.37:g.116358026C>T	ENSP00000363255:p.Ala1131Val					RGS3_ENST00000394646.3_Missense_Mutation_p.A524V|RGS3_ENST00000350696.5_Missense_Mutation_p.A1131V|RGS3_ENST00000462143.1_Missense_Mutation_p.A452V|RGS3_ENST00000342620.5_Missense_Mutation_p.A101V|RGS3_ENST00000462403.1_Missense_Mutation_p.A244V|RGS3_ENST00000374134.3_Missense_Mutation_p.A452V|RGS3_ENST00000343817.5_Missense_Mutation_p.A850V	p.A1131V	NM_144488.4	NP_652759.3	P49796	RGS3_HUMAN			25	3601	+			1131			RGS.		A6NHA0|A8K0V1|B3KUB2|Q5VXB8|Q5VXC1|Q5VZ05|Q5VZ06|Q6ZRM5|Q8IUQ1|Q8NC47|Q8NFN4|Q8NFN5|Q8NFN6|Q8TD59|Q8TD68|Q8WV02|Q8WXA0	Missense_Mutation	SNP	ENST00000374140.2	37	c.3392C>T	CCDS43869.1	.	.	.	.	.	.	.	.	.	.	C	21.1	4.103554	0.76983	4.54E-4	1.16E-4	ENSG00000138835	ENST00000374140;ENST00000350696;ENST00000343817;ENST00000394646;ENST00000474719;ENST00000462143;ENST00000342620;ENST00000374134;ENST00000462403	T;T;T;T;T;T;T;T	0.02323	4.34;4.34;4.34;4.34;4.34;4.34;4.34;4.34	5.46	5.46	0.80206	Regulator of G protein signalling (4);Regulator of G protein signalling superfamily (1);	0.000000	0.64402	D	0.000001	T	0.13457	0.0326	M	0.62266	1.93	0.80722	D	1	D;P;D;D;D;D	0.89917	0.993;0.899;0.996;1.0;1.0;0.997	P;B;P;D;D;P	0.72625	0.488;0.245;0.636;0.966;0.978;0.57	T	0.00804	-1.1559	10	0.39692	T	0.17	.	18.3694	0.90402	0.0:1.0:0.0:0.0	.	524;244;1027;850;1021;1131	B3KUB2;Q5VZ06;P49796-6;P49796-4;B3KWG8;P49796	.;.;.;.;.;RGS3_HUMAN	V	1131;1131;850;524;299;452;101;452;244	ENSP00000363255:A1131V;ENSP00000259406:A1131V;ENSP00000340284:A850V;ENSP00000378141:A524V;ENSP00000420356:A452V;ENSP00000343359:A101V;ENSP00000363249:A452V;ENSP00000436168:A244V	ENSP00000343359:A101V	A	+	2	0	RGS3	115397847	1.000000	0.71417	0.507000	0.27676	0.603000	0.37013	5.778000	0.68940	2.564000	0.86499	0.456000	0.33151	GCG		0.567	RGS3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055561.3	NM_017790		27	51	0	0	0	0.706142	0	27	51				
CTAGE1	64693	broad.mit.edu	37	18	19997797	19997797	+	5'Flank	SNP	A	A	T			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr18:19997797A>T	ENST00000525417.1	-	0	0				CTAGE1_ENST00000391403.2_De_novo_Start_OutOfFrame			Q9HC47	CTGE1_HUMAN	cutaneous T-cell lymphoma-associated antigen 1							integral component of membrane (GO:0016021)				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)					TGCTGCCACAACCCTGCGTAG	0.547																																						ENST00000391403.2																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(1)|lung(19)|ovary(1)	27								cutaneous T-cell lymphoma-associated antigen 1							39.0	40.0	40.0					18																	19997797		2203	4300	6503	SO:0001631	upstream_gene_variant	64693					integral to membrane		g.chr18:19997797A>T	AF177229	CCDS45837.1	18q11.2	2010-05-26			ENSG00000212710	ENSG00000212710			24346	protein-coding gene	gene with protein product	"""cutaneous T-cell lymphoma-associated antigen 1"", ""cutaneous T-cell lymphoma-associated antigen 2"", ""cancer/testis antigen family 21, member 1"", ""cancer/testis antigen family 21, member 2"""	608856				11149944, 12839582	Standard	NM_172241		Approved	cTAGE-1, cTAGE-2, CTAGE, CT21.1, CT21.2	uc002ktv.1	Q96RT6			18.37:g.19997797A>T	Exception_encountered							NM_172241.2	NP_758441.2	Q96RT6	CTGE2_HUMAN			0	81	-	all_cancers(21;0.000361)|all_epithelial(16;9.61e-06)|Colorectal(14;0.0533)|Lung NSC(20;0.0605)|Ovarian(2;0.116)|all_lung(20;0.135)							B0YIZ3	Translation_Start_Site	SNP	ENST00000525417.1	37																																																																																						0.547	CTAGE1-002	KNOWN	basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000386767.1	NM_022663, NM_172241		5	30	0	0	0	0.248553	0	5	30				
ITPR2	3709	broad.mit.edu	37	12	26752943	26752943	+	Missense_Mutation	SNP	G	G	C			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr12:26752943G>C	ENST00000381340.3	-	29	4194	c.3778C>G	c.(3778-3780)Ctg>Gtg	p.L1260V		NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN	inositol 1,4,5-trisphosphate receptor, type 2	1260					activation of phospholipase C activity (GO:0007202)|blood coagulation (GO:0007596)|cellular response to cAMP (GO:0071320)|cellular response to ethanol (GO:0071361)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|inositol phosphate-mediated signaling (GO:0048016)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|regulation of insulin secretion (GO:0050796)|response to hypoxia (GO:0001666)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|transport (GO:0006810)	cell cortex (GO:0005938)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|platelet dense tubular network membrane (GO:0031095)|receptor complex (GO:0043235)|sarcoplasmic reticulum membrane (GO:0033017)	calcium ion transmembrane transporter activity (GO:0015085)|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity (GO:0005220)|phosphatidylinositol binding (GO:0035091)		ETV6/ITPR2(2)	biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125	Colorectal(261;0.0847)				Caffeine(DB00201)	AACAAATTCAGATGTTTATGA	0.328																																						ENST00000381340.3																		ETV6/ITPR2(2)	0				biliary_tract(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(16)|large_intestine(20)|liver(1)|lung(51)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	125						c.(3778-3780)Ctg>Gtg		inositol 1,4,5-trisphosphate receptor, type 2							92.0	85.0	87.0					12																	26752943		1820	4068	5888	SO:0001583	missense	3709				activation of phospholipase C activity|energy reserve metabolic process|nerve growth factor receptor signaling pathway|platelet activation|regulation of insulin secretion|response to hypoxia	integral to membrane|plasma membrane enriched fraction|platelet dense tubular network membrane|sarcoplasmic reticulum membrane	calcium ion transmembrane transporter activity|inositol 1,4,5-trisphosphate-sensitive calcium-release channel activity	g.chr12:26752943G>C	D26350	CCDS41764.1	12p11.23	2014-07-18	2011-04-28		ENSG00000123104	ENSG00000123104		"""Ion channels / Inositol triphosphate receptors"""	6181	protein-coding gene	gene with protein product	"""cilia and flagella associated protein 48"""	600144	"""inositol 1,4,5-triphosphate receptor, type 2"""			8081734	Standard	XM_006719064		Approved	IP3R2, CFAP48	uc001rhg.3	Q14571	OTTHUMG00000169181	ENST00000381340.3:c.3778C>G	12.37:g.26752943G>C	ENSP00000370744:p.Leu1260Val						p.L1260V	NM_002223.2	NP_002214.2	Q14571	ITPR2_HUMAN			29	4194	-	Colorectal(261;0.0847)		1260					O94773	Missense_Mutation	SNP	ENST00000381340.3	37	c.3778C>G	CCDS41764.1	.	.	.	.	.	.	.	.	.	.	G	13.52	2.261817	0.39995	.	.	ENSG00000123104	ENST00000381340	T	0.79033	-1.23	4.24	3.26	0.37387	Intracellular calcium-release channel (1);	0.068093	0.64402	D	0.000011	T	0.81245	0.4782	L	0.41356	1.27	0.80722	D	1	D	0.76494	0.999	D	0.76575	0.988	T	0.80336	-0.1425	10	0.44086	T	0.13	.	12.1863	0.54241	0.0:0.0:0.7236:0.2764	.	1260	Q14571	ITPR2_HUMAN	V	1260	ENSP00000370744:L1260V	ENSP00000370744:L1260V	L	-	1	2	ITPR2	26644210	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.725000	0.54970	2.365000	0.80145	0.650000	0.86243	CTG		0.328	ITPR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402732.1	NM_002223		9	38	0	0	0	0.361761	0	9	38				
VPS13D	55187	broad.mit.edu	37	1	12378242	12378242	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr1:12378242A>G	ENST00000358136.3	+	31	7392	c.7262A>G	c.(7261-7263)aAg>aGg	p.K2421R	VPS13D_ENST00000356315.4_Missense_Mutation_p.K2421R	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		AGTGATATTAAGAAACAAAAT	0.428																																						ENST00000358136.3																			0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(7261-7263)aAg>aGg		vacuolar protein sorting 13 homolog D (S. cerevisiae)							161.0	155.0	157.0					1																	12378242		2203	4300	6503	SO:0001583	missense	55187				protein localization			g.chr1:12378242A>G	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.7262A>G	1.37:g.12378242A>G	ENSP00000350854:p.Lys2421Arg					VPS13D_ENST00000356315.4_Missense_Mutation_p.K2421R	p.K2421R	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	31	7392	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	2421						Missense_Mutation	SNP	ENST00000358136.3	37	c.7262A>G	CCDS30588.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	8.538|8.538	0.872578|0.872578	0.17322|0.17322	.|.	.|.	ENSG00000048707|ENSG00000048707	ENST00000356315;ENST00000358136|ENST00000011700	T;T|.	0.45668|.	0.89;0.89|.	5.39|5.39	5.39|5.39	0.77823|0.77823	.|.	0.589506|.	0.15893|.	N|.	0.239448|.	T|T	0.35307|0.35307	0.0927|0.0927	N|N	0.08118|0.08118	0|0	0.80722|0.80722	D|D	1|1	B;B;B|.	0.24576|.	0.006;0.106;0.065|.	B;B;B|.	0.17722|.	0.003;0.019;0.009|.	T|T	0.25916|0.25916	-1.0118|-1.0118	10|5	0.19590|.	T|.	0.45|.	.|.	10.8743|10.8743	0.46902|0.46902	0.9263:0.0:0.0737:0.0|0.9263:0.0:0.0737:0.0	.|.	328;2421;2421|.	B1AJZ2;Q5THJ4-2;Q5THJ4|.	.;.;VP13D_HUMAN|.	R|G	2421|1244	ENSP00000348666:K2421R;ENSP00000350854:K2421R|.	ENSP00000348666:K2421R|.	K|R	+|+	2|1	0|2	VPS13D|VPS13D	12300829|12300829	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.445000|0.445000	0.32107|0.32107	3.712000|3.712000	0.54875|0.54875	2.162000|2.162000	0.67917|0.67917	0.460000|0.460000	0.39030|0.39030	AAG|AGA		0.428	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		4	173	0	0	0	0.150653	0	4	173				
OR13G1	441933	broad.mit.edu	37	1	247835572	247835572	+	Missense_Mutation	SNP	G	G	T	rs117404602	byFrequency	TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr1:247835572G>T	ENST00000359688.2	-	1	793	c.772C>A	c.(772-774)Cgc>Agc	p.R258S	RP11-634B7.4_ENST00000449298.1_RNA	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	olfactory receptor, family 13, subfamily G, member 1	258						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		OV - Ovarian serous cystadenocarcinoma(106;0.017)			GAAGCAGGGCGGATATAGGTG	0.463																																						ENST00000359688.2																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(28)|skin(2)	35						c.(772-774)Cgc>Agc		olfactory receptor, family 13, subfamily G, member 1							138.0	124.0	128.0					1																	247835572		2203	4300	6503	SO:0001583	missense	441933				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247835572G>T	AB065623	CCDS31094.1	1q44	2012-08-09			ENSG00000197437	ENSG00000197437		"""GPCR / Class A : Olfactory receptors"""	14999	protein-coding gene	gene with protein product		611677					Standard	NM_001005487		Approved		uc001idi.1	Q8NGZ3	OTTHUMG00000040212	ENST00000359688.2:c.772C>A	1.37:g.247835572G>T	ENSP00000352717:p.Arg258Ser					RP11-634B7.4_ENST00000449298.1_RNA	p.R258S	NM_001005487.1	NP_001005487.1	Q8NGZ3	O13G1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.017)		1	793	-	all_cancers(71;3.24e-05)|all_epithelial(71;1.3e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0662)|Lung NSC(105;0.0724)		258					B2RN80|Q5T2T2|Q6IF86	Missense_Mutation	SNP	ENST00000359688.2	37	c.772C>A	CCDS31094.1	.	.	.	.	.	.	.	.	.	.	G	4.672	0.124927	0.08931	.	.	ENSG00000197437	ENST00000359688	T	0.36520	1.25	4.2	1.2	0.21068	GPCR, rhodopsin-like superfamily (1);	0.000000	0.43416	D	0.000580	T	0.16300	0.0392	N	0.11000	0.08	0.09310	N	0.999996	B	0.16802	0.019	B	0.21546	0.035	T	0.15235	-1.0444	10	0.30854	T	0.27	-14.7377	5.0552	0.14529	0.1892:0.0:0.6441:0.1667	.	258	Q8NGZ3	O13G1_HUMAN	S	258	ENSP00000352717:R258S	ENSP00000352717:R258S	R	-	1	0	OR13G1	245902195	0.000000	0.05858	0.007000	0.13788	0.965000	0.64279	0.235000	0.17948	0.148000	0.19059	0.563000	0.77884	CGC		0.463	OR13G1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096869.1	NM_001005487		43	49	1	0	4.44401e-20	0.853193	4.68864e-20	43	49				
RBM12B	389677	broad.mit.edu	37	8	94747940	94747940	+	Missense_Mutation	SNP	C	C	A			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr8:94747940C>A	ENST00000399300.2	-	3	912	c.699G>T	c.(697-699)tgG>tgT	p.W233C	RP11-10N23.4_ENST00000517998.1_RNA|RBM12B_ENST00000520961.1_Intron|RBM12B_ENST00000517700.1_Missense_Mutation_p.W233C	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	RNA binding motif protein 12B	233							nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30	Breast(36;4.14e-07)		BRCA - Breast invasive adenocarcinoma(8;0.0168)			CAAACTCAATCCACTGTTGTT	0.373																																						ENST00000399300.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(10)|lung(7)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(2)	30						c.(697-699)tgG>tgT		RNA binding motif protein 12B							167.0	155.0	159.0					8																	94747940		1918	4124	6042	SO:0001583	missense	389677						nucleotide binding|RNA binding	g.chr8:94747940C>A		CCDS43755.1	8q22	2014-05-20			ENSG00000183808	ENSG00000183808		"""RNA binding motif (RRM) containing"""	32310	protein-coding gene	gene with protein product							Standard	NM_203390		Approved		uc003yfz.3	Q8IXT5	OTTHUMG00000164317	ENST00000399300.2:c.699G>T	8.37:g.94747940C>A	ENSP00000382239:p.Trp233Cys					RBM12B_ENST00000517700.1_Missense_Mutation_p.W233C|RBM12B_ENST00000520961.1_Intron	p.W233C	NM_203390.2	NP_976324.2	Q8IXT5	RB12B_HUMAN	BRCA - Breast invasive adenocarcinoma(8;0.0168)		3	912	-	Breast(36;4.14e-07)		233					A8MYB5	Missense_Mutation	SNP	ENST00000399300.2	37	c.699G>T	CCDS43755.1	.	.	.	.	.	.	.	.	.	.	C	16.77	3.214237	0.58452	.	.	ENSG00000183808	ENST00000399300;ENST00000517700	T;T	0.29397	1.57;1.57	5.35	5.35	0.76521	.	0.000000	0.56097	D	0.000028	T	0.53610	0.1807	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.85130	0.997	T	0.54002	-0.8358	10	0.87932	D	0	-16.0119	19.0393	0.92992	0.0:1.0:0.0:0.0	.	233	Q8IXT5	RB12B_HUMAN	C	233	ENSP00000382239:W233C;ENSP00000427729:W233C	ENSP00000382239:W233C	W	-	3	0	RBM12B	94817116	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.842000	0.48230	2.667000	0.90743	0.585000	0.79938	TGG		0.373	RBM12B-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383603.1	NM_203390		21	133	1	0	6.44725e-10	0.624587	6.74031e-10	21	133				
PDHA2	5161	broad.mit.edu	37	4	96762461	96762461	+	Missense_Mutation	SNP	T	T	C			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr4:96762461T>C	ENST00000295266.4	+	1	1223	c.1160T>C	c.(1159-1161)gTc>gCc	p.V387A		NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN	pyruvate dehydrogenase (lipoamide) alpha 2	387					glucose metabolic process (GO:0006006)|glycolytic process (GO:0006096)|pyruvate metabolic process (GO:0006090)|tricarboxylic acid cycle (GO:0006099)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	pyruvate dehydrogenase (acetyl-transferring) activity (GO:0004739)			NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)		TTTAAGTCCGTCAGTTAAAGG	0.398																																						ENST00000295266.4																			0				NS(2)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(11)|lung(23)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	46						c.(1159-1161)gTc>gCc		pyruvate dehydrogenase (lipoamide) alpha 2	NADH(DB00157)						84.0	78.0	80.0					4																	96762461		2203	4300	6503	SO:0001583	missense	5161				glycolysis	mitochondrial matrix	pyruvate dehydrogenase (acetyl-transferring) activity	g.chr4:96762461T>C		CCDS3644.1	4q22-q23	2009-11-09			ENSG00000163114	ENSG00000163114	1.2.4.1		8807	protein-coding gene	gene with protein product		179061		PDHAL			Standard	NM_005390		Approved		uc003htr.4	P29803	OTTHUMG00000130990	ENST00000295266.4:c.1160T>C	4.37:g.96762461T>C	ENSP00000295266:p.Val387Ala						p.V387A	NM_005390.4	NP_005381.1	P29803	ODPAT_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;1.23e-06)	1	1223	+		Hepatocellular(203;0.114)	387					B2R9Q3|Q0VDI5|Q4VC02|Q6NXQ1	Missense_Mutation	SNP	ENST00000295266.4	37	c.1160T>C	CCDS3644.1	.	.	.	.	.	.	.	.	.	.	T	7.752	0.703555	0.15172	.	.	ENSG00000163114	ENST00000295266	D	0.97731	-4.51	4.72	3.51	0.40186	.	0.785486	0.11944	N	0.514349	D	0.93828	0.8026	L	0.34521	1.04	0.20307	N	0.999919	B	0.02656	0.0	B	0.06405	0.002	D	0.87239	0.2265	10	0.45353	T	0.12	-27.282	4.2587	0.10730	0.1768:0.0938:0.0:0.7294	.	387	P29803	ODPAT_HUMAN	A	387	ENSP00000295266:V387A	ENSP00000295266:V387A	V	+	2	0	PDHA2	96981484	0.402000	0.25311	0.081000	0.20488	0.269000	0.26545	2.325000	0.43840	0.911000	0.36747	0.379000	0.24179	GTC		0.398	PDHA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253608.1			44	63	0	0	0	0.870114	0	44	63				
GALR1	2587	broad.mit.edu	37	18	74980584	74980584	+	Missense_Mutation	SNP	C	C	G			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr18:74980584C>G	ENST00000299727.3	+	3	776	c.776C>G	c.(775-777)tCc>tGc	p.S259C		NM_001480.3	NP_001471.2	P47211	GALR1_HUMAN	galanin receptor 1	259					adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|digestion (GO:0007586)|negative regulation of adenylate cyclase activity (GO:0007194)|neuropeptide signaling pathway (GO:0007218)|positive regulation of cortisol secretion (GO:0051464)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	galanin receptor activity (GO:0004966)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)		TTTGGAATCTCCTGGCTGCCG	0.567																																						ENST00000299727.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(13)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(775-777)tCc>tGc		galanin receptor 1							130.0	131.0	130.0					18																	74980584		2203	4300	6503	SO:0001583	missense	2587				digestion|negative regulation of adenylate cyclase activity	integral to membrane|plasma membrane	galanin receptor activity	g.chr18:74980584C>G	U90658	CCDS12012.1	18q23	2012-08-08			ENSG00000166573	ENSG00000166573		"""GPCR / Class A : Galanin receptors"""	4132	protein-coding gene	gene with protein product		600377		GALNR1, GALNR		7524088	Standard	NM_001480		Approved		uc002lms.4	P47211	OTTHUMG00000132875	ENST00000299727.3:c.776C>G	18.37:g.74980584C>G	ENSP00000299727:p.Ser259Cys						p.S259C	NM_001480.3	NP_001471.2	P47211	GALR1_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;1.03e-06)|BRCA - Breast invasive adenocarcinoma(31;0.104)	3	776	+		Prostate(75;0.0865)|Esophageal squamous(42;0.129)|Melanoma(33;0.211)	259					Q4VBL7	Missense_Mutation	SNP	ENST00000299727.3	37	c.776C>G	CCDS12012.1	.	.	.	.	.	.	.	.	.	.	C	0.512	-0.866018	0.02590	.	.	ENSG00000166573	ENST00000299727	T	0.25912	1.77	4.74	4.74	0.60224	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.09862	0.0242	N	0.01482	-0.84	0.80722	D	1	B	0.14012	0.009	B	0.20955	0.032	T	0.17899	-1.0354	10	0.02654	T	1	.	17.3364	0.87282	0.0:1.0:0.0:0.0	.	259	P47211	GALR1_HUMAN	C	259	ENSP00000299727:S259C	ENSP00000299727:S259C	S	+	2	0	GALR1	73109572	1.000000	0.71417	0.997000	0.53966	0.087000	0.18053	7.535000	0.82014	2.189000	0.69895	0.563000	0.77884	TCC		0.567	GALR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256362.1			40	172	0	0	0	0.834066	0	40	172				
ZNF613	79898	broad.mit.edu	37	19	52447902	52447902	+	Missense_Mutation	SNP	G	G	A			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr19:52447902G>A	ENST00000293471.6	+	6	1445	c.766G>A	c.(766-768)Gga>Aga	p.G256R	ZNF613_ENST00000391794.4_Missense_Mutation_p.G220R	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN	zinc finger protein 613	256					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19		all_neural(266;0.117)		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)		AAACCACACAGGAGAGAAACC	0.458																																						ENST00000293471.6																			0				breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)|urinary_tract(1)	19						c.(766-768)Gga>Aga		zinc finger protein 613							84.0	91.0	88.0					19																	52447902		2203	4300	6503	SO:0001583	missense	79898				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52447902G>A	AK027565	CCDS12844.1, CCDS33089.1	19q13.41	2013-01-08						"""Zinc fingers, C2H2-type"", ""-"""	25827	protein-coding gene	gene with protein product						12477932	Standard	NM_001031721		Approved	FLJ13590	uc002pxz.2	Q6PF04		ENST00000293471.6:c.766G>A	19.37:g.52447902G>A	ENSP00000293471:p.Gly256Arg					ZNF613_ENST00000391794.4_Missense_Mutation_p.G220R	p.G256R	NM_001031721.3	NP_001026891.2	Q6PF04	ZN613_HUMAN		GBM - Glioblastoma multiforme(134;0.00148)|OV - Ovarian serous cystadenocarcinoma(262;0.0183)	6	1445	+		all_neural(266;0.117)	256					Q96SS9	Missense_Mutation	SNP	ENST00000293471.6	37	c.766G>A	CCDS33089.1	.	.	.	.	.	.	.	.	.	.	G	5.078	0.200058	0.09652	.	.	ENSG00000176024	ENST00000293471;ENST00000391794	T;T	0.26223	1.75;1.75	3.1	-0.895	0.10560	Zinc finger, C2H2 (1);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.951568	0.08515	N	0.934368	T	0.22205	0.0535	L	0.42529	1.33	0.26392	N	0.976551	B	0.29646	0.253	B	0.34722	0.188	T	0.37979	-0.9682	10	0.40728	T	0.16	.	6.5687	0.22527	0.1143:0.3671:0.5186:0.0	.	256	Q6PF04	ZN613_HUMAN	R	256;220	ENSP00000293471:G256R;ENSP00000375671:G220R	ENSP00000293471:G256R	G	+	1	0	ZNF613	57139714	0.737000	0.28175	0.006000	0.13384	0.026000	0.11368	1.420000	0.34804	-0.200000	0.10300	-0.211000	0.12701	GGA		0.458	ZNF613-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461104.2	NM_024840		49	103	0	0	0	0.864702	0	49	103				
LRIG2	9860	broad.mit.edu	37	1	113637236	113637236	+	Missense_Mutation	SNP	A	A	G			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr1:113637236A>G	ENST00000361127.5	+	6	860	c.662A>G	c.(661-663)gAa>gGa	p.E221G		NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN	leucine-rich repeats and immunoglobulin-like domains 2	221					innervation (GO:0060384)|regulation of platelet-derived growth factor receptor signaling pathway (GO:0010640)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)		TGTTAAAGGGAACTTAAAAGA	0.303																																						ENST00000361127.4																			0				breast(1)|endometrium(2)|kidney(7)|large_intestine(3)|lung(10)|ovary(4)|prostate(2)|stomach(1)|urinary_tract(1)	31						c.(661-663)gAa>gGa		leucine-rich repeats and immunoglobulin-like domains 2							58.0	63.0	61.0					1																	113637236		2200	4296	6496	SO:0001583	missense	9860					cytoplasm|integral to membrane|plasma membrane		g.chr1:113637236A>G	AB018349	CCDS30808.1	1p13.1	2013-01-11			ENSG00000198799	ENSG00000198799		"""Immunoglobulin superfamily / I-set domain containing"""	20889	protein-coding gene	gene with protein product		608869					Standard	XM_005271369		Approved	KIAA0806	uc001edf.1	O94898	OTTHUMG00000012133	ENST00000361127.5:c.662A>G	1.37:g.113637236A>G	ENSP00000355396:p.Glu221Gly						p.E221G	NM_014813.1	NP_055628.1	O94898	LRIG2_HUMAN		Lung(183;0.0279)|Colorectal(144;0.0885)|COAD - Colon adenocarcinoma(174;0.134)|all cancers(265;0.139)|Epithelial(280;0.143)|LUSC - Lung squamous cell carcinoma(189;0.15)	6	860	+	Lung SC(450;0.246)	all_cancers(81;1.56e-05)|all_epithelial(167;2.62e-05)|all_lung(203;0.000665)|Lung NSC(69;0.000986)	221					Q9NSN2	Missense_Mutation	SNP	ENST00000361127.5	37	c.662A>G	CCDS30808.1	.	.	.	.	.	.	.	.	.	.	A	25.6	4.657167	0.88154	.	.	ENSG00000198799	ENST00000361127	T	0.25085	1.82	5.94	5.94	0.96194	.	0.000000	0.85682	D	0.000000	T	0.32852	0.0843	L	0.42529	1.33	0.80722	D	1	D	0.63046	0.992	D	0.63703	0.917	T	0.06588	-1.0818	10	0.62326	D	0.03	.	16.3985	0.83631	1.0:0.0:0.0:0.0	.	221	O94898	LRIG2_HUMAN	G	221	ENSP00000355396:E221G	ENSP00000355396:E221G	E	+	2	0	LRIG2	113438759	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.281000	0.95811	2.274000	0.75844	0.519000	0.50382	GAA		0.303	LRIG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033549.2	NM_014813		21	71	0	0	0	0.624587	0	21	71				
NOTCH2	4853	broad.mit.edu	37	1	120612003	120612004	+	Frame_Shift_Del	DEL	GG	GG	-	rs372504208		TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr1:120612003_120612004delGG	ENST00000256646.2	-	1	236_237	c.17_18delCC	c.(16-18)cccfs	p.P6fs		NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN	notch 2	6					apoptotic process (GO:0006915)|atrial septum morphogenesis (GO:0060413)|bone remodeling (GO:0046849)|cell cycle arrest (GO:0007050)|cell fate determination (GO:0001709)|cell growth (GO:0016049)|ciliary body morphogenesis (GO:0061073)|determination of left/right symmetry (GO:0007368)|embryonic limb morphogenesis (GO:0030326)|gene expression (GO:0010467)|hemopoiesis (GO:0030097)|humoral immune response (GO:0006959)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|intracellular receptor signaling pathway (GO:0030522)|morphogenesis of an epithelial sheet (GO:0002011)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|nervous system development (GO:0007399)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|organ morphogenesis (GO:0009887)|placenta blood vessel development (GO:0060674)|positive regulation of apoptotic process (GO:0043065)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Ras protein signal transduction (GO:0046579)|pulmonary valve morphogenesis (GO:0003184)|regulation of transcription, DNA-templated (GO:0006355)|stem cell maintenance (GO:0019827)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cell surface (GO:0009986)|cilium (GO:0005929)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|ligand-activated RNA polymerase II transcription factor binding transcription factor activity (GO:0038049)|receptor activity (GO:0004872)	p.P6fs*27(2)		breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)		ACAGCAGAGCGGGGCGCAGGGC	0.762			"""N, F, Mis"""		"""marginal zone lymphoma, DLBCL"""				Alagille Syndrome																													ENST00000256646.2				Dom	yes		1	1p13-p11	4853	"""N, F, Mis"""	Notch homolog 2			L			"""marginal zone lymphoma, DLBCL"""		2	Deletion - Frameshift(2)	p.P6fs*27(2)	haematopoietic_and_lymphoid_tissue(1)|central_nervous_system(1)	breast(4)|central_nervous_system(6)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(9)|kidney(9)|large_intestine(19)|liver(1)|lung(57)|ovary(4)|pancreas(1)|prostate(7)|skin(24)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	158						c.(16-18)cfs		notch 2																																				SO:0001589	frameshift_variant	4853	Alagille Syndrome	Familial Cancer Database	ALGS1, ALGS2.Alagille-Watson syndrome	anti-apoptosis|bone remodeling|cell cycle arrest|cell fate determination|cell growth|hemopoiesis|induction of apoptosis|negative regulation of cell proliferation|nervous system development|Notch receptor processing|Notch signaling pathway|organ morphogenesis|positive regulation of Ras protein signal transduction|regulation of transcription, DNA-dependent|stem cell maintenance|transcription, DNA-dependent	cell surface|cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to plasma membrane|nucleoplasm	calcium ion binding|ligand-regulated transcription factor activity|protein binding|receptor activity	g.chr1:120612003_120612004delGG	AF315356	CCDS908.1	1p13-p11	2013-01-10	2010-06-24		ENSG00000134250	ENSG00000134250		"""Ankyrin repeat domain containing"""	7882	protein-coding gene	gene with protein product		600275	"""Notch (Drosophila) homolog 2"", ""Notch homolog 2 (Drosophila)"""			7698746	Standard	NM_001200001		Approved		uc001eik.3	Q04721	OTTHUMG00000012177	ENST00000256646.2:c.17_18delCC	1.37:g.120612005_120612006delGG	ENSP00000256646:p.Pro6fs						p.P6fs	NM_024408.3	NP_077719.2	Q04721	NOTC2_HUMAN		Lung(183;0.0242)|LUSC - Lung squamous cell carcinoma(189;0.133)	1	236_237	-	all_neural(166;0.153)	all_lung(203;1.96e-06)|Lung NSC(69;1.47e-05)|all_epithelial(167;0.000809)	6					Q5T3X7|Q99734|Q9H240	Frame_Shift_Del	DEL	ENST00000256646.2	37	c.17_18delCC	CCDS908.1																																																																																				0.762	NOTCH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033679.1	NM_024408		7	29						7	29	---	---	---	---
PBRM1	55193	broad.mit.edu	37	3	52595944	52595944	+	Frame_Shift_Del	DEL	C	C	-			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr3:52595944delC	ENST00000296302.7	-	25	4128	c.4127delG	c.(4126-4128)ggcfs	p.G1376fs	SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000394830.3_Frame_Shift_Del_p.G1324fs|RNU6ATAC16P_ENST00000408591.1_RNA|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.G1376fs|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.G1351fs|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.G1376fs|PBRM1_ENST00000409767.1_Frame_Shift_Del_p.G1391fs|PBRM1_ENST00000356770.4_Frame_Shift_Del_p.G1344fs|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.G1391fs			Q86U86	PB1_HUMAN	polybromo 1	1376					chromatin remodeling (GO:0006338)|heart development (GO:0007507)|mitotic nuclear division (GO:0007067)|negative regulation of cell proliferation (GO:0008285)|placenta development (GO:0001890)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	kinetochore (GO:0000776)|nuclear chromosome (GO:0000228)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335				BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)		CCGTTTGGAGCCTTCCTTCTT	0.463			"""Mis, N, F, S, D, O"""		"""clear cell renal carcinoma, breast"""																																	ENST00000356770.4				Rec	yes		3	3p21	55193	"""Mis, N, F, S, D, O"""	polybromo 1			E			"""clear cell renal carcinoma, breast"""		0				breast(5)|endometrium(5)|kidney(301)|liver(1)|lung(22)|pancreas(1)	335						c.(4030-4032)gcfs		polybromo 1							167.0	166.0	166.0					3																	52595944		2203	4300	6503	SO:0001589	frameshift_variant	55193				chromatin remodeling|mitosis|negative regulation of cell proliferation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nuclear chromosome	chromatin binding|DNA binding|protein binding	g.chr3:52595944delC	BC015323	CCDS43099.1	3p21	2007-03-29			ENSG00000163939	ENSG00000163939			30064	protein-coding gene	gene with protein product		606083				11078522, 11483580	Standard	NM_018313		Approved	BAF180, PB1	uc003der.2	Q86U86	OTTHUMG00000152663	ENST00000296302.7:c.4127delG	3.37:g.52595944delC	ENSP00000296302:p.Gly1376fs					PBRM1_ENST00000296302.7_Frame_Shift_Del_p.G1376fs|PBRM1_ENST00000409057.1_Frame_Shift_Del_p.G1376fs|SMIM4_ENST00000476842.1_Intron|PBRM1_ENST00000409767.1_Frame_Shift_Del_p.G1391fs|PBRM1_ENST00000409114.3_Frame_Shift_Del_p.G1391fs|PBRM1_ENST00000394830.3_Frame_Shift_Del_p.G1324fs|PBRM1_ENST00000337303.4_Frame_Shift_Del_p.G1376fs|PBRM1_ENST00000410007.1_Frame_Shift_Del_p.G1351fs	p.G1344fs			Q86U86	PB1_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.8e-05)|Kidney(197;0.00105)|KIRC - Kidney renal clear cell carcinoma(197;0.00122)|OV - Ovarian serous cystadenocarcinoma(275;0.0613)	24	4033	-			1376					A1L381|A1L382|A4FUJ7|Q1RMD1|Q1RMD2|Q96MS2|Q9H2T3|Q9H2T4|Q9H2T5|Q9H301|Q9H314	Frame_Shift_Del	DEL	ENST00000296302.7	37	c.4031delG																																																																																					0.463	PBRM1-008	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000327232.1	NM_018165		82	100						82	100	---	---	---	---
RASA1	5921	broad.mit.edu	37	5	86627234	86627238	+	Frame_Shift_Del	DEL	TTATC	TTATC	-	rs377014568	byFrequency	TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr5:86627234_86627238delTTATC	ENST00000274376.6	+	2	1173_1177	c.609_613delTTATC	c.(607-615)agttatcttfs	p.YL204fs	RASA1_ENST00000512763.1_Frame_Shift_Del_p.YL37fs|RASA1_ENST00000506290.1_Frame_Shift_Del_p.YL38fs|RASA1_ENST00000456692.2_Frame_Shift_Del_p.YL27fs	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	204	SH2 1. {ECO:0000255|PROSITE- ProRule:PRU00191}.				blood vessel morphogenesis (GO:0048514)|embryo development (GO:0009790)|intracellular signal transduction (GO:0035556)|mitotic cytokinesis (GO:0000281)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|regulation of RNA metabolic process (GO:0051252)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|ruffle (GO:0001726)	glycoprotein binding (GO:0001948)|GTPase binding (GO:0051020)|potassium channel inhibitor activity (GO:0019870)|Ras GTPase activator activity (GO:0005099)|receptor binding (GO:0005102)			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		AGTCTGGCAGTTATCTTATAAGAGA	0.415																																						ENST00000456692.2																			0				NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48	GRCh37	CD084202	RASA1	D		c.(76-84)agttfs		RAS p21 protein activator (GTPase activating protein) 1																																				SO:0001589	frameshift_variant	5921				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding	g.chr5:86627234_86627238delTTATC		CCDS34200.1, CCDS47243.1	5q13	2013-02-14			ENSG00000145715	ENSG00000145715		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	9871	protein-coding gene	gene with protein product	"""capillary malformation-arteriovenous malformation"""	139150		RASA		15917201	Standard	NM_022650		Approved	GAP, CM-AVM, p120GAP, p120RASGAP	uc003kiw.3	P20936	OTTHUMG00000162605	ENST00000274376.6:c.609_613delTTATC	5.37:g.86627234_86627238delTTATC	ENSP00000274376:p.Tyr204fs					RASA1_ENST00000512763.1_Frame_Shift_Del_p.SYL36fs|RASA1_ENST00000506290.1_Frame_Shift_Del_p.SYL37fs|RASA1_ENST00000274376.6_Frame_Shift_Del_p.SYL203fs	p.SYL26fs	NM_022650.2	NP_072179.1	P20936	RASA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)	2	193_197	+		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)	203					B2R6W3|Q9UDI1	Frame_Shift_Del	DEL	ENST00000274376.6	37	c.78_82delTTATC	CCDS34200.1																																																																																				0.415	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369729.1	NM_002890		14	69						14	69	---	---	---	---
WRNIP1	56897	broad.mit.edu	37	6	2770460	2770463	+	Frame_Shift_Del	DEL	TGAT	TGAT	-	rs144020288		TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr6:2770460_2770463delTGAT	ENST00000380773.4	+	3	1330_1333	c.1121_1124delTGAT	c.(1120-1125)gtgattfs	p.VI374fs	WRNIP1_ENST00000380769.4_Frame_Shift_Del_p.VI154fs|WRNIP1_ENST00000380771.4_Frame_Shift_Del_p.VI349fs|WRNIP1_ENST00000380764.1_5'UTR	NM_020135.2	NP_064520.2			Werner helicase interacting protein 1											breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14	Ovarian(93;0.0412)	all_hematologic(90;0.0895)				CGCTGTCGAGTGATTGTTCTTGAG	0.52																																						ENST00000380769.4																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(1)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(460-465)gtfs		Werner helicase interacting protein 1																																				SO:0001589	frameshift_variant	56897				DNA replication|DNA synthesis involved in DNA repair|regulation of DNA-dependent DNA replication initiation	mitochondrion|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|DNA binding|metal ion binding|protein binding	g.chr6:2770460_2770463delTGAT	AB056152	CCDS4475.1, CCDS4476.1	6p25.2	2010-04-21			ENSG00000124535	ENSG00000124535		"""ATPases / AAA-type"""	20876	protein-coding gene	gene with protein product		608196				11301316	Standard	NM_020135		Approved	WHIP, FLJ22526, bA420G6.2	uc003mtz.3	Q96S55	OTTHUMG00000014126	ENST00000380773.4:c.1121_1124delTGAT	6.37:g.2770460_2770463delTGAT	ENSP00000370150:p.Val374fs					WRNIP1_ENST00000380773.4_Frame_Shift_Del_p.VI374fs|WRNIP1_ENST00000380771.4_Frame_Shift_Del_p.VI349fs|WRNIP1_ENST00000380764.1_5'UTR	p.VI154fs			Q96S55	WRIP1_HUMAN			3	692_695	+	Ovarian(93;0.0412)	all_hematologic(90;0.0895)	374						Frame_Shift_Del	DEL	ENST00000380773.4	37	c.461_464delTGAT	CCDS4475.1																																																																																				0.520	WRNIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039641.1	NM_130395		7	173						7	173	---	---	---	---
TRERF1	55809	broad.mit.edu	37	6	42196333	42196333	+	Frame_Shift_Del	DEL	T	T	-			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr6:42196333delT	ENST00000372922.4	-	18	3915	c.3353delA	c.(3352-3354)aagfs	p.K1118fs	TRERF1_ENST00000372917.4_Frame_Shift_Del_p.K1047fs|TRERF1_ENST00000340840.2_Frame_Shift_Del_p.K1047fs|TRERF1_ENST00000354325.2_Frame_Shift_Del_p.K1035fs|TRERF1_ENST00000541110.1_Frame_Shift_Del_p.K1138fs	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	1118	Interacts with CREBBP.				cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTTCTGAGCCTTTTGCCTCTG	0.542																																						ENST00000541110.1																			0				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45						c.(3412-3414)agfs		transcriptional regulating factor 1							245.0	274.0	264.0					6																	42196333		2203	4300	6503	SO:0001589	frameshift_variant	55809				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	g.chr6:42196333delT	AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"""breast cancer anti-estrogen resistance 2"""	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.3353delA	6.37:g.42196333delT	ENSP00000362013:p.Lys1118fs					TRERF1_ENST00000340840.2_Frame_Shift_Del_p.K1047fs|TRERF1_ENST00000354325.2_Frame_Shift_Del_p.K1035fs|TRERF1_ENST00000372922.4_Frame_Shift_Del_p.K1118fs|TRERF1_ENST00000372917.4_Frame_Shift_Del_p.K1047fs	p.K1138fs			Q96PN7	TREF1_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		18	3981	-	Colorectal(47;0.196)		1118			Interacts with CREBBP.		Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	Frame_Shift_Del	DEL	ENST00000372922.4	37	c.3413delA	CCDS4867.1																																																																																				0.542	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040551.2	NM_033502		7	801						7	801	---	---	---	---
DENND4C	55667	broad.mit.edu	37	9	19360274	19360274	+	Frame_Shift_Del	DEL	T	T	-			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr9:19360274delT	ENST00000380432.2	+	24	4371	c.4338delT	c.(4336-4338)cctfs	p.P1446fs	DENND4C_ENST00000434457.2_Frame_Shift_Del_p.P1731fs|DENND4C_ENST00000602925.1_Frame_Shift_Del_p.P1682fs			Q5VZ89	DEN4C_HUMAN	DENN/MADD domain containing 4C	1446					cellular response to insulin stimulus (GO:0032869)|positive regulation of Rab GTPase activity (GO:0032851)|protein localization to plasma membrane (GO:0072659)|protein transport (GO:0015031)	cytosol (GO:0005829)|insulin-responsive compartment (GO:0032593)|plasma membrane (GO:0005886)|retromer complex (GO:0030904)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						ATCCTCCCCCTGTTTCTGTGC	0.353																																						ENST00000307015.9																			0				breast(1)|endometrium(8)|kidney(1)|large_intestine(7)|liver(2)|lung(13)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(2755-2757)ccfs		DENN/MADD domain containing 4C							107.0	109.0	108.0					9																	19360274		2203	4300	6503	SO:0001589	frameshift_variant	55667					integral to membrane		g.chr9:19360274delT	AK000693	CCDS6491.2, CCDS6491.3	9p22.1	2012-10-03	2006-01-27	2006-01-27	ENSG00000137145	ENSG00000137145		"""DENN/MADD domain containing"""	26079	protein-coding gene	gene with protein product			"""chromosome 9 open reading frame 55B"", ""chromosome 9 open reading frame 55"""	C9orf55B, C9orf55		12906859	Standard	NM_017925		Approved	FLJ20686, bA513M16.3	uc031tcw.1	Q5VZ89	OTTHUMG00000019627	ENST00000380432.2:c.4338delT	9.37:g.19360274delT	ENSP00000369797:p.Pro1446fs					DENND4C_ENST00000540671.1_Frame_Shift_Del_p.P776fs|DENND4C_ENST00000602925.1_Frame_Shift_Del_p.P1682fs|DENND4C_ENST00000380432.2_Frame_Shift_Del_p.P1446fs|DENND4C_ENST00000434457.2_Frame_Shift_Del_p.P1731fs	p.P919fs			Q5VZ89	DEN4C_HUMAN			25	4509	+			1446					A2A3R1|A2A3R2|A2A3R3|A2A3R9|Q6AI48|Q6ZUB3|Q8NCY7|Q9H6N4|Q9NUT1|Q9NWA5|Q9NWT3	Frame_Shift_Del	DEL	ENST00000380432.2	37	c.2757delT																																																																																					0.353	DENND4C-201	KNOWN	basic	protein_coding	protein_coding		NM_017925		28	115						28	115	---	---	---	---
TUBBP5	643224	broad.mit.edu	37	9	141069809	141069809	+	RNA	DEL	T	T	-			TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr9:141069809delT	ENST00000503395.1	+	0	1023									tubulin, beta pseudogene 5																		CTCCCGTCTCTTGCAGTTCTG	0.662																																						ENST00000503395.1																			0																																																			0							g.chr9:141069809delT	AF355123		9q34.3	2012-03-06	2005-11-15		ENSG00000159247	ENSG00000159247			23674	pseudogene	pseudogene			"""tubulin, beta polypeptide pseudogene 5"""			11731935	Standard	NR_027156		Approved		uc010ncq.3		OTTHUMG00000021001		9.37:g.141069809delT														0	1023	+									RNA	DEL	ENST00000503395.1	37																																																																																						0.662	TUBBP5-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000373087.1	NR_027156		2	4						2	4	---	---	---	---
CTC-512J12.4	0	broad.mit.edu	37	19	44917435	44917436	+	RNA	INS	-	-	TCCG	rs190459210		TCGA-E1-5307-01A-01D-1893-08	TCGA-E1-5307-10A-01D-1893-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	e4b93592-7b90-4aab-9a5b-497b9d865c78	b9089424-6298-495f-afc9-604a38eddf01	g.chr19:44917435_44917436insTCCG	ENST00000588655.1	-	0	488																											TTCtccttccttctttccttcc	0.416																																						ENST00000588655.1																			0																																																			0							g.chr19:44917435_44917436insTCCG																													19.37:g.44917435_44917436insTCCG														0	488	-									RNA	INS	ENST00000588655.1	37																																																																																						0.416	CTC-512J12.4-001	KNOWN	NMD_likely_if_extended|basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000460829.1			2	4						2	4	---	---	---	---
