#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
FAM179B	23116	broad.mit.edu	37	14	45433228	45433228	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr14:45433228C>T	ENST00000361577.3	+	1	1818	c.1604C>T	c.(1603-1605)gCc>gTc	p.A535V	KLHL28_ENST00000553817.1_5'UTR|FAM179B_ENST00000382233.2_Missense_Mutation_p.A535V|KLHL28_ENST00000355081.2_5'Flank|FAM179B_ENST00000361462.2_Missense_Mutation_p.A535V|KLHL28_ENST00000396128.4_5'Flank	NM_015091.2	NP_055906.2	Q9Y4F4	F179B_HUMAN	family with sequence similarity 179, member B	535										endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						GAAGCTTTTGCCGTATTGGCA	0.453																																						ENST00000361462.2																			0				endometrium(4)|kidney(5)|large_intestine(12)|lung(16)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	45						c.(1603-1605)gCc>gTc		family with sequence similarity 179, member B							118.0	113.0	115.0					14																	45433228		2203	4300	6503	SO:0001583	missense	23116						binding	g.chr14:45433228C>T	AB007883	CCDS9681.1	14q21.3	2008-07-21	2008-07-21	2008-07-21	ENSG00000198718	ENSG00000198718			19959	protein-coding gene	gene with protein product			"""KIAA0423"""	KIAA0423			Standard	XM_005267451		Approved		uc001wvv.3	Q9Y4F4	OTTHUMG00000140264	ENST00000361577.3:c.1604C>T	14.37:g.45433228C>T	ENSP00000355045:p.Ala535Val					KLHL28_ENST00000553817.1_5'UTR|FAM179B_ENST00000382233.2_Missense_Mutation_p.A535V|FAM179B_ENST00000361577.3_Missense_Mutation_p.A535V	p.A535V			Q9Y4F4	F179B_HUMAN			1	1787	+			535					Q68D66|Q6PG27	Missense_Mutation	SNP	ENST00000361577.3	37	c.1604C>T	CCDS9681.1	.	.	.	.	.	.	.	.	.	.	C	22.0	4.232669	0.79688	.	.	ENSG00000198718	ENST00000429476;ENST00000361577;ENST00000361462;ENST00000382233	T;T;T	0.65549	-0.16;-0.16;-0.16	4.69	4.69	0.59074	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.64402	D	0.000002	T	0.72819	0.3508	L	0.45051	1.395	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.996;0.997;0.999;0.996	T	0.71731	-0.4504	10	0.38643	T	0.18	-12.067	17.4048	0.87470	0.0:1.0:0.0:0.0	.	535;535;535;535	Q9Y4F4-3;G3XAE9;Q9Y4F4;Q9Y4F4-2	.;.;F179B_HUMAN;.	V	535	ENSP00000355045:A535V;ENSP00000354917:A535V;ENSP00000371668:A535V	ENSP00000354917:A535V	A	+	2	0	FAM179B	44502978	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	7.364000	0.79526	2.427000	0.82271	0.561000	0.74099	GCC		0.453	FAM179B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000276791.1	XM_113781		4	145	0	0	0	0.009096	0	4	145				
GIN1	54826	broad.mit.edu	37	5	102444350	102444350	+	Missense_Mutation	SNP	G	G	C			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr5:102444350G>C	ENST00000399004.2	-	2	156	c.62C>G	c.(61-63)aCt>aGt	p.T21S	GIN1_ENST00000508629.1_Missense_Mutation_p.T21S	NM_017676.2	NP_060146.2	Q9NXP7	GIN1_HUMAN	gypsy retrotransposon integrase 1	21					DNA integration (GO:0015074)		nucleic acid binding (GO:0003676)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25		all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283)		Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794)		ATATTCACCAGTTCGTTTGTA	0.328																																						ENST00000399004.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(61-63)aCt>aGt		gypsy retrotransposon integrase 1							143.0	133.0	136.0					5																	102444350		1847	4094	5941	SO:0001583	missense	54826				DNA integration		DNA binding	g.chr5:102444350G>C	BC015325	CCDS43349.1	5q21.1	2008-02-11	2007-06-13	2007-06-13		ENSG00000145723			25959	protein-coding gene	gene with protein product	"""gypsy integrase 1"", ""Ty3/Gypsy integrase 1"""		"""zinc finger, H2C2 domain containing"""	ZH2C2		11470852	Standard	NM_017676		Approved	FLJ20125, GIN-1, TGIN1	uc003koa.1	Q9NXP7		ENST00000399004.2:c.62C>G	5.37:g.102444350G>C	ENSP00000381970:p.Thr21Ser					GIN1_ENST00000508629.1_Missense_Mutation_p.T21S	p.T21S	NM_017676.2	NP_060146.2	Q9NXP7	GIN1_HUMAN		Epithelial(69;3.57e-14)|COAD - Colon adenocarcinoma(37;0.00794)	2	156	-		all_cancers(142;3.23e-07)|all_epithelial(76;3.64e-10)|Prostate(80;0.00914)|Ovarian(225;0.0139)|Lung NSC(167;0.0212)|Colorectal(57;0.0249)|all_lung(232;0.0283)	21					B2RXF7|B4DIV4|Q6AI03|Q96BR2	Missense_Mutation	SNP	ENST00000399004.2	37	c.62C>G	CCDS43349.1	.	.	.	.	.	.	.	.	.	.	G	12.87	2.066931	0.36470	.	.	ENSG00000145723	ENST00000399004;ENST00000508629	T;T	0.22743	2.15;1.94	6.16	5.3	0.74995	.	0.000000	0.64402	D	0.000012	T	0.14270	0.0345	N	0.08118	0	0.31698	N	0.640996	P;P	0.46220	0.874;0.825	B;B	0.44163	0.443;0.393	T	0.05419	-1.0886	10	0.39692	T	0.17	-10.4056	14.1605	0.65443	0.0689:0.0:0.9311:0.0	.	21;21	Q9NXP7-3;Q9NXP7	.;GIN1_HUMAN	S	21	ENSP00000381970:T21S;ENSP00000427162:T21S	ENSP00000381970:T21S	T	-	2	0	GIN1	102472249	1.000000	0.71417	1.000000	0.80357	0.858000	0.48976	4.414000	0.59802	1.627000	0.50400	0.650000	0.86243	ACT		0.328	GIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000370478.3	NM_017676		3	46	0	0	0	0.004672	0	3	46				
FAIM2	23017	broad.mit.edu	37	12	50264321	50264321	+	Missense_Mutation	SNP	A	A	G			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr12:50264321A>G	ENST00000320634.3	-	12	1011	c.917T>C	c.(916-918)tTc>tCc	p.F306S	FAIM2_ENST00000550890.1_Missense_Mutation_p.F260S	NM_012306.3	NP_036438.2	Q9BWQ8	LFG2_HUMAN	Fas apoptotic inhibitory molecule 2	306					apoptotic process (GO:0006915)|cerebellar granular layer development (GO:0021681)|cerebellar Purkinje cell differentiation (GO:0021702)|cerebellar Purkinje cell layer development (GO:0021680)|cerebellum development (GO:0021549)|negative regulation of apoptotic process (GO:0043066)|negative regulation of apoptotic signaling pathway (GO:2001234)|negative regulation of neuron apoptotic process (GO:0043524)|regulation of neuron apoptotic process (GO:0043523)|response to ischemia (GO:0002931)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|postsynaptic membrane (GO:0045211)				endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|skin(2)	14						CTGCAGGAAGAAGGTGAAGAT	0.552																																						ENST00000320634.3																			0				endometrium(2)|large_intestine(4)|lung(4)|ovary(2)|skin(2)	14						c.(916-918)tTc>tCc		Fas apoptotic inhibitory molecule 2							102.0	89.0	94.0					12																	50264321		2203	4300	6503	SO:0001583	missense	23017				anti-apoptosis|apoptosis	cell junction|integral to membrane|postsynaptic membrane		g.chr12:50264321A>G	AB023167	CCDS8791.1	12q13	2010-03-18				ENSG00000135472			17067	protein-coding gene	gene with protein product	"""transmembrane BAX inhibitor motif containing 2"""	604306				10231032, 10535980	Standard	NM_012306		Approved	KIAA0950, LFG, NMP35, LIFEGUARD, TMBIM2, LFG2	uc001rvj.2	Q9BWQ8	OTTHUMG00000169808	ENST00000320634.3:c.917T>C	12.37:g.50264321A>G	ENSP00000321951:p.Phe306Ser					FAIM2_ENST00000550890.1_Missense_Mutation_p.F260S	p.F306S	NM_012306.3	NP_036438.2	Q9BWQ8	FAIM2_HUMAN			12	1011	-			306					A8K1W6|B3KR08|Q9UJY9|Q9Y2F7	Missense_Mutation	SNP	ENST00000320634.3	37	c.917T>C	CCDS8791.1	.	.	.	.	.	.	.	.	.	.	A	25.4	4.637146	0.87760	.	.	ENSG00000135472	ENST00000320634;ENST00000550890;ENST00000550635;ENST00000552669	T;T;T	0.40225	1.04;1.04;1.04	4.88	4.88	0.63580	.	0.000000	0.85682	D	0.000000	T	0.55705	0.1937	L	0.49571	1.57	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.51529	-0.8694	10	0.29301	T	0.29	-17.5054	12.4394	0.55617	1.0:0.0:0.0:0.0	.	306	Q9BWQ8	FAIM2_HUMAN	S	306;260;306;264	ENSP00000321951:F306S;ENSP00000450132:F260S;ENSP00000446771:F264S	ENSP00000321951:F306S	F	-	2	0	FAIM2	48550588	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.471000	0.80985	1.838000	0.53458	0.460000	0.39030	TTC		0.552	FAIM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000405984.1	NM_012306		30	49	0	0	0	0.012213	0	30	49				
IGLV2-28	28812	broad.mit.edu	37	22	23006960	23006960	+	RNA	SNP	C	C	A	rs199838243	byFrequency	TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr22:23006960C>A	ENST00000385099.1	+	0	63																											GGGCTCTGCTCCTCCTCACCC	0.627																																						ENST00000385099.1																			0																																																			0							g.chr22:23006960C>A																													22.37:g.23006960C>A														0	63	+									RNA	SNP	ENST00000385099.1	37																																																																																						0.627	D86994.2-201	NOVEL	basic	miRNA	miRNA				3	13	1	0	6.4e-05	0.004672	7.43434e-05	3	13				
ZNF845	91664	broad.mit.edu	37	19	53856702	53856702	+	Missense_Mutation	SNP	G	G	A	rs200114728	byFrequency	TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr19:53856702G>A	ENST00000595091.1	+	5	2993	c.2774G>A	c.(2773-2775)cGt>cAt	p.R925H	ZNF845_ENST00000458035.1_Missense_Mutation_p.R925H			Q96IR2	ZN845_HUMAN	zinc finger protein 845	925					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.R925H(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						AAAACCTTCCGTCACAATTCA	0.363													.|||	267	0.0533147	0.0484	0.0562	5008	,	,		21751	0.0466		0.0915	False		,,,				2504	0.0256					ENST00000458035.1																			3	Substitution - Missense(3)	p.R925H(3)	kidney(3)	endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(2773-2775)cGt>cAt		zinc finger protein 845							33.0	30.0	31.0					19																	53856702		692	1591	2283	SO:0001583	missense	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53856702G>A	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.2774G>A	19.37:g.53856702G>A	ENSP00000470005:p.Arg925His					ZNF845_ENST00000595091.1_Missense_Mutation_p.R925H	p.R925H	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	2891	+			925						Missense_Mutation	SNP	ENST00000595091.1	37	c.2774G>A	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	G	5.812	0.334080	0.11013	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	T	0.36157	1.27	2.0	-4.0	0.04057	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.42585	0.1209	L	0.58302	1.8	0.09310	N	1	D	0.55800	0.973	P	0.53760	0.734	T	0.43925	-0.9361	9	0.51188	T	0.08	.	10.7803	0.46374	0.0:0.6804:0.1821:0.1375	.	925	Q96IR2	ZN845_HUMAN	H	925;841	ENSP00000388311:R925H	ENSP00000412086:R841H	R	+	2	0	ZNF845	58548514	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-7.662000	0.00032	-1.603000	0.01597	-0.499000	0.04595	CGT		0.363	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		4	26	0	0	0	0.009096	0	4	26				
ACBD5	91452	broad.mit.edu	37	10	27520723	27520723	+	Missense_Mutation	SNP	A	A	G			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr10:27520723A>G	ENST00000375888.1	-	3	387	c.323T>C	c.(322-324)aTg>aCg	p.M108T	ACBD5_ENST00000375897.3_Start_Codon_SNP_p.M1T|ACBD5_ENST00000375905.4_Missense_Mutation_p.M75T|RNU7-12P_ENST00000516030.1_RNA|ACBD5_ENST00000396271.3_Missense_Mutation_p.M110T|ACBD5_ENST00000476758.1_5'UTR|ACBD5_ENST00000375901.1_Start_Codon_SNP_p.M1T			Q5T8D3	ACBD5_HUMAN	acyl-CoA binding domain containing 5	108	ACB. {ECO:0000255|PROSITE- ProRule:PRU00573}.				peroxisome degradation (GO:0030242)|transport (GO:0006810)	integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|peroxisome (GO:0005777)	fatty-acyl-CoA binding (GO:0000062)|lipid binding (GO:0008289)			breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						CTCTTTGGTCATATCACCCAG	0.328																																						ENST00000396271.3																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(7)|prostate(1)	13						c.(328-330)aTg>aCg		acyl-CoA binding domain containing 5							159.0	146.0	150.0					10																	27520723		2203	4299	6502	SO:0001583	missense	91452				transport	integral to membrane|peroxisomal membrane	fatty-acyl-CoA binding	g.chr10:27520723A>G	AF505653	CCDS7154.1, CCDS44368.1, CCDS73079.1	10p12.1	2010-04-30	2010-04-30		ENSG00000107897	ENSG00000107897			23338	protein-coding gene	gene with protein product			"""acyl-Coenzyme A binding domain containing 5"""			12056414	Standard	NR_024150		Approved	DKFZp434A2417, KIAA1996	uc010qdp.2	Q5T8D3	OTTHUMG00000017854	ENST00000375888.1:c.323T>C	10.37:g.27520723A>G	ENSP00000365049:p.Met108Thr					ACBD5_ENST00000375905.4_Missense_Mutation_p.M75T|ACBD5_ENST00000375901.1_Start_Codon_SNP_p.M1T|ACBD5_ENST00000375888.1_Missense_Mutation_p.M108T|ACBD5_ENST00000476758.1_5'UTR|ACBD5_ENST00000375897.3_Start_Codon_SNP_p.M1T	p.M110T	NM_145698.3	NP_663736.2	Q5T8D3	ACBD5_HUMAN			4	455	-			108			ACB.		B3KQ56|D3DRW0|Q5T8D4|Q5T8E1|Q5T8E2|Q86UV1|Q8N6E3|Q9UFB5	Missense_Mutation	SNP	ENST00000375888.1	37	c.329T>C		.	.	.	.	.	.	.	.	.	.	A	16.93	3.258127	0.59321	.	.	ENSG00000107897	ENST00000375889;ENST00000396271;ENST00000375905;ENST00000375901;ENST00000375897;ENST00000375888;ENST00000426079;ENST00000412279	T;T;T;T;T;T;T	0.58797	1.87;1.87;0.31;0.45;1.87;1.87;1.87	5.66	5.66	0.87406	.	0.077304	0.85682	D	0.000000	T	0.72906	0.3519	L	0.58354	1.805	0.36832	D	0.88694	D;D;D	0.89917	0.999;0.999;1.0	D;D;D	0.78314	0.991;0.99;0.989	T	0.79035	-0.1968	10	0.66056	D	0.02	-15.1415	15.898	0.79350	1.0:0.0:0.0:0.0	.	110;1;108	Q5T8D3-3;B7Z2A7;B7Z2R7	.;.;.	T	105;110;75;1;1;108;117;75	ENSP00000379568:M110T;ENSP00000365070:M75T;ENSP00000365066:M1T;ENSP00000365062:M1T;ENSP00000365049:M108T;ENSP00000401591:M117T;ENSP00000393398:M75T	ENSP00000365049:M108T	M	-	2	0	ACBD5	27560729	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	8.984000	0.93482	2.150000	0.67090	0.528000	0.53228	ATG		0.328	ACBD5-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000047314.1	NM_145698		5	69	0	0	0	0.000602	0	5	69				
NISCH	11188	broad.mit.edu	37	3	52526419	52526419	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr3:52526419G>A	ENST00000479054.1	+	22	4508	c.4436G>A	c.(4435-4437)aGa>aAa	p.R1479K	NISCH_ENST00000345716.4_Missense_Mutation_p.R1479K|STAB1_ENST00000321725.6_5'Flank			Q9Y2I1	NISCH_HUMAN	nischarin	1479					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|glucose metabolic process (GO:0006006)|negative regulation of cell migration (GO:0030336)|norepinephrine secretion (GO:0048243)|Rac protein signal transduction (GO:0016601)|regulation of blood pressure (GO:0008217)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled amine receptor activity (GO:0008227)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	Tizanidine(DB00697)	GCTGAGAGCAGAGAGAAGCTC	0.657																																						ENST00000345716.4																			0				NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33						c.(4435-4437)aGa>aAa		nischarin							63.0	71.0	69.0					3																	52526419		2203	4300	6503	SO:0001583	missense	11188				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity	g.chr3:52526419G>A	AF082516	CCDS33767.1, CCDS63651.1, CCDS63652.1	3p21.1	2008-07-18			ENSG00000010322	ENSG00000010322			18006	protein-coding gene	gene with protein product	"""imidazoline receptor candidate"", ""I-1 receptor candidate protein"", ""imidazoline receptor antisera selected"""	615507				11912194, 10882231	Standard	NM_007184		Approved	KIAA0975, I-1, IRAS	uc003ded.4	Q9Y2I1	OTTHUMG00000158571	ENST00000479054.1:c.4436G>A	3.37:g.52526419G>A	ENSP00000418232:p.Arg1479Lys					NISCH_ENST00000479054.1_Missense_Mutation_p.R1479K	p.R1479K	NM_007184.3	NP_009115.2	Q9Y2I1	NISCH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	21	4570	+			1479					C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Missense_Mutation	SNP	ENST00000479054.1	37	c.4436G>A	CCDS33767.1	.	.	.	.	.	.	.	.	.	.	G	31	5.078507	0.94000	.	.	ENSG00000010322	ENST00000479054;ENST00000345716;ENST00000433196;ENST00000414197	T;T	0.12147	2.71;2.71	5.37	5.37	0.77165	.	0.000000	0.64402	D	0.000001	T	0.23133	0.0559	L	0.32530	0.975	0.42502	D	0.992938	D	0.62365	0.991	P	0.54499	0.754	T	0.00804	-1.1559	10	0.87932	D	0	-8.9895	19.116	0.93340	0.0:0.0:1.0:0.0	.	1479	Q9Y2I1	NISCH_HUMAN	K	1479;1479;403;793	ENSP00000418232:R1479K;ENSP00000339958:R1479K	ENSP00000339958:R1479K	R	+	2	0	NISCH	52501459	1.000000	0.71417	1.000000	0.80357	0.962000	0.63368	8.883000	0.92426	2.535000	0.85469	0.561000	0.74099	AGA		0.657	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351357.1	NM_007184		32	92	0	0	0	0.008361	0	32	92				
GRINA	2907	broad.mit.edu	37	8	145066705	145066705	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr8:145066705C>T	ENST00000313269.5	+	6	1173	c.895C>T	c.(895-897)Ctc>Ttc	p.L299F	GRINA_ENST00000395068.4_Missense_Mutation_p.L299F	NM_000837.1	NP_000828.1	Q7Z429	LFG1_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding)	299						integral component of membrane (GO:0016021)				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	9	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			CTTCGCCATTCTCTGCATCTT	0.617																																						ENST00000313269.5																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|kidney(1)|large_intestine(1)|lung(2)|skin(1)|stomach(1)	9						c.(895-897)Ctc>Ttc		glutamate receptor, ionotropic, N-methyl D-aspartate-associated protein 1 (glutamate binding)							125.0	96.0	106.0					8																	145066705		2203	4300	6503	SO:0001583	missense	2907					integral to membrane		g.chr8:145066705C>T	NM_001009184	CCDS34961.1	8q24.3	2010-03-18	2008-04-01						4589	protein-coding gene	gene with protein product	"""transmembrane BAX inhibitor motif containing 3"""	138251		NMDARA1		1719427, 8406459	Standard	XM_005250899		Approved	HNRGW, TMBIM3, LFG1	uc003zao.1	Q7Z429		ENST00000313269.5:c.895C>T	8.37:g.145066705C>T	ENSP00000314380:p.Leu299Phe					GRINA_ENST00000395068.4_Missense_Mutation_p.L299F	p.L299F	NM_000837.1	NP_000828.1	Q7Z429	GRINA_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.31e-40)|Epithelial(56;1.16e-39)|all cancers(56;6.43e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		6	1173	+	all_cancers(97;8.2e-11)|all_epithelial(106;1.1e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		299					B3KXM7|O43836|Q8IVW7	Missense_Mutation	SNP	ENST00000313269.5	37	c.895C>T	CCDS34961.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	14.79|14.79	2.641580|2.641580	0.47153|0.47153	.|.	.|.	ENSG00000178719|ENSG00000178719	ENST00000313269;ENST00000395068;ENST00000537637|ENST00000533044;ENST00000527194	T;T|.	0.47177|.	0.85;0.85|.	5.26|5.26	5.26|5.26	0.73747|0.73747	.|.	0.069378|.	0.64402|.	D|.	0.000015|.	T|T	0.54415|0.54415	0.1857|0.1857	L|L	0.28556|0.28556	0.865|0.865	0.53688|0.53688	D|D	0.999976|0.999976	P|.	0.48407|.	0.91|.	P|.	0.49953|.	0.627|.	T|T	0.50242|0.50242	-0.8851|-0.8851	10|5	0.38643|.	T|.	0.18|.	-35.2538|-35.2538	14.429|14.429	0.67236|0.67236	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	299|.	Q7Z429|.	GRINA_HUMAN|.	F|F	299;299;280|121;111	ENSP00000314380:L299F;ENSP00000378507:L299F|.	ENSP00000314380:L299F|.	L|S	+|+	1|2	0|0	GRINA|GRINA	145138693|145138693	1.000000|1.000000	0.71417|0.71417	0.977000|0.977000	0.42913|0.42913	0.958000|0.958000	0.62258|0.62258	5.568000|5.568000	0.67385|0.67385	2.454000|2.454000	0.82982|0.82982	0.650000|0.650000	0.86243|0.86243	CTC|TCT		0.617	GRINA-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384048.1	NM_001009184		13	24	0	0	0	0.003163	0	13	24				
SEMA3A	10371	broad.mit.edu	37	7	83764225	83764225	+	Missense_Mutation	SNP	G	G	C			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr7:83764225G>C	ENST00000265362.4	-	2	469	c.155C>G	c.(154-156)gCc>gGc	p.A52G	SEMA3A_ENST00000436949.1_Missense_Mutation_p.A52G	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A	52	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				apoptotic process (GO:0006915)|axon extension involved in axon guidance (GO:0048846)|axon guidance (GO:0007411)|axonal fasciculation (GO:0007413)|axonogenesis involved in innervation (GO:0060385)|branchiomotor neuron axon guidance (GO:0021785)|dendrite morphogenesis (GO:0048813)|dichotomous subdivision of terminal units involved in salivary gland branching (GO:0060666)|facial nerve structural organization (GO:0021612)|gonadotrophin-releasing hormone neuronal migration to the hypothalamus (GO:0021828)|negative regulation of axon extension involved in axon guidance (GO:0048843)|negative regulation of epithelial cell migration (GO:0010633)|nerve development (GO:0021675)|neural crest cell migration involved in autonomic nervous system development (GO:1901166)|neural crest cell migration involved in sympathetic nervous system development (GO:1903045)|neuron migration (GO:0001764)|olfactory bulb development (GO:0021772)|positive regulation of male gonad development (GO:2000020)|positive regulation of neuron migration (GO:2001224)|regulation of axon extension involved in axon guidance (GO:0048841)|regulation of heart rate (GO:0002027)|semaphorin-plexin signaling pathway (GO:0071526)|semaphorin-plexin signaling pathway involved in axon guidance (GO:1902287)|semaphorin-plexin signaling pathway involved in neuron projection guidance (GO:1902285)|sensory system development (GO:0048880)|sympathetic ganglion development (GO:0061549)|sympathetic nervous system development (GO:0048485)|sympathetic neuron projection extension (GO:0097490)|sympathetic neuron projection guidance (GO:0097491)|trigeminal nerve structural organization (GO:0021637)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular region (GO:0005576)|membrane (GO:0016020)	chemorepellent activity (GO:0045499)|neuropilin binding (GO:0038191)|receptor activity (GO:0004872)			breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						GGAGCTGTTGGCCAAGCCATT	0.393																																						ENST00000265362.3																			0				breast(3)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|liver(1)|lung(22)|ovary(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(154-156)gCc>gGc		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3A							114.0	104.0	108.0					7																	83764225		2203	4300	6503	SO:0001583	missense	10371				axon guidance	extracellular region|membrane	receptor activity	g.chr7:83764225G>C	L26081	CCDS5599.1	7p12.1	2013-01-11			ENSG00000075213	ENSG00000075213		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10723	protein-coding gene	gene with protein product	"""sema III"""	603961		SEMAD		8269517, 7748561	Standard	NM_006080		Approved	SEMA1, SemD, coll-1, Hsema-I	uc003uhz.3	Q14563	OTTHUMG00000023443	ENST00000265362.4:c.155C>G	7.37:g.83764225G>C	ENSP00000265362:p.Ala52Gly					SEMA3A_ENST00000436949.1_Missense_Mutation_p.A52G	p.A52G	NM_006080.2	NP_006071.1	Q14563	SEM3A_HUMAN			2	469	-			52			Sema.			Missense_Mutation	SNP	ENST00000265362.4	37	c.155C>G	CCDS5599.1	.	.	.	.	.	.	.	.	.	.	g	12.64	1.997405	0.35226	.	.	ENSG00000075213	ENST00000265362;ENST00000436949;ENST00000420047	T;T;T	0.22134	1.97;1.97;1.97	4.93	4.93	0.64822	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (2);	0.279904	0.40064	N	0.001200	T	0.11196	0.0273	N	0.11064	0.09	0.52501	D	0.999951	B	0.02656	0.0	B	0.01281	0.0	T	0.17319	-1.0373	10	0.16420	T	0.52	.	12.9115	0.58182	0.0789:0.0:0.9211:0.0	.	52	Q14563	SEM3A_HUMAN	G	52	ENSP00000265362:A52G;ENSP00000415260:A52G;ENSP00000391900:A52G	ENSP00000265362:A52G	A	-	2	0	SEMA3A	83602161	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.533000	0.81994	2.434000	0.82447	0.467000	0.42956	GCC		0.393	SEMA3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253355.2	NM_006080		22	34	0	0	0	0.014323	0	22	34				
SACS	26278	broad.mit.edu	37	13	23909544	23909544	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr13:23909544G>A	ENST00000382292.3	-	9	8744	c.8471C>T	c.(8470-8472)tCa>tTa	p.S2824L	SACS_ENST00000382298.3_Missense_Mutation_p.S2824L|SACS_ENST00000402364.1_Missense_Mutation_p.S2074L			Q9NZJ4	SACS_HUMAN	sacsin molecular chaperone	2824					cell death (GO:0008219)|negative regulation of inclusion body assembly (GO:0090084)|protein folding (GO:0006457)	axon (GO:0030424)|cell body fiber (GO:0070852)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	chaperone binding (GO:0051087)|Hsp70 protein binding (GO:0030544)|proteasome binding (GO:0070628)			NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)		TGAAAAGCCTGATCTATTACA	0.393																																						ENST00000382298.3																			0				NS(1)|biliary_tract(1)|breast(3)|central_nervous_system(2)|endometrium(22)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(54)|lung(49)|ovary(7)|pancreas(1)|prostate(4)|skin(10)|stomach(2)|upper_aerodigestive_tract(6)|urinary_tract(11)	189						c.(8470-8472)tCa>tTa		spastic ataxia of Charlevoix-Saguenay (sacsin)							93.0	88.0	90.0					13																	23909544		2203	4299	6502	SO:0001583	missense	26278				cell death|negative regulation of inclusion body assembly|protein folding	axon|cell body fiber|dendrite|mitochondrion|nucleus	ATP binding|chaperone binding|Hsp70 protein binding|proteasome binding	g.chr13:23909544G>A	AF193556	CCDS9300.2	13q11	2014-06-13	2014-01-30		ENSG00000151835	ENSG00000151835		"""Heat shock proteins / DNAJ (HSP40)"""	10519	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 138"""	604490	"""spastic ataxia of Charlevoix-Saguenay (sacsin)"""			10610707, 15057823, 21726565	Standard	NM_001278055		Approved	ARSACS, KIAA0730, DKFZp686B15167, DNAJC29, SPAX6, PPP1R138	uc001uon.3	Q9NZJ4	OTTHUMG00000016562	ENST00000382292.3:c.8471C>T	13.37:g.23909544G>A	ENSP00000371729:p.Ser2824Leu					SACS_ENST00000402364.1_Missense_Mutation_p.S2074L|SACS_ENST00000382292.3_Missense_Mutation_p.S2824L	p.S2824L	NM_014363.4	NP_055178.3	Q9NZJ4	SACS_HUMAN		all cancers(112;0.00197)|Epithelial(112;0.00854)|OV - Ovarian serous cystadenocarcinoma(117;0.0298)|Lung(94;0.189)	10	9059	-		all_cancers(29;1.51e-22)|all_epithelial(30;7.82e-19)|all_lung(29;4.71e-18)|Lung SC(185;0.0225)|Breast(139;0.128)	2824					O94835|Q5T9J5|Q5T9J7|Q5T9J8|Q68DF5|Q6MZR4|Q8NBF9	Missense_Mutation	SNP	ENST00000382292.3	37	c.8471C>T	CCDS9300.2	.	.	.	.	.	.	.	.	.	.	G	15.84	2.950861	0.53186	.	.	ENSG00000151835	ENST00000382292;ENST00000402364;ENST00000382298	D;D;D	0.86562	-1.99;-2.14;-1.99	5.65	5.65	0.86999	.	0.066663	0.64402	D	0.000007	T	0.78451	0.4285	N	0.19112	0.55	0.49389	D	0.999787	B	0.30824	0.296	B	0.26094	0.066	T	0.74957	-0.3487	10	0.10902	T	0.67	.	19.7855	0.96434	0.0:0.0:1.0:0.0	.	2824	Q9NZJ4	SACS_HUMAN	L	2824;2074;2824	ENSP00000371729:S2824L;ENSP00000385844:S2074L;ENSP00000371735:S2824L	ENSP00000371729:S2824L	S	-	2	0	SACS	22807544	1.000000	0.71417	0.622000	0.29159	0.972000	0.66771	9.476000	0.97823	2.684000	0.91462	0.555000	0.69702	TCA		0.393	SACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044148.3	NM_014363		12	53	0	0	0	0.010729	0	12	53				
JUN	3725	broad.mit.edu	37	1	59248693	59248693	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr1:59248693G>A	ENST00000371222.2	-	1	1092	c.50C>T	c.(49-51)tCg>tTg	p.S17L	RP4-794H19.2_ENST00000419531.2_lincRNA	NM_002228.3	NP_002219.1	P05412	JUN_HUMAN	jun proto-oncogene	17					aging (GO:0007568)|angiogenesis (GO:0001525)|axon regeneration (GO:0031103)|cellular response to calcium ion (GO:0071277)|cellular response to potassium ion starvation (GO:0051365)|circadian rhythm (GO:0007623)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|leading edge cell differentiation (GO:0035026)|learning (GO:0007612)|liver development (GO:0001889)|membrane depolarization (GO:0051899)|microglial cell activation (GO:0001774)|monocyte differentiation (GO:0030224)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation by host of viral transcription (GO:0043922)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA binding (GO:0043392)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of protein autophosphorylation (GO:0031953)|negative regulation of transcription from RNA polymerase II promoter in response to endoplasmic reticulum stress (GO:1990441)|negative regulation of transcription, DNA-templated (GO:0045892)|outflow tract morphogenesis (GO:0003151)|positive regulation by host of viral transcription (GO:0043923)|positive regulation of DNA replication (GO:0045740)|positive regulation of endothelial cell proliferation (GO:0001938)|positive regulation of fibroblast proliferation (GO:0048146)|positive regulation of monocyte differentiation (GO:0045657)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of Rho GTPase activity (GO:0032321)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cell cycle (GO:0051726)|regulation of sequence-specific DNA binding transcription factor activity (GO:0051090)|release of cytochrome c from mitochondria (GO:0001836)|response to cAMP (GO:0051591)|response to cytokine (GO:0034097)|response to drug (GO:0042493)|response to hydrogen peroxide (GO:0042542)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to radiation (GO:0009314)|SMAD protein import into nucleus (GO:0007184)|SMAD protein signal transduction (GO:0060395)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|transforming growth factor beta receptor signaling pathway (GO:0007179)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytosol (GO:0005829)|nuclear chromosome (GO:0000228)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	cAMP response element binding (GO:0035497)|DNA binding (GO:0003677)|double-stranded DNA binding (GO:0003690)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|R-SMAD binding (GO:0070412)|Rho GTPase activator activity (GO:0005100)|RNA polymerase II activating transcription factor binding (GO:0001102)|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 distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|kidney(2)|lung(5)|skin(1)	10	all_cancers(7;8.55e-07)				Arsenic trioxide(DB01169)|Irbesartan(DB01029)|Pseudoephedrine(DB00852)|Vinblastine(DB00570)	CGGGAGGAACGAGGCGTTGAG	0.552			A		sarcoma																																	ENST00000371222.2				Dom	yes		1	1p32-p31	3725	A	jun oncogene			M			sarcoma		0				breast(2)|kidney(2)|lung(5)|skin(1)	10						c.(49-51)tCg>tTg		jun proto-oncogene	Arsenic trioxide(DB01169)|Irbesartan(DB01029)|Vinblastine(DB00570)						100.0	109.0	106.0					1																	59248693		2203	4300	6503	SO:0001583	missense	3725				innate immune response|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation by host of viral transcription|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|positive regulation by host of viral transcription|positive regulation of transcription from RNA polymerase II promoter|regulation of sequence-specific DNA binding transcription factor activity|SMAD protein import into nucleus|SMAD protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway|transforming growth factor beta receptor signaling pathway		R-SMAD binding|Rho GTPase activator activity|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription coactivator activity|transcription factor binding|transcription regulatory region DNA binding	g.chr1:59248693G>A	AY217548	CCDS610.1	1p32-p31	2013-01-10	2010-08-27		ENSG00000177606	ENSG00000177606		"""basic leucine zipper proteins"""	6204	protein-coding gene	gene with protein product		165160	"""v-jun avian sarcoma virus 17 oncogene homolog"", ""v-jun sarcoma virus 17 oncogene homolog (avian)"", ""jun oncogene"""			3194415	Standard	NM_002228		Approved	c-Jun, AP-1	uc001cze.3	P05412	OTTHUMG00000008376	ENST00000371222.2:c.50C>T	1.37:g.59248693G>A	ENSP00000360266:p.Ser17Leu						p.S17L	NM_002228.3	NP_002219.1	P05412	JUN_HUMAN			1	1092	-	all_cancers(7;8.55e-07)		17					Q6FHM7|Q96G93	Missense_Mutation	SNP	ENST00000371222.2	37	c.50C>T	CCDS610.1	.	.	.	.	.	.	.	.	.	.	G	13.01	2.107947	0.37242	.	.	ENSG00000177606	ENST00000371222	T	0.25749	1.78	3.96	3.96	0.45880	Jun-like transcription factor (1);	0.384233	0.21115	U	0.079915	T	0.21145	0.0509	L	0.43152	1.355	0.27523	N	0.951342	P	0.35944	0.529	B	0.29440	0.102	T	0.20974	-1.0259	10	0.66056	D	0.02	-3.7817	13.5506	0.61730	0.0:0.1693:0.8307:0.0	.	17	P05412	JUN_HUMAN	L	17	ENSP00000360266:S17L	ENSP00000360266:S17L	S	-	2	0	JUN	59021281	1.000000	0.71417	1.000000	0.80357	0.706000	0.40770	3.874000	0.56101	2.185000	0.69588	0.462000	0.41574	TCG		0.552	JUN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000023042.1	NM_002228		15	128	0	0	0	0.002450	0	15	128				
CACNA1S	779	broad.mit.edu	37	1	201009764	201009764	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr1:201009764G>A	ENST00000362061.3	-	42	5438	c.5212C>T	c.(5212-5214)Cct>Tct	p.P1738S	CACNA1S_ENST00000367338.3_Missense_Mutation_p.P1719S|RP11-168O16.2_ENST00000415359.1_RNA	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN	calcium channel, voltage-dependent, L type, alpha 1S subunit	1738					axon guidance (GO:0007411)|calcium ion import (GO:0070509)|calcium ion transport (GO:0006816)|endoplasmic reticulum organization (GO:0007029)|extraocular skeletal muscle development (GO:0002074)|membrane depolarization during action potential (GO:0086010)|muscle contraction (GO:0006936)|myoblast fusion (GO:0007520)|neuromuscular junction development (GO:0007528)|skeletal muscle adaptation (GO:0043501)|skeletal muscle fiber development (GO:0048741)|skeletal system development (GO:0001501)|striated muscle contraction (GO:0006941)	cytoplasm (GO:0005737)|I band (GO:0031674)|plasma membrane (GO:0005886)|sarcoplasmic reticulum (GO:0016529)|T-tubule (GO:0030315)|voltage-gated calcium channel complex (GO:0005891)	high voltage-gated calcium channel activity (GO:0008331)|metal ion binding (GO:0046872)|voltage-gated calcium channel activity (GO:0005245)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102					Amlodipine(DB00381)|Cinnarizine(DB00568)|Clevidipine(DB04920)|Dronedarone(DB04855)|Felodipine(DB01023)|Isradipine(DB00270)|Magnesium Sulfate(DB00653)|Nifedipine(DB01115)|Nilvadipine(DB06712)|Nimodipine(DB00393)|Nisoldipine(DB00401)|Nitrendipine(DB01054)|Spironolactone(DB00421)|Verapamil(DB00661)	CAGGGGGCAGGAGGTGCCTGG	0.607																																						ENST00000362061.3																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(13)|large_intestine(19)|lung(37)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(2)|urinary_tract(2)	102						c.(5212-5214)Cct>Tct		calcium channel, voltage-dependent, L type, alpha 1S subunit	Magnesium Sulfate(DB00653)|Verapamil(DB00661)						51.0	47.0	48.0					1																	201009764		2203	4300	6503	SO:0001583	missense	779				axon guidance	I band|T-tubule|voltage-gated calcium channel complex	high voltage-gated calcium channel activity	g.chr1:201009764G>A	L33798	CCDS1407.1	1q32	2012-03-07			ENSG00000081248	ENSG00000081248		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"""	1397	protein-coding gene	gene with protein product		114208		HOKPP, MHS5, CACNL1A3		7916735, 16382099	Standard	NM_000069		Approved	Cav1.1, hypoPP	uc001gvv.3	Q13698	OTTHUMG00000035784	ENST00000362061.3:c.5212C>T	1.37:g.201009764G>A	ENSP00000355192:p.Pro1738Ser					CACNA1S_ENST00000367338.3_Missense_Mutation_p.P1719S|RP11-168O16.2_ENST00000415359.1_RNA	p.P1738S	NM_000069.2	NP_000060.2	Q13698	CAC1S_HUMAN			42	5438	-			1738					A4IF51|B1ALM2|Q12896|Q13934	Missense_Mutation	SNP	ENST00000362061.3	37	c.5212C>T	CCDS1407.1	.	.	.	.	.	.	.	.	.	.	.	9.671	1.146603	0.21288	.	.	ENSG00000081248	ENST00000362061;ENST00000367338	D;D	0.95724	-3.79;-3.73	4.47	-2.5	0.06384	.	7739.210000	0.00166	N	0.000000	D	0.88555	0.6468	N	0.22421	0.69	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.78532	-0.2168	10	0.18276	T	0.48	.	1.3938	0.02256	0.1291:0.3207:0.2247:0.3255	.	1738	Q13698	CAC1S_HUMAN	S	1738;1719	ENSP00000355192:P1738S;ENSP00000356307:P1719S	ENSP00000355192:P1738S	P	-	1	0	CACNA1S	199276387	0.078000	0.21339	0.002000	0.10522	0.119000	0.20118	0.608000	0.24223	-0.011000	0.14247	0.585000	0.79938	CCT		0.607	CACNA1S-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087049.1	NM_000069		4	57	0	0	0	0.000602	0	4	57				
PSPC1	55269	broad.mit.edu	37	13	20325529	20325529	+	Missense_Mutation	SNP	A	A	T			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr13:20325529A>T	ENST00000338910.4	-	4	1008	c.849T>A	c.(847-849)gaT>gaA	p.D283E		NM_001042414.2	NP_001035879.1	Q8WXF1	PSPC1_HUMAN	paraspeckle component 1	283	Sufficient for paraspeckles localization.|Sufficient for perinucleolar caps localization and interaction with NONO.				negative regulation of transcription, DNA-templated (GO:0045892)|regulation of circadian rhythm (GO:0042752)|rhythmic process (GO:0048511)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleus (GO:0005634)|paraspeckles (GO:0042382)	core promoter binding (GO:0001047)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)	p.D283E(1)		breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)		TTTCCATTTCATCAAGAGCCT	0.423																																						ENST00000338910.4																			1	Substitution - Missense(1)	p.D283E(1)	skin(1)	breast(1)|endometrium(1)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	23						c.(847-849)gaT>gaA		paraspeckle component 1							174.0	157.0	162.0					13																	20325529		1910	4131	6041	SO:0001583	missense	55269				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nuclear matrix|nucleolus	nucleotide binding|protein binding|RNA binding	g.chr13:20325529A>T	AK001817	CCDS41870.1	13q11	2013-02-12			ENSG00000121390	ENSG00000121390		"""RNA binding motif (RRM) containing"""	20320	protein-coding gene	gene with protein product		612408				11790299	Standard	NM_001042414		Approved	PSP1, FLJ10955	uc021rgx.1	Q8WXF1	OTTHUMG00000016502	ENST00000338910.4:c.849T>A	13.37:g.20325529A>T	ENSP00000343966:p.Asp283Glu						p.D283E	NM_001042414.2	NP_001035879.1	Q8WXF1	PSPC1_HUMAN		all cancers(112;4.63e-06)|Epithelial(112;2.29e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00256)|Lung(94;0.00975)|LUSC - Lung squamous cell carcinoma(192;0.0483)	4	1008	-		all_cancers(29;1.25e-22)|all_lung(29;1.97e-20)|all_epithelial(30;2.29e-20)|Lung NSC(5;3.36e-17)|Lung SC(185;0.0262)|Ovarian(182;0.162)	283			Sufficient for paraspeckles localization.|Sufficient for perinucleolar caps localization and interaction with NONO.		Q5JTQ3|Q8NCZ9|Q8WXE8|Q9NV36	Missense_Mutation	SNP	ENST00000338910.4	37	c.849T>A	CCDS41870.1	.	.	.	.	.	.	.	.	.	.	A	13.41	2.230303	0.39399	.	.	ENSG00000121390	ENST00000338910;ENST00000422828	T	0.14516	2.5	4.83	-2.3	0.06785	.	0.114166	0.56097	D	0.000023	T	0.10380	0.0254	L	0.58810	1.83	0.44492	D	0.997437	B	0.12630	0.006	B	0.17098	0.017	T	0.41734	-0.9492	10	0.05959	T	0.93	-25.7308	10.7896	0.46426	0.5234:0.0:0.4766:0.0	.	283	Q8WXF1	PSPC1_HUMAN	E	283;223	ENSP00000343966:D283E	ENSP00000343966:D283E	D	-	3	2	PSPC1	19223529	0.965000	0.33210	0.996000	0.52242	0.994000	0.84299	0.282000	0.18829	-0.287000	0.09064	0.454000	0.30748	GAT		0.423	PSPC1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044037.2			6	159	0	0	0	0.001168	0	6	159				
CAND1	55832	broad.mit.edu	37	12	67699222	67699222	+	Missense_Mutation	SNP	T	T	A			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr12:67699222T>A	ENST00000545606.1	+	10	2211	c.1774T>A	c.(1774-1776)Tgt>Agt	p.C592S		NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	cullin-associated and neddylation-dissociated 1	592					cell differentiation (GO:0030154)|negative regulation of catalytic activity (GO:0043086)|positive regulation of RNA polymerase II transcriptional preinitiation complex assembly (GO:0045899)|protein ubiquitination (GO:0016567)|SCF complex assembly (GO:0010265)	cullin-RING ubiquitin ligase complex (GO:0031461)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35			GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)		GGCTATTTCCTGTATGGGACA	0.368																																						ENST00000545606.1																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(5)|large_intestine(10)|lung(12)|prostate(1)|skin(2)|stomach(1)	35						c.(1774-1776)Tgt>Agt		cullin-associated and neddylation-dissociated 1							119.0	120.0	120.0					12																	67699222		2203	4300	6503	SO:0001583	missense	55832				cell differentiation|negative regulation of catalytic activity|protein ubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus|ubiquitin ligase complex	protein binding	g.chr12:67699222T>A		CCDS8977.1	12q14	2008-02-05			ENSG00000111530	ENSG00000111530			30688	protein-coding gene	gene with protein product	"""TBP interacting protein"""	607727				10048485, 8954946	Standard	NM_018448		Approved	TIP120A, DKFZp434M1414, KIAA0829, TIP120	uc001stn.2	Q86VP6	OTTHUMG00000169060	ENST00000545606.1:c.1774T>A	12.37:g.67699222T>A	ENSP00000442318:p.Cys592Ser						p.C592S	NM_018448.3	NP_060918.2	Q86VP6	CAND1_HUMAN	GBM - Glioblastoma multiforme(1;1.13e-10)|Lung(24;0.000342)|LUSC - Lung squamous cell carcinoma(43;0.196)	GBM - Glioblastoma multiforme(28;0.0279)	10	2211	+			592					B2RAU3|O94918|Q6PIY4|Q8NDJ4|Q96JZ9|Q96T19|Q9BTC4|Q9H0G2|Q9P0H7|Q9UF85	Missense_Mutation	SNP	ENST00000545606.1	37	c.1774T>A	CCDS8977.1	.	.	.	.	.	.	.	.	.	.	T	15.64	2.892261	0.52014	.	.	ENSG00000111530	ENST00000545606;ENST00000299218	T	0.59906	0.23	5.73	5.73	0.89815	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.75968	0.3922	M	0.78285	2.405	0.80722	D	1	D	0.89917	1.0	D	0.71656	0.974	T	0.77675	-0.2499	9	.	.	.	-8.9156	16.013	0.80417	0.0:0.0:0.0:1.0	.	592	Q86VP6	CAND1_HUMAN	S	592	ENSP00000442318:C592S	.	C	+	1	0	CAND1	65985489	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.981000	0.88123	2.183000	0.69458	0.528000	0.53228	TGT		0.368	CAND1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402105.1	NM_018448		7	116	0	0	0	0.001984	0	7	116				
CASC4	113201	broad.mit.edu	37	15	44630079	44630079	+	Nonsense_Mutation	SNP	C	C	G			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr15:44630079C>G	ENST00000345795.2	+	5	965	c.695C>G	c.(694-696)tCa>tGa	p.S232*	CASC4_ENST00000360824.3_3'UTR|CASC4_ENST00000299957.6_Nonsense_Mutation_p.S232*	NM_177974.2	NP_816929.1	Q6P4E1	CASC4_HUMAN	cancer susceptibility candidate 4	232						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2)	17		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)		GAAGAACCCTCAAGCAATCAT	0.299																																						ENST00000299957.6																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(3)|lung(7)|ovary(1)|urinary_tract(2)	17						c.(694-696)tCa>tGa		cancer susceptibility candidate 4							85.0	84.0	84.0					15																	44630079		2198	4295	6493	SO:0001587	stop_gained	113201					integral to membrane		g.chr15:44630079C>G	AF103804	CCDS10108.1, CCDS10109.1	15q15.1	2010-11-24			ENSG00000166734	ENSG00000166734			24892	protein-coding gene	gene with protein product						10497265	Standard	NM_138423		Approved	H63, DKFZp459F1927	uc001ztp.3	Q6P4E1	OTTHUMG00000131133	ENST00000345795.2:c.695C>G	15.37:g.44630079C>G	ENSP00000335063:p.Ser232*					CASC4_ENST00000345795.2_Nonsense_Mutation_p.S232*|CASC4_ENST00000360824.3_3'UTR	p.S232*	NM_138423.3	NP_612432.2	Q6P4E1	CASC4_HUMAN		all cancers(107;2.91e-20)|GBM - Glioblastoma multiforme(94;1.57e-06)|COAD - Colon adenocarcinoma(120;0.217)|Colorectal(105;0.237)	5	994	+		all_cancers(109;1.69e-13)|all_epithelial(112;3.94e-11)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.027)	232					B4DPZ6|G5E934|Q6UY45|Q96EM1	Nonsense_Mutation	SNP	ENST00000345795.2	37	c.695C>G	CCDS10109.1	.	.	.	.	.	.	.	.	.	.	C	35	5.435891	0.96168	.	.	ENSG00000166734	ENST00000299957;ENST00000345795;ENST00000416522	.	.	.	4.89	4.89	0.63831	.	0.562584	0.17612	N	0.168033	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.52906	T	0.07	.	15.0683	0.72014	0.0:1.0:0.0:0.0	.	.	.	.	X	232;232;211	.	ENSP00000299957:S232X	S	+	2	0	CASC4	42417371	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.129000	0.57957	2.536000	0.85505	0.561000	0.74099	TCA		0.299	CASC4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253816.1	NM_138423		3	58	0	0	0	0.004672	0	3	58				
PRC1	9055	broad.mit.edu	37	15	91523559	91523559	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr15:91523559C>T	ENST00000361188.5	-	7	2094	c.883G>A	c.(883-885)Gag>Aag	p.E295K	PRC1_ENST00000394249.3_Missense_Mutation_p.E295K|PRC1_ENST00000442656.2_Missense_Mutation_p.E254K|PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000361919.3_Missense_Mutation_p.E295K					protein regulator of cytokinesis 1											endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25	Lung NSC(78;0.0987)|all_lung(78;0.175)					CGAATTGCCTCAATCACTTTC	0.443																																						ENST00000361188.5																			0				endometrium(1)|kidney(2)|large_intestine(7)|lung(9)|ovary(3)|prostate(1)|skin(2)	25						c.(883-885)Gag>Aag		protein regulator of cytokinesis 1							200.0	164.0	176.0					15																	91523559		2198	4298	6496	SO:0001583	missense	9055				cytokinesis|mitotic spindle elongation	cytoplasm|nucleus|spindle microtubule|spindle pole	protein binding	g.chr15:91523559C>T	AF044588	CCDS32334.1, CCDS45352.1, CCDS45353.1, CCDS45353.2	15q26.1	2013-05-29		2006-07-07	ENSG00000198901	ENSG00000198901			9341	protein-coding gene	gene with protein product	"""anaphase spindle elongation 1 homolog (S. cerevisiae)"""	603484				9885575	Standard	NM_003981		Approved	ASE1	uc002bqm.4	O43663	OTTHUMG00000171685	ENST00000361188.5:c.883G>A	15.37:g.91523559C>T	ENSP00000354679:p.Glu295Lys					PRC1-AS1_ENST00000554388.1_RNA|PRC1_ENST00000394249.3_Missense_Mutation_p.E295K|PRC1_ENST00000361919.3_Missense_Mutation_p.E295K|PRC1_ENST00000442656.2_Missense_Mutation_p.E254K	p.E295K			O43663	PRC1_HUMAN			7	2094	-	Lung NSC(78;0.0987)|all_lung(78;0.175)		295			Dimerization.			Missense_Mutation	SNP	ENST00000361188.5	37	c.883G>A	CCDS45352.1	.	.	.	.	.	.	.	.	.	.	C	24.8	4.575662	0.86645	.	.	ENSG00000198901	ENST00000394249;ENST00000361919;ENST00000361188;ENST00000442656;ENST00000556982	T;T;T;T	0.36878	1.23;1.23;1.23;1.23	6.17	6.17	0.99709	.	0.151419	0.56097	D	0.000021	T	0.53546	0.1803	M	0.81802	2.56	0.50313	D	0.999866	P;P;P;P	0.47106	0.866;0.866;0.866;0.89	P;P;P;P	0.54664	0.644;0.644;0.644;0.758	T	0.48980	-0.8986	10	0.07990	T	0.79	.	16.9727	0.86304	0.0:0.8726:0.1274:0.0	.	254;295;295;295	O43663-3;F8W9B5;O43663-2;O43663	.;.;.;PRC1_HUMAN	K	295;295;295;254;69	ENSP00000377793:E295K;ENSP00000354618:E295K;ENSP00000354679:E295K;ENSP00000409549:E254K	ENSP00000354679:E295K	E	-	1	0	PRC1	89324563	0.998000	0.40836	1.000000	0.80357	0.981000	0.71138	3.861000	0.56002	2.941000	0.99782	0.655000	0.94253	GAG		0.443	PRC1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414760.1	NM_003981		18	90	0	0	0	0.004990	0	18	90				
IGLV2-28	28812	broad.mit.edu	37	22	23006961	23006961	+	RNA	SNP	C	C	T	rs200228350	byFrequency	TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr22:23006961C>T	ENST00000385099.1	+	0	64																											GGCTCTGCTCCTCCTCACCCT	0.627																																						ENST00000385099.1																			0																																																			0							g.chr22:23006961C>T																													22.37:g.23006961C>T														0	64	+									RNA	SNP	ENST00000385099.1	37																																																																																						0.627	D86994.2-201	NOVEL	basic	miRNA	miRNA				3	15	0	0	0	0.004672	0	3	15				
USP45	85015	broad.mit.edu	37	6	99924037	99924037	+	Silent	SNP	C	C	G			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr6:99924037C>G	ENST00000327681.6	-	9	1447	c.915G>C	c.(913-915)gtG>gtC	p.V305V	USP45_ENST00000369233.2_Silent_p.V305V|USP45_ENST00000392738.2_Silent_p.V43V|USP45_ENST00000500704.2_Silent_p.V305V	NM_001080481.1	NP_001073950.1	Q70EL2	UBP45_HUMAN	ubiquitin specific peptidase 45	305	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)		BRCA - Breast invasive adenocarcinoma(108;0.0718)		CTTCTGTCCTCACTGCATCCA	0.408																																						ENST00000327681.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|large_intestine(6)|lung(2)|ovary(1)|skin(1)|stomach(2)|upper_aerodigestive_tract(1)	22						c.(913-915)gtG>gtC		ubiquitin specific peptidase 45							80.0	79.0	80.0					6																	99924037		2203	4300	6503	SO:0001819	synonymous_variant	85015				ubiquitin-dependent protein catabolic process		cysteine-type peptidase activity|ubiquitin thiolesterase activity|zinc ion binding	g.chr6:99924037C>G	AL832030	CCDS34501.1	6q16.2	2008-02-05	2005-08-08		ENSG00000123552	ENSG00000123552		"""Ubiquitin-specific peptidases"""	20080	protein-coding gene	gene with protein product			"""ubiquitin specific protease 45"""			12838346	Standard	NM_001080481		Approved	MGC14793	uc003ppx.2	Q70EL2	OTTHUMG00000015267	ENST00000327681.6:c.915G>C	6.37:g.99924037C>G						USP45_ENST00000392738.2_Silent_p.V43V|USP45_ENST00000500704.2_Silent_p.V305V|USP45_ENST00000369233.2_Silent_p.V305V	p.V305V	NM_001080481.1	NP_001073950.1	Q70EL2	UBP45_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0718)	9	1447	-		all_cancers(76;0.000208)|Acute lymphoblastic leukemia(125;8.41e-11)|all_hematologic(75;2.56e-07)|all_epithelial(107;0.122)|Colorectal(196;0.133)	305					B2RXG0|Q5T062|Q86T44|Q86TC0|Q9BRU1	Silent	SNP	ENST00000327681.6	37	c.915G>C	CCDS34501.1	.	.	.	.	.	.	.	.	.	.	C	8.205	0.799108	0.16397	.	.	ENSG00000123552	ENST00000496090	.	.	.	5.67	5.67	0.87782	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.7281	0.85428	0.0:0.871:0.129:0.0	.	.	.	.	S	16	.	.	X	-	2	2	USP45	100030758	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	0.846000	0.27682	2.663000	0.90544	0.585000	0.79938	TGA		0.408	USP45-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041609.2	NM_032929		8	45	0	0	0	0.003080	0	8	45				
KAT2A	2648	broad.mit.edu	37	17	40271403	40271403	+	Silent	SNP	G	G	A			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr17:40271403G>A	ENST00000225916.5	-	6	986	c.933C>T	c.(931-933)taC>taT	p.Y311Y		NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN	K(lysine) acetyltransferase 2A	311					cell proliferation (GO:0008283)|chromatin organization (GO:0006325)|chromatin remodeling (GO:0006338)|histone deubiquitination (GO:0016578)|histone H3 acetylation (GO:0043966)|histone H3-K14 acetylation (GO:0044154)|in utero embryonic development (GO:0001701)|metencephalon development (GO:0022037)|midbrain development (GO:0030901)|multicellular organism growth (GO:0035264)|neural tube closure (GO:0001843)|positive regulation of gluconeogenesis (GO:0045722)|regulation of protein stability (GO:0031647)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|somitogenesis (GO:0001756)|telencephalon development (GO:0021537)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	Ada2/Gcn5/Ada3 transcription activator complex (GO:0005671)|extracellular space (GO:0005615)|mitotic spindle (GO:0072686)|nucleoplasm (GO:0005654)|STAGA complex (GO:0030914)|transcription factor TFTC complex (GO:0033276)	chromatin binding (GO:0003682)|H3 histone acetyltransferase activity (GO:0010484)|histone acetyltransferase activity (GO:0004402)|histone acetyltransferase activity (H4-K12 specific) (GO:0043997)|histone deacetylase binding (GO:0042826)|transcription coactivator activity (GO:0003713)			central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						GAGTGGTTTCGTAGCGGGGGA	0.582																																						ENST00000225916.5																			0				central_nervous_system(1)|endometrium(3)|large_intestine(1)|lung(4)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	18						c.(931-933)taC>taT		K(lysine) acetyltransferase 2A							102.0	98.0	99.0					17																	40271403		2203	4300	6503	SO:0001819	synonymous_variant	2648				chromatin remodeling|histone deubiquitination|interspecies interaction between organisms|regulation of transcription from RNA polymerase II promoter|transcription from RNA polymerase II promoter	Ada2/Gcn5/Ada3 transcription activator complex|STAGA complex|transcription factor TFTC complex	H3 histone acetyltransferase activity|histone deacetylase binding|protein binding|transcription coactivator activity	g.chr17:40271403G>A	AF029777	CCDS11417.1	17q12-q21	2011-07-01	2008-07-04	2008-07-04	ENSG00000108773	ENSG00000108773		"""Chromatin-modifying enzymes / K-acetyltransferases"""	4201	protein-coding gene	gene with protein product		602301	"""GCN5 general control of amino-acid synthesis 5-like 2 (yeast)"""	GCN5L2		8552087	Standard	NM_021078		Approved	GCN5, PCAF-b	uc002hyx.2	Q92830	OTTHUMG00000133504	ENST00000225916.5:c.933C>T	17.37:g.40271403G>A							p.Y311Y	NM_021078.2	NP_066564.2	Q92830	KAT2A_HUMAN			6	986	-			311					Q8N1A2|Q9UCW1	Silent	SNP	ENST00000225916.5	37	c.933C>T	CCDS11417.1																																																																																				0.582	KAT2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257458.1	NM_021078		44	69	0	0	0	0.014410	0	44	69				
ANO1	55107	broad.mit.edu	37	11	70007786	70007786	+	Silent	SNP	G	G	A			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr11:70007786G>A	ENST00000355303.5	+	18	2144	c.1839G>A	c.(1837-1839)ctG>ctA	p.L613L	ANO1_ENST00000530676.1_Silent_p.L467L|ANO1_ENST00000398543.2_Silent_p.L467L|ANO1_ENST00000316296.5_Silent_p.L555L|ANO1_ENST00000531349.1_Silent_p.L322L|ANO1_ENST00000538023.1_Silent_p.L613L	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN	anoctamin 1, calcium activated chloride channel	613					cation transmembrane transport (GO:0098655)|cation transport (GO:0006812)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|regulation of membrane potential (GO:0042391)|trachea development (GO:0060438)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|chloride channel complex (GO:0034707)|cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	calcium activated cation channel activity (GO:0005227)|intracellular calcium activated chloride channel activity (GO:0005229)			central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29					Crofelemer(DB04941)	CTTTCCTGCTGAAGTTTGTGA	0.527																																						ENST00000355303.5																			0				central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(3)|lung(12)|ovary(3)|pancreas(1)|upper_aerodigestive_tract(1)	29						c.(1837-1839)ctG>ctA		anoctamin 1, calcium activated chloride channel							198.0	204.0	202.0					11																	70007786		1945	4136	6081	SO:0001819	synonymous_variant	55107				multicellular organismal development	chloride channel complex|cytoplasm|plasma membrane	intracellular calcium activated chloride channel activity	g.chr11:70007786G>A	BC033036	CCDS44663.1	11q13.2	2014-04-09	2008-08-28	2008-08-28	ENSG00000131620	ENSG00000131620		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	21625	protein-coding gene	gene with protein product		610108	"""oral cancer overexpressed 2"", ""transmembrane protein 16A"""	ORAOV2, TMEM16A		15067359, 18724360, 24692353	Standard	NM_018043		Approved	TAOS2, FLJ10261, DOG1	uc001opj.3	Q5XXA6	OTTHUMG00000167204	ENST00000355303.5:c.1839G>A	11.37:g.70007786G>A						ANO1_ENST00000531349.1_Silent_p.L322L|ANO1_ENST00000530676.1_Silent_p.L467L|ANO1_ENST00000538023.1_Silent_p.L613L|ANO1_ENST00000398543.2_Silent_p.L467L|ANO1_ENST00000316296.5_Silent_p.L555L	p.L613L	NM_018043.5	NP_060513.5	Q5XXA6	ANO1_HUMAN			18	2144	+			613					A8KAM3|Q8IYY8|Q8N7V3	Silent	SNP	ENST00000355303.5	37	c.1839G>A	CCDS44663.1																																																																																				0.527	ANO1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000393685.1	NM_018043		20	103	0	0	0	0.012319	0	20	103				
FANCC	2176	broad.mit.edu	37	9	97933399	97933399	+	Silent	SNP	G	G	C			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr9:97933399G>C	ENST00000289081.3	-	6	737	c.483C>G	c.(481-483)ctC>ctG	p.L161L	FANCC_ENST00000375305.1_Silent_p.L161L|snoU13_ENST00000459065.1_RNA	NM_000136.2	NP_000127.2	Q00597	FANCC_HUMAN	Fanconi anemia, complementation group C	161					DNA repair (GO:0006281)|germ cell development (GO:0007281)|myeloid cell homeostasis (GO:0002262)|nucleotide-excision repair (GO:0006289)|protein complex assembly (GO:0006461)|removal of superoxide radicals (GO:0019430)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|Fanconi anaemia nuclear complex (GO:0043240)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				kidney(1)|skin(1)|upper_aerodigestive_tract(1)	3		Acute lymphoblastic leukemia(62;0.138)				GATTCTCTCTGAGTTCAGACG	0.363			"""D, Mis, N, F, S"""			"""AML, leukemia"""		Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000289081.3			yes	Rec		Fanconi anaemia C	9	9q22.3	2176	"""D, Mis, N, F, S"""	"""Fanconi anemia, complementation group C"""			L		"""AML, leukemia"""			0				kidney(1)|skin(1)|upper_aerodigestive_tract(1)	3						c.(481-483)ctC>ctG	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group C							102.0	97.0	99.0					9																	97933399		2203	4300	6503	SO:0001819	synonymous_variant	2176	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	protein complex assembly	cytosol|nucleoplasm	protein binding	g.chr9:97933399G>C	BC006303	CCDS35071.1, CCDS75861.1	9q22.3	2014-09-17			ENSG00000158169	ENSG00000158169		"""Fanconi anemia, complementation groups"""	3584	protein-coding gene	gene with protein product		613899		FACC		1303234	Standard	NM_001243743		Approved	FAC, FA3	uc004avh.3	Q00597	OTTHUMG00000020279	ENST00000289081.3:c.483C>G	9.37:g.97933399G>C						FANCC_ENST00000375305.1_Silent_p.L161L	p.L161L	NM_000136.2	NP_000127.2	Q00597	FANCC_HUMAN			6	737	-		Acute lymphoblastic leukemia(62;0.138)	161					B1ALR8	Silent	SNP	ENST00000289081.3	37	c.483C>G	CCDS35071.1																																																																																				0.363	FANCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053219.1	NM_000136		7	26	0	0	0	0.003080	0	7	26				
INTS9	55756	broad.mit.edu	37	8	28635438	28635438	+	Missense_Mutation	SNP	G	G	C			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr8:28635438G>C	ENST00000521022.1	-	13	1384	c.1303C>G	c.(1303-1305)Cct>Gct	p.P435A	INTS9_ENST00000397363.4_Missense_Mutation_p.P329A|INTS9_ENST00000416984.2_Missense_Mutation_p.P414A|INTS9_ENST00000521777.1_Missense_Mutation_p.P411A|INTS9_ENST00000521070.1_5'UTR	NM_018250.3	NP_060720.2	Q9NV88	INT9_HUMAN	integrator complex subunit 9	435					snRNA processing (GO:0016180)	cytoplasm (GO:0005737)|integrator complex (GO:0032039)|nucleus (GO:0005634)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19		Ovarian(32;0.0439)		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)		GGCTGGTAAGGAGCCAGGGCT	0.502																																						ENST00000416984.2																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(3)|lung(6)|pancreas(2)|prostate(1)|urinary_tract(2)	19						c.(1240-1242)Cct>Gct		integrator complex subunit 9							71.0	68.0	69.0					8																	28635438		2203	4300	6503	SO:0001583	missense	55756				snRNA processing	integrator complex	protein binding	g.chr8:28635438G>C	BC025267	CCDS34873.1, CCDS55215.1, CCDS55216.1	8p21.1	2008-02-05			ENSG00000104299	ENSG00000104299			25592	protein-coding gene	gene with protein product		611352				16239144	Standard	NM_001172562		Approved	FLJ10871, CPSF2L, RC-74	uc011lav.2	Q9NV88	OTTHUMG00000164030	ENST00000521022.1:c.1303C>G	8.37:g.28635438G>C	ENSP00000429065:p.Pro435Ala					INTS9_ENST00000521070.1_5'UTR|INTS9_ENST00000397363.4_Missense_Mutation_p.P329A|INTS9_ENST00000521022.1_Missense_Mutation_p.P435A|INTS9_ENST00000521777.1_Missense_Mutation_p.P411A	p.P414A	NM_001145159.2	NP_001138631.1	Q9NV88	INT9_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.127)|Kidney(114;0.152)	12	1599	-		Ovarian(32;0.0439)	435					B7Z560|B7Z6M5|O00224|Q8TB16	Missense_Mutation	SNP	ENST00000521022.1	37	c.1240C>G	CCDS34873.1	.	.	.	.	.	.	.	.	.	.	G	26.4	4.736397	0.89482	.	.	ENSG00000104299	ENST00000521022;ENST00000416984;ENST00000541706;ENST00000521777;ENST00000397363	T;T;T;T	0.55760	0.53;0.55;0.55;0.5	5.28	5.28	0.74379	.	0.055332	0.85682	D	0.000000	T	0.73118	0.3546	M	0.75615	2.305	0.80722	D	1	D;D	0.67145	0.996;0.996	P;D	0.70716	0.871;0.97	T	0.75605	-0.3260	10	0.59425	D	0.04	-21.4812	18.9064	0.92464	0.0:0.0:1.0:0.0	.	414;435	B7Z6M5;Q9NV88	.;INT9_HUMAN	A	435;414;279;411;329	ENSP00000429065:P435A;ENSP00000398208:P414A;ENSP00000430943:P411A;ENSP00000380520:P329A	ENSP00000380520:P329A	P	-	1	0	INTS9	28691357	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.700000	0.98707	2.459000	0.83118	0.655000	0.94253	CCT		0.502	INTS9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376846.1	NM_018250		8	43	0	0	0	0.006214	0	8	43				
VEZT	55591	broad.mit.edu	37	12	95660246	95660246	+	Missense_Mutation	SNP	G	G	C			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr12:95660246G>C	ENST00000436874.1	+	5	653	c.548G>C	c.(547-549)aGa>aCa	p.R183T	VEZT_ENST00000261219.6_Missense_Mutation_p.R135T|VEZT_ENST00000356859.4_3'UTR	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN	vezatin, adherens junctions transmembrane protein	183					chordate embryonic development (GO:0043009)|single organismal cell-cell adhesion (GO:0016337)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|stereocilia ankle link complex (GO:0002142)				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						CTGGTCATAAGAGCTTTGAGA	0.428																																						ENST00000436874.1																			0				endometrium(2)|kidney(3)|large_intestine(1)|lung(14)|ovary(2)|upper_aerodigestive_tract(1)	23						c.(547-549)aGa>aCa		vezatin, adherens junctions transmembrane protein							244.0	233.0	237.0					12																	95660246		1903	4128	6031	SO:0001583	missense	55591					acrosomal vesicle|adherens junction|integral to membrane|nucleus		g.chr12:95660246G>C	AF216644	CCDS44954.1	12q22	2011-02-15			ENSG00000028203	ENSG00000028203			18258	protein-coding gene	gene with protein product						11080149, 16199027, 21156161	Standard	NM_017599		Approved	DKFZP761C241	uc001tdz.2	Q9HBM0	OTTHUMG00000170182	ENST00000436874.1:c.548G>C	12.37:g.95660246G>C	ENSP00000410083:p.Arg183Thr					VEZT_ENST00000356859.4_3'UTR|VEZT_ENST00000261219.6_Missense_Mutation_p.R135T	p.R183T	NM_017599.3	NP_060069.3	Q9HBM0	VEZA_HUMAN			5	653	+			183					Q6P1Q3|Q9H2F4|Q9H2U5|Q9NT70|Q9NVW0|Q9UF91	Missense_Mutation	SNP	ENST00000436874.1	37	c.548G>C	CCDS44954.1	.	.	.	.	.	.	.	.	.	.	G	13.23	2.174339	0.38413	.	.	ENSG00000028203	ENST00000436874;ENST00000549002;ENST00000261219;ENST00000397792;ENST00000397796	T;T;T;T	0.61627	1.0;0.09;1.0;1.0	5.09	4.21	0.49690	.	0.046432	0.85682	D	0.000000	T	0.60340	0.2261	M	0.64997	1.995	0.45194	D	0.998208	P;B;B;B	0.36683	0.565;0.031;0.025;0.031	P;B;B;B	0.46543	0.52;0.048;0.017;0.026	T	0.56306	-0.8001	10	0.27082	T	0.32	-31.0163	9.5674	0.39407	0.0755:0.1418:0.7828:0.0	.	183;183;135;135	C9J154;Q9HBM0;F8W8C2;F2Z3A6	.;VEZA_HUMAN;.;.	T	183;153;135;135;183	ENSP00000410083:R183T;ENSP00000449591:R153T;ENSP00000261219:R135T;ENSP00000380894:R135T	ENSP00000261219:R135T	R	+	2	0	VEZT	94184377	1.000000	0.71417	0.904000	0.35570	0.460000	0.32559	4.695000	0.61767	1.261000	0.44149	0.650000	0.86243	AGA		0.428	VEZT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407804.2	NM_017599		38	224	0	0	0	0.004289	0	38	224				
DYX1C1	161582	broad.mit.edu	37	15	55727220	55727220	+	Missense_Mutation	SNP	G	G	C			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr15:55727220G>C	ENST00000321149.3	-	8	1297	c.930C>G	c.(928-930)atC>atG	p.I310M	DYX1C1_ENST00000380679.1_Missense_Mutation_p.I310M|DYX1C1_ENST00000457155.2_Missense_Mutation_p.I310M|DYX1C1-CCPG1_ENST00000565113.1_RNA|DYX1C1_ENST00000448430.2_Missense_Mutation_p.I310M|DYX1C1_ENST00000348518.3_Missense_Mutation_p.I310M	NM_130810.3	NP_570722.2	Q8WXU2	DYXC1_HUMAN	dyslexia susceptibility 1 candidate 1	310					cilium movement (GO:0003341)|determination of left/right symmetry (GO:0007368)|inner dynein arm assembly (GO:0036159)|neuron migration (GO:0001764)|outer dynein arm assembly (GO:0036158)|regulation of intracellular estrogen receptor signaling pathway (GO:0033146)|regulation of proteasomal protein catabolic process (GO:0061136)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	estrogen receptor binding (GO:0030331)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18				all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)		TATATGCATTGATAGCTGCCA	0.318																																						ENST00000321149.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(1)|lung(7)|ovary(3)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	18						c.(928-930)atC>atG		dyslexia susceptibility 1 candidate 1							79.0	81.0	80.0					15																	55727220		2191	4290	6481	SO:0001583	missense	161582				neuron migration|regulation of estrogen receptor signaling pathway|regulation of proteasomal protein catabolic process	cytoplasm|nucleus	estrogen receptor binding	g.chr15:55727220G>C		CCDS10154.1, CCDS32243.1, CCDS32244.1	15q21.3	2014-09-11			ENSG00000256061	ENSG00000256061		"""Tetratricopeptide (TTC) repeat domain containing"""	21493	protein-coding gene	gene with protein product		608706				12954984	Standard	NM_130810		Approved	EKN1, FLJ37882, CILD25	uc002adc.3	Q8WXU2	OTTHUMG00000132008	ENST00000321149.3:c.930C>G	15.37:g.55727220G>C	ENSP00000323275:p.Ile310Met					DYX1C1_ENST00000448430.2_Missense_Mutation_p.I310M|DYX1C1-CCPG1_ENST00000565113.1_RNA|DYX1C1_ENST00000348518.3_Missense_Mutation_p.I310M|DYX1C1_ENST00000380679.1_Missense_Mutation_p.I310M|DYX1C1_ENST00000457155.2_Missense_Mutation_p.I310M	p.I310M	NM_130810.3	NP_570722.2	Q8WXU2	DYXC1_HUMAN		all cancers(107;0.0118)|GBM - Glioblastoma multiforme(80;0.171)	8	1297	-			310					Q6P5Y9|Q8N1S6	Missense_Mutation	SNP	ENST00000321149.3	37	c.930C>G	CCDS10154.1	.	.	.	.	.	.	.	.	.	.	G	15.23	2.772341	0.49680	.	.	ENSG00000256061	ENST00000448430;ENST00000380679;ENST00000457155;ENST00000321149;ENST00000348518	T;T;T;T;T	0.66815	-0.23;-0.23;-0.23;-0.23;-0.23	5.23	0.054	0.14308	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.324515	0.26715	U	0.022866	T	0.73345	0.3575	M	0.80183	2.485	0.23271	N	0.998004	P;P;D	0.57257	0.913;0.754;0.979	P;D;P	0.63033	0.805;0.91;0.79	T	0.63589	-0.6603	10	0.87932	D	0	-12.6876	1.7361	0.02942	0.3841:0.2161:0.2868:0.113	.	310;310;310	Q8WXU2-3;Q8WXU2;Q8WXU2-2	.;DYXC1_HUMAN;.	M	310	ENSP00000403412:I310M;ENSP00000370054:I310M;ENSP00000402640:I310M;ENSP00000323275:I310M;ENSP00000299561:I310M	ENSP00000323275:I310M	I	-	3	3	DYX1C1	53514512	0.991000	0.36638	0.881000	0.34555	0.895000	0.52256	0.329000	0.19698	-0.149000	0.11215	-1.012000	0.02466	ATC		0.318	DYX1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254976.1	NM_130810		13	75	0	0	0	0.001855	0	13	75				
ABL2	27	broad.mit.edu	37	1	179077269	179077269	+	Nonsense_Mutation	SNP	G	G	A			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr1:179077269G>A	ENST00000502732.1	-	12	3336	c.3133C>T	c.(3133-3135)Caa>Taa	p.Q1045*	ABL2_ENST00000507173.1_Nonsense_Mutation_p.Q921*|ABL2_ENST00000511413.1_Nonsense_Mutation_p.Q942*|ABL2_ENST00000504405.1_Nonsense_Mutation_p.Q906*|ABL2_ENST00000408940.3_Nonsense_Mutation_p.Q1009*|ABL2_ENST00000344730.3_Nonsense_Mutation_p.Q927*|ABL2_ENST00000367623.4_Nonsense_Mutation_p.Q1024*|ABL2_ENST00000512653.1_Nonsense_Mutation_p.Q1030*	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	ABL proto-oncogene 2, non-receptor tyrosine kinase	1045	F-actin-binding. {ECO:0000250}.|Pro-rich.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|cellular response to retinoic acid (GO:0071300)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phospholipase C activity (GO:0010863)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	AGAGGCACTTGAGGTGGAGGC	0.552			T	ETV6	AML																																	ENST00000502732.1				Dom	yes		1	1q24-q25	27	T	v-abl Abelson murine leukemia viral oncogene homolog 2			L	ETV6		AML		0				breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65						c.(3133-3135)Caa>Taa		c-abl oncogene 2, non-receptor tyrosine kinase	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)						85.0	81.0	82.0					1																	179077269		2203	4300	6503	SO:0001587	stop_gained	27				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr1:179077269G>A	M14904	CCDS30947.1, CCDS41441.1, CCDS44282.1, CCDS44283.1, CCDS41441.2, CCDS53435.1, CCDS53436.1, CCDS53437.1, CCDS53438.1	1q25.2	2014-06-26	2014-06-26		ENSG00000143322	ENSG00000143322		"""SH2 domain containing"""	77	protein-coding gene	gene with protein product	"""Abelson-related gene"""	164690	"""v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene)"", ""v-abl Abelson murine leukemia viral oncogene homolog 2"", ""c-abl oncogene 2, non-receptor tyrosine kinase"""	ABLL		3787260	Standard	NM_001136001		Approved	ARG	uc001gmi.4	P42684	OTTHUMG00000035199	ENST00000502732.1:c.3133C>T	1.37:g.179077269G>A	ENSP00000427562:p.Gln1045*					ABL2_ENST00000504405.1_Nonsense_Mutation_p.Q906*|ABL2_ENST00000344730.3_Nonsense_Mutation_p.Q927*|ABL2_ENST00000512653.1_Nonsense_Mutation_p.Q1030*|ABL2_ENST00000408940.3_Nonsense_Mutation_p.Q1009*|ABL2_ENST00000511413.1_Nonsense_Mutation_p.Q942*|ABL2_ENST00000367623.4_Nonsense_Mutation_p.Q1024*|ABL2_ENST00000507173.1_Nonsense_Mutation_p.Q921*	p.Q1045*	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN			12	3336	-			1045			F-actin-binding (By similarity).|Pro-rich.		A0M8X0|B7UEF2|B7UEF3|B7UEF4|B7UEF5|Q5T0X6|Q5W0C5|Q6NZY6|Q7Z301	Nonsense_Mutation	SNP	ENST00000502732.1	37	c.3133C>T	CCDS30947.1	.	.	.	.	.	.	.	.	.	.	G	37	6.018564	0.97205	.	.	ENSG00000143322	ENST00000502732;ENST00000408940;ENST00000344730;ENST00000512653;ENST00000504405;ENST00000367623;ENST00000507173;ENST00000511413	.	.	.	5.35	5.35	0.76521	.	0.000000	0.50627	D	0.000106	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.06099	T	0.92	.	18.4316	0.90627	0.0:0.0:1.0:0.0	.	.	.	.	X	1045;1009;927;1030;906;1024;921;942	.	ENSP00000339209:Q927X	Q	-	1	0	ABL2	177343892	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.055000	0.93873	2.655000	0.90218	0.655000	0.94253	CAA		0.552	ABL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085174.3	NM_005158		10	91	0	0	0	0.006214	0	10	91				
HADH	3033	broad.mit.edu	37	4	108911038	108911038	+	Missense_Mutation	SNP	C	C	T	rs536959577|rs574132278	byFrequency	TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr4:108911038C>T	ENST00000403312.1	+	1	169	c.127C>T	c.(127-129)Cgc>Tgc	p.R43C	HADH_ENST00000505878.1_5'Flank|HADH_ENST00000309522.3_5'UTR|HADH_ENST00000603302.1_5'UTR	NM_001184705.2	NP_001171634.2	P40939	ECHA_HUMAN	hydroxyacyl-CoA dehydrogenase	0					cardiolipin acyl-chain remodeling (GO:0035965)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|glycerophospholipid biosynthetic process (GO:0046474)|phospholipid metabolic process (GO:0006644)|response to drug (GO:0042493)|response to insulin (GO:0032868)|small molecule metabolic process (GO:0044281)	mitochondrial fatty acid beta-oxidation multienzyme complex (GO:0016507)|mitochondrial inner membrane (GO:0005743)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)	3-hydroxyacyl-CoA dehydrogenase activity (GO:0003857)|acetyl-CoA C-acetyltransferase activity (GO:0003985)|enoyl-CoA hydratase activity (GO:0004300)|fatty-acyl-CoA binding (GO:0000062)|long-chain-3-hydroxyacyl-CoA dehydrogenase activity (GO:0016509)|long-chain-enoyl-CoA hydratase activity (GO:0016508)|NAD binding (GO:0051287)			endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	15		Hepatocellular(203;0.217)		OV - Ovarian serous cystadenocarcinoma(123;0.000168)		CTGCCCGCCTCGCGCGTCTTC	0.741																																						ENST00000403312.1																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(3)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	15						c.(127-129)Cgc>Tgc		hydroxyacyl-CoA dehydrogenase	NADH(DB00157)						15.0	13.0	14.0					4																	108911038		2196	4288	6484	SO:0001583	missense	3033				fatty acid beta-oxidation	mitochondrial matrix	3-hydroxyacyl-CoA dehydrogenase activity|NAD+ binding	g.chr4:108911038C>T	X96752	CCDS3678.1, CCDS54790.1	4q22-q26	2012-10-02	2010-04-30		ENSG00000138796	ENSG00000138796	1.1.1.35		4799	protein-coding gene	gene with protein product		601609	"""L-3-hydroxyacyl-Coenzyme A dehydrogenase, short chain"", ""hydroxyacyl-Coenzyme A dehydrogenase"""	HADHSC		975867, 16176262	Standard	NM_001184705		Approved	HADH1, SCHAD	uc010ilx.3	Q16836	OTTHUMG00000131810	ENST00000403312.1:c.127C>T	4.37:g.108911038C>T	ENSP00000385638:p.Arg43Cys					HADH_ENST00000603302.1_5'UTR|HADH_ENST00000309522.3_5'UTR	p.R43C	NM_001184705.2	NP_001171634.2	Q16836	HCDH_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000168)	1	169	+		Hepatocellular(203;0.217)	0					B2R7L4|B4DYP2|Q16679|Q53T69|Q53TA2|Q96GT7|Q9UQC5	Missense_Mutation	SNP	ENST00000403312.1	37	c.127C>T																																																																																					0.741	HADH-002	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000254751.3	NM_005327		4	12	0	0	0	0.009096	0	4	12				
SESN1	27244	broad.mit.edu	37	6	109322623	109322623	+	Silent	SNP	G	G	A			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr6:109322623G>A	ENST00000356644.7	-	3	331	c.237C>T	c.(235-237)ggC>ggT	p.G79G	SESN1_ENST00000302071.2_Silent_p.G13G|RP11-787I22.3_ENST00000605885.1_RNA|SESN1_ENST00000436639.2_Silent_p.G138G	NM_001199933.1	NP_001186862.1	Q9Y6P5	SESN1_HUMAN	sestrin 1	79					cell cycle arrest (GO:0007050)|cellular response to DNA damage stimulus (GO:0006974)|negative regulation of cell proliferation (GO:0008285)|regulation of protein kinase B signaling (GO:0051896)|regulation of response to reactive oxygen species (GO:1901031)	nucleus (GO:0005634)				cervix(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	10		all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637)		Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117)		TATCCAAACGGCCCAAAGCAG	0.403																																						ENST00000436639.2																			0				cervix(1)|large_intestine(3)|lung(3)|ovary(1)|skin(1)|urinary_tract(1)	10						c.(412-414)ggC>ggT		sestrin 1							93.0	85.0	88.0					6																	109322623		2203	4300	6503	SO:0001819	synonymous_variant	27244				cell cycle arrest|negative regulation of cell proliferation|response to DNA damage stimulus	nucleus		g.chr6:109322623G>A	AF033120	CCDS5070.1, CCDS56444.1, CCDS56445.1	6q21	2008-10-23			ENSG00000080546	ENSG00000080546			21595	protein-coding gene	gene with protein product		606103				9926927, 7938006	Standard	NM_014454		Approved	SEST1, PA26	uc003psu.3	Q9Y6P5	OTTHUMG00000015338	ENST00000356644.7:c.237C>T	6.37:g.109322623G>A						SESN1_ENST00000356644.7_Silent_p.G79G|SESN1_ENST00000302071.2_Silent_p.G13G	p.G138G	NM_014454.2	NP_055269.1	Q9Y6P5	SESN1_HUMAN		Epithelial(106;0.0014)|BRCA - Breast invasive adenocarcinoma(108;0.00146)|all cancers(137;0.0031)|OV - Ovarian serous cystadenocarcinoma(136;0.0117)	3	1159	-		all_cancers(87;6.45e-05)|Acute lymphoblastic leukemia(125;3.55e-10)|all_hematologic(75;1.68e-07)|all_epithelial(87;0.0106)|Colorectal(196;0.0637)	79					Q2M2B7|Q5T316|Q9NV00|Q9UPD5|Q9Y6P6	Silent	SNP	ENST00000356644.7	37	c.414C>T	CCDS56445.1																																																																																				0.403	SESN1-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041738.4	NM_014454		3	33	0	0	0	0.004672	0	3	33				
ABCB5	340273	broad.mit.edu	37	7	20782555	20782555	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr7:20782555G>A	ENST00000404938.2	+	25	3732	c.3080G>A	c.(3079-3081)cGc>cAc	p.R1027H	ABCB5_ENST00000258738.6_Missense_Mutation_p.R582H	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN	ATP-binding cassette, sub-family B (MDR/TAP), member 5	1027	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				antigen processing and presentation of endogenous peptide antigen via MHC class I via ER pathway, TAP-dependent (GO:0002485)|antigen processing and presentation of endogenous peptide antigen via MHC class Ib via ER pathway, TAP-dependent (GO:0002489)|antigen processing and presentation of exogenous protein antigen via MHC class Ib, TAP-dependent (GO:0002481)|cell differentiation (GO:0030154)|compound eye corneal lens development (GO:0048058)|positive regulation of antigen processing and presentation of peptide antigen via MHC class I (GO:0002591)|regulation of membrane potential (GO:0042391)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)|efflux transmembrane transporter activity (GO:0015562)			breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						TATCCATGTCGCCCAGATGTT	0.468																																						ENST00000404938.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(1)|pancreas(1)|prostate(1)|skin(10)|upper_aerodigestive_tract(1)	77						c.(3079-3081)cGc>cAc		ATP-binding cassette, sub-family B (MDR/TAP), member 5							142.0	134.0	137.0					7																	20782555		2203	4300	6503	SO:0001583	missense	340273				regulation of membrane potential	apical plasma membrane|Golgi membrane|integral to plasma membrane|intercellular canaliculus	ATP binding|ATPase activity, coupled to transmembrane movement of substances|efflux transmembrane transporter activity	g.chr7:20782555G>A	U66692	CCDS5371.1, CCDS55090.1, CCDS55091.1, CCDS55092.1	7p14	2012-03-14			ENSG00000004846	ENSG00000004846		"""ATP binding cassette transporters / subfamily B"""	46	protein-coding gene	gene with protein product	"""P-glycoprotein ABCB5"", ""ATP-binding cassette protein"""	611785				8894702, 12960149	Standard	NM_001163942		Approved	EST422562, ABCB5beta, ABCB5alpha	uc010kuh.3	Q2M3G0	OTTHUMG00000094789	ENST00000404938.2:c.3080G>A	7.37:g.20782555G>A	ENSP00000384881:p.Arg1027His					ABCB5_ENST00000258738.6_Missense_Mutation_p.R582H	p.R1027H	NM_001163941.1	NP_001157413.1	Q2M3G0	ABCB5_HUMAN			25	3732	+			582					A4D131|A7BKA4|B5MD19|B7WPL1|F8QQP8|F8QQP9|J3KQ04|Q2M3I5|Q5I5Q7|Q5I5Q8|Q6KG50|Q6XFQ5|Q8IXA1	Missense_Mutation	SNP	ENST00000404938.2	37	c.3080G>A	CCDS55090.1	.	.	.	.	.	.	.	.	.	.	G	25.3	4.627434	0.87560	.	.	ENSG00000004846	ENST00000404938;ENST00000258738	D;D	0.90788	-2.73;-2.73	4.96	4.06	0.47325	ABC transporter-like (1);	0.000000	0.52532	D	0.000069	D	0.91382	0.7281	L	0.28694	0.88	0.51767	D	0.999932	D;D	0.89917	1.0;1.0	D;D	0.80764	0.994;0.989	D	0.91792	0.5444	10	0.87932	D	0	.	12.7195	0.57134	0.0833:0.0:0.9167:0.0	.	1027;582	A7BKA4;Q2M3G0	.;ABCB5_HUMAN	H	1027;582	ENSP00000384881:R1027H;ENSP00000258738:R582H	ENSP00000258738:R582H	R	+	2	0	ABCB5	20749080	0.997000	0.39634	0.998000	0.56505	0.940000	0.58332	6.253000	0.72453	2.575000	0.86900	0.650000	0.86243	CGC		0.468	ABCB5-004	PUTATIVE	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000326736.2	NM_178559		7	49	0	0	0	0.003080	0	7	49				
ZNF250	58500	broad.mit.edu	37	8	146107607	146107607	+	Missense_Mutation	SNP	G	G	T	rs2953878		TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr8:146107607G>T	ENST00000292579.7	-	6	1092	c.976C>A	c.(976-978)Ctg>Atg	p.L326M	ZNF250_ENST00000543949.1_Intron|ZNF250_ENST00000417550.2_Missense_Mutation_p.L321M|ZNF250_ENST00000342660.6_Intron	NM_001109689.3|NM_021061.4	NP_001103159.1|NP_066405.1	P15622	ZN250_HUMAN	zinc finger protein 250	326					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(2)|lung(8)|skin(1)	15	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)		TGGCTCCGCAGAACAGTGCTA	0.542																																					NSCLC(16;520 556 24096 40084 43446)	ENST00000292579.7																			0				endometrium(4)|kidney(2)|lung(8)|skin(1)	15						c.(976-978)Ctg>Atg		zinc finger protein 250							67.0	53.0	58.0					8																	146107607		2203	4300	6503	SO:0001583	missense	58500				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr8:146107607G>T	AK095705	CCDS34972.1, CCDS55282.1	8q24.3	2013-01-08	2004-11-08			ENSG00000196150		"""Zinc fingers, C2H2-type"", ""-"""	13044	protein-coding gene	gene with protein product			"""zinc finger protein 647"""	ZNF647		12477932	Standard	NM_021061		Approved	MGC9718, ZFP647	uc003zer.4	P15622		ENST00000292579.7:c.976C>A	8.37:g.146107607G>T	ENSP00000292579:p.Leu326Met					ZNF250_ENST00000543949.1_Intron|ZNF250_ENST00000417550.2_Missense_Mutation_p.L321M|ZNF250_ENST00000342660.6_Intron	p.L326M	NM_001109689.3|NM_021061.4	NP_001103159.1|NP_066405.1	P15622	ZN250_HUMAN	Epithelial(56;2.53e-38)|OV - Ovarian serous cystadenocarcinoma(54;4.07e-38)|all cancers(56;2.27e-33)|BRCA - Breast invasive adenocarcinoma(115;0.0355)|Colorectal(110;0.055)	GBM - Glioblastoma multiforme(99;0.0654)	6	1092	-	all_cancers(97;8.72e-12)|all_epithelial(106;1.07e-10)|Lung NSC(106;7.18e-05)|all_lung(105;0.00021)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		326					D3DWP1|Q59HE9|Q8N942|Q96AH9	Missense_Mutation	SNP	ENST00000292579.7	37	c.976C>A	CCDS34972.1	.	.	.	.	.	.	.	.	.	.	G	15.60	2.881202	0.51801	.	.	ENSG00000196150	ENST00000292579;ENST00000417550;ENST00000394912	T;T	0.53640	0.61;0.61	3.94	2.12	0.27331	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.38005	N	0.001852	T	0.62368	0.2422	M	0.70787	2.145	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	T	0.62369	-0.6869	10	0.87932	D	0	-24.5351	8.0005	0.30293	0.2087:0.0:0.7913:0.0	.	321;326	D3DWP1;P15622	.;ZN250_HUMAN	M	326;321;321	ENSP00000292579:L326M;ENSP00000393442:L321M	ENSP00000292579:L326M	L	-	1	2	ZNF250	146078411	0.507000	0.26146	0.686000	0.30086	0.945000	0.59286	0.809000	0.27168	0.632000	0.30432	0.313000	0.20887	CTG		0.542	ZNF250-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000382968.1	NM_021061		10	14	1	0	1.08611e-07	0.010729	1.31476e-07	10	14				
ESPNP	284729	broad.mit.edu	37	1	17023376	17023376	+	RNA	SNP	C	C	T	rs613579	byFrequency	TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr1:17023376C>T	ENST00000492551.1	-	0	1571					NR_026567.1				espin pseudogene																		CCAGTAGCTCCGAGTTGTCGC	0.617													c|||	1978	0.394968	0.2474	0.415	5008	,	,		39011	0.497		0.4264	False		,,,				2504	0.4427					ENST00000492551.1																			0																																																			0							g.chr1:17023376C>T	AL035288		1p36.13	2013-05-22			ENSG00000268869	ENSG00000268869			23285	pseudogene	pseudogene						15286153	Standard	NR_026567		Approved		uc001azn.1		OTTHUMG00000000803		1.37:g.17023376C>T								NR_026567.1						0	1571	-									RNA	SNP	ENST00000492551.1	37																																																																																						0.617	ESPNP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000326311.1			6	46	0	0	0	0.001984	0	6	46				
DNAH9	1770	broad.mit.edu	37	17	11515089	11515089	+	Missense_Mutation	SNP	T	T	C			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr17:11515089T>C	ENST00000262442.4	+	4	964	c.896T>C	c.(895-897)gTt>gCt	p.V299A	DNAH9_ENST00000454412.2_Missense_Mutation_p.V299A|DNAH9_ENST00000579828.1_Missense_Mutation_p.V299A	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN	dynein, axonemal, heavy chain 9	299	Stem. {ECO:0000250}.				cell projection organization (GO:0030030)|cellular component movement (GO:0006928)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)|spermatogenesis (GO:0007283)	axoneme (GO:0005930)|cytoskeleton (GO:0005856)|dynein complex (GO:0030286)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290		Breast(5;0.0122)|all_epithelial(5;0.131)		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)		TACAGAGATGTTGTTGCAGGT	0.453																																						ENST00000262442.3																			0				NS(2)|autonomic_ganglia(1)|breast(15)|central_nervous_system(5)|endometrium(17)|haematopoietic_and_lymphoid_tissue(6)|kidney(17)|large_intestine(49)|liver(2)|lung(123)|ovary(6)|pancreas(1)|prostate(6)|skin(21)|stomach(2)|upper_aerodigestive_tract(13)|urinary_tract(4)	290						c.(895-897)gTt>gCt		dynein, axonemal, heavy chain 9							133.0	121.0	125.0					17																	11515089		2203	4300	6503	SO:0001583	missense	1770				cell projection organization|cellular component movement|microtubule-based movement|spermatogenesis	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|ATPase activity|microtubule motor activity	g.chr17:11515089T>C	U61740	CCDS11160.1, CCDS11161.1	17p12	2009-05-07	2006-09-04		ENSG00000007174	ENSG00000007174		"""Axonemal dyneins"""	2953	protein-coding gene	gene with protein product		603330	"""dynein, axonemal, heavy polypeptide 17-like"", ""dynein, axonemal, heavy polypeptide 9"""	DNAH17L		8812413, 11247663	Standard	NM_001372		Approved	Dnahc9, KIAA0357, HL20, HL-20, DNAL1, DYH9	uc002gne.3	Q9NYC9	OTTHUMG00000130383	ENST00000262442.4:c.896T>C	17.37:g.11515089T>C	ENSP00000262442:p.Val299Ala					DNAH9_ENST00000579828.1_Missense_Mutation_p.V299A|DNAH9_ENST00000579406.1_3'UTR|DNAH9_ENST00000454412.2_Missense_Mutation_p.V299A	p.V299A	NM_001372.3	NP_001363.2	Q9NYC9	DYH9_HUMAN		Colorectal(4;6.88e-05)|COAD - Colon adenocarcinoma(4;0.000813)|READ - Rectum adenocarcinoma(10;0.157)	4	964	+		Breast(5;0.0122)|all_epithelial(5;0.131)	299			Stem (By similarity).		A2VCQ8|O15064|O95494|Q9NQ28	Missense_Mutation	SNP	ENST00000262442.4	37	c.896T>C	CCDS11160.1	.	.	.	.	.	.	.	.	.	.	T	16.49	3.139180	0.56936	.	.	ENSG00000007174	ENST00000262442;ENST00000454412	T;T	0.60299	0.2;0.2	5.69	5.69	0.88448	Dynein heavy chain, domain-1 (1);	0.312166	0.29602	N	0.011698	T	0.78960	0.4366	M	0.87900	2.915	0.80722	D	1	D;D	0.76494	0.994;0.999	D;D	0.71414	0.936;0.973	T	0.83031	-0.0162	10	0.87932	D	0	.	15.6096	0.76704	0.0:0.0:0.0:1.0	.	299;299	Q9NYC9;E7EP17	DYH9_HUMAN;.	A	299	ENSP00000262442:V299A;ENSP00000414874:V299A	ENSP00000262442:V299A	V	+	2	0	DNAH9	11455814	1.000000	0.71417	0.024000	0.17045	0.173000	0.22820	7.098000	0.76974	2.167000	0.68274	0.496000	0.49642	GTT		0.453	DNAH9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252756.2	NM_001372		4	83	0	0	0	0.009096	0	4	83				
DTNB	1838	broad.mit.edu	37	2	25754346	25754346	+	Missense_Mutation	SNP	T	T	C	rs369472992		TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr2:25754346T>C	ENST00000406818.3	-	9	1246	c.997A>G	c.(997-999)Ata>Gta	p.I333V	DTNB_ENST00000407038.3_Missense_Mutation_p.I333V|DTNB_ENST00000496972.2_Missense_Mutation_p.I276V|DTNB_ENST00000405222.1_Missense_Mutation_p.I333V|DTNB_ENST00000545439.1_Missense_Mutation_p.I129V|DTNB_ENST00000288642.8_Missense_Mutation_p.I333V|DTNB_ENST00000407661.3_Missense_Mutation_p.I333V|DTNB_ENST00000407186.1_Missense_Mutation_p.I333V|DTNB_ENST00000404103.3_Missense_Mutation_p.I333V	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	O60941	DTNB_HUMAN	dystrobrevin, beta	333						cytoplasm (GO:0005737)|synapse (GO:0045202)	calcium ion binding (GO:0005509)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					ACTTACACTATATGTGCAAGG	0.468																																						ENST00000406818.3																			0				endometrium(1)|large_intestine(3)|lung(4)|ovary(2)|upper_aerodigestive_tract(1)	11						c.(997-999)Ata>Gta		dystrobrevin, beta		T	VAL/ILE,VAL/ILE,VAL/ILE,VAL/ILE,VAL/ILE	0,3768		0,0,1884	152.0	148.0	149.0		997,997,997,997,997	4.0	1.0	2		149	1,8211		0,1,4105	no	missense,missense,missense,missense,missense	DTNB	NM_021907.3,NM_033147.2,NM_033148.2,NM_183360.1,NM_183361.1	29,29,29,29,29	0,1,5989	CC,CT,TT		0.0122,0.0,0.0083	benign,benign,benign,benign,benign	333/628,333/598,333/568,333/610,333/561	25754346	1,11979	1884	4106	5990	SO:0001583	missense	1838					cytoplasm	calcium ion binding|zinc ion binding	g.chr2:25754346T>C	AF022728	CCDS46233.1, CCDS46234.1, CCDS46235.1, CCDS46236.1, CCDS46237.1, CCDS58702.1, CCDS74496.1	2p23.2	2008-05-15			ENSG00000138101	ENSG00000138101			3058	protein-coding gene	gene with protein product		602415				9419360	Standard	NM_021907		Approved		uc002rgh.4	O60941	OTTHUMG00000152129	ENST00000406818.3:c.997A>G	2.37:g.25754346T>C	ENSP00000384084:p.Ile333Val					DTNB_ENST00000545439.1_Missense_Mutation_p.I129V|DTNB_ENST00000288642.8_Missense_Mutation_p.I333V|DTNB_ENST00000405222.1_Missense_Mutation_p.I333V|DTNB_ENST00000407661.3_Missense_Mutation_p.I333V|DTNB_ENST00000407038.3_Missense_Mutation_p.I333V|DTNB_ENST00000407186.1_Missense_Mutation_p.I333V|DTNB_ENST00000496972.2_Missense_Mutation_p.I276V|DTNB_ENST00000404103.3_Missense_Mutation_p.I333V	p.I333V	NM_001256303.1|NM_021907.4	NP_001243232.1|NP_068707.1	O60941	DTNB_HUMAN			9	1246	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		333					B7Z733|F5GZG4|G5E9F6|O43782|O60881|O75538|Q86VR4|Q96AW0|Q9UE14|Q9UE15|Q9UE16	Missense_Mutation	SNP	ENST00000406818.3	37	c.997A>G	CCDS46237.1	.	.	.	.	.	.	.	.	.	.	T	13.65	2.301170	0.40694	0.0	1.22E-4	ENSG00000138101	ENST00000496972;ENST00000406818;ENST00000404103;ENST00000407661;ENST00000407038;ENST00000405222;ENST00000407186;ENST00000288642;ENST00000545439;ENST00000535791	T;T;T;T;T;T;T;T;T	0.48201	2.18;2.2;2.18;2.21;2.18;2.18;2.18;2.17;0.82	5.15	3.97	0.46021	.	0.188712	0.53938	D	0.000041	T	0.42040	0.1185	L	0.55481	1.735	0.34188	D	0.671722	B;B;B;B;B;B;B;B;B;B;B;B	0.19583	0.0;0.002;0.001;0.037;0.003;0.001;0.003;0.002;0.004;0.0;0.005;0.001	B;B;B;B;B;B;B;B;B;B;B;B	0.22880	0.019;0.005;0.012;0.042;0.011;0.005;0.014;0.011;0.018;0.019;0.015;0.005	T	0.49244	-0.8960	10	0.33141	T	0.24	.	10.5591	0.45135	0.0:0.0:0.1617:0.8383	.	333;129;276;333;333;276;333;333;333;333;333;333	E7EVB6;B7Z202;F5GZG4;O60941-3;B7Z6A9;B7Z733;E9PEY4;Q96AW0;O60941-2;O60941-4;G5E9F6;O60941	.;.;.;.;.;.;.;.;.;.;.;DTNB_HUMAN	V	276;333;333;333;333;333;333;333;129;186	ENSP00000444463:I276V;ENSP00000384084:I333V;ENSP00000385482:I333V;ENSP00000385193:I333V;ENSP00000384767:I333V;ENSP00000384787:I333V;ENSP00000385784:I333V;ENSP00000288642:I333V;ENSP00000444961:I129V	ENSP00000288642:I333V	I	-	1	0	DTNB	25607850	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	4.936000	0.63506	0.755000	0.32990	0.383000	0.25322	ATA		0.468	DTNB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000325361.1	NM_033147		69	57	0	0	0	0.014410	0	69	57				
ERLEC1	27248	broad.mit.edu	37	2	54014378	54014378	+	Missense_Mutation	SNP	C	C	G			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr2:54014378C>G	ENST00000185150.4	+	1	162	c.31C>G	c.(31-33)Ctg>Gtg	p.L11V	ASB3_ENST00000498475.2_Intron|ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron|GPR75-ASB3_ENST00000406687.1_5'Flank|GPR75-ASB3_ENST00000263634.3_5'Flank|GPR75-ASB3_ENST00000394717.2_5'Flank|ERLEC1_ENST00000378239.5_Missense_Mutation_p.L11V|ERLEC1_ENST00000494373.1_3'UTR|ERLEC1_ENST00000405123.3_Missense_Mutation_p.L11V	NM_015701.4	NP_056516.2	Q96DZ1	ERLEC_HUMAN	endoplasmic reticulum lectin 1	11					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum lumen (GO:0005788)	glycoprotein binding (GO:0001948)			endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|stomach(1)|urinary_tract(1)	18						CGTACGGAGTCTGGTCCCGGG	0.692																																						ENST00000185150.4																			0				endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|stomach(1)|urinary_tract(1)	18						c.(31-33)Ctg>Gtg		endoplasmic reticulum lectin 1							35.0	43.0	40.0					2																	54014378		2202	4299	6501	SO:0001583	missense	27248				ER-associated protein catabolic process	endoplasmic reticulum lumen	glycoprotein binding|protein binding	g.chr2:54014378C>G	AF131849	CCDS1848.1, CCDS46283.1, CCDS46284.1	2p16	2010-03-19	2009-08-26	2009-08-26	ENSG00000068912	ENSG00000068912			25222	protein-coding gene	gene with protein product	"""erlectin 1"""	611229	"""chromosome 2 open reading frame 30"""	C2orf30		9110174, 8619474, 16531414, 18264092	Standard	NM_015701		Approved	CL25084, XTP3TPB, XTP3-B, ERLECTIN	uc002rxl.3	Q96DZ1	OTTHUMG00000129281	ENST00000185150.4:c.31C>G	2.37:g.54014378C>G	ENSP00000185150:p.Leu11Val					ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron|ERLEC1_ENST00000494373.1_3'UTR|ERLEC1_ENST00000405123.3_Missense_Mutation_p.L11V|ERLEC1_ENST00000378239.5_Missense_Mutation_p.L11V|ASB3_ENST00000498475.2_Intron	p.L11V	NM_015701.4	NP_056516.2	Q96DZ1	ERLEC_HUMAN			1	162	+			11					B2RDB4|B5MC72|O95901|Q6UWN7|Q9NUY7|Q9UQL4	Missense_Mutation	SNP	ENST00000185150.4	37	c.31C>G	CCDS1848.1	.	.	.	.	.	.	.	.	.	.	C	12.69	2.014463	0.35511	.	.	ENSG00000068912	ENST00000405123;ENST00000185150;ENST00000378239	T;T	0.44482	0.92;0.92	4.5	4.5	0.54988	.	0.736301	0.11836	N	0.524782	T	0.37625	0.1010	.	.	.	0.26563	N	0.973701	B;B;B	0.25486	0.079;0.127;0.127	B;B;B	0.29353	0.101;0.047;0.047	T	0.30621	-0.9972	9	0.52906	T	0.07	-0.0492	13.1953	0.59734	0.0:0.791:0.209:0.0	.	11;11;11	Q96DZ1-2;B5MC72;Q96DZ1	.;.;ERLEC_HUMAN	V	11	ENSP00000385629:L11V;ENSP00000185150:L11V	ENSP00000185150:L11V	L	+	1	2	ERLEC1	53867882	.	.	0.924000	0.36721	0.050000	0.14768	.	.	2.312000	0.78011	0.555000	0.69702	CTG		0.692	ERLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251404.1	NM_015701		11	43	0	0	0	0.008291	0	11	43				
LZTR1	8216	broad.mit.edu	37	22	21340177	21340177	+	Missense_Mutation	SNP	C	C	G			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr22:21340177C>G	ENST00000215739.8	+	3	670	c.311C>G	c.(310-312)tCc>tGc	p.S104C	LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Intron	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	leucine-zipper-like transcription regulator 1	104					anatomical structure morphogenesis (GO:0009653)|regulation of transcription, DNA-templated (GO:0006355)		sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)			AAAGACTGCTCCTGGTGCAGG	0.582																																						ENST00000215739.8																			0				breast(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(6)|lung(13)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(3)	42						c.(310-312)tCc>tGc		leucine-zipper-like transcription regulator 1							91.0	70.0	77.0					22																	21340177		2203	4300	6503	SO:0001583	missense	8216				anatomical structure morphogenesis		sequence-specific DNA binding transcription factor activity	g.chr22:21340177C>G	D38496	CCDS33606.1	22q11.21	2013-01-09	2004-12-10		ENSG00000099949	ENSG00000099949		"""BTB/POZ domain containing"""	6742	protein-coding gene	gene with protein product		600574	"""leucine-zipper-like transcriptional regulator 1"""			7633402, 16356934	Standard	NM_006767		Approved	LZTR-1, BTBD29	uc002zto.3	Q8N653	OTTHUMG00000150878	ENST00000215739.8:c.311C>G	22.37:g.21340177C>G	ENSP00000215739:p.Ser104Cys					LZTR1_ENST00000479606.1_3'UTR|LZTR1_ENST00000389355.3_Intron	p.S104C	NM_006767.3	NP_006758.2	Q8N653	LZTR1_HUMAN	LUSC - Lung squamous cell carcinoma(15;0.000204)|Lung(15;0.00494)|Epithelial(17;0.195)		3	670	+	all_cancers(11;1.83e-25)|all_epithelial(7;9.19e-23)|Lung NSC(8;3.06e-15)|all_lung(8;5.05e-14)|Melanoma(16;0.000465)|Ovarian(15;0.0028)|Colorectal(54;0.0332)|all_neural(72;0.142)	Lung SC(17;0.0262)	104					Q14776|Q20WK0	Missense_Mutation	SNP	ENST00000215739.8	37	c.311C>G	CCDS33606.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.739729	0.89573	.	.	ENSG00000099949	ENST00000539817;ENST00000215739	T	0.47528	0.84	4.52	4.52	0.55395	.	0.061156	0.64402	D	0.000002	T	0.65154	0.2664	M	0.64170	1.965	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.87578	0.998;0.995	T	0.65809	-0.6078	10	0.49607	T	0.09	-43.1161	15.1436	0.72630	0.0:1.0:0.0:0.0	.	104;63	Q8N653;F5GXU8	LZTR1_HUMAN;.	C	63;104	ENSP00000215739:S104C	ENSP00000215739:S104C	S	+	2	0	LZTR1	19670177	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.457000	0.80775	2.516000	0.84829	0.643000	0.83706	TCC		0.582	LZTR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320387.1	NM_006767		6	32	0	0	0	0.003080	0	6	32				
CHD7	55636	broad.mit.edu	37	8	61707670	61707670	+	Missense_Mutation	SNP	A	A	G			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr8:61707670A>G	ENST00000423902.2	+	4	2701	c.2222A>G	c.(2221-2223)gAg>gGg	p.E741G	CHD7_ENST00000524602.1_Intron|CHD7_ENST00000525508.1_Missense_Mutation_p.E741G	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	chromodomain helicase DNA binding protein 7	741					adult heart development (GO:0007512)|adult walking behavior (GO:0007628)|artery morphogenesis (GO:0048844)|blood circulation (GO:0008015)|central nervous system development (GO:0007417)|chromatin modification (GO:0016568)|cognition (GO:0050890)|cranial nerve development (GO:0021545)|embryonic hindlimb morphogenesis (GO:0035116)|epithelium development (GO:0060429)|face development (GO:0060324)|female genitalia development (GO:0030540)|genitalia development (GO:0048806)|heart morphogenesis (GO:0003007)|in utero embryonic development (GO:0001701)|inner ear morphogenesis (GO:0042472)|limb development (GO:0060173)|nose development (GO:0043584)|olfactory behavior (GO:0042048)|olfactory bulb development (GO:0021772)|olfactory nerve development (GO:0021553)|palate development (GO:0060021)|positive regulation of multicellular organism growth (GO:0040018)|regulation of growth hormone secretion (GO:0060123)|regulation of neurogenesis (GO:0050767)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|rRNA processing (GO:0006364)|semicircular canal morphogenesis (GO:0048752)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|T cell differentiation (GO:0030217)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.556_871dup(1)		NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	BRCA - Breast invasive adenocarcinoma(89;0.143)			GAAGAAGATGAGGACCCAGGT	0.433																																						ENST00000423902.2																			1	Insertion - In frame(1)	p.556_871dup(1)	lung(1)	NS(1)|breast(6)|central_nervous_system(8)|cervix(2)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(16)|lung(49)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(3)	123						c.(2221-2223)gAg>gGg		chromodomain helicase DNA binding protein 7							97.0	98.0	98.0					8																	61707670		1837	4082	5919	SO:0001583	missense	55636				central nervous system development|chromatin modification|cognition|cranial nerve development|face development|heart morphogenesis|in utero embryonic development|inner ear morphogenesis|nose development|palate development|regulation of growth hormone secretion|regulation of transcription, DNA-dependent|retina development in camera-type eye|skeletal system development|T cell differentiation|transcription, DNA-dependent	nucleus	ATP binding|chromatin binding|DNA binding|helicase activity	g.chr8:61707670A>G	AB037837	CCDS47865.1	8q12.2	2014-09-17				ENSG00000171316			20626	protein-coding gene	gene with protein product		608892	"""CHARGE association"""	CRG		15300250, 18834967	Standard	NM_017780		Approved	KIAA1416, FLJ20357, FLJ20361	uc003xue.3	Q9P2D1		ENST00000423902.2:c.2222A>G	8.37:g.61707670A>G	ENSP00000392028:p.Glu741Gly					CHD7_ENST00000524602.1_Intron|CHD7_ENST00000525508.1_Missense_Mutation_p.E741G	p.E741G	NM_017780.3	NP_060250.2	Q9P2D1	CHD7_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.143)		4	2701	+		all_cancers(86;0.2)|all_lung(136;0.0402)|Lung NSC(129;0.0459)|all_epithelial(80;0.0477)	741					D0VBA5|E9PNZ2|Q05DI5|Q2TAN4|Q66K35|Q7Z6C0|Q7Z7Q2|Q9NXA0|Q9NXA3	Missense_Mutation	SNP	ENST00000423902.2	37	c.2222A>G	CCDS47865.1	.	.	.	.	.	.	.	.	.	.	A	18.18	3.567685	0.65651	.	.	ENSG00000171316	ENST00000307121;ENST00000423902;ENST00000525508	D;T	0.82711	-1.64;-1.22	5.73	5.73	0.89815	.	0.154150	0.30419	N	0.009666	T	0.70868	0.3273	N	0.08118	0	0.49483	D	0.999796	B	0.20780	0.048	B	0.20767	0.031	T	0.68957	-0.5272	10	0.72032	D	0.01	-17.5982	16.3123	0.82883	1.0:0.0:0.0:0.0	.	741	Q9P2D1	CHD7_HUMAN	G	741	ENSP00000392028:E741G;ENSP00000436027:E741G	ENSP00000307304:E741G	E	+	2	0	CHD7	61870224	1.000000	0.71417	0.986000	0.45419	0.987000	0.75469	7.486000	0.81215	2.308000	0.77769	0.533000	0.62120	GAG		0.433	CHD7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383468.2	XM_098762		3	136	0	0	0	0.009096	0	3	136				
ERLEC1	27248	broad.mit.edu	37	2	54014410	54014410	+	Silent	SNP	C	C	T			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr2:54014410C>T	ENST00000185150.4	+	1	194	c.63C>T	c.(61-63)ctC>ctT	p.L21L	ASB3_ENST00000498475.2_Intron|ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron|GPR75-ASB3_ENST00000406687.1_5'Flank|GPR75-ASB3_ENST00000263634.3_5'Flank|GPR75-ASB3_ENST00000394717.2_5'Flank|ERLEC1_ENST00000378239.5_Silent_p.L21L|ERLEC1_ENST00000494373.1_3'UTR|ERLEC1_ENST00000405123.3_Silent_p.L21L	NM_015701.4	NP_056516.2	Q96DZ1	ERLEC_HUMAN	endoplasmic reticulum lectin 1	21					ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)	endoplasmic reticulum lumen (GO:0005788)	glycoprotein binding (GO:0001948)			endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|stomach(1)|urinary_tract(1)	18						TACTGGTCCTCTGCGGCCTCC	0.687																																						ENST00000185150.4																			0				endometrium(2)|large_intestine(4)|lung(8)|ovary(2)|stomach(1)|urinary_tract(1)	18						c.(61-63)ctC>ctT		endoplasmic reticulum lectin 1							42.0	50.0	47.0					2																	54014410		2203	4299	6502	SO:0001819	synonymous_variant	27248				ER-associated protein catabolic process	endoplasmic reticulum lumen	glycoprotein binding|protein binding	g.chr2:54014410C>T	AF131849	CCDS1848.1, CCDS46283.1, CCDS46284.1	2p16	2010-03-19	2009-08-26	2009-08-26	ENSG00000068912	ENSG00000068912			25222	protein-coding gene	gene with protein product	"""erlectin 1"""	611229	"""chromosome 2 open reading frame 30"""	C2orf30		9110174, 8619474, 16531414, 18264092	Standard	NM_015701		Approved	CL25084, XTP3TPB, XTP3-B, ERLECTIN	uc002rxl.3	Q96DZ1	OTTHUMG00000129281	ENST00000185150.4:c.63C>T	2.37:g.54014410C>T						ASB3_ENST00000406625.2_Intron|GPR75-ASB3_ENST00000352846.3_Intron|ERLEC1_ENST00000494373.1_3'UTR|ERLEC1_ENST00000405123.3_Silent_p.L21L|ERLEC1_ENST00000378239.5_Silent_p.L21L|ASB3_ENST00000498475.2_Intron	p.L21L	NM_015701.4	NP_056516.2	Q96DZ1	ERLEC_HUMAN			1	194	+			21					B2RDB4|B5MC72|O95901|Q6UWN7|Q9NUY7|Q9UQL4	Silent	SNP	ENST00000185150.4	37	c.63C>T	CCDS1848.1																																																																																				0.687	ERLEC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251404.1	NM_015701		14	64	0	0	0	0.002450	0	14	64				
EXOSC3	51010	broad.mit.edu	37	9	37783998	37783998	+	Missense_Mutation	SNP	G	G	C			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr9:37783998G>C	ENST00000327304.5	-	2	399	c.387C>G	c.(385-387)ttC>ttG	p.F129L	EXOSC3_ENST00000396521.3_Missense_Mutation_p.F129L|RP11-613M10.9_ENST00000540557.1_3'UTR|EXOSC3_ENST00000490516.1_5'UTR	NM_016042.3	NP_057126.2	Q9NQT5	EXOS3_HUMAN	exosome component 3	129					CUT catabolic process (GO:0071034)|DNA deamination (GO:0045006)|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|isotype switching (GO:0045190)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|positive regulation of isotype switching (GO:0045830)|RNA metabolic process (GO:0016070)|RNA phosphodiester bond hydrolysis, exonucleolytic (GO:0090503)|rRNA processing (GO:0006364)	cytoplasm (GO:0005737)|cytoplasmic exosome (RNase complex) (GO:0000177)|cytosol (GO:0005829)|exosome (RNase complex) (GO:0000178)|nuclear exosome (RNase complex) (GO:0000176)|nucleolus (GO:0005730)|nucleus (GO:0005634)|transcriptionally active chromatin (GO:0035327)	3'-5'-exoribonuclease activity (GO:0000175)|RNA binding (GO:0003723)			breast(2)|endometrium(1)|kidney(1)	4				GBM - Glioblastoma multiforme(29;0.00771)|Lung(182;0.221)		CATCAACTTTGAATATATCTC	0.383																																						ENST00000327304.5																			0				breast(2)|endometrium(1)|kidney(1)	4						c.(385-387)ttC>ttG		exosome component 3							121.0	114.0	116.0					9																	37783998		2203	4300	6503	SO:0001583	missense	51010				CUT catabolic process|DNA deamination|exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|isotype switching|rRNA processing	cytoplasmic exosome (RNase complex)|cytosol|nuclear exosome (RNase complex)|nucleolus|transcriptionally active chromatin	3'-5'-exoribonuclease activity|protein binding|RNA binding	g.chr9:37783998G>C	BC002437	CCDS35016.1, CCDS43805.1	9p11	2009-01-20			ENSG00000107371	ENSG00000107371			17944	protein-coding gene	gene with protein product	"""exosome component Rrp40"", ""CGI-102 protein"""	606489				10810093, 11110791	Standard	NM_016042		Approved	hRrp40p, Rrp40p, RRP40, CGI-102, p10, hRrp-40	uc004aal.3	Q9NQT5	OTTHUMG00000019932	ENST00000327304.5:c.387C>G	9.37:g.37783998G>C	ENSP00000323046:p.Phe129Leu					EXOSC3_ENST00000490516.1_5'UTR|RP11-613M10.9_ENST00000540557.1_3'UTR|EXOSC3_ENST00000396521.3_Missense_Mutation_p.F129L	p.F129L	NM_016042.3	NP_057126.2	Q9NQT5	EXOS3_HUMAN		GBM - Glioblastoma multiforme(29;0.00771)|Lung(182;0.221)	2	399	-			129					A8K0K6|Q5QP85|Q9Y3A8	Missense_Mutation	SNP	ENST00000327304.5	37	c.387C>G	CCDS35016.1	.	.	.	.	.	.	.	.	.	.	G	19.11	3.764108	0.69878	.	.	ENSG00000107371	ENST00000327304;ENST00000396521	D;D	0.81996	-1.56;-1.56	5.34	5.34	0.76211	.	0.000000	0.85682	D	0.000000	D	0.85111	0.5622	M	0.83603	2.65	0.80722	D	1	P;P	0.47191	0.717;0.891	B;P	0.45610	0.352;0.487	D	0.86656	0.1901	10	0.62326	D	0.03	-6.7177	10.3613	0.43996	0.0895:0.0:0.9105:0.0	.	129;129	A8K0K6;Q9NQT5	.;EXOS3_HUMAN	L	129	ENSP00000323046:F129L;ENSP00000379775:F129L	ENSP00000323046:F129L	F	-	3	2	EXOSC3	37773998	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	1.983000	0.40648	2.637000	0.89404	0.563000	0.77884	TTC		0.383	EXOSC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052478.3	NM_016042		15	76	0	0	0	0.002450	0	15	76				
UGGT2	55757	broad.mit.edu	37	13	96555252	96555252	+	Missense_Mutation	SNP	C	C	G			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr13:96555252C>G	ENST00000376747.3	-	21	2428	c.2358G>C	c.(2356-2358)gaG>gaC	p.E786D		NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN	UDP-glucose glycoprotein glucosyltransferase 2	786					cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|protein folding (GO:0006457)|protein N-linked glycosylation via asparagine (GO:0018279)|UDP-glucosylation (GO:0097359)	endoplasmic reticulum lumen (GO:0005788)	UDP-glucose:glycoprotein glucosyltransferase activity (GO:0003980)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						TAGCTGTGTTCTCTTCATTTA	0.333																																						ENST00000376747.3																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(17)|lung(20)|ovary(3)|pancreas(1)|prostate(4)|urinary_tract(2)	60						c.(2356-2358)gaG>gaC		UDP-glucose glycoprotein glucosyltransferase 2							76.0	78.0	78.0					13																	96555252		2202	4298	6500	SO:0001583	missense	55757				post-translational protein modification|protein folding|protein N-linked glycosylation via asparagine	endoplasmic reticulum lumen|ER-Golgi intermediate compartment	UDP-glucose:glycoprotein glucosyltransferase activity	g.chr13:96555252C>G	AF227906	CCDS9480.1	13q32.1	2009-07-23	2009-07-23	2009-07-23	ENSG00000102595	ENSG00000102595			15664	protein-coding gene	gene with protein product	"""UDP-glucose:glycoprotein glucosyltransferase 2"""	605898	"""UDP-glucose ceramide glucosyltransferase-like 2"""	UGCGL2		10694380	Standard	NM_020121		Approved	FLJ11485, HUGT2, FLJ10873, MGC150689, MGC87276, MGC117360	uc001vmt.3	Q9NYU1	OTTHUMG00000017230	ENST00000376747.3:c.2358G>C	13.37:g.96555252C>G	ENSP00000365938:p.Glu786Asp						p.E786D	NM_020121.3	NP_064506.3	Q9NYU1	UGGG2_HUMAN			21	2428	-			786					A6NKL4|Q08AD0|Q5JQR8|Q8N5K0|Q9UFC4	Missense_Mutation	SNP	ENST00000376747.3	37	c.2358G>C	CCDS9480.1	.	.	.	.	.	.	.	.	.	.	C	11.10	1.540223	0.27563	.	.	ENSG00000102595	ENST00000376747	T	0.08458	3.09	5.66	-3.31	0.04988	.	0.225320	0.44902	D	0.000404	T	0.06554	0.0168	L	0.51853	1.615	0.80722	D	1	B	0.09022	0.002	B	0.06405	0.002	T	0.34079	-0.9843	10	0.21014	T	0.42	-19.0103	9.1435	0.36919	0.1089:0.3653:0.0:0.5258	.	786	Q9NYU1	UGGG2_HUMAN	D	786	ENSP00000365938:E786D	ENSP00000365938:E786D	E	-	3	2	UGGT2	95353253	0.126000	0.22350	0.946000	0.38457	0.992000	0.81027	-0.784000	0.04633	-0.671000	0.05274	-0.142000	0.14014	GAG		0.333	UGGT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045507.1	NM_020121		7	40	0	0	0	0.001984	0	7	40				
PPAN	56342	broad.mit.edu	37	19	10221422	10221422	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr19:10221422G>A	ENST00000253107.7	+	11	1187	c.1081G>A	c.(1081-1083)Gaa>Aaa	p.E361K	PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.E361K|P2RY11_ENST00000321826.4_5'Flank|PPAN_ENST00000556468.1_Missense_Mutation_p.E361K|PPAN_ENST00000393793.1_Missense_Mutation_p.E308K|PPAN-P2RY11_ENST00000428358.1_Missense_Mutation_p.E361K|SNORD105B_ENST00000458770.1_RNA	NM_020230.5	NP_064615.3	Q9NQ55	SSF1_HUMAN	peter pan homolog (Drosophila)	361					RNA splicing (GO:0008380)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(3)|liver(2)|lung(7)|prostate(1)|skin(1)|urinary_tract(1)	15			OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)			GGGTAGTGATGAAGAGGCCTC	0.602																																						ENST00000428358.1																			0				breast(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|liver(2)|lung(9)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	31						c.(1081-1083)Gaa>Aaa									72.0	79.0	77.0					19																	10221422		2203	4300	6503	SO:0001583	missense	0				RNA splicing	nucleolus	protein binding	g.chr19:10221422G>A	BC033202	CCDS12225.1	19p13.2	2008-02-05	2001-11-28		ENSG00000130810	ENSG00000130810			9227	protein-coding gene	gene with protein product		607793	"""peter pan (Drosophila) homolog"""			10873382	Standard	NM_020230		Approved	SSF1, SSF2, SSF, BXDC3		Q9NQ55	OTTHUMG00000156826	ENST00000253107.7:c.1081G>A	19.37:g.10221422G>A	ENSP00000253107:p.Glu361Lys					PPAN_ENST00000393793.1_Missense_Mutation_p.E308K|PPAN-P2RY11_ENST00000393796.4_Missense_Mutation_p.E361K|PPAN_ENST00000556468.1_Missense_Mutation_p.E361K|PPAN_ENST00000253107.7_Missense_Mutation_p.E361K	p.E361K	NM_001040664.2|NM_001198690.1	NP_001035754.1|NP_001185619.1	Q9NQ55	SSF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(20;2.19e-08)|Epithelial(33;1.76e-05)|all cancers(31;3.54e-05)		11	1253	+			361					C9J3F9|Q9BW97|Q9H170	Missense_Mutation	SNP	ENST00000253107.7	37	c.1081G>A	CCDS12225.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.68|13.68	2.308677|2.308677	0.40895|0.40895	.|.	.|.	ENSG00000243207;ENSG00000243207;ENSG00000130810;ENSG00000130810;ENSG00000130810;ENSG00000130810|ENSG00000130810	ENST00000428358;ENST00000393796;ENST00000253107;ENST00000556468;ENST00000342696;ENST00000393793|ENST00000444703	T;T;T;T;T|.	0.62941|.	1.45;-0.01;1.47;-0.01;1.48|.	4.78|4.78	3.72|3.72	0.42706|0.42706	.|.	.|.	.|.	.|.	.|.	T|T	0.42449|0.42449	0.1203|0.1203	L|L	0.29908|0.29908	0.895|0.895	0.30566|0.30566	N|N	0.764024|0.764024	B;B;B|.	0.29716|.	0.255;0.255;0.255|.	B;B;B|.	0.26614|.	0.071;0.037;0.053|.	T|T	0.41945|0.41945	-0.9480|-0.9480	9|5	0.10636|.	T|.	0.68|.	-7.0665|-7.0665	13.6734|13.6734	0.62438|0.62438	0.0:0.1567:0.8433:0.0|0.0:0.1567:0.8433:0.0	.|.	361;361;361|.	C9J3F9;C9JW41;Q9NQ55|.	.;.;SSF1_HUMAN|.	K|I	361;361;361;361;361;308|120	ENSP00000411918:E361K;ENSP00000377385:E361K;ENSP00000253107:E361K;ENSP00000450710:E361K;ENSP00000377382:E308K|.	ENSP00000253107:E361K|.	E|M	+|+	1|3	0|0	PPAN;PPAN-P2RY11|PPAN	10082422|10082422	0.998000|0.998000	0.40836|0.40836	0.008000|0.008000	0.14137|0.14137	0.001000|0.001000	0.01503|0.01503	5.560000|5.560000	0.67332|0.67332	0.966000|0.966000	0.38159|0.38159	0.561000|0.561000	0.74099|0.74099	GAA|ATG		0.602	PPAN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316658.1	NM_020230		7	91	0	0	0	0.003080	0	7	91				
IFNGR1	3459	broad.mit.edu	37	6	137519644	137519644	+	Missense_Mutation	SNP	G	G	T			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr6:137519644G>T	ENST00000367739.4	-	7	1115	c.994C>A	c.(994-996)Cca>Aca	p.P332T	IFNGR1_ENST00000543628.1_Missense_Mutation_p.P304T	NM_000416.2	NP_000407.1	P15260	INGR1_HUMAN	interferon gamma receptor 1	332					cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to virus (GO:0009615)|signal transduction (GO:0007165)	dendrite (GO:0030425)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|vesicle (GO:0031982)	interferon-gamma receptor activity (GO:0004906)			central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18	Colorectal(23;0.24)			GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	Interferon gamma-1b(DB00033)	TGCATGCCTGGAACTGTTGCT	0.413																																						ENST00000367739.4																			0				central_nervous_system(1)|kidney(3)|large_intestine(3)|lung(9)|skin(1)|upper_aerodigestive_tract(1)	18						c.(994-996)Cca>Aca		interferon gamma receptor 1	Interferon gamma-1b(DB00033)						96.0	89.0	91.0					6																	137519644		2203	4300	6503	SO:0001583	missense	3459				regulation of interferon-gamma-mediated signaling pathway|response to virus	integral to plasma membrane	interferon-gamma receptor activity	g.chr6:137519644G>T		CCDS5185.1	6q23-q24	2014-09-17			ENSG00000027697	ENSG00000027697		"""Interferons"", ""CD molecules"""	5439	protein-coding gene	gene with protein product		107470		IFNGR			Standard	NM_000416		Approved	CD119	uc003qho.2	P15260	OTTHUMG00000015656	ENST00000367739.4:c.994C>A	6.37:g.137519644G>T	ENSP00000356713:p.Pro332Thr					IFNGR1_ENST00000543628.1_Missense_Mutation_p.P304T	p.P332T	NM_000416.2	NP_000407.1	P15260	INGR1_HUMAN		GBM - Glioblastoma multiforme(68;0.000829)|OV - Ovarian serous cystadenocarcinoma(155;0.00389)	7	1115	-	Colorectal(23;0.24)		332					B4DFT7|E1P587|Q53Y96	Missense_Mutation	SNP	ENST00000367739.4	37	c.994C>A	CCDS5185.1	.	.	.	.	.	.	.	.	.	.	G	11.90	1.775555	0.31411	.	.	ENSG00000027697	ENST00000367739;ENST00000543628	T;T	0.72835	-0.69;-0.52	5.06	-4.15	0.03881	.	6.509710	0.00447	N	0.000089	T	0.33990	0.0882	L	0.34521	1.04	0.09310	N	1	P;P	0.45176	0.822;0.852	B;B	0.39217	0.194;0.294	T	0.33574	-0.9863	10	0.29301	T	0.29	0.5931	5.8866	0.18884	0.4116:0.3941:0.1944:0.0	.	304;332	F5H5M7;P15260	.;INGR1_HUMAN	T	332;304	ENSP00000356713:P332T;ENSP00000443282:P304T	ENSP00000356713:P332T	P	-	1	0	IFNGR1	137561337	0.000000	0.05858	0.000000	0.03702	0.074000	0.17049	-0.920000	0.04013	-0.536000	0.06298	-0.140000	0.14226	CCA		0.413	IFNGR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042401.1			22	32	1	0	1.9806e-07	0.014323	2.37259e-07	22	32				
RBPJ	3516	broad.mit.edu	37	4	26432321	26432321	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr4:26432321G>A	ENST00000361572.6	+	11	1389	c.1195G>A	c.(1195-1197)Gag>Aag	p.E399K	RBPJ_ENST00000504907.1_Missense_Mutation_p.R350K|RBPJ_ENST00000342295.1_Missense_Mutation_p.E399K|RBPJ_ENST00000342320.4_Missense_Mutation_p.E385K|RBPJ_ENST00000348160.4_Missense_Mutation_p.E386K|RBPJ_ENST00000355476.3_Missense_Mutation_p.E385K|RBPJ_ENST00000507561.1_Missense_Mutation_p.E364K|RBPJ_ENST00000345843.3_Missense_Mutation_p.E384K			Q06330	SUH_HUMAN	recombination signal binding protein for immunoglobulin kappa J region	399	IPT/TIG.				angiogenesis (GO:0001525)|arterial endothelial cell fate commitment (GO:0060844)|atrioventricular canal development (GO:0036302)|auditory receptor cell fate commitment (GO:0009912)|B cell differentiation (GO:0030183)|blood vessel endothelial cell fate specification (GO:0097101)|blood vessel lumenization (GO:0072554)|blood vessel remodeling (GO:0001974)|cardiac left ventricle morphogenesis (GO:0003214)|Clara cell differentiation (GO:0060486)|defense response to bacterium (GO:0042742)|DNA recombination (GO:0006310)|dorsal aorta morphogenesis (GO:0035912)|endocardium morphogenesis (GO:0003160)|epidermal cell fate specification (GO:0009957)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|gene expression (GO:0010467)|hair follicle maturation (GO:0048820)|humoral immune response (GO:0006959)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|labyrinthine layer blood vessel development (GO:0060716)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ossification (GO:0030279)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|outflow tract morphogenesis (GO:0003151)|pituitary gland development (GO:0021983)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of canonical Wnt signaling pathway involved in cardiac muscle cell fate commitment (GO:1901297)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell proliferation involved in heart morphogenesis (GO:2000138)|positive regulation of ephrin receptor signaling pathway (GO:1901189)|positive regulation of ERBB signaling pathway (GO:1901186)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription of Notch receptor target (GO:0007221)|regulation of timing of cell differentiation (GO:0048505)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|sebaceous gland development (GO:0048733)|secondary heart field specification (GO:0003139)|somatic stem cell maintenance (GO:0035019)|transcription initiation from RNA polymerase II promoter (GO:0006367)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cytoplasm (GO:0005737)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|recombinase activity (GO:0000150)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II repressing transcription factor binding (GO:0001103)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15		Breast(46;0.0503)				CAGGTGTGGAGAGAGTATGCT	0.408																																						ENST00000342320.4																			0				central_nervous_system(2)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)	15						c.(1153-1155)Gag>Aag		recombination signal binding protein for immunoglobulin kappa J region							69.0	69.0	69.0					4																	26432321		2203	4300	6503	SO:0001583	missense	3516				DNA recombination|negative regulation of transcription, DNA-dependent|positive regulation of transcription of Notch receptor target	cytoplasm|nucleolus|nucleoplasm	DNA binding|protein binding|recombinase activity|sequence-specific DNA binding transcription factor activity	g.chr4:26432321G>A	L07872	CCDS3436.1, CCDS3437.1, CCDS33969.1, CCDS43219.1	4p15.2	2013-10-18	2007-02-26	2007-02-26	ENSG00000168214	ENSG00000168214			5724	protein-coding gene	gene with protein product	"""suppressor of hairless homolog (Drosophila)"""	147183	"""recombining binding protein suppressor of hairless (Drosophila)"""	IGKJRB1, RBPSUH		8406481, 9290259	Standard	NM_005349		Approved	SUH, IGKJRB, RBPJK, KBF2, RBP-J, CBF1	uc003gsb.2	Q06330	OTTHUMG00000097793	ENST00000361572.6:c.1195G>A	4.37:g.26432321G>A	ENSP00000354528:p.Glu399Lys					RBPJ_ENST00000361572.6_Missense_Mutation_p.E399K|RBPJ_ENST00000355476.3_Missense_Mutation_p.E385K|RBPJ_ENST00000342295.1_Missense_Mutation_p.E399K|RBPJ_ENST00000345843.3_Missense_Mutation_p.E384K|RBPJ_ENST00000504907.1_Missense_Mutation_p.R350K|RBPJ_ENST00000348160.4_Missense_Mutation_p.E386K|RBPJ_ENST00000507561.1_Missense_Mutation_p.E364K	p.E385K			Q06330	SUH_HUMAN			11	1329	+		Breast(46;0.0503)	399			IPT/TIG.		B4DY22|Q5XKH9|Q6P1N3	Missense_Mutation	SNP	ENST00000361572.6	37	c.1153G>A	CCDS3437.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	29.6|29.6	5.022329|5.022329	0.93462|0.93462	.|.	.|.	ENSG00000168214|ENSG00000168214	ENST00000345843;ENST00000342295;ENST00000361572;ENST00000348160;ENST00000355476;ENST00000507561;ENST00000342320;ENST00000504423|ENST00000504907	T;T;T;T;T;T;T;T|T	0.76316|0.58797	-1.01;-1.01;-1.01;-1.01;-1.01;-1.01;-1.01;-1.01|0.31	5.51|5.51	5.51|5.51	0.81932|0.81932	Cell surface receptor IPT/TIG (1);Immunoglobulin E-set (1);Immunoglobulin-like fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.63861|0.63861	0.2547|0.2547	M|M	0.83692|0.83692	2.655|2.655	0.80722|0.80722	D|D	1|1	D;D;D;D|B	0.71674|0.14438	0.998;0.997;0.997;0.998|0.01	D;D;D;D|B	0.73380|0.13407	0.98;0.966;0.966;0.98|0.009	T|T	0.61217|0.61217	-0.7107|-0.7107	10|8	0.62326|.	D|.	0.03|.	-19.5648|-19.5648	19.3944|19.3944	0.94601|0.94601	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	386;385;384;399|350	B4DY22;Q06330-6;Q06330-4;Q06330|D6R927	.;.;.;SUH_HUMAN|.	K|K	384;399;399;386;385;364;385;85|350	ENSP00000305815:E384K;ENSP00000345206:E399K;ENSP00000354528:E399K;ENSP00000339699:E386K;ENSP00000347659:E385K;ENSP00000423907:E364K;ENSP00000340124:E385K;ENSP00000421804:E85K|ENSP00000423703:R350K	ENSP00000345206:E399K|.	E|R	+|+	1|2	0|0	RBPJ|RBPJ	26041419|26041419	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.955000|0.955000	0.61496|0.61496	9.132000|9.132000	0.94455|0.94455	2.598000|2.598000	0.87819|0.87819	0.655000|0.655000	0.94253|0.94253	GAG|AGA		0.408	RBPJ-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000215046.2	NM_015874		5	56	0	0	0	0.001168	0	5	56				
NISCH	11188	broad.mit.edu	37	3	52526412	52526412	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr3:52526412G>A	ENST00000479054.1	+	22	4501	c.4429G>A	c.(4429-4431)Gag>Aag	p.E1477K	NISCH_ENST00000345716.4_Missense_Mutation_p.E1477K|STAB1_ENST00000321725.6_5'Flank			Q9Y2I1	NISCH_HUMAN	nischarin	1477					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|glucose metabolic process (GO:0006006)|negative regulation of cell migration (GO:0030336)|norepinephrine secretion (GO:0048243)|Rac protein signal transduction (GO:0016601)|regulation of blood pressure (GO:0008217)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled amine receptor activity (GO:0008227)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	Tizanidine(DB00697)	CCCCAGTGCTGAGAGCAGAGA	0.662																																						ENST00000345716.4																			0				NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33						c.(4429-4431)Gag>Aag		nischarin							70.0	79.0	76.0					3																	52526412		2203	4300	6503	SO:0001583	missense	11188				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity	g.chr3:52526412G>A	AF082516	CCDS33767.1, CCDS63651.1, CCDS63652.1	3p21.1	2008-07-18			ENSG00000010322	ENSG00000010322			18006	protein-coding gene	gene with protein product	"""imidazoline receptor candidate"", ""I-1 receptor candidate protein"", ""imidazoline receptor antisera selected"""	615507				11912194, 10882231	Standard	NM_007184		Approved	KIAA0975, I-1, IRAS	uc003ded.4	Q9Y2I1	OTTHUMG00000158571	ENST00000479054.1:c.4429G>A	3.37:g.52526412G>A	ENSP00000418232:p.Glu1477Lys					NISCH_ENST00000479054.1_Missense_Mutation_p.E1477K	p.E1477K	NM_007184.3	NP_009115.2	Q9Y2I1	NISCH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	21	4563	+			1477					C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Missense_Mutation	SNP	ENST00000479054.1	37	c.4429G>A	CCDS33767.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.715027	0.89112	.	.	ENSG00000010322	ENST00000479054;ENST00000345716;ENST00000433196;ENST00000414197	T;T	0.10005	2.92;2.92	5.37	5.37	0.77165	.	0.193305	0.44285	D	0.000471	T	0.13372	0.0324	N	0.24115	0.695	0.37148	D	0.902043	D	0.57257	0.979	P	0.47528	0.549	T	0.04017	-1.0984	10	0.72032	D	0.01	-26.6194	19.116	0.93340	0.0:0.0:1.0:0.0	.	1477	Q9Y2I1	NISCH_HUMAN	K	1477;1477;401;791	ENSP00000418232:E1477K;ENSP00000339958:E1477K	ENSP00000339958:E1477K	E	+	1	0	NISCH	52501452	1.000000	0.71417	0.966000	0.40874	0.947000	0.59692	7.073000	0.76784	2.535000	0.85469	0.561000	0.74099	GAG		0.662	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351357.1	NM_007184		39	105	0	0	0	0.004289	0	39	105				
BMS1P20	96610	broad.mit.edu	37	22	22661208	22661208	+	RNA	SNP	C	C	T			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr22:22661208C>T	ENST00000426066.1	+	0	300					NR_027293.1				BMS1 pseudogene 20																		CTGAATCATGCAGAATTTGAA	0.408																																						ENST00000426066.1																			0																																																			0							g.chr22:22661208C>T			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22661208C>T								NR_027293.1						0	300	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.408	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			3	29	0	0	0	0.004672	0	3	29				
ZNF512	84450	broad.mit.edu	37	2	27822493	27822493	+	Silent	SNP	G	G	A	rs370685691		TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr2:27822493G>A	ENST00000355467.4	+	4	404	c.321G>A	c.(319-321)caG>caA	p.Q107Q	ZNF512_ENST00000556601.1_Missense_Mutation_p.R18K|ZNF512_ENST00000494548.1_3'UTR|ZNF512_ENST00000416005.2_Silent_p.Q106Q|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000379717.1_Silent_p.Q106Q|ZNF512_ENST00000413371.2_Silent_p.Q30Q	NM_001271287.1|NM_001271288.1|NM_001271289.1|NM_001271318.1|NM_032434.3	NP_001258216.1|NP_001258217.1|NP_001258218.1|NP_001258247.1|NP_115810.2	Q96ME7	ZN512_HUMAN	zinc finger protein 512	107					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)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	Acute lymphoblastic leukemia(172;0.155)					AACCCAGGCAGGAAGAAGATG	0.408																																						ENST00000556601.1																			0				breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(3)|lung(10)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(52-54)aGg>aAg		zinc finger protein 512							128.0	127.0	128.0					2																	27822493		2203	4300	6503	SO:0001819	synonymous_variant	84450				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr2:27822493G>A	AL833748	CCDS1758.1, CCDS59428.1, CCDS59429.1	2p23	2008-02-05			ENSG00000243943	ENSG00000243943		"""Zinc fingers, C2H2-type"""	29380	protein-coding gene	gene with protein product						11347906	Standard	NM_032434		Approved	KIAA1805	uc002rla.4	Q96ME7	OTTHUMG00000097786	ENST00000355467.4:c.321G>A	2.37:g.27822493G>A						ZNF512_ENST00000494548.1_3'UTR|RP11-158I13.2_ENST00000505973.1_RNA|ZNF512_ENST00000413371.2_Silent_p.Q30Q|ZNF512_ENST00000416005.2_Silent_p.Q106Q|ZNF512_ENST00000379717.1_Silent_p.Q106Q|ZNF512_ENST00000355467.4_Silent_p.Q107Q	p.R18K			Q96ME7	ZN512_HUMAN			3	329	+	Acute lymphoblastic leukemia(172;0.155)		0					B4DSM5|Q53RZ7|Q86XK6|Q96JM0	Missense_Mutation	SNP	ENST00000355467.4	37	c.53G>A	CCDS1758.1	.	.	.	.	.	.	.	.	.	.	G	17.53	3.411903	0.62511	.	.	ENSG00000243943	ENST00000556601	.	.	.	5.33	3.51	0.40186	.	.	.	.	.	T	0.32704	0.0838	.	.	.	0.19945	N	0.999946	.	.	.	.	.	.	T	0.19712	-1.0297	4	.	.	.	-10.1483	6.1544	0.20330	0.1536:0.1571:0.6894:0.0	.	.	.	.	K	18	.	.	R	+	2	0	ZNF512	27675997	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.491000	0.22419	0.801000	0.34066	0.655000	0.94253	AGG		0.408	ZNF512-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000215029.2	NM_032434		4	49	0	0	0	0.009096	0	4	49				
FLG2	388698	broad.mit.edu	37	1	152325779	152325779	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr1:152325779C>T	ENST00000388718.5	-	3	4555	c.4483G>A	c.(4483-4485)Gga>Aga	p.G1495R	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1495					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			CCCCTTCTTCCAGTTGTACTG	0.522																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(4483-4485)Gga>Aga		filaggrin family member 2							339.0	328.0	332.0					1																	152325779		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152325779C>T	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.4483G>A	1.37:g.152325779C>T	ENSP00000373370:p.Gly1495Arg					FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	p.G1495R	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4555	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1495					Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.4483G>A	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	c	4.901	0.167426	0.09339	.	.	ENSG00000143520	ENST00000388718	T	0.01767	4.65	2.93	-3.95	0.04118	.	.	.	.	.	T	0.00552	0.0018	M	0.72118	2.19	0.09310	N	1	B	0.12630	0.006	B	0.09377	0.004	T	0.48175	-0.9058	9	0.17369	T	0.5	0.0188	0.7405	0.00973	0.1529:0.2764:0.2083:0.3624	.	1495	Q5D862	FILA2_HUMAN	R	1495	ENSP00000373370:G1495R	ENSP00000373370:G1495R	G	-	1	0	FLG2	150592403	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	-2.559000	0.00922	-0.759000	0.04684	0.297000	0.19635	GGA		0.522	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		10	414	0	0	0	0.010729	0	10	414				
BRAF	673	broad.mit.edu	37	7	140453136	140453136	+	Missense_Mutation	SNP	A	A	T	rs121913377|rs113488022|rs121913227|rs397516897		TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr7:140453136A>T	ENST00000288602.6	-	15	1859	c.1799T>A	c.(1798-1800)gTg>gAg	p.V600E		NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN	B-Raf proto-oncogene, serine/threonine kinase	600	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions). {ECO:0000269|PubMed:12068308}.|V -> E (in CRC; also found in sarcoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis; loss of regulation by PMRT5). {ECO:0000269|PubMed:12068308, ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:16959974, ECO:0000269|PubMed:17344846, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}.		activation of MAPKK activity (GO:0000186)|CD4-positive, alpha-beta T cell differentiation (GO:0043367)|cellular response to calcium ion (GO:0071277)|cellular response to drug (GO:0035690)|fibroblast growth factor receptor signaling pathway (GO:0008543)|long-term synaptic potentiation (GO:0060291)|myeloid progenitor cell differentiation (GO:0002318)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endothelial cell apoptotic process (GO:2000352)|negative regulation of fibroblast migration (GO:0010764)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic vesicle exocytosis (GO:2000301)|neurotrophin TRK receptor signaling pathway (GO:0048011)|organ morphogenesis (GO:0009887)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of gene expression (GO:0010628)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|positive T cell selection (GO:0043368)|protein heterooligomerization (GO:0051291)|protein phosphorylation (GO:0006468)|regulation of cell proliferation (GO:0042127)|response to cAMP (GO:0051591)|response to epidermal growth factor (GO:0070849)|response to peptide hormone (GO:0043434)|small GTPase mediated signal transduction (GO:0007264)|somatic stem cell maintenance (GO:0035019)|synaptic transmission (GO:0007268)|visual learning (GO:0008542)	cell body (GO:0044297)|cytosol (GO:0005829)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|identical protein binding (GO:0042802)|MAP kinase kinase kinase activity (GO:0004709)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380	Melanoma(164;0.00956)				Dabrafenib(DB08912)|Regorafenib(DB08896)|Sorafenib(DB00398)|Vemurafenib(DB08881)	TCGAGATTTCACTGTAGCTAG	0.368	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61	"""Mis, T, O"""	"""AKAP9, KIAA1549"""	"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""		Cardio-facio-cutaneous syndrome		Cardiofaciocutaneous syndrome																												Colon(40;35 892 2973 5743 27438)	ENST00000288602.6	V600D(K029AX_SKIN)|V600D(WM115_SKIN)|V600D(WM2664_SKIN)|V600E(8505C_THYROID)|V600E(A101D_SKIN)|V600E(A2058_SKIN)|V600E(A375_SKIN)|V600E(A673_BONE)|V600E(AM38_CENTRAL_NERVOUS_SYSTEM)|V600E(BCPAP_THYROID)|V600E(BHT101_THYROID)|V600E(BT474_BREAST)|V600E(C32_SKIN)|V600E(CL34_LARGE_INTESTINE)|V600E(COLO205_LARGE_INTESTINE)|V600E(COLO679_SKIN)|V600E(COLO741_SKIN)|V600E(COLO783_SKIN)|V600E(COLO800_SKIN)|V600E(COLO818_SKIN)|V600E(COLO829_SKIN)|V600E(COLO849_SKIN)|V600E(DBTRG05MG_CENTRAL_NERVOUS_SYSTEM)|V600E(DU4475_BREAST)|V600E(ES2_OVARY)|V600E(G361_SKIN)|V600E(GCT_SOFT_TISSUE)|V600E(HS294T_SKIN)|V600E(HS695T_SKIN)|V600E(HS939T_SKIN)|V600E(IGR1_SKIN)|V600E(IGR37_SKIN)|V600E(IGR39_SKIN)|V600E(K029AX_SKIN)|V600E(KG1C_CENTRAL_NERVOUS_SYSTEM)|V600E(LOXIMVI_SKIN)|V600E(MALME3M_SKIN)|V600E(MELHO_SKIN)|V600E(OUMS23_LARGE_INTESTINE)|V600E(RKO_LARGE_INTESTINE)|V600E(RPMI7951_SKIN)|V600E(RVH421_SKIN)|V600E(SH4_SKIN)|V600E(SIGM5_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|V600E(SKHEP1_LIVER)|V600E(SKMEL24_SKIN)|V600E(SKMEL28_SKIN)|V600E(SKMEL5_SKIN)|V600E(SW1417_LARGE_INTESTINE)|V600E(UACC257_SKIN)|V600E(UACC62_SKIN)|V600E(WM793_SKIN)|V600E(WM88_SKIN)|V600E(WM983B_SKIN)	61		Dom	yes		7	7q34	673	"""Mis, T, O"""	v-raf murine sarcoma viral oncogene homolog B1	yes	Cardio-facio-cutaneous syndrome	E	"""AKAP9, KIAA1549"""		"""melanoma, colorectal, papillary thyroid, borderline ov, Non small-cell lung cancer (NSCLC), cholangiocarcinoma, pilocytic astrocytoma"""	SLC45A3/BRAF(2)|AGTRAP/BRAF(2)|FAM131B_ENST00000443739/BRAF(7)|AKAP9_ENST00000356239/BRAF(10)|KIAA1549/BRAF(703)|FCHSD1/BRAF(2)	15808	Substitution - Missense(15790)|Complex - deletion inframe(17)|Insertion - In frame(1)	p.V600E(15453)|p.V600K(252)|p.V600R(44)|p.V600D(16)|p.V600A(12)|p.V600_K601>E(12)|p.V600G(11)|p.T599_R603>I(2)|p.V600Q(2)|p.V600_S605>EK(1)|p.V600_S605>DV(1)|p.V600_S605>D(1)|p.T599_V600insDFGLAT(1)	thyroid(7476)|skin(3822)|large_intestine(3288)|NS(360)|haematopoietic_and_lymphoid_tissue(336)|ovary(211)|lung(58)|eye(57)|central_nervous_system(53)|soft_tissue(30)|biliary_tract(18)|liver(17)|prostate(13)|breast(10)|upper_aerodigestive_tract(9)|endometrium(8)|pancreas(8)|testis(7)|small_intestine(7)|genital_tract(4)|stomach(4)|bone(3)|autonomic_ganglia(2)|oesophagus(2)|urinary_tract(2)|adrenal_gland(2)|pituitary(1)	NS(588)|adrenal_gland(3)|autonomic_ganglia(3)|biliary_tract(29)|bone(7)|breast(21)|central_nervous_system(99)|cervix(6)|endometrium(33)|eye(72)|gastrointestinal_tract_(site_indeterminate)(2)|genital_tract(4)|haematopoietic_and_lymphoid_tissue(436)|kidney(3)|large_intestine(6953)|liver(17)|lung(192)|oesophagus(4)|ovary(275)|pancreas(15)|pituitary(1)|prostate(25)|salivary_gland(1)|skin(6285)|small_intestine(12)|soft_tissue(40)|stomach(11)|testis(7)|thyroid(12220)|upper_aerodigestive_tract(13)|urinary_tract(3)	27380						c.(1798-1800)gTg>gAg		v-raf murine sarcoma viral oncogene homolog B	Sorafenib(DB00398)						112.0	104.0	107.0					7																	140453136		2203	4300	6503	SO:0001583	missense	673	Cardiofaciocutaneous syndrome	Familial Cancer Database	CFC, CFCS	activation of MAPKK activity|anti-apoptosis|nerve growth factor receptor signaling pathway|organ morphogenesis|positive regulation of peptidyl-serine phosphorylation|small GTPase mediated signal transduction|synaptic transmission	cytosol|nucleus|plasma membrane	ATP binding|metal ion binding	g.chr7:140453136A>T	M95712	CCDS5863.1	7q34	2014-09-17	2014-06-26		ENSG00000157764	ENSG00000157764			1097	protein-coding gene	gene with protein product		164757	"""v-raf murine sarcoma viral oncogene homolog B"""			2284096, 1565476	Standard	NM_004333		Approved	BRAF1	uc003vwc.4	P15056	OTTHUMG00000157457	ENST00000288602.6:c.1799T>A	7.37:g.140453136A>T	ENSP00000288602:p.Val600Glu						p.V600E	NM_004333.4	NP_004324.2	P15056	BRAF_HUMAN			15	1859	-	Melanoma(164;0.00956)		600		V -> D (in a melanoma cell line; requires 2 nucleotide substitutions).|V -> E (in sarcoma, colorectal adenocarcinoma, metastatic melanoma, ovarian serous carcinoma, pilocytic astrocytoma; somatic mutation; most common mutation; constitutive and elevated kinase activity; efficiently induces cell transformation; suppression of mutation in melanoma causes growth arrest and promotes apoptosis).	Protein kinase.		A4D1T4|B6HY61|B6HY62|B6HY63|B6HY64|B6HY65|B6HY66|Q13878|Q3MIN6|Q9UDP8|Q9Y6T3	Missense_Mutation	SNP	ENST00000288602.6	37	c.1799T>A	CCDS5863.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	24.0|24.0	4.486113|4.486113	0.84854|0.84854	.|.	.|.	ENSG00000157764|ENSG00000157764	ENST00000288602|ENST00000496384	D|.	0.81739|.	-1.53|.	5.65|5.65	5.65|5.65	0.86999|0.86999	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|.	0.61565|.	0.2357|.	L|L	0.42245|0.42245	1.32|1.32	0.80722|0.80722	D|D	1|1	D|.	0.55385|.	0.971|.	D|.	0.66351|.	0.943|.	T|.	0.58160|.	-0.7685|.	10|.	0.87932|.	D|.	0|.	.|.	15.9326|15.9326	0.79675|0.79675	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	600|.	P15056|.	BRAF_HUMAN|.	E|R	600|208	ENSP00000288602:V600E|.	ENSP00000288602:V600E|.	V|X	-|-	2|1	0|0	BRAF|BRAF	140099605|140099605	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	9.197000|9.197000	0.94985|0.94985	2.169000|2.169000	0.68431|0.68431	0.529000|0.529000	0.55759|0.55759	GTG|TGA		0.368	BRAF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348886.1	NM_004333		25	28	0	0	0	0.002780	0	25	28				
DOCK11	139818	broad.mit.edu	37	X	117819739	117819739	+	Missense_Mutation	SNP	G	G	A	rs376064945		TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chrX:117819739G>A	ENST00000276202.7	+	53	6254	c.6191G>A	c.(6190-6192)gGt>gAt	p.G2064D	DOCK11_ENST00000276204.6_Missense_Mutation_p.G2068D	NM_144658.3	NP_653259.3	Q5JSL3	DOC11_HUMAN	dedicator of cytokinesis 11	2064					blood coagulation (GO:0007596)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						AGTGACCGAGGTTATGGTTCC	0.403																																						ENST00000276204.6																			0				breast(4)|cervix(2)|endometrium(8)|kidney(5)|large_intestine(17)|liver(1)|lung(35)|ovary(4)|prostate(3)|skin(3)|stomach(1)|urinary_tract(1)	84						c.(6202-6204)gGt>gAt		dedicator of cytokinesis 11		G	ASP/GLY	1,3834		0,0,1,1632,570	210.0	176.0	187.0		6191	6.2	1.0	X		187	0,6728		0,0,0,2428,1872	no	missense	DOCK11	NM_144658.3	94	0,0,1,4060,2442	AA,AG,A,GG,G		0.0,0.0261,0.0095	benign	2064/2074	117819739	1,10562	2203	4300	6503	SO:0001583	missense	139818				blood coagulation	cytosol	GTP binding	g.chrX:117819739G>A	AK125641	CCDS35373.1	Xq24	2013-10-25			ENSG00000147251	ENSG00000147251		"""Pleckstrin homology (PH) domain containing"""	23483	protein-coding gene	gene with protein product	"""zizimin2"""	300681				12432077, 16968698	Standard	NM_144658		Approved	FLJ32122, FLJ43653, ZIZ2, ACG	uc004eqp.2	Q5JSL3	OTTHUMG00000022256	ENST00000276202.7:c.6191G>A	X.37:g.117819739G>A	ENSP00000276202:p.Gly2064Asp					DOCK11_ENST00000276202.7_Missense_Mutation_p.G2064D	p.G2068D			Q5JSL3	DOC11_HUMAN			53	6277	+			2064					A6NMF0|Q66M66|Q6ZUJ5|Q86VU8|Q96MN3	Missense_Mutation	SNP	ENST00000276202.7	37	c.6203G>A	CCDS35373.1	.	.	.	.	.	.	.	.	.	.	G	14.71	2.617684	0.46736	2.61E-4	0.0	ENSG00000147251	ENST00000276204;ENST00000276202	T;T	0.17370	2.28;2.28	6.17	6.17	0.99709	.	0.319538	0.31495	N	0.007553	T	0.12860	0.0312	L	0.36672	1.1	0.32589	N	0.527445	B;B	0.31125	0.309;0.309	B;B	0.22386	0.026;0.039	T	0.14896	-1.0456	10	0.15499	T	0.54	-21.7584	13.5363	0.61648	0.0:0.0:0.8448:0.1552	.	2068;2064	A6NIW2;Q5JSL3	.;DOC11_HUMAN	D	2068;2064	ENSP00000276204:G2068D;ENSP00000276202:G2064D	ENSP00000276202:G2064D	G	+	2	0	DOCK11	117703767	1.000000	0.71417	0.999000	0.59377	0.971000	0.66376	4.726000	0.61986	2.618000	0.88619	0.600000	0.82982	GGT		0.403	DOCK11-003	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000356002.1	NM_144658		71	89	0	0	0	0.014410	0	71	89				
ZNRD1-AS1	80862	broad.mit.edu	37	6	29977342	29977342	+	RNA	SNP	A	A	T	rs113017032	byFrequency	TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr6:29977342A>T	ENST00000376797.3	-	0	731				HLA-J_ENST00000462773.1_RNA|ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|ZNRD1-AS1_ENST00000444051.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA			Q2KJ03	ZRAS1_HUMAN	ZNRD1 antisense RNA 1																		TGGGACTGAGAGGCAAGATTT	0.438													A|||	16	0.00319489	0.003	0.0029	5008	,	,		21762	0.0		0.003	False		,,,				2504	0.0072					ENST00000376797.3																			0																																																			0							g.chr6:29977342A>T	AF032110		6p21.33	2014-08-14	2012-08-15	2010-11-25	ENSG00000204623	ENSG00000204623		"""Long non-coding RNAs"""	13924	non-coding RNA	RNA, long non-coding		615714	"""chromosome 6 open reading frame 12"", ""non-protein coding RNA 171"", ""ZNRD1 antisense RNA (non-protein coding)"", ""ZNRD1 antisense RNA 1 (non-protein coding)"""	C6orf12, NCRNA00171, ZNRD1AS, ZNRD1-AS		9553157, 11130983, 25110835	Standard	NR_026751		Approved	HTEX4, Em:AB023056.3	uc003rto.3	Q2KJ03	OTTHUMG00000031109		6.37:g.29977342A>T						ZNRD1-AS1_ENST00000448093.1_RNA|ZNRD1-AS1_ENST00000425604.1_RNA|ZNRD1-AS1_ENST00000420251.1_RNA|HLA-J_ENST00000462773.1_RNA								0	731	-									RNA	SNP	ENST00000376797.3	37																																																																																						0.438	ZNRD1-AS1-006	KNOWN	basic|exp_conf	antisense	antisense	OTTHUMT00000253083.1	NR_026751		4	74	0	0	0	0.000602	0	4	74				
NCKIPSD	51517	broad.mit.edu	37	3	48716069	48716069	+	Missense_Mutation	SNP	G	G	C			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr3:48716069G>C	ENST00000294129.2	-	12	2012	c.1893C>G	c.(1891-1893)ttC>ttG	p.F631L	NCKIPSD_ENST00000341520.4_Missense_Mutation_p.F631L|NCKIPSD_ENST00000416649.2_Missense_Mutation_p.F624L	NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN	NCK interacting protein with SH3 domain	631					cytoskeleton organization (GO:0007010)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|NLS-bearing protein import into nucleus (GO:0006607)|signal transduction (GO:0007165)	cytosol (GO:0005829)|intermediate filament (GO:0005882)|nucleus (GO:0005634)	cytoskeletal protein binding (GO:0008092)			endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11				BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)		CTGTGTGGTAGAAGATGGCAG	0.582																																						ENST00000294129.2																			0				endometrium(1)|large_intestine(3)|lung(6)|prostate(1)	11						c.(1891-1893)ttC>ttG		NCK interacting protein with SH3 domain							130.0	121.0	124.0					3																	48716069		2203	4300	6503	SO:0001583	missense	51517				cytoskeleton organization|NLS-bearing substrate import into nucleus|signal transduction	intermediate filament|nucleus	cytoskeletal protein binding|SH3 domain binding	g.chr3:48716069G>C	AF178432	CCDS2776.1, CCDS46827.1	3p21	2008-07-18			ENSG00000213672	ENSG00000213672			15486	protein-coding gene	gene with protein product	"""dia interacting protein"", ""diaphanous protein interacting protein"", ""SH3 protein interacting with Nck, 90 kDa"""	606671				10648423, 10619843	Standard	NM_016453		Approved	AF3P21, SPIN90, ORF1, WISH, WASLBP, DIP1	uc003cun.3	Q9NZQ3	OTTHUMG00000133542	ENST00000294129.2:c.1893C>G	3.37:g.48716069G>C	ENSP00000294129:p.Phe631Leu					NCKIPSD_ENST00000341520.4_Missense_Mutation_p.F631L|NCKIPSD_ENST00000416649.2_Missense_Mutation_p.F624L	p.F631L	NM_016453.2	NP_057537.1	Q9NZQ3	SPN90_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000292)|KIRC - Kidney renal clear cell carcinoma(197;0.00549)|Kidney(197;0.00619)	12	2012	-			631					B4DFL5|Q6GU34|Q6SPF3|Q8TC10|Q9UGM8	Missense_Mutation	SNP	ENST00000294129.2	37	c.1893C>G	CCDS2776.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.182445	0.78677	.	.	ENSG00000213672	ENST00000341520;ENST00000416649;ENST00000294129;ENST00000413374	T;T;T;T	0.55052	0.54;0.54;0.54;0.54	5.37	4.3	0.51218	Domain of unknown function DUF2013 (1);	0.000000	0.85682	U	0.000000	T	0.72882	0.3516	M	0.86097	2.795	0.54753	D	0.999987	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.996	T	0.76769	-0.2837	10	0.72032	D	0.01	.	11.4808	0.50324	0.1557:0.0:0.8443:0.0	.	631;624	Q9NZQ3;Q9NZQ3-3	SPN90_HUMAN;.	L	631;624;631;87	ENSP00000342621:F631L;ENSP00000389059:F624L;ENSP00000294129:F631L;ENSP00000396683:F87L	ENSP00000294129:F631L	F	-	3	2	NCKIPSD	48691073	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.401000	0.73256	2.499000	0.84300	0.563000	0.77884	TTC		0.582	NCKIPSD-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000257520.1	NM_016453		12	58	0	0	0	0.013537	0	12	58				
LONRF1	91694	broad.mit.edu	37	8	12594452	12594452	+	Silent	SNP	C	C	G			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr8:12594452C>G	ENST00000398246.3	-	5	1380	c.1311G>C	c.(1309-1311)gtG>gtC	p.V437V	LONRF1_ENST00000530693.1_5'Flank|LONRF1_ENST00000533751.1_Silent_p.V80V	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN	LON peptidase N-terminal domain and ring finger 1	437							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19				READ - Rectum adenocarcinoma(644;0.236)		CATTTACAATCACATCCTGTT	0.318																																						ENST00000398246.3																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(4)|ovary(1)|upper_aerodigestive_tract(2)	19						c.(1309-1311)gtG>gtC		LON peptidase N-terminal domain and ring finger 1							73.0	63.0	66.0					8																	12594452		1811	4076	5887	SO:0001819	synonymous_variant	91694				proteolysis		ATP-dependent peptidase activity|zinc ion binding	g.chr8:12594452C>G	AK074329	CCDS5987.2	8p23.1	2013-01-09			ENSG00000154359	ENSG00000154359		"""RING-type (C3HC4) zinc fingers"""	26302	protein-coding gene	gene with protein product						18253036	Standard	XM_005273685		Approved	FLJ23749, RNF191	uc003wwd.1	Q17RB8	OTTHUMG00000165475	ENST00000398246.3:c.1311G>C	8.37:g.12594452C>G						LONRF1_ENST00000533751.1_Silent_p.V80V	p.V437V	NM_152271.3	NP_689484.3	Q17RB8	LONF1_HUMAN		READ - Rectum adenocarcinoma(644;0.236)	5	1380	-			437					B4DM29|B4DU84|Q8TEA0|Q9BSV1	Silent	SNP	ENST00000398246.3	37	c.1311G>C	CCDS5987.2																																																																																				0.318	LONRF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251693.2	NM_152271		12	26	0	0	0	0.010729	0	12	26				
PLCXD1	55344	broad.mit.edu	37	X	209756	209756	+	Missense_Mutation	SNP	T	T	C			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chrX:209756T>C	ENST00000381657.2	+	6	1118	c.604T>C	c.(604-606)Tat>Cat	p.Y202H	PLCXD1_ENST00000399012.1_Missense_Mutation_p.Y202H|PLCXD1_ENST00000381663.3_Missense_Mutation_p.Y202H	NM_018390.3	NP_060860.1	Q9NUJ7	PLCX1_HUMAN	phosphatidylinositol-specific phospholipase C, X domain containing 1	202	PI-PLC X-box. {ECO:0000255|PROSITE- ProRule:PRU00270}.				lipid metabolic process (GO:0006629)		phosphoric diester hydrolase activity (GO:0008081)			endometrium(3)|large_intestine(1)|lung(7)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CATCGTCTCCTATGAAGACGA	0.632																																						ENST00000381657.2																			0				endometrium(3)|large_intestine(1)|lung(7)	11						c.(604-606)Tat>Cat		phosphatidylinositol-specific phospholipase C, X domain containing 1							75.0	72.0	73.0					X																	209756		2203	4296	6499	SO:0001583	missense	55344				intracellular signal transduction|lipid metabolic process		phospholipase C activity	g.chrX:209756T>C	AK002185	CCDS14103.1	Xp22.33 and Yp11.32	2010-07-28			ENSG00000182378	ENSG00000182378		"""Pseudoautosomal regions / PAR1"""	23148	protein-coding gene	gene with protein product							Standard	NM_018390		Approved	FLJ11323	uc004cpc.3	Q9NUJ7	OTTHUMG00000022693	ENST00000381657.2:c.604T>C	X.37:g.209756T>C	ENSP00000371073:p.Tyr202His					PLCXD1_ENST00000399012.1_Missense_Mutation_p.Y202H|PLCXD1_ENST00000381663.3_Missense_Mutation_p.Y202H	p.Y202H	NM_018390.3	NP_060860.1	Q9NUJ7	PLCX1_HUMAN			6	1118	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	202			PI-PLC X-box.		A2BH51|A2BH52	Missense_Mutation	SNP	ENST00000381657.2	37	c.604T>C	CCDS14103.1	.	.	.	.	.	.	.	.	.	.	.	10.61	1.398934	0.25291	.	.	ENSG00000182378	ENST00000399012;ENST00000381657;ENST00000381663	T;T;T	0.28895	1.59;1.59;1.59	1.26	1.26	0.21427	PLC-like phosphodiesterase, TIM beta/alpha-barrel domain (2);	0.000000	0.85682	D	0.000000	T	0.44603	0.1301	.	.	.	0.09310	N	1	D	0.89917	1.0	D	0.97110	1.0	T	0.12319	-1.0552	9	0.42905	T	0.14	-31.0036	6.2892	0.21051	0.0:0.0:0.0:1.0	.	202	Q9NUJ7	PLCX1_HUMAN	H	202	ENSP00000381976:Y202H;ENSP00000371073:Y202H;ENSP00000371079:Y202H	ENSP00000371073:Y202H	Y	+	1	0	PLCXD1	149756	1.000000	0.71417	0.053000	0.19242	0.082000	0.17680	4.741000	0.62095	0.552000	0.29026	0.320000	0.21374	TAT		0.632	PLCXD1-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058879.2	NM_018390		3	49	0	0	0	0.004672	0	3	49				
NFATC2	4773	broad.mit.edu	37	20	50071158	50071158	+	Silent	SNP	G	G	A	rs146686251	byFrequency	TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr20:50071158G>A	ENST00000396009.3	-	6	1995	c.1776C>T	c.(1774-1776)ggC>ggT	p.G592G	NFATC2_ENST00000414705.1_Silent_p.G572G|NFATC2_ENST00000371564.3_Silent_p.G592G|MIR3194_ENST00000582236.1_RNA|NFATC2_ENST00000609943.1_Silent_p.G572G|NFATC2_ENST00000610033.1_Silent_p.G373G|NFATC2_ENST00000609507.1_Silent_p.G373G	NM_001258297.1|NM_173091.3	NP_001245226.1|NP_775114.1	Q13469	NFAC2_HUMAN	nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2	592					B cell receptor signaling pathway (GO:0050853)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|cytokine production (GO:0001816)|Fc-epsilon receptor signaling pathway (GO:0038095)|innate immune response (GO:0045087)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|response to drug (GO:0042493)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear transcription factor complex (GO:0044798)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ribonucleoprotein complex (GO:0030529)	DNA binding (GO:0003677)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.G592G(1)	EWSR1/NFATC2(9)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53	Hepatocellular(150;0.248)					TTTGCTGGCCGCCATAGACCA	0.502													G|||	3	0.000599042	0.0008	0.0014	5008	,	,		19640	0.0		0.001	False		,,,				2504	0.0					ENST00000371564.3																		EWSR1/NFATC2(9)	1	Substitution - coding silent(1)	p.G592G(1)	prostate(1)	breast(2)|endometrium(7)|kidney(1)|large_intestine(7)|lung(25)|ovary(2)|prostate(2)|skin(5)|stomach(1)|urinary_tract(1)	53						c.(1774-1776)ggC>ggT		nuclear factor of activated T-cells, cytoplasmic, calcineurin-dependent 2							168.0	169.0	169.0					20																	50071158		2203	4300	6503	SO:0001819	synonymous_variant	4773				B cell receptor signaling pathway|positive regulation of B cell proliferation|response to DNA damage stimulus|response to drug	actin cytoskeleton|nucleus|plasma membrane	protein binding|sequence-specific DNA binding transcription factor activity	g.chr20:50071158G>A	U43342, U43341	CCDS13437.1, CCDS33488.1, CCDS46614.1, CCDS68156.1, CCDS68157.1	20q13.2	2009-11-24			ENSG00000101096	ENSG00000101096		"""Nuclear factor of activated T-cells"""	7776	protein-coding gene	gene with protein product		600490				8202141	Standard	NM_012340		Approved	NF-ATP, NFATp, NFAT1	uc002xwd.4	Q13469	OTTHUMG00000032747	ENST00000396009.3:c.1776C>T	20.37:g.50071158G>A						NFATC2_ENST00000414705.1_Silent_p.G572G|NFATC2_ENST00000396009.3_Silent_p.G592G	p.G592G	NM_001258296.1|NM_012340.4	NP_001245225.1|NP_036472.2	Q13469	NFAC2_HUMAN			6	1995	-	Hepatocellular(150;0.248)		592					B5B2N8|B5B2N9|B5B2P0|B5B2P2|B5B2P3|Q13468|Q5TFW7|Q5TFW8|Q9NPX6|Q9NQH3|Q9UJR2	Silent	SNP	ENST00000396009.3	37	c.1776C>T	CCDS13437.1																																																																																				0.502	NFATC2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000079730.2	NM_012340		5	171	0	0	0	0.001168	0	5	171				
PNOC	5368	broad.mit.edu	37	8	28196729	28196729	+	Missense_Mutation	SNP	G	G	A	rs533728896	byFrequency	TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr8:28196729G>A	ENST00000301908.3	+	3	507	c.299G>A	c.(298-300)cGa>cAa	p.R100Q	RP11-380I10.4_ENST00000521731.1_RNA|PNOC_ENST00000522209.1_Missense_Mutation_p.R36Q	NM_006228.3	NP_006219.1	Q13519	PNOC_HUMAN	prepronociceptin	100					neuropeptide signaling pathway (GO:0007218)|sensory perception (GO:0007600)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)	extracellular region (GO:0005576)	neuropeptide hormone activity (GO:0005184)	p.R100E(1)|p.R100Q(1)		central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5		Ovarian(32;0.000953)		KIRC - Kidney renal clear cell carcinoma(542;0.104)|Kidney(114;0.125)|Colorectal(74;0.145)|BRCA - Breast invasive adenocarcinoma(99;0.245)		CGAATGCCCCGAGTCCGGAGC	0.632													G|||	2	0.000399361	0.0	0.0	5008	,	,		15856	0.0		0.0	False		,,,				2504	0.002					ENST00000301908.3																			2	Substitution - Missense(2)	p.R100E(1)|p.R100Q(1)	lung(2)	central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|lung(3)	5						c.(298-300)cGa>cAa		prepronociceptin							33.0	38.0	36.0					8																	28196729		2203	4300	6503	SO:0001583	missense	5368				neuropeptide signaling pathway|sensory perception|synaptic transmission	extracellular region	neuropeptide hormone activity|opioid peptide activity	g.chr8:28196729G>A		CCDS6066.1, CCDS64862.1	8p21	2013-02-26			ENSG00000168081	ENSG00000168081		"""Endogenous ligands"""	9163	protein-coding gene	gene with protein product	"""nocistatin"""	601459				8710928, 10101606	Standard	XM_005273532		Approved	PPNOC	uc003xgp.3	Q13519	OTTHUMG00000102125	ENST00000301908.3:c.299G>A	8.37:g.28196729G>A	ENSP00000301908:p.Arg100Gln					PNOC_ENST00000522209.1_Missense_Mutation_p.R36Q|RP11-380I10.4_ENST00000521731.1_RNA	p.R100Q	NM_006228.3	NP_006219.1	Q13519	PNOC_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.104)|Kidney(114;0.125)|Colorectal(74;0.145)|BRCA - Breast invasive adenocarcinoma(99;0.245)	3	507	+		Ovarian(32;0.000953)	100					B7Z749|Q6FH16	Missense_Mutation	SNP	ENST00000301908.3	37	c.299G>A	CCDS6066.1	.	.	.	.	.	.	.	.	.	.	G	15.57	2.873429	0.51695	.	.	ENSG00000168081	ENST00000518479;ENST00000301908;ENST00000522209	T;T	0.81415	0.62;-1.49	4.78	4.78	0.61160	.	0.226701	0.41605	D	0.000860	D	0.82972	0.5153	M	0.86097	2.795	0.29323	N	0.867204	P	0.51057	0.941	B	0.43889	0.435	T	0.83332	-0.0012	10	0.66056	D	0.02	-15.8932	13.1952	0.59734	0.0:0.0:1.0:0.0	.	100	Q13519	PNOC_HUMAN	Q	100;100;36	ENSP00000428059:R100Q;ENSP00000301908:R100Q	ENSP00000301908:R100Q	R	+	2	0	PNOC	28252648	0.976000	0.34144	0.945000	0.38365	0.211000	0.24417	2.446000	0.44908	2.474000	0.83562	0.655000	0.94253	CGA		0.632	PNOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000219964.2	NM_006228		5	40	0	0	0	0.000602	0	5	40				
PIP4K2C	79837	broad.mit.edu	37	12	57985101	57985101	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr12:57985101C>T	ENST00000354947.5	+	1	45	c.29C>T	c.(28-30)aCg>aTg	p.T10M	PIP4K2C_ENST00000550465.1_Missense_Mutation_p.T10M|PIP4K2C_ENST00000540759.2_Missense_Mutation_p.T10M|PIP4K2C_ENST00000422156.3_Missense_Mutation_p.T10M			Q8TBX8	PI42C_HUMAN	phosphatidylinositol-5-phosphate 4-kinase, type II, gamma	10						cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	1-phosphatidylinositol-5-phosphate 4-kinase activity (GO:0016309)|ATP binding (GO:0005524)|identical protein binding (GO:0042802)			autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33	Melanoma(17;0.122)					CCACCAGCCACGGTATCGGCG	0.672																																						ENST00000354947.5																			0				autonomic_ganglia(1)|breast(3)|central_nervous_system(2)|endometrium(2)|kidney(2)|large_intestine(3)|lung(13)|pancreas(2)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	33						c.(28-30)aCg>aTg		phosphatidylinositol-5-phosphate 4-kinase, type II, gamma							43.0	52.0	49.0					12																	57985101		2202	4297	6499	SO:0001583	missense	79837					cytoplasm|membrane	1-phosphatidylinositol-5-phosphate 4-kinase activity|ATP binding|identical protein binding	g.chr12:57985101C>T	AK125526	CCDS8946.1, CCDS53808.1, CCDS55839.1	12q13.3	2014-09-04	2007-08-14	2007-08-14	ENSG00000166908	ENSG00000166908			23786	protein-coding gene	gene with protein product			"""phosphatidylinositol-4-phosphate 5-kinase, type II, gamma"""	PIP5K2C		9367159	Standard	NM_024779		Approved	FLJ22055	uc001sot.3	Q8TBX8	OTTHUMG00000170144	ENST00000354947.5:c.29C>T	12.37:g.57985101C>T	ENSP00000347032:p.Thr10Met					PIP4K2C_ENST00000422156.3_Missense_Mutation_p.T10M|PIP4K2C_ENST00000550465.1_Missense_Mutation_p.T10M|PIP4K2C_ENST00000540759.2_Missense_Mutation_p.T10M	p.T10M			Q8TBX8	PI42C_HUMAN			1	45	+	Melanoma(17;0.122)		10					B2RDL3|B4DM11|B4DY44|Q9H6N2	Missense_Mutation	SNP	ENST00000354947.5	37	c.29C>T	CCDS8946.1	.	.	.	.	.	.	.	.	.	.	C	6.823	0.520903	0.13005	.	.	ENSG00000166908	ENST00000422156;ENST00000540759;ENST00000436866;ENST00000551772;ENST00000550465;ENST00000354947	T;T;T;T;T	0.49720	0.77;0.77;0.77;0.77;0.77	3.42	0.338	0.15974	.	0.590596	0.17290	N	0.179693	T	0.25717	0.0626	N	0.14661	0.345	0.09310	N	1	B;B;B	0.17667	0.001;0.023;0.023	B;B;B	0.04013	0.001;0.001;0.001	T	0.13229	-1.0517	10	0.44086	T	0.13	-5.145	6.755	0.23507	0.0:0.5544:0.3406:0.105	.	10;10;10	B4DM11;B4DY44;Q8TBX8	.;.;PI42C_HUMAN	M	10	ENSP00000412035:T10M;ENSP00000439878:T10M;ENSP00000450197:T10M;ENSP00000447390:T10M;ENSP00000347032:T10M	ENSP00000347032:T10M	T	+	2	0	PIP4K2C	56271368	0.952000	0.32445	0.004000	0.12327	0.045000	0.14185	1.037000	0.30241	0.064000	0.16427	0.313000	0.20887	ACG		0.672	PIP4K2C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407644.1	NM_024779		21	67	0	0	0	0.014323	0	21	67				
NGEF	25791	broad.mit.edu	37	2	233757743	233757743	+	Missense_Mutation	SNP	T	T	C			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr2:233757743T>C	ENST00000264051.3	-	7	1285	c.1007A>G	c.(1006-1008)gAg>gGg	p.E336G	NGEF_ENST00000539537.1_Missense_Mutation_p.E59G|NGEF_ENST00000373552.4_Missense_Mutation_p.E244G	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN	neuronal guanine nucleotide exchange factor	336	DH. {ECO:0000255|PROSITE- ProRule:PRU00062}.				apoptotic signaling pathway (GO:0097190)|ephrin receptor signaling pathway (GO:0048013)|negative regulation of dendritic spine morphogenesis (GO:0061002)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of GTPase activity (GO:0043087)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	cell projection (GO:0042995)|cytosol (GO:0005829)|membrane (GO:0016020)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)		CATCCGGTGCTCCAGCTCCAG	0.592																																						ENST00000264051.3																			0				central_nervous_system(4)|endometrium(8)|kidney(2)|large_intestine(3)|lung(10)|ovary(3)|pancreas(1)|skin(4)	35						c.(1006-1008)gAg>gGg		neuronal guanine nucleotide exchange factor							119.0	96.0	104.0					2																	233757743		2203	4299	6502	SO:0001583	missense	25791				apoptosis|cell differentiation|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|nervous system development|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|growth cone|plasma membrane	Rho guanyl-nucleotide exchange factor activity	g.chr2:233757743T>C	AJ238899	CCDS2500.1, CCDS46544.1	2q37	2012-07-24			ENSG00000066248	ENSG00000066248		"""Rho guanine nucleotide exchange factors"""	7807	protein-coding gene	gene with protein product	"""ephexin"""	605991				10777665	Standard	NM_019850		Approved	ARHGEF27	uc002vts.2	Q8N5V2	OTTHUMG00000133272	ENST00000264051.3:c.1007A>G	2.37:g.233757743T>C	ENSP00000264051:p.Glu336Gly					NGEF_ENST00000373552.4_Missense_Mutation_p.E244G|NGEF_ENST00000539537.1_Missense_Mutation_p.E59G	p.E336G	NM_019850.2	NP_062824.2	Q8N5V2	NGEF_HUMAN		Epithelial(121;8.65e-17)|BRCA - Breast invasive adenocarcinoma(100;0.00037)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(119;0.00984)|GBM - Glioblastoma multiforme(43;0.0604)	7	1285	-		Breast(86;0.00279)|Renal(207;0.00339)|all_hematologic(139;0.00793)|Acute lymphoblastic leukemia(138;0.0182)|all_lung(227;0.0271)|Lung NSC(271;0.0839)	336			DH.		B4DMB8|B9A045|E9PC42|Q53QQ4|Q53ST7|Q6GMQ5|Q9NQD6	Missense_Mutation	SNP	ENST00000264051.3	37	c.1007A>G	CCDS2500.1	.	.	.	.	.	.	.	.	.	.	T	27.3	4.816169	0.90790	.	.	ENSG00000066248	ENST00000264051;ENST00000373552;ENST00000541023;ENST00000539537;ENST00000416114;ENST00000458735	T;T;T;T;T	0.68624	-0.34;-0.34;-0.34;-0.34;-0.34	5.14	5.14	0.70334	Dbl homology (DH) domain (5);	0.000000	0.85682	D	0.000000	D	0.84188	0.5417	M	0.88704	2.975	0.80722	D	1	D;D	0.89917	1.0;0.98	D;P	0.83275	0.996;0.757	D	0.87613	0.2505	10	0.87932	D	0	-32.7023	14.9605	0.71153	0.0:0.0:0.0:1.0	.	244;336	E9PC42;Q8N5V2	.;NGEF_HUMAN	G	336;244;226;59;59;59	ENSP00000264051:E336G;ENSP00000362653:E244G;ENSP00000439035:E59G;ENSP00000401063:E59G;ENSP00000412614:E59G	ENSP00000264051:E336G	E	-	2	0	NGEF	233465987	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.625000	0.83145	1.941000	0.56285	0.533000	0.62120	GAG		0.592	NGEF-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000257051.2	XM_044799		3	63	0	0	0	0.000602	0	3	63				
SERPINA5	5104	broad.mit.edu	37	14	95058528	95058528	+	Silent	SNP	C	C	T			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr14:95058528C>T	ENST00000554866.1	+	5	1287	c.1173C>T	c.(1171-1173)ttC>ttT	p.F391F	SERPINA5_ENST00000553780.1_Silent_p.F391F|SERPINA5_ENST00000329597.7_Silent_p.F391F|RP11-986E7.7_ENST00000553947.1_Intron|SERPINA5_ENST00000554276.1_Silent_p.F391F			P05154	IPSP_HUMAN	serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	391					fusion of sperm to egg plasma membrane (GO:0007342)|lipid transport (GO:0006869)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of proteolysis (GO:0045861)|regulation of proteolysis (GO:0030162)|spermatogenesis (GO:0007283)	acrosomal membrane (GO:0002080)|external side of plasma membrane (GO:0009897)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|platelet alpha granule (GO:0031091)|platelet dense tubular network (GO:0031094)|protein C inhibitor-coagulation factor V complex (GO:0097181)|protein C inhibitor-coagulation factor Xa complex (GO:0097182)|protein C inhibitor-coagulation factor XI complex (GO:0097183)|protein C inhibitor-KLK3 complex (GO:0036029)|protein C inhibitor-plasma kallikrein complex (GO:0036030)|protein C inhibitor-PLAT complex (GO:0036026)|protein C inhibitor-PLAU complex (GO:0036027)|protein C inhibitor-thrombin complex (GO:0036028)|protein C inhibitor-TMPRSS11E complex (GO:0036025)|protein C inhibitor-TMPRSS7 complex (GO:0036024)|protein complex (GO:0043234)	acrosin binding (GO:0032190)|glycosaminoglycan binding (GO:0005539)|heparin binding (GO:0008201)|phosphatidylcholine binding (GO:0031210)|protease binding (GO:0002020)|retinoic acid binding (GO:0001972)|serine-type endopeptidase inhibitor activity (GO:0004867)			endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36				COAD - Colon adenocarcinoma(157;0.21)	Drotrecogin alfa(DB00055)|Urokinase(DB00013)	TTCTGATGTTCATTGTGGATA	0.562																																						ENST00000329597.7																			0				endometrium(3)|large_intestine(5)|lung(18)|ovary(2)|skin(5)|upper_aerodigestive_tract(3)	36						c.(1171-1173)ttC>ttT		serpin peptidase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5	Drotrecogin alfa(DB00055)|Urokinase(DB00013)						214.0	232.0	226.0					14																	95058528		2203	4300	6503	SO:0001819	synonymous_variant	5104				fusion of sperm to egg plasma membrane|regulation of proteolysis|spermatogenesis	extracellular region|membrane|protein complex	acrosin binding|heparin binding|protease binding|serine-type endopeptidase inhibitor activity	g.chr14:95058528C>T	M68516	CCDS9928.1	14q32.1	2014-02-18	2005-08-18		ENSG00000188488	ENSG00000188488		"""Serine (or cysteine) peptidase inhibitors"""	8723	protein-coding gene	gene with protein product		601841	"""serine (or cysteine) proteinase inhibitor, clade A (alpha-1 antiproteinase, antitrypsin), member 5"""	PLANH3, PCI		1714450, 8381582, 24172014	Standard	NM_000624		Approved	PAI3, PROCI	uc001ydm.3	P05154	OTTHUMG00000170860	ENST00000554866.1:c.1173C>T	14.37:g.95058528C>T						SERPINA5_ENST00000553780.1_Silent_p.F391F|SERPINA5_ENST00000554866.1_Silent_p.F391F|SERPINA3_ENST00000553947.1_Intron|SERPINA5_ENST00000554276.1_Silent_p.F391F	p.F391F	NM_000624.4	NP_000615.3	P05154	IPSP_HUMAN		COAD - Colon adenocarcinoma(157;0.21)	6	1383	+			391					Q07616|Q9UG30	Silent	SNP	ENST00000554866.1	37	c.1173C>T	CCDS9928.1																																																																																				0.562	SERPINA5-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410726.1	NM_000624		57	360	0	0	0	0.014410	0	57	360				
RIF1	55183	broad.mit.edu	37	2	152320159	152320159	+	Silent	SNP	G	G	A			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr2:152320159G>A	ENST00000243326.5	+	29	4608	c.4125G>A	c.(4123-4125)gaG>gaA	p.E1375E	RIF1_ENST00000428287.2_Silent_p.E1375E|RIF1_ENST00000453091.2_Silent_p.E1375E|RIF1_ENST00000430328.2_Silent_p.E1375E|RIF1_ENST00000444746.2_Silent_p.E1375E			Q9Y581	INSL6_HUMAN	replication timing regulatory factor 1	0					fertilization (GO:0009566)|male gonad development (GO:0008584)|negative regulation of apoptotic process (GO:0043066)|sperm motility (GO:0030317)|spermatid development (GO:0007286)	extracellular region (GO:0005576)	hormone activity (GO:0005179)			NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97				BRCA - Breast invasive adenocarcinoma(221;0.0429)		CTGTAGAGGAGAAAAATGTAG	0.353																																						ENST00000243326.4																			0				NS(2)|breast(8)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(19)|liver(1)|lung(34)|ovary(6)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	97						c.(4123-4125)gaG>gaA		RAP1 interacting factor homolog (yeast)							71.0	77.0	75.0					2																	152320159		2203	4300	6503	SO:0001819	synonymous_variant	55183				cell cycle|response to DNA damage stimulus	chromosome, telomeric region|cytoplasm|nucleus|spindle	binding	g.chr2:152320159G>A	AK022932	CCDS2194.1, CCDS54406.1	2q23.3	2014-06-02	2014-06-02		ENSG00000080345	ENSG00000080345			23207	protein-coding gene	gene with protein product		608952	"""RAP1 interacting factor homolog (yeast)"""			15342490, 15042697, 22850674	Standard	NM_018151		Approved	FLJ12870, FLJ10599	uc002txm.3	Q5UIP0	OTTHUMG00000131886	ENST00000243326.5:c.4125G>A	2.37:g.152320159G>A						RIF1_ENST00000430328.2_Silent_p.E1375E|RIF1_ENST00000444746.2_Silent_p.E1375E|RIF1_ENST00000453091.2_Silent_p.E1375E|RIF1_ENST00000428287.2_Silent_p.E1375E	p.E1375E			Q5UIP0	RIF1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.0429)	29	4608	+			1375					A0AVS0|Q9NS16	Silent	SNP	ENST00000243326.5	37	c.4125G>A	CCDS2194.1																																																																																				0.353	RIF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254836.3			18	54	0	0	0	0.004990	0	18	54				
ANAPC11	51529	broad.mit.edu	37	17	79857212	79857212	+	Intron	SNP	C	C	T			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr17:79857212C>T	ENST00000575195.2	+	2	289				ANAPC11_ENST00000574924.2_Intron|ANAPC11_ENST00000578544.1_Intron|ANAPC11_ENST00000392376.3_Intron|ANAPC11_ENST00000571874.2_Intron|ANAPC11_ENST00000357385.3_Silent_p.I68I|NPB_ENST00000333383.7_5'Flank|ANAPC11_ENST00000577425.1_Intron|ANAPC11_ENST00000571024.2_Intron|ANAPC11_ENST00000579978.1_Intron|ANAPC11_ENST00000578550.1_Intron|ANAPC11_ENST00000344877.5_Intron|NPB_ENST00000573081.1_5'Flank|ANAPC11_ENST00000579133.1_Intron|ANAPC11_ENST00000583839.1_Intron|ANAPC11_ENST00000572851.2_Intron|ANAPC11_ENST00000571570.1_Intron|ANAPC11_ENST00000577747.1_Intron|ANAPC11_ENST00000572639.1_Intron			Q9NYG5	APC11_HUMAN	anaphase promoting complex subunit 11						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 ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|protein K11-linked ubiquitination (GO:0070979)|protein ubiquitination (GO:0016567)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)	anaphase-promoting complex (GO:0005680)|cytosol (GO:0005829)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			kidney(1)|lung(1)	2	all_neural(118;0.0878)|Ovarian(332;0.12)		BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)			AGGTGCCCATCAACACAGCTT	0.607																																						ENST00000357385.3																			0				kidney(1)|lung(1)	2						c.(202-204)atC>atT		anaphase promoting complex subunit 11							70.0	62.0	65.0					17																	79857212		2203	4299	6502	SO:0001627	intron_variant	51529				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|cell division|mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|protein K11-linked ubiquitination	anaphase-promoting complex|cytosol|nucleoplasm	zinc ion binding	g.chr17:79857212C>T	AF247565	CCDS11789.1, CCDS32769.1, CCDS74180.1	17q25.3	2011-06-15	2008-10-30			ENSG00000141552		"""Anaphase promoting complex subunits"""	14452	protein-coding gene	gene with protein product		614534	"""anaphase promoting complex subunit 11 (yeast APC11 homolog)"""			10922056	Standard	NM_001002245		Approved	HSPC214, APC11, Apc11p, MGC882	uc002kby.1	Q9NYG5		ENST00000575195.2:c.110-584C>T	17.37:g.79857212C>T						ANAPC11_ENST00000571874.2_Intron|ANAPC11_ENST00000577425.1_Intron|ANAPC11_ENST00000578544.1_Intron|ANAPC11_ENST00000571024.2_Intron|ANAPC11_ENST00000583839.1_Intron|ANAPC11_ENST00000577747.1_Intron|ANAPC11_ENST00000572851.2_Intron|ANAPC11_ENST00000572639.1_Intron|ANAPC11_ENST00000574924.2_Intron|ANAPC11_ENST00000575195.2_Intron|ANAPC11_ENST00000578550.1_Intron|ANAPC11_ENST00000571570.1_Intron|ANAPC11_ENST00000392376.3_Intron|ANAPC11_ENST00000579978.1_Intron|ANAPC11_ENST00000344877.5_Intron|ANAPC11_ENST00000579133.1_Intron	p.I68I	NM_001002244.1	NP_001002244.1	Q9NYG5	APC11_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.013)|OV - Ovarian serous cystadenocarcinoma(97;0.0382)		3	340	+	all_neural(118;0.0878)|Ovarian(332;0.12)		0					A8MTT2|B7ZW64|Q502X9|Q9BW64|Q9P0R2	Silent	SNP	ENST00000575195.2	37	c.204C>T	CCDS11789.1																																																																																				0.607	ANAPC11-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440106.2	NM_016476		9	30	0	0	0	0.006214	0	9	30				
TUBB8P7	197331	broad.mit.edu	37	16	90161618	90161618	+	RNA	SNP	C	C	T	rs13338202	byFrequency	TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr16:90161618C>T	ENST00000564451.1	+	0	971				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.D118D(2)									CAGTGATGGACGTTGTCAGAA	0.607													.|||	94	0.01877	0.0469	0.0173	5008	,	,		18765	0.0		0.0169	False		,,,				2504	0.0031					ENST00000564451.1																			2	Substitution - coding silent(2)	p.D118D(2)	kidney(2)																																																0							g.chr16:90161618C>T			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161618C>T						TUBB8P7_ENST00000567960.1_RNA								0	971	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.607	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		4	44	0	0	0	0.003080	0	4	44				
TMEM26	219623	broad.mit.edu	37	10	63188763	63188763	+	Missense_Mutation	SNP	G	G	C			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr10:63188763G>C	ENST00000399298.3	-	4	894	c.526C>G	c.(526-528)Caa>Gaa	p.Q176E	TMEM26_ENST00000399293.1_Missense_Mutation_p.Q176E	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN	transmembrane protein 26	176						integral component of membrane (GO:0016021)				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18	Prostate(12;0.0112)					AGAAGAAGTTGAGAGAGTTGA	0.448																																						ENST00000399298.3																			0				kidney(1)|large_intestine(2)|lung(11)|prostate(1)|skin(2)|urinary_tract(1)	18						c.(526-528)Caa>Gaa		transmembrane protein 26							114.0	115.0	114.0					10																	63188763		1939	4141	6080	SO:0001583	missense	219623					integral to membrane		g.chr10:63188763G>C	BC042872	CCDS41530.1	10q21.3	2008-10-20			ENSG00000196932	ENSG00000196932			28550	protein-coding gene	gene with protein product						12477932	Standard	NM_178505		Approved	MGC35010, Em:AC068892.1	uc001jlo.2	Q6ZUK4	OTTHUMG00000018293	ENST00000399298.3:c.526C>G	10.37:g.63188763G>C	ENSP00000382237:p.Gln176Glu					TMEM26_ENST00000399293.1_Missense_Mutation_p.Q176E	p.Q176E	NM_178505.6	NP_848600.2	Q6ZUK4	TMM26_HUMAN			4	894	-	Prostate(12;0.0112)		176					Q6ZVM0|Q8IVN9	Missense_Mutation	SNP	ENST00000399298.3	37	c.526C>G	CCDS41530.1	.	.	.	.	.	.	.	.	.	.	G	14.84	2.655870	0.47467	.	.	ENSG00000196932	ENST00000399298;ENST00000277749;ENST00000399293	.	.	.	5.16	3.28	0.37604	.	0.357546	0.32785	N	0.005652	T	0.57784	0.2077	L	0.50919	1.6	0.53688	D	0.999978	B	0.12630	0.006	B	0.20184	0.028	T	0.55823	-0.8080	9	0.51188	T	0.08	-10.4701	15.2267	0.73357	0.0:0.3595:0.6405:0.0	.	176	Q6ZUK4	TMM26_HUMAN	E	176;86;176	.	ENSP00000277749:Q86E	Q	-	1	0	TMEM26	62858769	1.000000	0.71417	0.974000	0.42286	0.977000	0.68977	6.130000	0.71663	0.664000	0.31047	0.591000	0.81541	CAA		0.448	TMEM26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000359121.1	NM_178505		12	33	0	0	0	0.013537	0	12	33				
GPR114	221188	broad.mit.edu	37	16	57601840	57601840	+	Missense_Mutation	SNP	C	C	G			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr16:57601840C>G	ENST00000340339.4	+	9	1417	c.894C>G	c.(892-894)ttC>ttG	p.F298L	GPR114_ENST00000349457.3_Missense_Mutation_p.F298L|GPR114_ENST00000394361.4_3'UTR	NM_153837.1	NP_722579.1	Q8IZF4	GP114_HUMAN	G protein-coupled receptor 114	298					G-protein coupled receptor signaling pathway (GO:0007186)|neuropeptide signaling pathway (GO:0007218)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						ACATCGCCTTCCTGCTGAGCC	0.612																																						ENST00000340339.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(5)|ovary(2)|stomach(1)|urinary_tract(1)	23						c.(892-894)ttC>ttG		G protein-coupled receptor 114							101.0	78.0	86.0					16																	57601840		2198	4300	6498	SO:0001583	missense	221188				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr16:57601840C>G	AY140956	CCDS10785.1	16q13	2014-08-08			ENSG00000159618	ENSG00000159618		"""-"", ""GPCR / Class B : Orphans"""	19010	protein-coding gene	gene with protein product						12435584	Standard	NM_153837		Approved	PGR27	uc002ely.3	Q8IZF4	OTTHUMG00000133461	ENST00000340339.4:c.894C>G	16.37:g.57601840C>G	ENSP00000342981:p.Phe298Leu					GPR114_ENST00000394361.4_3'UTR|GPR114_ENST00000349457.3_Missense_Mutation_p.F298L	p.F298L	NM_153837.1	NP_722579.1	Q8IZF4	GP114_HUMAN			9	1417	+			298					B3KXZ5|Q6ZMH7|Q6ZML4|Q86SL8|Q8IZ14	Missense_Mutation	SNP	ENST00000340339.4	37	c.894C>G	CCDS10785.1	.	.	.	.	.	.	.	.	.	.	C	18.19	3.568347	0.65651	.	.	ENSG00000159618	ENST00000394361;ENST00000340339;ENST00000349457	T;T	0.44482	0.92;0.92	4.05	4.05	0.47172	GPCR, family 2-like (1);	0.000000	0.46758	U	0.000274	T	0.63686	0.2532	M	0.82132	2.575	0.54753	D	0.99998	D;P	0.55605	0.972;0.698	D;B	0.66602	0.945;0.207	T	0.70085	-0.4969	10	0.87932	D	0	.	13.4036	0.60898	0.0:1.0:0.0:0.0	.	298;298	B4E148;Q8IZF4	.;GP114_HUMAN	L	298	ENSP00000342981:F298L;ENSP00000290823:F298L	ENSP00000342981:F298L	F	+	3	2	GPR114	56159341	1.000000	0.71417	1.000000	0.80357	0.360000	0.29518	2.512000	0.45485	1.977000	0.57605	0.574000	0.79327	TTC		0.612	GPR114-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257336.3	NM_153837		6	25	0	0	0	0.001168	0	6	25				
RBM4	5936	broad.mit.edu	37	11	66407597	66407597	+	Intron	SNP	G	G	A			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr11:66407597G>A	ENST00000409406.1	+	1	1189				RBM4_ENST00000310092.7_Intron|RBM4_ENST00000514361.3_Intron|RBM4_ENST00000398692.4_Intron|RBM4_ENST00000530235.1_Intron|RBM4_ENST00000483858.1_Missense_Mutation_p.E139K|RBM14-RBM4_ENST00000412278.2_Intron|RBM4_ENST00000506523.2_Intron|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000578778.1_Intron|RBM4_ENST00000503028.2_Intron|RBM4_ENST00000408993.2_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000532968.1_Missense_Mutation_p.E139K			Q9BWF3	RBM4_HUMAN	RNA binding motif protein 4						cap-independent translational initiation (GO:0002190)|cell differentiation (GO:0030154)|circadian regulation of translation (GO:0097167)|entrainment of circadian clock by photoperiod (GO:0043153)|IRES-dependent translational initiation (GO:0002192)|mRNA processing (GO:0006397)|negative regulation of translation (GO:0017148)|negative regulation of translation in response to stress (GO:0032055)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|positive regulation of muscle cell differentiation (GO:0051149)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|regulation of nucleocytoplasmic transport (GO:0046822)|response to arsenic-containing substance (GO:0046685)|RNA processing (GO:0006396)|RNA splicing (GO:0008380)|stress-activated MAPK cascade (GO:0051403)	cytoplasm (GO:0005737)|cytoplasmic stress granule (GO:0010494)|nuclear speck (GO:0016607)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	miRNA binding (GO:0035198)|mRNA 3'-UTR binding (GO:0003730)|mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|pre-mRNA intronic binding (GO:0097157)|pre-mRNA intronic pyrimidine-rich binding (GO:0097158)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13				Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)		GTTTCAAGGTGAACCACCCTC	0.488																																						ENST00000483858.1																			0				endometrium(3)|large_intestine(4)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(415-417)Gaa>Aaa		RNA binding motif protein 4							70.0	64.0	66.0					11																	66407597		2200	4295	6495	SO:0001627	intron_variant	5936							g.chr11:66407597G>A	U89505	CCDS41676.1, CCDS55776.1, CCDS55777.1	11q13	2013-02-12			ENSG00000173933	ENSG00000173933		"""Zinc fingers, CCHC domain containing"", ""RNA binding motif (RRM) containing"""	9901	protein-coding gene	gene with protein product		602571				9169144, 16260624	Standard	NM_002896		Approved	LARK, RBM4A, ZCRB3A, ZCCHC21		Q9BWF3	OTTHUMG00000154171	ENST00000409406.1:c.412+3G>A	11.37:g.66407597G>A						RBM4_ENST00000530235.1_Intron|RBM4_ENST00000396053.4_Intron|RBM4_ENST00000506523.2_Intron|RBM4_ENST00000409406.1_Intron|RBM4_ENST00000408993.2_Intron|RBM4_ENST00000503028.2_Intron|RBM14-RBM4_ENST00000500635.2_Intron|RBM4_ENST00000398692.4_Intron|RBM4_ENST00000310092.7_Intron|RBM14-RBM4_ENST00000412278.2_Intron|RBM4_ENST00000578778.1_Intron|RBM4_ENST00000514361.3_Intron|RBM4_ENST00000532968.1_Missense_Mutation_p.E139K	p.E139K						Lung(977;0.0112)|LUSC - Lung squamous cell carcinoma(976;0.0266)	2	482	+								B3KUN0|B4E1U0|E7EQS3|O02916|Q4VC48|Q6P1P2|Q8WU85	Missense_Mutation	SNP	ENST00000409406.1	37	c.415G>A	CCDS41676.1	.	.	.	.	.	.	.	.	.	.	G	13.44	2.237789	0.39598	.	.	ENSG00000173933	ENST00000483858;ENST00000532968	T;T	0.72051	-0.62;-0.62	4.81	3.88	0.44766	.	.	.	.	.	T	0.56630	0.1998	.	.	.	0.80722	D	1	B	0.06786	0.001	B	0.04013	0.001	T	0.49370	-0.8947	7	.	.	.	.	12.5059	0.55981	0.0:0.0:0.8317:0.1683	.	139	Q9BWF3-2	.	K	139	ENSP00000435821:E139K;ENSP00000432020:E139K	.	E	+	1	0	RBM4	66164173	1.000000	0.71417	1.000000	0.80357	0.971000	0.66376	9.072000	0.93986	1.152000	0.42452	-0.188000	0.12872	GAA		0.488	RBM4-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000334212.1	NM_002896		10	67	0	0	0	0.008291	0	10	67				
C20orf197	284756	broad.mit.edu	37	20	58645884	58645884	+	Missense_Mutation	SNP	G	G	T			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr20:58645884G>T	ENST00000313426.1	+	4	608	c.302G>T	c.(301-303)aGt>aTt	p.S101I		NM_173644.1	NP_775915.1	Q8N268	CT197_HUMAN	chromosome 20 open reading frame 197	101										large_intestine(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	5			BRCA - Breast invasive adenocarcinoma(7;2.33e-09)			gctctgcaaagttctgcacca	0.478																																						ENST00000313426.1																			0				large_intestine(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	5						c.(301-303)aGt>aTt		chromosome 20 open reading frame 197							63.0	62.0	62.0					20																	58645884		2203	4300	6503	SO:0001583	missense	284756							g.chr20:58645884G>T	AK091179	CCDS13487.1	20q13.33	2006-07-07			ENSG00000176659	ENSG00000176659			26601	protein-coding gene	gene with protein product						12975309	Standard	NM_173644		Approved	FLJ33860	uc002ybj.1	Q8N268	OTTHUMG00000032880	ENST00000313426.1:c.302G>T	20.37:g.58645884G>T	ENSP00000316457:p.Ser101Ile						p.S101I	NM_173644.1	NP_775915.1	Q8N268	CT197_HUMAN	BRCA - Breast invasive adenocarcinoma(7;2.33e-09)		4	608	+			101					Q08EQ0	Missense_Mutation	SNP	ENST00000313426.1	37	c.302G>T	CCDS13487.1	.	.	.	.	.	.	.	.	.	.	G	8.640	0.895800	0.17686	.	.	ENSG00000176659	ENST00000313426	.	.	.	2.12	-0.0676	0.13759	.	.	.	.	.	T	0.19248	0.0462	N	0.08118	0	0.09310	N	1	P	0.51537	0.946	P	0.50934	0.654	T	0.10543	-1.0625	8	0.87932	D	0	.	3.1357	0.06438	0.1895:0.3089:0.5015:0.0	.	101	Q8N268	CT197_HUMAN	I	101	.	ENSP00000316457:S101I	S	+	2	0	C20orf197	58079279	0.000000	0.05858	0.000000	0.03702	0.146000	0.21551	-0.153000	0.10144	0.014000	0.14944	0.491000	0.48974	AGT		0.478	C20orf197-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079944.1	NM_173644		3	11	1	0	6.4e-05	0.004672	7.43434e-05	3	11				
ATG9A	79065	broad.mit.edu	37	2	220089873	220089873	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr2:220089873G>A	ENST00000409618.1	-	7	875	c.436C>T	c.(436-438)Cgg>Tgg	p.R146W	ATG9A_ENST00000396761.2_Missense_Mutation_p.R146W|ATG9A_ENST00000361242.4_Missense_Mutation_p.R146W|AC068946.1_ENST00000408417.1_RNA|ATG9A_ENST00000488833.1_5'Flank|ATG9A_ENST00000409422.1_Missense_Mutation_p.R85W			Q7Z3C6	ATG9A_HUMAN	autophagy related 9A	146					autophagic vacuole assembly (GO:0000045)|late nucleophagy (GO:0044805)|mitochondrion degradation (GO:0000422)|piecemeal microautophagy of nucleus (GO:0034727)|protein localization to pre-autophagosomal structure (GO:0034497)|protein transport (GO:0015031)	autophagic vacuole (GO:0005776)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|membrane (GO:0016020)|pre-autophagosomal structure (GO:0000407)|recycling endosome (GO:0055037)|trans-Golgi network (GO:0005802)				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13		Renal(207;0.0474)		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		TTGATAAGCCGGTGGATCCAG	0.522																																						ENST00000409618.1																			0				endometrium(2)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(1)	13						c.(436-438)Cgg>Tgg		autophagy related 9A							120.0	122.0	121.0					2																	220089873		1925	4155	6080	SO:0001583	missense	79065				autophagic vacuole assembly|protein transport	autophagic vacuole membrane|cytoplasmic vesicle|Golgi apparatus|integral to membrane|late endosome membrane		g.chr2:220089873G>A	AK021732	CCDS42820.1	2q35	2014-02-12	2012-06-06	2005-09-11	ENSG00000198925	ENSG00000198925			22408	protein-coding gene	gene with protein product		612204	"""APG9 autophagy 9-like 1 (S. cerevisiae)"", ""ATG9 autophagy related 9 homolog A (S. cerevisiae)"""	APG9L1			Standard	NM_024085		Approved	FLJ22169	uc002vkf.1	Q7Z3C6	OTTHUMG00000154557	ENST00000409618.1:c.436C>T	2.37:g.220089873G>A	ENSP00000386710:p.Arg146Trp					ATG9A_ENST00000396761.2_Missense_Mutation_p.R146W|ATG9A_ENST00000409422.1_Missense_Mutation_p.R85W|ATG9A_ENST00000361242.4_Missense_Mutation_p.R146W	p.R146W			Q7Z3C6	ATG9A_HUMAN		Epithelial(149;1.37e-06)|all cancers(144;0.000222)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	7	875	-		Renal(207;0.0474)	146					Q3ZAQ6|Q6P0N7|Q7Z317|Q7Z320|Q8NDK6|Q8WU65|Q9BVL5|Q9H6L1|Q9HAG7	Missense_Mutation	SNP	ENST00000409618.1	37	c.436C>T	CCDS42820.1	.	.	.	.	.	.	.	.	.	.	G	20.1	3.932657	0.73442	.	.	ENSG00000198925	ENST00000396761;ENST00000409618;ENST00000361242;ENST00000409422;ENST00000431715;ENST00000436856;ENST00000457841;ENST00000428226	T;T;T;T;T;T;T	0.20463	2.07;2.07;2.07;2.07;2.07;2.07;2.07	5.03	5.03	0.67393	.	0.000000	0.85682	D	0.000000	T	0.49423	0.1556	M	0.84219	2.685	0.80722	D	1	D	0.89917	1.0	D	0.75020	0.985	T	0.54589	-0.8271	10	0.87932	D	0	.	15.0243	0.71656	0.0:0.0:0.8576:0.1424	.	146	Q7Z3C6	ATG9A_HUMAN	W	146;146;146;85;50;146;146;146	ENSP00000379983:R146W;ENSP00000386710:R146W;ENSP00000355173:R146W;ENSP00000386535:R85W;ENSP00000401530:R146W;ENSP00000404750:R146W;ENSP00000409164:R146W	ENSP00000355173:R146W	R	-	1	2	ATG9A	219798117	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.781000	0.85668	2.608000	0.88229	0.655000	0.94253	CGG		0.522	ATG9A-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335930.1	NM_024085		4	93	0	0	0	0.009096	0	4	93				
CNR2	1269	broad.mit.edu	37	1	24201958	24201958	+	Missense_Mutation	SNP	C	C	G			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr1:24201958C>G	ENST00000374472.4	-	2	311	c.150G>C	c.(148-150)gaG>gaC	p.E50D	CNR2_ENST00000536471.1_Missense_Mutation_p.E50D	NM_001841.2	NP_001832.1	P34972	CNR2_HUMAN	cannabinoid receptor 2 (macrophage)	50					G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|immune response (GO:0006955)|inflammatory response (GO:0006954)|negative regulation of action potential (GO:0045759)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mast cell activation (GO:0033004)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of synaptic transmission, GABAergic (GO:0032229)|response to amphetamine (GO:0001975)|response to lipopolysaccharide (GO:0032496)|sensory perception of pain (GO:0019233)	dendrite (GO:0030425)|extrinsic component of cytoplasmic side of plasma membrane (GO:0031234)|integral component of plasma membrane (GO:0005887)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)	cannabinoid receptor activity (GO:0004949)	p.E50E(2)		breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	Dronabinol(DB00470)|Nabilone(DB00486)	CAGCCACGTTCTCCAGGGCAC	0.557																																						ENST00000536471.1																			2	Substitution - coding silent(2)	p.E50E(2)	lung(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|lung(9)|pancreas(1)|skin(2)|stomach(6)|upper_aerodigestive_tract(2)	26						c.(148-150)gaG>gaC		cannabinoid receptor 2 (macrophage)	Nabilone(DB00486)						82.0	84.0	84.0					1																	24201958		2203	4300	6503	SO:0001583	missense	1269				behavior|G-protein signaling, coupled to cyclic nucleotide second messenger|immune response|inflammatory response	dendrite|integral to plasma membrane|perikaryon	cannabinoid receptor activity	g.chr1:24201958C>G	X74328	CCDS245.1	1p	2012-08-08			ENSG00000188822	ENSG00000188822		"""GPCR / Class A : Cannabinoid receptors"""	2160	protein-coding gene	gene with protein product		605051					Standard	NM_001841		Approved	CB2	uc001bif.3	P34972	OTTHUMG00000013892	ENST00000374472.4:c.150G>C	1.37:g.24201958C>G	ENSP00000363596:p.Glu50Asp					CNR2_ENST00000374472.4_Missense_Mutation_p.E50D	p.E50D			P34972	CNR2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|OV - Ovarian serous cystadenocarcinoma(117;1.32e-24)|Colorectal(126;6.09e-08)|COAD - Colon adenocarcinoma(152;3.33e-06)|GBM - Glioblastoma multiforme(114;2.9e-05)|BRCA - Breast invasive adenocarcinoma(304;0.00101)|KIRC - Kidney renal clear cell carcinoma(1967;0.00359)|STAD - Stomach adenocarcinoma(196;0.0131)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.146)	3	408	-		Colorectal(325;3.46e-05)|Renal(390;0.000219)|Lung NSC(340;0.000233)|all_lung(284;0.000321)|Ovarian(437;0.00348)|Breast(348;0.00957)|Myeloproliferative disorder(586;0.0255)	50					C6ES44|Q4VBK8|Q5JRH7|Q6B0G7|Q6NSY0	Missense_Mutation	SNP	ENST00000374472.4	37	c.150G>C	CCDS245.1	.	.	.	.	.	.	.	.	.	.	C	17.79	3.475427	0.63737	.	.	ENSG00000188822	ENST00000374472;ENST00000536471	T;T	0.37584	1.19;1.19	6.04	4.18	0.49190	GPCR, rhodopsin-like superfamily (1);	0.146462	0.64402	D	0.000011	T	0.61160	0.2325	M	0.82517	2.595	0.45690	D	0.9986	D	0.59357	0.985	D	0.70935	0.971	T	0.65990	-0.6034	10	0.87932	D	0	.	12.5506	0.56223	0.0:0.8666:0.0:0.1334	.	50	P34972	CNR2_HUMAN	D	50	ENSP00000363596:E50D;ENSP00000442830:E50D	ENSP00000363596:E50D	E	-	3	2	CNR2	24074545	1.000000	0.71417	1.000000	0.80357	0.333000	0.28666	2.181000	0.42547	0.893000	0.36288	0.561000	0.74099	GAG		0.557	CNR2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000038949.1	NM_001841		6	67	0	0	0	0.004482	0	6	67				
EHBP1L1	254102	broad.mit.edu	37	11	65349703	65349703	+	Silent	SNP	G	G	C			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr11:65349703G>C	ENST00000309295.4	+	9	1825	c.1560G>C	c.(1558-1560)ggG>ggC	p.G520G		NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN	EH domain binding protein 1-like 1	520						membrane (GO:0016020)				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						GTATTGAGGGGACAGGCCTGG	0.637																																						ENST00000309295.4																			0				central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(3)|large_intestine(3)|lung(6)|ovary(1)|skin(1)|upper_aerodigestive_tract(2)	23						c.(1558-1560)ggG>ggC		EH domain binding protein 1-like 1							17.0	19.0	18.0					11																	65349703		1944	4129	6073	SO:0001819	synonymous_variant	254102							g.chr11:65349703G>C	AL834433	CCDS44649.1	11q13.1	2008-02-05			ENSG00000173442	ENSG00000173442			30682	protein-coding gene	gene with protein product							Standard	NM_001099409		Approved	DKFZp762C186, TANGERIN	uc001oeo.4	Q8N3D4	OTTHUMG00000166520	ENST00000309295.4:c.1560G>C	11.37:g.65349703G>C							p.G520G	NM_001099409.1	NP_001092879.1	Q8N3D4	EH1L1_HUMAN			9	1825	+			520					Q8TB89|Q9H7M7	Silent	SNP	ENST00000309295.4	37	c.1560G>C	CCDS44649.1																																																																																				0.637	EHBP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390145.1	XM_170658		4	14	0	0	0	0.000602	0	4	14				
BMS1P20	96610	broad.mit.edu	37	22	22661187	22661187	+	RNA	SNP	G	G	A			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr22:22661187G>A	ENST00000426066.1	+	0	279					NR_027293.1				BMS1 pseudogene 20																		CCCCCACCCCGTCATGTACAG	0.413																																						ENST00000426066.1																			0																																																			0							g.chr22:22661187G>A			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22661187G>A								NR_027293.1						0	279	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.413	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			3	26	0	0	0	0.004672	0	3	26				
ABL2	27	broad.mit.edu	37	1	179077163	179077163	+	Nonsense_Mutation	SNP	G	G	C			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr1:179077163G>C	ENST00000502732.1	-	12	3442	c.3239C>G	c.(3238-3240)tCa>tGa	p.S1080*	ABL2_ENST00000507173.1_Nonsense_Mutation_p.S956*|ABL2_ENST00000511413.1_Nonsense_Mutation_p.S977*|ABL2_ENST00000504405.1_Nonsense_Mutation_p.S941*|ABL2_ENST00000408940.3_Nonsense_Mutation_p.S1044*|ABL2_ENST00000344730.3_Nonsense_Mutation_p.S962*|ABL2_ENST00000367623.4_Nonsense_Mutation_p.S1059*|ABL2_ENST00000512653.1_Nonsense_Mutation_p.S1065*	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN	ABL proto-oncogene 2, non-receptor tyrosine kinase	1080	F-actin-binding. {ECO:0000250}.				actin filament bundle assembly (GO:0051017)|axon guidance (GO:0007411)|cell adhesion (GO:0007155)|cellular protein modification process (GO:0006464)|cellular response to retinoic acid (GO:0071300)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of neuron projection development (GO:0010976)|positive regulation of oxidoreductase activity (GO:0051353)|positive regulation of phospholipase C activity (GO:0010863)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of autophagy (GO:0010506)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of endocytosis (GO:0030100)|signal transduction (GO:0007165)	actin cytoskeleton (GO:0015629)|cytosol (GO:0005829)	actin filament binding (GO:0051015)|actin monomer binding (GO:0003785)|ATP binding (GO:0005524)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein tyrosine kinase activity (GO:0004713)			breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65					Adenosine triphosphate(DB00171)|Dasatinib(DB01254)	TTTGTCTGCTGAGATTTTCTC	0.532			T	ETV6	AML																																	ENST00000502732.1				Dom	yes		1	1q24-q25	27	T	v-abl Abelson murine leukemia viral oncogene homolog 2			L	ETV6		AML		0				breast(8)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(9)|lung(32)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	65						c.(3238-3240)tCa>tGa		c-abl oncogene 2, non-receptor tyrosine kinase	Adenosine triphosphate(DB00171)|Dasatinib(DB01254)						54.0	51.0	52.0					1																	179077163		2203	4300	6503	SO:0001587	stop_gained	27				axon guidance|cell adhesion|peptidyl-tyrosine phosphorylation|positive regulation of oxidoreductase activity|signal transduction	cytoskeleton|cytosol	ATP binding|magnesium ion binding|manganese ion binding|non-membrane spanning protein tyrosine kinase activity|protein binding	g.chr1:179077163G>C	M14904	CCDS30947.1, CCDS41441.1, CCDS44282.1, CCDS44283.1, CCDS41441.2, CCDS53435.1, CCDS53436.1, CCDS53437.1, CCDS53438.1	1q25.2	2014-06-26	2014-06-26		ENSG00000143322	ENSG00000143322		"""SH2 domain containing"""	77	protein-coding gene	gene with protein product	"""Abelson-related gene"""	164690	"""v-abl Abelson murine leukemia viral oncogene homolog 2 (arg, Abelson-related gene)"", ""v-abl Abelson murine leukemia viral oncogene homolog 2"", ""c-abl oncogene 2, non-receptor tyrosine kinase"""	ABLL		3787260	Standard	NM_001136001		Approved	ARG	uc001gmi.4	P42684	OTTHUMG00000035199	ENST00000502732.1:c.3239C>G	1.37:g.179077163G>C	ENSP00000427562:p.Ser1080*					ABL2_ENST00000504405.1_Nonsense_Mutation_p.S941*|ABL2_ENST00000344730.3_Nonsense_Mutation_p.S962*|ABL2_ENST00000512653.1_Nonsense_Mutation_p.S1065*|ABL2_ENST00000408940.3_Nonsense_Mutation_p.S1044*|ABL2_ENST00000511413.1_Nonsense_Mutation_p.S977*|ABL2_ENST00000367623.4_Nonsense_Mutation_p.S1059*|ABL2_ENST00000507173.1_Nonsense_Mutation_p.S956*	p.S1080*	NM_001168236.1|NM_001168237.1|NM_001168238.1|NM_007314.3	NP_001161708.1|NP_001161709.1|NP_001161710.1|NP_009298.1	P42684	ABL2_HUMAN			12	3442	-			1080			F-actin-binding (By similarity).		A0M8X0|B7UEF2|B7UEF3|B7UEF4|B7UEF5|Q5T0X6|Q5W0C5|Q6NZY6|Q7Z301	Nonsense_Mutation	SNP	ENST00000502732.1	37	c.3239C>G	CCDS30947.1	.	.	.	.	.	.	.	.	.	.	G	37	6.210778	0.97380	.	.	ENSG00000143322	ENST00000502732;ENST00000408940;ENST00000344730;ENST00000512653;ENST00000504405;ENST00000367623;ENST00000507173;ENST00000511413	.	.	.	5.35	5.35	0.76521	.	0.201841	0.26029	N	0.026771	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.62326	D	0.03	.	18.4316	0.90627	0.0:0.0:1.0:0.0	.	.	.	.	X	1080;1044;962;1065;941;1059;956;977	.	ENSP00000339209:S962X	S	-	2	0	ABL2	177343786	1.000000	0.71417	0.998000	0.56505	0.992000	0.81027	9.428000	0.97476	2.655000	0.90218	0.655000	0.94253	TCA		0.532	ABL2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000085174.3	NM_005158		8	37	0	0	0	0.003080	0	8	37				
NISCH	11188	broad.mit.edu	37	3	52526232	52526232	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr3:52526232G>A	ENST00000479054.1	+	22	4321	c.4249G>A	c.(4249-4251)Gac>Aac	p.D1417N	NISCH_ENST00000345716.4_Missense_Mutation_p.D1417N			Q9Y2I1	NISCH_HUMAN	nischarin	1417					actin cytoskeleton organization (GO:0030036)|apoptotic process (GO:0006915)|glucose metabolic process (GO:0006006)|negative regulation of cell migration (GO:0030336)|norepinephrine secretion (GO:0048243)|Rac protein signal transduction (GO:0016601)|regulation of blood pressure (GO:0008217)|regulation of synaptic transmission, GABAergic (GO:0032228)	cytosol (GO:0005829)|endosome (GO:0005768)|membrane (GO:0016020)|plasma membrane (GO:0005886)	G-protein coupled amine receptor activity (GO:0008227)|identical protein binding (GO:0042802)|phosphatidylinositol binding (GO:0035091)			NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33				BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	Tizanidine(DB00697)	CCGGGACCTGGACCGAGTGCT	0.637																																						ENST00000345716.4																			0				NS(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(9)|ovary(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(4)	33						c.(4249-4251)Gac>Aac		nischarin							88.0	88.0	88.0					3																	52526232		2203	4299	6502	SO:0001583	missense	11188				apoptosis|cell communication	cytosol|early endosome|plasma membrane|recycling endosome	phosphatidylinositol binding|receptor activity	g.chr3:52526232G>A	AF082516	CCDS33767.1, CCDS63651.1, CCDS63652.1	3p21.1	2008-07-18			ENSG00000010322	ENSG00000010322			18006	protein-coding gene	gene with protein product	"""imidazoline receptor candidate"", ""I-1 receptor candidate protein"", ""imidazoline receptor antisera selected"""	615507				11912194, 10882231	Standard	NM_007184		Approved	KIAA0975, I-1, IRAS	uc003ded.4	Q9Y2I1	OTTHUMG00000158571	ENST00000479054.1:c.4249G>A	3.37:g.52526232G>A	ENSP00000418232:p.Asp1417Asn					NISCH_ENST00000479054.1_Missense_Mutation_p.D1417N	p.D1417N	NM_007184.3	NP_009115.2	Q9Y2I1	NISCH_HUMAN		BRCA - Breast invasive adenocarcinoma(193;1.93e-05)|Kidney(197;0.00216)|KIRC - Kidney renal clear cell carcinoma(197;0.00244)|OV - Ovarian serous cystadenocarcinoma(275;0.0577)	21	4383	+			1417					C9J245|Q6PGP3|Q6PIB4|Q7L8M3|Q7Z2X6|Q9UES6|Q9UEU4|Q9UFW3	Missense_Mutation	SNP	ENST00000479054.1	37	c.4249G>A	CCDS33767.1	.	.	.	.	.	.	.	.	.	.	G	29.2	4.982343	0.93044	.	.	ENSG00000010322	ENST00000479054;ENST00000345716;ENST00000433196;ENST00000414197	T;T	0.12255	2.7;2.7	5.37	5.37	0.77165	.	0.000000	0.85682	D	0.000000	T	0.26484	0.0647	L	0.32530	0.975	0.48087	D	0.999583	D	0.67145	0.996	P	0.60609	0.877	T	0.00958	-1.1500	10	0.66056	D	0.02	-41.8002	19.116	0.93340	0.0:0.0:1.0:0.0	.	1417	Q9Y2I1	NISCH_HUMAN	N	1417;1417;341;761	ENSP00000418232:D1417N;ENSP00000339958:D1417N	ENSP00000339958:D1417N	D	+	1	0	NISCH	52501272	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.090000	0.94144	2.535000	0.85469	0.561000	0.74099	GAC		0.637	NISCH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351357.1	NM_007184		27	112	0	0	0	0.003954	0	27	112				
DNM1P46	196968	broad.mit.edu	37	15	100331686	100331686	+	RNA	SNP	T	T	G			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr15:100331686T>G	ENST00000341853.1	-	0	2505				RN7SL484P_ENST00000462651.2_RNA|AC090825.1_ENST00000408584.1_RNA	NR_003260.1		Q6ZS02	DMP46_HUMAN	DNM1 pseudogene 46							microtubule (GO:0005874)	GTPase activity (GO:0003924)										ACAGTGAGGGTGGAGGCAGAG	0.537																																						ENST00000341853.1																			0																				16.0	18.0	18.0					15																	100331686		876	1991	2867			0							g.chr15:100331686T>G	AJ576275		15q26.3	2013-04-25			ENSG00000182397	ENSG00000182397			35199	pseudogene	pseudogene			"""chromosome 15 open reading frame 51"""	DNM1DN14@, C15orf51			Standard	NR_003260		Approved	DNM1DN14.2, FLJ45937, DKFZp434I1020	uc021sxl.1	Q6ZS02	OTTHUMG00000149852		15.37:g.100331686T>G								NR_003260.1						0	2505	-								Q3ZCN3	RNA	SNP	ENST00000341853.1	37																																																																																						0.537	DNM1P46-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000313543.1	NR_003260		4	19	0	0	0	0.001168	0	4	19				
WDR34	89891	broad.mit.edu	37	9	131397416	131397416	+	Silent	SNP	G	G	A	rs570806137		TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr9:131397416G>A	ENST00000372715.2	-	6	996	c.936C>T	c.(934-936)ttC>ttT	p.F312F	WDR34_ENST00000483181.1_5'UTR	NM_052844.3	NP_443076.2	Q96EX3	WDR34_HUMAN	WD repeat domain 34	312						axoneme (GO:0005930)|centriole (GO:0005814)|ciliary basal body (GO:0036064)				central_nervous_system(2)|lung(5)|skin(1)|urinary_tract(1)	9						TGACCAGGGCGAAGCCCTCTG	0.672											OREG0019522	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	G|||	1	0.000199681	0.0	0.0	5008	,	,		17459	0.0		0.0	False		,,,				2504	0.001					ENST00000372715.2																			0				central_nervous_system(2)|lung(5)|skin(1)|urinary_tract(1)	9						c.(934-936)ttC>ttT		WD repeat domain 34							44.0	43.0	44.0					9																	131397416		2203	4300	6503	SO:0001819	synonymous_variant	89891					cytoplasm		g.chr9:131397416G>A	BC011874	CCDS6906.2	9q34.11	2013-11-15	2013-02-19	2013-02-19	ENSG00000119333	ENSG00000119333		"""WD repeat domain containing"""	28296	protein-coding gene	gene with protein product		613363				19521662, 21953912, 24183451	Standard	NM_052844		Approved	DIC5, MGC20486, bA216B9.3, FAP133	uc004bvq.1	Q96EX3	OTTHUMG00000020750	ENST00000372715.2:c.936C>T	9.37:g.131397416G>A			OREG0019522	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1587	WDR34_ENST00000483181.1_5'UTR	p.F312F	NM_052844.3	NP_443076.2	Q96EX3	WDR34_HUMAN			6	996	-			312					Q5VXV4|Q9BV46	Silent	SNP	ENST00000372715.2	37	c.936C>T	CCDS6906.2																																																																																				0.672	WDR34-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054463.1	NM_052844		13	47	0	0	0	0.001855	0	13	47				
KRTAP10-5	386680	broad.mit.edu	37	21	45999968	45999968	+	Missense_Mutation	SNP	C	C	G			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr21:45999968C>G	ENST00000400372.1	-	1	513	c.488G>C	c.(487-489)tGc>tCc	p.C163S	TSPEAR_ENST00000323084.4_Intron	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN	keratin associated protein 10-5	163	22 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						GGAGGAGGTGCAGCAAGTCGG	0.602																																						ENST00000400372.1																			0				endometrium(2)|kidney(1)|lung(9)|prostate(1)|upper_aerodigestive_tract(1)	14						c.(487-489)tGc>tCc		keratin associated protein 10-5							153.0	157.0	156.0					21																	45999968		2203	4300	6503	SO:0001583	missense	386680					keratin filament		g.chr21:45999968C>G	AJ566384	CCDS42958.1	21q22.3	2007-10-05			ENSG00000241123	ENSG00000241123		"""Keratin associated proteins"""	22969	protein-coding gene	gene with protein product				KRTAP18-5			Standard	NM_198694		Approved	KAP10.5, KAP18.5	uc002zfl.1	P60370	OTTHUMG00000057638	ENST00000400372.1:c.488G>C	21.37:g.45999968C>G	ENSP00000383223:p.Cys163Ser					TSPEAR_ENST00000323084.4_Intron	p.C163S	NM_198694.2	NP_941967.2	P60370	KR105_HUMAN			1	513	-			163			22 X 5 AA repeats of C-C-X(3).		Q0VAR7|Q0VAR8|Q70LJ3	Missense_Mutation	SNP	ENST00000400372.1	37	c.488G>C	CCDS42958.1	.	.	.	.	.	.	.	.	.	.	c	8.169	0.791356	0.16258	.	.	ENSG00000241123	ENST00000400372	T	0.05025	3.51	3.17	3.17	0.36434	.	.	.	.	.	T	0.23451	0.0567	M	0.87269	2.87	0.27865	N	0.940241	D	0.63046	0.992	D	0.63957	0.92	T	0.02698	-1.1122	9	0.49607	T	0.09	.	8.4337	0.32773	0.0:0.7577:0.2423:0.0	.	163	P60370	KR105_HUMAN	S	163	ENSP00000383223:C163S	ENSP00000383223:C163S	C	-	2	0	KRTAP10-5	44824396	0.954000	0.32549	0.655000	0.29622	0.417000	0.31264	2.058000	0.41374	1.761000	0.52028	0.455000	0.32223	TGC		0.602	KRTAP10-5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128042.1			26	163	0	0	0	0.005443	0	26	163				
ZNF786	136051	broad.mit.edu	37	7	148767890	148767890	+	Silent	SNP	C	C	T			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr7:148767890C>T	ENST00000491431.1	-	4	2038	c.1974G>A	c.(1972-1974)gtG>gtA	p.V658V	ZNF786_ENST00000316286.9_Silent_p.V572V|ZNF786_ENST00000451334.3_Silent_p.V621V	NM_152411.3	NP_689624.2	Q8N393	ZN786_HUMAN	zinc finger protein 786	658					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TTGAGTGTTTCACAAAGCCCT	0.572																																						ENST00000316286.9																			0				breast(4)|cervix(1)|kidney(1)|large_intestine(3)|lung(10)|prostate(2)|skin(2)|soft_tissue(1)|urinary_tract(2)	26						c.(1714-1716)gtG>gtA		zinc finger protein 786							65.0	69.0	68.0					7																	148767890		2161	4273	6434	SO:0001819	synonymous_variant	136051				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr7:148767890C>T	AK095701, AL834510	CCDS47738.1	7q36.1	2013-01-08			ENSG00000197362	ENSG00000197362		"""Zinc fingers, C2H2-type"", ""-"""	21806	protein-coding gene	gene with protein product							Standard	NM_152411		Approved	DKFZp762I137	uc003wfh.2	Q8N393	OTTHUMG00000158975	ENST00000491431.1:c.1974G>A	7.37:g.148767890C>T						ZNF786_ENST00000491431.1_Silent_p.V658V|ZNF786_ENST00000451334.3_Silent_p.V621V	p.V572V			Q8N393	ZN786_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)		3	1988	-	Melanoma(164;0.15)		658					A1A568|B4DMI1	Silent	SNP	ENST00000491431.1	37	c.1716G>A	CCDS47738.1																																																																																				0.572	ZNF786-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352751.1	NM_152411		12	88	0	0	0	0.001855	0	12	88				
GRIN2B	2904	broad.mit.edu	37	12	13769559	13769559	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr12:13769559C>T	ENST00000609686.1	-	5	1367	c.1158G>A	c.(1156-1158)atG>atA	p.M386I		NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN	glutamate receptor, ionotropic, N-methyl D-aspartate 2B	386					behavioral fear response (GO:0001662)|behavioral response to pain (GO:0048266)|detection of mechanical stimulus involved in sensory perception of pain (GO:0050966)|glutamate receptor signaling pathway (GO:0007215)|in utero embryonic development (GO:0001701)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|learning (GO:0007612)|learning or memory (GO:0007611)|memory (GO:0007613)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of synaptic plasticity (GO:0048167)|response to ethanol (GO:0045471)|sensory organ development (GO:0007423)|startle response (GO:0001964)|suckling behavior (GO:0001967)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|cell surface (GO:0009986)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143					Acamprosate(DB00659)|Acetylcysteine(DB06151)|Atomoxetine(DB00289)|Felbamate(DB00949)|Gabapentin(DB00996)|Haloperidol(DB00502)|Ketobemidone(DB06738)|Memantine(DB01043)|Milnacipran(DB04896)|Pentobarbital(DB00312)|Pethidine(DB00454)|Phenobarbital(DB01174)|Secobarbital(DB00418)	CATAGTACTTCATCTGCAGGG	0.502																																						ENST00000279593.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(12)|large_intestine(12)|liver(1)|lung(70)|ovary(4)|prostate(6)|skin(10)|upper_aerodigestive_tract(5)|urinary_tract(1)	143						c.(1156-1158)atG>atA		glutamate receptor, ionotropic, N-methyl D-aspartate 2B	Felbamate(DB00949)|Haloperidol(DB00502)|L-Glutamic Acid(DB00142)|Loperamide(DB00836)|Memantine(DB01043)						164.0	152.0	156.0					12																	13769559		2203	4300	6503	SO:0001583	missense	2904				response to ethanol	cell junction|N-methyl-D-aspartate selective glutamate receptor complex|outer membrane-bounded periplasmic space|postsynaptic membrane	glycine binding|N-methyl-D-aspartate selective glutamate receptor activity|zinc ion binding	g.chr12:13769559C>T		CCDS8662.1	12p13.1	2014-07-16			ENSG00000273079			"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4586	protein-coding gene	gene with protein product		138252		NMDAR2B		1350383	Standard	NM_000834		Approved	GluN2B	uc001rbt.2	Q13224	OTTHUMG00000137373	ENST00000609686.1:c.1158G>A	12.37:g.13769559C>T	ENSP00000477455:p.Met386Ile						p.M386I	NM_000834.3	NP_000825.2	Q13224	NMDE2_HUMAN			5	1367	-			386					Q12919|Q13220|Q13225|Q14CU4|Q9UM56	Missense_Mutation	SNP	ENST00000609686.1	37	c.1158G>A	CCDS8662.1	.	.	.	.	.	.	.	.	.	.	C	18.15	3.558937	0.65538	.	.	ENSG00000150086	ENST00000279593	T	0.05199	3.48	5.52	5.52	0.82312	.	0.000000	0.85682	D	0.000000	T	0.10294	0.0252	L	0.39898	1.24	0.80722	D	1	B	0.33807	0.426	B	0.38225	0.268	T	0.08472	-1.0720	10	0.52906	T	0.07	.	19.4461	0.94847	0.0:1.0:0.0:0.0	.	386	Q13224	NMDE2_HUMAN	I	386	ENSP00000279593:M386I	ENSP00000279593:M386I	M	-	3	0	GRIN2B	13660826	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	5.994000	0.70623	2.575000	0.86900	0.557000	0.71058	ATG		0.502	GRIN2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268014.2			11	67	0	0	0	0.013537	0	11	67				
SLC33A1	9197	broad.mit.edu	37	3	155571317	155571317	+	Missense_Mutation	SNP	T	T	C	rs375098848		TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr3:155571317T>C	ENST00000392845.3	-	1	850	c.470A>G	c.(469-471)tAt>tGt	p.Y157C	SLC33A1_ENST00000359479.3_Missense_Mutation_p.Y157C|SLC33A1_ENST00000460729.1_5'Flank			O00400	ACATN_HUMAN	solute carrier family 33 (acetyl-CoA transporter), member 1	157					acetyl-CoA transport (GO:0015876)|cell death (GO:0008219)|transmembrane transport (GO:0055085)|transport (GO:0006810)	endoplasmic reticulum membrane (GO:0005789)|Golgi membrane (GO:0000139)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	acetyl-CoA transporter activity (GO:0008521)			endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22			Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)			AGTGGATAAATAGATCATGAA	0.488																																						ENST00000392845.2																			0				endometrium(1)|kidney(3)|large_intestine(6)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	22						c.(469-471)tAt>tGt		solute carrier family 33 (acetyl-CoA transporter), member 1		T	CYS/TYR,CYS/TYR	1,4405	2.1+/-5.4	0,1,2202	60.0	63.0	62.0		470,470	4.2	0.0	3		62	0,8600		0,0,4300	no	missense,missense	SLC33A1	NM_001190992.1,NM_004733.3	194,194	0,1,6502	CC,CT,TT		0.0,0.0227,0.0077	possibly-damaging,possibly-damaging	157/550,157/550	155571317	1,13005	2203	4300	6503	SO:0001583	missense	9197				cell death|transmembrane transport	endoplasmic reticulum membrane|Golgi membrane|integral to plasma membrane|membrane fraction	acetyl-CoA transporter activity	g.chr3:155571317T>C	D88152	CCDS3173.1	3q25.31	2013-05-22		2002-12-06	ENSG00000169359	ENSG00000169359		"""Solute carriers"""	95	protein-coding gene	gene with protein product		603690	"""acetyl-Coenzyme A transporter"", ""spastic paraplegia 42 (autosomal dominant)"""	ACATN, SPG42		9096318, 19061983	Standard	NM_004733		Approved	AT-1, AT1	uc003fao.2	O00400	OTTHUMG00000158481	ENST00000392845.3:c.470A>G	3.37:g.155571317T>C	ENSP00000376587:p.Tyr157Cys					SLC33A1_ENST00000359479.3_Missense_Mutation_p.Y157C	p.Y157C	NM_004733.3	NP_004724.1	O00400	ACATN_HUMAN	Lung(72;0.11)|LUSC - Lung squamous cell carcinoma(72;0.114)		1	850	-			157					B2R5Q2|D3DNK4	Missense_Mutation	SNP	ENST00000392845.3	37	c.470A>G	CCDS3173.1	.	.	.	.	.	.	.	.	.	.	T	11.73	1.726533	0.30593	2.27E-4	0.0	ENSG00000169359	ENST00000392845;ENST00000359479	T;T	0.80566	-1.39;-1.39	5.42	4.23	0.50019	Major facilitator superfamily domain, general substrate transporter (1);	0.112487	0.64402	D	0.000006	T	0.72003	0.3407	L	0.37800	1.135	0.80722	D	1	B	0.06786	0.001	B	0.15052	0.012	T	0.66356	-0.5944	10	0.45353	T	0.12	-6.4082	11.8536	0.52425	0.1312:0.0:0.0:0.8688	.	157	O00400	ACATN_HUMAN	C	157	ENSP00000376587:Y157C;ENSP00000352456:Y157C	ENSP00000352456:Y157C	Y	-	2	0	SLC33A1	157054011	0.289000	0.24334	0.011000	0.14972	0.671000	0.39405	1.251000	0.32862	0.967000	0.38186	0.529000	0.55759	TAT		0.488	SLC33A1-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351130.3	NM_004733		3	59	0	0	0	0.009096	0	3	59				
GRIK1	2897	broad.mit.edu	37	21	30961208	30961208	+	Missense_Mutation	SNP	T	T	G			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr21:30961208T>G	ENST00000399907.1	-	11	1931	c.1520A>C	c.(1519-1521)cAg>cCg	p.Q507P	GRIK1_ENST00000309434.7_Missense_Mutation_p.Q509P|GRIK1_ENST00000399909.1_Missense_Mutation_p.Q492P|GRIK1_ENST00000389125.3_Missense_Mutation_p.Q492P|GRIK1_ENST00000535441.1_Missense_Mutation_p.Q509P|GRIK1_ENST00000399913.1_Missense_Mutation_p.Q507P|GRIK1_ENST00000327783.4_Missense_Mutation_p.Q507P|GRIK1_ENST00000399914.1_Missense_Mutation_p.Q492P|GRIK1_ENST00000389124.2_Missense_Mutation_p.Q507P	NM_000830.3	NP_000821.1	P39086	GRIK1_HUMAN	glutamate receptor, ionotropic, kainate 1	507					adult behavior (GO:0030534)|behavioral response to pain (GO:0048266)|central nervous system development (GO:0007417)|glutamate receptor signaling pathway (GO:0007215)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|nervous system development (GO:0007399)|positive regulation of gamma-aminobutyric acid secretion (GO:0014054)|positive regulation of synaptic transmission, GABAergic (GO:0032230)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of synaptic transmission, glutamatergic (GO:0051966)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45					Topiramate(DB00273)	TTTGTCATTCTGGGCCCCATA	0.368																																						ENST00000399914.1																			0				NS(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(11)|lung(18)|ovary(1)|prostate(4)|skin(1)|stomach(1)|urinary_tract(1)	45						c.(1474-1476)cAg>cCg		glutamate receptor, ionotropic, kainate 1	L-Glutamic Acid(DB00142)|Topiramate(DB00273)						161.0	155.0	157.0					21																	30961208		2203	4300	6503	SO:0001583	missense	2897				central nervous system development|synaptic transmission	cell junction|postsynaptic membrane	kainate selective glutamate receptor activity	g.chr21:30961208T>G		CCDS33530.1, CCDS42913.1	21q22	2012-08-29			ENSG00000171189	ENSG00000171189		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4579	protein-coding gene	gene with protein product		138245		GLUR5		8468067	Standard	XM_005260942		Approved	GluK1	uc002yno.1	P39086	OTTHUMG00000078879	ENST00000399907.1:c.1520A>C	21.37:g.30961208T>G	ENSP00000382791:p.Gln507Pro					GRIK1_ENST00000389124.2_Missense_Mutation_p.Q507P|GRIK1_ENST00000309434.7_Missense_Mutation_p.Q509P|GRIK1_ENST00000399909.1_Missense_Mutation_p.Q492P|GRIK1_ENST00000399907.1_Missense_Mutation_p.Q507P|GRIK1_ENST00000389125.3_Missense_Mutation_p.Q492P|GRIK1_ENST00000399913.1_Missense_Mutation_p.Q507P|GRIK1_ENST00000535441.1_Missense_Mutation_p.Q509P|GRIK1_ENST00000327783.4_Missense_Mutation_p.Q507P	p.Q492P			P39086	GRIK1_HUMAN			10	1996	-			507					Q13001|Q86SU9	Missense_Mutation	SNP	ENST00000399907.1	37	c.1475A>C	CCDS42913.1	.	.	.	.	.	.	.	.	.	.	T	13.28	2.191530	0.38707	.	.	ENSG00000171189	ENST00000327783;ENST00000389125;ENST00000399913;ENST00000399914;ENST00000535441;ENST00000389124;ENST00000399907;ENST00000399909;ENST00000309434	T;T;T;T;T;T;T;T;T	0.77229	-1.08;-1.08;-1.08;-1.08;-1.08;-1.08;-1.08;-1.08;-1.08	4.95	4.95	0.65309	Glutamate receptor, L-glutamate/glycine-binding (2);Ionotropic glutamate receptor (1);	0.049306	0.85682	D	0.000000	T	0.67107	0.2858	N	0.26162	0.8	0.80722	D	1	B;B;B;B	0.06786	0.001;0.0;0.001;0.001	B;B;B;B	0.17098	0.017;0.003;0.017;0.01	T	0.62469	-0.6848	10	0.32370	T	0.25	.	14.7296	0.69372	0.0:0.0:0.0:1.0	.	507;492;507;492	E9PD61;E7EPZ0;P39086;P39086-2	.;.;GRIK1_HUMAN;.	P	507;492;507;492;509;507;507;492;509	ENSP00000327687:Q507P;ENSP00000373777:Q492P;ENSP00000382797:Q507P;ENSP00000382798:Q492P;ENSP00000446326:Q509P;ENSP00000373776:Q507P;ENSP00000382791:Q507P;ENSP00000382793:Q492P;ENSP00000311646:Q509P	ENSP00000311646:Q509P	Q	-	2	0	GRIK1	29883079	1.000000	0.71417	0.997000	0.53966	0.901000	0.52897	6.080000	0.71299	2.191000	0.70037	0.528000	0.53228	CAG		0.368	GRIK1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000171979.1			15	78	0	0	0	0.006122	0	15	78				
PKHD1	5314	broad.mit.edu	37	6	51613023	51613023	+	Missense_Mutation	SNP	G	G	A			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr6:51613023G>A	ENST00000371117.3	-	58	9666	c.9391C>T	c.(9391-9393)Cat>Tat	p.H3131Y	PKHD1_ENST00000340994.4_Missense_Mutation_p.H3131Y	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN	polycystic kidney and hepatic disease 1 (autosomal recessive)	3131					cellular calcium ion homeostasis (GO:0006874)|cilium assembly (GO:0042384)|homeostatic process (GO:0042592)|kidney development (GO:0001822)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cellular component movement (GO:0051271)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein kinase B signaling (GO:0051898)|positive regulation of cell proliferation (GO:0008284)|regulation of centrosome duplication (GO:0010824)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of TOR signaling (GO:0032006)|single organismal cell-cell adhesion (GO:0016337)	anchored component of external side of plasma membrane (GO:0031362)|apical plasma membrane (GO:0016324)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|mitotic spindle (GO:0072686)|perinuclear region of cytoplasm (GO:0048471)|primary cilium (GO:0072372)	receptor activity (GO:0004872)			NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304	Lung NSC(77;0.0605)					TTATAGAGATGAAGGCCATGA	0.458																																						ENST00000371117.3																			0				NS(1)|autonomic_ganglia(1)|breast(8)|central_nervous_system(5)|cervix(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(11)|large_intestine(59)|lung(139)|ovary(16)|prostate(8)|skin(20)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(7)|urinary_tract(5)	304						c.(9391-9393)Cat>Tat		polycystic kidney and hepatic disease 1 (autosomal recessive)							217.0	221.0	220.0					6																	51613023		2203	4300	6503	SO:0001583	missense	5314				cell-cell adhesion|cilium assembly|homeostatic process|kidney development|negative regulation of cellular component movement	anchored to external side of plasma membrane|apical plasma membrane|integral to membrane|microtubule basal body	protein binding|receptor activity	g.chr6:51613023G>A	AF480064	CCDS4935.1, CCDS4936.1	6p21.2-p12	2012-11-26	2003-04-16		ENSG00000170927	ENSG00000170927			9016	protein-coding gene	gene with protein product	"""tigmin"", ""polyductin"", ""fibrocystin"""	606702	"""TIG multiple domains 1"""	TIGM1		9503014	Standard	NM_138694		Approved	ARPKD, FCYT	uc003pah.1	P08F94	OTTHUMG00000014841	ENST00000371117.3:c.9391C>T	6.37:g.51613023G>A	ENSP00000360158:p.His3131Tyr					PKHD1_ENST00000340994.4_Missense_Mutation_p.H3131Y	p.H3131Y	NM_138694.3	NP_619639.3	P08F94	PKHD1_HUMAN			58	9666	-	Lung NSC(77;0.0605)		3131					Q5VUA2|Q5VUA3|Q5VWV1|Q86Z26|Q8TCZ9	Missense_Mutation	SNP	ENST00000371117.3	37	c.9391C>T	CCDS4935.1	.	.	.	.	.	.	.	.	.	.	G	13.45	2.239641	0.39598	.	.	ENSG00000170927	ENST00000371117;ENST00000340994;ENST00000393616	T;T	0.77877	-1.13;-1.13	5.86	5.86	0.93980	Pectin lyase fold/virulence factor (1);Pectin lyase fold (1);	0.000000	0.85682	D	0.000000	T	0.75606	0.3872	L	0.40543	1.245	0.40646	D	0.981992	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.997;0.999;0.998	T	0.70360	-0.4893	10	0.02654	T	1	.	19.1901	0.93663	0.0:0.0:1.0:0.0	.	3131;3131;3131	A8MVM9;P08F94-2;P08F94	.;.;PKHD1_HUMAN	Y	3131	ENSP00000360158:H3131Y;ENSP00000341097:H3131Y	ENSP00000341097:H3131Y	H	-	1	0	PKHD1	51720982	1.000000	0.71417	1.000000	0.80357	0.417000	0.31264	6.432000	0.73400	2.776000	0.95493	0.655000	0.94253	CAT		0.458	PKHD1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040893.1	NM_138694		5	292	0	0	0	0.001168	0	5	292				
ZFPM1	161882	broad.mit.edu	37	16	88600417	88600417	+	Missense_Mutation	SNP	T	T	A			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr16:88600417T>A	ENST00000319555.3	+	10	2373	c.2051T>A	c.(2050-2052)cTg>cAg	p.L684Q	RP11-21B21.4_ENST00000563243.1_RNA	NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN	zinc finger protein, FOG family member 1	684					atrial septum morphogenesis (GO:0060413)|atrioventricular valve morphogenesis (GO:0003181)|blood coagulation (GO:0007596)|cardiac muscle tissue morphogenesis (GO:0055008)|definitive erythrocyte differentiation (GO:0060318)|embryonic hemopoiesis (GO:0035162)|erythrocyte differentiation (GO:0030218)|granulocyte differentiation (GO:0030851)|megakaryocyte development (GO:0035855)|megakaryocyte differentiation (GO:0030219)|mitral valve formation (GO:0003192)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of interleukin-4 biosynthetic process (GO:0045403)|negative regulation of mast cell differentiation (GO:0060377)|negative regulation of protein binding (GO:0032091)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|outflow tract morphogenesis (GO:0003151)|platelet formation (GO:0030220)|positive regulation of interferon-gamma biosynthetic process (GO:0045078)|primitive erythrocyte differentiation (GO:0060319)|regulation of chemokine production (GO:0032642)|regulation of definitive erythrocyte differentiation (GO:0010724)|T-helper cell lineage commitment (GO:0002295)|transcriptional activation by promoter-enhancer looping (GO:0071733)|tricuspid valve formation (GO:0003195)|ventricular septum morphogenesis (GO:0060412)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|transcription factor complex (GO:0005667)|transcriptional repressor complex (GO:0017053)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II transcription factor binding (GO:0001085)|transcription factor binding (GO:0008134)			central_nervous_system(1)|ovary(2)|urinary_tract(1)	4				BRCA - Breast invasive adenocarcinoma(80;0.0478)		AGCCGCACGCTGTGCGAGGCC	0.756																																					Pancreas(49;850 1106 29641 32847 38344)	ENST00000319555.3																			0				central_nervous_system(1)|ovary(2)|urinary_tract(1)	4						c.(2050-2052)cTg>cAg		zinc finger protein, FOG family member 1							5.0	5.0	5.0					16																	88600417		1631	3428	5059	SO:0001583	missense	161882				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	DNA binding|transcription factor binding|zinc ion binding	g.chr16:88600417T>A	AF488691	CCDS32502.1	16q24.2	2013-01-10	2012-11-27		ENSG00000179588	ENSG00000179588		"""Zinc fingers, C2H2-type"", ""Zinc fingers, C2HC-type containing"""	19762	protein-coding gene	gene with protein product		601950	"""zinc finger protein, multitype 1"""				Standard	NM_153813		Approved	FOG1, FOG, ZNF89A, ZC2HC11A	uc002fkv.3	Q8IX07	OTTHUMG00000173152	ENST00000319555.3:c.2051T>A	16.37:g.88600417T>A	ENSP00000326630:p.Leu684Gln						p.L684Q	NM_153813.2	NP_722520.2	Q8IX07	FOG1_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0478)	10	2373	+			684						Missense_Mutation	SNP	ENST00000319555.3	37	c.2051T>A	CCDS32502.1	.	.	.	.	.	.	.	.	.	.	t	10.86	1.468902	0.26335	.	.	ENSG00000179588	ENST00000319555	T	0.29655	1.56	3.01	3.01	0.34805	Zinc finger, C2H2-like (1);	0.279397	0.29884	U	0.010949	T	0.35219	0.0924	L	0.36672	1.1	0.30520	N	0.768526	D	0.61697	0.99	P	0.56343	0.796	T	0.23297	-1.0192	10	0.45353	T	0.12	.	10.3204	0.43762	0.0:0.0:0.0:1.0	.	684	Q8IX07	FOG1_HUMAN	Q	684	ENSP00000326630:L684Q	ENSP00000326630:L684Q	L	+	2	0	ZFPM1	87127918	0.009000	0.17119	1.000000	0.80357	0.767000	0.43475	0.468000	0.22051	1.159000	0.42565	0.130000	0.15844	CTG		0.756	ZFPM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422270.2			3	11	0	0	0	0.004672	0	3	11				
EVPL	2125	broad.mit.edu	37	17	74005905	74005905	+	Missense_Mutation	SNP	G	G	C			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr17:74005905G>C	ENST00000301607.3	-	22	3634	c.3381C>G	c.(3379-3381)atC>atG	p.I1127M	EVPL_ENST00000586740.1_Missense_Mutation_p.I1149M	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN	envoplakin	1127	Central fibrous rod domain.				epidermis development (GO:0008544)|keratinization (GO:0031424)|keratinocyte differentiation (GO:0030216)|peptide cross-linking (GO:0018149)	cell junction (GO:0030054)|cornified envelope (GO:0001533)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	protein binding, bridging (GO:0030674)|structural molecule activity (GO:0005198)			breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						CCACCGAGCTGATAGCCCGCT	0.642																																						ENST00000301607.3																			0				breast(4)|central_nervous_system(4)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(8)|lung(14)|ovary(2)|pancreas(2)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(4)	54						c.(3379-3381)atC>atG		envoplakin							43.0	44.0	44.0					17																	74005905		2203	4300	6503	SO:0001583	missense	2125				keratinization|peptide cross-linking	cornified envelope|cytoplasm|desmosome	protein binding, bridging|structural molecule activity	g.chr17:74005905G>C	U53786	CCDS11737.1	17q25	2008-07-18				ENSG00000167880			3503	protein-coding gene	gene with protein product		601590				8938451, 10409435	Standard	NM_001988		Approved	EVPK	uc002jqi.2	Q92817		ENST00000301607.3:c.3381C>G	17.37:g.74005905G>C	ENSP00000301607:p.Ile1127Met					EVPL_ENST00000586740.1_Missense_Mutation_p.I1149M	p.I1127M	NM_001988.2	NP_001979.2	Q92817	EVPL_HUMAN			22	3634	-			1127			Central fibrous rod domain.		A0AUV5	Missense_Mutation	SNP	ENST00000301607.3	37	c.3381C>G	CCDS11737.1	.	.	.	.	.	.	.	.	.	.	G	10.88	1.474426	0.26423	.	.	ENSG00000167880	ENST00000301607	T	0.41400	1.0	5.17	5.17	0.71159	.	0.050671	0.85682	D	0.000000	T	0.59622	0.2207	M	0.76002	2.32	0.42281	D	0.99209	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.972	T	0.63180	-0.6695	10	0.56958	D	0.05	-29.1466	6.7456	0.23460	0.2212:0.0:0.7788:0.0	.	1149;1127	B7ZLH8;Q92817	.;EVPL_HUMAN	M	1127	ENSP00000301607:I1127M	ENSP00000301607:I1127M	I	-	3	3	EVPL	71517500	1.000000	0.71417	0.204000	0.23530	0.036000	0.12997	2.331000	0.43894	2.419000	0.82065	0.491000	0.48974	ATC		0.642	EVPL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000449483.1	NM_001988		18	39	0	0	0	0.004990	0	18	39				
ZNF528	84436	broad.mit.edu	37	19	52919958	52919958	+	Missense_Mutation	SNP	C	C	G			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr19:52919958C>G	ENST00000360465.3	+	7	2279	c.1853C>G	c.(1852-1854)tCt>tGt	p.S618C	ZNF528_ENST00000391788.2_3'UTR	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN	zinc finger protein 528	618					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39				GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)		AGTCACAATTCTGACCTTGCA	0.418																																						ENST00000360465.3																			0				breast(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(6)|ovary(1)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(2)	39						c.(1852-1854)tCt>tGt		zinc finger protein 528							62.0	60.0	60.0					19																	52919958		2203	4300	6503	SO:0001583	missense	84436				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:52919958C>G	AB058730	CCDS33091.1	19q13	2013-01-08			ENSG00000167555	ENSG00000167555		"""Zinc fingers, C2H2-type"", ""-"""	29384	protein-coding gene	gene with protein product		615580				11347906	Standard	NM_032423		Approved	KIAA1827	uc002pzh.3	Q3MIS6	OTTHUMG00000156494	ENST00000360465.3:c.1853C>G	19.37:g.52919958C>G	ENSP00000353652:p.Ser618Cys					ZNF528_ENST00000391788.2_3'UTR	p.S618C	NM_032423.2	NP_115799.2	Q3MIS6	ZN528_HUMAN		GBM - Glioblastoma multiforme(134;0.00249)|OV - Ovarian serous cystadenocarcinoma(262;0.00817)	7	2279	+			618					B3KPN4|Q86T88|Q96JK0	Missense_Mutation	SNP	ENST00000360465.3	37	c.1853C>G	CCDS33091.1	.	.	.	.	.	.	.	.	.	.	C	10.82	1.459332	0.26248	.	.	ENSG00000167555	ENST00000360465	T	0.33654	1.4	1.58	1.58	0.23477	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.59459	0.2195	M	0.83852	2.665	0.09310	N	1	D	0.71674	0.998	D	0.77557	0.99	T	0.46624	-0.9178	9	0.72032	D	0.01	.	10.0797	0.42381	0.0:1.0:0.0:0.0	.	618	Q3MIS6	ZN528_HUMAN	C	618	ENSP00000353652:S618C	ENSP00000353652:S618C	S	+	2	0	ZNF528	57611770	0.000000	0.05858	0.003000	0.11579	0.002000	0.02628	-0.188000	0.09642	0.842000	0.35045	0.491000	0.48974	TCT		0.418	ZNF528-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344336.1	NM_032423		8	47	0	0	0	0.006214	0	8	47				
PPIG	9360	broad.mit.edu	37	2	170493789	170493789	+	Missense_Mutation	SNP	C	C	T			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr2:170493789C>T	ENST00000260970.3	+	14	2241	c.2021C>T	c.(2020-2022)tCa>tTa	p.S674L	PPIG_ENST00000448752.2_Missense_Mutation_p.S674L|PPIG_ENST00000409714.3_Missense_Mutation_p.S659L	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN	peptidylprolyl isomerase G (cyclophilin G)	674					protein folding (GO:0006457)|RNA splicing (GO:0008380)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cyclosporin A binding (GO:0016018)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|poly(A) RNA binding (GO:0044822)			NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43					L-Proline(DB00172)	CATAATAGCTCAAATAACAGC	0.348																																						ENST00000260970.3																			0				NS(2)|breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|liver(1)|lung(17)|ovary(2)|stomach(1)|urinary_tract(1)	43						c.(2020-2022)tCa>tTa		peptidylprolyl isomerase G (cyclophilin G)	L-Proline(DB00172)						69.0	73.0	72.0					2																	170493789		2203	4300	6503	SO:0001583	missense	9360				protein folding|RNA splicing	nuclear matrix|nuclear speck	cyclosporin A binding|peptidyl-prolyl cis-trans isomerase activity	g.chr2:170493789C>T	X99717	CCDS2235.1	2q31.1	2010-07-23	2006-01-12		ENSG00000138398	ENSG00000138398	6.1.1.16		14650	protein-coding gene	gene with protein product	"""SR-related CTD-associated factor 10"""	606093	"""peptidyl-prolyl isomerase G (cyclophilin G)"""			8973360, 9153302	Standard	NM_004792		Approved	CARS-Cyp, SRCyp, SCAF10	uc002uez.3	Q13427	OTTHUMG00000132206	ENST00000260970.3:c.2021C>T	2.37:g.170493789C>T	ENSP00000260970:p.Ser674Leu					PPIG_ENST00000409714.3_Missense_Mutation_p.S659L|PPIG_ENST00000448752.2_Missense_Mutation_p.S674L	p.S674L	NM_004792.2	NP_004783.2	Q13427	PPIG_HUMAN			14	2241	+			674					D3DPC5|D3DPC6|O00706|Q53R40|Q53SN4|Q96DG9	Missense_Mutation	SNP	ENST00000260970.3	37	c.2021C>T	CCDS2235.1	.	.	.	.	.	.	.	.	.	.	C	15.72	2.917384	0.52546	.	.	ENSG00000138398	ENST00000260970;ENST00000409714;ENST00000448752	T;T;T	0.16597	2.33;2.33;2.33	5.76	4.84	0.62591	.	0.648698	0.15601	N	0.253911	T	0.12178	0.0296	N	0.08118	0	0.33066	D	0.534732	B;B;B	0.19817	0.039;0.039;0.039	B;B;B	0.17433	0.018;0.018;0.018	T	0.13415	-1.0510	10	0.72032	D	0.01	-0.1778	18.4394	0.90660	0.0:0.8724:0.1276:0.0	.	659;659;674	E9PG73;Q2NKQ6;Q13427	.;.;PPIG_HUMAN	L	674;659;674	ENSP00000260970:S674L;ENSP00000386245:S659L;ENSP00000407083:S674L	ENSP00000260970:S674L	S	+	2	0	PPIG	170202035	1.000000	0.71417	0.997000	0.53966	0.829000	0.46940	3.781000	0.55394	2.724000	0.93272	0.491000	0.48974	TCA		0.348	PPIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255264.2			16	51	0	0	0	0.004990	0	16	51				
GIMAP5	55340	broad.mit.edu	37	7	150439358	150439358	+	Missense_Mutation	SNP	G	G	T			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr7:150439358G>T	ENST00000358647.3	+	3	498	c.131G>T	c.(130-132)gGg>gTg	p.G44V	GIMAP5_ENST00000479556.1_3'UTR	NM_018384.4	NP_060854.2	Q96F15	GIMA5_HUMAN	GTPase, IMAP family member 5	44	AIG1-type G.				myeloid dendritic cell differentiation (GO:0043011)|negative regulation of apoptotic process (GO:0043066)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of lipid catabolic process (GO:0050995)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of T cell activation (GO:0050868)|positive regulation of calcium ion transport into cytosol (GO:0010524)|positive regulation of CD4-positive, CD25-positive, alpha-beta regulatory T cell differentiation (GO:0032831)|positive regulation of gamma-delta T cell differentiation (GO:0045588)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of membrane potential (GO:0045838)|positive regulation of natural killer cell cytokine production (GO:0002729)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|regulation of mitochondrial membrane permeability (GO:0046902)|T cell differentiation (GO:0030217)|T cell homeostasis (GO:0043029)|temperature homeostasis (GO:0001659)	integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrial outer membrane (GO:0005741)	GTP binding (GO:0005525)			central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		AGTGCCACAGGGAACAGCATC	0.527																																						ENST00000358647.3																			0				central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(8)|ovary(1)|prostate(1)|urinary_tract(2)	19						c.(130-132)gGg>gTg		GTPase, IMAP family member 5							85.0	73.0	77.0					7																	150439358		2203	4300	6503	SO:0001583	missense	55340							g.chr7:150439358G>T	AK002158	CCDS5907.1	7q36.1	2014-04-04	2004-10-29	2004-10-30	ENSG00000196329	ENSG00000196329		"""GTPases, IMAP"""	18005	protein-coding gene	gene with protein product	"""immune-associated nucleotide-binding protein 5"""	608086	"""immune associated nucleotide 4 like 1 (mouse)"""	IAN4L1			Standard	NM_018384		Approved	HIMAP3, IAN5		Q96F15	OTTHUMG00000157542	ENST00000358647.3:c.131G>T	7.37:g.150439358G>T	ENSP00000351473:p.Gly44Val					GIMAP5_ENST00000479556.1_3'UTR	p.G44V	NM_018384.4	NP_060854.2			OV - Ovarian serous cystadenocarcinoma(82;0.0145)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	3	498	+								D3DWZ5|Q6IA75|Q96NE4|Q9NUK9	Missense_Mutation	SNP	ENST00000358647.3	37	c.131G>T	CCDS5907.1	.	.	.	.	.	.	.	.	.	.	G	18.54	3.646474	0.67358	.	.	ENSG00000196329	ENST00000358647;ENST00000447239	T	0.30448	1.53	4.35	4.35	0.52113	AIG1 (1);	0.118294	0.56097	D	0.000023	T	0.56819	0.2011	M	0.82630	2.6	0.54753	D	0.999985	D	0.89917	1.0	D	0.87578	0.998	T	0.63211	-0.6688	10	0.87932	D	0	.	12.225	0.54455	0.0:0.0:1.0:0.0	.	44	Q96F15	GIMA5_HUMAN	V	44;80	ENSP00000351473:G44V	ENSP00000351473:G44V	G	+	2	0	GIMAP5	150070291	0.989000	0.36119	0.989000	0.46669	0.985000	0.73830	3.065000	0.49994	2.251000	0.74343	0.655000	0.94253	GGG		0.527	GIMAP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000349108.2	NM_018384		9	52	1	0	1.12685e-05	0.004482	1.33596e-05	9	52				
FCF1	51077	broad.mit.edu	37	14	75190043	75190043	+	Missense_Mutation	SNP	C	C	G			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr14:75190043C>G	ENST00000341162.4	+	5	415	c.361C>G	c.(361-363)Cta>Gta	p.L121V	FCF1_ENST00000553615.1_Missense_Mutation_p.L106V|FCF1_ENST00000534938.2_Missense_Mutation_p.L109V	NM_015962.4	NP_057046.1	Q9Y324	FCF1_HUMAN	FCF1 rRNA-processing protein	121	PINc.				rRNA processing (GO:0006364)	nucleus (GO:0005634)|small-subunit processome (GO:0032040)	poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8				BRCA - Breast invasive adenocarcinoma(234;0.0037)		TCGAGTGGCTCTAAGGTAGGA	0.378																																						ENST00000341162.4																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(4)|ovary(1)	8						c.(361-363)Cta>Gta		FCF1 rRNA-processing protein							107.0	102.0	104.0					14																	75190043		2203	4300	6503	SO:0001583	missense	51077				rRNA processing	nucleolus		g.chr14:75190043C>G	AF132969	CCDS9832.1	14q24.2	2013-05-03	2013-05-03	2007-01-30	ENSG00000119616	ENSG00000119616			20220	protein-coding gene	gene with protein product			"""chromosome 14 open reading frame 111"", ""FCF1 small subunit (SSU) processome component homolog (S. cerevisiae)"""	C14orf111		16762320	Standard	XR_245690		Approved	CGI-35, Bka, UTP24	uc001xqh.3	Q9Y324		ENST00000341162.4:c.361C>G	14.37:g.75190043C>G	ENSP00000344393:p.Leu121Val					FCF1_ENST00000553615.1_Missense_Mutation_p.L106V|FCF1_ENST00000534938.2_Missense_Mutation_p.L109V	p.L121V	NM_015962.4	NP_057046.1	Q9Y324	FCF1_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.0037)	5	415	+			121			PINc.		Q86TW8|Q8TBL8	Missense_Mutation	SNP	ENST00000341162.4	37	c.361C>G	CCDS9832.1	.	.	.	.	.	.	.	.	.	.	C	17.59	3.427017	0.62733	.	.	ENSG00000119616	ENST00000554590;ENST00000341162;ENST00000534938;ENST00000553615	.	.	.	5.39	2.6	0.31112	Nucleotide binding protein, PINc (1);	0.000000	0.85682	D	0.000000	T	0.77003	0.4067	M	0.90252	3.1	0.80722	D	1	D;D	0.67145	0.996;0.957	D;D	0.68039	0.954;0.955	T	0.74300	-0.3710	9	0.62326	D	0.03	.	4.6824	0.12741	0.1459:0.5516:0.0:0.3025	.	121;106	Q9Y324;G3V5S9	FCF1_HUMAN;.	V	32;121;109;106	.	ENSP00000344393:L121V	L	+	1	2	FCF1	74259796	0.913000	0.31002	0.995000	0.50966	0.917000	0.54804	1.800000	0.38833	0.403000	0.25479	-0.136000	0.14681	CTA		0.378	FCF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413622.1	NM_015962		9	32	0	0	0	0.004482	0	9	32				
DMXL2	23312	broad.mit.edu	37	15	51791873	51791873	+	Missense_Mutation	SNP	A	A	G			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr15:51791873A>G	ENST00000251076.5	-	18	3835	c.3548T>C	c.(3547-3549)cTt>cCt	p.L1183P	DMXL2_ENST00000543779.2_Missense_Mutation_p.L1183P|DMXL2_ENST00000449909.3_Intron|RP11-707P17.1_ENST00000561007.1_RNA	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN	Dmx-like 2	1183						cell junction (GO:0030054)|extracellular space (GO:0005615)|membrane (GO:0016020)|synaptic vesicle (GO:0008021)	Rab GTPase binding (GO:0017137)			breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101				all cancers(107;0.00494)		TCCCACTGTAAGAATGTGGGA	0.408																																						ENST00000251076.5																			0				breast(4)|central_nervous_system(1)|cervix(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(26)|liver(1)|lung(28)|ovary(7)|prostate(7)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	101						c.(3547-3549)cTt>cCt		Dmx-like 2							67.0	63.0	64.0					15																	51791873		2195	4293	6488	SO:0001583	missense	23312					cell junction|synaptic vesicle membrane	Rab GTPase binding	g.chr15:51791873A>G	AB020663	CCDS10141.1, CCDS53945.1, CCDS53946.1	15q21.2	2013-01-10			ENSG00000104093	ENSG00000104093		"""WD repeat domain containing"""	2938	protein-coding gene	gene with protein product	"""rabconnectin 3"""	612186					Standard	NM_001174116		Approved	RC3, KIAA0856	uc010ufy.2	Q8TDJ6	OTTHUMG00000131749	ENST00000251076.5:c.3548T>C	15.37:g.51791873A>G	ENSP00000251076:p.Leu1183Pro					DMXL2_ENST00000449909.3_Intron|DMXL2_ENST00000543779.2_Missense_Mutation_p.L1183P	p.L1183P	NM_001174116.1|NM_015263.3	NP_001167587.1|NP_056078.2	Q8TDJ6	DMXL2_HUMAN		all cancers(107;0.00494)	18	3835	-			1183					B2RTR3|B7ZMH3|F5GWF1|O94938	Missense_Mutation	SNP	ENST00000251076.5	37	c.3548T>C	CCDS10141.1	.	.	.	.	.	.	.	.	.	.	A	17.17	3.322367	0.60634	.	.	ENSG00000104093	ENST00000251076;ENST00000543779	T;T	0.61392	0.12;0.11	5.24	5.24	0.73138	.	0.000000	0.85682	D	0.000000	T	0.77123	0.4084	M	0.79805	2.47	0.80722	D	1	D;D	0.89917	1.0;0.999	D;D	0.91635	0.999;0.998	T	0.81035	-0.1115	10	0.87932	D	0	.	15.1326	0.72536	1.0:0.0:0.0:0.0	.	1183;1183	F5GWF1;Q8TDJ6	.;DMXL2_HUMAN	P	1183	ENSP00000251076:L1183P;ENSP00000441858:L1183P	ENSP00000251076:L1183P	L	-	2	0	DMXL2	49579165	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	8.930000	0.92872	1.973000	0.57446	0.482000	0.46254	CTT		0.408	DMXL2-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254671.2	NM_015263		3	40	0	0	0	0.004672	0	3	40				
FAP	2191	broad.mit.edu	37	2	163039925	163039925	+	Splice_Site	SNP	C	C	G			TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr2:163039925C>G	ENST00000188790.4	-	21	2075	c.1868G>C	c.(1867-1869)tGg>tCg	p.W623S	FAP_ENST00000443424.1_Splice_Site_p.W598S	NM_004460.2	NP_004451.2			fibroblast activation protein, alpha											NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						ACAACTCACCCAGCCCCATAT	0.303																																						ENST00000188790.4																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(1)|large_intestine(5)|lung(34)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(4)	63						c.e21+1		fibroblast activation protein, alpha							87.0	95.0	93.0					2																	163039925		2203	4299	6502	SO:0001630	splice_region_variant	2191				endothelial cell migration|negative regulation of extracellular matrix disassembly|proteolysis	cell junction|integral to membrane|invadopodium membrane|lamellipodium membrane	dipeptidyl-peptidase activity|metalloendopeptidase activity|protein homodimerization activity|serine-type endopeptidase activity	g.chr2:163039925C>G	U09278	CCDS33311.1	2q23	2008-02-05			ENSG00000078098	ENSG00000078098			3590	protein-coding gene	gene with protein product	"""seprase"""	600403				9247085, 14707457	Standard	NM_004460		Approved	DPPIV	uc002ucd.3	Q12884	OTTHUMG00000153890	ENST00000188790.4:c.1869+1G>C	2.37:g.163039925C>G						FAP_ENST00000443424.1_Splice_Site_p.W598_splice	p.W623_splice	NM_004460.2	NP_004451.2	Q12884	SEPR_HUMAN			21	2075	-			623						Splice_Site	SNP	ENST00000188790.4	37	c.1869_splice	CCDS33311.1	.	.	.	.	.	.	.	.	.	.	C	19.42	3.823754	0.71143	.	.	ENSG00000078098	ENST00000188790;ENST00000443424	T;T	0.42131	0.98;0.98	5.59	5.59	0.84812	Peptidase S9, prolyl oligopeptidase, catalytic domain (1);	0.000000	0.85682	D	0.000000	T	0.77485	0.4137	H	0.96460	3.825	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.999;1.0;1.0	D	0.84190	0.0444	10	0.72032	D	0.01	-23.6485	19.9507	0.97198	0.0:1.0:0.0:0.0	.	598;102;623	B4DLR2;Q12884-2;Q12884	.;.;SEPR_HUMAN	S	623;598	ENSP00000188790:W623S;ENSP00000411391:W598S	ENSP00000188790:W623S	W	-	2	0	FAP	162748171	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.309000	0.78937	2.763000	0.94921	0.655000	0.94253	TGG		0.303	FAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000332852.2		Missense_Mutation	3	108	0	0	0	0.009096	0	3	108				
ZNF845	91664	broad.mit.edu	37	19	53856730	53856730	+	Silent	SNP	G	G	A	rs201351032	byFrequency	TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr19:53856730G>A	ENST00000595091.1	+	5	3021	c.2802G>A	c.(2800-2802)aaG>aaA	p.K934K	ZNF845_ENST00000458035.1_Silent_p.K934K			Q96IR2	ZN845_HUMAN	zinc finger protein 845	934					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.K934K(3)		endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TAATTCATAAGACAATTCATA	0.368													.|||	271	0.0541134	0.0507	0.0576	5008	,	,		22260	0.0456		0.0924	False		,,,				2504	0.0256					ENST00000458035.1																			3	Substitution - coding silent(3)	p.K934K(3)	kidney(3)	endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(2800-2802)aaG>aaA		zinc finger protein 845																																				SO:0001819	synonymous_variant	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53856730G>A	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.2802G>A	19.37:g.53856730G>A						ZNF845_ENST00000595091.1_Silent_p.K934K	p.K934K	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	2919	+			934						Silent	SNP	ENST00000595091.1	37	c.2802G>A	CCDS46170.1																																																																																				0.368	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		3	29	0	0	0	0.004672	0	3	29				
RNF2	6045	broad.mit.edu	37	1	185060797	185060797	+	Missense_Mutation	SNP	G	G	C	rs144442502		TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr1:185060797G>C	ENST00000367510.3	+	3	462	c.174G>C	c.(172-174)ttG>ttC	p.L58F	RNF2_ENST00000367509.4_Missense_Mutation_p.L58F	NM_007212.3	NP_009143.1	Q99496	RING2_HUMAN	ring finger protein 2	58	Interaction with HIP2.				anterior/posterior axis specification (GO:0009948)|gastrulation with mouth forming second (GO:0001702)|histone H2A monoubiquitination (GO:0035518)|histone H2A-K119 monoubiquitination (GO:0036353)|mitotic cell cycle (GO:0000278)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	euchromatin (GO:0000791)|MLL1 complex (GO:0071339)|nuclear body (GO:0016604)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PcG protein complex (GO:0031519)|PRC1 complex (GO:0035102)|sex chromatin (GO:0001739)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|ligase activity (GO:0016874)|RING-like zinc finger domain binding (GO:0071535)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|large_intestine(4)|lung(3)|skin(2)	14		Breast(1374;0.000496)		Colorectal(1306;6.9e-08)|KIRC - Kidney renal clear cell carcinoma(1967;8.12e-06)		TGGATATGTTGAAGAACACCA	0.388																																						ENST00000367510.3																			0				breast(3)|endometrium(2)|large_intestine(4)|lung(3)|skin(2)	14						c.(172-174)ttG>ttC		ring finger protein 2							201.0	182.0	188.0					1																	185060797		2203	4300	6503	SO:0001583	missense	6045				histone H2A monoubiquitination|transcription, DNA-dependent	MLL1 complex|PcG protein complex|ubiquitin ligase complex	RING-like zinc finger domain binding|zinc ion binding	g.chr1:185060797G>C	BC012583, Y10571	CCDS1365.1	1q25.3	2013-01-09			ENSG00000121481	ENSG00000121481		"""RING-type (C3HC4) zinc fingers"""	10061	protein-coding gene	gene with protein product		608985				11513855	Standard	XM_005245413		Approved	BAP-1, BAP1, DING, HIPI3, RING1B, RING2	uc001grc.1	Q99496	OTTHUMG00000035391	ENST00000367510.3:c.174G>C	1.37:g.185060797G>C	ENSP00000356480:p.Leu58Phe					RNF2_ENST00000367509.4_Missense_Mutation_p.L58F	p.L58F	NM_007212.3	NP_009143.1	Q99496	RING2_HUMAN		Colorectal(1306;6.9e-08)|KIRC - Kidney renal clear cell carcinoma(1967;8.12e-06)	3	462	+		Breast(1374;0.000496)	58			Interaction with HIP2.		B2RBS7|B3KRH1|Q5TEN1|Q5TEN2	Missense_Mutation	SNP	ENST00000367510.3	37	c.174G>C	CCDS1365.1	.	.	.	.	.	.	.	.	.	.	G	19.03	3.747391	0.69533	.	.	ENSG00000121481	ENST00000367510;ENST00000367509;ENST00000453650	T;T;T	0.67523	-0.27;-0.27;-0.27	4.66	2.73	0.32206	Zinc finger, RING/FYVE/PHD-type (1);Zinc finger, RING-type (2);Zinc finger, C3HC4 RING-type (1);	0.000000	0.85682	D	0.000000	T	0.64193	0.2576	N	0.21448	0.665	0.80722	D	1	P;D	0.89917	0.935;1.0	P;D	0.85130	0.78;0.997	T	0.57636	-0.7777	10	0.18710	T	0.47	-21.6729	7.0145	0.24881	0.219:0.1269:0.654:0.0	.	58;58	B3KRH1;Q99496	.;RING2_HUMAN	F	58	ENSP00000356480:L58F;ENSP00000356479:L58F;ENSP00000400722:L58F	ENSP00000356479:L58F	L	+	3	2	RNF2	183327420	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	3.009000	0.49552	0.482000	0.27582	0.650000	0.86243	TTG		0.388	RNF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085793.1	NM_007212		7	141	0	0	0	0.001984	0	7	141				
POTEC	388468	broad.mit.edu	37	18	14513675	14513675	+	Missense_Mutation	SNP	T	T	C	rs371810308	byFrequency	TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr18:14513675T>C	ENST00000358970.5	-	10	1518	c.1519A>G	c.(1519-1521)Aaa>Gaa	p.K507E		NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	507								p.K507E(2)		NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						GAATTCATTTTCTTTTCAGCC	0.284													.|||	3	0.000599042	0.0	0.0	5008	,	,		16953	0.003		0.0	False		,,,				2504	0.0					ENST00000358970.5																			2	Substitution - Missense(2)	p.K507E(2)	urinary_tract(1)|prostate(1)	NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(1519-1521)Aaa>Gaa		POTE ankyrin domain family, member C							164.0	115.0	130.0					18																	14513675		692	1590	2282	SO:0001583	missense	388468							g.chr18:14513675T>C	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.1519A>G	18.37:g.14513675T>C	ENSP00000351856:p.Lys507Glu						p.K507E	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN			10	1518	-			507						Missense_Mutation	SNP	ENST00000358970.5	37	c.1519A>G	CCDS45835.1	.	.	.	.	.	.	.	.	.	.	t	0.001	-3.812128	0.00004	.	.	ENSG00000183206	ENST00000358970	T	0.32753	1.44	1.53	-3.07	0.05363	.	.	.	.	.	T	0.10165	0.0249	N	0.11427	0.14	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.31752	-0.9932	9	0.02654	T	1	.	3.0168	0.06063	0.0:0.3604:0.2511:0.3885	.	507	B2RU33	POTEC_HUMAN	E	507	ENSP00000351856:K507E	ENSP00000351856:K507E	K	-	1	0	POTEC	14503675	0.024000	0.19004	0.012000	0.15200	0.024000	0.10985	-0.021000	0.12504	-1.054000	0.03214	-3.018000	0.00074	AAA		0.284	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		3	91	0	0	0	0.009096	0	3	91				
DCHS1	8642	broad.mit.edu	37	11	6662745	6662746	+	In_Frame_Ins	INS	-	-	CAG	rs376287018|rs372916982|rs370785084|rs56194704		TCGA-ET-A2MY-01A-11D-A18F-08	TCGA-ET-A2MY-11B-11D-A18F-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	0a1dfb93-1d3a-4375-9761-d0855e467838	37a19a61-8465-457c-938e-67993fcc4646	g.chr11:6662745_6662746insCAG	ENST00000299441.3	-	2	510_511	c.99_100insCTG	c.(97-102)ctgggg>ctgCTGggg	p.33_34insL		NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN	dachsous cadherin-related 1	33					branching involved in ureteric bud morphogenesis (GO:0001658)|calcium-dependent cell-cell adhesion (GO:0016339)|cochlea development (GO:0090102)|digestive tract development (GO:0048565)|heart morphogenesis (GO:0003007)|heterophilic cell-cell adhesion (GO:0007157)|hippo signaling (GO:0035329)|homophilic cell adhesion (GO:0007156)|neural tube development (GO:0021915)|neurogenesis (GO:0022008)|ossification involved in bone maturation (GO:0043931)|post-anal tail morphogenesis (GO:0036342)	apical part of cell (GO:0045177)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)	p.L33_G34insL(1)		breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103		Medulloblastoma(188;0.00263)|all_neural(188;0.026)		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		ACCCCAGCCCCcagcagcagca	0.639																																						ENST00000299441.3																			1	Insertion - In frame(1)	p.L33_G34insL(1)	prostate(1)	breast(3)|central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(16)|liver(1)|lung(41)|ovary(4)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(6)|urinary_tract(4)	103						c.(97-102)ctgggc>ctCTGgggc		dachsous cadherin-related 1																																				SO:0001652	inframe_insertion	8642				calcium-dependent cell-cell adhesion|homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr11:6662745_6662746insCAG	AB000895	CCDS7771.1	11p15.4	2013-10-04	2013-10-04	2004-09-03	ENSG00000166341	ENSG00000166341		"""Cadherins / Cadherin-related"""	13681	protein-coding gene	gene with protein product	"""cadherin-related family member 6"""	603057	"""protocadherin 16"", ""dachsous 1 (Drosophila)"""	CDH25, PCDH16		9199196	Standard	XM_005253207		Approved	FIB1, KIAA1773, FLJ11790, CDHR6	uc001mem.1	Q96JQ0	OTTHUMG00000133398	ENST00000299441.3:c.97_99dupCTG	11.37:g.6662752_6662754dupCAG	ENSP00000299441:p.Leu33_Leu33dup						p.33_34LG>LWG	NM_003737.2	NP_003728.1	Q96JQ0	PCD16_HUMAN		Epithelial(150;6.35e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	2	510_511	-		Medulloblastoma(188;0.00263)|all_neural(188;0.026)	33					O15098	In_Frame_Ins	INS	ENST00000299441.3	37	c.99_100insCTG	CCDS7771.1																																																																																				0.639	DCHS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257258.1	NM_003737		2	4						2	4	---	---	---	---
