#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
ANPEP	290	broad.mit.edu	37	15	90349592	90349592	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3ST-01A-11D-A22Z-08	TCGA-EM-A3ST-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c697c70c-6fab-4a19-8ea3-07089ce52e74	d1a1b16d-d9c2-4775-a1a3-0d733a9ca72f	g.chr15:90349592G>A	ENST00000300060.6	-	2	536	c.223C>T	c.(223-225)Cgc>Tgc	p.R75C		NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	alanyl (membrane) aminopeptidase	75	Metalloprotease.				angiogenesis (GO:0001525)|angiotensin maturation (GO:0002003)|cell differentiation (GO:0030154)|cellular protein metabolic process (GO:0044267)|viral process (GO:0016032)	endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)	aminopeptidase activity (GO:0004177)|metallopeptidase activity (GO:0008237)|receptor activity (GO:0004872)|virus receptor activity (GO:0001618)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57	Lung NSC(78;0.0221)|all_lung(78;0.0448)		BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		Ezetimibe(DB00973)|Icatibant(DB06196)	TTGGGGAGGCGGTAACGATTC	0.627																																					NSCLC(30;827 977 2459 19669 26125)	ENST00000300060.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(3)	57						c.(223-225)Cgc>Tgc		alanyl (membrane) aminopeptidase	Ezetimibe(DB00973)						137.0	118.0	124.0					15																	90349592		2200	4299	6499	SO:0001583	missense	290				angiogenesis|cell differentiation|interspecies interaction between organisms	cytosol|ER-Golgi intermediate compartment|integral to plasma membrane	aminopeptidase activity|metallopeptidase activity|receptor activity|zinc ion binding	g.chr15:90349592G>A	M22324	CCDS10356.1	15q25-q26	2008-07-31	2008-07-31		ENSG00000166825	ENSG00000166825	3.4.11.2	"""CD molecules"""	500	protein-coding gene	gene with protein product	"""aminopeptidase N"", ""aminopeptidase M"", ""microsomal aminopeptidase"""	151530		CD13, PEPN		2428842, 1977688	Standard	NM_001150		Approved	LAP1, gp150, p150	uc002bop.4	P15144	OTTHUMG00000149814	ENST00000300060.6:c.223C>T	15.37:g.90349592G>A	ENSP00000300060:p.Arg75Cys						p.R75C	NM_001150.2	NP_001141.2	P15144	AMPN_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0146)|KIRC - Kidney renal clear cell carcinoma(17;0.0286)|Kidney(142;0.0514)|STAD - Stomach adenocarcinoma(125;0.169)		2	536	-	Lung NSC(78;0.0221)|all_lung(78;0.0448)		75			Metalloprotease.		Q16728|Q6GT90|Q8IUK3|Q8IVH3|Q9UCE0	Missense_Mutation	SNP	ENST00000300060.6	37	c.223C>T	CCDS10356.1	.	.	.	.	.	.	.	.	.	.	G	15.69	2.908387	0.52333	.	.	ENSG00000166825	ENST00000300060	T	0.03468	3.92	4.74	4.74	0.60224	.	0.000000	0.85682	D	0.000000	T	0.35740	0.0942	H	0.99404	4.55	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.63963	-0.6518	10	0.87932	D	0	.	15.2194	0.73299	0.0:0.0:1.0:0.0	.	75	P15144	AMPN_HUMAN	C	75	ENSP00000300060:R75C	ENSP00000300060:R75C	R	-	1	0	ANPEP	88150596	1.000000	0.71417	0.996000	0.52242	0.147000	0.21601	3.489000	0.53237	2.180000	0.69256	0.467000	0.42956	CGC		0.627	ANPEP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313425.1			5	71	0	0	0	1	0	5	71				
CC2D1A	54862	broad.mit.edu	37	19	14024093	14024093	+	Missense_Mutation	SNP	G	G	A	rs369479851		TCGA-EM-A3ST-01A-11D-A22Z-08	TCGA-EM-A3ST-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c697c70c-6fab-4a19-8ea3-07089ce52e74	d1a1b16d-d9c2-4775-a1a3-0d733a9ca72f	g.chr19:14024093G>A	ENST00000318003.7	+	5	732	c.491G>A	c.(490-492)cGg>cAg	p.R164Q	CC2D1A_ENST00000589606.1_Missense_Mutation_p.R164Q	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	coiled-coil and C2 domain containing 1A	164					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)	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)|signal transducer activity (GO:0004871)			NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27			OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)			GCCAAGATGCGGCGCTACGAT	0.622																																						ENST00000318003.7																			0				NS(1)|breast(2)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(12)|prostate(2)|skin(2)	27						c.(490-492)cGg>cAg		coiled-coil and C2 domain containing 1A		G	GLN/ARG	0,3982		0,0,1991	26.0	31.0	29.0		491	4.9	1.0	19		29	1,8311		0,1,4155	no	missense	CC2D1A	NM_017721.4	43	0,1,6146	AA,AG,GG		0.012,0.0,0.0081	probably-damaging	164/952	14024093	1,12293	1991	4156	6147	SO:0001583	missense	54862				positive regulation of I-kappaB kinase/NF-kappaB cascade|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleolus|plasma membrane	DNA binding|signal transducer activity	g.chr19:14024093G>A	AF536205	CCDS42512.1	19p13.12	2007-01-08				ENSG00000132024			30237	protein-coding gene	gene with protein product	"""mental retardation, nonsyndromic, autosomal recessive, 3"""	610055				12761501, 16033914	Standard	NM_017721		Approved	FLJ20241, MRT3	uc002mxo.2	Q6P1N0		ENST00000318003.7:c.491G>A	19.37:g.14024093G>A	ENSP00000313601:p.Arg164Gln					CC2D1A_ENST00000589606.1_Missense_Mutation_p.R164Q	p.R164Q	NM_017721.4	NP_060191.3	Q6P1N0	C2D1A_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;3.49e-23)		5	732	+			164					Q7Z435|Q86XV0|Q8NF89|Q9H603|Q9NXI1	Missense_Mutation	SNP	ENST00000318003.7	37	c.491G>A	CCDS42512.1	.	.	.	.	.	.	.	.	.	.	G	34	5.398794	0.96030	0.0	1.2E-4	ENSG00000132024	ENST00000318003;ENST00000254346;ENST00000389233	T	0.28454	1.61	4.91	4.91	0.64330	Domain of unknown function DM14 (1);	0.197786	0.41097	D	0.000944	T	0.60117	0.2244	M	0.84082	2.675	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.996;0.996	T	0.66412	-0.5930	10	0.87932	D	0	-23.5176	17.0205	0.86432	0.0:0.0:1.0:0.0	.	164;164	Q6P1N0-2;Q6P1N0	.;C2D1A_HUMAN	Q	164;2;139	ENSP00000313601:R164Q	ENSP00000254346:R2Q	R	+	2	0	CC2D1A	13885093	1.000000	0.71417	1.000000	0.80357	0.857000	0.48899	7.544000	0.82117	2.551000	0.86045	0.561000	0.74099	CGG		0.622	CC2D1A-001	KNOWN	NAGNAG_splice_site|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000457954.1	NM_017721		15	31	0	0	0	1	0	15	31				
TTN	7273	broad.mit.edu	37	2	179441971	179441971	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EM-A3ST-01A-11D-A22Z-08	TCGA-EM-A3ST-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c697c70c-6fab-4a19-8ea3-07089ce52e74	d1a1b16d-d9c2-4775-a1a3-0d733a9ca72f	g.chr2:179441971C>A	ENST00000591111.1	-	274	64392	c.64168G>T	c.(64168-64170)Gaa>Taa	p.E21390*	TTN_ENST00000589042.1_Nonsense_Mutation_p.E23031*|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.E14158*|TTN_ENST00000342992.6_Nonsense_Mutation_p.E20463*|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN_ENST00000359218.5_Nonsense_Mutation_p.E14091*|TTN_ENST00000460472.2_Nonsense_Mutation_p.E13966*|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000586452.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000592630.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA			Q8WZ42	TITIN_HUMAN	titin	21390	Ig-like 113.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTCACATGTTCCACCTTCGTG	0.448																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(69091-69093)Gaa>Taa		titin							79.0	74.0	75.0					2																	179441971		1957	4160	6117	SO:0001587	stop_gained	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179441971C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.64168G>T	2.37:g.179441971C>A	ENSP00000465570:p.Glu21390*					TTN_ENST00000359218.5_Nonsense_Mutation_p.E14091*|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN_ENST00000342175.6_Nonsense_Mutation_p.E14158*|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000342992.6_Nonsense_Mutation_p.E20463*|TTN_ENST00000460472.2_Nonsense_Mutation_p.E13966*|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000591111.1_Nonsense_Mutation_p.E21390*	p.E23031*	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		324	69315	-			21390			Fibronectin type-III 67.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Nonsense_Mutation	SNP	ENST00000591111.1	37	c.69091G>T		.	.	.	.	.	.	.	.	.	.	C	62	65.873957	0.99991	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.87932	D	0	.	20.0281	0.97530	0.0:1.0:0.0:0.0	.	.	.	.	X	20463;13966;14158;14091;13964	.	ENSP00000340554:E14158X	E	-	1	0	TTN	179150217	1.000000	0.71417	0.992000	0.48379	0.997000	0.91878	7.770000	0.85390	2.818000	0.97014	0.655000	0.94253	GAA		0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		3	29	1	0	0.115264	1	0.115264	3	29				
NRAS	4893	broad.mit.edu	37	1	115256530	115256530	+	Missense_Mutation	SNP	G	G	T	rs121913254		TCGA-EM-A3ST-01A-11D-A22Z-08	TCGA-EM-A3ST-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c697c70c-6fab-4a19-8ea3-07089ce52e74	d1a1b16d-d9c2-4775-a1a3-0d733a9ca72f	g.chr1:115256530G>T	ENST00000369535.4	-	3	434	c.181C>A	c.(181-183)Caa>Aaa	p.Q61K		NM_002524.4	NP_002515.1	P01111	RASN_HUMAN	neuroblastoma RAS viral (v-ras) oncogene homolog	61			Q -> K (in CMNS and NCMS; somatic mutation). {ECO:0000269|PubMed:23392294}.|Q -> R (in CMNS, NCMS and KNEN; also found in lung carcinoma cell and melanoma; dbSNP:rs11554290). {ECO:0000269|PubMed:18633438, ECO:0000269|PubMed:22499344, ECO:0000269|PubMed:23392294, ECO:0000269|PubMed:3276402}.		actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|epidermal growth factor receptor signaling pathway (GO:0007173)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|GTP catabolic process (GO:0006184)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|leukocyte migration (GO:0050900)|MAPK cascade (GO:0000165)|negative regulation of cell differentiation (GO:0045596)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of skeletal muscle tissue development (GO:0048642)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of cell proliferation (GO:0008284)|positive regulation of Rac protein signal transduction (GO:0035022)|Ras protein signal transduction (GO:0007265)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of synaptic transmission, GABAergic (GO:0032228)|small GTPase mediated signal transduction (GO:0007264)|striated muscle cell differentiation (GO:0051146)|visual learning (GO:0008542)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|protein complex binding (GO:0032403)	p.Q61K(595)|p.Q61E(9)|p.Q61L(3)|p.Q61R(2)|p.G60>?(1)		NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)		TACTCTTCTTGTCCAGCTGTA	0.458	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50	Mis		"""melanoma, MM, AML, thyroid"""				Noonan syndrome	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)																												ENST00000369535.4	Q61K(CHP212_AUTONOMIC_GANGLIA)|Q61K(HCC15_LUNG)|Q61K(HS936T_SKIN)|Q61K(HS944T_SKIN)|Q61K(HT1080_SOFT_TISSUE)|Q61K(HUT78_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(M07E_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(NCIH1299_LUNG)|Q61K(NCIH2087_LUNG)|Q61K(OCILY19_HAEMATOPOIETIC_AND_LYMPHOID_TISSUE)|Q61K(SKNAS_AUTONOMIC_GANGLIA)|Q61K(SKNSH_AUTONOMIC_GANGLIA)|Q61K(TYKNU_OVARY)	50		Dom	yes		1	1p13.2	4893	Mis	neuroblastoma RAS viral (v-ras) oncogene homolog			"""L, E"""			"""melanoma, MM, AML, thyroid"""		610	Substitution - Missense(609)|Complex(1)	p.Q61K(595)|p.Q61E(9)|p.Q61L(3)|p.Q61R(2)|p.G60>?(1)	skin(372)|haematopoietic_and_lymphoid_tissue(73)|thyroid(55)|NS(29)|large_intestine(28)|soft_tissue(16)|lung(12)|autonomic_ganglia(6)|liver(3)|upper_aerodigestive_tract(2)|central_nervous_system(2)|cervix(2)|endometrium(2)|pancreas(2)|meninges(1)|kidney(1)|biliary_tract(1)|stomach(1)|ovary(1)|bone(1)	NS(134)|adrenal_gland(9)|autonomic_ganglia(9)|biliary_tract(6)|bone(1)|breast(9)|central_nervous_system(10)|cervix(2)|endometrium(11)|eye(3)|haematopoietic_and_lymphoid_tissue(1115)|kidney(3)|large_intestine(105)|liver(10)|lung(42)|meninges(2)|ovary(7)|pancreas(5)|prostate(8)|skin(1144)|soft_tissue(37)|stomach(5)|testis(8)|thyroid(359)|upper_aerodigestive_tract(28)|urinary_tract(13)	3085						c.(181-183)Caa>Aaa		neuroblastoma RAS viral (v-ras) oncogene homolog							180.0	156.0	164.0					1																	115256530		2203	4300	6503	SO:0001583	missense	4893	Noonan syndrome	Familial Cancer Database	Male Turner syndrome, Pterygium Colli syndrome, incl. Noonan-like/Multiple Giant Cell Lesion syndrome; Noonan s. with multiple lentigines/LEOPARD syndrome	activation of MAPKK activity|axon guidance|blood coagulation|epidermal growth factor receptor signaling pathway|insulin receptor signaling pathway|leukocyte migration|nerve growth factor receptor signaling pathway|Ras protein signal transduction	Golgi membrane|plasma membrane	GTP binding|GTPase activity	g.chr1:115256530G>T	BC005219	CCDS877.1	1p13.2	2014-09-17			ENSG00000213281	ENSG00000213281			7989	protein-coding gene	gene with protein product		164790					Standard	NM_002524		Approved	N-ras	uc009wgu.3	P01111	OTTHUMG00000012059	ENST00000369535.4:c.181C>A	1.37:g.115256530G>T	ENSP00000358548:p.Gln61Lys	TSP Lung(23;0.16)|Multiple Myeloma(1;<1E-6)					p.Q61K	NM_002524.4	NP_002515.1	P01111	RASN_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|COAD - Colon adenocarcinoma(174;0.111)|all cancers(265;0.112)|Epithelial(280;0.124)|LUSC - Lung squamous cell carcinoma(189;0.133)	3	434	-	all_epithelial(7;5.11e-05)|all_lung(7;0.000179)|Lung NSC(6;0.00195)|Lung SC(450;0.211)	all_cancers(81;4.64e-07)|all_epithelial(167;4.2e-07)|all_lung(203;9.97e-06)|Lung NSC(69;1.74e-05)	61		Q -> K (in neuroblastoma cell).|Q -> R (in lung carcinoma cell and melanoma; dbSNP:rs11554290).			Q14971|Q15104|Q15282	Missense_Mutation	SNP	ENST00000369535.4	37	c.181C>A	CCDS877.1	.	.	.	.	.	.	.	.	.	.	G	33	5.255564	0.95336	.	.	ENSG00000213281	ENST00000369535	D	0.83506	-1.73	5.08	5.08	0.68730	Small GTP-binding protein domain (1);	0.000000	0.53938	U	0.000043	D	0.91845	0.7419	H	0.95850	3.73	0.80722	D	1	P	0.51791	0.948	P	0.54759	0.76	D	0.93711	0.7024	10	0.62326	D	0.03	.	18.6626	0.91477	0.0:0.0:1.0:0.0	.	61	P01111	RASN_HUMAN	K	61	ENSP00000358548:Q61K	ENSP00000358548:Q61K	Q	-	1	0	NRAS	115058053	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	9.520000	0.98027	2.624000	0.88883	0.655000	0.94253	CAA		0.458	NRAS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033395.2	NM_002524		55	70	1	0	2.2129e-31	1	2.56982e-31	55	70				
CCDC171	203238	broad.mit.edu	37	9	15579022	15579022	+	Splice_Site	SNP	G	G	A			TCGA-EM-A3ST-01A-11D-A22Z-08	TCGA-EM-A3ST-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c697c70c-6fab-4a19-8ea3-07089ce52e74	d1a1b16d-d9c2-4775-a1a3-0d733a9ca72f	g.chr9:15579022G>A	ENST00000380701.3	+	4	680		c.e4+1		CCDC171_ENST00000535968.1_Splice_Site|CCDC171_ENST00000297641.3_Splice_Site	NM_173550.2	NP_775821.2	Q6TFL3	CC171_HUMAN	coiled-coil domain containing 171																		AAACTCTGTGGTAAGACTGTT	0.443																																						ENST00000380701.3																			0											c.e4+1		coiled-coil domain containing 171							79.0	77.0	77.0					9																	15579022		2203	4300	6503	SO:0001630	splice_region_variant	203238							g.chr9:15579022G>A	AY422473	CCDS6481.1	9p22.2	2012-03-26	2012-03-26	2012-03-26	ENSG00000164989	ENSG00000164989			29828	protein-coding gene	gene with protein product	"""myosin tail domain containing protein"""		"""chromosome 9 open reading frame 93"""	C9orf93		14702039	Standard	NM_173550		Approved	FLJ39267, FLJ46740, Em:AL513423.1, bA778P13.1, bA536D16.1	uc003zmd.3	Q6TFL3	OTTHUMG00000019584	ENST00000380701.3:c.352+1G>A	9.37:g.15579022G>A						CCDC171_ENST00000297641.3_Splice_Site|CCDC171_ENST00000535968.1_Splice_Site		NM_173550.2	NP_775821.2	Q6TFL3	CI093_HUMAN			4	680	+								B7ZM22|Q5SU58|Q6P1W1|Q6ZR13|Q8N1Z4|Q8N8L3|Q8TBR2	Splice_Site	SNP	ENST00000380701.3	37		CCDS6481.1	.	.	.	.	.	.	.	.	.	.	G	15.42	2.827287	0.50739	.	.	ENSG00000164989	ENST00000535968;ENST00000297641;ENST00000380701	.	.	.	5.3	5.3	0.74995	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	17.71	0.88319	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	C9orf93	15569022	1.000000	0.71417	1.000000	0.80357	0.440000	0.31957	5.825000	0.69286	2.477000	0.83638	0.455000	0.32223	.		0.443	CCDC171-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051768.4	NM_173550	Intron	18	26	0	0	0	1	0	18	26				
GPRC5B	51704	broad.mit.edu	37	16	19883141	19883141	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A3ST-01A-11D-A22Z-08	TCGA-EM-A3ST-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c697c70c-6fab-4a19-8ea3-07089ce52e74	d1a1b16d-d9c2-4775-a1a3-0d733a9ca72f	g.chr16:19883141C>A	ENST00000300571.2	-	2	1218	c.1027G>T	c.(1027-1029)Gca>Tca	p.A343S	GPRC5B_ENST00000569847.1_Missense_Mutation_p.A343S|GPRC5B_ENST00000535671.1_Missense_Mutation_p.A343S|GPRC5B_ENST00000537135.1_Missense_Mutation_p.A369S|GPRC5B_ENST00000569479.1_Missense_Mutation_p.A343S	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, class C, group 5, member B	343					glucose homeostasis (GO:0042593)|locomotory behavior (GO:0007626)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein tyrosine kinase activity (GO:0061098)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						ACTTTACCTGCATTGTGTTCA	0.602																																						ENST00000300571.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(1027-1029)Gca>Tca		G protein-coupled receptor, family C, group 5, member B							90.0	88.0	88.0					16																	19883141		2197	4300	6497	SO:0001583	missense	0							g.chr16:19883141C>A	AF202640	CCDS10581.1	16p12	2014-01-30	2014-01-30		ENSG00000167191	ENSG00000167191		"""GPCR / Class C : Orphans"""	13308	protein-coding gene	gene with protein product		605948	"""G protein-coupled receptor, family C, group 1, member B"", ""G protein-coupled receptor, family C, group 5, member B"""			10493829, 10783259	Standard	XM_005255357		Approved	RAIG-2	uc002dgt.3	Q9NZH0	OTTHUMG00000131460	ENST00000300571.2:c.1027G>T	16.37:g.19883141C>A	ENSP00000300571:p.Ala343Ser					GPRC5B_ENST00000569847.1_Missense_Mutation_p.A343S|GPRC5B_ENST00000569479.1_Missense_Mutation_p.A343S|GPRC5B_ENST00000537135.1_Missense_Mutation_p.A369S|GPRC5B_ENST00000535671.1_Missense_Mutation_p.A343S	p.A343S	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN			2	1218	-			343					D2DFB0|O75205|Q8NBZ8	Missense_Mutation	SNP	ENST00000300571.2	37	c.1027G>T	CCDS10581.1	.	.	.	.	.	.	.	.	.	.	C	10.55	1.381091	0.24944	.	.	ENSG00000167191	ENST00000300571;ENST00000535671;ENST00000538074;ENST00000537135	T;T;T	0.27557	1.68;1.67;1.66	4.99	4.02	0.46733	.	0.191190	0.46145	N	0.000310	T	0.25717	0.0626	L	0.48642	1.525	0.53688	D	0.999972	B;B	0.28350	0.208;0.124	B;B	0.20384	0.029;0.02	T	0.04065	-1.0980	9	.	.	.	.	13.4013	0.60885	0.1711:0.8288:0.0:0.0	.	369;343	B7Z831;Q9NZH0	.;GPC5B_HUMAN	S	343;343;192;369	ENSP00000300571:A343S;ENSP00000442858:A343S;ENSP00000441775:A369S	.	A	-	1	0	GPRC5B	19790642	0.938000	0.31826	0.849000	0.33467	0.803000	0.45373	1.961000	0.40432	1.253000	0.44018	0.655000	0.94253	GCA		0.602	GPRC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254285.1			23	49	1	0	7.76418e-22	1	8.73471e-22	23	49				
SEPSECS	51091	broad.mit.edu	37	4	25160718	25160718	+	Silent	SNP	T	T	C	rs565486033		TCGA-EM-A3ST-01A-11D-A22Z-08	TCGA-EM-A3ST-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c697c70c-6fab-4a19-8ea3-07089ce52e74	d1a1b16d-d9c2-4775-a1a3-0d733a9ca72f	g.chr4:25160718T>C	ENST00000382103.2	-	2	198	c.126A>G	c.(124-126)ccA>ccG	p.P42P	SEPSECS_ENST00000302922.3_Intron|PI4K2B_ENST00000512921.1_5'Flank	NM_016955.3	NP_058651.3	Q9HD40	SPCS_HUMAN	Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase	42	Tetramerization.				selenocysteine incorporation (GO:0001514)|selenocysteinyl-tRNA(Sec) biosynthetic process (GO:0097056)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	pyridoxal phosphate binding (GO:0030170)|transferase activity, transferring selenium-containing groups (GO:0016785)|tRNA binding (GO:0000049)			endometrium(1)|large_intestine(4)|lung(2)|stomach(1)	8		Breast(46;0.173)				AGCCATTCTCTGGACACTTGC	0.343																																						ENST00000382103.2																			0				endometrium(1)|large_intestine(4)|lung(2)|stomach(1)	8						c.(124-126)ccA>ccG		Sep (O-phosphoserine) tRNA:Sec (selenocysteine) tRNA synthase	Pyridoxal Phosphate(DB00114)						147.0	123.0	130.0					4																	25160718		692	1591	2283	SO:0001819	synonymous_variant	51091				selenocysteine incorporation	cytoplasm|nucleus	pyridoxal phosphate binding|transferase activity, transferring selenium-containing groups|tRNA binding	g.chr4:25160718T>C	AJ238617	CCDS3432.1, CCDS3432.2	4p15.2	2008-10-27			ENSG00000109618	ENSG00000109618			30605	protein-coding gene	gene with protein product	"""soluble liver antigen/liver pancreas antigen"""	613009				16230358, 10931155, 17142313, 17194211	Standard	NM_016955		Approved	SLA/LP, SLA	uc003grg.3	Q9HD40	OTTHUMG00000128563	ENST00000382103.2:c.126A>G	4.37:g.25160718T>C						SEPSECS_ENST00000302922.3_Intron	p.P42P	NM_016955.3	NP_058651.3	Q9HD40	SPCS_HUMAN			2	198	-		Breast(46;0.173)	42					A8K8W1|Q0D2P3|Q17RT1|Q9NXZ5|Q9UGM9|Q9Y353	Silent	SNP	ENST00000382103.2	37	c.126A>G	CCDS3432.2																																																																																				0.343	SEPSECS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250414.2	NM_016955		10	19	0	0	0	1	0	10	19				
MLLT3	4300	broad.mit.edu	37	9	20414346	20414346	+	Silent	SNP	G	G	A			TCGA-EM-A3ST-01A-11D-A22Z-08	TCGA-EM-A3ST-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c697c70c-6fab-4a19-8ea3-07089ce52e74	d1a1b16d-d9c2-4775-a1a3-0d733a9ca72f	g.chr9:20414346G>A	ENST00000380338.4	-	5	784	c.498C>T	c.(496-498)agC>agT	p.S166S	MLLT3_ENST00000429426.2_Silent_p.S163S|MLLT3_ENST00000355930.6_5'UTR|MLLT3_ENST00000475957.1_5'UTR	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN	myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3	166	Poly-Ser.				anterior/posterior pattern specification (GO:0009952)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|positive regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000096)|regulation of transcription, DNA-templated (GO:0006355)|segment specification (GO:0007379)|transcription, DNA-templated (GO:0006351)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)		p.S166S(4)		central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66				GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)		tgctgctactgctgctgctgc	0.527			T	MLL	ALL																																	ENST00000380338.4				Dom	yes		9	9p22	4300	T	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3 (AF9)"""			L	MLL		ALL		4	Substitution - coding silent(4)	p.S166S(4)	urinary_tract(2)|lung(1)|prostate(1)	central_nervous_system(1)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(6)|lung(24)|ovary(1)|prostate(4)|skin(1)|urinary_tract(7)	66						c.(496-498)agC>agT		myeloid/lymphoid or mixed-lineage leukemia (trithorax homolog, Drosophila); translocated to, 3							8.0	15.0	13.0					9																	20414346		1434	3114	4548	SO:0001819	synonymous_variant	4300				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	protein binding	g.chr9:20414346G>A	L13744	CCDS6494.1	9p22	2008-02-05	2001-11-28		ENSG00000171843	ENSG00000171843			7136	protein-coding gene	gene with protein product		159558	"""myeloid/lymphoid or mixed-lineage leukemia (trithorax (Drosophila) homolog); translocated to, 3"""			8506309, 8414510	Standard	NM_001286691		Approved	AF-9, AF9, YEATS3	uc003zoe.2	P42568	OTTHUMG00000019650	ENST00000380338.4:c.498C>T	9.37:g.20414346G>A						MLLT3_ENST00000429426.2_Silent_p.S163S|MLLT3_ENST00000475957.1_5'UTR|MLLT3_ENST00000355930.6_5'UTR	p.S166S	NM_004529.2	NP_004520.2	P42568	AF9_HUMAN		GBM - Glioblastoma multiforme(3;4.35e-105)|Lung(42;3.48e-06)|LUSC - Lung squamous cell carcinoma(42;7.92e-05)	5	784	-			166			Poly-Ser.		B1AMQ2|B2R7B3|B7Z755|D3DRJ8|Q8IVB0	Silent	SNP	ENST00000380338.4	37	c.498C>T	CCDS6494.1																																																																																				0.527	MLLT3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051872.1	NM_004529		4	53	0	0	0	1	0	4	53				
MST1L	11223	broad.mit.edu	37	1	17084755	17084755	+	RNA	SNP	T	T	C	rs140682808		TCGA-EM-A3ST-01A-11D-A22Z-08	TCGA-EM-A3ST-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c697c70c-6fab-4a19-8ea3-07089ce52e74	d1a1b16d-d9c2-4775-a1a3-0d733a9ca72f	g.chr1:17084755T>C	ENST00000455405.2	-	0	261							Q2TV78	MST1L_HUMAN	macrophage stimulating 1-like							extracellular region (GO:0005576)	serine-type endopeptidase activity (GO:0004252)										ACTGCTCCTTTACTAGAGACC	0.577																																						ENST00000455405.2																			0																																																			0							g.chr1:17084755T>C	U28055, AF083416		1p36.33	2013-03-27	2012-11-09	2012-11-09	ENSG00000186715	ENSG00000186715			7390	other	unknown			"""macrophage stimulating, pseudogene 7"", ""macrophage stimulating, pseudogene 9"", ""macrophage stimulating 1 (hepatocyte growth factor-like) pseudogene 9"""	MSTP7, MSTP9, MST1P9		10728827	Standard	NM_001271733		Approved	D1F15S1A, MSPL7, MSPL-7	uc010ock.3	Q2TV78	OTTHUMG00000002578		1.37:g.17084755T>C														0	261	-								B7WPB1|Q13209	RNA	SNP	ENST00000455405.2	37																																																																																						0.577	MST1L-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000400328.1	NM_001271733		6	12	0	0	0	1	0	6	12				
RP11-423O2.5	0	broad.mit.edu	37	1	142803543	142803543	+	lincRNA	SNP	C	C	T			TCGA-EM-A3ST-01A-11D-A22Z-08	TCGA-EM-A3ST-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c697c70c-6fab-4a19-8ea3-07089ce52e74	d1a1b16d-d9c2-4775-a1a3-0d733a9ca72f	g.chr1:142803543C>T	ENST00000423385.1	-	0	1422																											TGTTGGAATTCCTGATGAATC	0.269																																						ENST00000423385.1																			0																																																			0							g.chr1:142803543C>T																													1.37:g.142803543C>T														0	1422	-									RNA	SNP	ENST00000423385.1	37																																																																																						0.269	RP11-423O2.5-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000193203.1			4	166	0	0	0	1	0	4	166				
HSPA5	3309	broad.mit.edu	37	9	127998975	127998975	+	Missense_Mutation	SNP	T	T	C			TCGA-EM-A3ST-01A-11D-A22Z-08	TCGA-EM-A3ST-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c697c70c-6fab-4a19-8ea3-07089ce52e74	d1a1b16d-d9c2-4775-a1a3-0d733a9ca72f	g.chr9:127998975T>C	ENST00000324460.6	-	8	2064	c.1861A>G	c.(1861-1863)Aag>Gag	p.K621E		NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN	heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	621					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|ATP catabolic process (GO:0006200)|blood coagulation (GO:0007596)|cellular protein metabolic process (GO:0044267)|cellular response to antibiotic (GO:0071236)|cellular response to glucose starvation (GO:0042149)|cellular response to interleukin-4 (GO:0071353)|cerebellar Purkinje cell layer development (GO:0021680)|cerebellum structural organization (GO:0021589)|endoplasmic reticulum unfolded protein response (GO:0030968)|ER overload response (GO:0006983)|ER-associated ubiquitin-dependent protein catabolic process (GO:0030433)|maintenance of protein localization in endoplasmic reticulum (GO:0035437)|negative regulation of apoptotic process (GO:0043066)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cell migration (GO:0030335)|positive regulation of protein ubiquitination (GO:0031398)|regulation of protein folding in endoplasmic reticulum (GO:0060904)|substantia nigra development (GO:0021762)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum chaperone complex (GO:0034663)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of endoplasmic reticulum membrane (GO:0030176)|membrane (GO:0016020)|midbody (GO:0030496)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|chaperone binding (GO:0051087)|enzyme binding (GO:0019899)|glycoprotein binding (GO:0001948)|misfolded protein binding (GO:0051787)|protein domain specific binding (GO:0019904)|ribosome binding (GO:0043022)|ubiquitin protein ligase binding (GO:0031625)|unfolded protein binding (GO:0051082)	p.K621E(1)		breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23					Acetylsalicylic acid(DB00945)|Antihemophilic Factor(DB00025)	TCCAGTTCCTTCTTCTTAGCT	0.423										Prostate(1;0.17)																												ENST00000324460.6																			1	Substitution - Missense(1)	p.K621E(1)	kidney(1)	breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(9)|ovary(4)|prostate(2)|skin(1)	23						c.(1861-1863)Aag>Gag		heat shock 70kDa protein 5 (glucose-regulated protein, 78kDa)	Antihemophilic Factor(DB00025)						106.0	100.0	102.0					9																	127998975		2203	4300	6503	SO:0001583	missense	3309				anti-apoptosis|cellular response to glucose starvation|ER-associated protein catabolic process|platelet activation|platelet degranulation|regulation of protein folding in endoplasmic reticulum	cell surface|endoplasmic reticulum chaperone complex|endoplasmic reticulum lumen|ER-Golgi intermediate compartment|integral to endoplasmic reticulum membrane|melanosome|midbody|nucleus|perinuclear region of cytoplasm	ATP binding|ATPase activity|calcium ion binding|caspase inhibitor activity|chaperone binding|misfolded protein binding|protein binding, bridging|protein domain specific binding|ubiquitin protein ligase binding|unfolded protein binding	g.chr9:127998975T>C		CCDS6863.1	9q33.3	2011-09-02	2002-08-29		ENSG00000044574	ENSG00000044574		"""Heat shock proteins / HSP70"""	5238	protein-coding gene	gene with protein product		138120	"""heat shock 70kD protein 5 (glucose-regulated protein, 78kD)"""	GRP78			Standard	NM_005347		Approved	BiP	uc004bpn.3	P11021	OTTHUMG00000020672	ENST00000324460.6:c.1861A>G	9.37:g.127998975T>C	ENSP00000324173:p.Lys621Glu	Prostate(1;0.17)					p.K621E	NM_005347.4	NP_005338.1	P11021	GRP78_HUMAN			8	2064	-			621					B0QZ61|Q2EF78|Q9NPF1|Q9UK02	Missense_Mutation	SNP	ENST00000324460.6	37	c.1861A>G	CCDS6863.1	.	.	.	.	.	.	.	.	.	.	T	13.80	2.344314	0.41498	.	.	ENSG00000044574	ENST00000324460	T	0.15372	2.43	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	T	0.13457	0.0326	N	0.17379	0.485	0.80722	D	1	B	0.17667	0.023	B	0.26310	0.068	T	0.06844	-1.0804	10	0.87932	D	0	-19.9514	13.9572	0.64157	0.0:0.0:0.0:1.0	.	621	P11021	GRP78_HUMAN	E	621	ENSP00000324173:K621E	ENSP00000324173:K621E	K	-	1	0	HSPA5	127038796	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.997000	0.88414	1.955000	0.56771	0.477000	0.44152	AAG		0.423	HSPA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054062.1			30	41	0	0	0	1	0	30	41				
PMS2P4	5382	broad.mit.edu	37	7	66767840	66767840	+	RNA	SNP	G	G	C	rs542976529	byFrequency	TCGA-EM-A3ST-01A-11D-A22Z-08	TCGA-EM-A3ST-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c697c70c-6fab-4a19-8ea3-07089ce52e74	d1a1b16d-d9c2-4775-a1a3-0d733a9ca72f	g.chr7:66767840G>C	ENST00000414507.1	-	0	0				STAG3L4_ENST00000416602.2_RNA					postmeiotic segregation increased 2 pseudogene 4																		AGGCAGGAGCGGCGGCCCAGC	0.711													g|||	6	0.00119808	0.0045	0.0	5008	,	,		11460	0.0		0.0	False		,,,				2504	0.0					ENST00000416602.2																			0				endometrium(2)|lung(5)	7																																														0							g.chr7:66767840G>C	D38438		7q11.22	2010-10-26	2010-10-26	2010-10-26	ENSG00000067601	ENSG00000067601			9129	pseudogene	pseudogene	"""PMS2 pseudogene"""		"""postmeiotic segregation increased 2-like 4"", ""postmeiotic segregation increased 2-like 4 pseudogene"""	PMS2L4		8586419	Standard	NR_046297		Approved	PMS6	uc003tvo.3		OTTHUMG00000156923		7.37:g.66767840G>C								NR_040586.1		Q8TBR4	STG34_HUMAN			0	233	+		Lung NSC(55;0.0839)|all_lung(88;0.181)							RNA	SNP	ENST00000414507.1	37																																																																																						0.711	PMS2P4-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000346632.1	NR_022007		7	5	0	0	0	1	0	7	5				
GPRC5B	51704	broad.mit.edu	37	16	19883140	19883140	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3ST-01A-11D-A22Z-08	TCGA-EM-A3ST-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c697c70c-6fab-4a19-8ea3-07089ce52e74	d1a1b16d-d9c2-4775-a1a3-0d733a9ca72f	g.chr16:19883140G>A	ENST00000300571.2	-	2	1219	c.1028C>T	c.(1027-1029)gCa>gTa	p.A343V	GPRC5B_ENST00000569847.1_Missense_Mutation_p.A343V|GPRC5B_ENST00000535671.1_Missense_Mutation_p.A343V|GPRC5B_ENST00000537135.1_Missense_Mutation_p.A369V|GPRC5B_ENST00000569479.1_Missense_Mutation_p.A343V	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN	G protein-coupled receptor, class C, group 5, member B	343					glucose homeostasis (GO:0042593)|locomotory behavior (GO:0007626)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of inflammatory response (GO:0050729)|positive regulation of macrophage cytokine production (GO:0060907)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of neuron projection development (GO:0010976)|positive regulation of protein tyrosine kinase activity (GO:0061098)	cell surface (GO:0009986)|cytoplasmic vesicle (GO:0031410)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane raft (GO:0045121)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|G-protein coupled receptor binding (GO:0001664)|protein kinase activator activity (GO:0030295)|protein kinase binding (GO:0019901)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						CACTTTACCTGCATTGTGTTC	0.597																																						ENST00000300571.2																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(11)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	25						c.(1027-1029)gCa>gTa		G protein-coupled receptor, family C, group 5, member B							90.0	88.0	88.0					16																	19883140		2197	4300	6497	SO:0001583	missense	0							g.chr16:19883140G>A	AF202640	CCDS10581.1	16p12	2014-01-30	2014-01-30		ENSG00000167191	ENSG00000167191		"""GPCR / Class C : Orphans"""	13308	protein-coding gene	gene with protein product		605948	"""G protein-coupled receptor, family C, group 1, member B"", ""G protein-coupled receptor, family C, group 5, member B"""			10493829, 10783259	Standard	XM_005255357		Approved	RAIG-2	uc002dgt.3	Q9NZH0	OTTHUMG00000131460	ENST00000300571.2:c.1028C>T	16.37:g.19883140G>A	ENSP00000300571:p.Ala343Val					GPRC5B_ENST00000569847.1_Missense_Mutation_p.A343V|GPRC5B_ENST00000569479.1_Missense_Mutation_p.A343V|GPRC5B_ENST00000537135.1_Missense_Mutation_p.A369V|GPRC5B_ENST00000535671.1_Missense_Mutation_p.A343V	p.A343V	NM_016235.1	NP_057319.1	Q9NZH0	GPC5B_HUMAN			2	1219	-			343					D2DFB0|O75205|Q8NBZ8	Missense_Mutation	SNP	ENST00000300571.2	37	c.1028C>T	CCDS10581.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.472756	0.84640	.	.	ENSG00000167191	ENST00000300571;ENST00000535671;ENST00000538074;ENST00000537135	T;T;T	0.29917	1.57;1.56;1.55	4.99	4.99	0.66335	.	0.191190	0.46145	D	0.000310	T	0.37892	0.1020	L	0.48642	1.525	0.80722	D	1	P;P	0.52316	0.952;0.914	P;B	0.49477	0.612;0.439	T	0.05241	-1.0897	9	.	.	.	.	17.457	0.87610	0.0:0.0:1.0:0.0	.	369;343	B7Z831;Q9NZH0	.;GPC5B_HUMAN	V	343;343;192;369	ENSP00000300571:A343V;ENSP00000442858:A343V;ENSP00000441775:A369V	.	A	-	2	0	GPRC5B	19790641	1.000000	0.71417	0.991000	0.47740	0.796000	0.44982	6.420000	0.73349	2.586000	0.87340	0.655000	0.94253	GCA		0.597	GPRC5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254285.1			23	47	0	0	0	1	0	23	47				
LINGO1	84894	broad.mit.edu	37	15	77907884	77907884	+	Missense_Mutation	SNP	C	C	T	rs188738703		TCGA-EM-A3ST-01A-11D-A22Z-08	TCGA-EM-A3ST-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c697c70c-6fab-4a19-8ea3-07089ce52e74	d1a1b16d-d9c2-4775-a1a3-0d733a9ca72f	g.chr15:77907884C>T	ENST00000355300.6	-	2	539	c.365G>A	c.(364-366)cGg>cAg	p.R122Q	LINGO1_ENST00000561030.1_Missense_Mutation_p.R116Q	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN	leucine rich repeat and Ig domain containing 1	122					central nervous system neuron development (GO:0021954)|negative regulation of axonogenesis (GO:0050771)|negative regulation of oligodendrocyte differentiation (GO:0048715)|neuron projection development (GO:0031175)|neurotrophin TRK receptor signaling pathway (GO:0048011)|protein kinase B signaling (GO:0043491)|regulation of axonogenesis (GO:0050770)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						ACCCAGCGTCCGGAGGTTGAA	0.617													C|||	1	0.000199681	0.0	0.0014	5008	,	,		18926	0.0		0.0	False		,,,				2504	0.0					ENST00000355300.6																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(7)|lung(16)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)	31						c.(364-366)cGg>cAg		leucine rich repeat and Ig domain containing 1							50.0	55.0	54.0					15																	77907884		2070	4188	6258	SO:0001583	missense	84894				negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane		g.chr15:77907884C>T	AK027500	CCDS45313.1, CCDS73766.1	15q24	2013-01-11	2007-02-01	2007-02-01		ENSG00000169783		"""Immunoglobulin superfamily / I-set domain containing"""	21205	protein-coding gene	gene with protein product		609791	"""leucine rich repeat neuronal 6A"""	LRRN6A		14686891	Standard	XM_006720723		Approved	FLJ14594, LERN1	uc002bct.1	Q96FE5		ENST00000355300.6:c.365G>A	15.37:g.77907884C>T	ENSP00000347451:p.Arg122Gln					LINGO1_ENST00000561030.1_Missense_Mutation_p.R116Q	p.R122Q	NM_032808.5	NP_116197.4	Q96FE5	LIGO1_HUMAN			2	539	-			122					D3DW80|Q6NUK3|Q6UXM3|Q6VVG0|Q6VVG1|Q6VVG2|Q8N3K5|Q96K52	Missense_Mutation	SNP	ENST00000355300.6	37	c.365G>A	CCDS45313.1	1	4.578754578754579E-4	0	0.0	1	0.0027624309392265192	0	0.0	0	0.0	C	14.93	2.682290	0.47991	.	.	ENSG00000169783	ENST00000355300	T	0.58506	0.33	5.63	5.63	0.86233	.	0.062472	0.64402	D	0.000005	T	0.42832	0.1220	L	0.31845	0.965	0.80722	D	1	P	0.34546	0.456	B	0.20767	0.031	T	0.42050	-0.9474	10	0.08179	T	0.78	.	19.6704	0.95910	0.0:1.0:0.0:0.0	.	122	Q96FE5	LIGO1_HUMAN	Q	122	ENSP00000347451:R122Q	ENSP00000347451:R122Q	R	-	2	0	LINGO1	75694939	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.050000	0.71063	2.659000	0.90383	0.561000	0.74099	CGG		0.617	LINGO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000419546.1	NM_032808		8	16	0	0	0	1	0	8	16				
ACRC	93953	broad.mit.edu	37	X	70823900	70823900	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3ST-01A-11D-A22Z-08	TCGA-EM-A3ST-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c697c70c-6fab-4a19-8ea3-07089ce52e74	d1a1b16d-d9c2-4775-a1a3-0d733a9ca72f	g.chrX:70823900G>A	ENST00000373695.1	+	7	1310	c.773G>A	c.(772-774)aGc>aAc	p.S258N	ACRC_ENST00000373696.3_Missense_Mutation_p.S258N			Q96QF7	ACRC_HUMAN	acidic repeat containing	258	Asp/Ser-rich.					nucleus (GO:0005634)		p.S258N(2)		autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54	Renal(35;0.156)					CCCGACGACAGCAGTGATGAT	0.557																																						ENST00000373695.1																			2	Substitution - Missense(2)	p.S258N(2)	endometrium(2)	autonomic_ganglia(1)|breast(1)|endometrium(15)|kidney(4)|large_intestine(4)|lung(20)|ovary(5)|prostate(1)|skin(2)|stomach(1)	54						c.(772-774)aGc>aAc		acidic repeat containing							19.0	18.0	19.0					X																	70823900		1511	3123	4634	SO:0001583	missense	93953					nucleus		g.chrX:70823900G>A	AJ311392	CCDS35326.1	Xq13.1	2010-08-05			ENSG00000147174	ENSG00000147174			15805	protein-coding gene	gene with protein product		300369					Standard	NM_052957		Approved		uc004eae.2	Q96QF7	OTTHUMG00000033327	ENST00000373695.1:c.773G>A	X.37:g.70823900G>A	ENSP00000362799:p.Ser258Asn					ACRC_ENST00000373696.3_Missense_Mutation_p.S258N	p.S258N			Q96QF7	ACRC_HUMAN			7	1310	+	Renal(35;0.156)		258			Asp/Ser-rich.		B9EG62	Missense_Mutation	SNP	ENST00000373695.1	37	c.773G>A	CCDS35326.1	.	.	.	.	.	.	.	.	.	.	g	0.024	-1.390008	0.01185	.	.	ENSG00000147174	ENST00000373696;ENST00000373695	T;T	0.32023	1.47;1.47	0.14	-0.28	0.12886	.	.	.	.	.	T	0.10766	0.0263	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.33007	-0.9885	9	0.14656	T	0.56	.	4.7735	0.13167	0.3324:0.0:0.6676:0.0	.	258	Q96QF7	ACRC_HUMAN	N	258	ENSP00000362800:S258N;ENSP00000362799:S258N	ENSP00000362799:S258N	S	+	2	0	ACRC	70740625	0.000000	0.05858	0.005000	0.12908	0.005000	0.04900	-0.205000	0.09411	-1.206000	0.02641	-1.198000	0.01671	AGC		0.557	ACRC-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000081856.1			4	123	0	0	0	1	0	4	123				
IGSF9	57549	broad.mit.edu	37	1	159906610	159906610	+	Silent	SNP	G	G	A			TCGA-EM-A3ST-01A-11D-A22Z-08	TCGA-EM-A3ST-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c697c70c-6fab-4a19-8ea3-07089ce52e74	d1a1b16d-d9c2-4775-a1a3-0d733a9ca72f	g.chr1:159906610G>A	ENST00000368094.1	-	5	686	c.489C>T	c.(487-489)agC>agT	p.S163S	IGSF9_ENST00000361509.3_Silent_p.S163S|IGSF9_ENST00000493195.1_5'Flank	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	immunoglobulin superfamily, member 9	163	Ig-like 2.				dendrite development (GO:0016358)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56	all_hematologic(112;0.0597)	Breast(1374;0.000126)	BRCA - Breast invasive adenocarcinoma(70;0.111)			GAGGCAGGGGGCTGCCACGGG	0.617											OREG0013921	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000368094.1																			0				central_nervous_system(2)|endometrium(8)|kidney(3)|large_intestine(13)|lung(17)|ovary(3)|prostate(4)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(1)	56						c.(487-489)agC>agT		immunoglobulin superfamily, member 9							63.0	65.0	64.0					1																	159906610		2203	4300	6503	SO:0001819	synonymous_variant	57549					cell junction|integral to membrane|synapse		g.chr1:159906610G>A	AB037776	CCDS1190.1, CCDS44254.1	1q22-q23	2013-02-11			ENSG00000085552	ENSG00000085552		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	18132	protein-coding gene	gene with protein product		609738				11991715	Standard	NM_020789		Approved	KIAA1355, Nrt1, IGSF9A	uc001fur.2	Q9P2J2	OTTHUMG00000022794	ENST00000368094.1:c.489C>T	1.37:g.159906610G>A			OREG0013921	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1804	IGSF9_ENST00000361509.3_Silent_p.S163S	p.S163S	NM_001135050.1	NP_001128522.1	Q9P2J2	TUTLA_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		5	686	-	all_hematologic(112;0.0597)	Breast(1374;0.000126)	163			Ig-like 2.			Silent	SNP	ENST00000368094.1	37	c.489C>T	CCDS44254.1																																																																																				0.617	IGSF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000059115.1	NM_020789		22	38	0	0	0	1	0	22	38				
TGM4	7047	broad.mit.edu	37	3	44948680	44948680	+	Nonsense_Mutation	SNP	A	A	T			TCGA-EM-A3ST-01A-11D-A22Z-08	TCGA-EM-A3ST-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c697c70c-6fab-4a19-8ea3-07089ce52e74	d1a1b16d-d9c2-4775-a1a3-0d733a9ca72f	g.chr3:44948680A>T	ENST00000296125.4	+	10	1383	c.1315A>T	c.(1315-1317)Aag>Tag	p.K439*		NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN	transglutaminase 4	439					mating plug formation (GO:0042628)|peptide cross-linking (GO:0018149)	cytoplasm (GO:0005737)|extracellular matrix (GO:0031012)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)			NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38				BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	L-Glutamine(DB00130)	CTATGAGTACAAGTATCCAGA	0.512																																						ENST00000296125.4																			0				NS(1)|breast(1)|endometrium(2)|large_intestine(9)|lung(21)|ovary(2)|stomach(1)|upper_aerodigestive_tract(1)	38						c.(1315-1317)Aag>Tag		transglutaminase 4	L-Glutamine(DB00130)						133.0	129.0	130.0					3																	44948680		2203	4300	6503	SO:0001587	stop_gained	7047				peptide cross-linking|protein polyamination		acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr3:44948680A>T	BC007003	CCDS2723.1	3p22-p21.33	2013-05-02	2013-05-02		ENSG00000163810	ENSG00000163810	2.3.2.13	"""Transglutaminases"""	11780	protein-coding gene	gene with protein product		600585	"""transglutaminase 4 (prostate)"""			7665178, 7916568	Standard	NM_003241		Approved	TGP	uc003coc.4	P49221	OTTHUMG00000133096	ENST00000296125.4:c.1315A>T	3.37:g.44948680A>T	ENSP00000296125:p.Lys439*						p.K439*	NM_003241.3	NP_003232.2	P49221	TGM4_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.00963)|KIRC - Kidney renal clear cell carcinoma(197;0.0546)|Kidney(197;0.0686)	10	1383	+			439					Q16707|Q96QN4	Nonsense_Mutation	SNP	ENST00000296125.4	37	c.1315A>T	CCDS2723.1	.	.	.	.	.	.	.	.	.	.	A	17.13	3.310097	0.60414	.	.	ENSG00000163810	ENST00000296125	.	.	.	2.03	2.03	0.26663	.	0.000000	0.46442	U	0.000299	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.0663	0.42306	1.0:0.0:0.0:0.0	.	.	.	.	X	439	.	ENSP00000296125:K439X	K	+	1	0	TGM4	44923684	1.000000	0.71417	0.144000	0.22314	0.053000	0.15095	5.713000	0.68415	0.860000	0.35481	0.377000	0.23210	AAG		0.512	TGM4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256755.2	NM_003241		9	85	0	0	0	1	0	9	85				
APOBEC3C	27350	broad.mit.edu	37	22	39414360	39414360	+	Silent	SNP	C	C	T			TCGA-EM-A3ST-01A-11D-A22Z-08	TCGA-EM-A3ST-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c697c70c-6fab-4a19-8ea3-07089ce52e74	d1a1b16d-d9c2-4775-a1a3-0d733a9ca72f	g.chr22:39414360C>T	ENST00000361441.4	+	4	821	c.541C>T	c.(541-543)Ctg>Ttg	p.L181L	APOBEC3D_ENST00000381568.4_Intron|APOBEC3D_ENST00000216099.8_5'Flank	NM_014508.2	NP_055323.2	Q9NRW3	ABC3C_HUMAN	apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3C	181					cytidine deamination (GO:0009972)|defense response to virus (GO:0051607)|DNA demethylation (GO:0080111)|innate immune response (GO:0045087)|negative regulation of transposition (GO:0010529)|negative regulation of viral genome replication (GO:0045071)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines (GO:0016814)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			endometrium(1)|large_intestine(3)|lung(1)|skin(1)	6	Melanoma(58;0.04)					CTTTCGACTTCTGAAAAGAAG	0.473																																						ENST00000361441.3																			0				endometrium(1)|large_intestine(3)|lung(1)|skin(1)	6						c.(541-543)Ctg>Ttg		apolipoprotein B mRNA editing enzyme, catalytic polypeptide-like 3C							157.0	168.0	164.0					22																	39414360		2203	4300	6503	SO:0001819	synonymous_variant	27350				DNA demethylation|interspecies interaction between organisms|negative regulation of transposition		hydrolase activity, acting on carbon-nitrogen (but not peptide) bonds, in cyclic amidines|protein binding|zinc ion binding	g.chr22:39414360C>T	AF165520	CCDS13983.1	22q13.1-q13.2	2014-01-28			ENSG00000244509	ENSG00000244509		"""Apolipoprotein B mRNA editing enzymes"""	17353	protein-coding gene	gene with protein product		607750				11863358	Standard	NM_014508		Approved	APOBEC1L, PBI, bK150C2.3, ARDC2, ARDC4, ARP5	uc003awr.3	Q9NRW3	OTTHUMG00000151087	ENST00000361441.4:c.541C>T	22.37:g.39414360C>T						APOBEC3D_ENST00000381568.4_Intron	p.L181L	NM_014508.2	NP_055323.2	Q9NRW3	ABC3C_HUMAN			4	821	+	Melanoma(58;0.04)		181					B2R884|Q5JZ92|Q7Z2N7|Q96F12	Silent	SNP	ENST00000361441.4	37	c.541C>T	CCDS13983.1																																																																																				0.473	APOBEC3C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321241.2	NM_014508		80	123	0	0	0	1	0	80	123				
MUC16	94025	broad.mit.edu	37	19	9013858	9013858	+	Silent	SNP	G	G	A			TCGA-EM-A3ST-01A-11D-A22Z-08	TCGA-EM-A3ST-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c697c70c-6fab-4a19-8ea3-07089ce52e74	d1a1b16d-d9c2-4775-a1a3-0d733a9ca72f	g.chr19:9013858G>A	ENST00000397910.4	-	33	38735	c.38532C>T	c.(38530-38532)ctC>ctT	p.L12844L		NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN	mucin 16, cell surface associated	12846				Missing (in Ref. 3; AAK74120). {ECO:0000305}.	cell adhesion (GO:0007155)|cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)	extracellular vesicular exosome (GO:0070062)|extrinsic component of membrane (GO:0019898)|Golgi lumen (GO:0005796)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|vesicle (GO:0031982)				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						TAGGGCTGGGGAGGGAGGATG	0.478																																						ENST00000397910.4																			0				NS(9)|autonomic_ganglia(1)|breast(26)|central_nervous_system(11)|cervix(1)|endometrium(46)|haematopoietic_and_lymphoid_tissue(5)|kidney(35)|large_intestine(91)|liver(1)|lung(278)|ovary(17)|pancreas(2)|prostate(17)|skin(18)|soft_tissue(1)|stomach(8)|upper_aerodigestive_tract(16)|urinary_tract(7)	590						c.(38530-38532)ctC>ctT		mucin 16, cell surface associated							70.0	63.0	66.0					19																	9013858		1925	4127	6052	SO:0001819	synonymous_variant	94025				cell adhesion	extracellular space|extrinsic to membrane|integral to membrane|plasma membrane	protein binding	g.chr19:9013858G>A	AF414442	CCDS54212.1	19p13.2	2008-02-05	2006-03-14			ENSG00000181143		"""Mucins"""	15582	protein-coding gene	gene with protein product		606154				11369781	Standard	XM_006722941		Approved	CA125, FLJ14303	uc002mkp.3	Q8WXI7		ENST00000397910.4:c.38532C>T	19.37:g.9013858G>A							p.L12844L	NM_024690.2	NP_078966.2	Q8WXI7	MUC16_HUMAN			33	38735	-			12846	Missing (in Ref. 3; AAK74120).				Q6ZQW5|Q96RK2	Silent	SNP	ENST00000397910.4	37	c.38532C>T	CCDS54212.1																																																																																				0.478	MUC16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402806.1	NM_024690		3	23	0	0	0	1	0	3	23				
GSDMA	284110	broad.mit.edu	37	17	38128401	38128401	+	Missense_Mutation	SNP	T	T	A			TCGA-EM-A3ST-01A-11D-A22Z-08	TCGA-EM-A3ST-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c697c70c-6fab-4a19-8ea3-07089ce52e74	d1a1b16d-d9c2-4775-a1a3-0d733a9ca72f	g.chr17:38128401T>A	ENST00000301659.4	+	6	793	c.675T>A	c.(673-675)aaT>aaA	p.N225K		NM_178171.4	NP_835465.2	Q96QA5	GSDMA_HUMAN	gasdermin A	225					apoptotic process (GO:0006915)	perinuclear region of cytoplasm (GO:0048471)				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						ATATCTGCAATGATAACATGC	0.517																																						ENST00000301659.4																			0				NS(1)|endometrium(2)|large_intestine(3)|lung(1)	7						c.(673-675)aaT>aaA		gasdermin A							45.0	42.0	43.0					17																	38128401		1843	4077	5920	SO:0001583	missense	284110				apoptosis|induction of apoptosis	perinuclear region of cytoplasm		g.chr17:38128401T>A	AB093591	CCDS45669.1	17q21.2	2008-07-31	2008-07-31	2008-07-31		ENSG00000167914			13311	protein-coding gene	gene with protein product		611218	"""gasdermin"", ""gasdermin 1"""	GSDM, GSDM1		12883658, 15010812, 17350798	Standard	NM_178171		Approved	FLJ39120	uc002htl.1	Q96QA5		ENST00000301659.4:c.675T>A	17.37:g.38128401T>A	ENSP00000301659:p.Asn225Lys						p.N225K	NM_178171.4	NP_835465.2	Q96QA5	GSDMA_HUMAN			6	793	+			225					Q32MC5|Q86VE7|Q8N1M6	Missense_Mutation	SNP	ENST00000301659.4	37	c.675T>A	CCDS45669.1	.	.	.	.	.	.	.	.	.	.	T	15.79	2.937413	0.52972	.	.	ENSG00000167914	ENST00000301659	T	0.21191	2.02	5.87	-4.76	0.03229	.	0.380726	0.26390	N	0.024659	T	0.16981	0.0408	M	0.62723	1.935	0.09310	N	0.999999	B	0.27910	0.193	B	0.28385	0.089	T	0.42032	-0.9475	10	0.08381	T	0.77	-12.0673	14.5245	0.67878	0.0:0.5804:0.0:0.4196	.	225	Q96QA5	GSDMA_HUMAN	K	225	ENSP00000301659:N225K	ENSP00000301659:N225K	N	+	3	2	GSDMA	35381927	0.376000	0.25098	0.015000	0.15790	0.578000	0.36192	-1.098000	0.03346	-1.001000	0.03434	-0.993000	0.02533	AAT		0.517	GSDMA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000446847.1	NM_178171		5	5	0	0	0	1	0	5	5				
MACF1	23499	broad.mit.edu	37	1	39854046	39854046	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3ST-01A-11D-A22Z-08	TCGA-EM-A3ST-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c697c70c-6fab-4a19-8ea3-07089ce52e74	d1a1b16d-d9c2-4775-a1a3-0d733a9ca72f	g.chr1:39854046G>A	ENST00000372915.3	+	57	15634	c.15547G>A	c.(15547-15549)Gcc>Acc	p.A5183T	MACF1_ENST00000539005.1_Missense_Mutation_p.A3095T|MACF1_ENST00000567887.1_Missense_Mutation_p.A5215T|MACF1_ENST00000564288.1_Missense_Mutation_p.A5178T|MACF1_ENST00000289893.4_Missense_Mutation_p.A3618T|MACF1_ENST00000317713.7_Missense_Mutation_p.A3116T|MACF1_ENST00000545844.1_Missense_Mutation_p.A3116T|MACF1_ENST00000361689.2_Missense_Mutation_p.A3116T			Q9UPN3	MACF1_HUMAN	microtubule-actin crosslinking factor 1	5183					ATP catabolic process (GO:0006200)|cell cycle arrest (GO:0007050)|Golgi to plasma membrane protein transport (GO:0043001)|positive regulation of Wnt signaling pathway (GO:0030177)|regulation of epithelial cell migration (GO:0010632)|regulation of focal adhesion assembly (GO:0051893)|regulation of microtubule-based process (GO:0032886)|Wnt signaling pathway (GO:0016055)|wound healing (GO:0042060)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|poly(A) RNA binding (GO:0044822)			breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)			AGACATAGAGGCCTCTGAAGC	0.473																																						ENST00000564288.1																			0				breast(11)|central_nervous_system(5)|endometrium(18)|haematopoietic_and_lymphoid_tissue(1)|kidney(11)|large_intestine(36)|lung(78)|ovary(12)|prostate(2)|skin(9)|stomach(2)|upper_aerodigestive_tract(8)|urinary_tract(10)	203						c.(15532-15534)Gcc>Acc		microtubule-actin crosslinking factor 1							52.0	52.0	52.0					1																	39854046		2203	4300	6503	SO:0001583	missense	23499				cell cycle arrest|Golgi to plasma membrane protein transport|positive regulation of Wnt receptor signaling pathway|regulation of epithelial cell migration|regulation of focal adhesion assembly|regulation of microtubule-based process|Wnt receptor signaling pathway|wound healing	Golgi apparatus|microtubule|ruffle membrane	actin filament binding|ATPase activity|calcium ion binding|microtubule binding	g.chr1:39854046G>A	AB007934	CCDS435.1	1p32-p31	2013-01-10			ENSG00000127603	ENSG00000127603		"""EF-hand domain containing"""	13664	protein-coding gene	gene with protein product	"""actin cross-linking factor"", ""620 kDa actin binding protein"", ""macrophin 1"", ""trabeculin-alpha"", ""actin cross-linking family protein 7"""	608271				7635207, 10529403	Standard	NM_012090		Approved	KIAA0465, ACF7, ABP620, KIAA1251, MACF, FLJ45612, FLJ46776	uc031pmc.1	Q9UPN3	OTTHUMG00000007754	ENST00000372915.3:c.15547G>A	1.37:g.39854046G>A	ENSP00000362006:p.Ala5183Thr					MACF1_ENST00000545844.1_Missense_Mutation_p.A3116T|MACF1_ENST00000361689.2_Missense_Mutation_p.A3116T|MACF1_ENST00000289893.4_Missense_Mutation_p.A3618T|MACF1_ENST00000539005.1_Missense_Mutation_p.A3095T|MACF1_ENST00000372915.3_Missense_Mutation_p.A5183T|MACF1_ENST00000317713.7_Missense_Mutation_p.A3116T|MACF1_ENST00000567887.1_Missense_Mutation_p.A5215T	p.A5178T			Q9UPN3	MACF1_HUMAN	OV - Ovarian serous cystadenocarcinoma(33;7.78e-19)|Epithelial(16;1.73e-17)|all cancers(16;2.49e-16)|LUSC - Lung squamous cell carcinoma(16;0.00146)|Lung(16;0.00204)		58	16309	+	Lung NSC(20;5.57e-06)|Ovarian(52;0.00769)|Acute lymphoblastic leukemia(166;0.074)	Myeloproliferative disorder(586;0.0255)	5183					B1ALC5|E9PJT0|O75053|Q5VW20|Q8WXY1|Q8WXY2|Q96PK2|Q9H540|Q9UKP0|Q9ULG9	Missense_Mutation	SNP	ENST00000372915.3	37	c.15532G>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	13.00|13.00	2.105658|2.105658	0.37145|0.37145	.|.	.|.	ENSG00000127603|ENSG00000127603	ENST00000545844;ENST00000372915;ENST00000361689;ENST00000317713;ENST00000539005;ENST00000289893|ENST00000372925	T;T;T;T;T;T|.	0.35789|.	1.29;1.29;1.29;1.29;1.29;1.29|.	5.48|5.48	5.48|5.48	0.80851|0.80851	.|.	0.092983|.	0.47093|.	D|.	0.000255|.	T|T	0.61739|0.61739	0.2371|0.2371	L|L	0.47716|0.47716	1.5|1.5	0.80722|0.80722	D|D	1|1	P;B;B|.	0.39131|.	0.661;0.099;0.219|.	P;B;B|.	0.48334|.	0.574;0.096;0.199|.	T|T	0.57260|0.57260	-0.7842|-0.7842	10|5	0.13853|.	T|.	0.58|.	.|.	13.8028|13.8028	0.63212|0.63212	0.0:0.0:0.7307:0.2693|0.0:0.0:0.7307:0.2693	.|.	5183;3116;3060|.	Q9UPN3;F8W8Q1;Q9UPN3-3|.	MACF1_HUMAN;.;.|.	T|D	3116;5183;3116;3116;3095;3618|2228	ENSP00000439537:A3116T;ENSP00000362006:A5183T;ENSP00000354573:A3116T;ENSP00000313438:A3116T;ENSP00000444364:A3095T;ENSP00000289893:A3618T|.	ENSP00000289893:A3618T|.	A|G	+|+	1|2	0|0	MACF1|MACF1	39626633|39626633	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.957000|0.957000	0.61999|0.61999	3.309000|3.309000	0.51903|0.51903	2.722000|2.722000	0.93159|0.93159	0.563000|0.563000	0.77884|0.77884	GCC|GGC		0.473	MACF1-028	NOVEL	not_organism_supported|basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000392096.1	NM_033044		18	17	0	0	0	1	0	18	17				
EIF1AX	1964	broad.mit.edu	37	X	20148693	20148693	+	Nonsense_Mutation	SNP	C	C	A			TCGA-EM-A3ST-01A-11D-A22Z-08	TCGA-EM-A3ST-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c697c70c-6fab-4a19-8ea3-07089ce52e74	d1a1b16d-d9c2-4775-a1a3-0d733a9ca72f	g.chrX:20148693C>A	ENST00000379607.5	-	6	573	c.370G>T	c.(370-372)Gga>Tga	p.G124*	EIF1AX_ENST00000379593.1_Nonsense_Mutation_p.G96*	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN	eukaryotic translation initiation factor 1A, X-linked	124					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						TCATCATCTCCAGGACCAAAT	0.323																																						ENST00000379607.5																			0				endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						c.(370-372)Gga>Tga		eukaryotic translation initiation factor 1A, X-linked							165.0	132.0	143.0					X																	20148693		2203	4297	6500	SO:0001587	stop_gained	1964					cytosol	translation initiation factor activity	g.chrX:20148693C>A	L18960	CCDS14196.1	Xp22.13	2014-02-19	2002-11-28	2004-05-26	ENSG00000173674	ENSG00000173674			3250	protein-coding gene	gene with protein product		300186	"""eukaryotic translation initiation factor 1A, X chromosome"""	EIF4C, EIF1A		8106356, 9381176	Standard	NM_001412		Approved	eIF-1A, eIF-4C	uc004czt.3	P47813	OTTHUMG00000022704	ENST00000379607.5:c.370G>T	X.37:g.20148693C>A	ENSP00000368927:p.Gly124*					EIF1AX_ENST00000379593.1_Nonsense_Mutation_p.G96*	p.G124*	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN			6	573	-			124					B2R5U5|Q0VGC2|Q5JPS5|Q5JPS6	Nonsense_Mutation	SNP	ENST00000379607.5	37	c.370G>T	CCDS14196.1	.	.	.	.	.	.	.	.	.	.	C	37	6.159454	0.97334	.	.	ENSG00000173674	ENST00000379607;ENST00000379593	.	.	.	4.82	3.94	0.45596	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.33940	T	0.23	-34.5406	12.7015	0.57035	0.0:0.9161:0.0:0.0839	.	.	.	.	X	124;96	.	ENSP00000368912:G96X	G	-	1	0	EIF1AX	20058614	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.087000	0.76893	1.967000	0.57214	0.594000	0.82650	GGA		0.323	EIF1AX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058913.1			21	43	1	0	7.45023e-12	1	8.12752e-12	21	43				
FMNL1	752	broad.mit.edu	37	17	43321229	43321229	+	Missense_Mutation	SNP	G	G	A			TCGA-EM-A3ST-01A-11D-A22Z-08	TCGA-EM-A3ST-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c697c70c-6fab-4a19-8ea3-07089ce52e74	d1a1b16d-d9c2-4775-a1a3-0d733a9ca72f	g.chr17:43321229G>A	ENST00000331495.3	+	18	2621	c.2285G>A	c.(2284-2286)cGc>cAc	p.R762H	FMNL1_ENST00000587489.1_Missense_Mutation_p.R340H|CTD-2020K17.3_ENST00000393507.2_RNA|CTD-2020K17.4_ENST00000420431.2_RNA|FMNL1_ENST00000328118.3_Missense_Mutation_p.R762H|CTD-2020K17.3_ENST00000587534.1_RNA	NM_005892.3	NP_005883	O95466	FMNL_HUMAN	formin-like 1	762	FH2. {ECO:0000255|PROSITE- ProRule:PRU00774}.				actin filament severing (GO:0051014)|cortical actin cytoskeleton organization (GO:0030866)|regulation of cell shape (GO:0008360)|substrate-dependent cell migration (GO:0006929)	cell projection (GO:0042995)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|phagocytic vesicle (GO:0045335)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|GTPase activating protein binding (GO:0032794)|Rac GTPase binding (GO:0048365)			biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						GAGTATGAGCGCAGCCTCATC	0.637																																					GBM(164;1247 1997 8702 11086 51972)	ENST00000331495.3																			0				biliary_tract(1)|breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(12)|pancreas(1)|skin(1)|urinary_tract(2)	33						c.(2284-2286)cGc>cAc		formin-like 1							52.0	52.0	52.0					17																	43321229		2203	4300	6503	SO:0001583	missense	752				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr17:43321229G>A	AJ008112	CCDS11497.1	17q21.31	2008-05-14	2003-12-02	2003-12-03		ENSG00000184922			1212	protein-coding gene	gene with protein product		604656	"""formin-like"""	C17orf1B, FMNL		9799091	Standard	NM_005892		Approved	C17orf1	uc002iin.3	O95466		ENST00000331495.3:c.2285G>A	17.37:g.43321229G>A	ENSP00000329219:p.Arg762His					FMNL1_ENST00000587489.1_Missense_Mutation_p.R340H|FMNL1_ENST00000328118.3_Missense_Mutation_p.R762H	p.R762H	NM_005892.3	NP_005883.2	O95466	FMNL_HUMAN			18	2621	+			762			FH2.		D2DGW2|Q6DKG5|Q6IBP3|Q86UH1|Q8N671|Q8TDH1|Q96H10	Missense_Mutation	SNP	ENST00000331495.3	37	c.2285G>A	CCDS11497.1	.	.	.	.	.	.	.	.	.	.	G	19.08	3.757920	0.69648	.	.	ENSG00000184922	ENST00000328118;ENST00000331495;ENST00000539884	T;T	0.17854	2.25;2.25	4.19	1.99	0.26369	Actin-binding FH2/DRF autoregulatory (1);Actin-binding FH2 (3);	0.233302	0.40144	N	0.001164	T	0.30572	0.0769	L	0.57536	1.79	0.44000	D	0.996703	D	0.71674	0.998	D	0.67725	0.953	T	0.02431	-1.1160	10	0.49607	T	0.09	.	8.3843	0.32491	0.0896:0.0:0.7578:0.1527	.	762	O95466	FMNL_HUMAN	H	762;762;417	ENSP00000327442:R762H;ENSP00000329219:R762H	ENSP00000327442:R762H	R	+	2	0	FMNL1	40677012	0.141000	0.22595	0.996000	0.52242	0.968000	0.65278	1.744000	0.38268	1.100000	0.41517	0.462000	0.41574	CGC		0.637	FMNL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000450198.1	NM_005892		15	19	0	0	0	1	0	15	19				
RGPD8	727851	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	G	C	rs370761877		TCGA-EM-A3ST-01A-11D-A22Z-08	TCGA-EM-A3ST-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c697c70c-6fab-4a19-8ea3-07089ce52e74	d1a1b16d-d9c2-4775-a1a3-0d733a9ca72f	g.chr2:113127775G>C	ENST00000302558.3	-	23	5469	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	NM_001164463.1	NP_001157935.1	O14715	RGPD8_HUMAN	RANBP2-like and GRIP domain containing 8	1760				P -> A (in Ref. 3; CAI56757). {ECO:0000305}.	protein targeting to Golgi (GO:0000042)	nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)	p.P1760A(12)		endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GAACGGGAAGGATTTTCTTCC	0.308																																						ENST00000302558.3																			12	Substitution - Missense(12)	p.P1760A(12)	prostate(6)|urinary_tract(2)|endometrium(2)|kidney(2)	endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						c.(5278-5280)Cct>Gct		RANBP2-like and GRIP domain containing 8							235.0	168.0	189.0					2																	113127775		686	1558	2244	SO:0001583	missense	727851							g.chr2:113127775G>C	AF012086	CCDS46394.1	2q13	2013-01-10	2005-12-20	2005-12-20	ENSG00000169629	ENSG00000169629		"""Tetratricopeptide (TTC) repeat domain containing"""	9849	protein-coding gene	gene with protein product		602752	"""RAN binding protein 2-like 1"""	RANBP2L1		9480752	Standard	NM_001164463		Approved	RanBP2alpha	uc002ths.2	O14715	OTTHUMG00000153289	ENST00000302558.3:c.5278C>G	2.37:g.113127775G>C	ENSP00000306637:p.Pro1760Ala					RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	p.P1760A	NM_001164463.1	NP_001157935.1					23	5469	-								Q5CZA8	Missense_Mutation	SNP	ENST00000302558.3	37	c.5278C>G	CCDS46394.1	.	.	.	.	.	.	.	.	.	.	g	0.008	-1.892319	0.00522	.	.	ENSG00000169629	ENST00000302558;ENST00000409750	T;T	0.36520	1.25;1.25	0.719	0.719	0.18208	.	.	.	.	.	T	0.11239	0.0274	N	0.02011	-0.69	0.58432	D	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.18650	-1.0330	9	0.10902	T	0.67	-6.3628	6.3935	0.21599	0.0:0.6881:0.3119:0.0	.	1760	O14715	RGPD8_HUMAN	A	1760;1620	ENSP00000306637:P1760A;ENSP00000386511:P1620A	ENSP00000306637:P1760A	P	-	1	0	RGPD8	112844246	0.746000	0.28272	0.842000	0.33263	0.015000	0.08874	0.243000	0.18106	-0.105000	0.12132	-1.123000	0.02005	CCT		0.308	RGPD8-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375951.1	XM_001722279		3	26	0	0	0	1	0	3	26				
NSUN5	55695	broad.mit.edu	37	7	72717996	72717996	+	Silent	SNP	G	G	C			TCGA-EM-A3ST-01A-11D-A22Z-08	TCGA-EM-A3ST-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c697c70c-6fab-4a19-8ea3-07089ce52e74	d1a1b16d-d9c2-4775-a1a3-0d733a9ca72f	g.chr7:72717996G>C	ENST00000252594.6	-	8	987	c.972C>G	c.(970-972)ggC>ggG	p.G324G	NSUN5_ENST00000438747.2_Silent_p.G324G|NSUN5_ENST00000310326.8_Silent_p.G324G|NSUN5_ENST00000428206.1_Silent_p.G286G			Q96P11	NSUN5_HUMAN	NOP2/Sun domain family, member 5	324					rRNA processing (GO:0006364)	nucleolus (GO:0005730)|nucleus (GO:0005634)	methyltransferase activity (GO:0008168)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8		Lung NSC(55;0.163)				GGCTAGGTGTGCCTGCCCCGG	0.607																																						ENST00000428206.1																			0				breast(1)|endometrium(3)|large_intestine(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	8						c.(856-858)ggC>ggG		NOP2/Sun domain family, member 5							42.0	46.0	45.0					7																	72717996		2203	4300	6503	SO:0001819	synonymous_variant	55695						methyltransferase activity	g.chr7:72717996G>C	AF420249	CCDS5546.1, CCDS5547.1, CCDS55118.1, CCDS55119.1	7q11.23	2010-04-08	2009-11-23	2005-01-14	ENSG00000130305	ENSG00000130305		"""NOP2/Sun domain containing"""	16385	protein-coding gene	gene with protein product	"""NOP2/Sun domain family, member 5A"""	615732	"""Williams Beuren syndrome chromosome region 20A"", ""NOL1/NOP2/Sun domain family, member 5"""	WBSCR20, WBSCR20A		11978965, 12073013	Standard	NM_148956		Approved	NOL1R, p120, (NOL1), FLJ10267, NSUN5A, Ynl022cL	uc011kev.2	Q96P11	OTTHUMG00000129869	ENST00000252594.6:c.972C>G	7.37:g.72717996G>C						NSUN5_ENST00000310326.8_Silent_p.G324G|NSUN5_ENST00000252594.6_Silent_p.G324G|NSUN5_ENST00000438747.2_Silent_p.G324G	p.G286G	NM_001168348.1	NP_001161820.1	Q96P11	NSUN5_HUMAN			8	871	-		Lung NSC(55;0.163)	324			S-adenosyl-L-methionine binding.		B3KX04|B4DP79|G3V0G9|Q6ZUI8|Q96HT9|Q9NW70	Silent	SNP	ENST00000252594.6	37	c.858C>G	CCDS5547.1																																																																																				0.607	NSUN5-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000252113.1	NM_148956		3	32	0	0	0	1	0	3	32				
AQP7	364	broad.mit.edu	37	9	33385614	33385614	+	Missense_Mutation	SNP	A	A	T			TCGA-EM-A3ST-01A-11D-A22Z-08	TCGA-EM-A3ST-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c697c70c-6fab-4a19-8ea3-07089ce52e74	d1a1b16d-d9c2-4775-a1a3-0d733a9ca72f	g.chr9:33385614A>T	ENST00000541274.1	-	5	830	c.381T>A	c.(379-381)agT>agA	p.S127R	AQP7_ENST00000539936.1_3'UTR|AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000377425.4_Intron			O14520	AQP7_HUMAN	aquaporin 7	0					excretion (GO:0007588)|generation of precursor metabolites and energy (GO:0006091)|glycerol transport (GO:0015793)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	glycerol channel activity (GO:0015254)|water channel activity (GO:0015250)			NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17			LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)		CCACAGAAAAACTCAAAGGAA	0.632																																						ENST00000541274.1																			0				NS(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(4)|skin(2)|stomach(1)	17						c.(379-381)agT>agA		aquaporin 7							36.0	43.0	41.0					9																	33385614		2199	4296	6495	SO:0001583	missense	364				excretion|generation of precursor metabolites and energy	cell-cell junction|cytoplasm|integral to plasma membrane	glycerol channel activity|water channel activity	g.chr9:33385614A>T	AB006190	CCDS6541.1	9p13	2008-02-05			ENSG00000165269	ENSG00000165269		"""Ion channels / Aquaporins"""	640	protein-coding gene	gene with protein product		602974		AQP7L		9252401	Standard	NM_001170		Approved	AQP9, AQPap	uc003zst.3	O14520	OTTHUMG00000019773	ENST00000541274.1:c.381T>A	9.37:g.33385614A>T	ENSP00000438860:p.Ser127Arg					AQP7_ENST00000377425.4_Intron|AQP7_ENST00000537089.1_3'UTR|AQP7_ENST00000539936.1_3'UTR	p.S127R			O14520	AQP7_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00788)	GBM - Glioblastoma multiforme(74;0.191)	5	830	-			0					Q08E94|Q5T5L9|Q8NHM3	Missense_Mutation	SNP	ENST00000541274.1	37	c.381T>A		.	.	.	.	.	.	.	.	.	.	a	7.886	0.731251	0.15507	.	.	ENSG00000165269	ENST00000541274	T	0.54479	0.57	3.27	-5.32	0.02722	.	.	.	.	.	T	0.32164	0.0820	.	.	.	0.09310	N	1	B	0.21905	0.062	B	0.16289	0.015	T	0.25710	-1.0124	8	0.87932	D	0	.	2.0158	0.03497	0.1768:0.1404:0.4062:0.2767	.	127	B7Z7F6	.	R	127	ENSP00000438860:S127R	ENSP00000438860:S127R	S	-	3	2	AQP7	33375614	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	-0.696000	0.05104	-1.265000	0.02449	0.449000	0.29647	AGT		0.632	AQP7-204	KNOWN	basic	protein_coding	protein_coding		NM_001170		4	67	0	0	0	1	0	4	67				
OR4N5	390437	broad.mit.edu	37	14	20612098	20612098	+	Missense_Mutation	SNP	A	A	C			TCGA-EM-A3ST-01A-11D-A22Z-08	TCGA-EM-A3ST-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c697c70c-6fab-4a19-8ea3-07089ce52e74	d1a1b16d-d9c2-4775-a1a3-0d733a9ca72f	g.chr14:20612098A>C	ENST00000333629.1	+	1	204	c.204A>C	c.(202-204)ttA>ttC	p.L68F	RNA5SP381_ENST00000516076.1_RNA	NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	olfactory receptor, family 4, subfamily N, member 5	68						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29	all_cancers(95;0.00108)		Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)		ACTTGGCCTTACTGGATGCAT	0.478																																						ENST00000333629.1																			0				endometrium(2)|lung(23)|ovary(1)|skin(2)|urinary_tract(1)	29						c.(202-204)ttA>ttC		olfactory receptor, family 4, subfamily N, member 5							180.0	184.0	182.0					14																	20612098		2203	4300	6503	SO:0001583	missense	390437				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20612098A>C		CCDS32031.1	14q11.2	2013-09-23			ENSG00000184394	ENSG00000184394		"""GPCR / Class A : Olfactory receptors"""	15358	protein-coding gene	gene with protein product							Standard	NM_001004724		Approved		uc010tla.2	Q8IXE1	OTTHUMG00000170784	ENST00000333629.1:c.204A>C	14.37:g.20612098A>C	ENSP00000332110:p.Leu68Phe						p.L68F	NM_001004724.1	NP_001004724.1	Q8IXE1	OR4N5_HUMAN	Epithelial(56;7.58e-07)|all cancers(55;3.84e-06)	GBM - Glioblastoma multiforme(265;0.0143)	1	204	+	all_cancers(95;0.00108)		68					Q6IF11	Missense_Mutation	SNP	ENST00000333629.1	37	c.204A>C	CCDS32031.1	.	.	.	.	.	.	.	.	.	.	A	0.050	-1.253324	0.01457	.	.	ENSG00000184394	ENST00000333629	T	0.00363	7.82	3.99	1.15	0.20763	GPCR, rhodopsin-like superfamily (1);	0.149997	0.31301	N	0.007900	T	0.00109	0.0003	N	0.02345	-0.59	0.22629	N	0.998917	B	0.02656	0.0	B	0.01281	0.0	T	0.38866	-0.9641	10	0.02654	T	1	.	5.0783	0.14644	0.1664:0.6442:0.0:0.1894	.	68	Q8IXE1	OR4N5_HUMAN	F	68	ENSP00000332110:L68F	ENSP00000332110:L68F	L	+	3	2	OR4N5	19681938	0.000000	0.05858	0.998000	0.56505	0.792000	0.44763	-1.488000	0.02308	0.119000	0.18210	-0.778000	0.03378	TTA		0.478	OR4N5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000410347.1			4	172	0	0	0	1	0	4	172				
WNK2	65268	broad.mit.edu	37	9	96000545	96000545	+	Missense_Mutation	SNP	C	C	T			TCGA-EM-A3ST-01A-11D-A22Z-08	TCGA-EM-A3ST-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c697c70c-6fab-4a19-8ea3-07089ce52e74	d1a1b16d-d9c2-4775-a1a3-0d733a9ca72f	g.chr9:96000545C>T	ENST00000297954.4	+	5	1264	c.1264C>T	c.(1264-1266)Cac>Tac	p.H422Y	WNK2_ENST00000395477.2_Missense_Mutation_p.H422Y|WNK2_ENST00000349097.3_Missense_Mutation_p.H34Y|WNK2_ENST00000427277.2_Missense_Mutation_p.H34Y|WNK2_ENST00000395475.2_Missense_Mutation_p.H408Y|WNK2_ENST00000356055.3_5'UTR	NM_001282394.1	NP_001269323.1	Q9Y3S1	WNK2_HUMAN	WNK lysine deficient protein kinase 2	422	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				intracellular signal transduction (GO:0035556)|negative regulation of cell proliferation (GO:0008285)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|positive regulation of sodium ion transmembrane transporter activity (GO:2000651)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of ion homeostasis (GO:2000021)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						TGAGAAAGTGCACGATCCTGA	0.557																																						ENST00000297954.4																			0				breast(2)|central_nervous_system(1)|endometrium(11)|kidney(4)|large_intestine(5)|lung(17)|ovary(2)|prostate(3)|skin(4)|stomach(3)|upper_aerodigestive_tract(2)	54						c.(1264-1266)Cac>Tac		WNK lysine deficient protein kinase 2							100.0	89.0	93.0					9																	96000545		2203	4300	6503	SO:0001583	missense	65268				intracellular protein kinase cascade		ATP binding|protein binding|protein serine/threonine kinase activity	g.chr9:96000545C>T	AJ242724	CCDS75858.1	9q22.3	2008-02-05	2003-06-23	2005-01-22	ENSG00000165238	ENSG00000165238			14542	protein-coding gene	gene with protein product		606249	"""serologically defined colon cancer antigen 43"""	SDCCAG43, PRKWNK2		9610721, 11571656	Standard	NM_006648		Approved	NY-CO-43, KIAA1760	uc004atj.3	Q9Y3S1	OTTHUMG00000020247	ENST00000297954.4:c.1264C>T	9.37:g.96000545C>T	ENSP00000297954:p.His422Tyr					WNK2_ENST00000395477.2_Missense_Mutation_p.H422Y|WNK2_ENST00000427277.2_Missense_Mutation_p.H34Y|WNK2_ENST00000356055.3_5'UTR|WNK2_ENST00000349097.3_Missense_Mutation_p.H34Y|WNK2_ENST00000395475.2_Missense_Mutation_p.H408Y	p.H422Y			Q9Y3S1	WNK2_HUMAN			5	1264	+			422			Protein kinase.		Q5VWF1|Q5VWF2|Q8IY36|Q9C0A3|Q9H3P4	Missense_Mutation	SNP	ENST00000297954.4	37	c.1264C>T		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	13.14|13.14	2.148751|2.148751	0.37923|0.37923	.|.	.|.	ENSG00000165238|ENSG00000165238	ENST00000411624|ENST00000448039;ENST00000297954;ENST00000395477;ENST00000395475;ENST00000349097;ENST00000427277	.|T;T;T;T;T;T	.|0.22945	.|1.93;1.93;1.93;1.93;1.93;1.93	4.65|4.65	3.75|3.75	0.43078|0.43078	.|Serine/threonine-protein kinase-like domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	.|0.733388	.|0.13246	.|N	.|0.402427	T|T	0.19208|0.19208	0.0461|0.0461	N|N	0.04260|0.04260	-0.245|-0.245	0.58432|0.58432	D|D	0.999997|0.999997	.|D;D;P;D;D	.|0.59357	.|0.962;0.962;0.837;0.962;0.985	.|P;B;B;P;P	.|0.57057	.|0.573;0.373;0.25;0.573;0.812	T|T	0.09335|0.09335	-1.0679|-1.0679	5|10	.|0.52906	.|T	.|0.07	.|.	3.7172|3.7172	0.08442|0.08442	0.208:0.5677:0.1333:0.091|0.208:0.5677:0.1333:0.091	.|.	.|422;422;25;422;422	.|Q9Y3S1-2;Q9Y3S1-4;A6PVR4;F8W9F9;Q9Y3S1	.|.;.;.;.;WNK2_HUMAN	V|Y	25|422;422;422;408;34;34	.|ENSP00000412465:H422Y;ENSP00000297954:H422Y;ENSP00000378860:H422Y;ENSP00000378858:H408Y;ENSP00000297876:H34Y;ENSP00000411181:H34Y	.|ENSP00000297954:H422Y	A|H	+|+	2|1	0|0	WNK2|WNK2	95040366|95040366	0.824000|0.824000	0.29247|0.29247	0.884000|0.884000	0.34674|0.34674	0.870000|0.870000	0.49936|0.49936	2.039000|2.039000	0.41193|0.41193	1.051000|1.051000	0.40369|0.40369	0.561000|0.561000	0.74099|0.74099	GCA|CAC		0.557	WNK2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000317359.1	NM_006648		3	30	0	0	0	1	0	3	30				
SHCBP1	79801	broad.mit.edu	37	16	46629511	46629511	+	Missense_Mutation	SNP	T	T	G			TCGA-EM-A3ST-01A-11D-A22Z-08	TCGA-EM-A3ST-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c697c70c-6fab-4a19-8ea3-07089ce52e74	d1a1b16d-d9c2-4775-a1a3-0d733a9ca72f	g.chr16:46629511T>G	ENST00000303383.3	-	10	1683	c.1417A>C	c.(1417-1419)Aca>Cca	p.T473P		NM_024745.4	NP_079021	Q8NEM2	SHCBP_HUMAN	SHC SH2-domain binding protein 1	473					fibroblast growth factor receptor signaling pathway (GO:0008543)|regulation of neural precursor cell proliferation (GO:2000177)					breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)				TCTGCTGATGTCCGCACTGTG	0.453																																						ENST00000303383.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(7)|ovary(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						c.(1417-1419)Aca>Cca		SHC SH2-domain binding protein 1							104.0	93.0	96.0					16																	46629511		2203	4300	6503	SO:0001583	missense	79801							g.chr16:46629511T>G	AK055931	CCDS10720.1	16q11	2008-02-05			ENSG00000171241	ENSG00000171241			29547	protein-coding gene	gene with protein product		611027				10086341	Standard	NM_024745		Approved	FLJ22009	uc002eec.4	Q8NEM2	OTTHUMG00000132540	ENST00000303383.3:c.1417A>C	16.37:g.46629511T>G	ENSP00000306473:p.Thr473Pro						p.T473P	NM_024745.4	NP_079021.3	Q8NEM2	SHCBP_HUMAN			10	1683	-		all_cancers(37;0.00404)|all_epithelial(9;0.00527)|all_lung(18;0.0413)|Lung NSC(13;0.213)	473					Q96N60|Q9BVS0|Q9H6P6	Missense_Mutation	SNP	ENST00000303383.3	37	c.1417A>C	CCDS10720.1	.	.	.	.	.	.	.	.	.	.	T	13.78	2.339600	0.41398	.	.	ENSG00000171241	ENST00000303383	T	0.42900	0.96	4.03	4.03	0.46877	Pectin lyase fold/virulence factor (1);Pectin lyase fold (1);	0.104529	0.64402	D	0.000004	T	0.55257	0.1909	L	0.53249	1.67	0.47778	D	0.999512	D	0.69078	0.997	D	0.68621	0.959	T	0.51663	-0.8677	10	0.28530	T	0.3	-11.6596	13.1453	0.59459	0.0:0.0:0.0:1.0	.	473	Q8NEM2	SHCBP_HUMAN	P	473	ENSP00000306473:T473P	ENSP00000306473:T473P	T	-	1	0	SHCBP1	45187012	1.000000	0.71417	0.134000	0.22075	0.127000	0.20565	3.915000	0.56409	1.695000	0.51148	0.533000	0.62120	ACA		0.453	SHCBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255740.1	NM_024745		24	22	0	0	0	1	0	24	22				
EIF1AX	1964	broad.mit.edu	37	X	20148692	20148692	+	Missense_Mutation	SNP	C	C	A			TCGA-EM-A3ST-01A-11D-A22Z-08	TCGA-EM-A3ST-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c697c70c-6fab-4a19-8ea3-07089ce52e74	d1a1b16d-d9c2-4775-a1a3-0d733a9ca72f	g.chrX:20148692C>A	ENST00000379607.5	-	6	574	c.371G>T	c.(370-372)gGa>gTa	p.G124V	EIF1AX_ENST00000379593.1_Missense_Mutation_p.G96V	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN	eukaryotic translation initiation factor 1A, X-linked	124					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)	poly(A) RNA binding (GO:0044822)|translation factor activity, nucleic acid binding (GO:0008135)|translation initiation factor activity (GO:0003743)			endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						ATCATCATCTCCAGGACCAAA	0.328																																						ENST00000379607.5																			0				endometrium(2)|lung(1)|ovary(1)|prostate(1)	5						c.(370-372)gGa>gTa		eukaryotic translation initiation factor 1A, X-linked							167.0	134.0	145.0					X																	20148692		2203	4297	6500	SO:0001583	missense	1964					cytosol	translation initiation factor activity	g.chrX:20148692C>A	L18960	CCDS14196.1	Xp22.13	2014-02-19	2002-11-28	2004-05-26	ENSG00000173674	ENSG00000173674			3250	protein-coding gene	gene with protein product		300186	"""eukaryotic translation initiation factor 1A, X chromosome"""	EIF4C, EIF1A		8106356, 9381176	Standard	NM_001412		Approved	eIF-1A, eIF-4C	uc004czt.3	P47813	OTTHUMG00000022704	ENST00000379607.5:c.371G>T	X.37:g.20148692C>A	ENSP00000368927:p.Gly124Val					EIF1AX_ENST00000379593.1_Missense_Mutation_p.G96V	p.G124V	NM_001412.3	NP_001403.1	P47813	IF1AX_HUMAN			6	574	-			124					B2R5U5|Q0VGC2|Q5JPS5|Q5JPS6	Missense_Mutation	SNP	ENST00000379607.5	37	c.371G>T	CCDS14196.1	.	.	.	.	.	.	.	.	.	.	C	15.43	2.831345	0.50845	.	.	ENSG00000173674	ENST00000379607;ENST00000379593	T;T	0.43688	0.94;0.94	4.82	4.82	0.62117	Nucleic acid-binding, OB-fold-like (1);Nucleic acid-binding, OB-fold (1);	.	.	.	.	T	0.43433	0.1247	L	0.50333	1.59	0.80722	D	1	B	0.28512	0.214	B	0.34301	0.179	T	0.35301	-0.9794	9	0.36615	T	0.2	-34.5406	17.1436	0.86760	0.0:1.0:0.0:0.0	.	124	P47813	IF1AX_HUMAN	V	124;96	ENSP00000368927:G124V;ENSP00000368912:G96V	ENSP00000368912:G96V	G	-	2	0	EIF1AX	20058613	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.399000	0.66314	1.967000	0.57214	0.594000	0.82650	GGA		0.328	EIF1AX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058913.1			22	43	1	0	1.50039e-11	1	1.58865e-11	22	43				
RAB6B	51560	broad.mit.edu	37	3	133558368	133558368	+	Missense_Mutation	SNP	G	G	A	rs201627683		TCGA-EM-A3ST-01A-11D-A22Z-08	TCGA-EM-A3ST-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c697c70c-6fab-4a19-8ea3-07089ce52e74	d1a1b16d-d9c2-4775-a1a3-0d733a9ca72f	g.chr3:133558368G>A	ENST00000285208.4	-	5	732	c.383C>T	c.(382-384)aCg>aTg	p.T128M	RAB6B_ENST00000469959.1_Intron|RAB6B_ENST00000543906.1_Missense_Mutation_p.T128M|RAB6B_ENST00000486858.1_Missense_Mutation_p.T115M	NM_016577.3	NP_057661.3	Q9NRW1	RAB6B_HUMAN	RAB6B, member RAS oncogene family	128					GTP catabolic process (GO:0006184)|protein transport (GO:0015031)|retrograde vesicle-mediated transport, Golgi to ER (GO:0006890)|small GTPase mediated signal transduction (GO:0007264)	cytoplasmic vesicle (GO:0031410)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|myosin V binding (GO:0031489)			NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	11						AGCCAGGTCCGTCTTGTTGCC	0.562													G|||	1	0.000199681	0.0	0.0	5008	,	,		22818	0.001		0.0	False		,,,				2504	0.0					ENST00000285208.4																			0				NS(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|pancreas(1)	11						c.(382-384)aCg>aTg		RAB6B, member RAS oncogene family							242.0	182.0	202.0					3																	133558368		2203	4300	6503	SO:0001583	missense	51560				protein transport|retrograde vesicle-mediated transport, Golgi to ER|small GTPase mediated signal transduction	cytoplasmic membrane-bounded vesicle|Golgi membrane	GTP binding|GTPase activity|protein binding	g.chr3:133558368G>A	AF166492	CCDS3082.1	3q22.1	2008-05-15			ENSG00000154917	ENSG00000154917		"""RAB, member RAS oncogene"""	14902	protein-coding gene	gene with protein product		615852					Standard	NM_016577		Approved		uc003epy.3	Q9NRW1	OTTHUMG00000159749	ENST00000285208.4:c.383C>T	3.37:g.133558368G>A	ENSP00000285208:p.Thr128Met					RAB6B_ENST00000486858.1_Missense_Mutation_p.T115M|RAB6B_ENST00000469959.1_Intron|RAB6B_ENST00000543906.1_Missense_Mutation_p.T128M	p.T128M	NM_016577.3	NP_057661.3	Q9NRW1	RAB6B_HUMAN			5	732	-			128					B2R5Z9|B7Z337|D3DND3|Q92929	Missense_Mutation	SNP	ENST00000285208.4	37	c.383C>T	CCDS3082.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	G	23.0	4.362173	0.82353	.	.	ENSG00000154917	ENST00000285208;ENST00000543906;ENST00000486858;ENST00000477759;ENST00000460865	T;T;T;T;T	0.79749	-1.3;-1.3;-1.3;-1.3;-1.07	5.08	4.2	0.49525	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.83566	0.5282	L	0.38692	1.165	0.80722	D	1	D;D	0.89917	1.0;0.997	D;D	0.69479	0.964;0.957	D	0.85022	0.0912	10	0.87932	D	0	-8.0009	12.6149	0.56571	0.0818:0.0:0.9182:0.0	.	115;128	B7Z337;Q9NRW1	.;RAB6B_HUMAN	M	128;128;115;95;74	ENSP00000285208:T128M;ENSP00000437797:T128M;ENSP00000419381:T115M;ENSP00000419941:T95M;ENSP00000419526:T74M	ENSP00000285208:T128M	T	-	2	0	RAB6B	135041058	1.000000	0.71417	0.996000	0.52242	0.981000	0.71138	9.069000	0.93967	1.267000	0.44247	0.655000	0.94253	ACG		0.562	RAB6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357152.1			33	40	0	0	0	1	0	33	40				
LOC101927237	101927237	broad.mit.edu	37	4	68311853	68311855	+	lincRNA	DEL	GAG	GAG	-			TCGA-EM-A3ST-01A-11D-A22Z-08	TCGA-EM-A3ST-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c697c70c-6fab-4a19-8ea3-07089ce52e74	d1a1b16d-d9c2-4775-a1a3-0d733a9ca72f	g.chr4:68311853_68311855delGAG	ENST00000502400.1	-	0	34																											TCTCTATGGCGAGGAGGAGGAGG	0.547																																						ENST00000502400.1																			0																																																			0							g.chr4:68311853_68311855delGAG																													4.37:g.68311862_68311864delGAG														0	34	-									RNA	DEL	ENST00000502400.1	37																																																																																						0.547	RP11-584P21.2-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000361926.2			2	4						2	4	---	---	---	---
TRERF1	55809	broad.mit.edu	37	6	42204105	42204106	+	In_Frame_Ins	INS	-	-	TCC	rs146190272|rs373986015|rs111816381	byFrequency	TCGA-EM-A3ST-01A-11D-A22Z-08	TCGA-EM-A3ST-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c697c70c-6fab-4a19-8ea3-07089ce52e74	d1a1b16d-d9c2-4775-a1a3-0d733a9ca72f	g.chr6:42204105_42204106insTCC	ENST00000372922.4	-	16	3465_3466	c.2903_2904insGGA	c.(2902-2904)gac>gaGGAc	p.967_968insE	TRERF1_ENST00000541110.1_In_Frame_Ins_p.987_988insE|TRERF1_ENST00000354325.2_In_Frame_Ins_p.884_885insE|TRERF1_ENST00000340840.2_In_Frame_Ins_p.884_885insE|TRERF1_ENST00000372917.4_In_Frame_Ins_p.884_885insE	NM_033502.2	NP_277037.1	Q96PN7	TREF1_HUMAN	transcriptional regulating factor 1	967	Glu-rich.|Interacts with CREBBP.				cholesterol catabolic process (GO:0006707)|homeostatic process (GO:0042592)|multicellular organismal development (GO:0007275)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of hormone biosynthetic process (GO:0046885)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|steroid biosynthetic process (GO:0006694)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding, bending (GO:0008301)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|metal ion binding (GO:0046872)|RNA polymerase II transcription cofactor activity (GO:0001104)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)			CTTCTTCCGGGtcctcctcctc	0.53														199	0.0397364	0.1392	0.0187	5008	,	,		18590	0.0		0.0	False		,,,				2504	0.002					ENST00000541110.1																			0				breast(1)|central_nervous_system(2)|endometrium(7)|kidney(1)|large_intestine(12)|lung(13)|ovary(3)|pancreas(1)|skin(3)|urinary_tract(2)	45						c.(2962-2964)gcc>gGGAcc		transcriptional regulating factor 1																																				SO:0001652	inframe_insertion	55809				cholesterol catabolic process|homeostatic process|multicellular organismal development|positive regulation of transcription, DNA-dependent|regulation of hormone biosynthetic process|steroid biosynthetic process	nucleus	DNA bending activity|ligand-dependent nuclear receptor transcription coactivator activity|RNA polymerase II transcription cofactor activity|sequence-specific DNA binding transcription factor activity|transcription factor binding|zinc ion binding	g.chr6:42204105_42204106insTCC	AF297872	CCDS4867.1, CCDS75455.1	6p21.1-p12.1	2012-09-25			ENSG00000124496	ENSG00000124496			18273	protein-coding gene	gene with protein product		610322	"""breast cancer anti-estrogen resistance 2"""	BCAR2		11349124	Standard	XM_005249223		Approved	TReP-132, HSA277276, RAPA, dJ139D8.5	uc003osd.2	Q96PN7	OTTHUMG00000014698	ENST00000372922.4:c.2901_2903dupGGA	6.37:g.42204112_42204114dupTCC	ENSP00000362013:p.Glu967_Glu967dup					TRERF1_ENST00000372917.4_In_Frame_Ins_p.885_885A>GT|TRERF1_ENST00000340840.2_In_Frame_Ins_p.885_885A>GT|TRERF1_ENST00000354325.2_In_Frame_Ins_p.885_885A>GT|TRERF1_ENST00000372922.4_In_Frame_Ins_p.968_968A>GT	p.988_988A>GT			Q96PN7	TREF1_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)		16	3531_3532	-	Colorectal(47;0.196)		968			Interacts with CREBBP.		Q05GC6|Q7Z6T2|Q7Z6T3|Q9NQ72|Q9NQ73|Q9NUN9	In_Frame_Ins	INS	ENST00000372922.4	37	c.2963_2964insGGA	CCDS4867.1																																																																																				0.530	TRERF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040551.2	NM_033502		3	3						3	3	---	---	---	---
MSLNL	401827	broad.mit.edu	37	16	830765	830766	+	Intron	INS	-	-	CAG	rs550446343|rs370853100	byFrequency	TCGA-EM-A3ST-01A-11D-A22Z-08	TCGA-EM-A3ST-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c697c70c-6fab-4a19-8ea3-07089ce52e74	d1a1b16d-d9c2-4775-a1a3-0d733a9ca72f	g.chr16:830765_830766insCAG	ENST00000442466.1	-	2	37				MSLNL_ENST00000293892.3_In_Frame_Ins_p.78_79insA			Q96KJ4	MSLNL_HUMAN	mesothelin-like						cell adhesion (GO:0007155)	integral component of membrane (GO:0016021)				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						CGGGTAGGTGACGGTGTGCACG	0.589																																						ENST00000293892.3																			0				breast(4)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(15)|ovary(2)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	36						c.(235-237)cac>CTGcac		mesothelin-like																																				SO:0001627	intron_variant	401827				cell adhesion	integral to membrane		g.chr16:830765_830766insCAG			16p13.3	2008-08-06	2008-07-04	2008-07-04	ENSG00000162006	ENSG00000162006			14170	protein-coding gene	gene with protein product			"""chromosome 16 open reading frame 37"""	C16orf37			Standard	NG_032123		Approved	MPFL		Q96KJ4		ENST00000442466.1:c.38-603->CTG	16.37:g.830765_830766insCAG						MSLNL_ENST00000442466.1_Intron	p.78_79insL			Q96KJ4	MSLNL_HUMAN			3	234_235	-			0						In_Frame_Ins	INS	ENST00000442466.1	37	c.235_236insCTG																																																																																					0.589	MSLNL-202	KNOWN	basic|appris_candidate	protein_coding	protein_coding		NM_001025190		10	36						10	36	---	---	---	---
MTSS1L	92154	broad.mit.edu	37	16	70699375	70699375	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EM-A3ST-01A-11D-A22Z-08	TCGA-EM-A3ST-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c697c70c-6fab-4a19-8ea3-07089ce52e74	d1a1b16d-d9c2-4775-a1a3-0d733a9ca72f	g.chr16:70699375delG	ENST00000338779.6	-	12	1396	c.1122delC	c.(1120-1122)cccfs	p.P374fs	FLJ00418_ENST00000597002.1_3'UTR	NM_138383.2	NP_612392.1	Q765P7	MTSSL_HUMAN	metastasis suppressor 1-like	374	Ser-rich.				filopodium assembly (GO:0046847)|signal transduction (GO:0007165)					breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1)	7						TGACCGAGGTGGGGGAGCTGC	0.652																																						ENST00000338779.6																			0				breast(1)|central_nervous_system(2)|endometrium(1)|liver(1)|lung(1)|skin(1)	7						c.(1120-1122)ccfs		metastasis suppressor 1-like							27.0	24.0	25.0					16																	70699375		2164	4246	6410	SO:0001589	frameshift_variant	92154				filopodium assembly|signal transduction		actin binding|cytoskeletal adaptor activity|SH3 domain binding	g.chr16:70699375delG		CCDS32476.1	16q22.1	2008-12-16				ENSG00000132613			25094	protein-coding gene	gene with protein product	"""actin-bundling protein with BAIAP2 homology"""					12477932	Standard	XM_006721335		Approved	ABBA-1, LOC92154	uc002ezj.3	Q765P7		ENST00000338779.6:c.1122delC	16.37:g.70699375delG	ENSP00000341171:p.Pro374fs					FLJ00418_ENST00000597002.1_3'UTR	p.P374fs	NM_138383.2	NP_612392.1	Q765P7	MTSSL_HUMAN			12	1396	-			374			Ser-rich.		A6NJI7|Q9BUA8	Frame_Shift_Del	DEL	ENST00000338779.6	37	c.1122delC	CCDS32476.1																																																																																				0.652	MTSS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434927.3	NM_138383		2	4						2	4	---	---	---	---
KRTAP4-1	85285	broad.mit.edu	37	17	39340796	39340852	+	In_Frame_Del	DEL	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	CGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	-	rs483929|rs543483191|rs79048996|rs1985673|rs2320229|rs483893|rs572749|rs543006020|rs71155126|rs554407371|rs2320230	byFrequency	TCGA-EM-A3ST-01A-11D-A22Z-08	TCGA-EM-A3ST-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c697c70c-6fab-4a19-8ea3-07089ce52e74	d1a1b16d-d9c2-4775-a1a3-0d733a9ca72f	g.chr17:39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	ENST00000398472.1	-	1	742_798	c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG	c.(253-312)cgcccactctgctgtcagaccacctgccaccccagctgtggtatgtccagctgctgccgt>cgt	p.85_104RPLCCQTTCHPSCGMSSCCR>R				Q9BYQ7	KRA41_HUMAN	keratin associated protein 4-1	85	18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL].		Missing (in allele KAP4.10). {ECO:0000269|PubMed:15955084}.			keratin filament (GO:0045095)		p.H90_C108delHPSCGMSSCCRPLCCQTTC(2)|p.H94_C112delHPSCGMSSCCRPLCCQTTC(2)		kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5		Breast(137;0.000496)	STAD - Stomach adenocarcinoma(17;0.000449)			ACAGAGTGGACGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGGCGGCAGCAGC	0.646																																						ENST00000398472.1																			4	Deletion - In frame(4)	p.H90_C108delHPSCGMSSCCRPLCCQTTC(2)|p.H94_C112delHPSCGMSSCCRPLCCQTTC(2)	upper_aerodigestive_tract(2)|prostate(2)	kidney(1)|large_intestine(1)|lung(1)|prostate(1)|upper_aerodigestive_tract(1)	5						c.(253-312)cgt>cg		keratin associated protein 4-1																																				SO:0001651	inframe_deletion	85285					keratin filament		g.chr17:39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	AC006070		17q21.2	2013-06-25			ENSG00000198443	ENSG00000198443		"""Keratin associated proteins"""	18907	protein-coding gene	gene with protein product			"""keratin associated protein 4-10"""	KRTAP4-10		11279113	Standard	NM_033060		Approved	KAP4.1, KAP4.10	uc002hwe.4	Q9BYQ7	OTTHUMG00000132081	ENST00000398472.1:c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG	17.37:g.39340796_39340852delCGGCAGCAGCTGGACATACCACAGCTGGGGTGGCAGGTGGTCTGACAGCAGAGTGGG	ENSP00000381489:p.Arg85_Cys103del						p.RPLCCQTTCHPSCGMSSCCR85del			Q9BYQ7	KRA41_HUMAN	STAD - Stomach adenocarcinoma(17;0.000449)		1	742_798	-		Breast(137;0.000496)	85		Missing (in allele KAP4.10).	18 X 5 AA repeats of C-C-[GRQC]-[SPT]- [VSTL].		A8MWS7|Q3SYF2	In_Frame_Del	DEL	ENST00000398472.1	37	c.255_311delCCCACTCTGCTGTCAGACCACCTGCCACCCCAGCTGTGGTATGTCCAGCTGCTGCCG																																																																																					0.646	KRTAP4-1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000255108.1	NM_033060		66	21						66	21	---	---	---	---
FN3KRP	79672	broad.mit.edu	37	17	80684416	80684421	+	In_Frame_Del	DEL	ATGGAC	ATGGAC	-			TCGA-EM-A3ST-01A-11D-A22Z-08	TCGA-EM-A3ST-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c697c70c-6fab-4a19-8ea3-07089ce52e74	d1a1b16d-d9c2-4775-a1a3-0d733a9ca72f	g.chr17:80684416_80684421delATGGAC	ENST00000269373.6	+	5	602_607	c.529_534delATGGAC	c.(529-534)atggacdel	p.MD177del	RP11-388C12.5_ENST00000570919.1_lincRNA|FN3KRP_ENST00000535965.1_In_Frame_Del_p.MD127del	NM_024619.3	NP_078895.2	Q9HA64	KT3K_HUMAN	fructosamine 3 kinase related protein	177							kinase activity (GO:0016301)			breast(1)|large_intestine(2)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	7	Breast(20;0.000523)|all_neural(118;0.0952)		BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			TCAGCCCCAGATGGACATGGTGGAGA	0.597																																						ENST00000269373.6																			0				breast(1)|large_intestine(2)|lung(1)|ovary(2)|upper_aerodigestive_tract(1)	7						c.(529-534)del		fructosamine 3 kinase related protein																																				SO:0001651	inframe_deletion	79672						kinase activity	g.chr17:80684416_80684421delATGGAC	AY360465	CCDS11817.1	17q25.3	2014-08-12			ENSG00000141560	ENSG00000141560			25700	protein-coding gene	gene with protein product		611683				14633848	Standard	NM_024619		Approved	FLJ12171, FN3KL	uc002kfu.3	Q9HA64	OTTHUMG00000177846	ENST00000269373.6:c.529_534delATGGAC	17.37:g.80684416_80684421delATGGAC	ENSP00000269373:p.Met177_Asp178del					FN3KRP_ENST00000535965.1_In_Frame_Del_p.MD127del	p.MD177del	NM_024619.3	NP_078895.2	Q9HA64	KT3K_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0344)|OV - Ovarian serous cystadenocarcinoma(97;0.061)		5	602_607	+	Breast(20;0.000523)|all_neural(118;0.0952)		177					Q969F4|Q9H0U7	In_Frame_Del	DEL	ENST00000269373.6	37	c.529_534delATGGAC	CCDS11817.1																																																																																				0.597	FN3KRP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439219.1	NM_024619		41	85						41	85	---	---	---	---
DENND6B	414918	broad.mit.edu	37	22	50751471	50751471	+	Frame_Shift_Del	DEL	G	G	-			TCGA-EM-A3ST-01A-11D-A22Z-08	TCGA-EM-A3ST-11A-11D-A22Z-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	c697c70c-6fab-4a19-8ea3-07089ce52e74	d1a1b16d-d9c2-4775-a1a3-0d733a9ca72f	g.chr22:50751471delG	ENST00000413817.3	-	17	1485	c.1414delC	c.(1414-1416)cagfs	p.Q472fs	XX-C283C717.1_ENST00000453835.1_RNA	NM_001001794.3	NP_001001794.3	Q8NEG7	DEN6B_HUMAN	DENN/MADD domain containing 6B	472					positive regulation of Rab GTPase activity (GO:0032851)	endosome (GO:0005768)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)										CAGGTGAGCTGGGGCCCAGCA	0.647																																						ENST00000413817.2																			0											c.(1414-1416)agfs		DENN/MADD domain containing 6B							20.0	24.0	23.0					22																	50751471		2094	4181	6275	SO:0001589	frameshift_variant	414918							g.chr22:50751471delG	AK054743	CCDS46732.1	22q13.33	2012-10-03	2012-10-03	2012-10-03	ENSG00000205593	ENSG00000205593		"""DENN/MADD domain containing"""	32690	protein-coding gene	gene with protein product			"""family with sequence similarity 116, member B"""	FAM116B		21330364	Standard	NM_001001794		Approved	MGC33692, AFI1B	uc011arv.1	Q8NEG7	OTTHUMG00000150210	ENST00000413817.3:c.1414delC	22.37:g.50751471delG	ENSP00000391524:p.Gln472fs						p.Q472fs	NM_001001794.3	NP_001001794.3					17	1485	-								A6X8I5	Frame_Shift_Del	DEL	ENST00000413817.3	37	c.1414delC	CCDS46732.1																																																																																				0.647	DENND6B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316845.3	NM_001001794		2	4						2	4	---	---	---	---
