#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
SNX20	124460	broad.mit.edu	37	16	50707709	50707709	+	Missense_Mutation	SNP	G	G	T			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr16:50707709G>T	ENST00000330943.4	-	4	730	c.559C>A	c.(559-561)Ccg>Acg	p.P187T	SNX20_ENST00000300590.3_Intron|RP11-401P9.5_ENST00000570241.2_RNA|RP11-401P9.5_ENST00000570167.1_RNA|SNX20_ENST00000423026.2_Intron	NM_182854.2	NP_878274.1	Q7Z614	SNX20_HUMAN	sorting nexin 20	187	PX. {ECO:0000255|PROSITE- ProRule:PRU00147}.				protein transport (GO:0015031)	endosome (GO:0005768)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	phosphatidylinositol binding (GO:0035091)			kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						CGCAGCTCCGGCCGCGTGAGG	0.726																																						ENST00000330943.4																			0				kidney(1)|large_intestine(3)|lung(5)|ovary(2)|prostate(1)|skin(2)|stomach(1)	15						c.(559-561)Ccg>Acg		sorting nexin 20							11.0	13.0	12.0					16																	50707709		2190	4291	6481	SO:0001583	missense	124460				cell communication|protein transport	endosome membrane|nucleus|plasma membrane	phosphatidylinositol binding|protein binding	g.chr16:50707709G>T	AK055837	CCDS10745.1, CCDS10744.1, CCDS45481.1	16q12.1	2008-03-25	2008-03-25		ENSG00000167208	ENSG00000167208		"""Sorting nexins"""	30390	protein-coding gene	gene with protein product	"""selectin ligand interactor cytoplasmic 1"""	613281				18196517, 16782399	Standard	NM_182854		Approved	SLIC-1, SLIC1	uc002egk.2	Q7Z614	OTTHUMG00000133173	ENST00000330943.4:c.559C>A	16.37:g.50707709G>T	ENSP00000332062:p.Pro187Thr					SNX20_ENST00000423026.2_Intron|SNX20_ENST00000300590.3_Intron	p.P187T	NM_182854.2	NP_878274.1	Q7Z614	SNX20_HUMAN			4	730	-			187			PX.		A8K9D5|Q08E98|Q6P4H2|Q8IV59	Missense_Mutation	SNP	ENST00000330943.4	37	c.559C>A	CCDS10745.1	.	.	.	.	.	.	.	.	.	.	G	15.87	2.961304	0.53400	.	.	ENSG00000167208	ENST00000330943	T	0.30182	1.54	5.63	4.65	0.58169	Phox homologous domain (4);	0.476115	0.23870	N	0.043754	T	0.52789	0.1756	M	0.75264	2.295	0.20926	N	0.999826	D	0.64830	0.994	D	0.63793	0.918	T	0.44636	-0.9315	10	0.40728	T	0.16	-37.9801	15.7	0.77536	0.0:0.171:0.829:0.0	.	187	Q7Z614	SNX20_HUMAN	T	187	ENSP00000332062:P187T	ENSP00000332062:P187T	P	-	1	0	SNX20	49265210	1.000000	0.71417	1.000000	0.80357	0.096000	0.18686	4.083000	0.57643	2.664000	0.90586	0.561000	0.74099	CCG		0.726	SNX20-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256879.2	NM_153337		3	8	1	0	0.004672	1	0.00482773	3	8				
SERPINF1	5176	broad.mit.edu	37	17	1675256	1675256	+	Missense_Mutation	SNP	T	T	G			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr17:1675256T>G	ENST00000254722.4	+	5	693	c.530T>G	c.(529-531)cTg>cGg	p.L177R		NM_002615.5	NP_002606.3	P36955	PEDF_HUMAN	serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1	177					aging (GO:0007568)|cell proliferation (GO:0008283)|kidney development (GO:0001822)|multicellular organismal development (GO:0007275)|negative regulation of angiogenesis (GO:0016525)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of inflammatory response (GO:0050728)|positive regulation of neurogenesis (GO:0050769)|regulation of proteolysis (GO:0030162)|response to glucocorticoid (GO:0051384)|response to retinoic acid (GO:0032526)|short-term memory (GO:0007614)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	serine-type endopeptidase inhibitor activity (GO:0004867)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	16						CGCTTGGACCTGCAAGAGATC	0.542																																						ENST00000254722.4																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(1)|large_intestine(4)|lung(2)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|stomach(1)	16						c.(529-531)cTg>cGg		serpin peptidase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1							82.0	76.0	78.0					17																	1675256		2203	4300	6503	SO:0001583	missense	5176				cell proliferation|negative regulation of angiogenesis|positive regulation of neurogenesis|regulation of proteolysis	extracellular space|melanosome	serine-type endopeptidase inhibitor activity	g.chr17:1675256T>G	M76979	CCDS11012.1	17p13.3	2014-02-18	2005-08-18		ENSG00000132386	ENSG00000132386		"""Serine (or cysteine) peptidase inhibitors"""	8824	protein-coding gene	gene with protein product	"""pigment epithelium-derived factor"", ""proliferation-inducing protein 35"""	172860	"""serine (or cysteine) proteinase inhibitor, clade F (alpha-2 antiplasmin, pigment epithelium derived factor), member 1"""	PEDF		8434014, 24172014	Standard	NM_002615		Approved	EPC-1, PIG35	uc002ftl.3	P36955	OTTHUMG00000090571	ENST00000254722.4:c.530T>G	17.37:g.1675256T>G	ENSP00000254722:p.Leu177Arg						p.L177R	NM_002615.5	NP_002606.3	P36955	PEDF_HUMAN			5	693	+			177					F1T092|Q13236|Q2TU83|Q96CT1|Q96R01|Q9BWA4	Missense_Mutation	SNP	ENST00000254722.4	37	c.530T>G	CCDS11012.1	.	.	.	.	.	.	.	.	.	.	T	15.15	2.747907	0.49257	.	.	ENSG00000132386	ENST00000254722	D	0.82433	-1.61	5.79	4.71	0.59529	Serpin domain (3);	0.181464	0.49305	D	0.000148	D	0.87589	0.6215	M	0.66297	2.02	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.84513	0.0623	10	0.08179	T	0.78	.	12.4497	0.55671	0.1257:0.0:0.0:0.8743	.	177	P36955	PEDF_HUMAN	R	177	ENSP00000254722:L177R	ENSP00000254722:L177R	L	+	2	0	SERPINF1	1622006	1.000000	0.71417	0.991000	0.47740	0.014000	0.08584	2.956000	0.49129	1.018000	0.39521	-0.378000	0.06908	CTG		0.542	SERPINF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207109.4	NM_002615		8	26	0	0	0	1	0	8	26				
NBPF1	55672	broad.mit.edu	37	1	16918653	16918653	+	Splice_Site	SNP	C	C	T			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr1:16918653C>T	ENST00000430580.2	-	6	853		c.e6+1			NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN	neuroblastoma breakpoint family, member 1							cytoplasm (GO:0005737)									UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)		TCTTAACTTACTGTTGTGAAA	0.418																																						ENST00000430580.2																			0											c.e6+1		neuroblastoma breakpoint family, member 1																																				SO:0001630	splice_region_variant	55672					cytoplasm		g.chr1:16918653C>T	AB051480		1p36.13	2013-01-30			ENSG00000219481	ENSG00000219481		"""neuroblastoma breakpoint family"""	26088	protein-coding gene	gene with protein product		610501				11214970, 16079250	Standard	NM_017940		Approved	FLJ20719, KIAA1693	uc001ayw.4	Q3BBV0	OTTHUMG00000002487	ENST00000430580.2:c.34+1G>A	1.37:g.16918653C>T								NM_017940.3	NP_060410.2	Q3BBV0	NBPF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00459)|BRCA - Breast invasive adenocarcinoma(304;7.52e-06)|COAD - Colon adenocarcinoma(227;1.05e-05)|Kidney(64;0.00016)|KIRC - Kidney renal clear cell carcinoma(64;0.00258)|STAD - Stomach adenocarcinoma(196;0.00644)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.179)	6	853	-								Q8N4E8|Q9C0H0	Splice_Site	SNP	ENST00000430580.2	37																																																																																						0.418	NBPF1-005	NOVEL	upstream_uORF|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000106436.3	NM_017940	Intron	3	20	0	0	0	1	0	3	20				
CYP4A11	1579	broad.mit.edu	37	1	47407091	47407091	+	Silent	SNP	C	C	G			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr1:47407091C>G	ENST00000310638.4	-	1	46	c.15G>C	c.(13-15)gtG>gtC	p.V5V	CYP4A11_ENST00000457840.2_5'UTR|CYP4A11_ENST00000371905.1_Silent_p.V5V|CYP4A11_ENST00000462347.1_Silent_p.V5V|CYP4A11_ENST00000371904.4_Silent_p.V5V	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN	cytochrome P450, family 4, subfamily A, polypeptide 11	5				V -> A (in Ref. 8; AA sequence). {ECO:0000305}.	arachidonic acid metabolic process (GO:0019369)|cellular lipid metabolic process (GO:0044255)|epoxygenase P450 pathway (GO:0019373)|fatty acid metabolic process (GO:0006631)|leukotriene B4 catabolic process (GO:0036101)|leukotriene metabolic process (GO:0006691)|long-chain fatty acid metabolic process (GO:0001676)|omega-hydroxylase P450 pathway (GO:0097267)|oxidation-reduction process (GO:0055114)|positive regulation of icosanoid secretion (GO:0032305)|pressure natriuresis (GO:0003095)|renal water homeostasis (GO:0003091)|small molecule metabolic process (GO:0044281)|sodium ion homeostasis (GO:0055078)|xenobiotic metabolic process (GO:0006805)	apical plasma membrane (GO:0016324)|cytoplasm (GO:0005737)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|intracellular membrane-bounded organelle (GO:0043231)	alkane 1-monooxygenase activity (GO:0018685)|arachidonic acid epoxygenase activity (GO:0008392)|arachidonic acid omega-hydroxylase activity (GO:0052869)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|leukotriene-B4 20-monooxygenase activity (GO:0050051)			endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36					Cisplatin(DB00515)|Clofibrate(DB00636)|Dexamethasone(DB01234)|Estrone(DB00655)|Ethanol(DB00898)|Lansoprazole(DB00448)|Pegvisomant(DB00082)|Pentamidine(DB00738)|Phenobarbital(DB01174)|Rifampicin(DB01045)|Tretinoin(DB00755)	TGGGGCTCAGCACAGAGACAC	0.587																																						ENST00000310638.4																			0				endometrium(2)|kidney(5)|large_intestine(6)|lung(6)|ovary(5)|prostate(3)|skin(6)|soft_tissue(1)|upper_aerodigestive_tract(2)	36						c.(13-15)gtG>gtC		cytochrome P450, family 4, subfamily A, polypeptide 11	NADH(DB00157)						83.0	83.0	83.0					1																	47407091		2203	4300	6503	SO:0001819	synonymous_variant	1579				long-chain fatty acid metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|microsome	alkane 1-monooxygenase activity|electron carrier activity|heme binding|oxygen binding	g.chr1:47407091C>G	L04751	CCDS543.1	1p33	2008-02-05	2003-01-14		ENSG00000187048	ENSG00000187048		"""Cytochrome P450s"""	2642	protein-coding gene	gene with protein product		601310	"""cytochrome P450, subfamily IVA, polypeptide 11"""	CYP4A2		7679927	Standard	NM_000778		Approved	CYP4AII	uc001cqp.4	Q02928	OTTHUMG00000008020	ENST00000310638.4:c.15G>C	1.37:g.47407091C>G						CYP4A11_ENST00000371904.4_Silent_p.V5V|CYP4A11_ENST00000457840.2_5'UTR|CYP4A11_ENST00000371905.1_Silent_p.V5V|CYP4A11_ENST00000475477.1_5'UTR	p.V5V	NM_000778.3	NP_000769.2	Q02928	CP4AB_HUMAN			1	46	-			5	V -> A (in Ref. 8; AA sequence).				Q06766|Q16865|Q16866|Q5VSP8|Q86SU6|Q8IWY5	Silent	SNP	ENST00000310638.4	37	c.15G>C	CCDS543.1																																																																																				0.587	CYP4A11-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000022022.1	NM_000778		5	65	0	0	0	1	0	5	65				
AGPAT3	56894	broad.mit.edu	37	21	45401061	45401061	+	Silent	SNP	G	G	A			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr21:45401061G>A	ENST00000398063.2	+	8	1527	c.1035G>A	c.(1033-1035)gtG>gtA	p.V345V	AGPAT3_ENST00000398058.1_Silent_p.V345V|AGPAT3_ENST00000291572.8_Silent_p.V345V|AGPAT3_ENST00000479117.1_3'UTR|AGPAT3_ENST00000546158.1_Silent_p.V345V|AGPAT3_ENST00000398061.1_Silent_p.V345V|AGPAT3_ENST00000327505.2_Silent_p.V345V	NM_001037553.1	NP_001032642.1	Q9NRZ7	PLCC_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 3	345					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid biosynthetic process (GO:0008654)|phospholipid metabolic process (GO:0006644)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11				STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)		TGGGGTTTGTGGGAGCAGGTA	0.562																																					Pancreas(60;623 1650 5574 52796)	ENST00000398063.2																			0				large_intestine(4)|lung(5)|ovary(1)|prostate(1)	11						c.(1033-1035)gtG>gtA		1-acylglycerol-3-phosphate O-acyltransferase 3							127.0	108.0	114.0					21																	45401061		2203	4300	6503	SO:0001819	synonymous_variant	56894				phospholipid biosynthetic process	endoplasmic reticulum membrane|integral to membrane|plasma membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	g.chr21:45401061G>A	AF156774	CCDS13703.1	21q22.3	2013-02-05			ENSG00000160216	ENSG00000160216	2.3.1.51	"""1-acylglycerol-3-phosphate O-acyltransferases"""	326	protein-coding gene	gene with protein product		614794					Standard	XM_005261159		Approved	LPAAT-gamma	uc002zdw.3	Q9NRZ7	OTTHUMG00000086892	ENST00000398063.2:c.1035G>A	21.37:g.45401061G>A						AGPAT3_ENST00000291572.8_Silent_p.V345V|AGPAT3_ENST00000479117.1_3'UTR|AGPAT3_ENST00000398058.1_Silent_p.V345V|AGPAT3_ENST00000546158.1_Silent_p.V345V|AGPAT3_ENST00000398061.1_Silent_p.V345V|AGPAT3_ENST00000327505.2_Silent_p.V345V	p.V345V	NM_001037553.1	NP_001032642.1	Q9NRZ7	PLCC_HUMAN		STAD - Stomach adenocarcinoma(101;0.18)|Colorectal(79;0.24)	8	1527	+			345					D3DSL2|Q3ZCU2|Q6UWP6|Q6ZUC6|Q8N3Q7|Q9NRZ6	Silent	SNP	ENST00000398063.2	37	c.1035G>A	CCDS13703.1																																																																																				0.562	AGPAT3-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195722.1	NM_020132		26	36	0	0	0	1	0	26	36				
NPHP3	27031	broad.mit.edu	37	3	132407600	132407600	+	Missense_Mutation	SNP	G	G	T			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr3:132407600G>T	ENST00000337331.5	-	21	3105	c.3019C>A	c.(3019-3021)Ctg>Atg	p.L1007M	NPHP3_ENST00000326682.8_3'UTR	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN	nephronophthisis 3 (adolescent)	1007					atrial septum development (GO:0003283)|cilium morphogenesis (GO:0060271)|convergent extension involved in gastrulation (GO:0060027)|determination of intestine left/right asymmetry (GO:0071908)|determination of left/right symmetry (GO:0007368)|determination of liver left/right asymmetry (GO:0071910)|determination of pancreatic left/right asymmetry (GO:0035469)|determination of stomach left/right asymmetry (GO:0071909)|epithelial cilium movement involved in determination of left/right asymmetry (GO:0060287)|establishment or maintenance of cell polarity (GO:0007163)|extracellular matrix organization (GO:0030198)|heart looping (GO:0001947)|kidney development (GO:0001822)|kidney morphogenesis (GO:0060993)|lipid metabolic process (GO:0006629)|lung development (GO:0030324)|maintenance of organ identity (GO:0048496)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|photoreceptor cell maintenance (GO:0045494)|regulation of cAMP metabolic process (GO:0030814)|regulation of planar cell polarity pathway involved in neural tube closure (GO:2000167)|regulation of Wnt signaling pathway, planar cell polarity pathway (GO:2000095)|ureter development (GO:0072189)|Wnt signaling pathway (GO:0016055)	cilium (GO:0005929)|primary cilium (GO:0072372)				NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						TGTTTATACAGTTGTTCTGCA	0.453																																						ENST00000337331.5																			0				NS(1)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(5)|lung(15)|ovary(2)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	42						c.(3019-3021)Ctg>Atg		nephronophthisis 3 (adolescent)							140.0	136.0	138.0					3																	132407600		2203	4300	6503	SO:0001583	missense	27031				maintenance of organ identity|negative regulation of canonical Wnt receptor signaling pathway|photoreceptor cell maintenance|regulation of Wnt receptor signaling pathway, planar cell polarity pathway|Wnt receptor signaling pathway	cilium	protein binding	g.chr3:132407600G>T	AB056657	CCDS3078.1	3q22	2014-07-18			ENSG00000113971	ENSG00000113971		"""Tetratricopeptide (TTC) repeat domain containing"""	7907	protein-coding gene	gene with protein product	"""nephrocystin-3"", ""Meckel syndrome, type 7"", ""cilia and flagella associated protein 31"""	608002				12872122, 15381417	Standard	NM_153240		Approved	NPH3, KIAA2000, FLJ30691, FLJ36696, MKS7, SLSN3, CFAP31	uc003epe.2	Q7Z494	OTTHUMG00000159713	ENST00000337331.5:c.3019C>A	3.37:g.132407600G>T	ENSP00000338766:p.Leu1007Met					NPHP3_ENST00000326682.8_3'UTR	p.L1007M	NM_153240.4	NP_694972.3	Q7Z494	NPHP3_HUMAN			21	3105	-			1007					Q5JPE3|Q5JPE6|Q68D99|Q6NVH3|Q7Z492|Q7Z493|Q8N9R2|Q8NCM5|Q96N70|Q96NK2	Missense_Mutation	SNP	ENST00000337331.5	37	c.3019C>A	CCDS3078.1	.	.	.	.	.	.	.	.	.	.	G	14.25	2.480723	0.44044	.	.	ENSG00000113971	ENST00000393144;ENST00000393156;ENST00000337331	D	0.95001	-3.58	5.57	1.81	0.25067	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	D	0.95433	0.8517	L	0.60957	1.885	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.93510	0.6852	10	0.51188	T	0.08	-11.9624	9.5964	0.39576	0.3437:0.0:0.6563:0.0	.	1007	Q7Z494	NPHP3_HUMAN	M	287;69;1007	ENSP00000338766:L1007M	ENSP00000338766:L1007M	L	-	1	2	NPHP3	133890290	0.974000	0.33945	0.464000	0.27143	0.547000	0.35210	1.707000	0.37888	0.321000	0.23259	0.491000	0.48974	CTG		0.453	NPHP3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357020.2	NM_153240		4	91	1	0	0.00909568	1	0.00924479	4	91				
ARHGEF12	23365	broad.mit.edu	37	11	120349003	120349003	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr11:120349003C>T	ENST00000397843.2	+	37	3837	c.3671C>T	c.(3670-3672)aCa>aTa	p.T1224I	ARHGEF12_ENST00000532993.1_Missense_Mutation_p.T1121I|ARHGEF12_ENST00000356641.3_Missense_Mutation_p.T1205I	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN	Rho guanine nucleotide exchange factor (GEF) 12	1224					apoptotic signaling pathway (GO:0097190)|axon guidance (GO:0007411)|G-protein coupled receptor signaling pathway (GO:0007186)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	G-protein coupled receptor binding (GO:0001664)|GTPase activator activity (GO:0005096)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)		ACAGATGGGACACTAAAGGAA	0.443			T	MLL	AML																																	ENST00000397843.2				Dom	yes		11	11q23.3	23365	T	RHO guanine nucleotide exchange factor (GEF) 12 (LARG)			L	MLL		AML		0				NS(1)|breast(5)|endometrium(6)|kidney(5)|large_intestine(13)|lung(23)|ovary(4)|pancreas(1)|prostate(1)|skin(2)	61						c.(3670-3672)aCa>aTa		Rho guanine nucleotide exchange factor (GEF) 12							99.0	92.0	94.0					11																	120349003		1919	4142	6061	SO:0001583	missense	23365				apoptosis|axon guidance|G-protein coupled receptor protein signaling pathway|induction of apoptosis by extracellular signals|nerve growth factor receptor signaling pathway|regulation of Rho protein signal transduction|small GTPase mediated signal transduction	cytosol|membrane	G-protein-coupled receptor binding|GTPase activator activity|Rho guanyl-nucleotide exchange factor activity	g.chr11:120349003C>T	AF180681	CCDS41727.1, CCDS55794.1	11q23.3	2011-11-16			ENSG00000196914	ENSG00000196914		"""Rho guanine nucleotide exchange factors"""	14193	protein-coding gene	gene with protein product		604763				10681437, 9205841	Standard	NM_001198665		Approved	KIAA0382, LARG	uc001pxl.2	Q9NZN5	OTTHUMG00000166143	ENST00000397843.2:c.3671C>T	11.37:g.120349003C>T	ENSP00000380942:p.Thr1224Ile					ARHGEF12_ENST00000532993.1_Missense_Mutation_p.T1121I|ARHGEF12_ENST00000356641.3_Missense_Mutation_p.T1205I	p.T1224I	NM_015313.2	NP_056128.1	Q9NZN5	ARHGC_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(223;0.231)	37	3837	+		Breast(109;0.000813)|Medulloblastoma(222;0.0425)|Hepatocellular(160;0.0831)|all_hematologic(192;0.107)|all_neural(223;0.112)	1224					O15086|Q6P526	Missense_Mutation	SNP	ENST00000397843.2	37	c.3671C>T	CCDS41727.1	.	.	.	.	.	.	.	.	.	.	C	14.02	2.412045	0.42817	.	.	ENSG00000196914	ENST00000397843;ENST00000356641;ENST00000532993	T;T;T	0.66638	-0.12;-0.22;-0.11	5.48	5.48	0.80851	.	0.267525	0.26578	N	0.023595	T	0.51873	0.1700	N	0.14661	0.345	0.09310	N	1	B;B	0.22983	0.078;0.047	B;B	0.24394	0.053;0.024	T	0.41161	-0.9524	10	0.32370	T	0.25	-2.2724	16.866	0.86029	0.0:1.0:0.0:0.0	.	1205;1224	Q9NZN5-2;Q9NZN5	.;ARHGC_HUMAN	I	1224;1205;1121	ENSP00000380942:T1224I;ENSP00000349056:T1205I;ENSP00000432984:T1121I	ENSP00000349056:T1205I	T	+	2	0	ARHGEF12	119854213	0.006000	0.16342	0.178000	0.23040	0.918000	0.54935	1.303000	0.33470	2.722000	0.93159	0.655000	0.94253	ACA		0.443	ARHGEF12-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388052.1	NM_015313		10	37	0	0	0	1	0	10	37				
PNPLA8	50640	broad.mit.edu	37	7	108143061	108143061	+	Missense_Mutation	SNP	C	C	A	rs376735749		TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr7:108143061C>A	ENST00000422087.1	-	6	1638	c.1232G>T	c.(1231-1233)cGa>cTa	p.R411L	PNPLA8_ENST00000426128.2_Missense_Mutation_p.R411L|PNPLA8_ENST00000453144.1_Missense_Mutation_p.R311L|PNPLA8_ENST00000388728.5_Missense_Mutation_p.R411L|PNPLA8_ENST00000483879.1_5'UTR|PNPLA8_ENST00000436062.1_Missense_Mutation_p.R411L|PNPLA8_ENST00000257694.8_Missense_Mutation_p.R411L	NM_015723.3	NP_056538.1	Q9NP80	PLPL8_HUMAN	patatin-like phospholipase domain containing 8	411					arachidonic acid metabolic process (GO:0019369)|arachidonic acid secretion (GO:0050482)|cell death (GO:0008219)|fatty acid metabolic process (GO:0006631)|glycerophospholipid biosynthetic process (GO:0046474)|linoleic acid metabolic process (GO:0043651)|phosphatidylcholine acyl-chain remodeling (GO:0036151)|phosphatidylcholine catabolic process (GO:0034638)|phosphatidylethanolamine acyl-chain remodeling (GO:0036152)|phosphatidylethanolamine catabolic process (GO:0046338)|phospholipid metabolic process (GO:0006644)|prostaglandin biosynthetic process (GO:0001516)|small molecule metabolic process (GO:0044281)	endoplasmic reticulum membrane (GO:0005789)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|membrane (GO:0016020)|peroxisomal membrane (GO:0005778)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|calcium-independent phospholipase A2 activity (GO:0047499)|lysophospholipase activity (GO:0004622)			breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						TTGTCTCAGTCGTAATAAATA	0.333																																						ENST00000426128.2																			0				breast(5)|endometrium(1)|kidney(3)|large_intestine(5)|lung(12)|upper_aerodigestive_tract(3)	29						c.(1231-1233)cGa>cTa		patatin-like phospholipase domain containing 8							69.0	72.0	71.0					7																	108143061		2203	4300	6503	SO:0001583	missense	50640				fatty acid metabolic process|lipid catabolic process	endoplasmic reticulum membrane|Golgi membrane|integral to membrane|membrane fraction|perinuclear region of cytoplasm|peroxisomal membrane	ATP binding|calcium-independent phospholipase A2 activity|lysophospholipase activity	g.chr7:108143061C>A	AF217519	CCDS34733.1, CCDS59075.1, CCDS59508.1	7q31	2012-07-31			ENSG00000135241	ENSG00000135241		"""Patatin-like phospholipase domain containing"""	28900	protein-coding gene	gene with protein product		612123				10744668, 10833412, 16799181, 19029121	Standard	NM_015723		Approved	IPLA2G, IPLA2-2, iPLA2gamma	uc003vfj.2	Q9NP80	OTTHUMG00000154870	ENST00000422087.1:c.1232G>T	7.37:g.108143061C>A	ENSP00000410804:p.Arg411Leu					PNPLA8_ENST00000436062.1_Missense_Mutation_p.R411L|PNPLA8_ENST00000453144.1_Missense_Mutation_p.R311L|PNPLA8_ENST00000422087.1_Missense_Mutation_p.R411L|PNPLA8_ENST00000483879.1_5'UTR|PNPLA8_ENST00000257694.8_Missense_Mutation_p.R411L|PNPLA8_ENST00000388728.5_Missense_Mutation_p.R411L	p.R411L	NM_001256009.1	NP_001242938.1	Q9NP80	PLPL8_HUMAN			4	1357	-			411					A4D0S1|C9JZI4|O95035|Q8N3I3|Q9H7T5|Q9NR17|Q9NUN2|Q9NZ79	Missense_Mutation	SNP	ENST00000422087.1	37	c.1232G>T	CCDS34733.1	.	.	.	.	.	.	.	.	.	.	C	35	5.468355	0.96274	.	.	ENSG00000135241	ENST00000426128;ENST00000257694;ENST00000388728;ENST00000422087;ENST00000453144;ENST00000436062;ENST00000453085	T;T;T;T;T;T;T	0.18016	2.24;2.24;2.24;2.24;2.24;2.24;2.24	6.08	6.08	0.98989	.	0.000000	0.85682	D	0.000000	T	0.39835	0.1093	M	0.76002	2.32	0.80722	D	1	D	0.55172	0.97	P	0.54664	0.758	T	0.08146	-1.0736	10	0.72032	D	0.01	.	20.6721	0.99693	0.0:1.0:0.0:0.0	.	411	Q9NP80	PLPL8_HUMAN	L	411;411;411;411;311;411;311	ENSP00000394988:R411L;ENSP00000257694:R411L;ENSP00000373380:R411L;ENSP00000410804:R411L;ENSP00000387789:R311L;ENSP00000406779:R411L;ENSP00000402274:R311L	ENSP00000257694:R411L	R	-	2	0	PNPLA8	107930297	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.054000	0.71096	2.894000	0.99253	0.591000	0.81541	CGA		0.333	PNPLA8-002	NOVEL	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000337475.1	NM_015723		15	32	1	0	0.00244969	1	0.00261864	15	32				
MARCH7	64844	broad.mit.edu	37	2	160604779	160604779	+	Silent	SNP	C	C	T			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr2:160604779C>T	ENST00000259050.4	+	5	1100	c.978C>T	c.(976-978)tcC>tcT	p.S326S	MARCH7_ENST00000539065.1_Silent_p.S270S|MARCH7_ENST00000409591.1_Silent_p.S288S|MARCH7_ENST00000409175.1_Silent_p.S326S	NM_001282805.1|NM_001282807.1|NM_022826.2	NP_001269734.1|NP_001269736.1|NP_073737.1	Q9H992	MARH7_HUMAN	membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase	326	Ser-rich.				protein ubiquitination (GO:0016567)		ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						CTTCACAGTCCCGTAGTAATG	0.403																																						ENST00000259050.3																			0				breast(1)|endometrium(2)|kidney(3)|large_intestine(5)|lung(3)|prostate(1)|skin(1)|stomach(2)	18						c.(976-978)tcC>tcT		membrane-associated ring finger (C3HC4) 7, E3 ubiquitin protein ligase							53.0	56.0	55.0					2																	160604779		2202	4300	6502	SO:0001819	synonymous_variant	64844						ligase activity|zinc ion binding	g.chr2:160604779C>T	AK022973	CCDS2210.1, CCDS63038.1, CCDS63039.1	2q24.2	2013-01-09	2012-02-23	2005-01-27	ENSG00000136536	ENSG00000136536		"""MARCH membrane-associated ring fingers"", ""RING-type (C3HC4) zinc fingers"""	17393	protein-coding gene	gene with protein product		613334	"""axotrophin"", ""membrane-associated ring finger (C3HC4) 7"""	AXOT		14722266	Standard	XM_005246773		Approved	MARCH-VII, RNF177	uc002uax.3	Q9H992	OTTHUMG00000132029	ENST00000259050.4:c.978C>T	2.37:g.160604779C>T						MARCH7_ENST00000539065.1_Silent_p.S270S|MARCH7_ENST00000409175.1_Silent_p.S326S|MARCH7_ENST00000409591.1_Silent_p.S288S	p.S326S	NM_022826.2	NP_073737.1	Q9H992	MARH7_HUMAN			5	1100	+			326			Ser-rich.		A8K9X1|B7Z7P5|D3DPB0|Q53GQ1|Q9BTR9	Silent	SNP	ENST00000259050.4	37	c.978C>T	CCDS2210.1																																																																																				0.403	MARCH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255040.3	NM_022826		4	53	0	0	0	1	0	4	53				
METTL21B	25895	broad.mit.edu	37	12	58163425	58163425	+	5'Flank	SNP	A	A	C			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr12:58163425A>C	ENST00000300209.8	+	0	0				METTL21B_ENST00000551420.1_5'Flank|METTL1_ENST00000257848.7_Missense_Mutation_p.F104C|CYP27B1_ENST00000228606.4_5'Flank|METTL21B_ENST00000548256.1_5'Flank|METTL1_ENST00000548681.1_5'Flank|METTL1_ENST00000324871.7_Missense_Mutation_p.F166V	NM_015433.2	NP_056248.2	Q96AZ1	MT21B_HUMAN	methyltransferase like 21B							cytoplasm (GO:0005737)|intracellular (GO:0005622)	methyltransferase activity (GO:0008168)			endometrium(1)|lung(1)	2						GTCCGCTTGAAATGTGGGTCG	0.547																																						ENST00000324871.7																			0				large_intestine(1)|lung(2)|upper_aerodigestive_tract(1)	4						c.(496-498)Ttc>Gtc		methyltransferase like 1							168.0	153.0	158.0					12																	58163425		2203	4300	6503	SO:0001631	upstream_gene_variant	4234					cytoplasm|nucleus	protein binding|tRNA (guanine-N7-)-methyltransferase activity|tRNA binding	g.chr12:58163425A>C	AL050100, AF455816	CCDS8957.1, CCDS31848.1	12q14.1	2011-03-03	2011-03-03	2011-03-03	ENSG00000123427	ENSG00000123427			24936	protein-coding gene	gene with protein product		615258	"""family with sequence similarity 119, member B"""	FAM119B		12477932	Standard	NM_015433		Approved	DKFZP586D0919	uc001sqg.3	Q96AZ1	OTTHUMG00000170459		12.37:g.58163425A>C	Exception_encountered					METTL1_ENST00000257848.7_Missense_Mutation_p.F104C	p.F166V	NM_005371.5	NP_005362.3	Q9UBP6	TRMB_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.211)		4	1205	-	all_cancers(7;6.73e-81)|Lung NSC(6;1.07e-25)|all_lung(6;8.25e-24)|all_epithelial(6;4.6e-17)|Glioma(12;6.95e-05)|all_neural(12;0.00016)|Melanoma(17;0.122)		166					Q9H749|Q9Y3W2	Missense_Mutation	SNP	ENST00000300209.8	37	c.496T>G	CCDS8957.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	26.0|26.0	4.695902|4.695902	0.88830|0.88830	.|.	.|.	ENSG00000037897|ENSG00000037897	ENST00000257848;ENST00000547653|ENST00000324871	.|T	.|0.42513	.|0.97	5.71|5.71	5.71|5.71	0.89125|0.89125	.|.	0.051811|0.051811	0.85682|0.85682	D|D	0.000000|0.000000	T|T	0.76428|0.76428	0.3986|0.3986	H|H	0.97340|0.97340	3.985|3.985	0.37676|0.37676	D|D	0.923321|0.923321	D|D	0.60575|0.59357	0.988|0.985	P|D	0.56514|0.71414	0.8|0.973	D|D	0.86854|0.86854	0.2025|0.2025	9|10	0.87932|0.72032	D|D	0|0.01	-15.0823|-15.0823	14.9401|14.9401	0.70986|0.70986	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	104|166	Q53FS9|Q9UBP6	.|TRMB_HUMAN	C|V	104;5|166	.|ENSP00000314441:F166V	ENSP00000257848:F104C|ENSP00000314441:F166V	F|F	-|-	2|1	0|0	METTL1|METTL1	56449692|56449692	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.997000|0.997000	0.91878|0.91878	8.781000|8.781000	0.91805|0.91805	2.172000|2.172000	0.68678|0.68678	0.533000|0.533000	0.62120|0.62120	TTT|TTC		0.547	METTL21B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409268.1	NM_015433		21	114	0	0	0	1	0	21	114				
FRG1B	284802	broad.mit.edu	37	20	29625934	29625934	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr20:29625934C>T	ENST00000278882.3	+	5	558	c.178C>T	c.(178-180)Cat>Tat	p.H60Y	FRG1B_ENST00000358464.4_Missense_Mutation_p.H60Y|FRG1B_ENST00000439954.2_Missense_Mutation_p.H65Y			Q9BZ01	FRG1B_HUMAN	FSHD region gene 1 family, member B	60										endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						ACTTGTTGGGCATTCAGATGC	0.338																																						ENST00000278882.3																			0				endometrium(10)|kidney(21)|lung(3)|pancreas(1)|prostate(9)|urinary_tract(9)	53						c.(178-180)Cat>Tat																																						SO:0001583	missense	284802							g.chr20:29625934C>T			20q11.1	2013-03-18	2007-10-11	2007-10-11	ENSG00000149531	ENSG00000149531			15792	other	unknown			"""chromosome 20 open reading frame 80"""	C20orf80			Standard	NR_003579		Approved	bA348I14.2	uc010ztl.1	Q9BZ01	OTTHUMG00000032157	ENST00000278882.3:c.178C>T	20.37:g.29625934C>T	ENSP00000278882:p.His60Tyr					FRG1B_ENST00000439954.2_Missense_Mutation_p.H65Y|FRG1B_ENST00000358464.4_Missense_Mutation_p.H60Y	p.H60Y							5	558	+								C4AME5	Missense_Mutation	SNP	ENST00000278882.3	37	c.178C>T		.	.	.	.	.	.	.	.	.	.	c	3.585	-0.084798	0.07097	.	.	ENSG00000149531	ENST00000278882;ENST00000439954;ENST00000358464	T	0.42131	0.98	1.68	1.68	0.24146	.	0.109676	0.64402	D	0.000005	T	0.32615	0.0835	.	.	.	0.23210	N	0.998115	B	0.26363	0.147	B	0.35859	0.212	T	0.27905	-1.0060	9	0.34782	T	0.22	.	9.3557	0.38164	0.0:1.0:0.0:0.0	.	65	F5H5R5	.	Y	60;65;60	ENSP00000408863:H65Y	ENSP00000278882:H60Y	H	+	1	0	FRG1B	28239595	1.000000	0.71417	0.997000	0.53966	0.021000	0.10359	6.442000	0.73443	1.250000	0.43966	0.184000	0.17185	CAT		0.338	FRG1B-001	KNOWN	not_best_in_genome_evidence|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000078494.2	NR_003579		4	95	0	0	0	1	0	4	95				
GCSAML	148823	broad.mit.edu	37	1	247737617	247737617	+	Missense_Mutation	SNP	G	G	T			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr1:247737617G>T	ENST00000366488.4	+	5	445	c.341G>T	c.(340-342)aGg>aTg	p.R114M	RP11-978I15.10_ENST00000446347.1_RNA|GCSAML_ENST00000527541.1_Missense_Mutation_p.R82M|GCSAML_ENST00000536561.1_Missense_Mutation_p.R94M|GCSAML_ENST00000366489.1_Missense_Mutation_p.R94M|GCSAML_ENST00000463359.1_Missense_Mutation_p.R82M|RP11-978I15.10_ENST00000435333.1_RNA|GCSAML_ENST00000366491.2_Missense_Mutation_p.R94M|GCSAML_ENST00000527084.1_Missense_Mutation_p.R82M	NM_001281836.1|NM_001281837.1|NM_001281853.1|NM_145278.3	NP_001268765.1|NP_001268766.1|NP_001268782.1|NP_660321.1	Q5JQS6	GSAML_HUMAN	germinal center-associated, signaling and motility-like	114																	GCCCTTCTTAGGACTTCTGTT	0.438																																						ENST00000366491.2																			0											c.(280-282)aGg>aTg		germinal center-associated, signaling and motility-like							153.0	128.0	137.0					1																	247737617		2203	4300	6503	SO:0001583	missense	148823							g.chr1:247737617G>T	AK126682	CCDS1635.1, CCDS60470.1, CCDS73058.1	1q44	2012-08-23	2012-08-23	2012-08-23	ENSG00000169224	ENSG00000169224			29583	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 150"""	C1orf150			Standard	NM_001281834		Approved	FLJ44728	uc001idf.3	Q5JQS6	OTTHUMG00000040648	ENST00000366488.4:c.341G>T	1.37:g.247737617G>T	ENSP00000355444:p.Arg114Met					GCSAML_ENST00000366488.4_Missense_Mutation_p.R114M|GCSAML_ENST00000366489.1_Missense_Mutation_p.R94M|RP11-978I15.10_ENST00000446347.1_RNA|GCSAML_ENST00000536561.1_Missense_Mutation_p.R94M|GCSAML_ENST00000527084.1_Missense_Mutation_p.R82M|GCSAML_ENST00000527541.1_Missense_Mutation_p.R82M|RP11-978I15.10_ENST00000435333.1_RNA|GCSAML_ENST00000463359.1_Missense_Mutation_p.R82M	p.R94M							7	778	+								B2R4Y5|B3KX46|Q5JQT3	Missense_Mutation	SNP	ENST00000366488.4	37	c.281G>T	CCDS1635.1	.	.	.	.	.	.	.	.	.	.	G	13.02	2.110907	0.37242	.	.	ENSG00000169224	ENST00000527084;ENST00000527541;ENST00000366491;ENST00000366489;ENST00000463359;ENST00000366488;ENST00000536561	.	.	.	3.91	0.961	0.19638	.	0.322809	0.22380	N	0.060830	T	0.50939	0.1645	L	0.58101	1.795	0.09310	N	1	D	0.76494	0.999	D	0.63703	0.917	T	0.37641	-0.9697	9	0.72032	D	0.01	-3.8815	6.4156	0.21715	0.324:0.0:0.676:0.0	.	114	Q5JQS6	CA150_HUMAN	M	82;82;94;94;82;114;94	.	ENSP00000355444:R114M	R	+	2	0	C1orf150	245804240	0.021000	0.18746	0.030000	0.17652	0.606000	0.37113	-0.065000	0.11617	0.106000	0.17784	-0.194000	0.12790	AGG		0.438	GCSAML-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000097745.4	NM_145278		6	33	1	0	8.12818e-05	1	9.33236e-05	6	33				
SLC9A4	389015	broad.mit.edu	37	2	103120167	103120167	+	Splice_Site	SNP	G	G	A			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr2:103120167G>A	ENST00000295269.4	+	3	1437		c.e3+1			NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN	solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4						epithelial cell development (GO:0002064)|gastric acid secretion (GO:0001696)|ion transport (GO:0006811)|regulation of pH (GO:0006885)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	sodium:proton antiporter activity (GO:0015385)	p.?(1)		NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						GCATCCTGGCGTGAGTACAAA	0.433																																						ENST00000295269.4																			1	Unknown(1)	p.?(1)	kidney(1)	NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(8)|lung(16)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.e3+1		solute carrier family 9, subfamily A (NHE4, cation proton antiporter 4), member 4							102.0	100.0	100.0					2																	103120167		2203	4300	6503	SO:0001630	splice_region_variant	389015				regulation of pH	apical plasma membrane|basolateral plasma membrane|integral to membrane	sodium:hydrogen antiporter activity	g.chr2:103120167G>A		CCDS33264.1	2q12.1	2013-05-22	2012-03-22		ENSG00000180251	ENSG00000180251		"""Solute carriers"""	11077	protein-coding gene	gene with protein product		600531	"""solute carrier family 9 (sodium/hydrogen exchanger), isoform 4"", ""solute carrier family 9 (sodium/hydrogen exchanger), member 4"""			8199403	Standard	NM_001011552		Approved	NHE4	uc002tbz.4	Q6AI14	OTTHUMG00000153093	ENST00000295269.4:c.980+1G>A	2.37:g.103120167G>A								NM_001011552.3	NP_001011552.2	Q6AI14	SL9A4_HUMAN			3	1437	+								Q69YK0	Splice_Site	SNP	ENST00000295269.4	37		CCDS33264.1	.	.	.	.	.	.	.	.	.	.	G	24.2	4.510328	0.85389	.	.	ENSG00000180251	ENST00000295269	.	.	.	5.61	5.61	0.85477	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.0018	0.97417	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	SLC9A4	102486599	1.000000	0.71417	1.000000	0.80357	0.967000	0.64934	9.813000	0.99286	2.793000	0.96121	0.655000	0.94253	.		0.433	SLC9A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000329498.1	NM_001011552.3	Intron	21	78	0	0	0	1	0	21	78				
MXRA5	25878	broad.mit.edu	37	X	3239395	3239395	+	Nonsense_Mutation	SNP	G	G	T			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chrX:3239395G>T	ENST00000217939.6	-	5	4485	c.4331C>A	c.(4330-4332)tCa>tAa	p.S1444*		NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN	matrix-remodelling associated 5	1444						extracellular vesicular exosome (GO:0070062)				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157		all_lung(23;0.00031)|Lung NSC(23;0.000946)				TTTTATGCTTGAGAGAGTTGT	0.448																																						ENST00000217939.6																			0				NS(1)|biliary_tract(1)|breast(4)|central_nervous_system(3)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(32)|lung(81)|ovary(6)|prostate(3)|skin(9)|stomach(3)|urinary_tract(2)	157						c.(4330-4332)tCa>tAa		matrix-remodelling associated 5							65.0	58.0	60.0					X																	3239395		2203	4300	6503	SO:0001587	stop_gained	25878					extracellular region		g.chrX:3239395G>T	AF245505	CCDS14124.1	Xp22.33	2013-01-29			ENSG00000101825	ENSG00000101825		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	7539	protein-coding gene	gene with protein product	"""adlican"""					12101425	Standard	NM_015419		Approved	DKFZp564I1922	uc004crg.4	Q9NR99	OTTHUMG00000021083	ENST00000217939.6:c.4331C>A	X.37:g.3239395G>T	ENSP00000217939:p.Ser1444*						p.S1444*	NM_015419.3	NP_056234.2	Q9NR99	MXRA5_HUMAN			5	4485	-		all_lung(23;0.00031)|Lung NSC(23;0.000946)	1444					Q6P1M7|Q9Y3Y8	Nonsense_Mutation	SNP	ENST00000217939.6	37	c.4331C>A	CCDS14124.1	.	.	.	.	.	.	.	.	.	.	g	40	8.210194	0.98706	.	.	ENSG00000101825	ENST00000381114;ENST00000217939	.	.	.	3.0	-2.24	0.06909	.	3.368940	0.01447	U	0.015342	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.07813	T	0.8	.	0.842	0.01152	0.2546:0.3364:0.2372:0.1718	.	.	.	.	X	1444	.	ENSP00000217939:S1444X	S	-	2	0	MXRA5	3249395	0.000000	0.05858	0.000000	0.03702	0.009000	0.06853	0.229000	0.17833	-0.493000	0.06678	0.423000	0.28283	TCA		0.448	MXRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055655.2	NM_015419		4	22	1	0	1.23904e-05	1	1.47732e-05	4	22				
AKAP4	8852	broad.mit.edu	37	X	49963360	49963360	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chrX:49963360C>T	ENST00000376056.2	-	2	194	c.44G>A	c.(43-45)tGc>tAc	p.C15Y	AKAP4_ENST00000358526.2_Missense_Mutation_p.C24Y|AKAP4_ENST00000376064.3_Missense_Mutation_p.C15Y|AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376058.2_Missense_Mutation_p.C15Y					A kinase (PRKA) anchor protein 4											NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41	Ovarian(276;0.236)					ATCTACCTTGCACACACCCCT	0.428																																						ENST00000376056.2																			0				NS(2)|breast(3)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(6)|large_intestine(6)|lung(14)|ovary(1)|skin(4)	41						c.(43-45)tGc>tAc		A kinase (PRKA) anchor protein 4							114.0	86.0	96.0					X																	49963360		2203	4300	6503	SO:0001583	missense	8852				cell projection organization|single fertilization|sperm motility	cAMP-dependent protein kinase complex|cilium|cytoskeleton|microtubule-based flagellum	protein kinase A binding	g.chrX:49963360C>T	AF072756	CCDS14329.1, CCDS14330.1	Xp11.2	2009-03-12			ENSG00000147081	ENSG00000147081		"""A-kinase anchor proteins"""	374	protein-coding gene	gene with protein product	"""A-kinase anchor protein 82 kDa"", ""testis-specific gene HI"", ""protein kinase A anchoring protein 4"", ""cancer/testis antigen 99"""	300185				9822690, 9514854	Standard	NM_003886		Approved	p82, hAKAP82, AKAP82, Fsc1, HI, CT99	uc004dow.1	Q5JQC9	OTTHUMG00000021517	ENST00000376056.2:c.44G>A	X.37:g.49963360C>T	ENSP00000365224:p.Cys15Tyr					AKAP4_ENST00000481402.1_5'UTR|AKAP4_ENST00000376064.3_Missense_Mutation_p.C15Y|AKAP4_ENST00000376058.2_Missense_Mutation_p.C15Y|AKAP4_ENST00000358526.2_Missense_Mutation_p.C24Y	p.C15Y			Q5JQC9	AKAP4_HUMAN			2	194	-	Ovarian(276;0.236)		24						Missense_Mutation	SNP	ENST00000376056.2	37	c.44G>A	CCDS14330.1	.	.	.	.	.	.	.	.	.	.	C	11.85	1.762925	0.31228	.	.	ENSG00000147081	ENST00000376056;ENST00000376058;ENST00000358526;ENST00000376064;ENST00000448865;ENST00000437370	T;T;T;T;T;T	0.36520	1.25;1.25;1.25;1.25;1.25;1.25	5.17	5.17	0.71159	.	0.000000	0.56097	D	0.000024	T	0.59851	0.2224	M	0.78801	2.425	0.27136	N	0.961784	D;D	0.71674	0.995;0.998	D;D	0.80764	0.986;0.994	T	0.57579	-0.7787	9	.	.	.	-8.4532	13.1603	0.59540	0.0:1.0:0.0:0.0	.	24;15	Q5JQC9;A6ND82	AKAP4_HUMAN;.	Y	15;15;24;15;15;15	ENSP00000365224:C15Y;ENSP00000365226:C15Y;ENSP00000351327:C24Y;ENSP00000365232:C15Y;ENSP00000402403:C15Y;ENSP00000412279:C15Y	.	C	-	2	0	AKAP4	49850100	1.000000	0.71417	0.998000	0.56505	0.278000	0.26855	3.889000	0.56212	2.168000	0.68352	0.600000	0.82982	TGC		0.428	AKAP4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056552.1	NM_003886		6	8	0	0	0	1	0	6	8				
MAS1L	116511	broad.mit.edu	37	6	29454798	29454798	+	Silent	SNP	G	G	T			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr6:29454798G>T	ENST00000377127.3	-	1	940	c.882C>A	c.(880-882)acC>acA	p.T294T		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 proto-oncogene like, G protein-coupled receptor	294					G-protein coupled receptor signaling pathway (GO:0007186)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						AATAGGAGGTGGTGACAAACA	0.483																																					NSCLC(153;755 1987 3859 11251 32945)	ENST00000377127.3																			0				NS(1)|endometrium(2)|kidney(1)|large_intestine(5)|lung(7)|ovary(7)|pancreas(1)|prostate(2)|skin(2)	28						c.(880-882)acC>acA		MAS1 oncogene-like							42.0	47.0	45.0					6																	29454798		2203	4300	6503	SO:0001819	synonymous_variant	116511					cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity	g.chr6:29454798G>T	S78653	CCDS4661.1	6p22.1	2014-06-26	2014-06-26		ENSG00000204687	ENSG00000204687		"""GPCR / Class A : Orphans"""	13961	protein-coding gene	gene with protein product		607235	"""MAS1 oncogene-like"""				Standard	NM_052967		Approved	MAS-L, MRG, dJ994E9.2	uc011dlq.2	P35410	OTTHUMG00000031089	ENST00000377127.3:c.882C>A	6.37:g.29454798G>T							p.T294T	NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN			1	940	-			294					Q5SUN5	Silent	SNP	ENST00000377127.3	37	c.882C>A	CCDS4661.1																																																																																				0.483	MAS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076126.2	NM_052967		10	34	1	0	0.000978159	1	0.00108296	10	34				
KIAA1407	57577	broad.mit.edu	37	3	113723435	113723435	+	Intron	SNP	C	C	A			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr3:113723435C>A	ENST00000295878.3	-	11	2125				KIAA1407_ENST00000545063.1_Missense_Mutation_p.R507I	NM_020817.1	NP_065868.1	Q8NCU4	K1407_HUMAN	KIAA1407											endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						ACATTCTACTCTAGGAGAGAA	0.468																																						ENST00000545063.1																			0				endometrium(9)|large_intestine(7)|lung(19)|ovary(2)|pancreas(1)|prostate(1)|urinary_tract(1)	40						c.(1519-1521)aGa>aTa		KIAA1407							121.0	109.0	113.0					3																	113723435		2203	4300	6503	SO:0001627	intron_variant	57577							g.chr3:113723435C>A	AF509494	CCDS2977.1	3q13.31	2005-01-10			ENSG00000163617	ENSG00000163617			29272	protein-coding gene	gene with protein product						10718198	Standard	NM_020817		Approved		uc003eax.3	Q8NCU4	OTTHUMG00000159337	ENST00000295878.3:c.1978+48G>T	3.37:g.113723435C>A						KIAA1407_ENST00000295878.3_Intron	p.R507I			Q8NCU4	K1407_HUMAN			11	2174	-			0					B4DYL1|Q9P2E0	Missense_Mutation	SNP	ENST00000295878.3	37	c.1520G>T	CCDS2977.1	.	.	.	.	.	.	.	.	.	.	C	11.83	1.755422	0.31046	.	.	ENSG00000163617	ENST00000545063	T	0.48522	0.81	4.31	-0.771	0.11002	.	.	.	.	.	T	0.29389	0.0732	.	.	.	0.09310	N	1	P	0.43094	0.799	B	0.34242	0.178	T	0.16394	-1.0404	8	0.87932	D	0	.	4.8278	0.13425	0.0:0.4429:0.27:0.287	.	552	B4DIZ9	.	I	507	ENSP00000446381:R507I	ENSP00000446381:R507I	R	-	2	0	KIAA1407	115206125	0.002000	0.14202	0.000000	0.03702	0.004000	0.04260	0.160000	0.16462	-0.157000	0.11059	0.650000	0.86243	AGA		0.468	KIAA1407-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354724.2	NM_020817		13	32	1	0	2.27111e-07	1	2.81618e-07	13	32				
RALGDS	5900	broad.mit.edu	37	9	135976954	135976954	+	Missense_Mutation	SNP	G	G	C			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr9:135976954G>C	ENST00000372050.3	-	16	2428	c.2407C>G	c.(2407-2409)Cgc>Ggc	p.R803G	RALGDS_ENST00000372062.3_Missense_Mutation_p.R774G|RALGDS_ENST00000393160.3_Missense_Mutation_p.R748G|RALGDS_ENST00000372047.3_Missense_Mutation_p.R791G|RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000393157.3_Missense_Mutation_p.R802G|RALGDS_ENST00000542690.1_Missense_Mutation_p.R874G	NM_006266.2	NP_006257.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	803	Ras-associating. {ECO:0000255|PROSITE- ProRule:PRU00166}.				neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|small GTPase regulator activity (GO:0005083)			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		AGGCTGACGCGGATGATACAG	0.642			T	CIITA	"""PMBL, Hodgkin Lymphona, """																																Melanoma(189;762 2088 15384 21931 52515)	ENST00000393160.3				Dom	yes		9	9q34.3	5900	T	ral guanine nucleotide dissociation stimulator			L	CIITA		"""PMBL, Hodgkin Lymphona, """		0				endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10						c.(2242-2244)Cgc>Ggc		ral guanine nucleotide dissociation stimulator							98.0	101.0	100.0					9																	135976954		2203	4300	6503	SO:0001583	missense	5900				nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity	g.chr9:135976954G>C	AB037729	CCDS6959.1, CCDS43897.1, CCDS65172.1, CCDS65173.1, CCDS65174.1	9q34.3	2009-04-08			ENSG00000160271	ENSG00000160271			9842	protein-coding gene	gene with protein product		601619				7972015	Standard	NM_006266		Approved	RGF, RalGEF, RGDS	uc004ccr.3	Q12967	OTTHUMG00000020858	ENST00000372050.3:c.2407C>G	9.37:g.135976954G>C	ENSP00000361120:p.Arg803Gly					RALGDS_ENST00000372062.3_Missense_Mutation_p.R774G|RALGDS_ENST00000469972.1_5'UTR|RALGDS_ENST00000372050.3_Missense_Mutation_p.R803G|RALGDS_ENST00000372047.3_Missense_Mutation_p.R791G|RALGDS_ENST00000393157.3_Missense_Mutation_p.R802G|RALGDS_ENST00000542690.1_Missense_Mutation_p.R874G	p.R748G	NM_001042368.1	NP_001035827.1	Q12967	GNDS_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)	16	2595	-			803					B7Z753|E7ER93|E7ERZ0|Q5T7V4|Q6KH11|Q6PCE1|Q6ZSD5|Q9HAX7|Q9HAY1|Q9HCT1|Q9P2N8	Missense_Mutation	SNP	ENST00000372050.3	37	c.2242C>G	CCDS6959.1	.	.	.	.	.	.	.	.	.	.	G	19.17	3.776380	0.70107	.	.	ENSG00000160271	ENST00000372050;ENST00000372047;ENST00000393160;ENST00000393157;ENST00000542690;ENST00000372062	T;T;T;T;T;T	0.25912	1.77;1.77;1.77;1.77;1.77;1.77	5.12	4.13	0.48395	Ras-association (3);	0.000000	0.64402	D	0.000002	T	0.54287	0.1849	M	0.86028	2.79	0.58432	D	0.999995	D;D;D;D;D;D;D	0.89917	1.0;0.999;1.0;0.999;0.999;0.999;1.0	D;D;D;D;D;D;D	0.97110	0.966;0.99;0.999;0.955;0.997;0.997;1.0	T	0.61983	-0.6950	10	0.87932	D	0	.	13.3443	0.60564	0.0:0.0:0.7929:0.2071	.	874;774;791;748;802;791;803	F5H6M6;E7ER93;Q8TEK9;Q6KH11;E7ERZ0;Q6PCE1;Q12967	.;.;.;.;.;.;GNDS_HUMAN	G	803;791;748;802;874;774	ENSP00000361120:R803G;ENSP00000361117:R791G;ENSP00000376867:R748G;ENSP00000376864:R802G;ENSP00000437518:R874G;ENSP00000361132:R774G	ENSP00000361117:R791G	R	-	1	0	RALGDS	134966775	1.000000	0.71417	0.964000	0.40570	0.989000	0.77384	4.196000	0.58407	1.059000	0.40554	0.462000	0.41574	CGC		0.642	RALGDS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054837.1	NM_006266		5	90	0	0	0	1	0	5	90				
OR4K1	79544	broad.mit.edu	37	14	20404202	20404202	+	Missense_Mutation	SNP	T	T	C			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr14:20404202T>C	ENST00000285600.4	+	1	436	c.377T>C	c.(376-378)aTa>aCa	p.I126T		NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	olfactory receptor, family 4, subfamily K, member 1	126						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)		TTTATAGCCATATGTAAGCCT	0.448																																						ENST00000285600.4																			0				central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|lung(24)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	43						c.(376-378)aTa>aCa		olfactory receptor, family 4, subfamily K, member 1							135.0	129.0	131.0					14																	20404202		2203	4300	6503	SO:0001583	missense	79544				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:20404202T>C		CCDS32025.1	14q11.2	2013-09-23			ENSG00000155249	ENSG00000155249		"""GPCR / Class A : Olfactory receptors"""	14726	protein-coding gene	gene with protein product							Standard	NM_001004063		Approved		uc001vwj.2	Q8NGD4	OTTHUMG00000170633	ENST00000285600.4:c.377T>C	14.37:g.20404202T>C	ENSP00000285600:p.Ile126Thr						p.I126T	NM_001004063.2	NP_001004063.2	Q8NGD4	OR4K1_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00124)	1	436	+	all_cancers(95;0.00108)		126					B9EKV9|Q8NGD6|Q96R73	Missense_Mutation	SNP	ENST00000285600.4	37	c.377T>C	CCDS32025.1	.	.	.	.	.	.	.	.	.	.	.	17.52	3.408920	0.62399	.	.	ENSG00000155249	ENST00000285600	T	0.59224	0.28	4.94	4.94	0.65067	GPCR, rhodopsin-like superfamily (1);	0.000000	0.64402	D	0.000009	D	0.82632	0.5079	H	0.96861	3.895	0.42982	D	0.994463	D	0.76494	0.999	D	0.72982	0.979	D	0.88178	0.2869	10	0.87932	D	0	.	12.5899	0.56437	0.0:0.0:0.0:1.0	.	126	Q8NGD4	OR4K1_HUMAN	T	126	ENSP00000285600:I126T	ENSP00000285600:I126T	I	+	2	0	OR4K1	19474042	1.000000	0.71417	0.889000	0.34880	0.743000	0.42351	7.091000	0.76923	2.066000	0.61787	0.533000	0.62120	ATA		0.448	OR4K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409881.1			23	209	0	0	0	1	0	23	209				
SBF1	6305	broad.mit.edu	37	22	50903079	50903079	+	Missense_Mutation	SNP	C	C	A			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr22:50903079C>A	ENST00000390679.3	-	14	1704	c.1520G>T	c.(1519-1521)cGg>cTg	p.R507L	SBF1_ENST00000348911.6_Missense_Mutation_p.R508L|SBF1_ENST00000380817.3_Missense_Mutation_p.R507L			O95248	MTMR5_HUMAN	SET binding factor 1	507					cell death (GO:0008219)|positive regulation of Rab GTPase activity (GO:0032851)|protein dephosphorylation (GO:0006470)|spermatogenesis (GO:0007283)	integral component of membrane (GO:0016021)|nucleus (GO:0005634)	protein tyrosine/serine/threonine phosphatase activity (GO:0008138)|Rab guanyl-nucleotide exchange factor activity (GO:0017112)			breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)		CTCATCCAGCCGGGGGAAGGG	0.682																																						ENST00000380817.2																			0				breast(1)|central_nervous_system(2)|endometrium(6)|kidney(8)|large_intestine(3)|lung(18)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(1519-1521)cGg>cTg		SET binding factor 1							55.0	61.0	59.0					22																	50903079		1987	4155	6142	SO:0001583	missense	6305				protein dephosphorylation	integral to membrane|nucleus	protein tyrosine/serine/threonine phosphatase activity	g.chr22:50903079C>A	U93181	CCDS14091.1, CCDS14091.2	22q13.33	2013-01-10			ENSG00000100241	ENSG00000100241		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"", ""DENN/MADD domain containing"", ""Pleckstrin homology (PH) domain containing"""	10542	protein-coding gene	gene with protein product	"""myotubularin related 5"", ""DENN/MADD domain containing 7A"""	603560				9537414, 9736772	Standard	NM_002972		Approved	MTMR5, DENND7A	uc003blh.3	O95248	OTTHUMG00000150204	ENST00000390679.3:c.1520G>T	22.37:g.50903079C>A	ENSP00000375097:p.Arg507Leu					SBF1_ENST00000348911.6_Missense_Mutation_p.R508L|SBF1_ENST00000390679.3_Missense_Mutation_p.R507L	p.R507L	NM_002972.2	NP_002963.2	O95248	MTMR5_HUMAN		BRCA - Breast invasive adenocarcinoma(115;0.206)|LUAD - Lung adenocarcinoma(64;0.247)	14	1703	-		all_cancers(38;5.78e-13)|all_epithelial(38;1.71e-11)|all_lung(38;3.89e-05)|Breast(42;0.000523)|Lung NSC(38;0.000992)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	507					A6PVG9|O60228|Q5JXD8|Q5PPM2|Q96GR9|Q9UGB8	Missense_Mutation	SNP	ENST00000390679.3	37	c.1520G>T		.	.	.	.	.	.	.	.	.	.	C	12.00	1.805398	0.31961	.	.	ENSG00000100241	ENST00000380817;ENST00000348911;ENST00000356279;ENST00000337034;ENST00000390679	D;D;D	0.86097	-2.07;-2.07;-2.07	4.32	3.3	0.37823	.	0.363029	0.25762	N	0.028476	T	0.68933	0.3055	N	0.12182	0.205	0.26811	N	0.968993	B;B;B	0.12013	0.001;0.005;0.002	B;B;B	0.14578	0.003;0.011;0.003	T	0.56475	-0.7973	10	0.30078	T	0.28	.	7.17	0.25712	0.1682:0.7429:0.0:0.089	.	507;508;507	O95248;G5E933;O95248-4	MTMR5_HUMAN;.;.	L	507;508;518;517;507	ENSP00000370196:R507L;ENSP00000252027:R508L;ENSP00000375097:R507L	ENSP00000336522:R517L	R	-	2	0	SBF1	49249945	0.001000	0.12720	1.000000	0.80357	0.786000	0.44442	0.653000	0.24902	1.034000	0.39945	0.313000	0.20887	CGG		0.682	SBF1-201	KNOWN	basic	protein_coding	protein_coding				6	79	1	0	0.0215528	1	0.0215528	6	79				
DCAF4L2	138009	broad.mit.edu	37	8	88886083	88886083	+	Silent	SNP	G	G	A			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr8:88886083G>A	ENST00000319675.3	-	1	213	c.117C>T	c.(115-117)ttC>ttT	p.F39F		NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN	DDB1 and CUL4 associated factor 4-like 2	39								p.F39F(2)		breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						AATAGTTGGCGAATCTGAGGA	0.522																																						ENST00000319675.3																			2	Substitution - coding silent(2)	p.F39F(2)	large_intestine(2)	breast(3)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|liver(2)|lung(40)|ovary(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	83						c.(115-117)ttC>ttT		DDB1 and CUL4 associated factor 4-like 2							90.0	81.0	84.0					8																	88886083		2203	4300	6503	SO:0001819	synonymous_variant	138009							g.chr8:88886083G>A	AL833507	CCDS6245.1	8q21.3	2013-01-09	2009-07-17	2009-07-17		ENSG00000176566		"""WD repeat domain containing"""	26657	protein-coding gene	gene with protein product			"""WD repeat domain 21C"""	WDR21C		14702039	Standard	NM_152418		Approved		uc003ydz.3	Q8NA75		ENST00000319675.3:c.117C>T	8.37:g.88886083G>A							p.F39F	NM_152418.3	NP_689631.1	Q8NA75	DC4L2_HUMAN			1	213	-			39						Silent	SNP	ENST00000319675.3	37	c.117C>T	CCDS6245.1																																																																																				0.522	DCAF4L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375302.1	NM_152418		10	32	0	0	0	1	0	10	32				
PGLYRP2	114770	broad.mit.edu	37	19	15582761	15582761	+	Missense_Mutation	SNP	T	T	C			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr19:15582761T>C	ENST00000340880.4	-	3	1763	c.1283A>G	c.(1282-1284)aAc>aGc	p.N428S	PGLYRP2_ENST00000292609.4_Missense_Mutation_p.N428S	NM_052890.3	NP_443122.3	Q96PD5	PGRP2_HUMAN	peptidoglycan recognition protein 2	428					defense response to Gram-positive bacterium (GO:0050830)|detection of bacterium (GO:0016045)|growth of symbiont in host (GO:0044117)|innate immune response (GO:0045087)|negative regulation of interferon-gamma production (GO:0032689)|negative regulation of natural killer cell differentiation involved in immune response (GO:0032827)|pattern recognition receptor signaling pathway (GO:0002221)|peptide amidation (GO:0001519)|peptidoglycan catabolic process (GO:0009253)|regulation of inflammatory response (GO:0050727)	extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|membrane (GO:0016020)	N-acetylmuramoyl-L-alanine amidase activity (GO:0008745)|peptidoglycan binding (GO:0042834)|peptidoglycan receptor activity (GO:0016019)|zinc ion binding (GO:0008270)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						GGAGCGCATGTTGGCTGCGCA	0.677																																						ENST00000292609.4																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(9)|ovary(3)|prostate(2)|skin(3)|stomach(2)|urinary_tract(1)	28						c.(1282-1284)aAc>aGc		peptidoglycan recognition protein 2							60.0	50.0	54.0					19																	15582761		2203	4300	6503	SO:0001583	missense	114770				defense response to Gram-positive bacterium|detection of bacterium|innate immune response|peptide amidation|peptidoglycan catabolic process	extracellular region|intracellular|membrane	N-acetylmuramoyl-L-alanine amidase activity|peptidoglycan receptor activity|zinc ion binding	g.chr19:15582761T>C	AY358156	CCDS12330.2	19p13.12	2010-04-27			ENSG00000161031	ENSG00000161031	3.5.1.28		30013	protein-coding gene	gene with protein product	"""peptidoglycan recognition protein L precursor"", ""peptidoglycan recognition protein-like"", ""N-acetylmuramoyl-L-alanine amidase"""	608199				11461926, 12669421, 14506276	Standard	NM_052890		Approved	PGRP-L, PGLYRPL, TAGL-like, tagL, tagL-alpha, tagl-beta, PGRPL	uc002nbf.4	Q96PD5	OTTHUMG00000150690	ENST00000340880.4:c.1283A>G	19.37:g.15582761T>C	ENSP00000345968:p.Asn428Ser					PGLYRP2_ENST00000340880.4_Missense_Mutation_p.N428S	p.N428S			Q96PD5	PGRP2_HUMAN			3	1412	-			428					A8K050|A8K8C7|B2RMZ2|B7ZM33|Q68CK1|Q96N74|Q9UC60	Missense_Mutation	SNP	ENST00000340880.4	37	c.1283A>G	CCDS12330.2	.	.	.	.	.	.	.	.	.	.	T	14.60	2.584867	0.46110	.	.	ENSG00000161031	ENST00000340880;ENST00000292609	T;T	0.13778	2.56;2.56	4.62	2.51	0.30379	Peptidoglycan recognition protein family domain, metazoa/bacteria (1);N-acetylmuramoyl-L-alanine amidase domain (4);	0.284770	0.37857	N	0.001914	T	0.09113	0.0225	L	0.28115	0.83	0.25133	N	0.990552	B;B	0.25007	0.027;0.116	B;B	0.25759	0.024;0.063	T	0.25328	-1.0135	10	0.44086	T	0.13	-12.6412	7.2827	0.26320	0.0:0.1914:0.0:0.8086	.	428;428	Q96PD5-2;Q96PD5	.;PGRP2_HUMAN	S	428	ENSP00000345968:N428S;ENSP00000292609:N428S	ENSP00000292609:N428S	N	-	2	0	PGLYRP2	15443761	0.992000	0.36948	0.944000	0.38274	0.699000	0.40488	2.224000	0.42945	0.167000	0.19631	-0.379000	0.06801	AAC		0.677	PGLYRP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319626.1	NM_052890		14	29	0	0	0	1	0	14	29				
POLE	5426	broad.mit.edu	37	12	133225531	133225531	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr12:133225531C>T	ENST00000320574.5	-	32	4176	c.4133G>A	c.(4132-4134)gGt>gAt	p.G1378D	POLE_ENST00000535270.1_Missense_Mutation_p.G1351D	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN	polymerase (DNA directed), epsilon, catalytic subunit	1378					base-excision repair, gap-filling (GO:0006287)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|mitotic cell cycle (GO:0000278)|nucleotide-excision repair (GO:0006289)|nucleotide-excision repair, DNA gap filling (GO:0006297)|telomere maintenance (GO:0000723)|telomere maintenance via recombination (GO:0000722)|telomere maintenance via semi-conservative replication (GO:0032201)|transcription-coupled nucleotide-excision repair (GO:0006283)	cytoplasm (GO:0005737)|epsilon DNA polymerase complex (GO:0008622)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	4 iron, 4 sulfur cluster binding (GO:0051539)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-directed DNA polymerase activity (GO:0003887)|nucleotide binding (GO:0000166)|zinc ion binding (GO:0008270)			NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	Cladribine(DB00242)	ATACGAAGCACCCTCCTCCGC	0.607								DNA polymerases (catalytic subunits)																														ENST00000320574.5																			0				NS(2)|autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(16)|lung(41)|ovary(3)|pancreas(2)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	89						c.(4132-4134)gGt>gAt	DNA polymerases (catalytic subunits)	polymerase (DNA directed), epsilon, catalytic subunit							141.0	97.0	112.0					12																	133225531		2203	4300	6503	SO:0001583	missense	5426				base-excision repair, gap-filling|DNA synthesis involved in DNA repair|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|nucleotide-excision repair, DNA gap filling|S phase of mitotic cell cycle|telomere maintenance via recombination|telomere maintenance via semi-conservative replication|transcription-coupled nucleotide-excision repair	nucleoplasm	chromatin binding|DNA binding|DNA-directed DNA polymerase activity|nucleotide binding|protein binding|zinc ion binding	g.chr12:133225531C>T		CCDS9278.1	12q24.3	2014-09-17	2012-05-18		ENSG00000177084	ENSG00000177084		"""DNA polymerases"""	9177	protein-coding gene	gene with protein product	"""DNA polymerase epsilon catalytic subunit A"""	174762	"""polymerase (DNA directed), epsilon"""			8020968	Standard	NM_006231		Approved	POLE1	uc001uks.1	Q07864	OTTHUMG00000168045	ENST00000320574.5:c.4133G>A	12.37:g.133225531C>T	ENSP00000322570:p.Gly1378Asp					POLE_ENST00000535270.1_Missense_Mutation_p.G1351D	p.G1378D	NM_006231.2	NP_006222.2	Q07864	DPOE1_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;5.22e-08)|Epithelial(86;4.03e-07)|all cancers(50;1.18e-05)	32	4176	-	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.0416)	1378					Q13533|Q86VH9	Missense_Mutation	SNP	ENST00000320574.5	37	c.4133G>A	CCDS9278.1	.	.	.	.	.	.	.	.	.	.	C	12.21	1.868598	0.32977	.	.	ENSG00000177084	ENST00000320574;ENST00000455752;ENST00000535270;ENST00000539006	T;T;T;T	0.16743	2.32;2.32;2.32;2.51	5.55	5.55	0.83447	.	0.048502	0.85682	D	0.000000	T	0.23611	0.0571	L	0.60067	1.865	0.58432	D	0.999999	B;B	0.20368	0.044;0.002	B;B	0.23574	0.047;0.003	T	0.02070	-1.1219	10	0.39692	T	0.17	.	19.5576	0.95358	0.0:1.0:0.0:0.0	.	1351;1378	F5H1D6;Q07864	.;DPOE1_HUMAN	D	1378;1389;1351;1158	ENSP00000322570:G1378D;ENSP00000406383:G1389D;ENSP00000445753:G1351D;ENSP00000442519:G1158D	ENSP00000322570:G1378D	G	-	2	0	POLE	131735604	1.000000	0.71417	0.704000	0.30370	0.010000	0.07245	5.893000	0.69798	2.627000	0.88993	0.505000	0.49811	GGT		0.607	POLE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397689.2	NM_006231		19	74	0	0	0	1	0	19	74				
GRIA2	2891	broad.mit.edu	37	4	158255181	158255181	+	Missense_Mutation	SNP	T	T	C			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr4:158255181T>C	ENST00000264426.9	+	9	1454	c.1175T>C	c.(1174-1176)gTg>gCg	p.V392A	GRIA2_ENST00000393815.2_Missense_Mutation_p.V345A|GRIA2_ENST00000296526.7_Missense_Mutation_p.V392A|GRIA2_ENST00000507898.1_Missense_Mutation_p.V345A|GRIA2_ENST00000449365.1_Missense_Mutation_p.V345A	NM_001083619.1	NP_001077088	P42262	GRIA2_HUMAN	glutamate receptor, ionotropic, AMPA 2	392					ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endoplasmic reticulum (GO:0005783)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|synaptic vesicle (GO:0008021)	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:0004971)|extracellular-glutamate-gated ion channel activity (GO:0005234)|ionotropic glutamate receptor activity (GO:0004970)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79	all_hematologic(180;0.24)	Renal(120;0.0458)		COAD - Colon adenocarcinoma(41;0.0294)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Quinidine barbiturate(DB01346)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	TGGAGTGAAGTGGACAAAATG	0.398																																						ENST00000296526.7																			0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(16)|liver(2)|lung(32)|ovary(3)|prostate(3)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	79						c.(1174-1176)gTg>gCg		glutamate receptor, ionotropic, AMPA 2	L-Glutamic Acid(DB00142)						149.0	138.0	142.0					4																	158255181		2203	4300	6503	SO:0001583	missense	2891				synaptic transmission	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|endocytic vesicle membrane|endoplasmic reticulum membrane|postsynaptic membrane	alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity|extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr4:158255181T>C		CCDS3797.1, CCDS43274.1, CCDS43275.1	4q32.1	2012-08-29			ENSG00000120251	ENSG00000120251		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4572	protein-coding gene	gene with protein product		138247		GLUR2		1311100	Standard	NM_001083619		Approved	GluA2, GLURB	uc003ipl.4	P42262	OTTHUMG00000133836	ENST00000264426.9:c.1175T>C	4.37:g.158255181T>C	ENSP00000264426:p.Val392Ala					GRIA2_ENST00000264426.9_Missense_Mutation_p.V392A|GRIA2_ENST00000449365.1_Missense_Mutation_p.V345A|GRIA2_ENST00000393815.2_Missense_Mutation_p.V345A|GRIA2_ENST00000507898.1_Missense_Mutation_p.V345A	p.V392A	NM_000826.3	NP_000817.2	P42262	GRIA2_HUMAN		COAD - Colon adenocarcinoma(41;0.0294)	9	1500	+	all_hematologic(180;0.24)	Renal(120;0.0458)	392					A8MT92|I6L997|Q96FP6	Missense_Mutation	SNP	ENST00000264426.9	37	c.1175T>C	CCDS43274.1	.	.	.	.	.	.	.	.	.	.	T	10.32	1.318713	0.23994	.	.	ENSG00000120251	ENST00000507898;ENST00000393815;ENST00000296526;ENST00000264426;ENST00000449365	T;T;T;T;T	0.12147	2.71;2.71;2.76;2.76;2.71	5.5	5.5	0.81552	.	0.120060	0.56097	D	0.000032	T	0.08358	0.0208	N	0.11255	0.115	0.58432	D	0.999998	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.04013	0.0;0.0;0.001	T	0.30297	-0.9983	10	0.15952	T	0.53	.	15.8958	0.79333	0.0:0.0:0.0:1.0	.	392;392;345	P42262;P42262-2;A8MT92	GRIA2_HUMAN;.;.	A	345;345;392;392;345	ENSP00000426845:V345A;ENSP00000377403:V345A;ENSP00000296526:V392A;ENSP00000264426:V392A;ENSP00000389837:V345A	ENSP00000264426:V392A	V	+	2	0	GRIA2	158474631	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	4.162000	0.58177	2.209000	0.71365	0.482000	0.46254	GTG		0.398	GRIA2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000258367.2			69	34	0	0	0	1	0	69	34				
TPTE2P6	374491	broad.mit.edu	37	13	25161397	25161397	+	RNA	SNP	C	C	G	rs3874227	byFrequency	TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr13:25161397C>G	ENST00000453498.1	+	0	921				TPTE2P6_ENST00000440905.1_RNA																							TGAAACATCTCTACAACTGGA	0.343																																						ENST00000453498.1																			0																																																			374491							g.chr13:25161397C>G																													13.37:g.25161397C>G														0	921	+									RNA	SNP	ENST00000453498.1	37																																																																																						0.343	RP11-556N21.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000044193.1			4	49	0	0	0	1	0	4	49				
GPR180	160897	broad.mit.edu	37	13	95278279	95278279	+	Silent	SNP	C	C	T			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr13:95278279C>T	ENST00000376958.4	+	8	1171	c.1146C>T	c.(1144-1146)agC>agT	p.S382S		NM_180989.5	NP_851320.1	Q86V85	GP180_HUMAN	G protein-coupled receptor 180	382					G-protein coupled receptor signaling pathway (GO:0007186)|response to pheromone (GO:0019236)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(1)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	10	all_neural(89;0.0684)|Medulloblastoma(90;0.163)					TCATTTTTAGCGACTACCAAA	0.338																																						ENST00000376958.4																			0				breast(1)|kidney(1)|large_intestine(3)|lung(4)|urinary_tract(1)	10						c.(1144-1146)agC>agT		G protein-coupled receptor 180							139.0	121.0	127.0					13																	95278279		2203	4300	6503	SO:0001819	synonymous_variant	160897					integral to membrane		g.chr13:95278279C>T	AF339823	CCDS9472.1	13q32.1	2006-04-05			ENSG00000152749	ENSG00000152749			28899	protein-coding gene	gene with protein product	"""intimal thickness related receptor"""	607787				12538434	Standard	NM_180989		Approved	ITR	uc001vly.3	Q86V85	OTTHUMG00000017207	ENST00000376958.4:c.1146C>T	13.37:g.95278279C>T							p.S382S	NM_180989.5	NP_851320.1	Q86V85	GP180_HUMAN			8	1171	+	all_neural(89;0.0684)|Medulloblastoma(90;0.163)		382					A8K1D5	Silent	SNP	ENST00000376958.4	37	c.1146C>T	CCDS9472.1																																																																																				0.338	GPR180-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045465.3	NM_180989		3	43	0	0	0	1	0	3	43				
SCNN1B	6338	broad.mit.edu	37	16	23366679	23366679	+	Silent	SNP	G	G	A			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr16:23366679G>A	ENST00000343070.2	+	4	821	c.645G>A	c.(643-645)ttG>ttA	p.L215L	SCNN1B_ENST00000568923.1_Intron|SCNN1B_ENST00000568085.1_Silent_p.L215L|SCNN1B_ENST00000307331.5_Silent_p.L260L	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN	sodium channel, non-voltage-gated 1, beta subunit	215					excretion (GO:0007588)|ion transmembrane transport (GO:0034220)|multicellular organismal water homeostasis (GO:0050891)|response to stimulus (GO:0050896)|sensory perception of taste (GO:0050909)|sodium ion homeostasis (GO:0055078)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sodium channel complex (GO:0034706)	ligand-gated sodium channel activity (GO:0015280)|WW domain binding (GO:0050699)			breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32				GBM - Glioblastoma multiforme(48;0.0465)	Amiloride(DB00594)|Triamterene(DB00384)	CCCAGGCATTGACAGAGTGGT	0.577																																						ENST00000343070.2																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(5)|liver(2)|lung(8)|ovary(3)|pancreas(1)|prostate(3)|skin(1)|stomach(1)|urinary_tract(1)	32						c.(643-645)ttG>ttA		sodium channel, non-voltage-gated 1, beta subunit	Amiloride(DB00594)|Triamterene(DB00384)						143.0	104.0	117.0					16																	23366679		2197	4300	6497	SO:0001819	synonymous_variant	6338				excretion|sensory perception of taste	apical plasma membrane	ligand-gated sodium channel activity|WW domain binding	g.chr16:23366679G>A	X87159	CCDS10609.1	16p12.2-p12.1	2012-02-28	2012-02-28		ENSG00000168447	ENSG00000168447		"""Ion channels / Sodium channel, nonvoltage-gated"", ""Sodium channels"""	10600	protein-coding gene	gene with protein product	"""Liddle syndrome"""	600760	"""sodium channel, nonvoltage-gated 1, beta"", ""sodium channel, non-voltage-gated 1, beta"""				Standard	NM_000336		Approved	ENaCbeta	uc002dln.3	P51168	OTTHUMG00000131608	ENST00000343070.2:c.645G>A	16.37:g.23366679G>A						SCNN1B_ENST00000307331.5_Silent_p.L260L|SCNN1B_ENST00000568923.1_Intron|SCNN1B_ENST00000568085.1_Silent_p.L215L	p.L215L	NM_000336.2	NP_000327.2	P51168	SCNNB_HUMAN		GBM - Glioblastoma multiforme(48;0.0465)	4	821	+			215					C5HTZ2|O60891|Q96KG2|Q9UJ32|Q9UMU5	Silent	SNP	ENST00000343070.2	37	c.645G>A	CCDS10609.1																																																																																				0.577	SCNN1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254495.2			7	33	0	0	0	1	0	7	33				
KIAA1033	23325	broad.mit.edu	37	12	105540917	105540917	+	Missense_Mutation	SNP	A	A	G			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr12:105540917A>G	ENST00000332180.5	+	24	2594	c.2507A>G	c.(2506-2508)aAt>aGt	p.N836S		NM_015275.1	NP_056090.1			KIAA1033											breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						GGAATTATGAATACAACTGTA	0.353																																						ENST00000332180.5																			0				breast(3)|central_nervous_system(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(8)|lung(15)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	41						c.(2506-2508)aAt>aGt		KIAA1033							68.0	63.0	65.0					12																	105540917		1823	4075	5898	SO:0001583	missense	23325				endosome transport	WASH complex		g.chr12:105540917A>G	AB028956	CCDS41826.1, CCDS73514.1	12q24.11	2014-05-09				ENSG00000136051			29174	protein-coding gene	gene with protein product		615748				20376207, 20498093, 21498477	Standard	XM_005268742		Approved	SWIP	uc001tld.3	Q2M389		ENST00000332180.5:c.2507A>G	12.37:g.105540917A>G	ENSP00000328062:p.Asn836Ser						p.N836S	NM_015275.1	NP_056090.1	Q2M389	WAHS7_HUMAN			24	2594	+			836						Missense_Mutation	SNP	ENST00000332180.5	37	c.2507A>G	CCDS41826.1	.	.	.	.	.	.	.	.	.	.	A	14.50	2.555297	0.45487	.	.	ENSG00000136051	ENST00000332180	T	0.52526	0.66	5.68	4.52	0.55395	.	0.039324	0.85682	D	0.000000	T	0.38374	0.1038	L	0.41961	1.31	0.58432	D	0.999999	B;P	0.42556	0.241;0.783	B;B	0.39771	0.138;0.309	T	0.27088	-1.0084	10	0.62326	D	0.03	.	7.673	0.28470	0.7881:0.1419:0.0699:0.0	.	837;836	B7ZKT9;Q2M389	.;WASH7_HUMAN	S	836	ENSP00000328062:N836S	ENSP00000328062:N836S	N	+	2	0	KIAA1033	104065047	1.000000	0.71417	1.000000	0.80357	0.561000	0.35649	7.524000	0.81866	1.071000	0.40834	-0.438000	0.05819	AAT		0.353	KIAA1033-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000406138.4	NM_015275		22	85	0	0	0	1	0	22	85				
C2CD3	26005	broad.mit.edu	37	11	73760382	73760382	+	Splice_Site	SNP	C	C	A			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr11:73760382C>A	ENST00000334126.7	-	27	5587	c.5361G>T	c.(5359-5361)ctG>ctT	p.L1787L	C2CD3_ENST00000313663.7_Splice_Site_p.L1787L			Q4AC94	C2CD3_HUMAN	C2 calcium-dependent domain containing 3	1787					brain development (GO:0007420)|centriole elongation (GO:0061511)|embryonic digit morphogenesis (GO:0042733)|heart looping (GO:0001947)|in utero embryonic development (GO:0001701)|neural plate axis specification (GO:0021997)|neural tube development (GO:0021915)|nonmotile primary cilium assembly (GO:0035058)|protein localization to centrosome (GO:0071539)|protein processing (GO:0016485)|regulation of proteolysis (GO:0030162)|regulation of smoothened signaling pathway (GO:0008589)	centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|ciliary basal body (GO:0036064)				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64	Breast(11;4.16e-06)					CCATACATACCAGTGATTTTG	0.438																																						ENST00000334126.7																			0				NS(1)|breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(16)|lung(26)|ovary(4)|pancreas(2)|prostate(1)|skin(3)	64						c.e27+1		C2 calcium-dependent domain containing 3							181.0	138.0	153.0					11																	73760382		2200	4293	6493	SO:0001630	splice_region_variant	26005					centrosome		g.chr11:73760382C>A	BC035599	CCDS31636.1, CCDS66167.1	11q13.4	2014-02-12	2007-10-17		ENSG00000168014	ENSG00000168014			24564	protein-coding gene	gene with protein product		615944					Standard	XM_005273897		Approved	DKFZP586P0123	uc001ouu.2	Q4AC94	OTTHUMG00000168110	ENST00000334126.7:c.5361+1G>T	11.37:g.73760382C>A						C2CD3_ENST00000313663.7_Splice_Site_p.L1787_splice	p.L1787_splice			Q4AC94	C2CD3_HUMAN			27	5587	-	Breast(11;4.16e-06)		1787					C9JR55|E2QRD1|Q2NLE1|Q3C1U9|Q6ZU92|Q8IYM4|Q8NB87|Q8NDH7|Q9Y4M2	Splice_Site	SNP	ENST00000334126.7	37	c.5361_splice		.	.	.	.	.	.	.	.	.	.	C	4.895	0.166419	0.09339	.	.	ENSG00000168014	ENST00000538361	.	.	.	5.83	3.87	0.44632	.	.	.	.	.	T	0.48874	0.1524	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.42189	-0.9466	4	.	.	.	-1.7467	4.9681	0.14100	0.0:0.6393:0.2017:0.159	.	.	.	.	Y	21	.	.	D	-	1	0	C2CD3	73438030	1.000000	0.71417	1.000000	0.80357	0.179000	0.23085	0.725000	0.25970	2.756000	0.94617	0.655000	0.94253	GAT		0.438	C2CD3-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015531	Silent	8	23	1	0	0.00448238	1	0.0047103	8	23				
SGOL1	151648	broad.mit.edu	37	3	20215850	20215850	+	Missense_Mutation	SNP	A	A	T			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr3:20215850A>T	ENST00000263753.4	-	6	1312	c.1173T>A	c.(1171-1173)aaT>aaA	p.N391K	SGOL1_ENST00000442720.1_Intron|SGOL1_ENST00000417364.1_Intron|SGOL1_ENST00000306698.2_Intron|SGOL1_ENST00000421451.1_Missense_Mutation_p.N391K|SGOL1-AS1_ENST00000441442.1_RNA|SGOL1_ENST00000419233.2_Intron|SGOL1_ENST00000437051.1_Intron|SGOL1_ENST00000425061.1_Intron|SGOL1_ENST00000452020.1_Intron|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000429446.3_Intron|SGOL1_ENST00000412997.1_Missense_Mutation_p.N391K|SGOL1_ENST00000412868.1_Missense_Mutation_p.N391K|SGOL1_ENST00000383774.1_Intron|SGOL1_ENST00000443724.1_Intron	NM_001012410.3|NM_001199252.1	NP_001012410.1|NP_001186181.1	Q5FBB7	SGOL1_HUMAN	shugoshin-like 1 (S. pombe)	391					attachment of spindle microtubules to kinetochore (GO:0008608)|centriole-centriole cohesion (GO:0010457)|chromosome segregation (GO:0007059)|meiotic chromosome segregation (GO:0045132)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|chromosome, centromeric region (GO:0000775)|condensed chromosome, centromeric region (GO:0000779)|condensed nuclear chromosome, centromeric region (GO:0000780)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|kinetochore (GO:0000776)|mitotic cohesin complex (GO:0030892)|nucleus (GO:0005634)|spindle pole (GO:0000922)	kinase binding (GO:0019900)			kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						TGCTCGTGGGATTCTGAATGT	0.443																																						ENST00000412997.1																			0				kidney(1)|large_intestine(4)|lung(6)|skin(1)|urinary_tract(2)	14						c.(1171-1173)aaT>aaA		shugoshin-like 1 (S. pombe)							149.0	145.0	146.0					3																	20215850		2203	4300	6503	SO:0001583	missense	151648				attachment of spindle microtubules to kinetochore|cell division|centriole-centriole cohesion|meiotic chromosome segregation|mitotic prometaphase	centrosome|condensed chromosome kinetochore|cytosol|mitotic cohesin complex|spindle pole	protein binding	g.chr3:20215850A>T	BC001339	CCDS2635.1, CCDS33716.1, CCDS46771.1, CCDS46772.1, CCDS46773.1, CCDS46774.1, CCDS56243.1	3p24.3	2005-07-27			ENSG00000129810	ENSG00000129810			25088	protein-coding gene	gene with protein product		609168				12747765	Standard	NM_001199251		Approved	NY-BR-85	uc003cbu.3	Q5FBB7	OTTHUMG00000130479	ENST00000263753.4:c.1173T>A	3.37:g.20215850A>T	ENSP00000263753:p.Asn391Lys					SGOL1_ENST00000421451.1_Missense_Mutation_p.N391K|SGOL1_ENST00000425061.1_Intron|SGOL1_ENST00000263753.4_Missense_Mutation_p.N391K|SGOL1_ENST00000306698.2_Intron|SGOL1-AS1_ENST00000441442.1_RNA|SGOL1_ENST00000383774.1_Intron|SGOL1_ENST00000417364.1_Intron|SGOL1_ENST00000437051.1_Intron|SGOL1_ENST00000429446.3_Intron|SGOL1-AS1_ENST00000448208.1_RNA|SGOL1_ENST00000452020.1_Intron|SGOL1_ENST00000419233.2_Intron|SGOL1_ENST00000412868.1_Missense_Mutation_p.N391K|SGOL1_ENST00000443724.1_Intron|SGOL1_ENST00000442720.1_Intron	p.N391K	NM_001199251.1	NP_001186180.1	Q5FBB7	SGOL1_HUMAN			6	1524	-			391					Q588H5|Q5FBB4|Q5FBB5|Q5FBB6|Q5FBB8|Q8N579|Q8WVL0|Q9BVA8|Q9H275	Missense_Mutation	SNP	ENST00000263753.4	37	c.1173T>A	CCDS33716.1	.	.	.	.	.	.	.	.	.	.	A	3.287	-0.145726	0.06627	.	.	ENSG00000129810	ENST00000263753;ENST00000421451;ENST00000412997;ENST00000412868	T;T;T;T	0.28255	1.62;1.62;1.64;1.64	5.61	1.19	0.21007	.	1.432790	0.03697	N	0.248041	T	0.17746	0.0426	N	0.22421	0.69	0.09310	N	0.999999	B;B	0.30763	0.294;0.294	B;B	0.24974	0.057;0.057	T	0.12889	-1.0530	10	0.25106	T	0.35	.	1.2845	0.02048	0.5292:0.1443:0.187:0.1395	.	391;391	B5BUA4;Q5FBB7	.;SGOL1_HUMAN	K	391	ENSP00000263753:N391K;ENSP00000414129:N391K;ENSP00000410458:N391K;ENSP00000406880:N391K	ENSP00000263753:N391K	N	-	3	2	SGOL1	20190854	0.006000	0.16342	0.001000	0.08648	0.035000	0.12851	1.205000	0.32308	-0.030000	0.13804	0.459000	0.35465	AAT		0.443	SGOL1-009	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000340498.1	NM_138484		24	78	0	0	0	1	0	24	78				
RC3H1	149041	broad.mit.edu	37	1	173950089	173950089	+	Missense_Mutation	SNP	T	T	C			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr1:173950089T>C	ENST00000367696.2	-	6	1178	c.827A>G	c.(826-828)tAt>tGt	p.Y276C	RC3H1_ENST00000367694.2_Missense_Mutation_p.Y276C|RC3H1_ENST00000258349.4_Missense_Mutation_p.Y276C			Q5TC82	RC3H1_HUMAN	ring finger and CCCH-type domains 1	276					B cell homeostasis (GO:0001782)|cytoplasmic mRNA processing body assembly (GO:0033962)|lymph node development (GO:0048535)|negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of germinal center formation (GO:0002635)|negative regulation of T-helper cell differentiation (GO:0045623)|nuclear-transcribed mRNA catabolic process (GO:0000956)|positive regulation of NIK/NF-kappaB signaling (GO:1901224)|posttranscriptional regulation of gene expression (GO:0010608)|protein ubiquitination (GO:0016567)|regulation of germinal center formation (GO:0002634)|regulation of mRNA stability (GO:0043488)|regulation of T cell receptor signaling pathway (GO:0050856)|spleen development (GO:0048536)|T cell homeostasis (GO:0043029)|T cell proliferation (GO:0042098)|T follicular helper cell differentiation (GO:0061470)	cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)	mRNA 3'-UTR binding (GO:0003730)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						CAGAGCTTCATAGGTTCTAAA	0.418																																						ENST00000367696.2																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(20)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	50						c.(826-828)tAt>tGt		ring finger and CCCH-type domains 1							109.0	103.0	105.0					1																	173950089		2203	4300	6503	SO:0001583	missense	149041				cytoplasmic mRNA processing body assembly|negative regulation of activated T cell proliferation|negative regulation of B cell proliferation|negative regulation of germinal center formation|negative regulation of T-helper cell differentiation|nuclear-transcribed mRNA catabolic process|regulation of mRNA stability|regulation of T cell receptor signaling pathway	cytoplasmic mRNA processing body|stress granule	mRNA 3'-UTR binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr1:173950089T>C	AK093501	CCDS30940.1, CCDS72987.1	1q25.1	2013-01-18	2010-09-15		ENSG00000135870	ENSG00000135870		"""RING-type (C3HC4) zinc fingers"", ""Zinc fingers, CCCH-type domain containing"""	29434	protein-coding gene	gene with protein product	"""KIAA2025 protein"""	609424	"""ring finger and CCCH-type zinc finger domains 1"""			15917799	Standard	XM_005244918		Approved	KIAA2025, roquin, RP5-1198E17.5, RNF198	uc001gju.4	Q5TC82	OTTHUMG00000037275	ENST00000367696.2:c.827A>G	1.37:g.173950089T>C	ENSP00000356669:p.Tyr276Cys					RC3H1_ENST00000258349.4_Missense_Mutation_p.Y276C|RC3H1_ENST00000367694.2_Missense_Mutation_p.Y276C	p.Y276C			Q5TC82	RC3H1_HUMAN			6	1178	-			276					B3KVK1|Q5W180|Q5W181|Q8IVE6|Q8N9V1	Missense_Mutation	SNP	ENST00000367696.2	37	c.827A>G	CCDS30940.1	.	.	.	.	.	.	.	.	.	.	T	27.8	4.867022	0.91511	.	.	ENSG00000135870	ENST00000367696;ENST00000258349;ENST00000367694	D;D;D	0.95821	-3.82;-3.82;-3.82	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	D	0.97561	0.9201	M	0.76838	2.35	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.91635	0.997;0.997;0.999;0.999	D	0.98327	1.0531	10	0.87932	D	0	-11.2987	15.9528	0.79855	0.0:0.0:0.0:1.0	.	276;276;276;276	B9EGU6;B7ZMB3;Q5TC82-2;Q5TC82	.;.;.;RC3H1_HUMAN	C	276	ENSP00000356669:Y276C;ENSP00000258349:Y276C;ENSP00000356667:Y276C	ENSP00000258349:Y276C	Y	-	2	0	RC3H1	172216712	1.000000	0.71417	0.927000	0.36925	0.970000	0.65996	7.977000	0.88081	2.159000	0.67721	0.533000	0.62120	TAT		0.418	RC3H1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090733.2	NM_172071		5	33	0	0	0	1	0	5	33				
ZSCAN21	7589	broad.mit.edu	37	7	99661935	99661935	+	Missense_Mutation	SNP	G	G	T			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr7:99661935G>T	ENST00000292450.4	+	4	1281	c.1117G>T	c.(1117-1119)Ggc>Tgc	p.G373C	ZSCAN21_ENST00000543588.1_Missense_Mutation_p.K338N|ZNF3_ENST00000413658.2_3'UTR|ZSCAN21_ENST00000456748.2_Missense_Mutation_p.K338N	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	zinc finger and SCAN domain containing 21	373					positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		STAD - Stomach adenocarcinoma(171;0.129)			CAGCGGGAAAGGCAGCCTCAT	0.517																																						ENST00000292450.4																			0				breast(1)|central_nervous_system(3)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|ovary(3)|skin(1)	21						c.(1117-1119)Ggc>Tgc		zinc finger and SCAN domain containing 21							72.0	68.0	69.0					7																	99661935		2203	4300	6503	SO:0001583	missense	7589				positive regulation of transcription, DNA-dependent|viral reproduction	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr7:99661935G>T	AL136865	CCDS5681.1	7q11.1	2013-01-08	2006-10-06	2006-10-06	ENSG00000166529	ENSG00000166529		"""-"", ""Zinc fingers, C2H2-type"""	13104	protein-coding gene	gene with protein product		601261	"""zinc finger protein 38 (KOX 25)"", ""zinc finger protein 38"""	ZNF38		2288909, 2014798	Standard	NM_145914		Approved	DKFZp434L134, NY-REN-21, Zipro1	uc003uso.3	Q9Y5A6	OTTHUMG00000154583	ENST00000292450.4:c.1117G>T	7.37:g.99661935G>T	ENSP00000292450:p.Gly373Cys					ZSCAN21_ENST00000543588.1_Missense_Mutation_p.K338N|ZNF3_ENST00000413658.2_3'UTR|ZSCAN21_ENST00000456748.2_Missense_Mutation_p.K338N	p.G373C	NM_145914.2	NP_666019.1	Q9Y5A6	ZSC21_HUMAN	STAD - Stomach adenocarcinoma(171;0.129)		4	1281	+	Lung NSC(181;0.0211)|all_lung(186;0.0323)|Esophageal squamous(72;0.0439)		373					A4D2A6|D6W5T9|Q9H0B5	Missense_Mutation	SNP	ENST00000292450.4	37	c.1117G>T	CCDS5681.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	14.38|14.38	2.517461|2.517461	0.44763|0.44763	.|.	.|.	ENSG00000166529|ENSG00000166529	ENST00000292450;ENST00000379635|ENST00000543588;ENST00000456748	T|T;T	0.07800|0.02236	3.16|4.38;4.38	4.52|4.52	4.52|4.52	0.55395|0.55395	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);|.	0.358004|.	0.20632|.	N|.	0.088576|.	T|T	0.03651|0.03651	0.0104|0.0104	L|L	0.51853|0.51853	1.615|1.615	0.09310|0.09310	N|N	0.999996|0.999996	B|B	0.27229|0.21520	0.172|0.057	B|B	0.18871|0.24155	0.023|0.051	T|T	0.21008|0.21008	-1.0258|-1.0258	10|9	0.49607|0.87932	T|D	0.09|0	.|.	10.9123|10.9123	0.47116|0.47116	0.0:0.1902:0.8098:0.0|0.0:0.1902:0.8098:0.0	.|.	373|338	Q9Y5A6|G3V1M0	ZSC21_HUMAN|.	C|N	373;348|338	ENSP00000292450:G373C|ENSP00000441212:K338N;ENSP00000390960:K338N	ENSP00000292450:G373C|ENSP00000390960:K338N	G|K	+|+	1|3	0|2	ZSCAN21|ZSCAN21	99499871|99499871	0.000000|0.000000	0.05858|0.05858	0.996000|0.996000	0.52242|0.52242	0.919000|0.919000	0.55068|0.55068	-0.050000|-0.050000	0.11904|0.11904	2.524000|2.524000	0.85096|0.85096	0.655000|0.655000	0.94253|0.94253	GGC|AAG		0.517	ZSCAN21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336166.1	NM_145914		13	56	1	0	0.000151284	1	0.000170539	13	56				
CYTIP	9595	broad.mit.edu	37	2	158300465	158300465	+	Missense_Mutation	SNP	G	G	A	rs371636217		TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr2:158300465G>A	ENST00000264192.3	-	1	189	c.68C>T	c.(67-69)gCg>gTg	p.A23V	AC019201.1_ENST00000401235.1_RNA|CYTIP_ENST00000540637.1_Intron|CYTIP_ENST00000497432.1_Intron	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN	cytohesin 1 interacting protein	23					regulation of cell adhesion (GO:0030155)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|endosome (GO:0005768)|nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						AGAGCTATACGCTGGCCCAGC	0.512																																						ENST00000264192.3																			0				breast(2)|central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(6)|ovary(1)|skin(2)	15						c.(67-69)gCg>gTg		cytohesin 1 interacting protein		G	VAL/ALA	0,4406		0,0,2203	165.0	152.0	157.0		68	4.8	0.0	2		157	1,8599	1.2+/-3.3	0,1,4299	no	missense	CYTIP	NM_004288.4	64	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging	23/360	158300465	1,13005	2203	4300	6503	SO:0001583	missense	9595				regulation of cell adhesion	cell cortex|early endosome	protein binding	g.chr2:158300465G>A	L06633	CCDS2204.1	2q11.2	2011-09-08	2008-08-14	2008-08-19	ENSG00000115165	ENSG00000115165			9506	protein-coding gene	gene with protein product	"""cytohesin binding protein HE"", ""cytohesin binder and regulator"""	604448	"""pleckstrin homology, Sec7 and coiled-coil domains, binding protein"""	PSCDBP		18926288, 10343115, 11867758, 20530790, 21562043	Standard	NM_004288		Approved	B3-1, HE, CYBR, CASP, CYTHIP	uc002tzj.1	O60759	OTTHUMG00000154551	ENST00000264192.3:c.68C>T	2.37:g.158300465G>A	ENSP00000264192:p.Ala23Val					CYTIP_ENST00000540637.1_Intron|CYTIP_ENST00000497432.1_Intron	p.A23V	NM_004288.4	NP_004279.3	O60759	CYTIP_HUMAN			1	189	-			23					B4DWH9|Q15630|Q8NE32	Missense_Mutation	SNP	ENST00000264192.3	37	c.68C>T	CCDS2204.1	.	.	.	.	.	.	.	.	.	.	G	10.64	1.408227	0.25378	0.0	1.16E-4	ENSG00000115165	ENST00000264192	T	0.22134	1.97	5.72	4.84	0.62591	.	0.452988	0.21575	N	0.072345	T	0.12732	0.0309	L	0.27053	0.805	0.33753	D	0.620837	P	0.42161	0.772	B	0.30943	0.122	T	0.19321	-1.0309	10	0.33940	T	0.23	-3.0089	12.7687	0.57408	0.0:0.1645:0.8355:0.0	.	23	O60759	CYTIP_HUMAN	V	23	ENSP00000264192:A23V	ENSP00000264192:A23V	A	-	2	0	CYTIP	158008711	0.000000	0.05858	0.002000	0.10522	0.023000	0.10783	0.125000	0.15749	1.399000	0.46721	0.655000	0.94253	GCG		0.512	CYTIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254926.1	NM_004288		7	76	0	0	0	1	0	7	76				
ZFHX4	79776	broad.mit.edu	37	8	77763289	77763289	+	Missense_Mutation	SNP	T	T	G			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr8:77763289T>G	ENST00000521891.2	+	10	4580	c.4132T>G	c.(4132-4134)Tta>Gta	p.L1378V	ZFHX4_ENST00000518282.1_Missense_Mutation_p.L1352V|ZFHX4_ENST00000050961.6_Missense_Mutation_p.L1333V|ZFHX4_ENST00000455469.2_Missense_Mutation_p.L1333V	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	zinc finger homeobox 4	1333					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)|zinc ion binding (GO:0008270)			NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432			BRCA - Breast invasive adenocarcinoma(89;0.0895)			GCAAGATCAATTAAATGAACA	0.413										HNSCC(33;0.089)																												ENST00000521891.2																			0				NS(3)|breast(11)|central_nervous_system(1)|endometrium(36)|haematopoietic_and_lymphoid_tissue(2)|kidney(15)|large_intestine(66)|liver(2)|lung(245)|ovary(11)|pancreas(3)|prostate(11)|skin(7)|upper_aerodigestive_tract(13)|urinary_tract(6)	432						c.(4132-4134)Tta>Gta		zinc finger homeobox 4							103.0	96.0	98.0					8																	77763289		1869	4108	5977	SO:0001583	missense	79776					nucleus	sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:77763289T>G		CCDS47878.1, CCDS47878.2	8q21.11	2012-07-02	2007-07-16		ENSG00000091656	ENSG00000091656		"""Homeoboxes / ZF class"""	30939	protein-coding gene	gene with protein product		606940	"""zinc finger homeodomain 4"""			10873665, 11935336	Standard	NM_024721		Approved	ZFH4, FLJ20980	uc003yau.2	Q86UP3	OTTHUMG00000164557	ENST00000521891.2:c.4132T>G	8.37:g.77763289T>G	ENSP00000430497:p.Leu1378Val	HNSCC(33;0.089)				ZFHX4_ENST00000050961.6_Missense_Mutation_p.L1333V|ZFHX4_ENST00000518282.1_Missense_Mutation_p.L1352V|ZFHX4_ENST00000455469.2_Missense_Mutation_p.L1333V	p.L1378V	NM_024721.4	NP_078997.4	Q86UP3	ZFHX4_HUMAN	BRCA - Breast invasive adenocarcinoma(89;0.0895)		10	4580	+			1333					G3V138|Q18PS0|Q6ZN20	Missense_Mutation	SNP	ENST00000521891.2	37	c.4132T>G	CCDS47878.2	.	.	.	.	.	.	.	.	.	.	T	9.778	1.174524	0.21704	.	.	ENSG00000091656	ENST00000521891;ENST00000399468;ENST00000455469;ENST00000050961;ENST00000518282	T;T;T;T	0.51325	0.71;0.75;0.72;0.72	4.65	-5.25	0.02781	.	0.000000	0.34460	U	0.003946	T	0.59636	0.2208	M	0.68317	2.08	0.33218	D	0.554333	D;D;D	0.67145	0.993;0.996;0.996	D;D;D	0.80764	0.987;0.994;0.994	T	0.65825	-0.6074	10	0.31617	T	0.26	.	16.2638	0.82563	0.0:0.7346:0.0:0.2654	.	1333;1333;1378	Q86UP3;Q86UP3-4;G3V138	ZFHX4_HUMAN;.;.	V	1378;1378;1333;1333;1352	ENSP00000430497:L1378V;ENSP00000399605:L1333V;ENSP00000050961:L1333V;ENSP00000430848:L1352V	ENSP00000050961:L1333V	L	+	1	2	ZFHX4	77925844	0.124000	0.22315	0.013000	0.15412	0.740000	0.42216	0.060000	0.14342	-0.963000	0.03600	0.454000	0.30748	TTA		0.413	ZFHX4-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000379197.2	NM_024721		11	17	0	0	0	1	0	11	17				
VAMP3	9341	broad.mit.edu	37	1	7837366	7837366	+	Nonsense_Mutation	SNP	G	G	A			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr1:7837366G>A	ENST00000054666.6	+	3	334	c.219G>A	c.(217-219)tgG>tgA	p.W73*	RP3-467L1.6_ENST00000602406.1_RNA|VAMP3_ENST00000470357.1_Nonsense_Mutation_p.W45*	NM_004781.3	NP_004772.1	Q15836	VAMP3_HUMAN	vesicle-associated membrane protein 3	73	v-SNARE coiled-coil homology. {ECO:0000255|PROSITE-ProRule:PRU00290}.				calcium ion-dependent exocytosis (GO:0017156)|exocytosis (GO:0006887)|Golgi to plasma membrane protein transport (GO:0043001)|membrane fusion (GO:0061025)|positive regulation of receptor recycling (GO:0001921)|protein complex assembly (GO:0006461)|retrograde transport, endosome to Golgi (GO:0042147)|SNARE complex assembly (GO:0035493)|substrate adhesion-dependent cell spreading (GO:0034446)|vesicle docking involved in exocytosis (GO:0006904)|vesicle-mediated transport (GO:0016192)	apical plasma membrane (GO:0016324)|cell junction (GO:0030054)|cell surface (GO:0009986)|clathrin-coated vesicle (GO:0030136)|clathrin-coated vesicle membrane (GO:0030665)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|recycling endosome (GO:0055037)|secretory granule (GO:0030141)|SNARE complex (GO:0031201)|synapse (GO:0045202)				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	6	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;6.33e-69)|GBM - Glioblastoma multiforme(8;2.07e-34)|Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.38e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000805)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)		AATATTGGTGGAAGAATTGCA	0.448																																						ENST00000054666.6																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)	6						c.(217-219)tgG>tgA		vesicle-associated membrane protein 3							86.0	84.0	85.0					1																	7837366		2203	4300	6503	SO:0001587	stop_gained	9341				cellular membrane fusion|positive regulation of receptor recycling|protein complex assembly|protein transport|retrograde transport, endosome to Golgi|substrate adhesion-dependent cell spreading|vesicle docking involved in exocytosis	cell junction|clathrin-coated vesicle|integral to membrane|recycling endosome|synapse|synaptosome	protein binding	g.chr1:7837366G>A	BC003570	CCDS88.1	1p36.23	2013-02-13	2012-10-17		ENSG00000049245	ENSG00000049245		"""Vesicle-associated membrane proteins"""	12644	protein-coding gene	gene with protein product	"""cellubrevin"""	603657				9885218	Standard	NM_004781		Approved	CEB	uc001aol.3	Q15836	OTTHUMG00000001225	ENST00000054666.6:c.219G>A	1.37:g.7837366G>A	ENSP00000054666:p.Trp73*					VAMP3_ENST00000470357.1_Nonsense_Mutation_p.W45*	p.W73*	NM_004781.3	NP_004772.1	Q15836	VAMP3_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|all cancers(8;6.33e-69)|GBM - Glioblastoma multiforme(8;2.07e-34)|Colorectal(212;1.36e-07)|COAD - Colon adenocarcinoma(227;1.38e-05)|Kidney(185;4.89e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000805)|KIRC - Kidney renal clear cell carcinoma(229;0.000917)|STAD - Stomach adenocarcinoma(132;0.000985)|READ - Rectum adenocarcinoma(331;0.0642)	3	334	+	Ovarian(185;0.0634)|all_lung(157;0.178)	all_epithelial(116;9.35e-21)|all_lung(118;7.57e-07)|Lung NSC(185;4.52e-06)|Renal(390;0.000147)|Breast(487;0.00086)|Colorectal(325;0.000959)|Hepatocellular(190;0.00825)|Ovarian(437;0.0253)|Myeloproliferative disorder(586;0.0255)	73			v-SNARE coiled-coil homology.		Q9BRV4	Nonsense_Mutation	SNP	ENST00000054666.6	37	c.219G>A	CCDS88.1	.	.	.	.	.	.	.	.	.	.	G	38	6.794772	0.97845	.	.	ENSG00000049245	ENST00000054666	.	.	.	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-11.1432	20.8794	0.99867	0.0:0.0:1.0:0.0	.	.	.	.	X	73	.	ENSP00000054666:W73X	W	+	3	0	VAMP3	7759953	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.760000	0.98935	2.941000	0.99782	0.655000	0.94253	TGG		0.448	VAMP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000003625.1	NM_004781		13	21	0	0	0	1	0	13	21				
POTEC	388468	broad.mit.edu	37	18	14543139	14543139	+	Missense_Mutation	SNP	T	T	C	rs28535987	byFrequency	TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr18:14543139T>C	ENST00000358970.5	-	1	6	c.7A>G	c.(7-9)Act>Gct	p.T3A	POTEC_ENST00000389891.4_5'UTR	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN	POTE ankyrin domain family, member C	3			T -> A (in dbSNP:rs28535987). {ECO:0000269|PubMed:15489334}.							NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						CAAACCTCAGTCACCATCTGC	0.542													.|||	4398	0.878195	0.9448	0.8213	5008	,	,		17840	0.7718		0.9503	False		,,,				2504	0.864					ENST00000358970.5																			0				NS(2)|breast(1)|endometrium(9)|kidney(13)|lung(14)|prostate(3)|skin(6)|soft_tissue(1)|urinary_tract(3)	52						c.(7-9)Act>Gct		POTE ankyrin domain family, member C							101.0	85.0	90.0					18																	14543139		692	1590	2282	SO:0001583	missense	388468							g.chr18:14543139T>C	BX649118	CCDS45835.1	18p11.21	2013-01-10	2008-11-26	2008-11-26	ENSG00000183206	ENSG00000183206		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33894	protein-coding gene	gene with protein product	"""cancer/testis antigen family 104, member 6"""		"""ANKRD26-like family B, member 2"""	A26B2			Standard	NM_001137671		Approved	POTE18, POTE-18, DKFZp686J0529, CT104.6	uc010dln.3	B2RU33	OTTHUMG00000162963	ENST00000358970.5:c.7A>G	18.37:g.14543139T>C	ENSP00000351856:p.Thr3Ala					POTEC_ENST00000389891.4_5'UTR	p.T3A	NM_001137671.1	NP_001131143.1	B2RU33	POTEC_HUMAN			1	6	-			3		T -> A (in dbSNP:rs28535987).				Missense_Mutation	SNP	ENST00000358970.5	37	c.7A>G	CCDS45835.1	1700	0.7783882783882784	398	0.8089430894308943	278	0.7679558011049724	380	0.6643356643356644	644	0.8496042216358839	C	0.003	-2.407919	0.00193	.	.	ENSG00000183206	ENST00000358970;ENST00000389891	T	0.20881	2.04	0.762	-0.721	0.11189	.	.	.	.	.	T	0.00012	0.0000	N	0.00583	-1.355	0.80722	P	0.0	B	0.02656	0.0	B	0.01281	0.0	T	0.31833	-0.9929	8	0.02654	T	1	.	2.3855	0.04364	0.0:0.4017:0.3214:0.277	rs28535987;rs61530397	3	B2RU33	POTEC_HUMAN	A	3	ENSP00000351856:T3A	ENSP00000351856:T3A	T	-	1	0	POTEC	14533139	0.001000	0.12720	0.001000	0.08648	0.013000	0.08279	-1.080000	0.03407	-1.258000	0.02471	-1.042000	0.02369	ACT		0.542	POTEC-002	KNOWN	not_best_in_genome_evidence|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371179.1	XM_496269		6	89	0	0	0	1	0	6	89				
BCAR1	9564	broad.mit.edu	37	16	75263909	75263909	+	Nonsense_Mutation	SNP	C	C	A			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr16:75263909C>A	ENST00000162330.5	-	7	2239	c.2113G>T	c.(2113-2115)Gaa>Taa	p.E705*	BCAR1_ENST00000393420.6_Nonsense_Mutation_p.E723*|BCAR1_ENST00000542031.2_Nonsense_Mutation_p.E703*|BCAR1_ENST00000538440.2_Nonsense_Mutation_p.E705*|BCAR1_ENST00000535626.2_Nonsense_Mutation_p.E557*|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000420641.3_Nonsense_Mutation_p.E723*|RP11-331F4.4_ENST00000489723.1_RNA|BCAR1_ENST00000393422.2_Nonsense_Mutation_p.E723*|BCAR1_ENST00000546196.1_Nonsense_Mutation_p.E676*|BCAR1_ENST00000418647.3_Nonsense_Mutation_p.E751*	NM_001170717.1|NM_014567.3	NP_001164188.1|NP_055382.2	P56945	BCAR1_HUMAN	breast cancer anti-estrogen resistance 1	705					actin filament organization (GO:0007015)|antigen receptor-mediated signaling pathway (GO:0050851)|B cell receptor signaling pathway (GO:0050853)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cell chemotaxis (GO:0060326)|cell division (GO:0051301)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cellular response to hepatocyte growth factor stimulus (GO:0035729)|epidermal growth factor receptor signaling pathway (GO:0007173)|G-protein coupled receptor signaling pathway (GO:0007186)|hepatocyte growth factor receptor signaling pathway (GO:0048012)|insulin receptor signaling pathway (GO:0008286)|integrin-mediated signaling pathway (GO:0007229)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell migration (GO:0030335)|positive regulation of endothelial cell migration (GO:0010595)|regulation of apoptotic process (GO:0042981)|regulation of cell growth (GO:0001558)|T cell receptor signaling pathway (GO:0050852)|vascular endothelial growth factor receptor signaling pathway (GO:0048010)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)|ruffle (GO:0001726)	protein kinase binding (GO:0019901)|signal transducer activity (GO:0004871)			breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35				BRCA - Breast invasive adenocarcinoma(221;0.169)		TCCAGTCGTTCAAACTGCTTC	0.667																																						ENST00000546196.1																			0				breast(2)|central_nervous_system(5)|endometrium(1)|kidney(6)|large_intestine(1)|liver(1)|lung(13)|ovary(1)|prostate(3)|upper_aerodigestive_tract(2)	35						c.(2026-2028)Gaa>Taa		breast cancer anti-estrogen resistance 1							29.0	34.0	33.0					16																	75263909		2157	4228	6385	SO:0001587	stop_gained	9564				actin filament organization|B cell receptor signaling pathway|blood coagulation|cell adhesion|cell division|cell migration|cell proliferation|epidermal growth factor receptor signaling pathway|G-protein coupled receptor protein signaling pathway|insulin receptor signaling pathway|integrin-mediated signaling pathway|nerve growth factor receptor signaling pathway|platelet-derived growth factor receptor signaling pathway|positive regulation of cell migration|regulation of apoptosis|regulation of cell growth|T cell receptor signaling pathway	cytosol|focal adhesion|membrane fraction|ruffle	protein kinase binding|protein phosphatase binding|SH3 domain binding|signal transducer activity	g.chr16:75263909C>A	AJ242987	CCDS10915.1, CCDS54037.1, CCDS54038.1, CCDS54039.1, CCDS54040.1, CCDS54041.1, CCDS54042.1, CCDS54043.1	16q22-q23	2011-04-13			ENSG00000050820	ENSG00000050820		"""Cas scaffolding proteins"""	971	protein-coding gene	gene with protein product	"""Crk-associated substrate"", ""Cas scaffolding protein family member 1"""	602941				8413311, 10639512	Standard	NM_001170714		Approved	P130Cas, Crkas, CAS, CASS1	uc010vnb.2	P56945	OTTHUMG00000137604	ENST00000162330.5:c.2113G>T	16.37:g.75263909C>A	ENSP00000162330:p.Glu705*					BCAR1_ENST00000535626.2_Nonsense_Mutation_p.E557*|BCAR1_ENST00000542031.2_Nonsense_Mutation_p.E703*|BCAR1_ENST00000420641.3_Nonsense_Mutation_p.E723*|BCAR1_ENST00000393420.6_Nonsense_Mutation_p.E723*|BCAR1_ENST00000538440.2_Nonsense_Mutation_p.E705*|BCAR1_ENST00000566982.1_5'UTR|BCAR1_ENST00000162330.5_Nonsense_Mutation_p.E705*|BCAR1_ENST00000418647.3_Nonsense_Mutation_p.E751*|BCAR1_ENST00000393422.2_Nonsense_Mutation_p.E723*	p.E676*			P56945	BCAR1_HUMAN		BRCA - Breast invasive adenocarcinoma(221;0.169)	7	3678	-			705					B3KWD7|B4DEV4|B4DGB5|B4DIW5|B7Z7X7|E9PCL5|E9PCV2|F5GXA2|F5GXV6|F5H7Z0|F8WA69|Q6QEF7	Nonsense_Mutation	SNP	ENST00000162330.5	37	c.2026G>T	CCDS10915.1	.	.	.	.	.	.	.	.	.	.	C	38	7.163784	0.98107	.	.	ENSG00000050820	ENST00000162330;ENST00000393422;ENST00000420641;ENST00000538440;ENST00000418647;ENST00000535626;ENST00000393420;ENST00000542031;ENST00000546196	.	.	.	4.72	4.72	0.59763	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.38643	T	0.18	-40.4241	16.6397	0.85068	0.0:1.0:0.0:0.0	.	.	.	.	X	705;723;723;705;751;557;723;703;676	.	ENSP00000162330:E705X	E	-	1	0	BCAR1	73821410	1.000000	0.71417	1.000000	0.80357	0.516000	0.34256	2.983000	0.49345	2.328000	0.79073	0.557000	0.71058	GAA		0.667	BCAR1-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000269017.1	NM_014567		6	32	1	0	0.00198382	1	0.00215784	6	32				
POLR1B	84172	broad.mit.edu	37	2	113306903	113306903	+	Missense_Mutation	SNP	G	G	T			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr2:113306903G>T	ENST00000263331.5	+	4	1132	c.552G>T	c.(550-552)atG>atT	p.M184I	POLR1B_ENST00000537335.1_Intron|POLR1B_ENST00000541869.1_Missense_Mutation_p.M222I|POLR1B_ENST00000417433.2_Missense_Mutation_p.M128I|POLR1B_ENST00000409894.3_Missense_Mutation_p.M184I	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN	polymerase (RNA) I polypeptide B, 128kDa	184					gene expression (GO:0010467)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription initiation from RNA polymerase I promoter (GO:0006361)	cytoplasm (GO:0005737)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA-directed RNA polymerase activity (GO:0003899)|metal ion binding (GO:0046872)|ribonucleoside binding (GO:0032549)			breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						TGTTGATTATGCCTCGGAGAA	0.358																																					Ovarian(16;256 576 9537 23969 41147)	ENST00000263331.5																			0				breast(3)|endometrium(9)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	42						c.(550-552)atG>atT		polymerase (RNA) I polypeptide B, 128kDa							77.0	81.0	80.0					2																	113306903		2202	4300	6502	SO:0001583	missense	84172				termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding|DNA-directed RNA polymerase activity|metal ion binding|protein binding|ribonucleoside binding	g.chr2:113306903G>T	AK001678	CCDS2097.1, CCDS46395.1, CCDS62988.1, CCDS62989.1, CCDS62990.1	2q13	2013-01-21			ENSG00000125630	ENSG00000125630		"""RNA polymerase subunits"""	20454	protein-coding gene	gene with protein product		602000					Standard	NM_001137604		Approved	Rpo1-2, FLJ21921, FLJ10816, RPA2	uc002thw.2	Q9H9Y6	OTTHUMG00000131314	ENST00000263331.5:c.552G>T	2.37:g.113306903G>T	ENSP00000263331:p.Met184Ile					POLR1B_ENST00000409894.3_Missense_Mutation_p.M184I|POLR1B_ENST00000541869.1_Missense_Mutation_p.M222I|POLR1B_ENST00000417433.2_Missense_Mutation_p.M128I|POLR1B_ENST00000537335.1_Intron	p.M184I	NM_019014.4	NP_061887.2	Q9H9Y6	RPA2_HUMAN			4	1132	+			184					B7Z6Y7|B7Z823|F5GZX4|F8W898|Q2TAM4|Q585T5|Q6ZRR2|Q9H9D3	Missense_Mutation	SNP	ENST00000263331.5	37	c.552G>T	CCDS2097.1	.	.	.	.	.	.	.	.	.	.	G	21.7	4.183546	0.78677	.	.	ENSG00000125630	ENST00000263331;ENST00000541869;ENST00000409894;ENST00000417433	T;T;T;T	0.75821	-0.97;-0.97;-0.97;-0.97	5.63	5.63	0.86233	RNA polymerase, beta subunit, protrusion (1);	0.035798	0.85682	D	0.000000	T	0.75598	0.3871	M	0.68952	2.095	0.80722	D	1	B;P;B;B	0.34864	0.359;0.473;0.008;0.051	B;B;B;B	0.35688	0.132;0.208;0.037;0.159	T	0.77003	-0.2749	10	0.59425	D	0.04	-21.7374	18.4811	0.90812	0.0:0.0:1.0:0.0	.	222;184;128;184	F5GZX4;F8W898;Q9H9Y6-2;Q9H9Y6	.;.;.;RPA2_HUMAN	I	184;222;184;128	ENSP00000263331:M184I;ENSP00000444136:M222I;ENSP00000387143:M184I;ENSP00000405358:M128I	ENSP00000263331:M184I	M	+	3	0	POLR1B	113023374	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.797000	0.99108	2.652000	0.90054	0.655000	0.94253	ATG		0.358	POLR1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254083.1	NM_019014		8	79	1	0	7.48243e-07	1	9.09629e-07	8	79				
ORC5	5001	broad.mit.edu	37	7	103807333	103807333	+	Splice_Site	SNP	C	C	T			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr7:103807333C>T	ENST00000297431.4	-	10	1020		c.e10-1		ORC5_ENST00000545943.1_Splice_Site	NM_002553.3	NP_002544.1	O43913	ORC5_HUMAN	origin recognition complex, subunit 5						DNA replication (GO:0006260)|DNA replication initiation (GO:0006270)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)	cytoplasm (GO:0005737)|nuclear origin of replication recognition complex (GO:0005664)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|origin recognition complex (GO:0000808)	ATP binding (GO:0005524)|DNA replication origin binding (GO:0003688)|nucleotide binding (GO:0000166)			kidney(1)|large_intestine(2)|lung(9)|pancreas(1)|upper_aerodigestive_tract(1)	14						GCTGAGAGGCCTATATAACAA	0.363																																						ENST00000545943.1																			0				kidney(1)|large_intestine(2)|lung(9)|pancreas(1)|upper_aerodigestive_tract(1)	14						c.e11-1		origin recognition complex, subunit 5							83.0	86.0	85.0					7																	103807333		2203	4299	6502	SO:0001630	splice_region_variant	5001				cell cycle checkpoint|DNA-dependent DNA replication initiation|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|S phase of mitotic cell cycle	cytoplasm|nuclear origin of replication recognition complex|nucleoplasm	ATP binding|DNA replication origin binding|identical protein binding	g.chr7:103807333C>T		CCDS5734.1, CCDS47681.1	7q22.1	2014-06-13	2010-10-12	2010-10-12	ENSG00000164815	ENSG00000164815			8491	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 117"""	602331	"""origin recognition complex, subunit 5 (yeast homolog)-like"", ""origin recognition complex, subunit 5-like (yeast)"", ""origin recognition complex, subunit 5 homolog (yeast)"""	ORC5L		9417919, 9829972	Standard	NM_002553		Approved	Orc5p, ORC5T, PPP1R117	uc003vcb.3	O43913	OTTHUMG00000157275	ENST00000297431.4:c.878-1G>A	7.37:g.103807333C>T						ORC5_ENST00000297431.4_Splice_Site				O43913	ORC5_HUMAN			11	1107	-								A4D0P8|O60590|O95268	Splice_Site	SNP	ENST00000297431.4	37		CCDS5734.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.327956	0.81690	.	.	ENSG00000164815	ENST00000297431;ENST00000545943	.	.	.	5.39	5.39	0.77823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	18.7273	0.91718	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	ORC5	103594569	1.000000	0.71417	1.000000	0.80357	0.891000	0.51852	7.092000	0.76930	2.515000	0.84797	0.491000	0.48974	.		0.363	ORC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348286.1	NM_002553	Intron	8	91	0	0	0	1	0	8	91				
LRRC25	126364	broad.mit.edu	37	19	18507760	18507760	+	Missense_Mutation	SNP	A	A	C			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr19:18507760A>C	ENST00000339007.3	-	1	667	c.14T>G	c.(13-15)cTg>cGg	p.L5R	LRRC25_ENST00000595840.1_Missense_Mutation_p.L5R	NM_145256.2	NP_660299.2	Q8N386	LRC25_HUMAN	leucine rich repeat containing 25	5						integral component of membrane (GO:0016021)				endometrium(1)|large_intestine(3)|lung(3)|skin(1)	8						CGTCCATGCCAGGGTGCCCCC	0.617																																						ENST00000339007.3																			0				endometrium(1)|large_intestine(3)|lung(3)|skin(1)	8						c.(13-15)cTg>cGg		leucine rich repeat containing 25							27.0	25.0	26.0					19																	18507760		2202	4298	6500	SO:0001583	missense	126364					integral to membrane		g.chr19:18507760A>C	AK095435	CCDS12377.1	19p13.11	2013-09-20			ENSG00000175489	ENSG00000175489			29806	protein-coding gene	gene with protein product		607518				12384430	Standard	NM_145256		Approved	MAPA, FLJ38116	uc002niw.3	Q8N386	OTTHUMG00000183361	ENST00000339007.3:c.14T>G	19.37:g.18507760A>C	ENSP00000340983:p.Leu5Arg					LRRC25_ENST00000595840.1_Missense_Mutation_p.L5R	p.L5R	NM_145256.2	NP_660299.2	Q8N386	LRC25_HUMAN			1	667	-			5					Q6IQ00|Q8N9A5	Missense_Mutation	SNP	ENST00000339007.3	37	c.14T>G	CCDS12377.1	.	.	.	.	.	.	.	.	.	.	A	15.78	2.934349	0.52866	.	.	ENSG00000175489	ENST00000339007	T	0.52754	0.65	4.0	2.96	0.34315	.	0.000000	0.30859	N	0.008739	T	0.53916	0.1826	L	0.52573	1.65	0.09310	N	1	D	0.71674	0.998	P	0.61328	0.887	T	0.43310	-0.9399	10	0.87932	D	0	-2.8434	6.8455	0.23987	0.8851:0.0:0.1149:0.0	.	5	Q8N386	LRC25_HUMAN	R	5	ENSP00000340983:L5R	ENSP00000340983:L5R	L	-	2	0	LRRC25	18368760	0.002000	0.14202	0.007000	0.13788	0.119000	0.20118	0.822000	0.27352	0.643000	0.30638	0.459000	0.35465	CTG		0.617	LRRC25-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466342.1	NM_145256		3	19	0	0	0	1	0	3	19				
GPR149	344758	broad.mit.edu	37	3	154055525	154055525	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr3:154055525G>A	ENST00000389740.2	-	4	2258	c.2159C>T	c.(2158-2160)gCt>gTt	p.A720V		NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	G protein-coupled receptor 149	720					antral ovarian follicle growth (GO:0001547)|estrous cycle phase (GO:0060206)|negative regulation of ovulation (GO:0060280)|preantral ovarian follicle growth (GO:0001546)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)	p.A720V(1)		autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47			LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)			TTTTCTGTAAGCTTTATTTAA	0.433																																						ENST00000389740.2																			1	Substitution - Missense(1)	p.A720V(1)	ovary(1)	autonomic_ganglia(1)|breast(1)|endometrium(4)|kidney(2)|large_intestine(6)|lung(22)|ovary(7)|prostate(1)|skin(1)|urinary_tract(2)	47						c.(2158-2160)gCt>gTt		G protein-coupled receptor 149							315.0	291.0	299.0					3																	154055525		1914	4119	6033	SO:0001583	missense	344758					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr3:154055525G>A	AY255534	CCDS43162.1	3q25.2	2012-08-21			ENSG00000174948	ENSG00000174948		"""GPCR / Class A : Orphans"""	23627	protein-coding gene	gene with protein product						12679517	Standard	NM_001038705		Approved	PGR10, IEDA	uc003faa.3	Q86SP6	OTTHUMG00000159131	ENST00000389740.2:c.2159C>T	3.37:g.154055525G>A	ENSP00000374390:p.Ala720Val						p.A720V	NM_001038705.1	NP_001033794.1	Q86SP6	GP149_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.114)|Lung(72;0.173)		4	2258	-			720						Missense_Mutation	SNP	ENST00000389740.2	37	c.2159C>T	CCDS43162.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.468079	0.84533	.	.	ENSG00000174948	ENST00000389740	.	.	.	5.8	4.93	0.64822	.	0.000000	0.85682	D	0.000000	T	0.49029	0.1533	N	0.24115	0.695	0.58432	D	0.999994	D	0.56521	0.976	P	0.50192	0.634	T	0.55412	-0.8145	9	0.87932	D	0	-11.7316	14.7238	0.69329	0.0692:0.0:0.9308:0.0	.	720	Q86SP6	GP149_HUMAN	V	720	.	ENSP00000374390:A720V	A	-	2	0	GPR149	155538219	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.433000	0.66520	1.456000	0.47831	0.650000	0.86243	GCT		0.433	GPR149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353430.1	XM_293580		27	63	0	0	0	1	0	27	63				
NYNRIN	57523	broad.mit.edu	37	14	24879189	24879189	+	Missense_Mutation	SNP	C	C	T			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr14:24879189C>T	ENST00000382554.3	+	4	2507	c.2189C>T	c.(2188-2190)aCc>aTc	p.T730I		NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN	NYN domain and retroviral integrase containing	730					DNA integration (GO:0015074)	integral component of membrane (GO:0016021)	nucleic acid binding (GO:0003676)			breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						TCCAGTGGCACCTTGGCCCTC	0.637																																						ENST00000382554.3																			0				breast(3)|central_nervous_system(1)|endometrium(7)|kidney(6)|large_intestine(8)|lung(21)|ovary(2)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	56						c.(2188-2190)aCc>aTc		NYN domain and retroviral integrase containing							24.0	28.0	27.0					14																	24879189		1959	4137	6096	SO:0001583	missense	57523				DNA integration	integral to membrane	DNA binding	g.chr14:24879189C>T	AB037726	CCDS45090.1	14q11.2	2009-10-14	2009-10-14	2009-10-14		ENSG00000205978			20165	protein-coding gene	gene with protein product	"""Cousin of GIN1"""		"""KIAA1305"""	KIAA1305		19561090, 17114934	Standard	NM_025081		Approved	FLJ11811, CGIN1	uc001wpf.4	Q9P2P1		ENST00000382554.3:c.2189C>T	14.37:g.24879189C>T	ENSP00000371994:p.Thr730Ile						p.T730I	NM_025081.2	NP_079357.2	Q9P2P1	NYNRI_HUMAN			4	2507	+			730					Q6P153|Q86TR3|Q9HAC4	Missense_Mutation	SNP	ENST00000382554.3	37	c.2189C>T	CCDS45090.1	.	.	.	.	.	.	.	.	.	.	C	19.33	3.806350	0.70682	.	.	ENSG00000205978	ENST00000382554	T	0.11821	2.74	4.48	3.57	0.40892	.	.	.	.	.	T	0.15176	0.0366	L	0.27053	0.805	0.25441	N	0.988094	D	0.58620	0.983	P	0.50314	0.637	T	0.07947	-1.0746	9	0.87932	D	0	.	9.8008	0.40764	0.2056:0.7944:0.0:0.0	.	730	Q9P2P1	NYNRI_HUMAN	I	730	ENSP00000371994:T730I	ENSP00000371994:T730I	T	+	2	0	NYNRIN	23949029	0.003000	0.15002	0.884000	0.34674	0.315000	0.28087	0.299000	0.19138	1.211000	0.43351	0.655000	0.94253	ACC		0.637	NYNRIN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412939.1			17	9	0	0	0	1	0	17	9				
PNISR	25957	broad.mit.edu	37	6	99854007	99854007	+	Missense_Mutation	SNP	T	T	G			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr6:99854007T>G	ENST00000369239.5	-	8	1106	c.902A>C	c.(901-903)gAg>gCg	p.E301A	PNISR_ENST00000438806.1_Missense_Mutation_p.E301A	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN	PNN-interacting serine/arginine-rich protein	301						cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						ACTTGCAGCCTCAACATTTTC	0.393																																						ENST00000369239.5																			0				breast(2)|cervix(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	24						c.(901-903)gAg>gCg		PNN-interacting serine/arginine-rich protein							207.0	185.0	193.0					6																	99854007		2203	4300	6503	SO:0001583	missense	25957					nuclear speck		g.chr6:99854007T>G	AK027759	CCDS5043.1	6q16.3	2011-06-06	2011-06-06	2011-06-06	ENSG00000132424	ENSG00000132424			21222	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 111"", ""splicing factor, arginine/serine-rich 18"""	C6orf111, SFRS18		14578391	Standard	NM_032870		Approved	FLJ14752, bA98I9.2, DKFZp564B0769, SRrp130	uc021zdd.1	Q8TF01	OTTHUMG00000015262	ENST00000369239.5:c.902A>C	6.37:g.99854007T>G	ENSP00000358242:p.Glu301Ala					PNISR_ENST00000438806.1_Missense_Mutation_p.E301A	p.E301A	NM_032870.2	NP_116259.2	Q8TF01	PNISR_HUMAN			8	1106	-			301					A8K540|E1P5D2|Q5T064|Q5T065|Q6P2B4|Q6P2N4|Q6PJ93|Q6PK36|Q7Z640|Q8N2L1|Q8TF00|Q96K10|Q96SI3|Q96SM5|Q9P076|Q9P0C0|Q9Y4N3	Missense_Mutation	SNP	ENST00000369239.5	37	c.902A>C	CCDS5043.1	.	.	.	.	.	.	.	.	.	.	T	23.9	4.469371	0.84533	.	.	ENSG00000132424	ENST00000369239;ENST00000438806	T;T	0.55052	0.54;0.54	5.57	5.57	0.84162	.	0.046027	0.85682	D	0.000000	T	0.47710	0.1460	L	0.46741	1.465	0.80722	D	1	D	0.60160	0.987	P	0.53954	0.738	T	0.37842	-0.9688	10	0.27785	T	0.31	.	16.0108	0.80402	0.0:0.0:0.0:1.0	.	301	Q8TF01	PNISR_HUMAN	A	301	ENSP00000358242:E301A;ENSP00000387997:E301A	ENSP00000358242:E301A	E	-	2	0	PNISR	99960728	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.302000	0.72788	2.242000	0.73789	0.482000	0.46254	GAG		0.393	PNISR-007	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041598.1	NM_032870		7	52	0	0	0	1	0	7	52				
TCEB3	6924	broad.mit.edu	37	1	24080933	24080933	+	Missense_Mutation	SNP	A	A	T			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr1:24080933A>T	ENST00000418390.2	+	7	2123	c.1852A>T	c.(1852-1854)Ata>Tta	p.I618L	TCEB3_ENST00000609199.1_Missense_Mutation_p.I592L	NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN	transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)	618	Activation domain. {ECO:0000250}.|F-box. {ECO:0000255|PROSITE- ProRule:PRU00080}.				gene expression (GO:0010467)|positive regulation of viral transcription (GO:0050434)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	extracellular space (GO:0005615)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)		GCTGTATCGCATAGAGGAATA	0.478																																						ENST00000418390.2																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|pancreas(1)|prostate(2)|skin(1)	19						c.(1852-1854)Ata>Tta		transcription elongation factor B (SIII), polypeptide 3 (110kDa, elongin A)							141.0	128.0	132.0					1																	24080933		2203	4300	6503	SO:0001583	missense	6924				positive regulation of viral transcription|regulation of transcription from RNA polymerase II promoter|transcription elongation from RNA polymerase II promoter|viral reproduction	integral to membrane	DNA binding	g.chr1:24080933A>T	L47345	CCDS239.2	1p36.1	2010-06-22	2002-08-29		ENSG00000011007	ENSG00000011007			11620	protein-coding gene	gene with protein product		600786	"""transcription elongation factor B (SIII), polypeptide 3 (110kD, elongin A)"""			8586449, 7660129	Standard	NM_003198		Approved	SIII, TCEB3A	uc001bho.3	Q14241	OTTHUMG00000002957	ENST00000418390.2:c.1852A>T	1.37:g.24080933A>T	ENSP00000395574:p.Ile618Leu						p.I618L	NM_003198.2	NP_003189.2	Q14241	ELOA1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0227)|OV - Ovarian serous cystadenocarcinoma(117;2.42e-24)|Colorectal(126;5.5e-08)|COAD - Colon adenocarcinoma(152;3.09e-06)|GBM - Glioblastoma multiforme(114;4.74e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000973)|KIRC - Kidney renal clear cell carcinoma(1967;0.00334)|STAD - Stomach adenocarcinoma(196;0.0127)|READ - Rectum adenocarcinoma(331;0.0649)|Lung(427;0.0853)|LUSC - Lung squamous cell carcinoma(448;0.187)	7	2123	+		Colorectal(325;3.46e-05)|Lung NSC(340;0.000112)|all_lung(284;0.00016)|Renal(390;0.000219)|Breast(348;0.0044)|Ovarian(437;0.00539)|Myeloproliferative disorder(586;0.0255)	618			Activation domain (By similarity).|F-box.		B2R7Q8|Q8IXH1	Missense_Mutation	SNP	ENST00000418390.2	37	c.1852A>T	CCDS239.2	.	.	.	.	.	.	.	.	.	.	A	24.3	4.514675	0.85389	.	.	ENSG00000011007	ENST00000418390	T	0.26957	1.7	5.41	5.41	0.78517	F-box domain, cyclin-like (1);	0.185215	0.37219	N	0.002198	T	0.26376	0.0644	N	0.25890	0.77	0.80722	D	1	P	0.47604	0.898	P	0.49192	0.602	T	0.01951	-1.1241	10	0.22706	T	0.39	-9.8063	15.7353	0.77837	1.0:0.0:0.0:0.0	.	618	Q14241	ELOA1_HUMAN	L	618	ENSP00000395574:I618L	ENSP00000395574:I618L	I	+	1	0	TCEB3	23953520	1.000000	0.71417	0.942000	0.38095	0.978000	0.69477	9.307000	0.96226	2.179000	0.69175	0.379000	0.24179	ATA		0.478	TCEB3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000008230.2	NM_003198		17	33	0	0	0	1	0	17	33				
GIT2	9815	broad.mit.edu	37	12	110385263	110385263	+	Missense_Mutation	SNP	G	G	C			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr12:110385263G>C	ENST00000355312.3	-	15	1438	c.1439C>G	c.(1438-1440)aCa>aGa	p.T480R	GIT2_ENST00000551209.1_Missense_Mutation_p.T429R|GIT2_ENST00000553118.1_Intron|GIT2_ENST00000356259.4_Intron|GIT2_ENST00000360185.4_Missense_Mutation_p.T430R|GIT2_ENST00000457474.2_Missense_Mutation_p.T432R|GIT2_ENST00000338373.5_Intron|GIT2_ENST00000354574.4_Missense_Mutation_p.T432R|GIT2_ENST00000547815.1_3'UTR|GIT2_ENST00000361006.5_Missense_Mutation_p.T480R|TCHP_ENST00000550780.1_Intron|GIT2_ENST00000343646.5_Missense_Mutation_p.T400R	NM_057169.3	NP_476510.1	Q14161	GIT2_HUMAN	G protein-coupled receptor kinase interacting ArfGAP 2	480					behavioral response to pain (GO:0048266)|regulation of ARF GTPase activity (GO:0032312)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	focal adhesion (GO:0005925)|nucleoplasm (GO:0005654)	ARF GTPase activator activity (GO:0008060)|zinc ion binding (GO:0008270)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						TACATTGGTTGTGGCCTGTTT	0.468																																						ENST00000360185.4																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(8)|skin(4)	27						c.(1288-1290)aCa>aGa		G protein-coupled receptor kinase interacting ArfGAP 2							152.0	145.0	147.0					12																	110385263		2203	4300	6503	SO:0001583	missense	9815				regulation of ARF GTPase activity|regulation of G-protein coupled receptor protein signaling pathway	nucleoplasm	ARF GTPase activator activity|protein binding|zinc ion binding	g.chr12:110385263G>C	AF124491	CCDS9138.1, CCDS9139.1, CCDS44968.1, CCDS44969.1, CCDS55884.1	12q24.1	2013-01-10	2008-09-05			ENSG00000139436		"""ADP-ribosylation factor GTPase activating proteins"", ""Ankyrin repeat domain containing"""	4273	protein-coding gene	gene with protein product		608564	"""G protein-coupled receptor kinase interactor 2"""			9826657, 10896954	Standard	NM_139201		Approved	KIAA0148	uc001tps.2	Q14161	OTTHUMG00000169313	ENST00000355312.3:c.1439C>G	12.37:g.110385263G>C	ENSP00000347464:p.Thr480Arg					TCHP_ENST00000550780.1_Intron|GIT2_ENST00000553118.1_Intron|GIT2_ENST00000338373.5_Intron|GIT2_ENST00000457474.2_Missense_Mutation_p.T432R|GIT2_ENST00000361006.5_Missense_Mutation_p.T480R|GIT2_ENST00000354574.4_Missense_Mutation_p.T432R|GIT2_ENST00000343646.5_Missense_Mutation_p.T400R|GIT2_ENST00000356259.4_Intron|GIT2_ENST00000355312.3_Missense_Mutation_p.T480R|GIT2_ENST00000551209.1_Missense_Mutation_p.T429R|GIT2_ENST00000547815.1_3'UTR	p.T430R			Q14161	GIT2_HUMAN			14	1453	-			480					Q86U59|Q96CI2|Q9BV91|Q9Y5V2	Missense_Mutation	SNP	ENST00000355312.3	37	c.1289C>G	CCDS9138.1	.	.	.	.	.	.	.	.	.	.	G	13.59	2.281740	0.40394	.	.	ENSG00000139436	ENST00000355312;ENST00000360185;ENST00000354574;ENST00000343646;ENST00000457474;ENST00000361006;ENST00000551209;ENST00000542273	T;T;T;T;T;T;T	0.74526	-0.62;-0.71;-0.85;-0.77;-0.81;-0.62;-0.74	5.97	5.07	0.68467	.	0.239258	0.48767	D	0.000172	T	0.69088	0.3072	L	0.57536	1.79	0.80722	D	1	P;P;B;B;P	0.39940	0.534;0.534;0.028;0.029;0.696	B;B;B;B;B	0.35813	0.142;0.211;0.024;0.01;0.189	T	0.67197	-0.5731	10	0.20046	T	0.44	.	16.3183	0.82936	0.0:0.1323:0.8676:0.0	.	432;432;480;418;480	Q14161-10;F8WAK2;Q14161;B4E027;Q14161-5	.;.;GIT2_HUMAN;.;.	R	480;430;432;400;432;480;429;418	ENSP00000347464:T480R;ENSP00000353312:T430R;ENSP00000346585:T432R;ENSP00000340938:T400R;ENSP00000391813:T432R;ENSP00000354282:T480R;ENSP00000448832:T429R	ENSP00000340938:T400R	T	-	2	0	GIT2	108869646	1.000000	0.71417	1.000000	0.80357	0.574000	0.36063	8.991000	0.93514	1.519000	0.48950	-0.310000	0.09108	ACA		0.468	GIT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403407.1	NM_057169		18	80	0	0	0	1	0	18	80				
WASH6P	653440	broad.mit.edu	37	X	155252868	155252868	+	RNA	SNP	T	T	A			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chrX:155252868T>A	ENST00000461007.1	+	0	1876				AJ271736.10_ENST00000285718.7_RNA			Q9NQA3	WASH6_HUMAN	WAS protein family homolog 6 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)	p.P304P(5)									TAGCCGAGCCTCTCAAGGCAG	0.632																																						ENST00000285718.7																			5	Substitution - coding silent(5)	p.P304P(5)	kidney(3)|endometrium(2)																																																653440							g.chrX:155252868T>A	AI042587		Xq28 and Yq12	2014-08-28	2008-01-16	2008-01-16	ENSG00000182484	ENSG00000182484		"""Pseudoautosomal regions / PAR2"", ""WAS protein homologs"""	31685	pseudogene	pseudogene			"""family with sequence similarity 39, member A"", ""chromosomes X and Y open reading frame 1"""	FAM39A, CXYorf1		10655549, 12566406, 18159949	Standard	NG_008380		Approved			Q9NQA3	OTTHUMG00000022677		X.37:g.155252868T>A						WASH6P_ENST00000461007.1_RNA								0	819	+								A6NGF1|Q8N305	RNA	SNP	ENST00000461007.1	37																																																																																						0.632	WASH6P-016	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000058840.1	NG_008380		4	4	0	0	0	1	0	4	4				
JADE2	23338	broad.mit.edu	37	5	133914681	133914681	+	Missense_Mutation	SNP	G	G	A			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr5:133914681G>A	ENST00000282605.4	+	12	2265	c.2179G>A	c.(2179-2181)Gag>Aag	p.E727K	PHF15_ENST00000402835.1_3'UTR|PHF15_ENST00000361895.2_Missense_Mutation_p.E684K|PHF15_ENST00000395003.1_Missense_Mutation_p.E683K																NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22			KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)			GACCCCGGACGAGGCAGCCTC	0.667																																						ENST00000395003.1																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(6)|prostate(1)|skin(1)	22						c.(2047-2049)Gag>Aag									53.0	64.0	61.0					5																	133914681		2202	4299	6501	SO:0001583	missense	23338				histone H3 acetylation|histone H4-K12 acetylation|histone H4-K5 acetylation|histone H4-K8 acetylation	histone acetyltransferase complex	zinc ion binding	g.chr5:133914681G>A																												ENST00000282605.4:c.2179G>A	5.37:g.133914681G>A	ENSP00000282605:p.Glu727Lys					PHF15_ENST00000402835.1_3'UTR|PHF15_ENST00000282605.4_Missense_Mutation_p.E727K|PHF15_ENST00000361895.2_Missense_Mutation_p.E684K	p.E683K	NM_015288.4	NP_056103.4	Q9NQC1	JADE2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)		11	2226	+			683			Pro-rich.			Missense_Mutation	SNP	ENST00000282605.4	37	c.2047G>A		.	.	.	.	.	.	.	.	.	.	G	7.586	0.669852	0.14776	.	.	ENSG00000043143	ENST00000413974;ENST00000448712;ENST00000282605;ENST00000361895;ENST00000432594;ENST00000395003	T;T;T	0.46819	0.86;0.89;0.89	4.89	1.8	0.24995	.	1.633890	0.03467	N	0.213030	T	0.25232	0.0613	N	0.08118	0	0.09310	N	1	B;B;B	0.02656	0.0;0.0;0.0	B;B;B	0.01281	0.0;0.0;0.0	T	0.22941	-1.0202	10	0.07325	T	0.83	.	5.9915	0.19470	0.2302:0.1369:0.6329:0.0	.	683;684;743	Q9NQC1;D3DQA3;B3KPL2	JADE2_HUMAN;.;.	K	686;743;727;684;684;683	ENSP00000282605:E727K;ENSP00000354425:E684K;ENSP00000378451:E683K	ENSP00000282605:E727K	E	+	1	0	PHF15	133942580	1.000000	0.71417	0.943000	0.38184	0.759000	0.43091	4.312000	0.59154	1.027000	0.39758	0.313000	0.20887	GAG		0.667	PHF15-003	NOVEL	alternative_5_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000251170.1			15	102	0	0	0	1	0	15	102				
SFTPB	6439	broad.mit.edu	37	2	85892817	85892817	+	Missense_Mutation	SNP	C	C	T	rs370750455		TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr2:85892817C>T	ENST00000519937.2	-	5	513	c.494G>A	c.(493-495)cGg>cAg	p.R165Q	SFTPB_ENST00000342375.3_Missense_Mutation_p.R165Q|SFTPB_ENST00000393822.3_Missense_Mutation_p.R177Q|SFTPB_ENST00000409383.1_Missense_Mutation_p.R177Q			P07988	PSPB_HUMAN	surfactant protein B	165					organ morphogenesis (GO:0009887)|respiratory gaseous exchange (GO:0007585)|sphingolipid metabolic process (GO:0006665)	extracellular region (GO:0005576)|lysosome (GO:0005764)		p.R165Q(1)		central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)	16						CAGAGGGTCCCGCAGAGGTTT	0.667													c|||	1	0.000199681	0.0	0.0	5008	,	,		17274	0.0		0.001	False		,,,				2504	0.0					ENST00000342375.3																			1	Substitution - Missense(1)	p.R165Q(1)	large_intestine(1)	central_nervous_system(1)|endometrium(1)|large_intestine(6)|lung(3)|ovary(1)|prostate(1)|skin(3)	16						c.(493-495)cGg>cAg		surfactant protein B			GLN/ARG,GLN/ARG	0,4406		0,0,2203	53.0	55.0	54.0		530,530	0.2	0.0	2		54	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	SFTPB	NM_000542.3,NM_198843.2	43,43	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign,benign	177/394,177/394	85892817	1,13005	2203	4300	6503	SO:0001583	missense	6439				organ morphogenesis|respiratory gaseous exchange|sphingolipid metabolic process	extracellular space|lysosome		g.chr2:85892817C>T	J02761	CCDS1983.1, CCDS1983.2	2p12-p11.2	2008-08-26	2008-08-26		ENSG00000168878	ENSG00000168878			10801	protein-coding gene	gene with protein product		178640	"""surfactant, pulmonary-associated protein B"""	SFTP3		2924687, 1346779	Standard	NM_198843		Approved	SP-B	uc002sqh.3	P07988	OTTHUMG00000130181	ENST00000519937.2:c.494G>A	2.37:g.85892817C>T	ENSP00000428719:p.Arg165Gln					SFTPB_ENST00000409383.1_Missense_Mutation_p.R177Q|SFTPB_ENST00000393822.3_Missense_Mutation_p.R177Q|SFTPB_ENST00000519937.2_Missense_Mutation_p.R165Q	p.R165Q	NM_000542.3|NM_198843.2	NP_000533.3|NP_942140.2	P07988	PSPB_HUMAN			6	629	-			165					Q96R04	Missense_Mutation	SNP	ENST00000519937.2	37	c.494G>A		.	.	.	.	.	.	.	.	.	.	c	1.599	-0.526996	0.04141	0.0	1.16E-4	ENSG00000168878	ENST00000519937;ENST00000393822;ENST00000342375;ENST00000409383;ENST00000441838	T;T;T;T	0.68903	0.68;-0.18;-0.36;-0.18	1.21	0.164	0.14990	.	1.074710	0.07470	N	0.902121	T	0.37865	0.1019	N	0.08118	0	0.09310	N	1	B;B	0.19817	0.0;0.039	B;B	0.06405	0.0;0.002	T	0.22347	-1.0219	10	0.13108	T	0.6	.	2.8028	0.05419	0.0:0.6223:0.0:0.3777	.	177;165	D6W5L6;P07988	.;PSPB_HUMAN	Q	167;177;165;177;133	ENSP00000428719:R167Q;ENSP00000377409:R177Q;ENSP00000345161:R165Q;ENSP00000386346:R177Q	ENSP00000345161:R165Q	R	-	2	0	SFTPB	85746328	0.000000	0.05858	0.022000	0.16811	0.044000	0.14063	-1.761000	0.01805	0.503000	0.28060	0.506000	0.49869	CGG		0.667	SFTPB-001	KNOWN	alternative_3_UTR|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000252499.3	NM_198843		18	76	0	0	0	1	0	18	76				
OR51B4	79339	broad.mit.edu	37	11	5323027	5323027	+	Missense_Mutation	SNP	A	A	T			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr11:5323027A>T	ENST00000380224.1	-	1	199	c.150T>A	c.(148-150)gaT>gaA	p.D50E	HBG2_ENST00000380259.2_Intron|HBG2_ENST00000380252.1_Intron|HBE1_ENST00000380237.1_Intron	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN	olfactory receptor, family 51, subfamily B, member 4	50					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)		GGAGGCTGTGATCATTCCAAA	0.502																																						ENST00000380224.1																			0				breast(2)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(7)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	20						c.(148-150)gaT>gaA		olfactory receptor, family 51, subfamily B, member 4							100.0	95.0	97.0					11																	5323027		2201	4297	6498	SO:0001583	missense	79339				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:5323027A>T	BC069094	CCDS7757.1	11p15.4	2012-08-09			ENSG00000183251	ENSG00000183251		"""GPCR / Class A : Olfactory receptors"""	14708	protein-coding gene	gene with protein product							Standard	NM_033179		Approved		uc010qza.2	Q9Y5P0	OTTHUMG00000066665	ENST00000380224.1:c.150T>A	11.37:g.5323027A>T	ENSP00000369573:p.Asp50Glu					HBE1_ENST00000380237.1_Intron|HBG2_ENST00000380252.1_Intron|HBG2_ENST00000380259.2_Intron	p.D50E	NM_033179.2	NP_149419.2	Q9Y5P0	O51B4_HUMAN		Epithelial(150;2.76e-09)|BRCA - Breast invasive adenocarcinoma(625;0.135)	1	199	-		Medulloblastoma(188;0.00225)|Breast(177;0.0155)|all_neural(188;0.0212)	50					A7MAV5|Q6NTD7	Missense_Mutation	SNP	ENST00000380224.1	37	c.150T>A	CCDS7757.1	.	.	.	.	.	.	.	.	.	.	A	0.005	-2.123425	0.00346	.	.	ENSG00000183251	ENST00000380224	T	0.03951	3.75	4.39	0.212	0.15240	GPCR, rhodopsin-like superfamily (1);	0.120271	0.37178	N	0.002211	T	0.02571	0.0078	L	0.35542	1.07	0.09310	N	1	B	0.23735	0.09	B	0.27076	0.076	T	0.44065	-0.9352	10	0.02654	T	1	.	1.731	0.02931	0.2428:0.1402:0.4731:0.1439	.	50	Q9Y5P0	O51B4_HUMAN	E	50	ENSP00000369573:D50E	ENSP00000369573:D50E	D	-	3	2	OR51B4	5279603	0.000000	0.05858	0.006000	0.13384	0.071000	0.16799	-2.563000	0.00919	0.126000	0.18424	-0.146000	0.13790	GAT		0.502	OR51B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000142956.2	NM_033179		17	39	0	0	0	1	0	17	39				
URGCP	55665	broad.mit.edu	37	7	43917245	43917245	+	Missense_Mutation	SNP	A	A	C			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr7:43917245A>C	ENST00000453200.1	-	6	2310	c.1817T>G	c.(1816-1818)cTc>cGc	p.L606R	URGCP_ENST00000447717.3_Missense_Mutation_p.L563R|URGCP-MRPS24_ENST00000603700.1_Intron|URGCP_ENST00000336086.6_Missense_Mutation_p.L563R|URGCP_ENST00000223341.7_Missense_Mutation_p.L563R|URGCP_ENST00000402306.3_Missense_Mutation_p.L597R|URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000443736.1_Missense_Mutation_p.L563R			Q8TCY9	URGCP_HUMAN	upregulator of cell proliferation	606					cell cycle (GO:0007049)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	GTP binding (GO:0005525)			breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CTCAGGCCAGAGCGGCTCCCC	0.657																																						ENST00000336086.6																			0				breast(3)|endometrium(4)|kidney(2)|large_intestine(3)|liver(1)|lung(13)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(1687-1689)cTc>cGc		upregulator of cell proliferation							51.0	59.0	57.0					7																	43917245		2010	4160	6170	SO:0001583	missense	55665				cell cycle	centrosome|nucleus	GTP binding	g.chr7:43917245A>C		CCDS43572.1, CCDS47577.1, CCDS47578.1	7p13	2010-02-17			ENSG00000106608	ENSG00000106608			30890	protein-coding gene	gene with protein product	"""up-regulated gene 4"""	610337				10819331, 12082552	Standard	NM_017920		Approved	URG4, KIAA1507, FLJ20654, DKFZp666G166, DKFZp686O0457	uc003tiw.3	Q8TCY9	OTTHUMG00000155245	ENST00000453200.1:c.1817T>G	7.37:g.43917245A>C	ENSP00000396918:p.Leu606Arg					URGCP_ENST00000497914.1_5'UTR|URGCP_ENST00000443736.1_Missense_Mutation_p.L563R|URGCP_ENST00000402306.3_Missense_Mutation_p.L597R|URGCP_ENST00000223341.7_Missense_Mutation_p.L563R|URGCP_ENST00000453200.1_Missense_Mutation_p.L606R|RP5-1165K10.1_ENST00000603700.1_Intron|URGCP_ENST00000447717.3_Missense_Mutation_p.L563R	p.L563R			Q8TCY9	URGCP_HUMAN			4	3924	-			606					E9PFF6|Q658M4|Q68DH6|Q6MZZ5|Q8WV98|Q9NWR7|Q9P221	Missense_Mutation	SNP	ENST00000453200.1	37	c.1688T>G	CCDS47578.1	.	.	.	.	.	.	.	.	.	.	A	6.393	0.440684	0.12104	.	.	ENSG00000106608	ENST00000223341;ENST00000336086;ENST00000402306;ENST00000443736;ENST00000453200;ENST00000447717	T;T;T;T;T;T	0.12255	2.71;2.71;2.71;2.71;2.7;2.71	5.79	0.488	0.16848	.	0.549649	0.18557	N	0.137727	T	0.09158	0.0226	L	0.36672	1.1	0.09310	N	1	B;B	0.18610	0.029;0.029	B;B	0.14578	0.011;0.011	T	0.23368	-1.0190	10	0.46703	T	0.11	-9.063	4.98	0.14160	0.5907:0.148:0.2613:0.0	.	597;606	Q8TCY9-2;Q8TCY9	.;URGCP_HUMAN	R	563;563;597;563;606;563	ENSP00000223341:L563R;ENSP00000336872:L563R;ENSP00000384955:L597R;ENSP00000392136:L563R;ENSP00000396918:L606R;ENSP00000402803:L563R	ENSP00000223341:L563R	L	-	2	0	URGCP	43883770	0.001000	0.12720	0.013000	0.15412	0.514000	0.34195	0.533000	0.23082	0.121000	0.18284	0.533000	0.62120	CTC		0.657	URGCP-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000338995.1	NM_001077664		21	62	0	0	0	1	0	21	62				
DISP1	84976	broad.mit.edu	37	1	223176649	223176649	+	Missense_Mutation	SNP	C	C	T	rs148231227		TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr1:223176649C>T	ENST00000284476.6	+	8	2074	c.1910C>T	c.(1909-1911)gCg>gTg	p.A637V		NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN	dispatched homolog 1 (Drosophila)	637	SSD. {ECO:0000255|PROSITE- ProRule:PRU00199}.				determination of left/right symmetry (GO:0007368)|diaphragm development (GO:0060539)|dorsal/ventral pattern formation (GO:0009953)|embryonic pattern specification (GO:0009880)|patched ligand maturation (GO:0007225)|peptide transport (GO:0015833)|protein homotrimerization (GO:0070207)|regulation of protein secretion (GO:0050708)|smoothened signaling pathway (GO:0007224)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)|peptide transporter activity (GO:0015197)	p.A637V(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69				GBM - Glioblastoma multiforme(131;0.102)		GGGGTTTATGCGGGGACAGCT	0.448													C|||	1	0.000199681	0.0008	0.0	5008	,	,		21104	0.0		0.0	False		,,,				2504	0.0					ENST00000284476.6																			1	Substitution - Missense(1)	p.A637V(1)	prostate(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(3)|large_intestine(20)|lung(25)|prostate(4)|skin(1)|stomach(1)|urinary_tract(5)	69						c.(1909-1911)gCg>gTg		dispatched homolog 1 (Drosophila)							117.0	107.0	111.0					1																	223176649		2203	4300	6503	SO:0001583	missense	84976				diaphragm development|protein homotrimerization|regulation of protein secretion|smoothened signaling pathway	basolateral plasma membrane|integral to membrane	hedgehog receptor activity|peptide transporter activity	g.chr1:223176649C>T	AK056569	CCDS1536.1	1q42.12	2008-02-05			ENSG00000154309	ENSG00000154309			19711	protein-coding gene	gene with protein product		607502				10619433	Standard	NM_032890		Approved	DISPA, MGC13130, DKFZP434I0428, MGC16796	uc001hnu.2	Q96F81	OTTHUMG00000037893	ENST00000284476.6:c.1910C>T	1.37:g.223176649C>T	ENSP00000284476:p.Ala637Val						p.A637V	NM_032890.3	NP_116279.2	Q96F81	DISP1_HUMAN		GBM - Glioblastoma multiforme(131;0.102)	8	2074	+			637			SSD.		Q8N7C2|Q96I92|Q9H698|Q9H8H9|Q9UFA2	Missense_Mutation	SNP	ENST00000284476.6	37	c.1910C>T	CCDS1536.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	15.67	2.902435	0.52227	.	.	ENSG00000154309	ENST00000284476	D	0.90900	-2.75	5.91	5.91	0.95273	Sterol-sensing domain (1);	0.000000	0.85682	D	0.000000	D	0.95284	0.8470	M	0.76170	2.325	0.80722	D	1	D	0.89917	1.0	D	0.74674	0.984	D	0.94353	0.7581	10	0.49607	T	0.09	-33.4464	20.2983	0.98569	0.0:1.0:0.0:0.0	.	637	Q96F81	DISP1_HUMAN	V	637	ENSP00000284476:A637V	ENSP00000284476:A637V	A	+	2	0	DISP1	221243272	1.000000	0.71417	0.564000	0.28396	0.121000	0.20230	7.818000	0.86416	2.802000	0.96397	0.655000	0.94253	GCG		0.448	DISP1-001	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092512.1	NM_032890		4	117	0	0	0	1	0	4	117				
PCDHB12	56124	broad.mit.edu	37	5	140590412	140590412	+	Missense_Mutation	SNP	A	A	G			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr5:140590412A>G	ENST00000239450.2	+	1	2122	c.1933A>G	c.(1933-1935)Aag>Gag	p.K645E	PCDHB12_ENST00000541609.1_Missense_Mutation_p.K308E	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	645	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			GGTGCTGGTCAAGGACAATGG	0.721																																						ENST00000239450.2																			0				NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83						c.(1933-1935)Aag>Gag									10.0	14.0	12.0					5																	140590412		1854	3633	5487	SO:0001583	missense	56124				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140590412A>G	AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"""Cadherins / Protocadherins : Clustered"""	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.1933A>G	5.37:g.140590412A>G	ENSP00000239450:p.Lys645Glu					PCDHB12_ENST00000541609.1_Missense_Mutation_p.K308E	p.K645E	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2122	+			645			Cadherin 6.		B4DDU1	Missense_Mutation	SNP	ENST00000239450.2	37	c.1933A>G	CCDS4254.1	.	.	.	.	.	.	.	.	.	.	A	16.24	3.068275	0.55539	.	.	ENSG00000120328	ENST00000541609;ENST00000239450;ENST00000507840	T;T	0.52295	0.67;0.67	3.77	-0.46	0.12175	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.54464	0.1860	M	0.63428	1.95	0.09310	N	1	P	0.46621	0.881	P	0.56216	0.794	T	0.47935	-0.9078	9	0.72032	D	0.01	.	6.086	0.19968	0.6015:0.3114:0.087:0.0	.	645	Q9Y5F1	PCDBC_HUMAN	E	308;645;265	ENSP00000440199:K308E;ENSP00000239450:K645E	ENSP00000239450:K645E	K	+	1	0	PCDHB12	140570596	0.000000	0.05858	0.214000	0.23707	0.965000	0.64279	-1.556000	0.02168	-0.275000	0.09219	0.392000	0.25879	AAG		0.721	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932		12	63	0	0	0	1	0	12	63				
SETBP1	26040	broad.mit.edu	37	18	42532687	42532687	+	Missense_Mutation	SNP	A	A	G			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr18:42532687A>G	ENST00000282030.5	+	4	3678	c.3382A>G	c.(3382-3384)Atg>Gtg	p.M1128V		NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN	SET binding protein 1	1128						nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104				Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)		CCTTGGTGACATGCAGCCTTC	0.522									Schinzel-Giedion syndrome																													ENST00000282030.5																			0				NS(1)|breast(2)|endometrium(9)|kidney(9)|large_intestine(20)|lung(47)|prostate(4)|skin(4)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	104						c.(3382-3384)Atg>Gtg		SET binding protein 1							110.0	89.0	96.0					18																	42532687		2203	4300	6503	SO:0001583	missense	26040	Schinzel-Giedion syndrome	Familial Cancer Database	SGC, Schinzel-Giedion Midface Retraction syndrome		nucleus	DNA binding	g.chr18:42532687A>G	AB022660	CCDS11923.2, CCDS45859.1	18q21.1	2008-08-01			ENSG00000152217	ENSG00000152217			15573	protein-coding gene	gene with protein product		611060				11231286	Standard	NM_015559		Approved	SEB, KIAA0437	uc010dni.3	Q9Y6X0	OTTHUMG00000132613	ENST00000282030.5:c.3382A>G	18.37:g.42532687A>G	ENSP00000282030:p.Met1128Val						p.M1128V	NM_015559.2	NP_056374.2	Q9Y6X0	SETBP_HUMAN		Colorectal(1;0.0622)|COAD - Colon adenocarcinoma(74;0.201)	4	3678	+			1128					A6H8W5|Q6P6C3|Q9UEF3	Missense_Mutation	SNP	ENST00000282030.5	37	c.3382A>G	CCDS11923.2	.	.	.	.	.	.	.	.	.	.	A	4.895	0.166281	0.09339	.	.	ENSG00000152217	ENST00000282030	T	0.66995	-0.24	5.88	3.35	0.38373	.	0.289185	0.39615	N	0.001307	T	0.41627	0.1167	N	0.24115	0.695	0.22199	N	0.999296	B	0.02656	0.0	B	0.04013	0.001	T	0.21793	-1.0235	10	0.06494	T	0.89	.	4.2198	0.10552	0.6746:0.1316:0.0678:0.1259	.	1128	Q9Y6X0	SETBP_HUMAN	V	1128	ENSP00000282030:M1128V	ENSP00000282030:M1128V	M	+	1	0	SETBP1	40786685	1.000000	0.71417	0.923000	0.36655	0.954000	0.61252	2.228000	0.42981	1.040000	0.40099	0.459000	0.35465	ATG		0.522	SETBP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255854.4	NM_001130110		13	70	0	0	0	1	0	13	70				
TRNAU1AP	54952	broad.mit.edu	37	1	28906819	28906820	+	IGR	INS	-	-	A	rs147786269|rs397936635		TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr1:28906819_28906820insA	ENST00000373830.3	+	0	1793				SNHG12_ENST00000475441.1_RNA|SNHG12_ENST00000531126.1_RNA|SNHG12_ENST00000384584.1_RNA|SNHG12_ENST00000483436.1_RNA|SNHG12_ENST00000488745.1_RNA|SNHG12_ENST00000384581.1_RNA|SNORD99_ENST00000408612.1_RNA|SNHG12_ENST00000384342.1_RNA	NM_017846.4	NP_060316.1	Q9NX07	TSAP1_HUMAN	tRNA selenocysteine 1 associated protein 1						selenocysteine incorporation (GO:0001514)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(1)|endometrium(2)|large_intestine(2)|ovary(1)|pancreas(1)|skin(1)	8						gactccgtctcaaaaaaaaaaa	0.49																																						ENST00000488745.1																			0																																																	SO:0001628	intergenic_variant	85028							g.chr1:28906819_28906820insA		CCDS324.1	1p35.3	2013-02-12	2008-09-05	2008-09-05	ENSG00000180098	ENSG00000180098		"""RNA binding motif (RRM) containing"""	30813	protein-coding gene	gene with protein product			"""tRNA selenocysteine associated protein 1"""	TRSPAP1		10606267, 16230358	Standard	NM_017846		Approved	SECP43, FLJ20503	uc001bqi.3	Q9NX07	OTTHUMG00000003653		1.37:g.28906830_28906830dupA						SNHG12_ENST00000531126.1_RNA|SNHG12_ENST00000475441.1_RNA|SNHG12_ENST00000483436.1_RNA								0	1100	-								Q86SU7	RNA	INS	ENST00000373830.3	37		CCDS324.1																																																																																				0.490	TRNAU1AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010346.1	NM_017846		5	4						5	4	---	---	---	---
RTN4	57142	broad.mit.edu	37	2	55253745	55253746	+	Frame_Shift_Ins	INS	-	-	T			TCGA-QR-A700-01A-11D-A35D-08	TCGA-QR-A700-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	97ae6efc-45fd-4d4a-8f1e-c43d5ee60fde	648ded19-dc19-4eb6-9a4a-42c8617ec35a	g.chr2:55253745_55253746insT	ENST00000337526.6	-	3	1732_1733	c.1489_1490insA	c.(1489-1491)atafs	p.I497fs	RTN4_ENST00000404909.1_Frame_Shift_Ins_p.I291fs|RTN4_ENST00000354474.6_Frame_Shift_Ins_p.I265fs|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000317610.7_Intron|RTN4_ENST00000357376.3_Frame_Shift_Ins_p.I291fs|RTN4_ENST00000357732.4_Intron|RTN4_ENST00000405240.1_Frame_Shift_Ins_p.I291fs|RTN4_ENST00000394611.2_Frame_Shift_Ins_p.I291fs	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN	reticulon 4	497					angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonal fasciculation (GO:0007413)|cardiac epithelial to mesenchymal transition (GO:0060317)|cerebral cortex radial glia guided migration (GO:0021801)|endoplasmic reticulum tubular network organization (GO:0071786)|negative regulation of axon extension (GO:0030517)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell growth (GO:0030308)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of apoptotic process (GO:0042981)|regulation of axonogenesis (GO:0050770)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of cell migration (GO:0030334)	cell projection (GO:0042995)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of endoplasmic reticulum membrane (GO:0030176)|intracellular (GO:0005622)|neuronal cell body (GO:0043025)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	poly(A) RNA binding (GO:0044822)			NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						CTTTTCTTCTATTTTTTTTTCA	0.381																																						ENST00000337526.6																			0				NS(2)|breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(11)|lung(9)|ovary(2)|prostate(1)|skin(1)|stomach(1)	36						c.(1489-1491)agafs		reticulon 4																																				SO:0001589	frameshift_variant	57142				apoptosis|axonal fasciculation|cerebral cortex radial glia guided migration|endoplasmic reticulum tubular network organization|negative regulation of anti-apoptosis|negative regulation of axon extension|nerve growth factor receptor signaling pathway|regulation of apoptosis|regulation of branching morphogenesis of a nerve|regulation of cell migration	integral to endoplasmic reticulum membrane|nuclear envelope|plasma membrane	protein binding	g.chr2:55253745_55253746insT	AF087901	CCDS1851.1, CCDS1852.1, CCDS42683.1, CCDS42684.1, CCDS42685.1	2p14-p13	2008-05-23			ENSG00000115310	ENSG00000115310			14085	protein-coding gene	gene with protein product		604475				10667797, 10773680	Standard	NM_020532		Approved	NSP-CL, KIAA0886, NOGO, ASY	uc002rye.3	Q9NQC3	OTTHUMG00000129337	ENST00000337526.6:c.1490dupA	2.37:g.55253754_55253754dupT	ENSP00000337838:p.Ile497fs					RTN4_ENST00000357732.4_Intron|RTN4_ENST00000404909.1_Frame_Shift_Ins_p.R291fs|RTN4_ENST00000405240.1_Frame_Shift_Ins_p.R291fs|RTN4_ENST00000402434.2_Intron|RTN4_ENST00000394611.2_Frame_Shift_Ins_p.R291fs|RTN4_ENST00000357376.3_Frame_Shift_Ins_p.R291fs|RTN4_ENST00000354474.6_Frame_Shift_Ins_p.R265fs|RTN4_ENST00000317610.7_Intron	p.R497fs	NM_020532.4	NP_065393.1	Q9NQC3	RTN4_HUMAN			3	1732_1733	-			497					O94962|Q7L7Q5|Q7L7Q6|Q7L7Q8|Q8IUA4|Q96B16|Q9BXG5|Q9H212|Q9H3I3|Q9UQ42|Q9Y293|Q9Y2Y7|Q9Y5U6	Frame_Shift_Ins	INS	ENST00000337526.6	37	c.1489_1490insA	CCDS42684.1																																																																																				0.381	RTN4-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000251484.1			7	82						7	82	---	---	---	---
