#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	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
IPO7	10527	broad.mit.edu	37	11	9466668	9466668	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr11:9466668G>C	ENST00000379719.3	+	25	3186	c.3044G>C	c.(3043-3045)gGa>gCa	p.G1015A		NM_006391.2	NP_006382.1	O95373	IPO7_HUMAN	importin 7	1015					innate immune response (GO:0045087)|protein import into nucleus (GO:0006606)|regulation of catalytic activity (GO:0050790)|signal transduction (GO:0007165)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)|small GTPase regulator activity (GO:0005083)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(3)|kidney(3)|large_intestine(6)|lung(12)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	29				all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)		GAGAAGCATGGAGGATACAAA	0.378																																						uc001mho.2		NA																	0				lung(1)|breast(1)	2						c.(3043-3045)GGA>GCA		importin 7							72.0	73.0	73.0					11																	9466668		2201	4294	6495	SO:0001583	missense	10527				interspecies interaction between organisms|signal transduction	Golgi apparatus|nuclear pore|soluble fraction	protein transporter activity|Ran GTPase binding|small GTPase regulator activity	g.chr11:9466668G>C	AF098799	CCDS31425.1	11p15.3	2010-12-02	2003-03-11	2003-03-14	ENSG00000205339	ENSG00000205339		"""Importins"""	9852	protein-coding gene	gene with protein product		605586	"""RAN binding protein 7"""	RANBP7		9214382	Standard	NM_006391		Approved	Imp7	uc001mho.3	O95373	OTTHUMG00000165753	ENST00000379719.3:c.3044G>C	11.37:g.9466668G>C	ENSP00000369042:p.Gly1015Ala						p.G1015A	NM_006391	NP_006382	O95373	IPO7_HUMAN		all cancers(16;8.29e-09)|Epithelial(150;4.76e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0217)	25	3186	+			1015					A6NNM5|B2R786|Q1RMF7|Q9H177|Q9NTE3	Missense_Mutation	SNP	ENST00000379719.3	37	c.3044G>C	CCDS31425.1	.	.	.	.	.	.	.	.	.	.	G	15.34	2.804205	0.50315	.	.	ENSG00000205339	ENST00000379719	T	0.30714	1.52	5.66	5.66	0.87406	.	0.000000	0.85682	D	0.000000	T	0.41696	0.1170	M	0.77313	2.365	0.80722	D	1	P	0.45011	0.848	B	0.40702	0.338	T	0.45760	-0.9239	10	0.51188	T	0.08	.	19.7394	0.96219	0.0:0.0:1.0:0.0	.	1015	O95373	IPO7_HUMAN	A	1015	ENSP00000369042:G1015A	ENSP00000369042:G1015A	G	+	2	0	IPO7	9423244	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	9.869000	0.99810	2.649000	0.89929	0.563000	0.77884	GGA		0.378	IPO7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386022.1	NM_006391		11	135	0	0	0	0	11	135				
CKAP5	9793	broad.mit.edu	37	11	46810308	46810308	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr11:46810308C>T	ENST00000529230.1	-	16	1937	c.1891G>A	c.(1891-1893)Gac>Aac	p.D631N	CKAP5_ENST00000312055.5_Missense_Mutation_p.D631N|CKAP5_ENST00000354558.3_Missense_Mutation_p.D631N|CKAP5_ENST00000415402.1_Missense_Mutation_p.D631N			Q14008	CKAP5_HUMAN	cytoskeleton associated protein 5	631					centrosome organization (GO:0051297)|establishment or maintenance of microtubule cytoskeleton polarity (GO:0030951)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|RNA transport (GO:0050658)|spindle organization (GO:0007051)	centrosome (GO:0005813)|cytosol (GO:0005829)|membrane (GO:0016020)|protein complex (GO:0043234)|spindle pole (GO:0000922)				breast(1)|cervix(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(13)|ovary(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	43						TCAGTTCGGTCCATTAGCTCA	0.368																																					Ovarian(4;85 273 2202 4844 13323)	uc001ndi.1		NA																	0				ovary(1)|skin(1)	2						c.(1891-1893)GAC>AAC		colonic and hepatic tumor over-expressed protein							93.0	91.0	92.0					11																	46810308		2201	4299	6500	SO:0001583	missense	9793				cell division|centrosome organization|establishment or maintenance of microtubule cytoskeleton polarity|G2/M transition of mitotic cell cycle|mitotic prometaphase|RNA transport|spindle organization	centrosome|cytosol	protein binding|protein binding	g.chr11:46810308C>T		CCDS7924.1, CCDS31477.1	11p11.2	2006-09-20			ENSG00000175216	ENSG00000175216			28959	protein-coding gene	gene with protein product		611142				7788527, 8536682	Standard	NM_014756		Approved	ch-TOG, KIAA0097, TOG, TOGp	uc001ndi.2	Q14008	OTTHUMG00000166599	ENST00000529230.1:c.1891G>A	11.37:g.46810308C>T	ENSP00000432768:p.Asp631Asn					CKAP5_uc009ylg.1_Missense_Mutation_p.D517N|CKAP5_uc001ndj.1_Missense_Mutation_p.D631N	p.D631N	NM_001008938	NP_001008938	Q14008	CKAP5_HUMAN			16	2001	-			631					Q05D70|Q0VAX7|Q0VAX8|Q14668|Q2TA89|Q6NSH4	Missense_Mutation	SNP	ENST00000529230.1	37	c.1891G>A	CCDS31477.1	.	.	.	.	.	.	.	.	.	.	C	21.9	4.210396	0.79240	.	.	ENSG00000175216	ENST00000529230;ENST00000415402;ENST00000312055;ENST00000354558	T;T;T;T	0.68181	-0.31;-0.31;-0.31;-0.31	5.41	5.41	0.78517	Armadillo-like helical (1);Armadillo-type fold (1);	0.182532	0.56097	D	0.000022	T	0.62853	0.2462	L	0.46819	1.47	0.80722	D	1	P;B;B	0.42620	0.785;0.241;0.155	B;B;B	0.40477	0.33;0.196;0.096	T	0.60362	-0.7278	10	0.23891	T	0.37	-8.3928	19.203	0.93719	0.0:1.0:0.0:0.0	.	631;631;631	Q14008-3;Q14008-2;Q14008	.;.;CKAP5_HUMAN	N	631	ENSP00000432768:D631N;ENSP00000395302:D631N;ENSP00000310227:D631N;ENSP00000346566:D631N	ENSP00000310227:D631N	D	-	1	0	CKAP5	46766884	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.786000	0.85741	2.538000	0.85594	0.655000	0.94253	GAC		0.368	CKAP5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390679.1	NM_014756		41	75	0	0	0	0	41	75				
USP35	57558	broad.mit.edu	37	11	77921098	77921098	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr11:77921098G>A	ENST00000529308.1	+	10	2458	c.2197G>A	c.(2197-2199)Gaa>Aaa	p.E733K	USP35_ENST00000526425.1_Missense_Mutation_p.E464K|USP35_ENST00000441408.2_Missense_Mutation_p.E319K|USP35_ENST00000530535.1_3'UTR|USP35_ENST00000530267.1_Missense_Mutation_p.E301K	NM_020798.2	NP_065849.1	Q9P2H5	UBP35_HUMAN	ubiquitin specific peptidase 35	733	USP.				protein deubiquitination (GO:0016579)|ubiquitin-dependent protein catabolic process (GO:0006511)		ubiquitin-specific protease activity (GO:0004843)			endometrium(6)|kidney(1)|large_intestine(2)|lung(8)|ovary(2)|prostate(3)|urinary_tract(1)	23	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)			ggaaaaggaagaagaCAGCCT	0.607																																						uc009yva.1		NA																	0				lung(2)|ovary(1)	3						c.(2197-2199)GAA>AAA		ubiquitin specific protease 35							72.0	94.0	87.0					11																	77921098		2067	4206	6273	SO:0001583	missense	57558				ubiquitin-dependent protein catabolic process		binding|cysteine-type peptidase activity|ubiquitin thiolesterase activity	g.chr11:77921098G>A	AB037793	CCDS41693.1	11q13.4	2008-02-05	2005-08-08			ENSG00000118369		"""Ubiquitin-specific peptidases"""	20061	protein-coding gene	gene with protein product			"""ubiquitin specific protease 35"""			12838346	Standard	NM_020798		Approved	KIAA1372	uc021qny.1	Q9P2H5		ENST00000529308.1:c.2197G>A	11.37:g.77921098G>A	ENSP00000431876:p.Glu733Lys					USP35_uc001oze.2_Missense_Mutation_p.E489K|USP35_uc001ozc.2_Missense_Mutation_p.E301K|USP35_uc010rsp.1_Missense_Mutation_p.E165K|USP35_uc001ozd.2_Missense_Mutation_p.E344K|USP35_uc001ozf.2_Missense_Mutation_p.E464K	p.E733K	NM_020798	NP_065849	Q9P2H5	UBP35_HUMAN	OV - Ovarian serous cystadenocarcinoma(8;1.04e-25)		10	2443	+	all_cancers(14;3.77e-18)|all_epithelial(13;6.16e-21)|Breast(9;5.6e-16)|Ovarian(111;0.152)		733						Missense_Mutation	SNP	ENST00000529308.1	37	c.2197G>A	CCDS41693.1	.	.	.	.	.	.	.	.	.	.	G	2.637	-0.284932	0.05605	.	.	ENSG00000118369	ENST00000530267;ENST00000529308;ENST00000441408;ENST00000526425	T;T;T;T	0.07216	3.21;3.25;3.25;3.36	4.57	2.7	0.31948	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	1.653660	0.03382	N	0.200534	T	0.03651	0.0104	N	0.05306	-0.075	0.09310	N	1	B;P	0.34587	0.085;0.458	B;B	0.29176	0.092;0.099	T	0.31530	-0.9940	10	0.05959	T	0.93	-0.5872	5.6626	0.17676	0.0996:0.0:0.7072:0.1932	.	733;319	Q9P2H5;E7EWV7	UBP35_HUMAN;.	K	301;733;319;464	ENSP00000435468:E301K;ENSP00000431876:E733K;ENSP00000400825:E319K;ENSP00000434942:E464K	ENSP00000400825:E319K	E	+	1	0	USP35	77598746	0.012000	0.17670	0.001000	0.08648	0.017000	0.09413	1.942000	0.40243	0.563000	0.29222	-0.169000	0.13324	GAA		0.607	USP35-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000390026.1	XM_290527		30	60	0	0	0	0	30	60				
GALNT6	11226	broad.mit.edu	37	12	51751183	51751183	+	Missense_Mutation	SNP	C	C	T	rs142431103		TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr12:51751183C>T	ENST00000543196.2	-	9	1757	c.1552G>A	c.(1552-1554)Ggg>Agg	p.G518R	GALNT6_ENST00000356317.3_Missense_Mutation_p.G518R			Q8NCL4	GALT6_HUMAN	polypeptide N-acetylgalactosaminyltransferase 6	518	Ricin B-type lectin. {ECO:0000255|PROSITE-ProRule:PRU00174}.				cellular protein metabolic process (GO:0044267)|O-glycan processing (GO:0016266)|post-translational protein modification (GO:0043687)|protein O-linked glycosylation (GO:0006493)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)	carbohydrate binding (GO:0030246)|metal ion binding (GO:0046872)|polypeptide N-acetylgalactosaminyltransferase activity (GO:0004653)			endometrium(2)|large_intestine(6)|lung(7)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(1)	27						GGCTTCCCCCCGCGGTTGTTC	0.612																																						uc001ryk.2		NA																	0				ovary(2)	2						c.(1552-1554)GGG>AGG		polypeptide N-acetylgalactosaminyltransferase 6		C	ARG/GLY	0,4406		0,0,2203	102.0	86.0	91.0		1552	3.5	0.4	12	dbSNP_134	91	1,8599	1.2+/-3.3	0,1,4299	no	missense	GALNT6	NM_007210.3	125	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	518/623	51751183	1,13005	2203	4300	6503	SO:0001583	missense	11226				protein O-linked glycosylation	Golgi membrane|integral to membrane|perinuclear region of cytoplasm	polypeptide N-acetylgalactosaminyltransferase activity|sugar binding	g.chr12:51751183C>T	Y08565	CCDS8813.1	12q13	2014-03-13	2014-03-13		ENSG00000139629	ENSG00000139629		"""Glycosyltransferase family 2 domain containing"""	4128	protein-coding gene	gene with protein product	"""polypeptide GalNAc transferase 6"""	605148	"""UDP-N-acetyl-alpha-D-galactosamine:polypeptide N-acetylgalactosaminyltransferase 6 (GalNAc-T6)"""			10464263	Standard	NM_007210		Approved	GalNAc-T6	uc001ryl.1	Q8NCL4		ENST00000543196.2:c.1552G>A	12.37:g.51751183C>T	ENSP00000444171:p.Gly518Arg					GALNT6_uc009zma.1_RNA|GALNT6_uc001ryl.1_Missense_Mutation_p.G518R|GALNT6_uc001ryj.1_Missense_Mutation_p.G83R	p.G518R	NM_007210	NP_009141	Q8NCL4	GALT6_HUMAN			9	1777	-			518			Ricin B-type lectin.|Lumenal (Potential).		Q8IYH4|Q9H6G2|Q9UIV5	Missense_Mutation	SNP	ENST00000543196.2	37	c.1552G>A	CCDS8813.1	.	.	.	.	.	.	.	.	.	.	C	15.70	2.912399	0.52439	0.0	1.16E-4	ENSG00000139629	ENST00000543196;ENST00000356317;ENST00000546163	T;T	0.26957	1.7;1.7	3.54	3.54	0.40534	Ricin B-related lectin (1);Ricin B lectin (3);	0.000000	0.85682	D	0.000000	T	0.44623	0.1302	M	0.64676	1.99	0.54753	D	0.999984	D	0.89917	1.0	D	0.83275	0.996	T	0.26503	-1.0101	10	0.17369	T	0.5	.	15.091	0.72195	0.0:1.0:0.0:0.0	.	518	Q8NCL4	GALT6_HUMAN	R	518;518;499	ENSP00000444171:G518R;ENSP00000348668:G518R	ENSP00000348668:G518R	G	-	1	0	GALNT6	50037450	1.000000	0.71417	0.450000	0.26969	0.870000	0.49936	7.609000	0.82925	2.280000	0.76307	0.561000	0.74099	GGG		0.612	GALNT6-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469735.1	NM_007210		21	57	0	0	0	0	21	57				
STAB2	55576	broad.mit.edu	37	12	104107482	104107482	+	Silent	SNP	C	C	A			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr12:104107482C>A	ENST00000388887.2	+	42	4677	c.4473C>A	c.(4471-4473)acC>acA	p.T1491T		NM_017564.9	NP_060034.9			stabilin 2											NS(4)|breast(7)|central_nervous_system(1)|cervix(1)|endometrium(15)|kidney(11)|large_intestine(26)|lung(77)|ovary(10)|pancreas(1)|prostate(5)|skin(14)|stomach(2)	174						GTAAGAGAACCACCCCAGGAA	0.542																																						uc001tjw.2		NA																	0				ovary(9)|skin(5)	14						c.(4471-4473)ACC>ACA		stabilin 2 precursor							278.0	252.0	261.0					12																	104107482		2203	4300	6503	SO:0001819	synonymous_variant	55576				angiogenesis|cell adhesion|defense response to bacterium|receptor-mediated endocytosis	cytoplasm|external side of plasma membrane|integral to plasma membrane	Gram-negative bacterial cell surface binding|hyaluronic acid binding|low-density lipoprotein receptor activity|protein disulfide oxidoreductase activity|scavenger receptor activity	g.chr12:104107482C>A	AF160476	CCDS31888.1	12q23.3	2007-01-29				ENSG00000136011			18629	protein-coding gene	gene with protein product	"""hyaluronic acid receptor for endocytosis"""	608561				11829752, 12077138	Standard	XR_429107		Approved	DKFZP434E0321, FELL, STAB-2, HARE, FEEL-2	uc001tjw.3	Q8WWQ8	OTTHUMG00000170056	ENST00000388887.2:c.4473C>A	12.37:g.104107482C>A						STAB2_uc009zug.2_RNA	p.T1491T	NM_017564	NP_060034	Q8WWQ8	STAB2_HUMAN			42	4659	+			1491			Extracellular (Potential).|EGF-like 12.			Silent	SNP	ENST00000388887.2	37	c.4473C>A	CCDS31888.1																																																																																				0.542	STAB2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000407089.1			100	273	1	0	8.45e-40	9.6e-40	100	273				
CIT	11113	broad.mit.edu	37	12	120148383	120148383	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr12:120148383G>T	ENST00000261833.7	-	37	4823	c.4771C>A	c.(4771-4773)Cgt>Agt	p.R1591S	CIT_ENST00000537607.1_5'UTR|CIT_ENST00000392521.2_Missense_Mutation_p.R1633S	NM_007174.2	NP_009105.1	O14578	CTRO_HUMAN	citron rho-interacting serine/threonine kinase	1591	CNH. {ECO:0000255|PROSITE- ProRule:PRU00795}.				cytokinesis (GO:0000910)|dendrite development (GO:0016358)|G2/M transition of mitotic cell cycle (GO:0000086)|generation of neurons (GO:0048699)|Golgi organization (GO:0007030)|intracellular signal transduction (GO:0035556)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic nuclear division (GO:0007067)|mitotic sister chromatid segregation (GO:0000070)|negative regulation of dendrite morphogenesis (GO:0050774)|regulation of actin polymerization or depolymerization (GO:0008064)|spermatogenesis (GO:0007283)	actin cytoskeleton (GO:0015629)|Golgi cisterna (GO:0031985)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|ruffle (GO:0001726)|vacuole (GO:0005773)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|protein serine/threonine kinase activity (GO:0004674)|small GTPase regulator activity (GO:0005083)			breast(6)|endometrium(9)|kidney(4)|large_intestine(15)|liver(1)|lung(29)|ovary(7)|prostate(4)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(6)	86	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)		BRCA - Breast invasive adenocarcinoma(302;0.211)		ATGTCTAGACGGTCATCACCT	0.483																																						uc001txi.1		NA																	0				ovary(6)|urinary_tract(1)|lung(1)|breast(1)|skin(1)	10						c.(4771-4773)CGT>AGT		citron							184.0	163.0	170.0					12																	120148383		2203	4300	6503	SO:0001583	missense	11113				intracellular signal transduction		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding|small GTPase regulator activity	g.chr12:120148383G>T	AB023166	CCDS9192.1, CCDS55891.1	12q24.23	2014-04-23	2014-04-23		ENSG00000122966	ENSG00000122966			1985	protein-coding gene	gene with protein product	"""serine/threonine kinase 21"""	605629	"""citron (rho-interacting, serine/threonine kinase 21)"""			9792683	Standard	NM_001206999		Approved	KIAA0949, STK21, CRIK	uc001txj.2	O14578	OTTHUMG00000134325	ENST00000261833.7:c.4771C>A	12.37:g.120148383G>T	ENSP00000261833:p.Arg1591Ser					CIT_uc001txh.1_Missense_Mutation_p.R1110S|CIT_uc001txj.1_Missense_Mutation_p.R1633S	p.R1591S	NM_007174	NP_009105	O14578	CTRO_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.211)	37	4824	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)	Myeloproliferative disorder(1001;0.0255)	1591			CNH.		Q2M5E1|Q6XUH8|Q86UQ9|Q9UPZ7	Missense_Mutation	SNP	ENST00000261833.7	37	c.4771C>A	CCDS9192.1	.	.	.	.	.	.	.	.	.	.	G	24.1	4.498646	0.85069	.	.	ENSG00000122966	ENST00000392521;ENST00000261833	T;T	0.66280	-0.17;-0.2	6.17	6.17	0.99709	Citron-like (1);	0.000000	0.85682	D	0.000000	T	0.77545	0.4146	L	0.54323	1.7	0.58432	D	0.999999	D;D;P	0.69078	0.997;0.997;0.943	D;D;B	0.76071	0.987;0.987;0.415	T	0.74731	-0.3566	10	0.51188	T	0.08	.	20.8794	0.99867	0.0:0.0:1.0:0.0	.	1633;1591;1109	Q2M5E1;O14578;O14578-3	.;CTRO_HUMAN;.	S	1633;1591	ENSP00000376306:R1633S;ENSP00000261833:R1591S	ENSP00000261833:R1591S	R	-	1	0	CIT	118632766	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.176000	0.65026	2.941000	0.99782	0.655000	0.94253	CGT		0.483	CIT-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000259410.4	NM_007174		46	118	1	0	1.23e-26	1.36e-26	46	118				
FNDC3A	22862	broad.mit.edu	37	13	49772367	49772367	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr13:49772367A>G	ENST00000492622.2	+	22	3045	c.2740A>G	c.(2740-2742)Att>Gtt	p.I914V	FNDC3A_ENST00000398316.3_Missense_Mutation_p.I858V|FNDC3A_ENST00000541916.1_Missense_Mutation_p.I914V	NM_001079673.1	NP_001073141.1	Q9Y2H6	FND3A_HUMAN	fibronectin type III domain containing 3A	914	Fibronectin type-III 7. {ECO:0000255|PROSITE-ProRule:PRU00316}.				fertilization (GO:0009566)|Sertoli cell development (GO:0060009)|single organismal cell-cell adhesion (GO:0016337)|spermatid development (GO:0007286)	acrosomal vesicle (GO:0001669)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|vesicle membrane (GO:0012506)	poly(A) RNA binding (GO:0044822)			endometrium(5)|kidney(3)|large_intestine(10)|lung(15)|prostate(5)|skin(2)|urinary_tract(1)	41		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)		TACAAGCTATATTATCAACAA	0.363																																						uc001vcm.2		NA																	0				lung(2)	2						c.(2740-2742)ATT>GTT		fibronectin type III domain containing 3A							95.0	96.0	96.0					13																	49772367		2203	4300	6503	SO:0001583	missense	22862					Golgi membrane|integral to membrane		g.chr13:49772367A>G	AB023187	CCDS9413.2, CCDS41886.1	13q14.12	2013-02-11	2005-01-20	2005-01-22	ENSG00000102531	ENSG00000102531		"""Fibronectin type III domain containing"""	20296	protein-coding gene	gene with protein product		615794	"""fibronectin type III domain containing 3"""	FNDC3			Standard	NM_001079673		Approved	bA203I16.5, KIAA0970	uc001vcm.3	Q9Y2H6	OTTHUMG00000016911	ENST00000492622.2:c.2740A>G	13.37:g.49772367A>G	ENSP00000417257:p.Ile914Val					FNDC3A_uc001vcn.2_Missense_Mutation_p.I914V|FNDC3A_uc001vco.2_RNA|FNDC3A_uc001vcq.2_Missense_Mutation_p.I858V	p.I914V	NM_001079673	NP_001073141	Q9Y2H6	FND3A_HUMAN	KIRC - Kidney renal clear cell carcinoma(9;0.206)	GBM - Glioblastoma multiforme(99;2.94e-09)	22	3045	+		all_lung(13;7.44e-08)|Lung NSC(96;4.08e-06)|Breast(56;0.000111)|Prostate(109;0.00174)|Myeloproliferative disorder(33;0.0179)|Hepatocellular(98;0.0207)|Lung SC(185;0.187)|all_neural(104;0.19)	914			Fibronectin type-III 7.		B4DYG1|Q5HYC9|Q5JVF8|Q5JVF9|Q6EVH3|Q6EVH4|Q6N020|Q6P9D5|Q6ZME4|Q9H1W1	Missense_Mutation	SNP	ENST00000492622.2	37	c.2740A>G	CCDS41886.1	.	.	.	.	.	.	.	.	.	.	A	0.089	-1.170602	0.01660	.	.	ENSG00000102531	ENST00000492622;ENST00000337156;ENST00000541916;ENST00000398316	T;T;T	0.56444	0.46;0.46;0.46	5.88	-2.38	0.06622	Fibronectin, type III (4);Immunoglobulin-like fold (1);	0.680073	0.14225	N	0.333148	T	0.25644	0.0624	N	0.16743	0.435	0.38270	D	0.942131	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.001	T	0.40646	-0.9552	10	0.02654	T	1	-3.2673	7.9097	0.29782	0.4018:0.0:0.4766:0.1216	.	858;914	Q9Y2H6-2;Q9Y2H6	.;FND3A_HUMAN	V	914;850;914;858	ENSP00000417257:I914V;ENSP00000441831:I914V;ENSP00000381362:I858V	ENSP00000338579:I850V	I	+	1	0	FNDC3A	48670368	0.500000	0.26091	0.363000	0.25875	0.995000	0.86356	-0.170000	0.09897	-0.329000	0.08527	0.528000	0.53228	ATT		0.363	FNDC3A-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354845.2	NM_014923		58	102	0	0	0	0	58	102				
DLST	1743	broad.mit.edu	37	14	75361079	75361079	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr14:75361079C>T	ENST00000334220.4	+	10	798	c.737C>T	c.(736-738)gCa>gTa	p.A246V	DLST_ENST00000555190.1_3'UTR|DLST_ENST00000334212.6_Missense_Mutation_p.A160V	NM_001933.4	NP_001924.2	P36957	ODO2_HUMAN	dihydrolipoamide S-succinyltransferase (E2 component of 2-oxo-glutarate complex)	246					cellular metabolic process (GO:0044237)|cellular nitrogen compound metabolic process (GO:0034641)|generation of precursor metabolites and energy (GO:0006091)|L-lysine catabolic process to acetyl-CoA via saccharopine (GO:0033512)|lysine catabolic process (GO:0006554)|small molecule metabolic process (GO:0044281)|tricarboxylic acid cycle (GO:0006099)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial matrix (GO:0005759)|nucleus (GO:0005634)|oxoglutarate dehydrogenase complex (GO:0045252)	dihydrolipoyllysine-residue succinyltransferase activity (GO:0004149)			breast(1)|endometrium(5)|kidney(2)|large_intestine(2)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	18				BRCA - Breast invasive adenocarcinoma(234;0.00698)		AATACATGTGCAATGCTGACA	0.468																																						uc001xqv.2		NA																	0				ovary(1)	1						c.(736-738)GCA>GTA		dihydrolipoamide S-succinyltransferase (E2							198.0	176.0	183.0					14																	75361079		2203	4300	6503	SO:0001583	missense	1743				lysine catabolic process|tricarboxylic acid cycle	mitochondrial matrix|nucleus	dihydrolipoyllysine-residue succinyltransferase activity	g.chr14:75361079C>T		CCDS9833.1	14q23.1	2008-08-11			ENSG00000119689	ENSG00000119689	2.3.1.61		2911	protein-coding gene	gene with protein product		126063		DLTS		8009371	Standard	NM_001933		Approved		uc001xqv.2	P36957		ENST00000334220.4:c.737C>T	14.37:g.75361079C>T	ENSP00000335304:p.Ala246Val					DLST_uc001xqu.2_Missense_Mutation_p.A158V|DLST_uc001xqt.2_Missense_Mutation_p.A162V|DLST_uc010tuw.1_Missense_Mutation_p.A160V|DLST_uc001xqs.2_RNA|DLST_uc010tuv.1_Missense_Mutation_p.A246V	p.A246V	NM_001933	NP_001924	P36957	ODO2_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.00698)	10	800	+			246					B7Z5W8|E7ESY5|Q7LDY7|Q9BQ32	Missense_Mutation	SNP	ENST00000334220.4	37	c.737C>T	CCDS9833.1	.	.	.	.	.	.	.	.	.	.	C	29.4	5.006219	0.93287	.	.	ENSG00000119689	ENST00000334220;ENST00000334212;ENST00000554806	T;T;T	0.47869	0.83;0.83;0.83	5.79	5.79	0.91817	2-oxoacid dehydrogenase acyltransferase, catalytic domain (1);Chloramphenicol acetyltransferase-like domain (1);	0.000000	0.85682	D	0.000000	T	0.64461	0.2600	M	0.78801	2.425	0.80722	D	1	P;B;B;P;D	0.61080	0.705;0.253;0.253;0.948;0.989	B;B;B;B;P	0.51945	0.252;0.112;0.112;0.429;0.685	T	0.68780	-0.5318	10	0.87932	D	0	-16.2834	20.0498	0.97621	0.0:1.0:0.0:0.0	.	160;246;246;158;162	B7Z5W8;Q6IBS5;P36957;Q86TQ8;Q86TW7	.;.;ODO2_HUMAN;.;.	V	246;160;229	ENSP00000335304:A246V;ENSP00000335465:A160V;ENSP00000451957:A229V	ENSP00000238671:A229V	A	+	2	0	DLST	74430832	1.000000	0.71417	0.999000	0.59377	0.996000	0.88848	7.487000	0.81328	2.753000	0.94483	0.557000	0.71058	GCA		0.468	DLST-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413637.1			79	65	0	0	0	0	79	65				
APBA2	321	broad.mit.edu	37	15	29346705	29346705	+	Silent	SNP	C	C	T	rs111870710	byFrequency	TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr15:29346705C>T	ENST00000558402.1	+	5	1217	c.618C>T	c.(616-618)ggC>ggT	p.G206G	APBA2_ENST00000561069.1_Silent_p.G206G|APBA2_ENST00000558259.1_Silent_p.G206G|APBA2_ENST00000411764.1_Silent_p.G206G|APBA2_ENST00000558330.1_Silent_p.G206G			Q99767	APBA2_HUMAN	amyloid beta (A4) precursor protein-binding, family A, member 2	206	STXBP1-binding.			DEPSVLEAHDQEEDGHYCASKEGYQDYYPEEANGNTGASPY RLRR -> MSPPSLRPMTRKKMVTMCQQRGLPGLLPRGGQR EHRRLPLPPEA (in Ref. 1; AAC39767). {ECO:0000305}.	in utero embryonic development (GO:0001701)|locomotory behavior (GO:0007626)|multicellular organism growth (GO:0035264)|nervous system development (GO:0007399)|protein transport (GO:0015031)|regulation of gene expression (GO:0010468)|synaptic transmission (GO:0007268)	plasma membrane (GO:0005886)	beta-amyloid binding (GO:0001540)	p.G206G(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(7)|liver(2)|lung(33)|stomach(1)|urinary_tract(1)	59		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)		GGAACACCGGCGCCTCCCCCT	0.607													c|||	21	0.00419329	0.0151	0.0014	5008	,	,		19798	0.0		0.0	False		,,,				2504	0.0					uc001zck.2		NA																	1	Substitution - coding silent(1)		large_intestine(1)		0						c.(616-618)GGC>GGT		amyloid beta A4 precursor protein-binding,		T	,	54,4350	53.6+/-89.4	0,54,2148	47.0	36.0	40.0		618,618	-4.0	0.0	15	dbSNP_132	40	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	APBA2	NM_001130414.1,NM_005503.3	,	0,54,6448	TT,TC,CC		0.0,1.2262,0.4153	,	206/738,206/750	29346705	54,12950	2202	4300	6502	SO:0001819	synonymous_variant	321				nervous system development|protein transport		protein binding	g.chr15:29346705C>T	AB014719	CCDS10022.1, CCDS45197.1	15q11-q12	2008-07-18	2008-07-18		ENSG00000034053	ENSG00000034053			579	protein-coding gene	gene with protein product		602712	"""X11-like"", ""amyloid beta (A4) precursor protein-binding, family A, member 2 (X11-like)"""	X11L, MINT2		8955346	Standard	NM_005503		Approved	D15S1518E, LIN-10, MGC:14091, HsT16821	uc001zck.3	Q99767	OTTHUMG00000129255	ENST00000558402.1:c.618C>T	15.37:g.29346705C>T						APBA2_uc010azj.2_Silent_p.G206G|APBA2_uc010uat.1_Silent_p.G206G|APBA2_uc001zcl.2_Silent_p.G206G|APBA2_uc010uas.1_Silent_p.G206G	p.G206G	NM_005503	NP_005494	Q99767	APBA2_HUMAN		all cancers(64;7.44e-11)|Epithelial(43;5.74e-10)|GBM - Glioblastoma multiforme(186;0.026)|BRCA - Breast invasive adenocarcinoma(123;0.0286)|Lung(196;0.24)	3	825	+		all_lung(180;1.73e-12)|Breast(32;2.89e-05)|Colorectal(260;0.234)	206	DEPSVLEAHDQEEDGHYCASKEGYQDYYPEEANGNTGASPY RLRR -> MSPPSLRPMTRKKMVTMCQQRGLPGLLPRGGQR EHRRLPLPPEA (in Ref. 1; AAC39767).		STXBP1-binding.		E9PGI4|O60571|Q5XKC0	Silent	SNP	ENST00000558402.1	37	c.618C>T	CCDS10022.1																																																																																				0.607	APBA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251362.3	NM_005503		17	26	0	0	0	0	17	26				
CLN6	54982	broad.mit.edu	37	15	68504043	68504043	+	Silent	SNP	G	G	A			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr15:68504043G>A	ENST00000249806.5	-	4	613	c.456C>T	c.(454-456)ccC>ccT	p.P152P	CLN6_ENST00000538696.1_Silent_p.P184P|CLN6_ENST00000418702.2_Intron|CLN6_ENST00000564752.1_Silent_p.P152P|CLN6_ENST00000565471.1_Intron|CLN6_ENST00000566347.1_Intron|RP11-315D16.2_ENST00000562767.1_Intron	NM_017882.2	NP_060352.1	Q9NWW5	CLN6_HUMAN	ceroid-lipofuscinosis, neuronal 6, late infantile, variant	152					cell death (GO:0008219)|cellular macromolecule catabolic process (GO:0044265)|cholesterol metabolic process (GO:0008203)|ganglioside metabolic process (GO:0001573)|glycosaminoglycan metabolic process (GO:0030203)|locomotion involved in locomotory behavior (GO:0031987)|lysosomal lumen acidification (GO:0007042)|positive regulation of proteolysis (GO:0045862)|protein catabolic process (GO:0030163)|visual perception (GO:0007601)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	protein homodimerization activity (GO:0042803)			large_intestine(1)|lung(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	7						TCTTGATGATGGGGTTCTCAC	0.582																																						uc002arf.2		NA																	0					0						c.(454-456)CCC>CCT		CLN6 protein							137.0	137.0	137.0					15																	68504043		2200	4298	6498	SO:0001819	synonymous_variant	54982				cell death|cholesterol metabolic process|ganglioside metabolic process|glycosaminoglycan metabolic process|lysosomal lumen acidification|positive regulation of proteolysis|protein catabolic process	endoplasmic reticulum lumen|endoplasmic reticulum membrane|integral to membrane	protein homodimerization activity	g.chr15:68504043G>A	AK000568	CCDS10227.1	15q23	2014-09-17			ENSG00000128973	ENSG00000128973			2077	protein-coding gene	gene with protein product		606725				9097964, 11727201	Standard	NM_017882		Approved	FLJ20561, HsT18960, nclf	uc002arf.3	Q9NWW5	OTTHUMG00000133286	ENST00000249806.5:c.456C>T	15.37:g.68504043G>A						CLN6_uc010ujy.1_Intron|CLN6_uc010ujz.1_Silent_p.P184P	p.P152P	NM_017882	NP_060352	Q9NWW5	CLN6_HUMAN			4	614	-			152					A8K560|B4DDH6|Q6IAB1|Q96SR0	Silent	SNP	ENST00000249806.5	37	c.456C>T	CCDS10227.1																																																																																				0.582	CLN6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257066.1	NM_017882		61	154	0	0	0	0	61	154				
MYO1C	4641	broad.mit.edu	37	17	1374583	1374583	+	Missense_Mutation	SNP	G	G	A	rs191439095	byFrequency	TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr17:1374583G>A	ENST00000575158.1	-	20	2140	c.1964C>T	c.(1963-1965)cCg>cTg	p.P655L	MYO1C_ENST00000545534.2_Missense_Mutation_p.P666L|MYO1C_ENST00000359786.5_Missense_Mutation_p.P690L|MYO1C_ENST00000438665.2_Missense_Mutation_p.P671L|MYO1C_ENST00000361007.2_Missense_Mutation_p.P655L			Q12965	MYO1E_HUMAN	myosin IC	651	Myosin motor.				actin filament-based movement (GO:0030048)|ATP catabolic process (GO:0006200)|endocytosis (GO:0006897)|glomerular basement membrane development (GO:0032836)|glomerular filtration (GO:0003094)|glomerular visceral epithelial cell development (GO:0072015)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|post-embryonic hemopoiesis (GO:0035166)|vasculogenesis (GO:0001570)	actin cytoskeleton (GO:0015629)|adherens junction (GO:0005912)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|myosin complex (GO:0016459)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity, coupled (GO:0042623)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|motor activity (GO:0003774)|phosphatidylinositol binding (GO:0035091)			breast(1)|endometrium(2)|kidney(1)|large_intestine(1)|liver(2)|lung(7)|upper_aerodigestive_tract(1)|urinary_tract(2)	17				UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)		CCCATCCTGCGGCCGTCCTGC	0.667													G|||	2	0.000399361	0.0015	0.0	5008	,	,		14719	0.0		0.0	False		,,,				2504	0.0					uc002fsp.2		NA																	0					0						c.(2068-2070)CCG>CTG		myosin IC isoform a		G	LEU/PRO,LEU/PRO,LEU/PRO	0,4406		0,0,2203	47.0	42.0	44.0		2069,2012,1964	4.2	1.0	17		44	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,missense	MYO1C	NM_001080779.1,NM_001080950.1,NM_033375.4	98,98,98	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	benign,benign,benign	690/1064,671/1045,655/1029	1374583	1,13005	2203	4300	6503	SO:0001583	missense	4641				mRNA transport|protein transport|transmembrane transport	basal plasma membrane|cytoplasm|filamentous actin|lateral plasma membrane|nuclear pore|nucleolus|nucleoplasm|stereocilium membrane	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:1374583G>A	X98507	CCDS11003.1, CCDS42226.1, CCDS45562.1	17p13.3	2011-09-27			ENSG00000197879	ENSG00000197879		"""Myosins / Myosin superfamily : Class I"""	7597	protein-coding gene	gene with protein product		606538				9119401	Standard	NM_001080779		Approved	myr2	uc002fsp.3	O00159	OTTHUMG00000090323	ENST00000575158.1:c.1964C>T	17.37:g.1374583G>A	ENSP00000459174:p.Pro655Leu					MYO1C_uc002fsn.2_Missense_Mutation_p.P671L|MYO1C_uc002fso.2_Missense_Mutation_p.P655L|MYO1C_uc010vqj.1_Missense_Mutation_p.P655L|MYO1C_uc010vqk.1_Missense_Mutation_p.P666L	p.P690L	NM_001080779	NP_001074248	O00159	MYO1C_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0822)	20	2289	-			690			Myosin head-like.		Q14778	Missense_Mutation	SNP	ENST00000575158.1	37	c.2069C>T	CCDS11003.1	3	0.0013736263736263737	3	0.006097560975609756	0	0.0	0	0.0	0	0.0	G	9.092	1.002008	0.19121	0.0	1.16E-4	ENSG00000197879	ENST00000359786;ENST00000438665;ENST00000535856;ENST00000361007;ENST00000545534;ENST00000535421	T;T;T;T	0.70869	-0.52;-0.52;-0.52;-0.52	5.15	4.18	0.49190	Myosin head, motor domain (2);	0.480506	0.23660	N	0.045835	T	0.54319	0.1851	L	0.39514	1.22	0.44570	D	0.997533	B;B;B	0.24368	0.046;0.102;0.037	B;B;B	0.23574	0.021;0.047;0.013	T	0.58092	-0.7697	10	0.49607	T	0.09	.	13.0676	0.59043	0.0777:0.0:0.9223:0.0	.	666;690;671	B7Z3E5;O00159;O00159-3	.;MYO1C_HUMAN;.	L	690;671;671;655;666;655	ENSP00000352834:P690L;ENSP00000412197:P671L;ENSP00000354283:P655L;ENSP00000437685:P666L	ENSP00000352834:P690L	P	-	2	0	MYO1C	1321333	1.000000	0.71417	0.998000	0.56505	0.069000	0.16628	3.518000	0.53451	1.183000	0.42943	-0.230000	0.12252	CCG		0.667	MYO1C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438694.2			22	37	0	0	0	0	22	37				
NCR1	9437	broad.mit.edu	37	19	55418074	55418074	+	Missense_Mutation	SNP	G	G	A			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr19:55418074G>A	ENST00000291890.4	+	3	302	c.264G>A	c.(262-264)atG>atA	p.M88I	NCR1_ENST00000357397.5_Intron|NCR1_ENST00000598576.1_Missense_Mutation_p.M76I|NCR1_ENST00000338835.5_Missense_Mutation_p.M88I|NCR1_ENST00000350790.5_Intron|NCR1_ENST00000447255.1_Missense_Mutation_p.M88I|NCR1_ENST00000594765.1_Missense_Mutation_p.M88I	NM_004829.5	NP_004820.2	O76036	NCTR1_HUMAN	natural cytotoxicity triggering receptor 1	88	Ig-like 1.				cellular defense response (GO:0006968)|intracellular signal transduction (GO:0035556)|natural killer cell activation (GO:0030101)|regulation of natural killer cell mediated cytotoxicity (GO:0042269)|signal transduction (GO:0007165)	integral component of plasma membrane (GO:0005887)|SWI/SNF complex (GO:0016514)	receptor signaling protein activity (GO:0005057)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)	18				GBM - Glioblastoma multiforme(193;0.0449)		TCCCGGACATGAACTCCCGCA	0.517																																						uc002qib.2		NA																	0				large_intestine(1)|ovary(1)	2						c.(262-264)ATG>ATA		natural cytotoxicity triggering receptor 1							77.0	81.0	79.0					19																	55418074		2203	4300	6503	SO:0001583	missense	9437				cellular defense response|natural killer cell activation|regulation of natural killer cell mediated cytotoxicity	integral to plasma membrane|SWI/SNF complex	receptor activity|receptor signaling protein activity	g.chr19:55418074G>A	AJ001383	CCDS12911.1, CCDS46181.1, CCDS46182.1, CCDS56103.1	19q13.42	2013-09-20	2002-11-13	2002-11-15	ENSG00000189430	ENSG00000189430		"""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6731	protein-coding gene	gene with protein product		604530	"""lymphocyte antigen 94 (mouse) homolog (activating NK-receptor; NK-p46)"""	LY94		9730896	Standard	NM_001145457		Approved	NK-p46, NKP46, CD335	uc002qib.2	O76036	OTTHUMG00000183212	ENST00000291890.4:c.264G>A	19.37:g.55418074G>A	ENSP00000291890:p.Met88Ile					NCR1_uc002qic.2_Missense_Mutation_p.M88I|NCR1_uc002qie.2_Missense_Mutation_p.M88I|NCR1_uc002qid.2_Intron|NCR1_uc002qif.2_Intron|NCR1_uc010esj.2_Intron	p.M88I	NM_004829	NP_004820	O76036	NCTR1_HUMAN		GBM - Glioblastoma multiforme(193;0.0449)	3	302	+			88			Ig-like 1.|Extracellular (Potential).		B0V3L2|B0V3L3|B0V3L4|B0V3L5|B8JL03|O76016|O76017|O76018	Missense_Mutation	SNP	ENST00000291890.4	37	c.264G>A	CCDS12911.1	.	.	.	.	.	.	.	.	.	.	G	12.68	2.009657	0.35415	.	.	ENSG00000189430	ENST00000291890;ENST00000447255;ENST00000338835	T;T;T	0.10382	2.88;2.88;2.88	3.74	2.65	0.31530	Immunoglobulin-like fold (1);	0.519476	0.19430	N	0.114478	T	0.20373	0.0490	L	0.55834	1.745	0.21950	N	0.999455	D;P;P	0.61697	0.99;0.537;0.554	P;B;B	0.60541	0.876;0.423;0.375	T	0.03034	-1.1080	10	0.35671	T	0.21	.	8.9724	0.35915	0.0:0.2274:0.7726:0.0	.	88;88;88	B0V3L5;O76036-6;O76036	.;.;NCTR1_HUMAN	I	88	ENSP00000291890:M88I;ENSP00000404434:M88I;ENSP00000339515:M88I	ENSP00000291890:M88I	M	+	3	0	NCR1	60109886	0.422000	0.25473	0.062000	0.19696	0.012000	0.07955	1.680000	0.37607	1.095000	0.41419	0.555000	0.69702	ATG		0.517	NCR1-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000465680.1			39	74	0	0	0	0	39	74				
SPTBN1	6711	broad.mit.edu	37	2	54844759	54844759	+	Missense_Mutation	SNP	A	A	G			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr2:54844759A>G	ENST00000356805.4	+	6	862	c.581A>G	c.(580-582)aAc>aGc	p.N194S	SPTBN1_ENST00000333896.5_Missense_Mutation_p.N181S	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	194	Actin-binding.|CH 2. {ECO:0000255|PROSITE- ProRule:PRU00044}.				actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			CCCAATGTCAACATTCACAAT	0.438																																						uc002rxu.2		NA																	0				ovary(3)|breast(2)|central_nervous_system(2)|skin(1)	8						c.(580-582)AAC>AGC		spectrin, beta, non-erythrocytic 1 isoform 1							168.0	138.0	148.0					2																	54844759		2203	4300	6503	SO:0001583	missense	6711				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54844759A>G		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.581A>G	2.37:g.54844759A>G	ENSP00000349259:p.Asn194Ser					SPTBN1_uc002rxv.1_Missense_Mutation_p.N194S|SPTBN1_uc002rxx.2_Missense_Mutation_p.N181S	p.N194S	NM_003128	NP_003119	Q01082	SPTB2_HUMAN	Lung(47;0.24)		6	830	+			194			CH 2.|Actin-binding.		B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	ENST00000356805.4	37	c.581A>G	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	A	26.7	4.767480	0.90020	.	.	ENSG00000115306	ENST00000356805;ENST00000389980;ENST00000333896	T;T;D	0.95656	0.21;0.21;-3.77	5.07	5.07	0.68467	Calponin homology domain (5);	0.000000	0.85682	D	0.000000	D	0.96914	0.8992	M	0.71036	2.16	0.58432	D	0.999999	D;D	0.69078	0.98;0.997	P;P	0.62560	0.645;0.904	D	0.97447	1.0025	10	0.72032	D	0.01	.	15.1244	0.72472	1.0:0.0:0.0:0.0	.	181;194	Q01082-3;Q01082	.;SPTB2_HUMAN	S	194;194;181	ENSP00000349259:N194S;ENSP00000374630:N194S;ENSP00000334156:N181S	ENSP00000334156:N181S	N	+	2	0	SPTBN1	54698263	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	9.229000	0.95273	2.041000	0.60428	0.533000	0.62120	AAC		0.438	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			19	39	0	0	0	0	19	39				
THSD7B	80731	broad.mit.edu	37	2	137814582	137814582	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr2:137814582G>T	ENST00000409968.1	+	3	910	c.732G>T	c.(730-732)aaG>aaT	p.K244N	THSD7B_ENST00000272643.3_Missense_Mutation_p.K244N|THSD7B_ENST00000543459.1_Missense_Mutation_p.K103N|THSD7B_ENST00000413152.2_Missense_Mutation_p.K213N			Q9C0I4	THS7B_HUMAN	thrombospondin, type I, domain containing 7B	244						integral component of membrane (GO:0016021)				NS(3)|breast(3)|central_nervous_system(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(14)|lung(57)|ovary(4)|pancreas(3)|prostate(11)|skin(4)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	134				BRCA - Breast invasive adenocarcinoma(221;0.19)		TTAGCCTTAAGGTTGGACCAT	0.423																																						uc002tva.1		NA																	0				ovary(4)|central_nervous_system(2)|pancreas(1)	7						c.(637-639)AAG>AAT		thrombospondin, type I, domain containing 7B							157.0	154.0	155.0					2																	137814582		1882	4120	6002	SO:0001583	missense	80731							g.chr2:137814582G>T			2q22.1	2006-11-24			ENSG00000144229	ENSG00000144229			29348	protein-coding gene	gene with protein product						11214970	Standard	NM_001080427		Approved	KIAA1679	uc002tva.1	Q9C0I4	OTTHUMG00000153590	ENST00000409968.1:c.732G>T	2.37:g.137814582G>T	ENSP00000387145:p.Lys244Asn					THSD7B_uc010zbj.1_RNA|THSD7B_uc002tvb.2_Missense_Mutation_p.K103N	p.K213N	NM_001080427	NP_001073896				BRCA - Breast invasive adenocarcinoma(221;0.19)	2	639	+									Missense_Mutation	SNP	ENST00000409968.1	37	c.639G>T		.	.	.	.	.	.	.	.	.	.	G	16.47	3.131624	0.56828	.	.	ENSG00000144229	ENST00000409968;ENST00000272643;ENST00000413152;ENST00000543459	T;T;T;T	0.24538	2.39;2.25;1.86;1.85	5.56	-3.78	0.04333	.	0.081927	0.85682	D	0.000000	T	0.30634	0.0771	L	0.49640	1.575	0.58432	D	0.999999	D;D	0.76494	0.998;0.999	D;D	0.74348	0.937;0.983	T	0.39057	-0.9632	10	0.17369	T	0.5	.	6.1322	0.20211	0.2962:0.0:0.4718:0.232	.	244;213	Q9C0I4;C9JKN6	THS7B_HUMAN;.	N	244;244;213;103	ENSP00000387145:K244N;ENSP00000272643:K244N;ENSP00000413841:K213N;ENSP00000443370:K103N	ENSP00000272643:K244N	K	+	3	2	THSD7B	137531052	0.926000	0.31397	0.990000	0.47175	0.990000	0.78478	0.175000	0.16762	-0.366000	0.08064	-0.482000	0.04802	AAG		0.423	THSD7B-001	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000331769.2	XM_046570.9		86	190	1	0	8.68e-40	9.78e-40	86	190				
XIRP2	129446	broad.mit.edu	37	2	168106779	168106779	+	Silent	SNP	G	G	A			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr2:168106779G>A	ENST00000409195.1	+	9	8966	c.8877G>A	c.(8875-8877)tcG>tcA	p.S2959S	XIRP2_ENST00000295237.9_Silent_p.S2959S|XIRP2_ENST00000409605.1_Intron|XIRP2_ENST00000409273.1_Silent_p.S2737S|XIRP2_ENST00000409728.1_Intron|XIRP2_ENST00000409756.2_Intron|XIRP2_ENST00000420519.1_Intron|XIRP2_ENST00000409043.1_Intron	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	2784					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						AGATTTTGTCGAGAGTGAAAC	0.383																																						uc002udx.2		NA																	0				skin(7)|ovary(6)|pancreas(1)	14						c.(8875-8877)TCG>TCA		xin actin-binding repeat containing 2 isoform 1							92.0	89.0	90.0					2																	168106779		1820	4087	5907	SO:0001819	synonymous_variant	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:168106779G>A	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409195.1:c.8877G>A	2.37:g.168106779G>A						XIRP2_uc010fpn.2_Intron|XIRP2_uc010fpo.2_Intron|XIRP2_uc010fpp.2_Intron|XIRP2_uc002udy.2_Silent_p.S2784S|XIRP2_uc010fpq.2_Silent_p.S2737S|XIRP2_uc010fpr.2_Intron|XIRP2_uc010fps.1_Silent_p.S305S	p.S2959S	NM_152381	NP_689594	A4UGR9	XIRP2_HUMAN			8	8895	+			2784			Potential.		A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Silent	SNP	ENST00000409195.1	37	c.8877G>A	CCDS42769.1																																																																																				0.383	XIRP2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000333547.1	NM_152381		74	135	0	0	0	0	74	135				
WIPF1	7456	broad.mit.edu	37	2	175446127	175446127	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr2:175446127G>C	ENST00000392547.2	-	3	191	c.92C>G	c.(91-93)gCt>gGt	p.A31G	WIPF1_ENST00000410117.1_Missense_Mutation_p.A31G|AC018890.6_ENST00000442996.1_RNA|WIPF1_ENST00000409415.3_Missense_Mutation_p.A31G|AC018890.6_ENST00000412835.1_RNA|WIPF1_ENST00000359761.3_Missense_Mutation_p.A31G|WIPF1_ENST00000272746.5_Missense_Mutation_p.A31G|WIPF1_ENST00000409891.1_Missense_Mutation_p.A31G|WIPF1_ENST00000392546.2_Missense_Mutation_p.A31G|AC010894.5_ENST00000454203.1_RNA	NM_003387.4	NP_003378.3	O43516	WIPF1_HUMAN	WAS/WASL interacting protein family, member 1	31					actin filament-based movement (GO:0030048)|actin polymerization or depolymerization (GO:0008154)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|innate immune response (GO:0045087)|protein complex assembly (GO:0006461)|response to other organism (GO:0051707)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell projection (GO:0042995)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	actin binding (GO:0003779)|profilin binding (GO:0005522)			NS(1)|breast(1)|endometrium(5)|large_intestine(7)|lung(15)|ovary(2)|skin(1)	32						ATTTCTCCCAGCCTGCTCTGT	0.418																																						uc002uiy.2		NA																	0				ovary(1)|skin(1)	2						c.(91-93)GCT>GGT		WAS/WASL interacting protein family, member 1							242.0	223.0	230.0					2																	175446127		2203	4300	6503	SO:0001583	missense	7456				actin polymerization or depolymerization|protein complex assembly	cytoplasmic membrane-bounded vesicle	actin binding|profilin binding	g.chr2:175446127G>C	AF031588	CCDS2260.1	2q31.2	2014-09-17	2006-10-12	2006-10-12	ENSG00000115935	ENSG00000115935			12736	protein-coding gene	gene with protein product		602357	"""Wiskott-Aldrich syndrome protein interacting protein"""	WASPIP		9405671	Standard	NM_001077269		Approved	WIP	uc002uiz.3	O43516	OTTHUMG00000132334	ENST00000392547.2:c.92C>G	2.37:g.175446127G>C	ENSP00000376330:p.Ala31Gly					uc002uiw.2_Intron|uc002uix.1_Intron|WIPF1_uc002uja.2_Missense_Mutation_p.A31G|WIPF1_uc010fqt.1_Missense_Mutation_p.A31G|WIPF1_uc002ujc.1_Missense_Mutation_p.A31G|WIPF1_uc002uiz.2_Missense_Mutation_p.A31G|WIPF1_uc002ujb.1_Missense_Mutation_p.A31G|WIPF1_uc010zep.1_Missense_Mutation_p.A31G	p.A31G	NM_003387	NP_003378	O43516	WIPF1_HUMAN			4	424	-			31					B8ZZM1|D3DPE4|Q15220|Q53TA9|Q6MZU9|Q9BU37|Q9UNP1	Missense_Mutation	SNP	ENST00000392547.2	37	c.92C>G	CCDS2260.1	.	.	.	.	.	.	.	.	.	.	G	20.7	4.037726	0.75617	.	.	ENSG00000115935	ENST00000392547;ENST00000392548;ENST00000272746;ENST00000359761;ENST00000392546;ENST00000409891;ENST00000409415;ENST00000455428;ENST00000410117;ENST00000436221	T;T;T;T;T;T;T;T;T	0.38077	1.16;1.16;1.16;1.16;1.16;1.16;1.16;1.16;1.16	5.76	5.76	0.90799	.	0.319312	0.34507	N	0.003907	T	0.41190	0.1148	L	0.33485	1.01	0.36648	D	0.877205	P;D;P;P	0.53619	0.792;0.961;0.792;0.558	B;P;B;P	0.50082	0.269;0.468;0.269;0.63	T	0.33752	-0.9856	10	0.41790	T	0.15	.	19.5526	0.95328	0.0:0.0:1.0:0.0	.	31;31;31;31	O43516-3;E9PB87;O43516-2;O43516	.;.;.;WIPF1_HUMAN	G	31	ENSP00000376330:A31G;ENSP00000272746:A31G;ENSP00000352802:A31G;ENSP00000376329:A31G;ENSP00000386431:A31G;ENSP00000387150:A31G;ENSP00000391785:A31G;ENSP00000386757:A31G;ENSP00000388454:A31G	ENSP00000272746:A31G	A	-	2	0	WIPF1	175154373	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.478000	0.60230	2.736000	0.93811	0.655000	0.94253	GCT		0.418	WIPF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255453.1	NM_003387		118	198	0	0	0	0	118	198				
TTN	7273	broad.mit.edu	37	2	179401254	179401254	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr2:179401254T>C	ENST00000591111.1	-	307	95521	c.95297A>G	c.(95296-95298)gAt>gGt	p.D31766G	TTN-AS1_ENST00000588716.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000415561.1_RNA|TTN-AS1_ENST00000589842.1_RNA|TTN-AS1_ENST00000585487.1_RNA|TTN-AS1_ENST00000588804.1_RNA|TTN-AS1_ENST00000588257.1_RNA|TTN-AS1_ENST00000431259.2_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.D24534G|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000589391.1_RNA|TTN-AS1_ENST00000591466.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.D24467G|TTN-AS1_ENST00000589434.1_RNA|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592836.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000588244.1_RNA|TTN-AS1_ENST00000592182.1_RNA|TTN-AS1_ENST00000585358.1_RNA|TTN-AS1_ENST00000590040.1_RNA|TTN_ENST00000589042.1_Missense_Mutation_p.D33407G|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.D30839G|TTN-AS1_ENST00000591867.1_RNA|TTN-AS1_ENST00000450692.2_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.D24342G|TTN-AS1_ENST00000442329.2_RNA			Q8WZ42	TITIN_HUMAN	titin	31766	Fibronectin type-III 131. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			AACACAAGAATCTTTTGTGAC	0.403																																						uc010zfg.1		NA																	0				ovary(58)|stomach(19)|large_intestine(17)|lung(16)|skin(16)|breast(10)|pancreas(7)|kidney(4)|central_nervous_system(3)|urinary_tract(2)|upper_aerodigestive_tract(1)	153						c.(92515-92517)GAT>GGT		titin isoform N2-A							66.0	64.0	64.0					2																	179401254		1830	4094	5924	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179401254T>C	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.95297A>G	2.37:g.179401254T>C	ENSP00000465570:p.Asp31766Gly					uc002umo.2_Intron|uc002ump.1_Intron|TTN_uc010zfh.1_Missense_Mutation_p.D24534G|TTN_uc010zfi.1_Missense_Mutation_p.D24467G|TTN_uc010zfj.1_Missense_Mutation_p.D24342G	p.D30839G	NM_133378	NP_596869	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		306	92740	-			31766					A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.92516A>G		.	.	.	.	.	.	.	.	.	.	T	19.39	3.819403	0.71028	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58210	0.35;0.35;0.35;0.35	5.76	5.76	0.90799	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.63355	0.2504	M	0.72353	2.195	0.58432	D	0.999996	P;P;P;P	0.43938	0.822;0.822;0.822;0.822	P;P;P;P	0.48488	0.492;0.492;0.492;0.579	T	0.68002	-0.5524	9	0.87932	D	0	.	16.0677	0.80897	0.0:0.0:0.0:1.0	.	24342;24467;24534;31766	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	G	30839;24342;24534;24467;24339	ENSP00000343764:D30839G;ENSP00000434586:D24342G;ENSP00000340554:D24534G;ENSP00000352154:D24467G	ENSP00000340554:D24534G	D	-	2	0	TTN	179109500	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	8.040000	0.89188	2.185000	0.69588	0.460000	0.39030	GAT		0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		46	92	0	0	0	0	46	92				
MC3R	4159	broad.mit.edu	37	20	54824431	54824431	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr20:54824431G>C	ENST00000243911.2	+	1	644	c.532G>C	c.(532-534)Gtg>Ctg	p.V178L		NM_019888.3	NP_063941.3	P41968	MC3R_HUMAN	melanocortin 3 receptor	178					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|homoiothermy (GO:0042309)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|positive regulation of cAMP biosynthetic process (GO:0030819)|regulation of blood pressure (GO:0008217)|regulation of heart rate (GO:0002027)|sodium ion homeostasis (GO:0055078)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	melanocortin receptor activity (GO:0004977)|melanocyte-stimulating hormone receptor activity (GO:0004980)|neuropeptide binding (GO:0042923)|peptide hormone binding (GO:0017046)			breast(2)|endometrium(1)|kidney(3)|large_intestine(3)|lung(13)|ovary(3)|skin(1)	26			Colorectal(105;0.202)			CTGTGGCGTGGTGTTCATCGT	0.557																																						uc002xxb.2		NA																	0				ovary(2)|breast(2)	4						c.(532-534)GTG>CTG		melanocortin 3 receptor							218.0	196.0	203.0					20																	54824431		2203	4300	6503	SO:0001583	missense	4159				activation of phospholipase C activity by G-protein coupled receptor protein signaling pathway coupled to IP3 second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	melanocyte-stimulating hormone receptor activity|neuropeptide binding|protein binding	g.chr20:54824431G>C		CCDS13449.2	20q13.2-q13.3	2012-08-10			ENSG00000124089	ENSG00000124089		"""GPCR / Class A : Melanocortin receptors"""	6931	protein-coding gene	gene with protein product		155540				8463333	Standard	NM_019888		Approved	MC3	uc002xxb.2	P41968	OTTHUMG00000032785	ENST00000243911.2:c.532G>C	20.37:g.54824431G>C	ENSP00000243911:p.Val178Leu						p.V178L	NM_019888	NP_063941	P41968	MC3R_HUMAN	Colorectal(105;0.202)		1	644	+			215			Helical; Name=4; (Potential).		Q4KN27|Q9H517	Missense_Mutation	SNP	ENST00000243911.2	37	c.532G>C	CCDS13449.2	.	.	.	.	.	.	.	.	.	.	G	3.167	-0.170776	0.06421	.	.	ENSG00000124089	ENST00000243911	T	0.35421	1.31	5.37	-1.05	0.10036	GPCR, rhodopsin-like superfamily (1);	0.406531	0.21606	N	0.071878	T	0.11153	0.0272	N	0.04245	-0.25	0.29784	N	0.833755	B	0.10296	0.003	B	0.12156	0.007	T	0.36553	-0.9743	10	0.02654	T	1	.	5.7941	0.18377	0.2469:0.3824:0.3706:0.0	.	215	P41968	MC3R_HUMAN	L	178	ENSP00000243911:V178L	ENSP00000243911:V178L	V	+	1	0	MC3R	54257838	0.998000	0.40836	0.991000	0.47740	0.954000	0.61252	0.596000	0.24044	-0.030000	0.13804	0.650000	0.86243	GTG		0.557	MC3R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079786.2			55	121	0	0	0	0	55	121				
COL6A2	1292	broad.mit.edu	37	21	47545929	47545929	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr21:47545929C>T	ENST00000300527.4	+	26	2304	c.2200C>T	c.(2200-2202)Cgc>Tgc	p.R734C	COL6A2_ENST00000397763.1_Missense_Mutation_p.R734C|COL6A2_ENST00000409416.1_Missense_Mutation_p.R734C|COL6A2_ENST00000310645.5_Missense_Mutation_p.R734C|COL6A2_ENST00000357838.4_Missense_Mutation_p.R734C	NM_001849.3	NP_001840.3	P12110	CO6A2_HUMAN	collagen, type VI, alpha 2	734	Nonhelical region.|VWFA 2. {ECO:0000255|PROSITE- ProRule:PRU00219}.				axon guidance (GO:0007411)|cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|protein heterotrimerization (GO:0070208)|response to glucose (GO:0009749)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)|proteinaceous extracellular matrix (GO:0005578)|sarcolemma (GO:0042383)|vesicle (GO:0031982)				NS(1)|breast(1)|central_nervous_system(7)|endometrium(7)|kidney(5)|liver(1)|lung(15)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	43	Breast(49;0.245)			Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)		CACGGACGGGCGCCACGACCC	0.637																																						uc002zia.1		NA																	0				central_nervous_system(7)|ovary(1)	8						c.(2200-2202)CGC>TGC		alpha 2 type VI collagen isoform 2C2 precursor							81.0	78.0	79.0					21																	47545929		2203	4300	6503	SO:0001583	missense	1292				axon guidance|cell-cell adhesion|extracellular matrix organization|protein heterotrimerization	collagen|extracellular space|protein complex	extracellular matrix structural constituent|protein binding, bridging	g.chr21:47545929C>T	M20777	CCDS13728.1, CCDS13729.1, CCDS13730.1	21q22.3	2014-09-17			ENSG00000142173	ENSG00000142173		"""Collagens"""	2212	protein-coding gene	gene with protein product		120240					Standard	NM_001849		Approved		uc002zia.1	P12110	OTTHUMG00000090489	ENST00000300527.4:c.2200C>T	21.37:g.47545929C>T	ENSP00000300527:p.Arg734Cys					COL6A2_uc002zhy.1_Missense_Mutation_p.R734C|COL6A2_uc002zhz.1_Missense_Mutation_p.R734C|COL6A2_uc002zib.1_Missense_Mutation_p.R140C|COL6A2_uc002zic.1_5'Flank	p.R734C	NM_001849	NP_001840	P12110	CO6A2_HUMAN		Colorectal(79;0.0303)|READ - Rectum adenocarcinoma(84;0.0649)	26	2282	+	Breast(49;0.245)		734			VWFA 2.|Nonhelical region.		Q13909|Q13910|Q13911|Q14048|Q14049|Q16259|Q16597|Q6P0Q1|Q9UML3|Q9Y4S8	Missense_Mutation	SNP	ENST00000300527.4	37	c.2200C>T	CCDS13728.1	.	.	.	.	.	.	.	.	.	.	C	16.18	3.049220	0.55110	.	.	ENSG00000142173	ENST00000300527;ENST00000357838;ENST00000310645;ENST00000409416;ENST00000397763	D;D;D;D;D	0.84223	-1.82;-1.82;-1.82;-1.82;-1.82	4.05	3.14	0.36123	von Willebrand factor, type A (3);	0.053681	0.85682	D	0.000000	D	0.93390	0.7892	M	0.92122	3.275	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.91635	0.999;0.951;0.917	D	0.93839	0.7135	10	0.87932	D	0	-15.8084	12.7245	0.57162	0.1662:0.8338:0.0:0.0	.	734;734;734	P12110;P12110-2;P12110-3	CO6A2_HUMAN;.;.	C	734	ENSP00000300527:R734C;ENSP00000350497:R734C;ENSP00000312529:R734C;ENSP00000387115:R734C;ENSP00000380870:R734C	ENSP00000300527:R734C	R	+	1	0	COL6A2	46370357	1.000000	0.71417	0.990000	0.47175	0.752000	0.42762	7.555000	0.82223	0.653000	0.30826	0.491000	0.48974	CGC		0.637	COL6A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206971.1			47	96	0	0	0	0	47	96				
ATG7	10533	broad.mit.edu	37	3	11600120	11600120	+	IGR	SNP	G	G	A			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr3:11600120G>A	ENST00000354449.3	+	0	4959				VGLL4_ENST00000413604.1_Silent_p.S202S|VGLL4_ENST00000404339.1_Silent_p.S266S|VGLL4_ENST00000273038.3_Silent_p.S261S|VGLL4_ENST00000430365.2_Silent_p.S267S|VGLL4_ENST00000424529.2_Silent_p.S177S|VGLL4_ENST00000451674.2_Silent_p.S181S	NM_006395.2	NP_006386.1	O95352	ATG7_HUMAN	autophagy related 7						adult walking behavior (GO:0007628)|C-terminal protein lipidation (GO:0006501)|cardiac muscle cell development (GO:0055013)|cellular amino acid metabolic process (GO:0006520)|cellular protein modification process (GO:0006464)|cellular response to hyperoxia (GO:0071455)|cellular response to nitrogen starvation (GO:0006995)|cellular response to starvation (GO:0009267)|central nervous system neuron axonogenesis (GO:0021955)|cerebellar Purkinje cell layer development (GO:0021680)|cerebral cortex development (GO:0021987)|late nucleophagy (GO:0044805)|liver development (GO:0001889)|membrane fusion (GO:0061025)|mitochondrion degradation (GO:0000422)|mitochondrion organization (GO:0007005)|negative regulation of apoptotic process (GO:0043066)|negative stranded viral RNA replication (GO:0039689)|neurological system process (GO:0050877)|piecemeal microautophagy of nucleus (GO:0034727)|positive regulation of apoptotic process (GO:0043065)|positive regulation of autophagy (GO:0010508)|positive regulation of macroautophagy (GO:0016239)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of protein modification process (GO:0031401)|post-embryonic development (GO:0009791)|protein catabolic process (GO:0030163)|protein lipidation (GO:0006497)|protein modification by small protein conjugation (GO:0032446)|protein transport (GO:0015031)|pyramidal neuron development (GO:0021860)|regulation of protein ubiquitination (GO:0031396)	axoneme (GO:0005930)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|pre-autophagosomal structure (GO:0000407)	Atg12 activating enzyme activity (GO:0019778)|Atg8 activating enzyme (GO:0019779)|protein homodimerization activity (GO:0042803)|transcription factor binding (GO:0008134)|ubiquitin activating enzyme activity (GO:0004839)			central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(4)|lung(14)|prostate(1)|skin(2)|urinary_tract(1)	34						ACTCAGGGCTGCTGGATGCTC	0.657																																						uc003bwf.2		NA																	0				ovary(1)	1						c.(781-783)AGC>AGT		vestigial like 4 isoform b							63.0	70.0	68.0					3																	11600120		2203	4300	6503	SO:0001628	intergenic_variant	9686				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus		g.chr3:11600120G>A	AF094516	CCDS2605.1, CCDS46752.1, CCDS46753.1	3p25.3-p25.2	2014-02-18	2012-06-06	2005-09-11	ENSG00000197548	ENSG00000197548		"""Ubiquitin-like modifier activating enzymes"""	16935	protein-coding gene	gene with protein product	"""ubiquitin-activating enzyme E1-like protein"""	608760	"""APG7 autophagy 7-like (S. cerevisiae)"", ""ATG7 autophagy related 7 homolog (S. cerevisiae)"""	APG7L		10233149	Standard	NM_006395		Approved	GSA7, DKFZp434N0735	uc003bwc.3	O95352	OTTHUMG00000129740		3.37:g.11600120G>A						VGLL4_uc010hdx.1_Silent_p.S267S|VGLL4_uc003bwg.2_Silent_p.S266S|VGLL4_uc010hdv.1_Silent_p.S177S|VGLL4_uc010hdw.1_Silent_p.S181S|VGLL4_uc011aun.1_Silent_p.S202S	p.S261S	NM_014667	NP_055482	Q14135	VGLL4_HUMAN		LUSC - Lung squamous cell carcinoma(1;0.089)|Lung(1;0.111)	6	1149	-			261					B4E170|E9PB95|Q7L8L0|Q9BWP2|Q9UFH4	Silent	SNP	ENST00000354449.3	37	c.783C>T	CCDS2605.1																																																																																				0.657	ATG7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251951.3	NM_006395		33	64	0	0	0	0	33	64				
ALS2CL	259173	broad.mit.edu	37	3	46725326	46725326	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr3:46725326G>C	ENST00000318962.4	-	9	941	c.858C>G	c.(856-858)caC>caG	p.H286Q	ALS2CL_ENST00000415953.1_Missense_Mutation_p.H286Q	NM_147129.3	NP_667340.2	Q60I27	AL2CL_HUMAN	ALS2 C-terminal like	286					endosome organization (GO:0007032)|protein localization (GO:0008104)	cytoplasmic membrane-bounded vesicle (GO:0016023)	GTPase activator activity (GO:0005096)|identical protein binding (GO:0042802)|Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(1)|lung(7)|skin(3)|stomach(2)	29				BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)		GCGTGAGGAGGTGAAACGTGC	0.617																																						uc003cqa.1		NA																	0				breast(2)|central_nervous_system(2)|skin(1)	5						c.(856-858)CAC>CAG		ALS2 C-terminal like isoform 1							123.0	121.0	122.0					3																	46725326		2203	4300	6503	SO:0001583	missense	259173				endosome organization|regulation of Rho protein signal transduction		GTPase activator activity|identical protein binding|Rho guanyl-nucleotide exchange factor activity	g.chr3:46725326G>C	AK074118	CCDS2743.1, CCDS43080.1	3p21.31	2008-01-30			ENSG00000178038	ENSG00000178038			20605	protein-coding gene	gene with protein product		612402				15388334, 8889548, 17239822	Standard	NM_147129		Approved	FLJ36525, RN49018, DKFZp686I0110	uc003cqb.2	Q60I27	OTTHUMG00000128673	ENST00000318962.4:c.858C>G	3.37:g.46725326G>C	ENSP00000313670:p.His286Gln					ALS2CL_uc003cpz.1_5'Flank|ALS2CL_uc003cqb.1_Missense_Mutation_p.H286Q|ALS2CL_uc003cqc.1_RNA	p.H286Q	NM_147129	NP_667340	Q60I27	AL2CL_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000726)|KIRC - Kidney renal clear cell carcinoma(197;0.0171)|Kidney(197;0.0202)	9	1048	-			286					Q32MA1|Q6AI56|Q6ZNC5|Q6ZNC7|Q6ZTL4|Q86YD2|Q8N9U1|Q8NAL7	Missense_Mutation	SNP	ENST00000318962.4	37	c.858C>G	CCDS2743.1	.	.	.	.	.	.	.	.	.	.	G	8.677	0.904319	0.17760	.	.	ENSG00000178038	ENST00000318962;ENST00000415953	T;T	0.53640	0.61;0.61	4.73	-3.69	0.04450	.	0.229314	0.27311	N	0.019942	T	0.34279	0.0892	M	0.72118	2.19	0.09310	N	1	B	0.10296	0.003	B	0.04013	0.001	T	0.18650	-1.0330	10	0.34782	T	0.22	.	1.7186	0.02907	0.4596:0.132:0.2604:0.148	.	286	Q60I27	AL2CL_HUMAN	Q	286	ENSP00000313670:H286Q;ENSP00000413223:H286Q	ENSP00000313670:H286Q	H	-	3	2	ALS2CL	46700330	0.000000	0.05858	0.001000	0.08648	0.212000	0.24457	-1.277000	0.02812	-0.626000	0.05596	-0.119000	0.15052	CAC		0.617	ALS2CL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250567.3	NM_147129		65	62	0	0	0	0	65	62				
PDE12	201626	broad.mit.edu	37	3	57543283	57543283	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr3:57543283C>T	ENST00000311180.8	+	1	1280	c.1177C>T	c.(1177-1179)Ctt>Ttt	p.L393F	PDE12_ENST00000487257.1_Missense_Mutation_p.L393F	NM_177966.5	NP_808881.3	Q6L8Q7	PDE12_HUMAN	phosphodiesterase 12	393					mRNA processing (GO:0006397)	mitochondrion (GO:0005739)	metal ion binding (GO:0046872)|poly(A)-specific ribonuclease activity (GO:0004535)			breast(1)|central_nervous_system(2)|endometrium(1)|kidney(1)|large_intestine(2)|liver(4)|lung(3)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	20				KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)		TAAGTTCAGCCTTCTTAGCCA	0.532																																					Colon(125;308 1634 19198 50622 50717)	uc003diw.3		NA																	0					0						c.(1177-1179)CTT>TTT		phosphodiesterase 12							57.0	59.0	58.0					3																	57543283		2203	4300	6503	SO:0001583	missense	201626						hydrolase activity	g.chr3:57543283C>T	AK074423	CCDS33772.1	3p14.3	2013-10-11			ENSG00000174840	ENSG00000174840			25386	protein-coding gene	gene with protein product	"""2'-phosphodiesterase"""					15231837	Standard	NM_177966		Approved	DKFZp667B1218, 2'-PDE	uc003diw.4	Q6L8Q7	OTTHUMG00000158599	ENST00000311180.8:c.1177C>T	3.37:g.57543283C>T	ENSP00000309142:p.Leu393Phe					PDE12_uc003div.2_Missense_Mutation_p.L393F	p.L393F	NM_177966	NP_808881	Q6L8Q7	PDE12_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.011)|Kidney(284;0.0127)	1	1303	+			393					B4DTU8|Q8IYU3|Q8NDU2|Q8TE78	Missense_Mutation	SNP	ENST00000311180.8	37	c.1177C>T	CCDS33772.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.276541	0.80580	.	.	ENSG00000174840	ENST00000487257;ENST00000311180	D;D	0.95622	-3.76;-3.76	5.56	5.56	0.83823	Endonuclease/exonuclease/phosphatase (2);	0.000000	0.85682	D	0.000000	D	0.96185	0.8756	M	0.73217	2.22	0.80722	D	1	P;P	0.48834	0.85;0.916	P;P	0.49047	0.599;0.464	D	0.95988	0.8983	10	0.52906	T	0.07	-17.3673	19.5261	0.95208	0.0:1.0:0.0:0.0	.	393;393	Q6L8Q7;F6T1Q0	PDE12_HUMAN;.	F	393	ENSP00000420626:L393F;ENSP00000309142:L393F	ENSP00000309142:L393F	L	+	1	0	PDE12	57518323	0.990000	0.36364	0.955000	0.39395	0.914000	0.54420	2.911000	0.48774	2.632000	0.89209	0.655000	0.94253	CTT		0.532	PDE12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000351440.2	NM_177966		34	21	0	0	0	0	34	21				
TRA2B	6434	broad.mit.edu	37	3	185655648	185655648	+	Start_Codon_SNP	SNP	T	T	C			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr3:185655648T>C	ENST00000453386.2	-	1	276	c.1A>G	c.(1-3)Atg>Gtg	p.M1V	TRA2B_ENST00000471134.1_5'Flank|TRA2B_ENST00000342294.4_Start_Codon_SNP_p.M1V|TRA2B_ENST00000382191.4_5'UTR	NM_004593.2	NP_004584.1	P62995	TRA2B_HUMAN	transformer 2 beta homolog (Drosophila)	1					mRNA splicing, via spliceosome (GO:0000398)|positive regulation of mRNA splicing, via spliceosome (GO:0048026)|regulation of alternative mRNA splicing, via spliceosome (GO:0000381)|RNA splicing, via transesterification reactions (GO:0000375)	nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)			breast(2)|kidney(1)|large_intestine(6)|lung(4)|ovary(3)|prostate(1)|urinary_tract(1)	18						CTGTCGCTCATGACTCCTGGC	0.632																																						uc003fpv.2		NA																	0				ovary(2)	2						c.(1-3)ATG>GTG		splicing factor, arginine/serine-rich 10							108.0	97.0	100.0					3																	185655648		2203	4300	6503	SO:0001582	initiator_codon_variant	6434				nuclear mRNA splicing, via spliceosome	nucleus	nucleotide binding|protein binding|RNA binding	g.chr3:185655648T>C	AF057159	CCDS33905.1, CCDS58872.1	3q26.2-q27	2014-06-13	2009-02-27	2009-02-27	ENSG00000136527	ENSG00000136527		"""RNA binding motif (RRM) containing"""	10781	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 156"""	602719	"""splicing factor, arginine/serine-rich 10 (transformer 2 homolog, Drosophila)"""	SFRS10		9790768	Standard	NM_004593		Approved	Htra2-beta, PPP1R156	uc003fpv.3	P62995	OTTHUMG00000156641	ENST00000453386.2:c.1A>G	3.37:g.185655648T>C	ENSP00000416959:p.Met1Val					TRA2B_uc003fpu.2_5'Flank|TRA2B_uc010hym.2_5'UTR|TRA2B_uc003fpw.2_Missense_Mutation_p.M1V|TRA2B_uc003fpx.2_RNA	p.M1V	NM_004593	NP_004584	P62995	TRA2B_HUMAN			1	277	-			1					B4DVK2|D3DNU3|O15449|Q15815|Q64283	Missense_Mutation	SNP	ENST00000453386.2	37	c.1A>G	CCDS33905.1	.	.	.	.	.	.	.	.	.	.	T	13.85	2.358742	0.41801	.	.	ENSG00000136527	ENST00000453386;ENST00000342294	T	0.20332	2.08	5.62	5.62	0.85841	.	0.046186	0.85682	D	0.000000	T	0.21307	0.0513	.	.	.	0.80722	D	1	B;B	0.26041	0.14;0.14	B;B	0.26202	0.067;0.067	T	0.02676	-1.1125	9	0.87932	D	0	.	13.3439	0.60561	0.0:0.0:0.0:1.0	.	1;1	B2RDQ3;P62995	.;TRA2B_HUMAN	V	1	ENSP00000416959:M1V	ENSP00000343857:M1V	M	-	1	0	TRA2B	187138342	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	4.178000	0.58284	2.131000	0.65755	0.533000	0.62120	ATG		0.632	TRA2B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344984.1	NM_004593	Missense_Mutation	26	37	0	0	0	0	26	37				
UGT2B11	10720	broad.mit.edu	37	4	70079789	70079789	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr4:70079789G>T	ENST00000446444.1	-	1	660	c.652C>A	c.(652-654)Ctt>Att	p.L218I	RP11-704M14.1_ENST00000505646.1_RNA|RP11-704M14.1_ENST00000504301.1_RNA	NM_001073.1	NP_001064.1	O75310	UDB11_HUMAN	UDP glucuronosyltransferase 2 family, polypeptide B11	218					estrogen metabolic process (GO:0008210)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	glucuronosyltransferase activity (GO:0015020)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(18)|ovary(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	42						TCAAAATAAAGCACATAGATC	0.338																																						uc003heh.2		NA																	0				ovary(1)|haematopoietic_and_lymphoid_tissue(1)|skin(1)	3						c.(652-654)CTT>ATT		UDP glucuronosyltransferase 2 family,							64.0	62.0	62.0					4																	70079789		2201	4298	6499	SO:0001583	missense	10720				estrogen metabolic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	glucuronosyltransferase activity	g.chr4:70079789G>T	AF016492	CCDS3527.1	4q13.3	2008-02-05	2005-07-20		ENSG00000213759	ENSG00000213759		"""UDP glucuronosyltransferases"""	12545	protein-coding gene	gene with protein product		603064	"""UDP glycosyltransferase 2 family, polypeptide B11"""			9675083	Standard	NM_001073		Approved		uc003heh.3	O75310	OTTHUMG00000129395	ENST00000446444.1:c.652C>A	4.37:g.70079789G>T	ENSP00000387683:p.Leu218Ile					uc003hei.1_Intron	p.L218I	NM_001073	NP_001064	O75310	UDB11_HUMAN			1	661	-			218					Q3KNV9	Missense_Mutation	SNP	ENST00000446444.1	37	c.652C>A	CCDS3527.1	.	.	.	.	.	.	.	.	.	.	-	1.631	-0.519104	0.04171	.	.	ENSG00000213759	ENST00000446444	T	0.72505	-0.66	1.96	1.01	0.19927	.	0.335796	0.24254	U	0.040145	T	0.62233	0.2411	L	0.55990	1.75	0.09310	N	1	B	0.18863	0.031	B	0.32724	0.151	T	0.52990	-0.8501	10	0.36615	T	0.2	.	4.6776	0.12719	0.3614:0.0:0.6386:0.0	.	218	O75310	UDB11_HUMAN	I	218	ENSP00000387683:L218I	ENSP00000387683:L218I	L	-	1	0	UGT2B11	70114378	0.000000	0.05858	0.161000	0.22692	0.286000	0.27126	0.048000	0.14078	0.115000	0.18071	0.184000	0.17185	CTT		0.338	UGT2B11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251551.2	NM_001073		31	96	1	0	4.66e-17	5.03e-17	31	96				
TENM2	57451	broad.mit.edu	37	5	167645514	167645514	+	Missense_Mutation	SNP	G	G	C			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr5:167645514G>C	ENST00000518659.1	+	23	4657	c.4618G>C	c.(4618-4620)Gat>Cat	p.D1540H	TENM2_ENST00000519204.1_Missense_Mutation_p.D1419H|TENM2_ENST00000520394.1_Missense_Mutation_p.D1301H|TENM2_ENST00000545108.1_Missense_Mutation_p.D1539H|TENM2_ENST00000403607.2_Missense_Mutation_p.D1364H	NM_001122679.1	NP_001116151.1	Q9NT68	TEN2_HUMAN	teneurin transmembrane protein 2	1540					axon guidance (GO:0007411)|calcium-mediated signaling using intracellular calcium source (GO:0035584)|heterophilic cell-cell adhesion (GO:0007157)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of filopodium assembly (GO:0051491)|self proteolysis (GO:0097264)|signal transduction (GO:0007165)|single organismal cell-cell adhesion (GO:0016337)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cell-cell junction (GO:0005911)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|endoplasmic reticulum (GO:0005783)|filopodium (GO:0030175)|Golgi apparatus (GO:0005794)|growth cone (GO:0030426)|integral component of plasma membrane (GO:0005887)|neuron projection (GO:0043005)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|PML body (GO:0016605)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	cell adhesion molecule binding (GO:0050839)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)										CTACGCGACTGATGCCATCTT	0.498																																						uc010jjd.2		NA																	0				ovary(6)|central_nervous_system(4)	10						c.(4591-4593)GAT>CAT		odz, odd Oz/ten-m homolog 2							192.0	189.0	190.0					5																	167645514		2041	4198	6239	SO:0001583	missense	57451							g.chr5:167645514G>C	AB032953		5q35	2012-10-02	2012-10-02	2012-10-02	ENSG00000145934	ENSG00000145934			29943	protein-coding gene	gene with protein product		610119	"""odz, odd Oz/ten-m homolog 2 (Drosophila)"""	ODZ2		10625539	Standard	NM_001122679		Approved	KIAA1127, Ten-M2	uc010jjd.3	Q9NT68	OTTHUMG00000162928	ENST00000518659.1:c.4618G>C	5.37:g.167645514G>C	ENSP00000429430:p.Asp1540His					ODZ2_uc003lzr.3_Missense_Mutation_p.D1301H|ODZ2_uc003lzt.3_Missense_Mutation_p.D904H|ODZ2_uc010jje.2_Missense_Mutation_p.D795H	p.D1531H	NM_001122679	NP_001116151			Kidney(164;7.53e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)	all cancers(165;0.0444)|OV - Ovarian serous cystadenocarcinoma(192;0.0694)|Epithelial(171;0.124)	23	4591	+	Renal(175;0.00124)|Lung NSC(126;0.136)|all_lung(126;0.242)	Medulloblastoma(196;0.0241)|all_neural(177;0.026)						Q9ULU2	Missense_Mutation	SNP	ENST00000518659.1	37	c.4591G>C		.	.	.	.	.	.	.	.	.	.	G	21.4	4.142896	0.77888	.	.	ENSG00000145934	ENST00000518659;ENST00000545108;ENST00000519204;ENST00000520394;ENST00000403607	D;D;D;D;D	0.90004	-2.13;-2.12;-2.24;-2.57;-2.6	5.95	5.95	0.96441	Six-bladed beta-propeller, TolB-like (1);	0.041485	0.85682	D	0.000000	D	0.94971	0.8373	M	0.80028	2.48	0.80722	D	1	D;D;D	0.89917	1.0;1.0;0.989	D;D;D	0.78314	0.991;0.98;0.912	D	0.94499	0.7708	10	0.62326	D	0.03	.	20.3931	0.98965	0.0:0.0:1.0:0.0	.	1539;1540;1301	F5H2D1;Q9NT68;F8VNQ3	.;TEN2_HUMAN;.	H	1540;1539;1419;1301;1364	ENSP00000429430:D1540H;ENSP00000438635:D1539H;ENSP00000428964:D1419H;ENSP00000427874:D1301H;ENSP00000384905:D1364H	ENSP00000384905:D1364H	D	+	1	0	ODZ2	167578092	1.000000	0.71417	0.825000	0.32803	0.932000	0.56968	9.869000	0.99810	2.824000	0.97209	0.655000	0.94253	GAT		0.498	TENM2-001	KNOWN	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000376096.1	NM_001122679		86	212	0	0	0	0	86	212				
RASGEF1C	255426	broad.mit.edu	37	5	179545821	179545821	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr5:179545821G>T	ENST00000393371.2	-	8	1249	c.953C>A	c.(952-954)gCc>gAc	p.A318D	RASGEF1C_ENST00000361132.4_Missense_Mutation_p.A318D|RASGEF1C_ENST00000519883.1_5'Flank|RASGEF1C_ENST00000522500.1_Missense_Mutation_p.A167D			Q8N431	RGF1C_HUMAN	RasGEF domain family, member 1C	318	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)	intracellular (GO:0005622)	guanyl-nucleotide exchange factor activity (GO:0005085)			breast(1)|kidney(2)|large_intestine(3)|lung(3)|ovary(1)|prostate(1)|stomach(1)	12	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			CCTCACTTTGGCCCAGGTCTT	0.627																																						uc003mlq.2		NA																	0				ovary(1)	1						c.(952-954)GCC>GAC		RasGEF domain family, member 1C							105.0	110.0	108.0					5																	179545821		2203	4300	6503	SO:0001583	missense	255426				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	intracellular	guanyl-nucleotide exchange factor activity	g.chr5:179545821G>T	AK093160	CCDS4452.1	5q35.3	2005-08-16			ENSG00000146090	ENSG00000146090			27400	protein-coding gene	gene with protein product						12477932	Standard	XM_006714839		Approved	FLJ35841	uc003mlr.3	Q8N431	OTTHUMG00000130914	ENST00000393371.2:c.953C>A	5.37:g.179545821G>T	ENSP00000377037:p.Ala318Asp					RASGEF1C_uc003mlr.2_Missense_Mutation_p.A318D|RASGEF1C_uc003mlp.3_Missense_Mutation_p.A167D	p.A318D	NM_175062	NP_778232	Q8N431	RGF1C_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		8	1250	-	all_cancers(89;3.44e-05)|all_epithelial(37;1.22e-05)|Renal(175;0.000269)|Lung NSC(126;0.00199)|all_lung(126;0.00351)|Breast(19;0.137)	all_cancers(40;0.0242)|Medulloblastoma(196;0.00498)|all_neural(177;0.0137)	318			Ras-GEF.		D3DWQ7|Q7Z4T0|Q8NA49	Missense_Mutation	SNP	ENST00000393371.2	37	c.953C>A	CCDS4452.1	.	.	.	.	.	.	.	.	.	.	G	15.22	2.768996	0.49680	.	.	ENSG00000146090	ENST00000361132;ENST00000393371;ENST00000522500	T;T;T	0.30448	1.53;1.53;1.53	3.76	3.76	0.43208	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.217626	0.41605	D	0.000860	T	0.25791	0.0628	N	0.11000	0.08	0.40834	D	0.983614	B	0.27229	0.172	B	0.43155	0.41	T	0.20505	-1.0273	10	0.21540	T	0.41	.	15.0457	0.71825	0.0:0.0:1.0:0.0	.	318	Q8N431	RGF1C_HUMAN	D	318;318;167	ENSP00000354963:A318D;ENSP00000377037:A318D;ENSP00000429114:A167D	ENSP00000354963:A318D	A	-	2	0	RASGEF1C	179478427	1.000000	0.71417	1.000000	0.80357	0.652000	0.38707	5.259000	0.65485	2.043000	0.60533	0.313000	0.20887	GCC		0.627	RASGEF1C-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253506.2	NM_175062		52	87	1	0	3.17e-08	3.32e-08	52	87				
KCNK16	83795	broad.mit.edu	37	6	39284101	39284101	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr6:39284101C>T	ENST00000373229.5	-	5	792	c.779G>A	c.(778-780)aGa>aAa	p.R260K	KCNK16_ENST00000437525.2_Missense_Mutation_p.R260K|KCNK17_ENST00000373231.4_5'Flank|KCNK16_ENST00000425054.2_Intron|KCNK16_ENST00000373227.4_Intron|KCNK17_ENST00000453413.2_5'Flank|KCNK16_ENST00000507712.1_Intron	NM_032115.3	NP_115491.1	Q96T55	KCNKG_HUMAN	potassium channel, subfamily K, member 16	260					potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel activity (GO:0005267)|voltage-gated ion channel activity (GO:0005244)			large_intestine(1)|lung(7)|ovary(2)|prostate(1)|skin(2)	13						CTGGCAGCATCTGTGCAGAAG	0.637																																						uc003ooq.2		NA																	0				ovary(2)|skin(1)	3						c.(778-780)AGA>AAA		potassium channel, subfamily K, member 16							18.0	20.0	19.0					6																	39284101		2201	4299	6500	SO:0001583	missense	83795					integral to membrane	potassium channel activity|voltage-gated ion channel activity	g.chr6:39284101C>T	AF358909	CCDS4843.1, CCDS47420.1, CCDS47421.1, CCDS47422.1	6p21.2-p21.1	2012-03-07			ENSG00000095981	ENSG00000095981		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels, Two-P"""	14464	protein-coding gene	gene with protein product		607369				11263999, 16382106	Standard	NM_032115		Approved	K2p16.1, TALK-1, TALK1	uc003ooq.3	Q96T55	OTTHUMG00000014645	ENST00000373229.5:c.779G>A	6.37:g.39284101C>T	ENSP00000362326:p.Arg260Lys					KCNK17_uc003ooo.2_5'Flank|KCNK17_uc003oop.2_5'Flank|KCNK16_uc003oor.3_Intron|KCNK16_uc010jwy.2_Intron|KCNK16_uc011dtz.1_Missense_Mutation_p.R260K	p.R260K	NM_032115	NP_115491	Q96T55	KCNKG_HUMAN			5	793	-			260			Cytoplasmic (Potential).		B5TJL9|Q2M2N9|Q5TCF3|Q6X6Z3|Q6X6Z4|Q6X6Z5|Q9H591	Missense_Mutation	SNP	ENST00000373229.5	37	c.779G>A	CCDS4843.1	.	.	.	.	.	.	.	.	.	.	C	11.96	1.795293	0.31777	.	.	ENSG00000095981	ENST00000373229;ENST00000437525	T;T	0.18657	2.58;2.2	4.87	3.98	0.46160	.	.	.	.	.	T	0.04227	0.0117	L	0.32530	0.975	0.24936	N	0.991888	B;B	0.17852	0.009;0.024	B;B	0.15870	0.003;0.014	T	0.41395	-0.9511	9	0.08837	T	0.75	.	5.1859	0.15184	0.0:0.6993:0.0:0.3007	.	260;260	B5TJL9;Q96T55	.;KCNKG_HUMAN	K	260	ENSP00000362326:R260K;ENSP00000415375:R260K	ENSP00000362326:R260K	R	-	2	0	KCNK16	39392079	0.728000	0.28080	1.000000	0.80357	0.959000	0.62525	0.993000	0.29680	2.406000	0.81754	0.462000	0.41574	AGA		0.637	KCNK16-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000040452.2	NM_032115		10	20	0	0	0	0	10	20				
RAC1	5879	broad.mit.edu	37	7	6426860	6426860	+	Missense_Mutation	SNP	G	G	T			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr7:6426860G>T	ENST00000348035.4	+	2	266	c.53G>T	c.(52-54)tGc>tTc	p.C18F	RAC1_ENST00000356142.4_Missense_Mutation_p.C18F|RAC1_ENST00000488373.1_3'UTR	NM_006908.4	NP_008839.2	P63000	RAC1_HUMAN	ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	18					actin cytoskeleton organization (GO:0030036)|actin filament polymerization (GO:0030041)|anatomical structure arrangement (GO:0048532)|anatomical structure morphogenesis (GO:0009653)|apoptotic signaling pathway (GO:0097190)|auditory receptor cell morphogenesis (GO:0002093)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|bone resorption (GO:0045453)|cell adhesion (GO:0007155)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|cell-cell junction organization (GO:0045216)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|cerebral cortex radially oriented cell migration (GO:0021799)|cochlea morphogenesis (GO:0090103)|dendrite morphogenesis (GO:0048813)|dopaminergic neuron differentiation (GO:0071542)|embryonic olfactory bulb interneuron precursor migration (GO:0021831)|engulfment of apoptotic cell (GO:0043652)|epithelial cell morphogenesis (GO:0003382)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G-protein coupled receptor signaling pathway (GO:0007186)|hyperosmotic response (GO:0006972)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|mast cell chemotaxis (GO:0002551)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of receptor-mediated endocytosis (GO:0048261)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA replication (GO:0045740)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein localization to plasma membrane (GO:0072659)|regulation of cell migration (GO:0030334)|regulation of defense response to virus by virus (GO:0050690)|regulation of hydrogen peroxide metabolic process (GO:0010310)|regulation of respiratory burst (GO:0060263)|response to wounding (GO:0009611)|ruffle assembly (GO:0097178)|ruffle organization (GO:0031529)|semaphorin-plexin signaling pathway (GO:0071526)|small GTPase mediated signal transduction (GO:0007264)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell costimulation (GO:0031295)|viral process (GO:0016032)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|lamellipodium (GO:0030027)|membrane (GO:0016020)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GDP-dissociation inhibitor binding (GO:0051022)|thioesterase binding (GO:0031996)			cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Dextromethorphan(DB00514)	GGTAAAACTTGCCTACTGATC	0.338																																						uc003spx.2		NA																	0				lung(2)	2						c.(52-54)TGC>TTC		ras-related C3 botulinum toxin substrate 1	Pravastatin(DB00175)|Simvastatin(DB00641)						118.0	116.0	117.0					7																	6426860		2203	4299	6502	SO:0001583	missense	5879				actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding	g.chr7:6426860G>T	AJ132695	CCDS5348.1, CCDS5349.1	7p22	2014-01-30			ENSG00000136238	ENSG00000136238		"""Endogenous ligands"""	9801	protein-coding gene	gene with protein product		602048				2674130, 10597294	Standard	NM_006908		Approved	TC-25, p21-Rac1, Rac-1	uc003spw.3	P63000	OTTHUMG00000023540	ENST00000348035.4:c.53G>T	7.37:g.6426860G>T	ENSP00000258737:p.Cys18Phe					RAC1_uc003spw.2_Missense_Mutation_p.C18F	p.C18F	NM_006908	NP_008839	P63000	RAC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	2	294	+		Ovarian(82;0.0776)	18					O95501|P15154|Q3Y4D3|Q5JAA8|Q9BTB4	Missense_Mutation	SNP	ENST00000348035.4	37	c.53G>T	CCDS5348.1	.	.	.	.	.	.	.	.	.	.	G	26.5	4.740366	0.89573	.	.	ENSG00000136238	ENST00000348035;ENST00000356142	T;T	0.70631	-0.5;-0.5	6.05	6.05	0.98169	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.91486	0.7312	H	0.98918	4.37	0.80722	D	1	P;D	0.89917	0.559;1.0	P;D	0.80764	0.52;0.994	D	0.94069	0.7333	10	0.87932	D	0	.	20.2117	0.98287	0.0:0.0:1.0:0.0	.	18;18	P63000;A4D2P0	RAC1_HUMAN;.	F	18	ENSP00000258737:C18F;ENSP00000348461:C18F	ENSP00000258737:C18F	C	+	2	0	RAC1	6393385	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	9.611000	0.98342	2.878000	0.98634	0.650000	0.86243	TGC		0.338	RAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242868.2	NM_018890		38	115	1	0	1.16e-17	1.26e-17	38	115				
DBNL	28988	broad.mit.edu	37	7	44098509	44098509	+	Silent	SNP	C	C	T	rs148365536	byFrequency	TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr7:44098509C>T	ENST00000448521.1	+	9	860	c.762C>T	c.(760-762)gcC>gcT	p.A254A	DBNL_ENST00000497184.1_3'UTR|DBNL_ENST00000468694.1_Silent_p.A263A|DBNL_ENST00000440166.1_Silent_p.A151A|DBNL_ENST00000494774.1_Silent_p.A255A|DBNL_ENST00000490734.2_Silent_p.A160A|DBNL_ENST00000452943.1_Silent_p.A230A|DBNL_ENST00000456905.1_Silent_p.A206A	NM_001014436.2	NP_001014436.1	Q9UJU6	DBNL_HUMAN	drebrin-like	254					activation of JUN kinase activity (GO:0007257)|apoptotic process (GO:0006915)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|endocytosis (GO:0006897)|immune system process (GO:0002376)|neuron projection morphogenesis (GO:0048812)|podosome assembly (GO:0071800)|Rac protein signal transduction (GO:0016601)|synapse assembly (GO:0007416)	cell cortex (GO:0005938)|cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|lamellipodium (GO:0030027)|plasma membrane (GO:0005886)|podosome (GO:0002102)|postsynaptic density (GO:0014069)|ruffle (GO:0001726)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|enzyme activator activity (GO:0008047)			breast(1)|large_intestine(3)|lung(5)|ovary(1)|skin(1)|stomach(1)	12						AGGAGTCTGCCGTGCACCCGA	0.612													C|||	6	0.00119808	0.0045	0.0	5008	,	,		17867	0.0		0.0	False		,,,				2504	0.0				NSCLC(68;573 1327 18604 34760 37992)	uc003tjp.3		NA																	0				skin(1)	1						c.(760-762)GCC>GCT		drebrin-like isoform b		C	,,	12,4394	19.1+/-41.9	0,12,2191	96.0	87.0	90.0		762,789,765	-3.1	0.0	7	dbSNP_134	90	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous,coding-synonymous	DBNL	NM_001014436.2,NM_001122956.1,NM_014063.6	,,	0,12,6491	TT,TC,CC		0.0,0.2724,0.0923	,,	254/431,263/440,255/432	44098509	12,12994	2203	4300	6503	SO:0001819	synonymous_variant	28988				activation of JUN kinase activity|cellular component disassembly involved in apoptosis|endocytosis|Rac protein signal transduction	cell cortex|cytoskeleton|cytosol|lamellipodium	actin binding|enzyme activator activity|identical protein binding	g.chr7:44098509C>T	AF151364	CCDS34622.1, CCDS34623.1, CCDS47579.1, CCDS64633.1, CCDS64634.1	7p13	2004-07-22			ENSG00000136279	ENSG00000136279			2696	protein-coding gene	gene with protein product		610106				10087302	Standard	NM_014063		Approved	SH3P7, HIP-55	uc003tjq.4	Q9UJU6	OTTHUMG00000155350	ENST00000448521.1:c.762C>T	7.37:g.44098509C>T						DBNL_uc003tjn.2_Silent_p.A126A|DBNL_uc003tjo.3_Silent_p.A255A|DBNL_uc003tjr.3_Silent_p.A127A|DBNL_uc003tjq.3_Silent_p.A263A|DBNL_uc011kbm.1_Silent_p.A230A|DBNL_uc011kbn.1_Silent_p.A151A|DBNL_uc011kbo.1_Silent_p.A155A|DBNL_uc011kbp.1_Silent_p.A206A|DBNL_uc011kbq.1_Silent_p.A179A|DBNL_uc011kbr.1_Silent_p.A203A|DBNL_uc011kbs.1_Silent_p.A159A	p.A254A	NM_001014436	NP_001014436	Q9UJU6	DBNL_HUMAN			9	860	+			254					A4D2I9|B4DEM2|C9J7P1|P84070|Q6IAI8|Q96F30|Q96K74|Q9HBN8|Q9NR72	Silent	SNP	ENST00000448521.1	37	c.762C>T	CCDS34623.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	C	5.467	0.271212	0.10349	0.002724	0.0	ENSG00000136279	ENST00000432854	.	.	.	5.67	-3.12	0.05282	.	.	.	.	.	T	0.17704	0.0425	.	.	.	0.09310	N	0.999998	.	.	.	.	.	.	T	0.25882	-1.0119	4	.	.	.	0.0102	0.8324	0.01133	0.341:0.2014:0.1008:0.3569	.	.	.	.	C	183	.	.	R	+	1	0	DBNL	44065034	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-2.508000	0.00960	-0.424000	0.07382	-0.143000	0.13931	CGT		0.612	DBNL-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000339572.2	NM_014063		29	49	0	0	0	0	29	49				
COL1A2	1278	broad.mit.edu	37	7	94057678	94057678	+	Silent	SNP	C	C	T			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr7:94057678C>T	ENST00000297268.6	+	50	4071	c.3600C>T	c.(3598-3600)ggC>ggT	p.G1200G		NM_000089.3	NP_000080.2	P08123	CO1A2_HUMAN	collagen, type I, alpha 2	1200	Fibrillar collagen NC1. {ECO:0000255|PROSITE-ProRule:PRU00793}.				blood coagulation (GO:0007596)|blood vessel development (GO:0001568)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|leukocyte migration (GO:0050900)|odontogenesis (GO:0042476)|platelet activation (GO:0030168)|protein heterotrimerization (GO:0070208)|regulation of blood pressure (GO:0008217)|Rho protein signal transduction (GO:0007266)|skeletal system development (GO:0001501)|skin morphogenesis (GO:0043589)|transforming growth factor beta receptor signaling pathway (GO:0007179)	collagen type I trimer (GO:0005584)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	extracellular matrix structural constituent (GO:0005201)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)|protein binding, bridging (GO:0030674)		COL1A2/PLAG1(3)	NS(2)|breast(2)|central_nervous_system(4)|cervix(1)|endometrium(6)|kidney(8)|large_intestine(21)|lung(51)|ovary(2)|prostate(1)|skin(7)|stomach(1)|upper_aerodigestive_tract(8)|urinary_tract(1)	115	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		STAD - Stomach adenocarcinoma(171;0.0031)		Collagenase(DB00048)	TCTCTACTGGCGAAACCTGTA	0.428										HNSCC(75;0.22)																												uc003ung.1		NA																COL1A2/PLAG1(3)	0				soft_tissue(3)|central_nervous_system(3)|ovary(2)|skin(1)	9						c.(3598-3600)GGC>GGT		alpha 2 type I collagen precursor	Collagenase(DB00048)						141.0	135.0	137.0					7																	94057678		2203	4300	6503	SO:0001819	synonymous_variant	1278				axon guidance|blood vessel development|collagen fibril organization|leukocyte migration|odontogenesis|platelet activation|regulation of blood pressure|Rho protein signal transduction|skeletal system development|skin morphogenesis|transforming growth factor beta receptor signaling pathway	collagen type I|extracellular space|plasma membrane	extracellular matrix structural constituent|identical protein binding|platelet-derived growth factor binding|protein binding, bridging	g.chr7:94057678C>T	Z74616	CCDS34682.1	7q21.3	2014-09-17	2002-02-13		ENSG00000164692	ENSG00000164692		"""Collagens"""	2198	protein-coding gene	gene with protein product	"""alpha 2(I)-collagen"", ""alpha-2 collagen type I"", ""type I procollagen"", ""collagen I, alpha-2 polypeptide"", ""collagen of skin, tendon and bone, alpha-2 chain"""	120160	"""osteogenesis imperfecta type IV"""	OI4		3857213, 2897363	Standard	NM_000089		Approved		uc003ung.1	P08123	OTTHUMG00000148675	ENST00000297268.6:c.3600C>T	7.37:g.94057678C>T		HNSCC(75;0.22)				COL1A2_uc011kib.1_Intron	p.G1200G	NM_000089	NP_000080	P08123	CO1A2_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		50	4071	+	all_cancers(62;2.46e-09)|all_epithelial(64;2.7e-08)		1200			Fibrillar collagen NC1.		P02464|Q13897|Q13997|Q13998|Q14038|Q14057|Q15177|Q15947|Q16480|Q16511|Q7Z5S6|Q9UEB6|Q9UEF9|Q9UM83|Q9UMI1|Q9UML5|Q9UMM6|Q9UPH0	Silent	SNP	ENST00000297268.6	37	c.3600C>T	CCDS34682.1																																																																																				0.428	COL1A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000309045.2	NM_000089		65	152	0	0	0	0	65	152				
ZFAND5	7763	broad.mit.edu	37	9	74975552	74975552	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr9:74975552C>T	ENST00000237937.3	-	2	700	c.143G>A	c.(142-144)aGc>aAc	p.S48N	ZFAND5_ENST00000343431.2_Missense_Mutation_p.S48N|ZFAND5_ENST00000376962.5_Missense_Mutation_p.S48N|ZFAND5_ENST00000488164.1_5'UTR|ZFAND5_ENST00000376960.4_Missense_Mutation_p.S48N	NM_001102421.1|NM_001278243.1|NM_001278244.1|NM_001278245.1|NM_006007.2	NP_001095891.1|NP_001265172.1|NP_001265173.1|NP_001265174.1|NP_005998.1	O76080	ZFAN5_HUMAN	zinc finger, AN1-type domain 5	48					face development (GO:0060324)|fibroblast migration (GO:0010761)|in utero embryonic development (GO:0001701)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|respiratory system process (GO:0003016)|skeletal system morphogenesis (GO:0048705)|smooth muscle tissue development (GO:0048745)|vasculature development (GO:0001944)	cytoplasm (GO:0005737)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			cervix(1)|kidney(2)|lung(2)|prostate(1)	6						ACCCATTGGGCTCATTCTGCC	0.413																																						uc004aiv.2		NA																	0					0						c.(142-144)AGC>AAC		zinc finger, AN1-type domain 5							169.0	168.0	169.0					9																	74975552		2203	4299	6502	SO:0001583	missense	7763						DNA binding|zinc ion binding	g.chr9:74975552C>T	AF062072	CCDS6642.1	9q13-q21	2008-05-02	2006-07-07	2006-07-07	ENSG00000107372	ENSG00000107372		"""Zinc fingers, AN1-type domain containing"""	13008	protein-coding gene	gene with protein product		604761	"""zinc finger protein 216"", ""zinc finger, A20 domain containing 2"""	ZNF216, ZA20D2		9758550	Standard	NM_001278243		Approved	ZFAND5A	uc004aiy.2	O76080	OTTHUMG00000020008	ENST00000237937.3:c.143G>A	9.37:g.74975552C>T	ENSP00000237937:p.Ser48Asn					ZFAND5_uc010mox.1_5'Flank|ZFAND5_uc010moy.1_Missense_Mutation_p.S48N|ZFAND5_uc004aix.2_Missense_Mutation_p.S48N|ZFAND5_uc004aiw.2_Missense_Mutation_p.S48N|ZFAND5_uc004aiy.2_Missense_Mutation_p.S48N	p.S48N	NM_006007	NP_005998	O76080	ZFAN5_HUMAN			2	421	-			48					A8K484	Missense_Mutation	SNP	ENST00000237937.3	37	c.143G>A	CCDS6642.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.889805	0.91889	.	.	ENSG00000107372	ENST00000237937;ENST00000376960;ENST00000376962;ENST00000343431;ENST00000376956	.	.	.	6.04	6.04	0.98038	.	0.206543	0.64402	D	0.000011	T	0.79040	0.4379	M	0.74881	2.28	0.80722	D	1	D	0.67145	0.996	P	0.62649	0.905	T	0.77512	-0.2560	9	0.49607	T	0.09	-9.985	20.5948	0.99439	0.0:1.0:0.0:0.0	.	48	O76080	ZFAN5_HUMAN	N	48;48;48;48;100	.	ENSP00000237937:S48N	S	-	2	0	ZFAND5	74165372	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.514000	0.81750	2.873000	0.98535	0.563000	0.77884	AGC		0.413	ZFAND5-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052644.1			117	244	0	0	0	0	117	244				
SH2D3C	10044	broad.mit.edu	37	9	130504111	130504111	+	Missense_Mutation	SNP	T	T	C			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr9:130504111T>C	ENST00000314830.8	-	9	2157	c.2044A>G	c.(2044-2046)Atg>Gtg	p.M682V	SH2D3C_ENST00000373277.4_Missense_Mutation_p.M525V|SH2D3C_ENST00000373276.3_Missense_Mutation_p.M614V|SH2D3C_ENST00000373274.3_Missense_Mutation_p.M522V|SH2D3C_ENST00000471939.1_5'Flank|SH2D3C_ENST00000429553.1_Missense_Mutation_p.M328V|SH2D3C_ENST00000420366.1_Missense_Mutation_p.M524V	NM_170600.2	NP_733745.1	Q8N5H7	SH2D3_HUMAN	SH2 domain containing 3C	682	Ras-GEF. {ECO:0000255|PROSITE- ProRule:PRU00168}.				JNK cascade (GO:0007254)|positive regulation of signal transduction (GO:0009967)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|membrane (GO:0016020)	guanyl-nucleotide exchange factor activity (GO:0005085)|SH3/SH2 adaptor activity (GO:0005070)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(16)|ovary(1)|pancreas(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	28						AAGCTGAACATGTTGCCCATA	0.672																																						uc004bsc.2		NA																	0				ovary(1)	1						c.(2044-2046)ATG>GTG		SH2 domain containing 3C isoform a							44.0	40.0	42.0					9																	130504111		2203	4300	6503	SO:0001583	missense	10044				JNK cascade|small GTPase mediated signal transduction	cytoplasm|membrane	guanyl-nucleotide exchange factor activity|SH3/SH2 adaptor activity	g.chr9:130504111T>C	AF124251	CCDS6877.1, CCDS6878.1, CCDS48026.1, CCDS48028.1, CCDS59145.1	9q33.1-q33.3	2013-02-14	2002-01-14		ENSG00000095370	ENSG00000095370		"""SH2 domain containing"""	16884	protein-coding gene	gene with protein product		604722	"""SH2 domain-containing 3C"""			10187783	Standard	NM_170600		Approved	NSP3	uc004bsc.3	Q8N5H7	OTTHUMG00000020717	ENST00000314830.8:c.2044A>G	9.37:g.130504111T>C	ENSP00000317817:p.Met682Val					SH2D3C_uc010mxo.2_Missense_Mutation_p.M522V|SH2D3C_uc004bry.2_Missense_Mutation_p.M524V|SH2D3C_uc004brz.3_Missense_Mutation_p.M328V|SH2D3C_uc011mak.1_Missense_Mutation_p.M328V|SH2D3C_uc004bsa.2_Missense_Mutation_p.M525V|SH2D3C_uc004bsb.2_Missense_Mutation_p.M614V	p.M682V	NM_170600	NP_733745	Q8N5H7	SH2D3_HUMAN			9	2186	-			682			Ras-GEF.		A8K5S8|E9PG48|Q5HYE5|Q5JU31|Q6UY42|Q8N6X3|Q9Y2X5	Missense_Mutation	SNP	ENST00000314830.8	37	c.2044A>G	CCDS6877.1	.	.	.	.	.	.	.	.	.	.	T	12.81	2.048206	0.36181	.	.	ENSG00000095370	ENST00000373277;ENST00000420366;ENST00000373276;ENST00000373274;ENST00000429553;ENST00000314830	T;T;T;T;T;T	0.31769	1.48;1.48;1.48;1.59;1.48;1.61	5.93	5.93	0.95920	Guanine-nucleotide dissociation stimulator CDC25 (4);Ras guanine nucleotide exchange factor, domain (1);	0.070132	0.85682	D	0.000000	T	0.26159	0.0638	L	0.35414	1.06	0.58432	D	0.999999	P;P;B;B;P	0.40266	0.657;0.71;0.127;0.055;0.605	B;B;B;B;B	0.37091	0.186;0.241;0.069;0.023;0.117	T	0.03545	-1.1026	10	0.54805	T	0.06	-12.6791	15.2015	0.73142	0.0:0.0:0.0:1.0	.	522;682;614;525;524	E9PG48;Q8N5H7;E7EUN5;Q8N5H7-2;Q8N5H7-5	.;SH2D3_HUMAN;.;.;.	V	525;524;614;522;328;682	ENSP00000362374:M525V;ENSP00000388536:M524V;ENSP00000362373:M614V;ENSP00000362371:M522V;ENSP00000394632:M328V;ENSP00000317817:M682V	ENSP00000317817:M682V	M	-	1	0	SH2D3C	129543932	1.000000	0.71417	1.000000	0.80357	0.190000	0.23558	5.843000	0.69424	2.265000	0.75225	0.460000	0.39030	ATG		0.672	SH2D3C-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054264.1	NM_005489		14	36	0	0	0	0	14	36				
PTGES2	80142	broad.mit.edu	37	9	130886072	130886072	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr9:130886072C>T	ENST00000338961.6	-	4	1339	c.595G>A	c.(595-597)Ggc>Agc	p.G199S	PTGES2_ENST00000483625.1_5'UTR|PTGES2_ENST00000277462.5_Missense_Mutation_p.G8S	NM_001256335.1|NM_025072.6	NP_001243264.1|NP_079348.1	Q9H7Z7	PGES2_HUMAN	prostaglandin E synthase 2	199					cell redox homeostasis (GO:0045454)|positive regulation of transcription, DNA-templated (GO:0045893)|prostaglandin biosynthetic process (GO:0001516)|secretion (GO:0046903)	cytosol (GO:0005829)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	DNA binding (GO:0003677)|electron carrier activity (GO:0009055)|glutathione binding (GO:0043295)|heme binding (GO:0020037)|lyase activity (GO:0016829)|prostaglandin-E synthase activity (GO:0050220)|protein disulfide oxidoreductase activity (GO:0015035)			endometrium(1)|large_intestine(1)|lung(2)	4						ACCTCCTTGCCCTGCTCGTTC	0.577																																						uc004bti.2		NA																	0					0						c.(595-597)GGC>AGC		prostaglandin E synthase 2							167.0	119.0	135.0					9																	130886072		2203	4300	6503	SO:0001583	missense	80142				cell redox homeostasis|prostaglandin biosynthetic process	Golgi membrane|integral to membrane|mitochondrion|perinuclear region of cytoplasm	electron carrier activity|prostaglandin-E synthase activity|protein binding|protein disulfide oxidoreductase activity	g.chr9:130886072C>T	AK024100	CCDS6891.1	9q34.12	2008-05-06	2002-06-13	2002-06-14	ENSG00000148334	ENSG00000148334			17822	protein-coding gene	gene with protein product		608152	"""chromosome 9 open reading frame 15"""	C9orf15		11866447	Standard	NM_025072		Approved	FLJ14038	uc004bti.4	Q9H7Z7	OTTHUMG00000020730	ENST00000338961.6:c.595G>A	9.37:g.130886072C>T	ENSP00000345341:p.Gly199Ser					PTGES2_uc004btj.2_RNA|PTGES2_uc004btk.2_Missense_Mutation_p.G8S|PTGES2_uc004btl.2_Missense_Mutation_p.G8S|PTGES2_uc004btm.2_RNA	p.G199S	NM_025072	NP_079348	Q9H7Z7	PGES2_HUMAN			4	1073	-			199			Cytoplasmic (Potential).		Q53EW9|Q5SYV6|Q96GI0|Q96GL2	Missense_Mutation	SNP	ENST00000338961.6	37	c.595G>A	CCDS6891.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.871625	0.91587	.	.	ENSG00000148334	ENST00000338961;ENST00000277462;ENST00000449878	T;T;T	0.57107	2.6;0.42;2.6	5.84	5.84	0.93424	Thioredoxin-like fold (1);	0.000000	0.85682	D	0.000000	T	0.74390	0.3710	M	0.77103	2.36	0.80722	D	1	D	0.89917	1.0	D	0.72075	0.976	T	0.75074	-0.3446	10	0.56958	D	0.05	0.2918	19.116	0.93340	0.0:1.0:0.0:0.0	.	199	Q9H7Z7	PGES2_HUMAN	S	199;8;164	ENSP00000345341:G199S;ENSP00000277462:G8S;ENSP00000411378:G164S	ENSP00000277462:G8S	G	-	1	0	PTGES2	129925893	1.000000	0.71417	1.000000	0.80357	0.483000	0.33249	7.487000	0.81328	2.768000	0.95171	0.561000	0.74099	GGC		0.577	PTGES2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054339.1			24	70	0	0	0	0	24	70				
IL3RA	3563	broad.mit.edu	37	X	1471026	1471026	+	Missense_Mutation	SNP	C	C	T			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chrX:1471026C>T	ENST00000331035.4	+	5	681	c.332C>T	c.(331-333)aCc>aTc	p.T111I	IL3RA_ENST00000381469.2_Missense_Mutation_p.T33I	NM_001267713.1|NM_002183.3	NP_001254642.1|NP_002174.1	P26951	IL3RA_HUMAN	interleukin 3 receptor, alpha (low affinity)	111					cellular response to interleukin-3 (GO:0036016)|interleukin-3-mediated signaling pathway (GO:0038156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	interleukin-3 receptor activity (GO:0004912)			lung(1)|skin(2)	3		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)			Sargramostim(DB00020)	GAGAATCTGACCTGCTGGATT	0.617																																						uc004cps.2		NA																	0				skin(2)|lung(1)	3						c.(331-333)ACC>ATC		interleukin 3 receptor, alpha precursor	Sargramostim(DB00020)						131.0	148.0	142.0					X																	1471026		2201	4295	6496	SO:0001583	missense	3563					integral to membrane|plasma membrane	interleukin-3 receptor activity	g.chrX:1471026C>T	M74782	CCDS14113.1, CCDS59158.1	Xp22.3 and Yp13.3	2008-07-21			ENSG00000185291	ENSG00000185291		"""Pseudoautosomal regions / PAR1"", ""Interleukins and interleukin receptors"", ""CD molecules"""	6012	protein-coding gene	gene with protein product		308385, 430000				1833064	Standard	NM_002183		Approved	CD123	uc004cps.3	P26951	OTTHUMG00000021059	ENST00000331035.4:c.332C>T	X.37:g.1471026C>T	ENSP00000327890:p.Thr111Ile					IL3RA_uc011mhd.1_Missense_Mutation_p.T33I	p.T111I	NM_002183	NP_002174	P26951	IL3RA_HUMAN			5	681	+		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	111			Extracellular (Potential).		A8K3F3|B9VI81|Q5HYQ7|Q5HYQ8|Q9UEH7	Missense_Mutation	SNP	ENST00000331035.4	37	c.332C>T	CCDS14113.1	.	.	.	.	.	.	.	.	.	.	.	11.01	1.512350	0.27036	.	.	ENSG00000185291	ENST00000331035;ENST00000432757;ENST00000381469	D;D;D	0.96651	-1.84;-1.84;-4.08	1.88	-0.581	0.11713	Interleukin-6 receptor alpha chain, binding (1);Fibronectin, type III (1);Immunoglobulin-like fold (1);	4.022440	0.01602	U	0.022117	D	0.96639	0.8903	L	0.52905	1.665	0.09310	N	1	D;D	0.65815	0.96;0.995	P;P	0.60789	0.737;0.879	D	0.87487	0.2424	10	0.48119	T	0.1	-22.0654	5.7118	0.17938	0.5606:0.4394:0.0:0.0	.	32;111	P26951-2;P26951	.;IL3RA_HUMAN	I	111;33;33	ENSP00000327890:T111I;ENSP00000414867:T33I;ENSP00000370878:T33I	ENSP00000327890:T111I	T	+	2	0	IL3RA	1431026	0.002000	0.14202	0.002000	0.10522	0.007000	0.05969	-0.601000	0.05687	-0.492000	0.06687	0.365000	0.22127	ACC		0.617	IL3RA-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055600.3			25	37	0	0	0	0	25	37				
ZNF449	203523	broad.mit.edu	37	X	134494851	134494851	+	Silent	SNP	G	G	A			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chrX:134494851G>A	ENST00000339249.4	+	5	1547	c.1407G>A	c.(1405-1407)ggG>ggA	p.G469G		NM_152695.5	NP_689908.3	Q6P9G9	ZN449_HUMAN	zinc finger protein 449	469					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(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(6)|ovary(2)|prostate(1)|skin(1)	23	Acute lymphoblastic leukemia(192;6.56e-05)					ATTATTGTGGGAAAAGTTTTA	0.388																																						uc004eys.2		NA																	0				ovary(2)	2						c.(1405-1407)GGG>GGA		zinc finger protein 449							112.0	111.0	111.0					X																	134494851		2203	4299	6502	SO:0001819	synonymous_variant	203523				viral reproduction	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chrX:134494851G>A	AY280801	CCDS14649.1	Xq26.3	2013-01-09			ENSG00000173275	ENSG00000173275		"""-"", ""Zinc fingers, C2H2-type"""	21039	protein-coding gene	gene with protein product		300627					Standard	NM_152695		Approved	ZSCAN19, FLJ23614	uc004eys.3	Q6P9G9	OTTHUMG00000022478	ENST00000339249.4:c.1407G>A	X.37:g.134494851G>A						ZNF449_uc004eyt.2_Silent_p.G349G|ZNF449_uc004eyu.2_Silent_p.G275G	p.G469G	NM_152695	NP_689908	Q6P9G9	ZN449_HUMAN			5	1572	+	Acute lymphoblastic leukemia(192;6.56e-05)		469			C2H2-type 6.		Q5JRZ7|Q5JRZ8|Q6NZX2|Q8N3Q1|Q8TED7	Silent	SNP	ENST00000339249.4	37	c.1407G>A	CCDS14649.1																																																																																				0.388	ZNF449-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058411.1	NM_152695		91	54	0	0	0	0	91	54				
USP9Y	8287	broad.mit.edu	37	Y	14885611	14885611	+	Missense_Mutation	SNP	C	C	G			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chrY:14885611C>G	ENST00000338981.3	+	17	3028	c.2083C>G	c.(2083-2085)Cgt>Ggt	p.R695G	USP9Y_ENST00000426564.2_3'UTR	NM_004654.3	NP_004645.2	O00507	USP9Y_HUMAN	ubiquitin specific peptidase 9, Y-linked	695					BMP signaling pathway (GO:0030509)|protein deubiquitination (GO:0016579)|spermatogenesis (GO:0007283)|transforming growth factor beta receptor signaling pathway (GO:0007179)|ubiquitin-dependent protein catabolic process (GO:0006511)	cytoplasm (GO:0005737)	co-SMAD binding (GO:0070410)|cysteine-type peptidase activity (GO:0008234)|ubiquitin-specific protease activity (GO:0004843)			kidney(1)|large_intestine(8)|lung(5)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						TCTTTGTGATCGTGAAGCCTG	0.398																																						uc004fst.1		NA																	0					0						c.(2083-2085)CGT>GGT		ubiquitin specific protease 9, Y-linked																																				SO:0001583	missense	8287				BMP signaling pathway|protein deubiquitination|spermatogenesis|transforming growth factor beta receptor signaling pathway|ubiquitin-dependent protein catabolic process	cytoplasm	co-SMAD binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chrY:14885611C>G	Y13618	CCDS14781.1	Yq11.2	2010-04-09	2009-03-17		ENSG00000114374	ENSG00000114374		"""Ubiquitin-specific peptidases"""	12633	protein-coding gene	gene with protein product	"""fat facets-like homolog (Drosophila)"""	400005	"""ubiquitin specific peptidase 9, Y-linked (fat facets-like, Drosophila)"""			8922996, 9384609, 19246359	Standard	NM_004654		Approved	DFFRY	uc004fst.1	O00507	OTTHUMG00000036469	ENST00000338981.3:c.2083C>G	Y.37:g.14885611C>G	ENSP00000342812:p.Arg695Gly					USP9Y_uc010nwu.1_RNA	p.R695G	NM_004654	NP_004645	O00507	USP9Y_HUMAN			17	3028	+			695					O14601	Missense_Mutation	SNP	ENST00000338981.3	37	c.2083C>G	CCDS14781.1																																																																																				0.398	USP9Y-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088703.2	NM_004654		76	36	0	0	0	0	76	36				
TRAF3	7187	broad.mit.edu	37	14	103352585	103352585	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr14:103352585delC	ENST00000560371.1	+	6	847	c.630delC	c.(628-630)gtcfs	p.V210fs	TRAF3_ENST00000539721.1_Intron|TRAF3_ENST00000347662.4_Frame_Shift_Del_p.V210fs|TRAF3_ENST00000392745.2_Frame_Shift_Del_p.V210fs|TRAF3_ENST00000351691.5_Frame_Shift_Del_p.V210fs	NM_003300.3|NM_145725.2	NP_003291.2|NP_663777.1	Q13114	TRAF3_HUMAN	TNF receptor-associated factor 3	210					apoptotic process (GO:0006915)|innate immune response (GO:0045087)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of type I interferon production (GO:0032480)|regulation of apoptotic process (GO:0042981)|regulation of cytokine production (GO:0001817)|regulation of defense response to virus (GO:0050688)|regulation of interferon-beta production (GO:0032648)|regulation of proteolysis (GO:0030162)|signal transduction (GO:0007165)|Toll signaling pathway (GO:0008063)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	CD40 receptor complex (GO:0035631)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endosome (GO:0005768)|mitochondrion (GO:0005739)	ligase activity (GO:0016874)|signal transducer activity (GO:0004871)|thioesterase binding (GO:0031996)|tumor necrosis factor receptor binding (GO:0005164)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(10)|liver(2)|lung(7)|ovary(1)|prostate(2)	30		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)		AGTGCAGCGTCCAGACTCTCC	0.607																																						uc001ymc.1		NA																	0				ovary(1)|lung(1)|breast(1)	3						c.(628-630)GTCfs		TNF receptor-associated factor 3 isoform 1							60.0	46.0	51.0					14																	103352585		2203	4300	6503	SO:0001589	frameshift_variant	7187				apoptosis|induction of apoptosis|negative regulation of NF-kappaB transcription factor activity|negative regulation of type I interferon production|regulation of defense response to virus|regulation of interferon-beta production|regulation of proteolysis|toll-like receptor signaling pathway|tumor necrosis factor-mediated signaling pathway	CD40 receptor complex|cytosol|endosome|internal side of plasma membrane|mitochondrion	signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr14:103352585delC	U21092	CCDS9975.1, CCDS9976.1, CCDS55946.1	14q32.32	2014-09-17				ENSG00000131323			12033	protein-coding gene	gene with protein product		601896				7530216, 7859281	Standard	NM_145725		Approved	CAP-1, CD40bp, CRAF1, LAP1	uc001ymd.2	Q13114		ENST00000560371.1:c.630delC	14.37:g.103352585delC	ENSP00000454207:p.Val210fs					TRAF3_uc001yme.1_Frame_Shift_Del_p.V210fs|TRAF3_uc001ymd.1_Frame_Shift_Del_p.V210fs|TRAF3_uc010txy.1_Intron	p.V210fs	NM_145725	NP_663777	Q13114	TRAF3_HUMAN		Epithelial(152;9.92e-24)|all cancers(159;2.23e-21)|OV - Ovarian serous cystadenocarcinoma(161;7.85e-12)|Colorectal(3;0.0971)	7	983	+		all_cancers(154;7.87e-06)|all_epithelial(191;0.0024)	210			TRAF-type 2.		B7Z8C4|Q12990|Q13076|Q13947|Q6AZX1|Q9UNL1	Frame_Shift_Del	DEL	ENST00000560371.1	37	c.630delC	CCDS9975.1																																																																																				0.607	TRAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415735.1	NM_145725		26	10	NA	NA	NA	NA	26	10	---	---	---	---
MAP2K1	5604	broad.mit.edu	37	15	66729094	66729099	+	In_Frame_Del	DEL	TGGAGA	TGGAGA	-			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr15:66729094_66729099delTGGAGA	ENST00000307102.5	+	3	833_838	c.302_307delTGGAGA	c.(301-309)ctggagatc>ctc	p.EI102del		NM_002755.3	NP_002746.1	Q02750	MP2K1_HUMAN	mitogen-activated protein kinase kinase 1	102	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|axon guidance (GO:0007411)|cell cycle arrest (GO:0007050)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|cellular component movement (GO:0006928)|cellular senescence (GO:0090398)|chemotaxis (GO:0006935)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|Golgi inheritance (GO:0048313)|innate immune response (GO:0045087)|insulin receptor signaling pathway (GO:0008286)|keratinocyte differentiation (GO:0030216)|labyrinthine layer development (GO:0060711)|MAPK cascade (GO:0000165)|melanosome transport (GO:0032402)|mitotic nuclear division (GO:0007067)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of cell proliferation (GO:0008285)|negative regulation of homotypic cell-cell adhesion (GO:0034111)|neurotrophin TRK receptor signaling pathway (GO:0048011)|placenta blood vessel development (GO:0060674)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of gene expression (GO:0010628)|positive regulation of protein serine/threonine kinase activity (GO:0071902)|positive regulation of Ras GTPase activity (GO:0032320)|positive regulation of Ras protein signal transduction (GO:0046579)|positive regulation of transcription elongation from RNA polymerase II promoter (GO:0032968)|protein heterooligomerization (GO:0051291)|Ras protein signal transduction (GO:0007265)|regulation of early endosome to late endosome transport (GO:2000641)|regulation of Golgi inheritance (GO:0090170)|regulation of stress-activated MAPK cascade (GO:0032872)|regulation of vascular smooth muscle contraction (GO:0003056)|response to axon injury (GO:0048678)|response to glucocorticoid (GO:0051384)|response to oxidative stress (GO:0006979)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)|stress-activated MAPK cascade (GO:0051403)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)|vesicle transport along microtubule (GO:0047496)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendrite cytoplasm (GO:0032839)|early endosome (GO:0005769)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|late endosome (GO:0005770)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perikaryon (GO:0043204)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activator activity (GO:0043539)|protein serine/threonine kinase activity (GO:0004674)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|protein tyrosine kinase activity (GO:0004713)|receptor signaling protein tyrosine phosphatase activity (GO:0004728)			endometrium(2)|kidney(1)|large_intestine(1)|lung(6)|prostate(1)|skin(8)|urinary_tract(1)	20					Bosutinib(DB06616)|Trametinib(DB08911)	CTAATTCATCTGGAGATCAAACCCGC	0.447																																						uc010bhq.2		NA																	0					0						c.(301-309)CTGGAGATC>CTC		mitogen-activated protein kinase kinase 1																																				SO:0001651	inframe_deletion	5604	Cardiofaciocutaneous_syndrome			activation of MAPK activity|activation of MAPKK activity|axon guidance|cell cycle arrest|cellular senescence|epidermal growth factor receptor signaling pathway|innate immune response|insulin receptor signaling pathway|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|negative regulation of cell proliferation|nerve growth factor receptor signaling pathway|Ras protein signal transduction|stress-activated MAPK cascade|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol|plasma membrane	ATP binding|MAP kinase kinase activity|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr15:66729094_66729099delTGGAGA	L11284	CCDS10216.1	15q22.1-q22.33	2014-09-17			ENSG00000169032	ENSG00000169032	2.7.12.2	"""Mitogen-activated protein kinase cascade / Kinase kinases"""	6840	protein-coding gene	gene with protein product		176872		PRKMK1		9465908, 8388392	Standard	NM_002755		Approved	MEK1, MAPKK1	uc010bhq.3	Q02750	OTTHUMG00000133196	ENST00000307102.5:c.302_307delTGGAGA	15.37:g.66729094_66729099delTGGAGA	ENSP00000302486:p.Glu102_Ile103del					MAP2K1_uc010ujp.1_In_Frame_Del_p.EI80del	p.EI102del	NM_002755	NP_002746	Q02750	MP2K1_HUMAN			3	777_782	+			102_103			Protein kinase.			In_Frame_Del	DEL	ENST00000307102.5	37	c.302_307delTGGAGA	CCDS10216.1																																																																																				0.447	MAP2K1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256906.4			36	60	NA	NA	NA	NA	36	60	---	---	---	---
ACOX3	8310	broad.mit.edu	37	4	8376858	8376858	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr4:8376858delC	ENST00000356406.5	-	15	1752	c.1675delG	c.(1675-1677)gcgfs	p.A559fs	ACOX3_ENST00000503233.1_Frame_Shift_Del_p.A559fs|ACOX3_ENST00000413009.2_Frame_Shift_Del_p.A559fs|ACOX3_ENST00000515797.1_5'Flank	NM_003501.2	NP_003492.2	O15254	ACOX3_HUMAN	acyl-CoA oxidase 3, pristanoyl	559					cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|small molecule metabolic process (GO:0044281)	membrane (GO:0016020)|mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)|peroxisome (GO:0005777)	acyl-CoA dehydrogenase activity (GO:0003995)|flavin adenine dinucleotide binding (GO:0050660)|pristanoyl-CoA oxidase activity (GO:0016402)|receptor binding (GO:0005102)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(17)|prostate(1)|skin(3)|stomach(1)	42						AAGGCCAGCGCCAACGGACGG	0.697																																						uc010idk.2		NA																	0				central_nervous_system(1)	1						c.(1675-1677)GCGfs		acyl-Coenzyme A oxidase 3 isoform a							18.0	18.0	18.0					4																	8376858		2140	4196	6336	SO:0001589	frameshift_variant	8310				bile acid metabolic process|fatty acid beta-oxidation using acyl-CoA oxidase	peroxisomal matrix	acyl-CoA dehydrogenase activity|flavin adenine dinucleotide binding|pristanoyl-CoA oxidase activity	g.chr4:8376858delC	Y11411	CCDS3401.1, CCDS47017.1	4p15.3	2010-04-30	2010-04-30		ENSG00000087008	ENSG00000087008	1.3.3.6		121	protein-coding gene	gene with protein product		603402	"""acyl-Coenzyme A oxidase 3, pristanoyl"""			9271077	Standard	NM_003501		Approved		uc003glc.4	O15254	OTTHUMG00000090509	ENST00000356406.5:c.1675delG	4.37:g.8376858delC	ENSP00000348775:p.Ala559fs					ACOX3_uc003glc.3_Frame_Shift_Del_p.A559fs|ACOX3_uc003gld.3_Frame_Shift_Del_p.A559fs|ACOX3_uc003gle.1_Frame_Shift_Del_p.A464fs	p.A559fs	NM_003501	NP_003492	O15254	ACOX3_HUMAN			15	1820	-			559					Q96AJ8	Frame_Shift_Del	DEL	ENST00000356406.5	37	c.1675delG	CCDS3401.1																																																																																				0.697	ACOX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000206997.4			2	4	NA	NA	NA	NA	2	4	---	---	---	---
MAS1L	116511	broad.mit.edu	37	6	29455156	29455157	+	Frame_Shift_Del	DEL	AC	AC	-	rs200721788|rs146992654|rs372287572|rs577687250	byFrequency	TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr6:29455156_29455157delAC	ENST00000377127.3	-	1	581_582	c.523_524delGT	c.(523-525)gtcfs	p.V175fs		NM_052967.1	NP_443199.1	P35410	MAS1L_HUMAN	MAS1 proto-oncogene like, G protein-coupled receptor	175					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						GGGGAAGAGGACACACACACAC	0.495														7	0.00139776	0.0045	0.0	5008	,	,		21251	0.0		0.0	False		,,,				2504	0.001				NSCLC(153;755 1987 3859 11251 32945)	uc011dlq.1		NA																	0				ovary(7)|lung(2)	9						c.(523-525)GTCfs		MAS1 oncogene-like				52,4210		1,50,2080						-4.7	0.0		dbSNP_134	66	110,8144		1,108,4018	yes	frameshift	MAS1L	NM_052967.1		2,158,6098	A1A1,A1R,RR		1.3327,1.2201,1.2943				162,12354				SO:0001589	frameshift_variant	116511					cytoplasm|integral to membrane|nucleus|plasma membrane	G-protein coupled receptor activity	g.chr6:29455156_29455157delAC	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.523_524delGT	6.37:g.29455166_29455167delAC	ENSP00000366331:p.Val175fs						p.V175fs	NM_052967	NP_443199	P35410	MAS1L_HUMAN			1	523_524	-			175			Cytoplasmic (Potential).		Q5SUN5	Frame_Shift_Del	DEL	ENST00000377127.3	37	c.523_524delGT	CCDS4661.1																																																																																				0.495	MAS1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076126.2	NM_052967		9	124	NA	NA	NA	NA	9	124	---	---	---	---
CSMD3	114788	broad.mit.edu	37	8	113332168	113332168	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CR-5250-01A-01D-1512-08	TCGA-CR-5250-10A-01D-1512-08	 	 	 	 	 	 	Unknown	Untested	Somatic	Unspecified	WXS	none	NA	NA	Illumina HiSeq	49e54f5a-9b3a-47ff-b6cc-a1eaf54fd136	79557539-56d8-411f-8151-1bc33fe25c4d	g.chr8:113332168delT	ENST00000297405.5	-	46	7452	c.7208delA	c.(7207-7209)aatfs	p.N2403fs	CSMD3_ENST00000352409.3_Frame_Shift_Del_p.N2333fs|CSMD3_ENST00000455883.2_Frame_Shift_Del_p.N2299fs|CSMD3_ENST00000343508.3_Frame_Shift_Del_p.N2363fs	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	2403	Sushi 13. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AATTTCAGCATTGGGCACAGG	0.353										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												uc003ynu.2		NA																	0				ovary(21)|lung(11)|skin(11)|kidney(8)|large_intestine(6)|upper_aerodigestive_tract(2)|central_nervous_system(2)|urinary_tract(1)|breast(1)	63						c.(7207-7209)AATfs		CUB and Sushi multiple domains 3 isoform 1							128.0	129.0	129.0					8																	113332168		2203	4300	6503	SO:0001589	frameshift_variant	114788					integral to membrane|plasma membrane		g.chr8:113332168delT	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.7208delA	8.37:g.113332168delT	ENSP00000297405:p.Asn2403fs	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_uc003yns.2_Frame_Shift_Del_p.N1605fs|CSMD3_uc003ynt.2_Frame_Shift_Del_p.N2363fs|CSMD3_uc011lhx.1_Frame_Shift_Del_p.N2299fs|CSMD3_uc003ynw.1_Frame_Shift_Del_p.N114fs	p.N2403fs	NM_198123	NP_937756	Q7Z407	CSMD3_HUMAN			46	7367	-			2403			Extracellular (Potential).|Sushi 13.		Q96PZ3	Frame_Shift_Del	DEL	ENST00000297405.5	37	c.7208delA	CCDS6315.1																																																																																				0.353	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		53	155	NA	NA	NA	NA	53	155	---	---	---	---
