#version 2.4
## 
## Oncotator v1.8.0.0 | Flat File Reference hg19 | GENCODE v19 EFFECT | UniProt_AAxform 2014_12 | ClinVar 12.03.20 | ESP 6500SI-V2 | ORegAnno UCSC Track | dbSNP build 142 | CCLE_By_GP 09292010 | COSMIC v62_291112 | 1000gp3 20130502 | UniProt_AA 2014_12 | dbNSFP v2.4 | ESP 6500SI-V2 | COSMIC_FusionGenes v62_291112 | gencode_xref_refseq metadata_v19 | CCLE_By_Gene 09292010 | ACHILLES_Lineage_Results 110303 | CGC full_2012-03-15 | UniProt 2014_12 | HumanDNARepairGenes 20110905 | HGNC Sept172014 | COSMIC_Tissue 291112 | Familial_Cancer_Genes 20110905 | TUMORScape 20100104 | Ensembl ICGC MUCOPA | TCGAScape 110405 | MutSig Published Results 20110905 
Hugo_Symbol	Entrez_Gene_Id	Center	NCBI_Build	Chromosome	Start_position	End_position	Strand	Variant_Classification	Variant_Type	Reference_Allele	Tumor_Seq_Allele1	Tumor_Seq_Allele2	dbSNP_RS	dbSNP_Val_Status	Tumor_Sample_Barcode	Matched_Norm_Sample_Barcode	Match_Norm_Seq_Allele1	Match_Norm_Seq_Allele2	Tumor_Validation_Allele1	Tumor_Validation_Allele2	Match_Norm_Validation_Allele1	Match_Norm_Validation_Allele2	Verification_Status	Validation_Status	Mutation_Status	Sequencing_Phase	Sequence_Source	Validation_Method	Score	BAM_file	Sequencer	Tumor_Sample_UUID	Matched_Norm_Sample_UUID	Genome_Change	Annotation_Transcript	Transcript_Strand	Transcript_Exon	Transcript_Position	cDNA_Change	Codon_Change	Protein_Change	Other_Transcripts	Refseq_mRNA_Id	Refseq_prot_Id	SwissProt_acc_Id	SwissProt_entry_Id	Description	UniProt_AApos	UniProt_Region	UniProt_Site	UniProt_Natural_Variations	UniProt_Experimental_Info	GO_Biological_Process	GO_Cellular_Component	GO_Molecular_Function	COSMIC_overlapping_mutations	COSMIC_fusion_genes	COSMIC_tissue_types_affected	COSMIC_total_alterations_in_gene	Tumorscape_Amplification_Peaks	Tumorscape_Deletion_Peaks	TCGAscape_Amplification_Peaks	TCGAscape_Deletion_Peaks	DrugBank	ref_context	gc_content	CCLE_ONCOMAP_overlapping_mutations	CCLE_ONCOMAP_total_mutations_in_gene	CGC_Mutation_Type	CGC_Translocation_Partner	CGC_Tumor_Types_Somatic	CGC_Tumor_Types_Germline	CGC_Other_Diseases	DNARepairGenes_Role	FamilialCancerDatabase_Syndromes	MUTSIG_Published_Results	OREGANNO_ID	OREGANNO_Values	i_1000gp3_AA	i_1000gp3_AC	i_1000gp3_AF	i_1000gp3_AFR_AF	i_1000gp3_AMR_AF	i_1000gp3_AN	i_1000gp3_CIEND	i_1000gp3_CIPOS	i_1000gp3_CS	i_1000gp3_DP	i_1000gp3_EAS_AF	i_1000gp3_END	i_1000gp3_EUR_AF	i_1000gp3_IMPRECISE	i_1000gp3_MC	i_1000gp3_MEINFO	i_1000gp3_MEND	i_1000gp3_MLEN	i_1000gp3_MSTART	i_1000gp3_NS	i_1000gp3_SAS_AF	i_1000gp3_SVLEN	i_1000gp3_SVTYPE	i_1000gp3_TSD	i_ACHILLES_Lineage_Results_Top_Genes	i_Annotation_Transcript	i_CCLE_ONCOMAP_overlapping_mutations	i_CCLE_ONCOMAP_total_mutations_in_gene	i_CGC_Cancer Germline Mut	i_CGC_Cancer Molecular Genetics	i_CGC_Cancer Somatic Mut	i_CGC_Cancer Syndrome	i_CGC_Chr	i_CGC_Chr Band	i_CGC_GeneID	i_CGC_Mutation_Type	i_CGC_Name	i_CGC_Other Germline Mut	i_CGC_Other_Diseases	i_CGC_Tissue Type	i_CGC_Translocation_Partner	i_CGC_Tumor_Types_Germline	i_CGC_Tumor_Types_Somatic	i_COSMIC_fusion_genes	i_COSMIC_n_overlapping_mutations	i_COSMIC_overlapping_mutation_descriptions	i_COSMIC_overlapping_mutations	i_COSMIC_overlapping_primary_sites	i_COSMIC_tissue_types_affected	i_COSMIC_total_alterations_in_gene	i_ClinVar_ASSEMBLY	i_ClinVar_HGMD_ID	i_ClinVar_SYM	i_ClinVar_TYPE	i_ClinVar_rs	i_Codon_Change	i_DNARepairGenes_Role	i_Description	i_DrugBank	i_ESP_AA	i_ESP_AAC	i_ESP_AA_AC	i_ESP_AA_AGE	i_ESP_AA_GTC	i_ESP_AvgAAsampleReadDepth	i_ESP_AvgEAsampleReadDepth	i_ESP_AvgSampleReadDepth	i_ESP_CA	i_ESP_CDP	i_ESP_CG	i_ESP_CP	i_ESP_Chromosome	i_ESP_DBSNP	i_ESP_DP	i_ESP_EA_AC	i_ESP_EA_AGE	i_ESP_EA_GTC	i_ESP_EXOME_CHIP	i_ESP_FG	i_ESP_GL	i_ESP_GM	i_ESP_GS	i_ESP_GTC	i_ESP_GTS	i_ESP_GWAS_PUBMED	i_ESP_MAF	i_ESP_PH	i_ESP_PP	i_ESP_Position	i_ESP_TAC	i_ESP_TotalAAsamplesCovered	i_ESP_TotalEAsamplesCovered	i_ESP_TotalSamplesCovered	i_Ensembl_so_accession	i_Ensembl_so_term	i_Entrez_Gene_Id	i_FamilialCancerDatabase_Syndromes	i_Familial_Cancer_Genes_Reference	i_Familial_Cancer_Genes_Synonym	i_GO_Biological_Process	i_GO_Cellular_Component	i_GO_Molecular_Function	i_Genome_Change	i_HGNC_Accession Numbers	i_HGNC_CCDS IDs	i_HGNC_Chromosome	i_HGNC_Date Modified	i_HGNC_Date Name Changed	i_HGNC_Date Symbol Changed	i_HGNC_Ensembl Gene ID	i_HGNC_Ensembl ID(supplied by Ensembl)	i_HGNC_Enzyme IDs	i_HGNC_Gene family description	i_HGNC_HGNC ID	i_HGNC_Locus Group	i_HGNC_Locus Type	i_HGNC_Name Synonyms	i_HGNC_OMIM ID(supplied by NCBI)	i_HGNC_Previous Names	i_HGNC_Previous Symbols	i_HGNC_Primary IDs	i_HGNC_Pubmed IDs	i_HGNC_Record Type	i_HGNC_RefSeq(supplied by NCBI)	i_HGNC_Secondary IDs	i_HGNC_Status	i_HGNC_Synonyms	i_HGNC_UCSC ID(supplied by UCSC)	i_HGNC_UniProt ID(supplied by UniProt)	i_HGNC_VEGA IDs	i_HGVS_coding_DNA_change	i_HGVS_genomic_change	i_HGVS_protein_change	i_MUTSIG_Published_Results	i_OREGANNO_ID	i_OREGANNO_Values	i_ORegAnno_bin	i_Other_Transcripts	i_Protein_Change	i_Refseq_mRNA_Id	i_Refseq_prot_Id	i_SwissProt_acc_Id	i_SwissProt_entry_Id	i_TCGAscape_Amplification_Peaks	i_TCGAscape_Deletion_Peaks	i_Transcript_Exon	i_Transcript_Position	i_Transcript_Strand	i_Tumorscape_Amplification_Peaks	i_Tumorscape_Deletion_Peaks	i_UniProt_AApos	i_UniProt_Experimental_Info	i_UniProt_Natural_Variations	i_UniProt_Region	i_UniProt_Site	i_UniProt_alt_uniprot_accessions	i_Variant_Classification	i_Variant_Type	i_annotation_transcript	i_build	i_cDNA_Change	i_ccds_id	i_dbNSFP_1000Gp1_AC	i_dbNSFP_1000Gp1_AF	i_dbNSFP_1000Gp1_AFR_AC	i_dbNSFP_1000Gp1_AFR_AF	i_dbNSFP_1000Gp1_AMR_AC	i_dbNSFP_1000Gp1_AMR_AF	i_dbNSFP_1000Gp1_ASN_AC	i_dbNSFP_1000Gp1_ASN_AF	i_dbNSFP_1000Gp1_EUR_AC	i_dbNSFP_1000Gp1_EUR_AF	i_dbNSFP_Ancestral_allele	i_dbNSFP_CADD_phred	i_dbNSFP_CADD_raw	i_dbNSFP_CADD_raw_rankscore	i_dbNSFP_ESP6500_AA_AF	i_dbNSFP_ESP6500_EA_AF	i_dbNSFP_Ensembl_geneid	i_dbNSFP_Ensembl_transcriptid	i_dbNSFP_FATHMM_pred	i_dbNSFP_FATHMM_rankscore	i_dbNSFP_FATHMM_score	i_dbNSFP_GERP++_NR	i_dbNSFP_GERP++_RS	i_dbNSFP_GERP++_RS_rankscore	i_dbNSFP_Interpro_domain	i_dbNSFP_LRT_Omega	i_dbNSFP_LRT_converted_rankscore	i_dbNSFP_LRT_pred	i_dbNSFP_LRT_score	i_dbNSFP_LR_pred	i_dbNSFP_LR_rankscore	i_dbNSFP_LR_score	i_dbNSFP_MutationAssessor_pred	i_dbNSFP_MutationAssessor_rankscore	i_dbNSFP_MutationAssessor_score	i_dbNSFP_MutationTaster_converted_rankscore	i_dbNSFP_MutationTaster_pred	i_dbNSFP_MutationTaster_score	i_dbNSFP_Polyphen2_HDIV_pred	i_dbNSFP_Polyphen2_HDIV_rankscore	i_dbNSFP_Polyphen2_HDIV_score	i_dbNSFP_Polyphen2_HVAR_pred	i_dbNSFP_Polyphen2_HVAR_rankscore	i_dbNSFP_Polyphen2_HVAR_score	i_dbNSFP_RadialSVM_pred	i_dbNSFP_RadialSVM_rankscore	i_dbNSFP_RadialSVM_score	i_dbNSFP_Reliability_index	i_dbNSFP_SIFT_converted_rankscore	i_dbNSFP_SIFT_pred	i_dbNSFP_SIFT_score	i_dbNSFP_SLR_test_statistic	i_dbNSFP_SiPhy_29way_logOdds	i_dbNSFP_SiPhy_29way_logOdds_rankscore	i_dbNSFP_SiPhy_29way_pi	i_dbNSFP_UniSNP_ids	i_dbNSFP_Uniprot_aapos	i_dbNSFP_Uniprot_acc	i_dbNSFP_Uniprot_id	i_dbNSFP_aaalt	i_dbNSFP_aapos	i_dbNSFP_aapos_FATHMM	i_dbNSFP_aapos_SIFT	i_dbNSFP_aaref	i_dbNSFP_cds_strand	i_dbNSFP_codonpos	i_dbNSFP_fold-degenerate	i_dbNSFP_genename	i_dbNSFP_hg18_pos(1-coor)	i_dbNSFP_phastCons100way_vertebrate	i_dbNSFP_phastCons100way_vertebrate_rankscore	i_dbNSFP_phastCons46way_placental	i_dbNSFP_phastCons46way_placental_rankscore	i_dbNSFP_phastCons46way_primate	i_dbNSFP_phastCons46way_primate_rankscore	i_dbNSFP_phyloP100way_vertebrate	i_dbNSFP_phyloP100way_vertebrate_rankscore	i_dbNSFP_phyloP46way_placental	i_dbNSFP_phyloP46way_placental_rankscore	i_dbNSFP_phyloP46way_primate	i_dbNSFP_phyloP46way_primate_rankscore	i_dbNSFP_refcodon	i_entrez_gene_id	i_gc_content_full	i_gencode_transcript_name	i_gencode_transcript_status	i_gencode_transcript_tags	i_gencode_transcript_type	i_gene_type	i_havana_transcript	i_refseq_mrna_id	i_secondary_variant_classification	i_t_alt_count_full	i_t_ref_count_full	isArtifactMode	oxoGCut	pox	pox_cutoff	qox	t_alt_count	t_ref_count	validation_alt_allele	validation_method	validation_status	validation_tumor_sample
QRFPR	84109	broad.mit.edu	37	4	122250693	122250693	+	Missense_Mutation	SNP	G	G	C			TCGA-RW-A68F-01A-11D-A35D-08	TCGA-RW-A68F-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0	394f8b07-8cbd-4f98-80a5-b757a66d82fe	g.chr4:122250693G>C	ENST00000394427.2	-	6	1483	c.1072C>G	c.(1072-1074)Cca>Gca	p.P358A	QRFPR_ENST00000334383.5_3'UTR|Y_RNA_ENST00000384419.1_RNA	NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN	pyroglutamylated RFamide peptide receptor	358					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide Y receptor activity (GO:0004983)			endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						CTTTGTGCTGGAGAGAAGGTT	0.368																																						ENST00000394427.2																			0				endometrium(1)|kidney(2)|large_intestine(9)|lung(10)|prostate(2)|skin(3)|stomach(1)	28						c.(1072-1074)Cca>Gca		pyroglutamylated RFamide peptide receptor							134.0	132.0	133.0					4																	122250693		2203	4300	6503	SO:0001583	missense	84109					plasma membrane	neuropeptide Y receptor activity	g.chr4:122250693G>C	AF411117	CCDS3719.1	4q27	2012-08-10	2008-12-18	2008-12-18	ENSG00000186867	ENSG00000186867		"""GPCR / Class A : RF amide peptide receptors"""	15565	protein-coding gene	gene with protein product		606925	"""G protein-coupled receptor 103"""	GPR103		11574155	Standard	NM_198179		Approved		uc010inj.1	Q96P65	OTTHUMG00000133036	ENST00000394427.2:c.1072C>G	4.37:g.122250693G>C	ENSP00000377948:p.Pro358Ala					QRFPR_ENST00000334383.5_3'UTR	p.P358A	NM_198179.2	NP_937822.2	Q96P65	QRFPR_HUMAN			6	1483	-			358						Missense_Mutation	SNP	ENST00000394427.2	37	c.1072C>G	CCDS3719.1	.	.	.	.	.	.	.	.	.	.	G	18.74	3.688663	0.68271	.	.	ENSG00000186867	ENST00000394427	T	0.36699	1.24	5.32	5.32	0.75619	.	0.073596	0.56097	D	0.000023	T	0.27278	0.0669	L	0.36672	1.1	0.80722	D	1	P	0.48294	0.908	B	0.41860	0.368	T	0.03795	-1.1003	10	0.08837	T	0.75	.	13.3168	0.60411	0.0764:0.0:0.9236:0.0	.	358	Q96P65	QRFPR_HUMAN	A	358	ENSP00000377948:P358A	ENSP00000377948:P358A	P	-	1	0	QRFPR	122470143	1.000000	0.71417	0.738000	0.30950	0.439000	0.31926	2.572000	0.45999	2.499000	0.84300	0.491000	0.48974	CCA		0.368	QRFPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256641.2	NM_198179		6	140	0	0	0	1	0	6	140				
MACROD1	28992	broad.mit.edu	37	11	63767229	63767229	+	Missense_Mutation	SNP	A	A	G			TCGA-RW-A68F-01A-11D-A35D-08	TCGA-RW-A68F-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0	394f8b07-8cbd-4f98-80a5-b757a66d82fe	g.chr11:63767229A>G	ENST00000255681.6	-	6	737	c.671T>C	c.(670-672)aTc>aCc	p.I224T	OTUB1_ENST00000535715.1_Intron	NM_014067.3	NP_054786.2	Q9BQ69	MACD1_HUMAN	MACRO domain containing 1	224	Macro. {ECO:0000255|PROSITE- ProRule:PRU00490}.				cellular response to DNA damage stimulus (GO:0006974)|protein de-ADP-ribosylation (GO:0051725)|purine nucleoside metabolic process (GO:0042278)	mitochondrion (GO:0005739)|nucleus (GO:0005634)	deacetylase activity (GO:0019213)|hydrolase activity, acting on glycosyl bonds (GO:0016798)			breast(1)|large_intestine(3)|lung(6)|skin(1)	11						CACTGTGTGGATGACGTCTAC	0.701																																						ENST00000255681.6																			0				breast(1)|large_intestine(3)|lung(6)|skin(1)	11						c.(670-672)aTc>aCc		MACRO domain containing 1							11.0	15.0	13.0					11																	63767229		2150	4213	6363	SO:0001583	missense	28992							g.chr11:63767229A>G	AF202922	CCDS8056.1	11q13.1	2007-07-24	2007-06-11		ENSG00000133315	ENSG00000133315			29598	protein-coding gene	gene with protein product		610400				15691879	Standard	NM_014067		Approved	LRP16	uc001nyh.3	Q9BQ69	OTTHUMG00000167843	ENST00000255681.6:c.671T>C	11.37:g.63767229A>G	ENSP00000255681:p.Ile224Thr					OTUB1_ENST00000535715.1_Intron	p.I224T	NM_014067.3	NP_054786.2	Q9BQ69	MACD1_HUMAN			6	737	-			224			Macro.		Q9UH96	Missense_Mutation	SNP	ENST00000255681.6	37	c.671T>C	CCDS8056.1	.	.	.	.	.	.	.	.	.	.	A	15.38	2.815861	0.50527	.	.	ENSG00000133315	ENST00000255681	T	0.33438	1.41	3.77	3.77	0.43336	Appr-1-p processing (3);	0.000000	0.52532	U	0.000067	T	0.70307	0.3209	H	0.99464	4.58	0.52099	D	0.999949	D	0.89917	1.0	D	0.87578	0.998	T	0.78919	-0.2014	10	0.87932	D	0	-16.7618	9.1662	0.37052	1.0:0.0:0.0:0.0	.	224	Q9BQ69	MACD1_HUMAN	T	224	ENSP00000255681:I224T	ENSP00000255681:I224T	I	-	2	0	MACROD1	63523805	1.000000	0.71417	1.000000	0.80357	0.264000	0.26372	1.498000	0.35660	1.499000	0.48617	0.260000	0.18958	ATC		0.701	MACROD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396570.1	NM_014067		3	3	0	0	0	1	0	3	3				
RNF149	284996	broad.mit.edu	37	2	101893717	101893717	+	Missense_Mutation	SNP	C	C	T			TCGA-RW-A68F-01A-11D-A35D-08	TCGA-RW-A68F-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0	394f8b07-8cbd-4f98-80a5-b757a66d82fe	g.chr2:101893717C>T	ENST00000295317.3	-	7	1293	c.1186G>A	c.(1186-1188)Gga>Aga	p.G396R		NM_173647.3	NP_775918.2	Q8NC42	RN149_HUMAN	ring finger protein 149	396					cellular response to drug (GO:0035690)|negative regulation of MAPK cascade (GO:0043409)|regulation of protein stability (GO:0031647)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12						ATGGGTCCTCCATGCCGAGAG	0.458																																					Colon(25;331 612 6521 7355 31028)	ENST00000295317.3																			0				breast(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(3)|ovary(1)|prostate(1)	12						c.(1186-1188)Gga>Aga		ring finger protein 149							48.0	48.0	48.0					2																	101893717		2203	4300	6503	SO:0001583	missense	284996					integral to membrane	ligase activity|zinc ion binding	g.chr2:101893717C>T	AK074985	CCDS2051.1	2q12.1	2013-01-09			ENSG00000163162	ENSG00000163162		"""RING-type (C3HC4) zinc fingers"""	23137	protein-coding gene	gene with protein product							Standard	NM_173647		Approved	FLJ90504	uc002taz.2	Q8NC42	OTTHUMG00000130685	ENST00000295317.3:c.1186G>A	2.37:g.101893717C>T	ENSP00000295317:p.Gly396Arg						p.G396R	NM_173647.3	NP_775918.2	Q8NC42	RN149_HUMAN			7	1293	-			396					Q53S14|Q8N5I8|Q8NBY5|Q8WUU3	Missense_Mutation	SNP	ENST00000295317.3	37	c.1186G>A	CCDS2051.1	.	.	.	.	.	.	.	.	.	.	C	12.26	1.884821	0.33255	.	.	ENSG00000163162	ENST00000295317	T	0.09911	2.93	4.65	4.65	0.58169	.	0.583811	0.16579	N	0.208283	T	0.12475	0.0303	L	0.34521	1.04	0.09310	N	0.999996	P	0.44627	0.839	P	0.44394	0.448	T	0.08576	-1.0715	10	0.87932	D	0	.	13.3989	0.60870	0.0:1.0:0.0:0.0	.	396	Q8NC42	RN149_HUMAN	R	396	ENSP00000295317:G396R	ENSP00000295317:G396R	G	-	1	0	RNF149	101260149	0.963000	0.33076	0.010000	0.14722	0.006000	0.05464	3.398000	0.52579	2.306000	0.77630	0.563000	0.77884	GGA		0.458	RNF149-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253180.2	NM_173647		15	29	0	0	0	1	0	15	29				
SLC35C1	55343	broad.mit.edu	37	11	45827751	45827751	+	Silent	SNP	C	C	G			TCGA-RW-A68F-01A-11D-A35D-08	TCGA-RW-A68F-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0	394f8b07-8cbd-4f98-80a5-b757a66d82fe	g.chr11:45827751C>G	ENST00000314134.3	+	1	1795	c.399C>G	c.(397-399)ctC>ctG	p.L133L	SLC35C1_ENST00000456334.1_Silent_p.L120L|SLC35C1_ENST00000442528.2_Silent_p.L120L	NM_018389.4	NP_060859.4	Q96A29	FUCT1_HUMAN	solute carrier family 35 (GDP-fucose transporter), member C1	133					carbohydrate transport (GO:0008643)|lipid glycosylation (GO:0030259)|negative regulation of Notch signaling pathway (GO:0045746)|transmembrane transport (GO:0055085)	Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)				endometrium(3)|kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10				GBM - Glioblastoma multiforme(35;0.227)		TCAATAACCTCTGCCTCAAGT	0.607																																						ENST00000314134.3																			0				endometrium(3)|kidney(1)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)	10						c.(397-399)ctC>ctG		solute carrier family 35 (GDP-fucose transporter), member C1							146.0	106.0	120.0					11																	45827751		2203	4299	6502	SO:0001819	synonymous_variant	55343					Golgi membrane|integral to membrane	GDP-fucose transmembrane transporter activity	g.chr11:45827751C>G		CCDS7914.1, CCDS44575.1	11p11.2	2014-09-17	2013-07-17			ENSG00000181830		"""Solute carriers"""	20197	protein-coding gene	gene with protein product		605881	"""solute carrier family 35, member C1"""			11326279, 11326280	Standard	NM_018389		Approved	FUCT1, FLJ11320	uc010rgm.2	Q96A29		ENST00000314134.3:c.399C>G	11.37:g.45827751C>G						SLC35C1_ENST00000456334.1_Silent_p.L120L|SLC35C1_ENST00000442528.2_Silent_p.L120L	p.L133L	NM_018389.4	NP_060859.4	Q96A29	FUCT1_HUMAN		GBM - Glioblastoma multiforme(35;0.227)	1	1795	+			133					B2RDB2|Q9BV76|Q9NUJ8	Silent	SNP	ENST00000314134.3	37	c.399C>G	CCDS7914.1																																																																																				0.607	SLC35C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390139.1	NM_018389		28	10	0	0	0	1	0	28	10				
CCR8	1237	broad.mit.edu	37	3	39374010	39374010	+	Missense_Mutation	SNP	G	G	A			TCGA-RW-A68F-01A-11D-A35D-08	TCGA-RW-A68F-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0	394f8b07-8cbd-4f98-80a5-b757a66d82fe	g.chr3:39374010G>A	ENST00000326306.4	+	2	326	c.188G>A	c.(187-189)tGc>tAc	p.C63Y	CCR8_ENST00000545843.1_Intron|CCR8_ENST00000414803.1_Intron	NM_005201.3	NP_005192.1	P51685	CCR8_HUMAN	chemokine (C-C motif) receptor 8	63					cell adhesion (GO:0007155)|chemokine-mediated signaling pathway (GO:0070098)|chemotaxis (GO:0006935)|G-protein coupled receptor signaling pathway (GO:0007186)|immune response (GO:0006955)|positive regulation of cytosolic calcium ion concentration (GO:0007204)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	C-C chemokine receptor activity (GO:0016493)|chemokine receptor activity (GO:0004950)|coreceptor activity (GO:0015026)			NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	21				KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)		CTTGTGGTCTGCAAGAAGCTG	0.478																																						ENST00000326306.4																			0				NS(3)|breast(1)|endometrium(3)|large_intestine(5)|lung(7)|ovary(1)|skin(1)	21						c.(187-189)tGc>tAc		chemokine (C-C motif) receptor 8							242.0	217.0	225.0					3																	39374010		2203	4300	6503	SO:0001583	missense	1237				cell adhesion|chemotaxis|elevation of cytosolic calcium ion concentration|immune response	integral to plasma membrane	coreceptor activity	g.chr3:39374010G>A	D49919	CCDS2684.1	3p22	2012-08-08			ENSG00000179934	ENSG00000179934		"""GPCR / Class A : Chemokine receptors : C-C motif"", ""CD molecules"""	1609	protein-coding gene	gene with protein product		601834		CMKBRL2, CMKBR8		8816377, 8886020	Standard	NM_005201		Approved	CY6, TER1, CKR-L1, GPR-CY6, CDw198	uc010hhr.2	P51685	OTTHUMG00000131290	ENST00000326306.4:c.188G>A	3.37:g.39374010G>A	ENSP00000326432:p.Cys63Tyr					CCR8_ENST00000414803.1_Intron|CCR8_ENST00000545843.1_Intron	p.C63Y	NM_005201.3	NP_005192.1	P51685	CCR8_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0504)|Kidney(284;0.0635)	2	326	+			63					B2RC64|Q3KNQ8|Q3KNR3|Q9BYX5	Missense_Mutation	SNP	ENST00000326306.4	37	c.188G>A	CCDS2684.1	.	.	.	.	.	.	.	.	.	.	G	3.474	-0.107220	0.06924	.	.	ENSG00000179934	ENST00000326306	T	0.71103	-0.54	4.97	3.11	0.35812	GPCR, rhodopsin-like superfamily (1);	0.404790	0.27193	N	0.020498	T	0.45094	0.1325	N	0.12887	0.27	0.80722	D	1	B	0.09022	0.002	B	0.08055	0.003	T	0.20273	-1.0280	10	0.07644	T	0.81	.	7.9895	0.30231	0.2838:0.0:0.7162:0.0	.	63	P51685	CCR8_HUMAN	Y	63	ENSP00000326432:C63Y	ENSP00000326432:C63Y	C	+	2	0	CCR8	39349014	0.000000	0.05858	0.992000	0.48379	0.513000	0.34164	0.248000	0.18198	0.633000	0.30452	-0.244000	0.11960	TGC		0.478	CCR8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254058.2	NM_005201		4	161	0	0	0	1	0	4	161				
WASH3P	374666	broad.mit.edu	37	15	102516511	102516511	+	RNA	SNP	C	C	T	rs28450830		TCGA-RW-A68F-01A-11D-A35D-08	TCGA-RW-A68F-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0	394f8b07-8cbd-4f98-80a5-b757a66d82fe	g.chr15:102516511C>T	ENST00000557932.1	+	0	1459				DDX11L9_ENST00000562189.1_RNA			C4AMC7	WASH3_HUMAN	WAS protein family homolog 3 pseudogene						Arp2/3 complex-mediated actin nucleation (GO:0034314)|endosomal transport (GO:0016197)|retrograde transport, endosome to Golgi (GO:0042147)	early endosome (GO:0005769)|filopodium (GO:0030175)|lamellipodium (GO:0030027)|membrane (GO:0016020)|recycling endosome (GO:0055037)|WASH complex (GO:0071203)	alpha-tubulin binding (GO:0043014)			central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25						AGACTTGGGCCGTTGCTCTGA	0.627																																						ENST00000557932.1																			0				central_nervous_system(1)|endometrium(6)|kidney(11)|prostate(5)|stomach(1)|urinary_tract(1)	25																																														374666							g.chr15:102516511C>T			15q26.3	2014-03-20	2008-01-16	2008-01-16	ENSG00000185596	ENSG00000185596		"""WAS protein homologs"""	24362	pseudogene	pseudogene			"""family with sequence similarity 39, member D pseudogene"""	FAM39DP		11701968, 18159949	Standard	NR_003659		Approved	FLJ25222	uc002cdi.3	C4AMC7	OTTHUMG00000172275		15.37:g.102516511C>T														0	1459	+									RNA	SNP	ENST00000557932.1	37																																																																																						0.627	WASH3P-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417608.1	NM_199163		3	45	0	0	0	1	0	3	45				
NUCKS1	64710	broad.mit.edu	37	1	205687522	205687522	+	Silent	SNP	T	T	C			TCGA-RW-A68F-01A-11D-A35D-08	TCGA-RW-A68F-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0	394f8b07-8cbd-4f98-80a5-b757a66d82fe	g.chr1:205687522T>C	ENST00000367142.4	-	7	920	c.618A>G	c.(616-618)aaA>aaG	p.K206K	NUCKS1_ENST00000464938.1_5'Flank	NM_022731.4	NP_073568.2	Q9H1E3	NUCKS_HUMAN	nuclear casein kinase and cyclin-dependent kinase substrate 1	206	Lys-rich.					cytoplasm (GO:0005737)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)			endometrium(4)|large_intestine(1)|lung(9)	14	Breast(84;0.07)		BRCA - Breast invasive adenocarcinoma(75;0.0194)			CATCTTCTTCTTTGGGAGAAG	0.493																																						ENST00000367142.4																			0				endometrium(4)|large_intestine(1)|lung(9)	14						c.(616-618)aaA>aaG		nuclear casein kinase and cyclin-dependent kinase substrate 1							167.0	189.0	181.0					1																	205687522		2203	4300	6503	SO:0001819	synonymous_variant	64710					nucleus		g.chr1:205687522T>C		CCDS30987.1	1q32.1	2008-02-05			ENSG00000069275	ENSG00000069275			29923	protein-coding gene	gene with protein product		611912				11298763	Standard	NM_022731		Approved	NUCKS	uc001hdb.3	Q9H1E3	OTTHUMG00000035996	ENST00000367142.4:c.618A>G	1.37:g.205687522T>C							p.K206K	NM_022731.4	NP_073568.2	Q9H1E3	NUCKS_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.0194)		7	920	-	Breast(84;0.07)		206			Lys-rich.		Q54AC0|Q5PXE7|Q9H1D6|Q9H723	Silent	SNP	ENST00000367142.4	37	c.618A>G	CCDS30987.1																																																																																				0.493	NUCKS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087729.1	NM_022731		93	155	0	0	0	1	0	93	155				
BMS1P20	96610	broad.mit.edu	37	22	22664141	22664141	+	RNA	SNP	G	G	A	rs369590722		TCGA-RW-A68F-01A-11D-A35D-08	TCGA-RW-A68F-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0	394f8b07-8cbd-4f98-80a5-b757a66d82fe	g.chr22:22664141G>A	ENST00000426066.1	+	0	664					NR_027293.1				BMS1 pseudogene 20																		AAATTTGAAGGTGCTGTGATT	0.448																																						ENST00000426066.1																			0																																																			96610							g.chr22:22664141G>A			22q11.22	2013-09-20			ENSG00000236850	ENSG00000236850			49153	pseudogene	pseudogene							Standard	XR_430414		Approved				OTTHUMG00000151046		22.37:g.22664141G>A								NR_027293.1						0	664	+									RNA	SNP	ENST00000426066.1	37																																																																																						0.448	BMS1P20-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000473090.1			4	88	0	0	0	1	0	4	88				
TMEM2	23670	broad.mit.edu	37	9	74360015	74360015	+	Missense_Mutation	SNP	G	G	A			TCGA-RW-A68F-01A-11D-A35D-08	TCGA-RW-A68F-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0	394f8b07-8cbd-4f98-80a5-b757a66d82fe	g.chr9:74360015G>A	ENST00000377044.4	-	4	1492	c.953C>T	c.(952-954)gCc>gTc	p.A318V	TMEM2_ENST00000377066.5_Missense_Mutation_p.A318V	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN	transmembrane protein 2	318					multicellular organismal development (GO:0007275)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)		ACTTTTAGCGGCTGAATCCCC	0.507																																						ENST00000377044.4																			0				central_nervous_system(1)|endometrium(6)|kidney(3)|large_intestine(15)|liver(1)|lung(19)|ovary(2)|prostate(5)|skin(1)|stomach(1)|urinary_tract(2)	56						c.(952-954)gCc>gTc		transmembrane protein 2							138.0	129.0	132.0					9																	74360015		2203	4300	6503	SO:0001583	missense	23670					integral to membrane		g.chr9:74360015G>A		CCDS6638.1, CCDS47979.1	9q21.13	2011-07-19			ENSG00000135048	ENSG00000135048			11869	protein-coding gene	gene with protein product		605835					Standard	NM_013390		Approved		uc011lsa.1	Q9UHN6	OTTHUMG00000020000	ENST00000377044.4:c.953C>T	9.37:g.74360015G>A	ENSP00000366243:p.Ala318Val					TMEM2_ENST00000377066.5_Missense_Mutation_p.A318V	p.A318V	NM_001135820.1|NM_013390.2	NP_001129292.1|NP_037522.1	Q9UHN6	TMEM2_HUMAN		GBM - Glioblastoma multiforme(74;7.45e-21)|OV - Ovarian serous cystadenocarcinoma(323;1.02e-16)	4	1492	-		all_epithelial(88;4.56e-14)|Myeloproliferative disorder(762;0.0255)	318					A6H8W9|B2RTQ6|Q5T838|Q5T839|Q5T840|Q5T841|Q8NBP6|Q9P2D5	Missense_Mutation	SNP	ENST00000377044.4	37	c.953C>T	CCDS6638.1	.	.	.	.	.	.	.	.	.	.	G	19.13	3.768401	0.69878	.	.	ENSG00000135048	ENST00000377044;ENST00000377066	T;T	0.76709	-1.01;-1.04	6.03	6.03	0.97812	.	0.000000	0.85682	D	0.000000	T	0.77638	0.4160	M	0.69823	2.125	0.80722	D	1	B;P	0.36990	0.441;0.577	B;B	0.38428	0.141;0.273	T	0.77566	-0.2540	10	0.46703	T	0.11	.	13.7134	0.62682	0.0699:0.0:0.9301:0.0	.	318;318	Q9UHN6;Q9UHN6-2	TMEM2_HUMAN;.	V	318	ENSP00000366243:A318V;ENSP00000366266:A318V	ENSP00000366243:A318V	A	-	2	0	TMEM2	73549835	1.000000	0.71417	0.996000	0.52242	0.724000	0.41520	7.415000	0.80131	2.861000	0.98227	0.655000	0.94253	GCC		0.507	TMEM2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052618.2	NM_013390		4	150	0	0	0	1	0	4	150				
TPTE2P6	374491	broad.mit.edu	37	13	25168471	25168471	+	RNA	SNP	C	C	T	rs61946941	byFrequency	TCGA-RW-A68F-01A-11D-A35D-08	TCGA-RW-A68F-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0	394f8b07-8cbd-4f98-80a5-b757a66d82fe	g.chr13:25168471C>T	ENST00000453498.1	+	0	1143				TPTE2P6_ENST00000440905.1_RNA																							CATCTCTGTACGATGATGTGA	0.358																																						ENST00000453498.1																			0																																																			374491							g.chr13:25168471C>T																													13.37:g.25168471C>T														0	1143	+									RNA	SNP	ENST00000453498.1	37																																																																																						0.358	RP11-556N21.1-001	KNOWN	basic|readthrough_transcript	processed_transcript	processed_transcript	OTTHUMT00000044193.1			4	60	0	0	0	1	0	4	60				
FZD8	8325	broad.mit.edu	37	10	35928890	35928890	+	Missense_Mutation	SNP	C	C	A			TCGA-RW-A68F-01A-11D-A35D-08	TCGA-RW-A68F-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0	394f8b07-8cbd-4f98-80a5-b757a66d82fe	g.chr10:35928890C>A	ENST00000374694.1	-	1	1472	c.1468G>T	c.(1468-1470)Gtc>Ttc	p.V490F	MIR4683_ENST00000579659.1_RNA	NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN	frizzled class receptor 8	490					axonogenesis (GO:0007409)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|gonad development (GO:0008406)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|positive regulation of JUN kinase activity (GO:0043507)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|T cell differentiation in thymus (GO:0033077)|vasculature development (GO:0001944)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|PDZ domain binding (GO:0030165)|ubiquitin protein ligase binding (GO:0031625)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						AGGTAGATGACCAGCGGCGCC	0.662																																						ENST00000374694.1																			0				central_nervous_system(1)|endometrium(3)|large_intestine(2)|lung(3)|prostate(1)|urinary_tract(1)	11						c.(1468-1470)Gtc>Ttc		frizzled family receptor 8							49.0	40.0	43.0					10																	35928890		2203	4300	6503	SO:0001583	missense	8325				axonogenesis|brain development|canonical Wnt receptor signaling pathway|embryo development|gonad development|T cell differentiation in thymus|vasculature development	cell projection|Golgi apparatus|integral to membrane|plasma membrane	G-protein coupled receptor activity|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr10:35928890C>A	AB043703	CCDS7192.1	10p11.2	2014-01-29	2014-01-29		ENSG00000177283	ENSG00000177283		"""GPCR / Class F : Frizzled receptors"""	4046	protein-coding gene	gene with protein product		606146	"""frizzled (Drosophila) homolog 8"", ""frizzled homolog 8 (Drosophila)"", ""frizzled 8, seven transmembrane spanning receptor"", ""frizzled family receptor 8"""			11295046	Standard	NM_031866		Approved		uc001iyz.1	Q9H461	OTTHUMG00000017956	ENST00000374694.1:c.1468G>T	10.37:g.35928890C>A	ENSP00000363826:p.Val490Phe						p.V490F	NM_031866.2	NP_114072.1	Q9H461	FZD8_HUMAN			1	1472	-			490						Missense_Mutation	SNP	ENST00000374694.1	37	c.1468G>T	CCDS7192.1	.	.	.	.	.	.	.	.	.	.	C	7.844	0.722464	0.15439	.	.	ENSG00000177283	ENST00000374694	D	0.82344	-1.6	3.81	3.81	0.43845	GPCR, family 2-like (1);	0.000000	0.64402	U	0.000008	T	0.67627	0.2913	N	0.10685	0.025	0.46774	D	0.999193	B	0.31640	0.333	B	0.40329	0.326	T	0.64394	-0.6418	10	0.02654	T	1	.	12.2614	0.54652	0.0:0.7731:0.2269:0.0	.	490	Q9H461	FZD8_HUMAN	F	490	ENSP00000363826:V490F	ENSP00000363826:V490F	V	-	1	0	FZD8	35968896	0.999000	0.42202	1.000000	0.80357	0.318000	0.28184	2.411000	0.44600	2.104000	0.64026	0.289000	0.19496	GTC		0.662	FZD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047575.2	NM_031866		3	24	1	0	0.115264	1	0.115264	3	24				
WASF3	10810	broad.mit.edu	37	13	27255299	27255299	+	Silent	SNP	C	C	T	rs374111218		TCGA-RW-A68F-01A-11D-A35D-08	TCGA-RW-A68F-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0	394f8b07-8cbd-4f98-80a5-b757a66d82fe	g.chr13:27255299C>T	ENST00000335327.5	+	8	1003	c.825C>T	c.(823-825)caC>caT	p.H275H	WASF3_ENST00000361042.4_Silent_p.H272H	NM_006646.5	NP_006637.2	Q9UPY6	WASF3_HUMAN	WAS protein family, member 3	275					actin filament polymerization (GO:0030041)|cytoskeleton organization (GO:0007010)|lamellipodium assembly (GO:0030032)|oligodendrocyte development (GO:0014003)|positive regulation of myelination (GO:0031643)|protein complex assembly (GO:0006461)|regulation of cell shape (GO:0008360)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|lamellipodium (GO:0030027)				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)		TGCCACCACACGGGCCTGCAA	0.652																																						ENST00000361042.4																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|pancreas(1)|prostate(2)|skin(2)	22						c.(814-816)caC>caT		WAS protein family, member 3		C		0,4406		0,0,2203	69.0	76.0	73.0		825	-11.7	0.0	13		73	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	WASF3	NM_006646.5		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		275/503	27255299	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10810				actin filament polymerization	cytoplasm|cytoskeleton	actin binding	g.chr13:27255299C>T	AB020707	CCDS9318.1	13q12	2008-06-23			ENSG00000132970	ENSG00000132970			12734	protein-coding gene	gene with protein product		605068				10381382	Standard	NM_006646		Approved	WAVE3, SCAR3, KIAA0900	uc001uqv.3	Q9UPY6	OTTHUMG00000016621	ENST00000335327.5:c.825C>T	13.37:g.27255299C>T						WASF3_ENST00000335327.5_Silent_p.H275H	p.H272H			Q9UPY6	WASF3_HUMAN		all cancers(112;0.0114)|Epithelial(112;0.046)|OV - Ovarian serous cystadenocarcinoma(117;0.0547)|Lung(94;0.105)|LUSC - Lung squamous cell carcinoma(192;0.155)	8	1041	+	Colorectal(5;0.000247)	Lung SC(185;0.0156)|Breast(139;0.147)	275					O94974|Q86VQ2	Silent	SNP	ENST00000335327.5	37	c.816C>T	CCDS9318.1																																																																																				0.652	WASF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044258.1			4	135	0	0	0	1	0	4	135				
RAB35	11021	broad.mit.edu	37	12	120536942	120536942	+	Missense_Mutation	SNP	G	G	A			TCGA-RW-A68F-01A-11D-A35D-08	TCGA-RW-A68F-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0	394f8b07-8cbd-4f98-80a5-b757a66d82fe	g.chr12:120536942G>A	ENST00000229340.5	-	4	432	c.244C>T	c.(244-246)Cac>Tac	p.H82Y	RAB35_ENST00000432953.2_5'Flank|RAB35_ENST00000534951.1_Missense_Mutation_p.H82Y|RAB35_ENST00000543364.1_5'UTR	NM_001167606.1|NM_006861.6	NP_001161078.1|NP_006852.1	Q15286	RAB35_HUMAN	RAB35, member RAS oncogene family	82					antigen processing and presentation (GO:0019882)|cellular response to nerve growth factor stimulus (GO:1990090)|cytokinesis (GO:0000910)|endosomal transport (GO:0016197)|GTP catabolic process (GO:0006184)|neuron projection development (GO:0031175)|plasma membrane to endosome transport (GO:0048227)|protein localization (GO:0008104)|protein localization to endosome (GO:0036010)|protein transport (GO:0015031)|small GTPase mediated signal transduction (GO:0007264)	cell projection membrane (GO:0031253)|clathrin-coated endocytic vesicle (GO:0045334)|coated pit (GO:0005905)|endosome membrane (GO:0010008)|extracellular vesicular exosome (GO:0070062)|intercellular bridge (GO:0045171)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	GDP binding (GO:0019003)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|phosphatidylinositol-4,5-bisphosphate binding (GO:0005546)			endometrium(1)|ovary(1)	2	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)			BRCA - Breast invasive adenocarcinoma(302;0.248)		ATGACCCCGTGGGTCCCCCGA	0.597																																						ENST00000229340.5																			0				endometrium(1)|ovary(1)	2						c.(244-246)Cac>Tac		RAB35, member RAS oncogene family							68.0	73.0	71.0					12																	120536942		2043	4193	6236	SO:0001583	missense	11021				cytokinesis|endosome transport|protein transport|small GTPase mediated signal transduction	cell projection membrane|clathrin-coated endocytic vesicle|coated pit|endosome|intercellular bridge|melanosome	GTP binding|GTPase activity|phosphatidylinositol-4,5-bisphosphate binding	g.chr12:120536942G>A	X79781	CCDS41846.1, CCDS53836.1	12q24	2008-07-28			ENSG00000111737	ENSG00000111737		"""RAB, member RAS oncogene"""	9774	protein-coding gene	gene with protein product		604199					Standard	NM_001167606		Approved	H-ray	uc009zww.2	Q15286	OTTHUMG00000169159	ENST00000229340.5:c.244C>T	12.37:g.120536942G>A	ENSP00000229340:p.His82Tyr					RAB35_ENST00000543364.1_5'UTR|RAB35_ENST00000534951.1_Missense_Mutation_p.H82Y	p.H82Y	NM_001167606.1|NM_006861.6	NP_001161078.1|NP_006852.1	Q15286	RAB35_HUMAN		BRCA - Breast invasive adenocarcinoma(302;0.248)	4	432	-	all_neural(191;0.0804)|Medulloblastoma(191;0.0922)		82					B2R6E0|B4E390	Missense_Mutation	SNP	ENST00000229340.5	37	c.244C>T	CCDS41846.1	.	.	.	.	.	.	.	.	.	.	G	27.4	4.824260	0.90955	.	.	ENSG00000111737	ENST00000229340;ENST00000534951	T;T	0.80824	-1.42;-1.42	4.83	4.83	0.62350	Small GTP-binding protein domain (1);	0.000000	0.85682	D	0.000000	D	0.89213	0.6651	M	0.70903	2.155	0.80722	D	1	D;D	0.89917	0.999;1.0	D;D	0.97110	0.968;1.0	D	0.90299	0.4328	10	0.72032	D	0.01	.	18.1178	0.89561	0.0:0.0:1.0:0.0	.	82;82	B4E390;Q15286	.;RAB35_HUMAN	Y	82	ENSP00000229340:H82Y;ENSP00000441883:H82Y	ENSP00000229340:H82Y	H	-	1	0	RAB35	119021325	1.000000	0.71417	0.998000	0.56505	0.892000	0.51952	9.578000	0.98200	2.500000	0.84329	0.555000	0.69702	CAC		0.597	RAB35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402599.2			32	33	0	0	0	1	0	32	33				
KIAA0319	9856	broad.mit.edu	37	6	24596193	24596193	+	Missense_Mutation	SNP	G	G	A			TCGA-RW-A68F-01A-11D-A35D-08	TCGA-RW-A68F-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0	394f8b07-8cbd-4f98-80a5-b757a66d82fe	g.chr6:24596193G>A	ENST00000378214.3	-	3	1233	c.709C>T	c.(709-711)Ccc>Tcc	p.P237S	KIAA0319_ENST00000535378.1_Missense_Mutation_p.P228S|KIAA0319_ENST00000537886.1_Missense_Mutation_p.P237S|KIAA0319_ENST00000543707.1_Missense_Mutation_p.P237S|KIAA0319_ENST00000430948.2_Missense_Mutation_p.P192S	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	237					negative regulation of dendrite development (GO:2000171)|neuron migration (GO:0001764)	early endosome (GO:0005769)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						GTCGGCAAGGGAAGCAACACA	0.542																																						ENST00000535378.1																			0				breast(3)|endometrium(6)|kidney(3)|large_intestine(11)|lung(19)|ovary(1)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)	53						c.(682-684)Ccc>Tcc		KIAA0319							79.0	75.0	76.0					6																	24596193		2203	4300	6503	SO:0001583	missense	9856				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding	g.chr6:24596193G>A	AB002317	CCDS34348.1, CCDS54969.1, CCDS54970.1, CCDS54971.1, CCDS75409.1	6p22.3	2013-12-13			ENSG00000137261	ENSG00000137261			21580	protein-coding gene	gene with protein product	"""neuronal migration"""	609269				9205841, 15514892	Standard	NM_014809		Approved	NMIG	uc003neh.1	Q5VV43	OTTHUMG00000014358	ENST00000378214.3:c.709C>T	6.37:g.24596193G>A	ENSP00000367459:p.Pro237Ser					KIAA0319_ENST00000537886.1_Missense_Mutation_p.P237S|KIAA0319_ENST00000430948.2_Missense_Mutation_p.P192S|KIAA0319_ENST00000378214.3_Missense_Mutation_p.P237S|KIAA0319_ENST00000543707.1_Missense_Mutation_p.P237S	p.P228S	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN			4	1324	-			237					A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Missense_Mutation	SNP	ENST00000378214.3	37	c.682C>T	CCDS34348.1	.	.	.	.	.	.	.	.	.	.	G	9.583	1.124025	0.20959	.	.	ENSG00000137261	ENST00000537886;ENST00000535378;ENST00000430948;ENST00000378214;ENST00000543707	T;T;T;T;T	0.08720	3.06;3.16;3.17;3.08;3.08	3.31	0.961	0.19638	.	1.195290	0.06264	N	0.694525	T	0.00845	0.0028	N	0.14661	0.345	0.09310	N	1	B;B;B	0.16603	0.018;0.017;0.01	B;B;B	0.14578	0.011;0.011;0.005	T	0.41124	-0.9526	10	0.02654	T	1	-3.2495	0.5261	0.00620	0.3815:0.1767:0.2628:0.179	.	237;228;237	F5H123;Q5VV43-2;Q5VV43	.;.;K0319_HUMAN	S	237;228;192;237;237	ENSP00000439700:P237S;ENSP00000442403:P228S;ENSP00000401086:P192S;ENSP00000367459:P237S;ENSP00000437656:P237S	ENSP00000367459:P237S	P	-	1	0	KIAA0319	24704172	0.000000	0.05858	0.333000	0.25482	0.773000	0.43773	-0.387000	0.07361	0.405000	0.25532	0.609000	0.83330	CCC		0.542	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040009.1	NM_014809		15	64	0	0	0	1	0	15	64				
ZMYND10	51364	broad.mit.edu	37	3	50379081	50379081	+	Missense_Mutation	SNP	G	G	A	rs150467144	byFrequency	TCGA-RW-A68F-01A-11D-A35D-08	TCGA-RW-A68F-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0	394f8b07-8cbd-4f98-80a5-b757a66d82fe	g.chr3:50379081G>A	ENST00000231749.3	-	11	2443	c.1171C>T	c.(1171-1173)Cgg>Tgg	p.R391W	ZMYND10_ENST00000360165.3_Missense_Mutation_p.R386W|ZMYND10-AS1_ENST00000440013.1_RNA|RASSF1_ENST00000357043.2_5'Flank|RASSF1_ENST00000488024.1_5'Flank|RASSF1_ENST00000359365.4_5'Flank|ZMYND10_ENST00000490675.1_5'UTR	NM_015896.2	NP_056980.2	O75800	ZMY10_HUMAN	zinc finger, MYND-type containing 10	391	Interaction with LRRC6.				inner dynein arm assembly (GO:0036159)|motile cilium assembly (GO:0044458)|outer dynein arm assembly (GO:0036158)	centriolar satellite (GO:0034451)|cytoplasm (GO:0005737)	metal ion binding (GO:0046872)			endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|urinary_tract(2)	14				BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)		CAGCGGGGCCGCTCTGGAGCC	0.602										TSP Lung(30;0.18)																												ENST00000231749.3																			0				endometrium(3)|kidney(2)|large_intestine(1)|lung(5)|ovary(1)|urinary_tract(2)	14						c.(1171-1173)Cgg>Tgg		zinc finger, MYND-type containing 10		G	TRP/ARG	0,4406		0,0,2203	56.0	59.0	58.0		1171	-1.0	0.9	3	dbSNP_134	58	6,8594	5.0+/-18.6	0,6,4294	yes	missense	ZMYND10	NM_015896.2	101	0,6,6497	AA,AG,GG		0.0698,0.0,0.0461	probably-damaging	391/441	50379081	6,13000	2203	4300	6503	SO:0001583	missense	51364					cytoplasm	protein binding|zinc ion binding	g.chr3:50379081G>A	U70824	CCDS2825.1	3p21.3	2014-02-03			ENSG00000004838	ENSG00000004838		"""Zinc fingers, MYND-type"""	19412	protein-coding gene	gene with protein product		607070				12629521, 23891469	Standard	NM_015896		Approved	BLU, CILD22	uc003dag.1	O75800	OTTHUMG00000156874	ENST00000231749.3:c.1171C>T	3.37:g.50379081G>A	ENSP00000231749:p.Arg391Trp	TSP Lung(30;0.18)				ZMYND10_ENST00000360165.3_Missense_Mutation_p.R386W|ZMYND10_ENST00000490675.1_5'UTR|ZMYND10-AS1_ENST00000440013.1_RNA	p.R391W	NM_015896.2	NP_056980.2	O75800	ZMY10_HUMAN		BRCA - Breast invasive adenocarcinoma(193;0.000272)|KIRC - Kidney renal clear cell carcinoma(197;0.00544)|Kidney(197;0.00607)	11	2443	-			391					A6NK41|B3KU54|O14570|O75801|Q53FE6|Q8N4R6|Q8NDN6	Missense_Mutation	SNP	ENST00000231749.3	37	c.1171C>T	CCDS2825.1	.	.	.	.	.	.	.	.	.	.	G	19.45	3.829812	0.71258	0.0	6.98E-4	ENSG00000004838	ENST00000231749;ENST00000360165	.	.	.	5.57	-1.04	0.10068	.	0.097978	0.64402	D	0.000002	T	0.46639	0.1403	N	0.14661	0.345	0.35609	D	0.808469	D;D	0.71674	0.998;0.997	P;P	0.58970	0.849;0.692	T	0.57837	-0.7742	9	0.72032	D	0.01	-8.3753	11.8423	0.52361	0.0:0.0812:0.1619:0.7569	.	386;391	O75800-2;O75800	.;ZMY10_HUMAN	W	391;386	.	ENSP00000231749:R391W	R	-	1	2	ZMYND10	50354085	1.000000	0.71417	0.911000	0.35937	0.718000	0.41266	3.108000	0.50337	-0.056000	0.13221	-0.181000	0.13052	CGG		0.602	ZMYND10-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000346376.1	NM_015896		4	59	0	0	0	1	0	4	59				
BDP1	55814	broad.mit.edu	37	5	70757730	70757730	+	Silent	SNP	T	T	C			TCGA-RW-A68F-01A-11D-A35D-08	TCGA-RW-A68F-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0	394f8b07-8cbd-4f98-80a5-b757a66d82fe	g.chr5:70757730T>C	ENST00000358731.4	+	3	839	c.576T>C	c.(574-576)taT>taC	p.Y192Y	BDP1_ENST00000380675.2_5'UTR	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN	B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB	192	Interaction with ZBTB43.				gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase III promoter (GO:0006383)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)		TCATATATTATCTACCAGATA	0.308																																						ENST00000358731.4																			0				NS(2)|breast(3)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(13)|lung(34)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	72						c.(574-576)taT>taC		B double prime 1, subunit of RNA polymerase III transcription initiation factor IIIB							80.0	84.0	83.0					5																	70757730		1855	4097	5952	SO:0001819	synonymous_variant	55814				regulation of transcription, DNA-dependent|transcription from RNA polymerase III promoter	nucleoplasm	DNA binding	g.chr5:70757730T>C	AF298151	CCDS43328.1	5q12-q13	2008-02-05	2001-11-29	2001-11-30	ENSG00000145734	ENSG00000145734			13652	protein-coding gene	gene with protein product		607012	"""TATA box binding protein (TBP)-associated factor, RNA polymerase III, GTF3B subunit 1"""	TFNR, TAF3B1		11214970, 11040218	Standard	NM_018429		Approved	TFIIIB150, TFC5, TFIIIB90, KIAA1689, HSA238520, KIAA1241	uc003kbp.1	A6H8Y1	OTTHUMG00000162506	ENST00000358731.4:c.576T>C	5.37:g.70757730T>C						BDP1_ENST00000380675.2_5'UTR	p.Y192Y	NM_018429.2	NP_060899.2	A6H8Y1	BDP1_HUMAN		OV - Ovarian serous cystadenocarcinoma(47;5.28e-56)|Epithelial(20;2.31e-50)	3	839	+		Lung NSC(167;0.000422)|Prostate(74;0.00815)|Ovarian(174;0.0176)|Breast(144;0.198)	192			Interaction with ZBTB43.		Q68DS6|Q68DY5|Q6MZL9|Q6PIM7|Q86W98|Q96LR8|Q9C0H4|Q9H197|Q9H1A1|Q9HAW1|Q9HAW2|Q9HCY0|Q9ULH9	Silent	SNP	ENST00000358731.4	37	c.576T>C	CCDS43328.1																																																																																				0.308	BDP1-016	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000374681.2	NM_018429		8	148	0	0	0	1	0	8	148				
MLXIP	22877	broad.mit.edu	37	12	122611891	122611891	+	Missense_Mutation	SNP	C	C	T			TCGA-RW-A68F-01A-11D-A35D-08	TCGA-RW-A68F-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0	394f8b07-8cbd-4f98-80a5-b757a66d82fe	g.chr12:122611891C>T	ENST00000319080.7	+	2	634	c.502C>T	c.(502-504)Cgg>Tgg	p.R168W						MLX interacting protein											NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)		TGCCATCTGGCGGGCCTGGTA	0.587																																					Esophageal Squamous(105;787 1493 16200 18566 52466)	ENST00000319080.6																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(7)|ovary(3)	20						c.(502-504)Cgg>Tgg		MLX interacting protein							55.0	54.0	54.0					12																	122611891		1947	4159	6106	SO:0001583	missense	22877				regulation of transcription, DNA-dependent|transcription, DNA-dependent	mitochondrial outer membrane|nucleus	DNA binding	g.chr12:122611891C>T	AB020674	CCDS73540.1	12q21.31	2013-05-21				ENSG00000175727		"""Basic helix-loop-helix proteins"""	17055	protein-coding gene	gene with protein product		608090				10048485, 11073985	Standard	XM_006719290		Approved	MONDOA, KIAA0867, MIR, bHLHe36	uc001ubq.3	Q9HAP2		ENST00000319080.7:c.502C>T	12.37:g.122611891C>T	ENSP00000312834:p.Arg168Trp						p.R168W			Q9HAP2	MLXIP_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;0.000599)|Epithelial(86;0.00102)|BRCA - Breast invasive adenocarcinoma(302;0.233)	2	634	+	all_neural(191;0.0837)|Medulloblastoma(191;0.163)	Lung NSC(355;0.0659)	168			Required for cytoplasmic localization.			Missense_Mutation	SNP	ENST00000319080.7	37	c.502C>T		.	.	.	.	.	.	.	.	.	.	C	21.1	4.104927	0.77096	.	.	ENSG00000175727	ENST00000319080	T	0.35973	1.28	5.44	4.52	0.55395	.	0.000000	0.85682	D	0.000000	T	0.59985	0.2234	.	.	.	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.64685	-0.6349	9	0.87932	D	0	-33.7772	12.485	0.55868	0.4807:0.5193:0.0:0.0	.	168	Q9HAP2	MLXIP_HUMAN	W	168	ENSP00000312834:R168W	ENSP00000312834:R168W	R	+	1	2	MLXIP	121177845	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	2.282000	0.43461	1.221000	0.43506	0.655000	0.94253	CGG		0.587	MLXIP-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000401718.2	NM_014938		12	15	0	0	0	1	0	12	15				
DCC	1630	broad.mit.edu	37	18	50734115	50734115	+	Nonsense_Mutation	SNP	C	C	T			TCGA-RW-A68F-01A-11D-A35D-08	TCGA-RW-A68F-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0	394f8b07-8cbd-4f98-80a5-b757a66d82fe	g.chr18:50734115C>T	ENST00000442544.2	+	11	2405	c.1789C>T	c.(1789-1791)Cga>Tga	p.R597*	DCC_ENST00000412726.1_Nonsense_Mutation_p.R445*|DCC_ENST00000581580.1_Nonsense_Mutation_p.R252*	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN	DCC netrin 1 receptor	597	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|axonogenesis (GO:0007409)|dorsal/ventral axon guidance (GO:0033563)|negative regulation of collateral sprouting (GO:0048671)|negative regulation of dendrite development (GO:2000171)|negative regulation of neuron projection development (GO:0010977)|neuron migration (GO:0001764)|positive regulation of apoptotic process (GO:0043065)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of neuron projection development (GO:0010976)|regulation of apoptotic process (GO:0042981)|response to amphetamine (GO:0001975)|spinal cord ventral commissure morphogenesis (GO:0021965)	axon (GO:0030424)|cytosol (GO:0005829)|growth cone membrane (GO:0032584)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)|transcription coactivator activity (GO:0003713)|transmembrane signaling receptor activity (GO:0004888)			NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148		all_cancers(7;0.11)|all_epithelial(6;0.00126)		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)		ATATAGTCTTCGATTCTTAGC	0.373																																						ENST00000442544.2																			0				NS(3)|breast(2)|central_nervous_system(1)|cervix(2)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(23)|liver(1)|lung(56)|ovary(7)|pancreas(3)|prostate(2)|skin(16)|stomach(2)|upper_aerodigestive_tract(4)|urinary_tract(6)	148						c.(1789-1791)Cga>Tga		deleted in colorectal carcinoma							146.0	152.0	150.0					18																	50734115		2203	4300	6503	SO:0001587	stop_gained	1630				apoptosis|induction of apoptosis|negative regulation of collateral sprouting|negative regulation of dendrite development	cytosol|integral to membrane		g.chr18:50734115C>T	X76132	CCDS11952.1	18q21.1	2014-06-20	2014-06-20		ENSG00000187323	ENSG00000187323		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	2701	protein-coding gene	gene with protein product	"""immunoglobulin superfamily, DCC subclass, member 1"""	120470	"""deleted in colorectal carcinoma"""			2294591, 24400119	Standard	NM_005215		Approved	IGDCC1, NTN1R1	uc002lfe.2	P43146	OTTHUMG00000132698	ENST00000442544.2:c.1789C>T	18.37:g.50734115C>T	ENSP00000389140:p.Arg597*					DCC_ENST00000581580.1_Nonsense_Mutation_p.R252*|DCC_ENST00000412726.1_Nonsense_Mutation_p.R445*	p.R597*	NM_005215.3	NP_005206.2	P43146	DCC_HUMAN		Colorectal(16;0.0251)|COAD - Colon adenocarcinoma(17;0.0942)	11	2405	+		all_cancers(7;0.11)|all_epithelial(6;0.00126)	597			Fibronectin type-III 2.			Nonsense_Mutation	SNP	ENST00000442544.2	37	c.1789C>T	CCDS11952.1	.	.	.	.	.	.	.	.	.	.	C	39	7.810868	0.98501	.	.	ENSG00000187323	ENST00000442544;ENST00000304775;ENST00000412726	.	.	.	5.83	5.83	0.93111	.	0.000000	0.64402	D	0.000006	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	13.8105	0.63260	0.1533:0.8467:0.0:0.0	.	.	.	.	X	597;530;445	.	ENSP00000304146:R530X	R	+	1	2	DCC	48988113	1.000000	0.71417	1.000000	0.80357	0.976000	0.68499	2.599000	0.46231	2.775000	0.95449	0.650000	0.86243	CGA		0.373	DCC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255996.3	NM_005215		5	211	0	0	0	1	0	5	211				
MTHFD1L	25902	broad.mit.edu	37	6	151336057	151336057	+	Silent	SNP	G	G	A			TCGA-RW-A68F-01A-11D-A35D-08	TCGA-RW-A68F-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0	394f8b07-8cbd-4f98-80a5-b757a66d82fe	g.chr6:151336057G>A	ENST00000367321.3	+	23	2623	c.2349G>A	c.(2347-2349)aaG>aaA	p.K783K		NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN	methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like	783	Formyltetrahydrofolate synthetase.				folic acid-containing compound biosynthetic process (GO:0009396)|folic acid-containing compound metabolic process (GO:0006760)|formate metabolic process (GO:0015942)|one-carbon metabolic process (GO:0006730)|oxidation-reduction process (GO:0055114)|tetrahydrofolate interconversion (GO:0035999)|tetrahydrofolate metabolic process (GO:0046653)	membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|formate-tetrahydrofolate ligase activity (GO:0004329)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29		Ovarian(120;0.128)		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)		ACCTCCAGAAGCAAATTCAGA	0.478											OREG0017732	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000367321.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(12)|lung(8)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)	29						c.(2347-2349)aaG>aaA		methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like							140.0	118.0	125.0					6																	151336057		2203	4300	6503	SO:0001819	synonymous_variant	25902				folic acid-containing compound biosynthetic process|formate metabolic process|one-carbon metabolic process|tetrahydrofolate metabolic process	mitochondrion	ATP binding|formate-tetrahydrofolate ligase activity|protein homodimerization activity	g.chr6:151336057G>A	BC017477	CCDS5228.1, CCDS56457.1, CCDS75535.1, CCDS75536.1	6q25.1	2010-07-19	2004-12-13	2004-12-14	ENSG00000120254	ENSG00000120254	6.3.4.3		21055	protein-coding gene	gene with protein product	"""10-formyl-THF synthetase"", ""mitochondrial C1-tetrahydrofolate synthase"", ""monofunctional C1-tetrahydrofolate synthase, mitochondrial"""	611427	"""formyltetrahydrofolate synthetase domain containing 1"""	FTHFSDC1		18804703	Standard	NM_015440		Approved	DKFZP586G1517, FLJ21145	uc021zgs.1	Q6UB35	OTTHUMG00000015828	ENST00000367321.3:c.2349G>A	6.37:g.151336057G>A			OREG0017732	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1739		p.K783K	NM_001242767.1|NM_001242768.1|NM_015440.4	NP_001229696.1|NP_001229697.1|NP_056255.2	Q6UB35	C1TM_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;8.7e-12)	23	2623	+		Ovarian(120;0.128)	783			Formyltetrahydrofolate synthetase.		Q2TBF3|Q8WVW0|Q96HG8|Q9H789|Q9UFU8	Silent	SNP	ENST00000367321.3	37	c.2349G>A	CCDS5228.1																																																																																				0.478	MTHFD1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042699.1	NM_015440		4	73	0	0	0	1	0	4	73				
PAK3	5063	broad.mit.edu	37	X	110439691	110439691	+	Silent	SNP	C	C	G			TCGA-RW-A68F-01A-11D-A35D-08	TCGA-RW-A68F-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0	394f8b07-8cbd-4f98-80a5-b757a66d82fe	g.chrX:110439691C>G	ENST00000372010.1	+	17	1717	c.1275C>G	c.(1273-1275)gcC>gcG	p.A425A	PAK3_ENST00000446737.1_Silent_p.A410A|PAK3_ENST00000417227.1_Silent_p.A431A|PAK3_ENST00000425146.1_Silent_p.A410A|PAK3_ENST00000360648.4_Silent_p.A446A|PAK3_ENST00000372007.5_Silent_p.A410A|PAK3_ENST00000262836.4_Silent_p.A425A|PAK3_ENST00000518291.1_Silent_p.A446A|PAK3_ENST00000519681.1_Silent_p.A431A			O75914	PAK3_HUMAN	p21 protein (Cdc42/Rac)-activated kinase 3	425	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|axonogenesis (GO:0007409)|dendrite development (GO:0016358)|dendritic spine morphogenesis (GO:0060997)|MAPK cascade (GO:0000165)|regulation of actin filament polymerization (GO:0030833)|synapse organization (GO:0050808)	cytoplasm (GO:0005737)	ATP binding (GO:0005524)|MAP kinase kinase activity (GO:0004708)|metal ion binding (GO:0046872)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						GGTTCTGTGCCCAGATCACTC	0.433										TSP Lung(19;0.15)																												ENST00000519681.1																			0				breast(1)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(7)|lung(15)|ovary(3)|pancreas(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	41						c.(1291-1293)gcC>gcG		p21 protein (Cdc42/Rac)-activated kinase 3							127.0	124.0	125.0					X																	110439691		2203	4300	6503	SO:0001819	synonymous_variant	5063				multicellular organismal development		ATP binding|metal ion binding|protein serine/threonine kinase activity|SH3 domain binding	g.chrX:110439691C>G	AF068864	CCDS14554.1, CCDS48151.1, CCDS48152.1, CCDS48153.1	Xq22.3	2008-06-17	2008-06-17		ENSG00000077264	ENSG00000077264			8592	protein-coding gene	gene with protein product		300142	"""mental retardation, X-linked 47"", ""p21 (CDKN1A)-activated kinase 3"""	MRX30, MRX47		8826460, 9731525	Standard	NM_002578		Approved	hPAK3, bPAK	uc010npv.1	O75914	OTTHUMG00000022202	ENST00000372010.1:c.1275C>G	X.37:g.110439691C>G		TSP Lung(19;0.15)				PAK3_ENST00000446737.1_Silent_p.A410A|PAK3_ENST00000425146.1_Silent_p.A410A|PAK3_ENST00000372007.4_Silent_p.A410A|PAK3_ENST00000372010.1_Silent_p.A425A|PAK3_ENST00000518291.1_Silent_p.A446A|PAK3_ENST00000360648.4_Silent_p.A446A|PAK3_ENST00000262836.4_Silent_p.A425A|PAK3_ENST00000417227.1_Silent_p.A431A	p.A431A			O75914	PAK3_HUMAN			17	1735	+			425			Protein kinase.		A8K389|B1GX77|B1GX78|B1GX79|Q5JWX1|Q5JWX2|Q7Z2D6|Q7Z2E4|Q7Z3Z8|Q8WWK5|Q8WX23|Q9P0J8	Silent	SNP	ENST00000372010.1	37	c.1293C>G	CCDS48153.1																																																																																				0.433	PAK3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057918.1	NM_002578		13	115	0	0	0	1	0	13	115				
NCOA3	8202	broad.mit.edu	37	20	46279860	46279860	+	Silent	SNP	G	G	A	rs151060280	byFrequency	TCGA-RW-A68F-01A-11D-A35D-08	TCGA-RW-A68F-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0	394f8b07-8cbd-4f98-80a5-b757a66d82fe	g.chr20:46279860G>A	ENST00000371998.3	+	20	3977	c.3786G>A	c.(3784-3786)caG>caA	p.Q1262Q	NCOA3_ENST00000341724.6_Silent_p.Q1188Q|NCOA3_ENST00000372004.3_Silent_p.Q1258Q|NCOA3_ENST00000371997.3_Silent_p.Q1253Q			Q9Y6Q9	NCOA3_HUMAN	nuclear receptor coactivator 3	1262	Acetyltransferase.|Poly-Gln.				androgen receptor signaling pathway (GO:0030521)|developmental growth (GO:0048589)|histone acetylation (GO:0016573)|labyrinthine layer morphogenesis (GO:0060713)|mammary gland branching involved in thelarche (GO:0060744)|multicellular organism growth (GO:0035264)|positive regulation of gene expression (GO:0010628)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|receptor transactivation (GO:0035624)|regulation of RNA biosynthetic process (GO:2001141)|transcription, DNA-templated (GO:0006351)|vagina development (GO:0060068)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|chromatin binding (GO:0003682)|histone acetyltransferase activity (GO:0004402)|ligand-dependent nuclear receptor binding (GO:0016922)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|nuclear hormone receptor binding (GO:0035257)|protein N-terminus binding (GO:0047485)|signal transducer activity (GO:0004871)|thyroid hormone receptor binding (GO:0046966)|transcription coactivator activity (GO:0003713)	p.Q1262Q(1)		breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						agcagcagcagcagcaacagc	0.567																																						ENST00000372004.3																			1	Substitution - coding silent(1)	p.Q1262Q(1)	endometrium(1)	breast(3)|endometrium(3)|kidney(4)|large_intestine(12)|lung(19)|ovary(4)|prostate(2)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	52						c.(3772-3774)caG>caA		nuclear receptor coactivator 3		G	,,,	10,4396	11.4+/-27.6	1,8,2194	53.0	58.0	56.0		3783,3759,3774,3786	-0.1	0.1	20	dbSNP_134	56	12,8588	9.1+/-34.3	0,12,4288	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	NCOA3	NM_001174087.1,NM_001174088.1,NM_006534.3,NM_181659.2	,,,	1,20,6482	AA,AG,GG		0.1395,0.227,0.1692	,,,	1261/1424,1253/1416,1258/1421,1262/1425	46279860	22,12984	2203	4300	6503	SO:0001819	synonymous_variant	8202				androgen receptor signaling pathway|cellular lipid metabolic process|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nucleoplasm	androgen receptor binding|histone acetyltransferase activity|ligand-dependent nuclear receptor binding|protein N-terminus binding|signal transducer activity|thyroid hormone receptor binding	g.chr20:46279860G>A	AF012108	CCDS13406.1, CCDS13407.1, CCDS54472.1	20q12	2011-07-01			ENSG00000124151	ENSG00000124151		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""Basic helix-loop-helix proteins"""	7670	protein-coding gene	gene with protein product	"""receptor-associated coactivator 3"", ""thyroid hormone receptor activator molecule 1"""	601937				9252329, 9346901	Standard	NM_181659		Approved	RAC3, AIB1, ACTR, p/CIP, TRAM-1, CAGH16, TNRC16, KAT13B, bHLHe42, SRC-3, SRC3	uc002xtk.3	Q9Y6Q9	OTTHUMG00000033061	ENST00000371998.3:c.3786G>A	20.37:g.46279860G>A						NCOA3_ENST00000371997.3_Silent_p.Q1253Q|NCOA3_ENST00000371998.3_Silent_p.Q1262Q|NCOA3_ENST00000341724.6_Silent_p.Q1188Q	p.Q1258Q	NM_001174087.1|NM_001174088.1|NM_006534.3|NM_181659.2	NP_001167558.1|NP_001167559.1|NP_006525.2|NP_858045.1	Q9Y6Q9	NCOA3_HUMAN			20	3990	+			1262			Acetyltransferase.|Poly-Gln.		A4LAZ5|Q0VF45|Q5JYD9|Q5JYE0|Q9BR49|Q9UPC9|Q9UPG4|Q9UPG7	Silent	SNP	ENST00000371998.3	37	c.3774G>A	CCDS13407.1																																																																																				0.567	NCOA3-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000080405.1	NM_006534		6	57	0	0	0	1	0	6	57				
RSF1	51773	broad.mit.edu	37	11	77386295	77386295	+	Silent	SNP	T	T	C			TCGA-RW-A68F-01A-11D-A35D-08	TCGA-RW-A68F-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0	394f8b07-8cbd-4f98-80a5-b757a66d82fe	g.chr11:77386295T>C	ENST00000308488.6	-	14	3650	c.3348A>G	c.(3346-3348)caA>caG	p.Q1116Q	RSF1_ENST00000360355.2_Silent_p.Q1085Q|RSF1_ENST00000480887.1_Silent_p.Q864Q			Q96T23	RSF1_HUMAN	remodeling and spacing factor 1	1116					CENP-A containing nucleosome assembly (GO:0034080)|chromatin remodeling (GO:0006338)|DNA-templated transcription, initiation (GO:0006352)|negative regulation of DNA binding (GO:0043392)|negative regulation of transcription, DNA-templated (GO:0045892)|nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of viral transcription (GO:0050434)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|RSF complex (GO:0031213)	histone binding (GO:0042393)|zinc ion binding (GO:0008270)			breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)			CAAACTCATCTTGAGATCTGT	0.398																																						ENST00000308488.6																			0				breast(3)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(9)|lung(14)|ovary(2)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	43						c.(3346-3348)caA>caG		remodeling and spacing factor 1							75.0	71.0	73.0					11																	77386295		2200	4292	6492	SO:0001819	synonymous_variant	51773				CenH3-containing nucleosome assembly at centromere|negative regulation of DNA binding|negative regulation of transcription, DNA-dependent|nucleosome positioning|positive regulation of transcription, DNA-dependent|positive regulation of viral transcription|transcription initiation, DNA-dependent	RSF complex	histone binding|protein binding|zinc ion binding	g.chr11:77386295T>C	AF380176, AF227948	CCDS8253.1	11q14.1	2013-01-28	2006-05-25	2006-05-25	ENSG00000048649	ENSG00000048649		"""Zinc fingers, PHD-type"""	18118	protein-coding gene	gene with protein product		608522	"""hepatitis B virus x associated protein"""	HBXAP		11788598, 12972596	Standard	NM_016578		Approved	XAP8, RSF-1, p325	uc001oyn.3	Q96T23	OTTHUMG00000150433	ENST00000308488.6:c.3348A>G	11.37:g.77386295T>C						RSF1_ENST00000480887.1_Silent_p.Q864Q|RSF1_ENST00000360355.2_Silent_p.Q1085Q	p.Q1116Q			Q96T23	RSF1_HUMAN	Epithelial(5;3e-50)|all cancers(3;6.37e-47)|BRCA - Breast invasive adenocarcinoma(5;9.82e-31)		14	3650	-	all_cancers(14;1.54e-17)|all_epithelial(13;4.06e-20)|Ovarian(111;0.152)		1116					Q86X86|Q9H3L8|Q9NVZ8|Q9NYU0	Silent	SNP	ENST00000308488.6	37	c.3348A>G	CCDS8253.1																																																																																				0.398	RSF1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318075.2	NM_016578		16	8	0	0	0	1	0	16	8				
ECHDC2	55268	broad.mit.edu	37	1	53377454	53377454	+	Missense_Mutation	SNP	C	C	T			TCGA-RW-A68F-01A-11D-A35D-08	TCGA-RW-A68F-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0	394f8b07-8cbd-4f98-80a5-b757a66d82fe	g.chr1:53377454C>T	ENST00000371522.4	-	2	223	c.130G>A	c.(130-132)Gag>Aag	p.E44K	ECHDC2_ENST00000358358.5_Missense_Mutation_p.E44K|ECHDC2_ENST00000536120.1_5'UTR|ECHDC2_ENST00000480312.2_5'UTR|ECHDC2_ENST00000541281.1_5'UTR	NM_001198961.1	NP_001185890.1	Q86YB7	ECHD2_HUMAN	enoyl CoA hydratase domain containing 2	44					fatty acid metabolic process (GO:0006631)	mitochondrion (GO:0005739)	lyase activity (GO:0016829)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	12						ATCAGAATCTCAGTGATCCCT	0.617																																						ENST00000371522.4																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	12						c.(130-132)Gag>Aag		enoyl CoA hydratase domain containing 2							56.0	52.0	53.0					1																	53377454		2203	4300	6503	SO:0001583	missense	55268				fatty acid metabolic process	mitochondrion	lyase activity	g.chr1:53377454C>T	AF258590	CCDS571.1, CCDS55600.1, CCDS72794.1	1p32.3	2010-04-30	2010-04-30		ENSG00000121310	ENSG00000121310			23408	protein-coding gene	gene with protein product			"""enoyl Coenzyme A hydratase domain containing 2"""				Standard	NM_018281		Approved	FLJ10948	uc001cup.4	Q86YB7	OTTHUMG00000008927	ENST00000371522.4:c.130G>A	1.37:g.53377454C>T	ENSP00000360577:p.Glu44Lys					ECHDC2_ENST00000536120.1_5'UTR|ECHDC2_ENST00000541281.1_5'UTR|ECHDC2_ENST00000480312.2_5'UTR|ECHDC2_ENST00000358358.5_Missense_Mutation_p.E44K	p.E44K	NM_001198961.1	NP_001185890.1	Q86YB7	ECHD2_HUMAN			2	223	-			44					D3DQ36|Q9NV38	Missense_Mutation	SNP	ENST00000371522.4	37	c.130G>A	CCDS55600.1	.	.	.	.	.	.	.	.	.	.	C	26.8	4.773232	0.90108	.	.	ENSG00000121310	ENST00000371522;ENST00000358358;ENST00000467988	T;T;T	0.76448	-1.02;-1.02;-1.02	4.47	4.47	0.54385	Crotonase, core (1);	0.051658	0.85682	D	0.000000	T	0.73087	0.3542	N	0.17474	0.49	0.80722	D	1	P;D	0.61697	0.933;0.99	P;P	0.53689	0.639;0.732	T	0.76096	-0.3084	10	0.49607	T	0.09	.	14.5323	0.67934	0.0:1.0:0.0:0.0	.	44;44	Q86YB7;Q86YB7-2	ECHD2_HUMAN;.	K	44	ENSP00000360577:E44K;ENSP00000351125:E44K;ENSP00000441962:E44K	ENSP00000351125:E44K	E	-	1	0	ECHDC2	53150042	1.000000	0.71417	1.000000	0.80357	0.895000	0.52256	4.919000	0.63383	2.470000	0.83445	0.561000	0.74099	GAG		0.617	ECHDC2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024712.3	NM_018281		22	15	0	0	0	1	0	22	15				
SEMA3E	9723	broad.mit.edu	37	7	83029537	83029537	+	Silent	SNP	G	G	A	rs370540865		TCGA-RW-A68F-01A-11D-A35D-08	TCGA-RW-A68F-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0	394f8b07-8cbd-4f98-80a5-b757a66d82fe	g.chr7:83029537G>A	ENST00000307792.3	-	11	1640	c.1173C>T	c.(1171-1173)taC>taT	p.Y391Y	SEMA3E_ENST00000427262.1_Silent_p.Y331Y	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN	sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E	391	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|negative regulation of angiogenesis (GO:0016525)|negative regulation of cell-matrix adhesion (GO:0001953)|patterning of blood vessels (GO:0001569)|regulation of actin cytoskeleton reorganization (GO:2000249)|regulation of cell shape (GO:0008360)|semaphorin-plexin signaling pathway (GO:0071526)|sprouting angiogenesis (GO:0002040)|synapse organization (GO:0050808)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|membrane (GO:0016020)	receptor activity (GO:0004872)			breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51		Medulloblastoma(109;0.109)				TGGTGGTTCCGTATCTCCCTC	0.388																																						ENST00000307792.3																			0				breast(1)|endometrium(3)|kidney(4)|large_intestine(12)|liver(1)|lung(19)|ovary(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(3)	51						c.(1171-1173)taC>taT		sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E		A	,	0,4406		0,0,2203	164.0	152.0	156.0		993,1173	-11.0	0.0	7		156	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	SEMA3E	NM_001178129.1,NM_012431.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	331/716,391/776	83029537	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9723				axon guidance	extracellular space|membrane	receptor activity	g.chr7:83029537G>A	AB002329	CCDS34674.1, CCDS55121.1	7q21.11	2013-01-11			ENSG00000170381	ENSG00000170381		"""Semaphorins"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10727	protein-coding gene	gene with protein product	"""M-sema H"""	608166		SEMAH		9205841, 9515811	Standard	NM_012431		Approved	M-SemaK, KIAA0331, coll-5	uc003uhy.2	O15041	OTTHUMG00000154693	ENST00000307792.3:c.1173C>T	7.37:g.83029537G>A						SEMA3E_ENST00000427262.1_Silent_p.Y331Y	p.Y391Y	NM_012431.2	NP_036563.1	O15041	SEM3E_HUMAN			11	1640	-		Medulloblastoma(109;0.109)	391			Sema.		B4E1P1|Q75M94|Q75M97	Silent	SNP	ENST00000307792.3	37	c.1173C>T	CCDS34674.1																																																																																				0.388	SEMA3E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336606.1	NM_012431		4	105	0	0	0	1	0	4	105				
C3orf20	84077	broad.mit.edu	37	3	14745942	14745942	+	Missense_Mutation	SNP	G	G	A			TCGA-RW-A68F-01A-11D-A35D-08	TCGA-RW-A68F-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0	394f8b07-8cbd-4f98-80a5-b757a66d82fe	g.chr3:14745942G>A	ENST00000253697.3	+	7	1429	c.977G>A	c.(976-978)cGc>cAc	p.R326H	C3orf20_ENST00000412910.1_Missense_Mutation_p.R204H|C3orf20_ENST00000435614.1_Missense_Mutation_p.R204H|C3orf20_ENST00000495387.1_3'UTR	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN	chromosome 3 open reading frame 20	326						cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)		p.R326H(1)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						ATGTTGGCCCGCAAAGGAGAC	0.517																																						ENST00000253697.3																			1	Substitution - Missense(1)	p.R326H(1)	kidney(1)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|kidney(2)|large_intestine(13)|lung(11)|ovary(4)|skin(2)	40						c.(976-978)cGc>cAc		chromosome 3 open reading frame 20							134.0	144.0	141.0					3																	14745942		2203	4300	6503	SO:0001583	missense	84077					cytoplasm|integral to membrane		g.chr3:14745942G>A	AL136781	CCDS33706.1, CCDS54555.1	3p25.1	2011-01-25			ENSG00000131379	ENSG00000131379			25320	protein-coding gene	gene with protein product						11230166	Standard	NM_032137		Approved	DKFZP434N1817	uc003byy.3	Q8ND61	OTTHUMG00000155545	ENST00000253697.3:c.977G>A	3.37:g.14745942G>A	ENSP00000253697:p.Arg326His					C3orf20_ENST00000495387.1_3'UTR|C3orf20_ENST00000412910.1_Missense_Mutation_p.R204H|C3orf20_ENST00000435614.1_Missense_Mutation_p.R204H	p.R326H	NM_032137.4	NP_115513.4	Q8ND61	CC020_HUMAN			7	1429	+			326					Q7L0U6|Q8NCP2|Q9H0I7	Missense_Mutation	SNP	ENST00000253697.3	37	c.977G>A	CCDS33706.1	.	.	.	.	.	.	.	.	.	.	G	1.916	-0.449558	0.04572	.	.	ENSG00000131379	ENST00000253697;ENST00000435614;ENST00000412910	T;T;T	0.08370	3.38;3.1;3.1	4.25	-8.49	0.00931	.	2.180750	0.01920	N	0.040451	T	0.02688	0.0081	N	0.03608	-0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.37033	-0.9723	10	0.14252	T	0.57	-9.0E-4	3.2852	0.06929	0.5612:0.118:0.0931:0.2277	.	326	Q8ND61	CC020_HUMAN	H	326;204;204	ENSP00000253697:R326H;ENSP00000402933:R204H;ENSP00000396081:R204H	ENSP00000253697:R326H	R	+	2	0	C3orf20	14720946	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-3.564000	0.00429	-2.339000	0.00626	-2.887000	0.00096	CGC		0.517	C3orf20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340586.1	NM_032137		4	122	0	0	0	1	0	4	122				
RGAG1	57529	broad.mit.edu	37	X	109695456	109695456	+	Silent	SNP	C	C	T			TCGA-RW-A68F-01A-11D-A35D-08	TCGA-RW-A68F-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0	394f8b07-8cbd-4f98-80a5-b757a66d82fe	g.chrX:109695456C>T	ENST00000465301.2	+	3	1857	c.1611C>T	c.(1609-1611)tcC>tcT	p.S537S	RGAG1_ENST00000540313.1_Silent_p.S537S	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN	retrotransposon gag domain containing 1	537										NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						GATCAATGTCCATGCTGCAAA	0.502																																						ENST00000465301.2																			0				NS(1)|autonomic_ganglia(1)|breast(2)|cervix(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(15)|liver(1)|lung(29)|ovary(1)|prostate(5)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	73						c.(1609-1611)tcC>tcT		retrotransposon gag domain containing 1							178.0	162.0	167.0					X																	109695456		2203	4300	6503	SO:0001819	synonymous_variant	57529							g.chrX:109695456C>T	AY121804	CCDS14552.1	Xq23	2008-02-05			ENSG00000243978	ENSG00000243978			29245	protein-coding gene	gene with protein product						10718198, 15716091, 16093683	Standard	NM_020769		Approved	KIAA1318, Mart9, Mar9	uc004eor.2	Q8NET4	OTTHUMG00000022196	ENST00000465301.2:c.1611C>T	X.37:g.109695456C>T						RGAG1_ENST00000540313.1_Silent_p.S537S	p.S537S	NM_020769.2	NP_065820.1	Q8NET4	RGAG1_HUMAN			3	1857	+			537					Q9P2M8	Silent	SNP	ENST00000465301.2	37	c.1611C>T	CCDS14552.1																																																																																				0.502	RGAG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057906.2	NM_020769		84	126	0	0	0	1	0	84	126				
NUP205	23165	broad.mit.edu	37	7	135323404	135323404	+	Missense_Mutation	SNP	A	A	G			TCGA-RW-A68F-01A-11D-A35D-08	TCGA-RW-A68F-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0	394f8b07-8cbd-4f98-80a5-b757a66d82fe	g.chr7:135323404A>G	ENST00000285968.6	+	38	5391	c.5365A>G	c.(5365-5367)Aca>Gca	p.T1789A		NM_015135.2	NP_055950	Q92621	NU205_HUMAN	nucleoporin 205kDa	1789					carbohydrate metabolic process (GO:0005975)|cytokine-mediated signaling pathway (GO:0019221)|glucose transport (GO:0015758)|hexose transport (GO:0008645)|mitotic cell cycle (GO:0000278)|mitotic nuclear envelope disassembly (GO:0007077)|mRNA transport (GO:0051028)|nuclear pore complex assembly (GO:0051292)|nucleocytoplasmic transport (GO:0006913)|protein import into nucleus, docking (GO:0000059)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear membrane (GO:0031965)|nuclear periphery (GO:0034399)|nuclear pore (GO:0005643)	structural constituent of nuclear pore (GO:0017056)			breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						CCTTTCAGAAACAGTTAATAG	0.438																																						ENST00000285968.6																			0				breast(4)|central_nervous_system(2)|endometrium(9)|kidney(7)|large_intestine(17)|liver(4)|lung(36)|ovary(5)|prostate(1)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	93						c.(5365-5367)Aca>Gca		nucleoporin 205kDa							194.0	173.0	180.0					7																	135323404		2203	4300	6503	SO:0001583	missense	23165				carbohydrate metabolic process|glucose transport|mRNA transport|protein import into nucleus, docking|regulation of glucose transport|transmembrane transport|viral reproduction	nuclear pore	protein binding	g.chr7:135323404A>G	D86978	CCDS34759.1	7q31.32	2007-03-26	2004-01-06	2004-01-07	ENSG00000155561	ENSG00000155561			18658	protein-coding gene	gene with protein product		614352	"""chromosome 7 open reading frame 14"""	C7orf14		9039502, 9348540	Standard	NM_015135		Approved	KIAA0225	uc003vsw.3	Q92621	OTTHUMG00000155497	ENST00000285968.6:c.5365A>G	7.37:g.135323404A>G	ENSP00000285968:p.Thr1789Ala						p.T1789A	NM_015135.2	NP_055950.1	Q92621	NU205_HUMAN			38	5391	+			1789					A6H8X3|Q86YC1	Missense_Mutation	SNP	ENST00000285968.6	37	c.5365A>G	CCDS34759.1	.	.	.	.	.	.	.	.	.	.	a	11.32	1.602956	0.28534	.	.	ENSG00000155561	ENST00000285968	T	0.28069	1.63	5.26	5.26	0.73747	.	0.215876	0.48767	D	0.000169	T	0.16685	0.0401	N	0.14661	0.345	0.80722	D	1	B	0.02656	0.0	B	0.01281	0.0	T	0.11036	-1.0604	10	0.14656	T	0.56	-8.3772	10.2345	0.43275	0.8141:0.0:0.0:0.1859	.	1789	Q92621	NU205_HUMAN	A	1789	ENSP00000285968:T1789A	ENSP00000285968:T1789A	T	+	1	0	NUP205	134973944	1.000000	0.71417	0.881000	0.34555	0.796000	0.44982	2.463000	0.45058	1.989000	0.58080	0.377000	0.23210	ACA		0.438	NUP205-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340358.1			5	161	0	0	0	1	0	5	161				
IQSEC2	23096	broad.mit.edu	37	X	53268384	53268384	+	Missense_Mutation	SNP	C	C	A			TCGA-RW-A68F-01A-11D-A35D-08	TCGA-RW-A68F-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0	394f8b07-8cbd-4f98-80a5-b757a66d82fe	g.chrX:53268384C>A	ENST00000375368.5	-	10	3278	c.3078G>T	c.(3076-3078)caG>caT	p.Q1026H	IQSEC2_ENST00000375365.2_Missense_Mutation_p.Q831H|IQSEC2_ENST00000396435.3_Missense_Mutation_p.Q1036H			Q5JU85	IQEC2_HUMAN	IQ motif and Sec7 domain 2	1026	PH.				actin cytoskeleton organization (GO:0030036)|positive regulation of GTPase activity (GO:0043547)|regulation of ARF protein signal transduction (GO:0032012)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ARF guanyl-nucleotide exchange factor activity (GO:0005086)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						CACATGAATTCTGGAAGAGCT	0.502											OREG0019800	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000396435.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(4)|lung(10)|ovary(4)|skin(1)	29						c.(3106-3108)caG>caT		IQ motif and Sec7 domain 2							94.0	88.0	90.0					X																	53268384		2203	4300	6503	SO:0001583	missense	23096				regulation of ARF protein signal transduction	cytoplasm	ARF guanyl-nucleotide exchange factor activity	g.chrX:53268384C>A	AB011094	CCDS35298.1, CCDS48130.1	Xp11.23	2014-01-31			ENSG00000124313	ENSG00000124313			29059	protein-coding gene	gene with protein product		300522	"""mental retardation, X-linked 1 (non-dysmorphic)"""	MRX1		9628581, 20473311	Standard	NM_001243197		Approved	KIAA0522	uc004dsd.3	Q5JU85	OTTHUMG00000021608	ENST00000375368.5:c.3078G>T	X.37:g.53268384C>A	ENSP00000364517:p.Gln1026His		OREG0019800	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	991	IQSEC2_ENST00000375365.2_Missense_Mutation_p.Q831H|IQSEC2_ENST00000375368.5_Missense_Mutation_p.Q1026H	p.Q1036H	NM_001111125.2	NP_001104595.1	Q5JU85	IQEC2_HUMAN			11	3308	-			1026			PH.		B3KT97|C7SDG1|O60275|Q5JUX1	Missense_Mutation	SNP	ENST00000375368.5	37	c.3108G>T		.	.	.	.	.	.	.	.	.	.	C	23.1	4.376709	0.82682	.	.	ENSG00000124313	ENST00000396435;ENST00000375368;ENST00000375365	T;T;T	0.44083	0.93;0.93;0.93	5.61	5.61	0.85477	.	0.253799	0.40728	N	0.001023	T	0.60547	0.2277	L	0.50333	1.59	0.80722	D	1	D;D	0.71674	0.996;0.998	D;D	0.80764	0.969;0.994	T	0.62798	-0.6778	10	0.87932	D	0	.	17.3443	0.87306	0.0:1.0:0.0:0.0	.	1036;831	Q5JU85-2;Q5JU85-3	.;.	H	1036;1026;831	ENSP00000379712:Q1036H;ENSP00000364517:Q1026H;ENSP00000364514:Q831H	ENSP00000364514:Q831H	Q	-	3	2	IQSEC2	53285109	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	4.947000	0.63583	2.363000	0.80096	0.511000	0.50034	CAG		0.502	IQSEC2-201	KNOWN	basic	protein_coding	protein_coding		XM_291345		4	53	1	0	5.9392e-07	1	6.28856e-07	4	53				
SLC38A4	55089	broad.mit.edu	37	12	47172479	47172479	+	Silent	SNP	C	C	T			TCGA-RW-A68F-01A-11D-A35D-08	TCGA-RW-A68F-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0	394f8b07-8cbd-4f98-80a5-b757a66d82fe	g.chr12:47172479C>T	ENST00000447411.1	-	10	1004	c.798G>A	c.(796-798)acG>acA	p.T266T	SLC38A4_ENST00000266579.4_Silent_p.T266T	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN	solute carrier family 38, member 4	266					amino acid transport (GO:0006865)|ion transport (GO:0006811)|sodium ion transport (GO:0006814)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	amino acid transmembrane transporter activity (GO:0015171)|symporter activity (GO:0015293)			NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21	Lung SC(27;0.192)|Renal(347;0.236)					GCATTGGAAGCGTGTTGTTGA	0.428																																						ENST00000447411.1																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(4)|lung(6)|ovary(3)|skin(1)	21						c.(796-798)acG>acA		solute carrier family 38, member 4							101.0	93.0	96.0					12																	47172479		2203	4299	6502	SO:0001819	synonymous_variant	55089				cellular nitrogen compound metabolic process|sodium ion transport	integral to membrane|plasma membrane	amino acid transmembrane transporter activity|symporter activity	g.chr12:47172479C>T	AF193836	CCDS8750.1	12q13	2013-05-22				ENSG00000139209		"""Solute carriers"""	14679	protein-coding gene	gene with protein product		608065				11414754	Standard	NM_018018		Approved	PAAT, NAT3, ATA3	uc001rpj.2	Q969I6		ENST00000447411.1:c.798G>A	12.37:g.47172479C>T						SLC38A4_ENST00000266579.4_Silent_p.T266T	p.T266T	NM_001143824.1	NP_001137296.1	Q969I6	S38A4_HUMAN			10	1004	-	Lung SC(27;0.192)|Renal(347;0.236)		266					A8K553	Silent	SNP	ENST00000447411.1	37	c.798G>A	CCDS8750.1																																																																																				0.428	SLC38A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000404574.1			35	46	0	0	0	1	0	35	46				
COL4A5	1287	broad.mit.edu	37	X	107930801	107930801	+	Missense_Mutation	SNP	C	C	A			TCGA-RW-A68F-01A-11D-A35D-08	TCGA-RW-A68F-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0	394f8b07-8cbd-4f98-80a5-b757a66d82fe	g.chrX:107930801C>A	ENST00000361603.2	+	47	4631	c.4387C>A	c.(4387-4389)Ctt>Att	p.L1463I	COL4A5_ENST00000328300.6_Missense_Mutation_p.L1469I	NM_000495.4	NP_000486.1	P29400	CO4A5_HUMAN	collagen, type IV, alpha 5	1463	Collagen IV NC1. {ECO:0000255|PROSITE- ProRule:PRU00736}.				axon guidance (GO:0007411)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|neuromuscular junction development (GO:0007528)	basal lamina (GO:0005605)|collagen type IV trimer (GO:0005587)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|neuromuscular junction (GO:0031594)	extracellular matrix structural constituent (GO:0005201)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						ACATGGATTTCTTATTACACG	0.517									Alport syndrome with Diffuse Leiomyomatosis																													ENST00000328300.6																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(32)|ovary(4)|prostate(2)|skin(8)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(1)	99						c.(4405-4407)Ctt>Att		collagen, type IV, alpha 5							139.0	125.0	130.0					X																	107930801		2203	4300	6503	SO:0001583	missense	1287	Alport syndrome with Diffuse Leiomyomatosis	Familial Cancer Database		axon guidance	collagen type IV	extracellular matrix structural constituent|protein binding	g.chrX:107930801C>A	M90464	CCDS14543.1, CCDS35366.1	Xq22	2014-09-17	2008-07-28		ENSG00000188153	ENSG00000188153		"""Collagens"""	2207	protein-coding gene	gene with protein product		303630	"""Alport syndrome"""	ASLN, ATS			Standard	NM_000495		Approved		uc004enz.2	P29400	OTTHUMG00000022182	ENST00000361603.2:c.4387C>A	X.37:g.107930801C>A	ENSP00000354505:p.Leu1463Ile					COL4A5_ENST00000361603.2_Missense_Mutation_p.L1463I	p.L1469I	NM_033380.2	NP_203699.1	P29400	CO4A5_HUMAN			49	4649	+			1463			Collagen IV NC1.		Q16006|Q16126|Q6LD84|Q7Z700|Q9NUB7	Missense_Mutation	SNP	ENST00000361603.2	37	c.4405C>A	CCDS14543.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.5|27.5	4.835026|4.835026	0.91117|0.91117	.|.	.|.	ENSG00000188153|ENSG00000188153	ENST00000515658|ENST00000328300;ENST00000361603;ENST00000508186	D|D;D	0.86562|0.94330	-2.14|-3.4;-3.4	5.58|5.58	4.7|4.7	0.59300|0.59300	.|C-type lectin fold (1);	.|0.000000	.|0.64402	.|D	.|0.000001	D|D	0.94118|0.94118	0.8114|0.8114	L|L	0.35487|0.35487	1.065|1.065	0.58432|0.58432	D|D	0.999999|0.999999	.|B;B	.|0.24317	.|0.101;0.101	.|P;P	.|0.50192	.|0.634;0.634	D|D	0.91469|0.91469	0.5195|0.5195	7|10	0.72032|0.40728	D|T	0.01|0.16	.|.	15.5348|15.5348	0.75993|0.75993	0.0:0.8653:0.1347:0.0|0.0:0.8653:0.1347:0.0	.|.	.|1466;1463	.|E7EVY4;P29400	.|.;CO4A5_HUMAN	L|I	67|1469;1463;1469	ENSP00000423520:F67L|ENSP00000331902:L1469I;ENSP00000354505:L1463I	ENSP00000423520:F67L|ENSP00000331902:L1469I	F|L	+|+	3|1	2|0	COL4A5|COL4A5	107817457|107817457	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.920000|0.920000	0.55202|0.55202	4.910000|4.910000	0.63321|0.63321	1.095000|1.095000	0.41419|0.41419	0.600000|0.600000	0.82982|0.82982	TTC|CTT		0.517	COL4A5-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057880.2			4	140	1	0	0.00909568	1	0.00935556	4	140				
STXBP3	6814	broad.mit.edu	37	1	109338934	109338934	+	Frame_Shift_Del	DEL	A	A	-			TCGA-RW-A68F-01A-11D-A35D-08	TCGA-RW-A68F-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0	394f8b07-8cbd-4f98-80a5-b757a66d82fe	g.chr1:109338934delA	ENST00000370008.3	+	14	1239	c.1189delA	c.(1189-1191)aaafs	p.K397fs		NM_007269.2	NP_009200.2	O00186	STXB3_HUMAN	syntaxin binding protein 3	397					blood coagulation (GO:0007596)|membrane organization (GO:0061024)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|neutrophil degranulation (GO:0043312)|platelet activation (GO:0030168)|platelet aggregation (GO:0070527)|protein heterooligomerization (GO:0051291)|protein transport (GO:0015031)|vesicle docking involved in exocytosis (GO:0006904)	apical plasma membrane (GO:0016324)|basolateral plasma membrane (GO:0016323)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)|platelet alpha granule (GO:0031091)|specific granule (GO:0042581)|tertiary granule (GO:0070820)	syntaxin binding (GO:0019905)			breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1)	13		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)		TCTACTCAACAAAAATCATGA	0.308																																						ENST00000370008.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|large_intestine(3)|lung(2)|ovary(3)|urinary_tract(1)	13						c.(1189-1191)aafs		syntaxin binding protein 3							56.0	56.0	56.0					1																	109338934		2203	4300	6503	SO:0001589	frameshift_variant	6814				negative regulation of calcium ion-dependent exocytosis|neutrophil degranulation|platelet aggregation|protein transport|vesicle docking involved in exocytosis	cytosol|nucleus|platelet alpha granule|specific granule|tertiary granule	syntaxin-2 binding	g.chr1:109338934delA	D63506	CCDS790.1	1p13.3	2008-02-05			ENSG00000116266	ENSG00000116266			11446	protein-coding gene	gene with protein product		608339				10194441	Standard	NM_007269		Approved	UNC-18C	uc001dvy.3	O00186	OTTHUMG00000011122	ENST00000370008.3:c.1189delA	1.37:g.109338934delA	ENSP00000359025:p.Lys397fs						p.K397fs	NM_007269.2	NP_009200.2	O00186	STXB3_HUMAN		Colorectal(144;0.0386)|Lung(183;0.104)|COAD - Colon adenocarcinoma(174;0.137)|Epithelial(280;0.231)	14	1239	+		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)	397					A8K269|A8K5K7|Q53FW1|Q86YJ3|Q9UPD7	Frame_Shift_Del	DEL	ENST00000370008.3	37	c.1189delA	CCDS790.1																																																																																				0.308	STXBP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030591.1	NM_007269		19	32						19	32	---	---	---	---
CDS1	1040	broad.mit.edu	37	4	85556474	85556475	+	Frame_Shift_Ins	INS	-	-	T			TCGA-RW-A68F-01A-11D-A35D-08	TCGA-RW-A68F-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0	394f8b07-8cbd-4f98-80a5-b757a66d82fe	g.chr4:85556474_85556475insT	ENST00000295887.5	+	8	1203_1204	c.780_781insT	c.(781-783)tttfs	p.F261fs		NM_001263.3	NP_001254.2	O96017	CHK2_HUMAN	CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1	0	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				cellular protein catabolic process (GO:0044257)|cellular response to DNA damage stimulus (GO:0006974)|DNA damage checkpoint (GO:0000077)|DNA damage induced protein phosphorylation (GO:0006975)|double-strand break repair (GO:0006302)|G2/M transition of mitotic cell cycle (GO:0000086)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|protein stabilization (GO:0050821)|regulation of protein catabolic process (GO:0042176)|regulation of transcription, DNA-templated (GO:0006355)|replicative senescence (GO:0090399)|response to gamma radiation (GO:0010332)|signal transduction in response to DNA damage (GO:0042770)|signal transduction involved in intra-S DNA damage checkpoint (GO:0072428)|spindle assembly involved in mitosis (GO:0090307)|transcription, DNA-templated (GO:0006351)	nucleoplasm (GO:0005654)|PML body (GO:0016605)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|protein serine/threonine kinase activity (GO:0004674)|ubiquitin protein ligase binding (GO:0031625)	p.G260G(1)		breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.00101)		ACCTTTTTGGATTTTTTTTTGG	0.307																																						ENST00000295887.5																			1	Substitution - coding silent(1)	p.G260G(1)	endometrium(1)	breast(1)|endometrium(3)|kidney(1)|large_intestine(7)|liver(2)|lung(5)|ovary(1)	20						c.(778-783)ggttttfs		CDP-diacylglycerol synthase (phosphatidate cytidylyltransferase) 1																																				SO:0001589	frameshift_variant	1040				signal transduction|visual perception	endoplasmic reticulum membrane|integral to membrane	diacylglycerol cholinephosphotransferase activity|phosphatidate cytidylyltransferase activity	g.chr4:85556474_85556475insT	U65887	CCDS3608.1	4q21	2008-02-05			ENSG00000163624	ENSG00000163624	2.7.7.41		1800	protein-coding gene	gene with protein product		603548				9806839, 9115637	Standard	NM_001263		Approved		uc011ccv.2	Q92903	OTTHUMG00000130428	ENST00000295887.5:c.789dupT	4.37:g.85556483_85556483dupT	ENSP00000295887:p.Phe261fs						p.GF260fs	NM_001263.3	NP_001254.2	Q92903	CDS1_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.00101)	8	1203_1204	+		Hepatocellular(203;0.114)	260					A8K3Y9|B7ZBF3|B7ZBF4|B7ZBF5|Q6QA03|Q6QA04|Q6QA05|Q6QA06|Q6QA07|Q6QA08|Q6QA10|Q6QA11|Q6QA12|Q6QA13|Q9HBS5|Q9HCQ8|Q9UGF0|Q9UGF1	Frame_Shift_Ins	INS	ENST00000295887.5	37	c.780_781insT	CCDS3608.1																																																																																				0.307	CDS1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252817.2			9	107						9	107	---	---	---	---
DTX2	113878	broad.mit.edu	37	7	76112249	76112249	+	Frame_Shift_Del	DEL	A	A	-	rs147779783	byFrequency	TCGA-RW-A68F-01A-11D-A35D-08	TCGA-RW-A68F-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0	394f8b07-8cbd-4f98-80a5-b757a66d82fe	g.chr7:76112249delA	ENST00000324432.5	+	5	1203	c.693delA	c.(691-693)ccafs	p.P231fs	DTX2_ENST00000413936.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000446820.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000307569.8_Frame_Shift_Del_p.P231fs|DTX2_ENST00000430490.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000446600.1_Frame_Shift_Del_p.P140fs	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN	deltex 2, E3 ubiquitin ligase	231					Notch signaling pathway (GO:0007219)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						AGCACCCCCCACACAGGACCG	0.657																																						ENST00000324432.5																			0				NS(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(14)|ovary(1)|skin(1)|stomach(2)	27						c.(691-693)ccfs		deltex homolog 2 (Drosophila)							125.0	130.0	128.0					7																	76112249		2203	4300	6503	SO:0001589	frameshift_variant	113878				Notch signaling pathway	cytoplasm|nucleus	protein binding|zinc ion binding	g.chr7:76112249delA		CCDS5587.1, CCDS43605.1	7q11.23	2014-01-28	2014-01-28		ENSG00000091073	ENSG00000091073		"""RING-type (C3HC4) zinc fingers"""	15973	protein-coding gene	gene with protein product		613141	"""deltex (Drosophila) homolog 2"", ""deltex homolog 2 (Drosophila)"""			12670957	Standard	NM_020892		Approved	RNF58, KIAA1528	uc003ufh.4	Q86UW9	OTTHUMG00000162594	ENST00000324432.5:c.693delA	7.37:g.76112249delA	ENSP00000322885:p.Pro231fs					DTX2_ENST00000446600.1_Frame_Shift_Del_p.P140fs|DTX2_ENST00000413936.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000446820.2_Frame_Shift_Del_p.P231fs|DTX2_ENST00000307569.8_Frame_Shift_Del_p.P231fs|DTX2_ENST00000430490.2_Frame_Shift_Del_p.P231fs	p.P231fs	NM_020892.2	NP_065943.2	Q86UW9	DTX2_HUMAN			5	1203	+			231					Q6XM87|Q6XM88|Q96H69|Q9H890|Q9P200	Frame_Shift_Del	DEL	ENST00000324432.5	37	c.693delA	CCDS5587.1																																																																																				0.657	DTX2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253104.2			8	413						8	413	---	---	---	---
SFRP1	6422	broad.mit.edu	37	8	41166638	41166640	+	In_Frame_Del	DEL	GCT	GCT	-	rs3055861|rs3832595	byFrequency	TCGA-RW-A68F-01A-11D-A35D-08	TCGA-RW-A68F-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0	394f8b07-8cbd-4f98-80a5-b757a66d82fe	g.chr8:41166638_41166640delGCT	ENST00000220772.3	-	1	376_378	c.39_41delAGC	c.(37-42)gcagcc>gcc	p.13_14AA>A	SFRP1_ENST00000379845.3_5'Flank	NM_003012.4	NP_003003.3	Q8N474	SFRP1_HUMAN	secreted frizzled-related protein 1	13				Missing (in Ref. 1 and 3). {ECO:0000305}.	bone trabecula formation (GO:0060346)|brain development (GO:0007420)|canonical Wnt signaling pathway (GO:0060070)|cellular response to BMP stimulus (GO:0071773)|cellular response to estradiol stimulus (GO:0071392)|cellular response to estrogen stimulus (GO:0071391)|cellular response to fibroblast growth factor stimulus (GO:0044344)|cellular response to growth factor stimulus (GO:0071363)|cellular response to heparin (GO:0071504)|cellular response to hypoxia (GO:0071456)|cellular response to interleukin-1 (GO:0071347)|cellular response to prostaglandin E stimulus (GO:0071380)|cellular response to starvation (GO:0009267)|cellular response to transforming growth factor beta stimulus (GO:0071560)|cellular response to tumor necrosis factor (GO:0071356)|cellular response to vitamin D (GO:0071305)|cellular response to X-ray (GO:0071481)|convergent extension involved in somitogenesis (GO:0090246)|digestive tract morphogenesis (GO:0048546)|dorsal/ventral axis specification (GO:0009950)|female gonad development (GO:0008585)|gonad development (GO:0008406)|hematopoietic progenitor cell differentiation (GO:0002244)|hematopoietic stem cell differentiation (GO:0060218)|male gonad development (GO:0008584)|menstrual cycle phase (GO:0022601)|negative regulation of androgen receptor signaling pathway (GO:0060766)|negative regulation of apoptotic process (GO:0043066)|negative regulation of B cell differentiation (GO:0045578)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of bone remodeling (GO:0046851)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of canonical Wnt signaling pathway involved in controlling type B pancreatic cell proliferation (GO:2000080)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation (GO:0008285)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of epithelial to mesenchymal transition (GO:0010719)|negative regulation of fibroblast apoptotic process (GO:2000270)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of gene expression (GO:0010629)|negative regulation of insulin secretion (GO:0046676)|negative regulation of JUN kinase activity (GO:0043508)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of osteoblast proliferation (GO:0033689)|negative regulation of osteoclast differentiation (GO:0045671)|negative regulation of peptidyl-tyrosine phosphorylation (GO:0050732)|negative regulation of planar cell polarity pathway involved in axis elongation (GO:2000041)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of Wnt signaling pathway (GO:0030178)|negative regulation of Wnt signaling pathway involved in dorsal/ventral axis specification (GO:2000054)|neural crest cell fate commitment (GO:0014034)|neural tube closure (GO:0001843)|osteoblast differentiation (GO:0001649)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|positive regulation of apoptotic process (GO:0043065)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cell growth (GO:0030307)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-matrix adhesion (GO:0001954)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of extrinsic apoptotic signaling pathway via death domain receptors (GO:1902043)|positive regulation of fat cell differentiation (GO:0045600)|positive regulation of fibroblast apoptotic process (GO:2000271)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of non-canonical Wnt signaling pathway (GO:2000052)|positive regulation of Rac GTPase activity (GO:0032855)|positive regulation of smoothened signaling pathway (GO:0045880)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of Wnt signaling pathway (GO:0030177)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|proteolysis (GO:0006508)|regulation of angiogenesis (GO:0045765)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell cycle process (GO:0010564)|response to drug (GO:0042493)|response to organic cyclic compound (GO:0014070)|somatic stem cell maintenance (GO:0035019)|stromal-epithelial cell signaling involved in prostate gland development (GO:0044345)|ureteric bud development (GO:0001657)|vasculature development (GO:0001944)|Wnt signaling pathway involved in somitogenesis (GO:0090244)	cell surface (GO:0009986)|cytosol (GO:0005829)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	cysteine-type endopeptidase activity (GO:0004197)|drug binding (GO:0008144)|frizzled binding (GO:0005109)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|PDZ domain binding (GO:0030165)|Wnt-activated receptor activity (GO:0042813)|Wnt-protein binding (GO:0017147)			breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1)	7	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)			CACGCCCAGGGCTGCCCCGCGGC	0.764														1558	0.311102	0.0401	0.389	5008	,	,		9448	0.4038		0.3956	False		,,,				2504	0.4397					ENST00000220772.3																			0				breast(1)|central_nervous_system(1)|large_intestine(2)|liver(1)|lung(1)|skin(1)	7						c.(37-42)gcc>gc		secreted frizzled-related protein 1				337,0,3741		45,0,247,0,0,1747						1.6	0.3		dbSNP_107	8	2693,2,5163		669,0,1355,0,2,1903	no	codingComplex	SFRP1	NM_003012.4		714,0,1602,0,2,3650	A1A1,A1A2,A1R,A2A2,A2R,RR		34.2963,8.2639,25.4021				3030,2,8904				SO:0001651	inframe_deletion	6422				brain development|canonical Wnt receptor signaling pathway|cellular response to BMP stimulus|cellular response to estradiol stimulus|cellular response to fibroblast growth factor stimulus|cellular response to heparin|cellular response to hypoxia|cellular response to interleukin-1|cellular response to prostaglandin E stimulus|cellular response to starvation|cellular response to transforming growth factor beta stimulus|cellular response to tumor necrosis factor|cellular response to vitamin D|DNA fragmentation involved in apoptotic nuclear change|dorsal/ventral axis specification|hemopoietic progenitor cell differentiation|hemopoietic stem cell differentiation|menstrual cycle phase|negative regulation of androgen receptor signaling pathway|negative regulation of B cell differentiation|negative regulation of bone remodeling|negative regulation of canonical Wnt receptor signaling pathway involved in controlling type B pancreatic cell proliferation|negative regulation of cell growth|negative regulation of cell migration|negative regulation of cysteine-type endopeptidase activity|negative regulation of epithelial cell proliferation|negative regulation of epithelial to mesenchymal transition|negative regulation of fibroblast apoptosis|negative regulation of fibroblast proliferation|negative regulation of insulin secretion|negative regulation of ossification|negative regulation of osteoblast proliferation|negative regulation of peptidyl-tyrosine phosphorylation|negative regulation of transcription, DNA-dependent|negative regulation of Wnt receptor signaling pathway involved in dorsal/ventral axis specification|osteoblast differentiation|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cell growth|positive regulation of epithelial cell proliferation|positive regulation of fat cell differentiation|positive regulation of fibroblast apoptosis|positive regulation of focal adhesion assembly|positive regulation of non-canonical Wnt receptor signaling pathway|positive regulation of Rac GTPase activity|positive regulation of smoothened signaling pathway|positive regulation of stress fiber assembly|positive regulation of transcription, DNA-dependent|regulation of angiogenesis|regulation of cell cycle process|response to drug|response to organic cyclic compound|vasculature development	cell surface|cytosol|extracellular space|plasma membrane|proteinaceous extracellular matrix	cysteine-type endopeptidase activity|drug binding|frizzled binding|heparin binding|identical protein binding|PDZ domain binding|Wnt receptor activity|Wnt-protein binding	g.chr8:41166638_41166640delGCT	AF017987	CCDS34886.1	8p11.21	2006-12-15			ENSG00000104332	ENSG00000104332		"""Secreted frizzled-related proteins"""	10776	protein-coding gene	gene with protein product		604156				9391078, 9192640	Standard	NM_003012		Approved	SARP2, FRP, FRP-1	uc003xnt.3	Q8N474	OTTHUMG00000164074	ENST00000220772.3:c.39_41delAGC	8.37:g.41166638_41166640delGCT	ENSP00000220772:p.Ala14del						p.AA13del	NM_003012.4	NP_003003.3	Q8N474	SFRP1_HUMAN	BRCA - Breast invasive adenocarcinoma(1;1.11e-10)|LUSC - Lung squamous cell carcinoma(45;0.00894)|COAD - Colon adenocarcinoma(11;0.0174)		1	376_378	-	Breast(1;9.19e-13)|Ovarian(28;0.00769)|Colorectal(14;0.0305)|Lung SC(25;0.211)	all_lung(54;0.0034)|Lung NSC(58;0.0134)|Hepatocellular(245;0.023)|Esophageal squamous(32;0.0559)	13					O00546|O14779	In_Frame_Del	DEL	ENST00000220772.3	37	c.39_41delAGC	CCDS34886.1																																																																																				0.764	SFRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377132.1	NM_003012		3	4						3	4	---	---	---	---
UBE2W	55284	broad.mit.edu	37	8	74737421	74737421	+	Frame_Shift_Del	DEL	T	T	-			TCGA-RW-A68F-01A-11D-A35D-08	TCGA-RW-A68F-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0	394f8b07-8cbd-4f98-80a5-b757a66d82fe	g.chr8:74737421delT	ENST00000602593.1	-	3	223	c.171delA	c.(169-171)ctafs	p.L57fs	RP11-463D19.2_ENST00000358757.5_Frame_Shift_Del_p.L57fs|UBE2W_ENST00000453587.2_Frame_Shift_Del_p.L57fs|UBE2W_ENST00000517608.1_Frame_Shift_Del_p.L86fs|UBE2W_ENST00000419880.3_Frame_Shift_Del_p.L97fs|UBE2W_ENST00000602969.1_Frame_Shift_Del_p.L68fs			Q96B02	UBE2W_HUMAN	ubiquitin-conjugating enzyme E2W (putative)	57					cellular response to misfolded protein (GO:0071218)|DNA repair (GO:0006281)|misfolded or incompletely synthesized protein catabolic process (GO:0006515)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein K11-linked ubiquitination (GO:0070979)|protein monoubiquitination (GO:0006513)	nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|ATP binding (GO:0005524)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)			kidney(1)|lung(1)	2	Breast(64;0.0311)		Epithelial(68;0.0235)|all cancers(69;0.0687)|BRCA - Breast invasive adenocarcinoma(89;0.069)			TAAATTTAAATAGAAGTTGAA	0.313																																					Pancreas(14;490 592 20090 21022 23311)	ENST00000517608.1																			0				kidney(1)|lung(1)	2						c.(256-258)ctfs		ubiquitin-conjugating enzyme E2W (putative)							42.0	39.0	40.0					8																	74737421		1786	4067	5853	SO:0001589	frameshift_variant	55284				protein K11-linked ubiquitination|protein monoubiquitination		ATP binding|protein binding|ubiquitin-protein ligase activity	g.chr8:74737421delT	AK001873	CCDS47874.1, CCDS47875.1, CCDS47874.2, CCDS47875.2	8q21.11	2010-07-07			ENSG00000104343	ENSG00000104343		"""Ubiquitin-conjugating enzymes E2"""	25616	protein-coding gene	gene with protein product		614277				12477932	Standard	NM_001001481		Approved	FLJ11011	uc003xzu.4	Q96B02	OTTHUMG00000164517	ENST00000602593.1:c.171delA	8.37:g.74737421delT	ENSP00000473561:p.Leu57fs					UBE2W_ENST00000602969.1_Frame_Shift_Del_p.L68fs|UBE2W_ENST00000453587.2_Frame_Shift_Del_p.L57fs|UBE2W_ENST00000419880.3_Frame_Shift_Del_p.L97fs|RP11-463D19.2_ENST00000358757.5_Frame_Shift_Del_p.L57fs|UBE2W_ENST00000602593.1_Frame_Shift_Del_p.L57fs	p.L86fs			Q96B02	UBE2W_HUMAN	Epithelial(68;0.0235)|all cancers(69;0.0687)|BRCA - Breast invasive adenocarcinoma(89;0.069)		3	258	-	Breast(64;0.0311)		57					B4DIV1|Q1XBE0|Q9H823|Q9HAG6|Q9NV07	Frame_Shift_Del	DEL	ENST00000602593.1	37	c.258delA																																																																																					0.313	UBE2W-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_001001481		2	4						2	4	---	---	---	---
LRRC27	80313	broad.mit.edu	37	10	134169317	134169317	+	Frame_Shift_Del	DEL	G	G	-			TCGA-RW-A68F-01A-11D-A35D-08	TCGA-RW-A68F-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0	394f8b07-8cbd-4f98-80a5-b757a66d82fe	g.chr10:134169317delG	ENST00000368614.3	+	8	1202	c.1097delG	c.(1096-1098)tggfs	p.W366fs	LRRC27_ENST00000368610.3_Frame_Shift_Del_p.W304fs|LRRC27_ENST00000368612.1_Frame_Shift_Del_p.W304fs|LRRC27_ENST00000432555.2_Frame_Shift_Del_p.W239fs|LRRC27_ENST00000475747.1_3'UTR|LRRC27_ENST00000392638.2_3'UTR|LRRC27_ENST00000368613.4_Frame_Shift_Del_p.W366fs	NM_030626.2	NP_085129.1	Q9C0I9	LRC27_HUMAN	leucine rich repeat containing 27	366										breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)		CTGCAGGAGTGGAGAGAGCGA	0.572																																						ENST00000368610.3																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(8)|ovary(1)|pancreas(1)	18						c.(910-912)tgfs		leucine rich repeat containing 27							89.0	74.0	79.0					10																	134169317		2177	4248	6425	SO:0001589	frameshift_variant	80313							g.chr10:134169317delG	AB051461	CCDS31316.1, CCDS44496.1	10q26.3	2013-09-20			ENSG00000148814	ENSG00000148814			29346	protein-coding gene	gene with protein product						11214970	Standard	NM_030626		Approved	KIAA1674	uc010quw.1	Q9C0I9	OTTHUMG00000019284	ENST00000368614.3:c.1097delG	10.37:g.134169317delG	ENSP00000357603:p.Trp366fs					LRRC27_ENST00000368612.1_Frame_Shift_Del_p.W304fs|LRRC27_ENST00000392638.2_3'UTR|LRRC27_ENST00000432555.2_Frame_Shift_Del_p.W239fs|LRRC27_ENST00000475747.1_3'UTR|LRRC27_ENST00000368614.3_Frame_Shift_Del_p.W366fs|LRRC27_ENST00000368613.4_Frame_Shift_Del_p.W366fs	p.W304fs			Q9C0I9	LRC27_HUMAN		OV - Ovarian serous cystadenocarcinoma(35;9.12e-05)|Epithelial(32;0.000116)|all cancers(32;0.000145)|BRCA - Breast invasive adenocarcinoma(275;0.218)	7	911	+		all_cancers(35;6.28e-08)|all_epithelial(44;6.75e-06)|Lung NSC(174;0.0108)|all_lung(145;0.0173)|all_neural(114;0.0726)|Glioma(114;0.172)|Melanoma(40;0.175)|Colorectal(31;0.19)	366					A6NE72|A6NJB4|A6NKD3|D3DRH0|Q5SZH6|Q5SZH8|Q5SZH9|Q86XT5|Q8N7C8|Q8NA21	Frame_Shift_Del	DEL	ENST00000368614.3	37	c.911delG	CCDS31316.1																																																																																				0.572	LRRC27-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051058.2	XM_290462		2	4						2	4	---	---	---	---
ZNF559	84527	broad.mit.edu	37	19	9452027	9452028	+	Intron	DEL	CT	CT	-	rs55837495|rs201124569|rs398059552	byFrequency	TCGA-RW-A68F-01A-11D-A35D-08	TCGA-RW-A68F-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0	394f8b07-8cbd-4f98-80a5-b757a66d82fe	g.chr19:9452027_9452028delCT	ENST00000393883.2	+	5	891				ZNF177_ENST00000605471.1_Intron|ZNF559_ENST00000587557.1_Intron|ZNF559_ENST00000586255.1_Intron|ZNF559_ENST00000585352.1_Intron|ZNF559_ENST00000317221.7_Intron|ZNF177_ENST00000541595.2_Intron|ZNF559_ENST00000592504.1_Frame_Shift_Del_p.T137fs|ZNF177_ENST00000602856.1_Intron|ZNF559_ENST00000592896.1_Intron|ZNF177_ENST00000446085.4_Intron|ZNF177_ENST00000602738.1_Intron|ZNF559_ENST00000538743.1_Intron|ZNF559_ENST00000603380.1_Intron	NM_001202412.1	NP_001189341.1	Q9BR84	ZN559_HUMAN	zinc finger protein 559						regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						TTGACAAACACTCTAAACATCC	0.347														2623	0.523762	0.5166	0.5317	5008	,	,		18993	0.4514		0.5606	False		,,,				2504	0.5644					ENST00000592504.1																			0				endometrium(2)|large_intestine(7)|lung(15)|ovary(1)|urinary_tract(1)	26						c.(409-411)afs		zinc finger protein 559																																				SO:0001627	intron_variant	84527				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:9452027_9452028delCT	AL389937	CCDS12211.1, CCDS59349.1, CCDS62531.1, CCDS62532.1	19p13.2	2013-09-20			ENSG00000188321	ENSG00000188321		"""Zinc fingers, C2H2-type"", ""-"""	28197	protein-coding gene	gene with protein product						12477932	Standard	NM_001202406		Approved	MGC13105	uc002mle.4	Q9BR84	OTTHUMG00000179942	ENST00000393883.2:c.243+167CT>-	19.37:g.9452029_9452030delCT						ZNF177_ENST00000541595.2_Intron|ZNF559_ENST00000587557.1_Intron|ZNF177_ENST00000446085.4_Intron|ZNF559_ENST00000538743.1_Intron|ZNF559_ENST00000586255.1_Intron|ZNF559_ENST00000317221.7_Intron|ZNF177_ENST00000602738.1_Intron|ZNF559_ENST00000603380.1_Intron|ZNF177_ENST00000602856.1_Intron|ZNF177_ENST00000605471.1_Intron|ZNF559_ENST00000585352.1_Intron|ZNF559_ENST00000393883.2_Intron|ZNF559_ENST00000592896.1_Intron	p.T137fs			Q9BR84	ZN559_HUMAN			6	665_666	+			0					K7EMG6	Frame_Shift_Del	DEL	ENST00000393883.2	37	c.410_411delCT	CCDS12211.1																																																																																				0.347	ZNF559-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000449021.1	NM_032497		4	2						4	2	---	---	---	---
NUDT11	55190	broad.mit.edu	37	X	51239296	51239309	+	Start_Codon_Del	DEL	TCCTCGAGGCAGCC	TCCTCGAGGCAGCC	-	rs78182391		TCGA-RW-A68F-01A-11D-A35D-08	TCGA-RW-A68F-10A-01D-A35B-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	5b7164ea-e35a-4a1f-ba8c-6b7131dd3fe0	394f8b07-8cbd-4f98-80a5-b757a66d82fe	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	ENST00000375992.3	-	0	139_152					NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN	nudix (nucleoside diphosphate linked moiety X)-type motif 11						inositol phosphate metabolic process (GO:0043647)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|intracellular (GO:0005622)	diphosphoinositol-polyphosphate diphosphatase activity (GO:0008486)|inositol diphosphate tetrakisphosphate diphosphatase activity (GO:0052840)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 1-diphosphatase activity (GO:0052846)|inositol-1,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052847)|inositol-1-diphosphate-2,3,4,5,6-pentakisphosphate diphosphatase activity (GO:0052843)|inositol-3,5-bisdiphosphate-2,3,4,6-tetrakisphosphate 5-diphosphatase activity (GO:0052848)|inositol-3-diphosphate-1,2,4,5,6-pentakisphosphate diphosphatase activity (GO:0052844)|inositol-5-diphosphate-1,2,3,4,6-pentakisphosphate diphosphatase activity (GO:0052845)|metal ion binding (GO:0046872)	p.?(5)		breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9	Ovarian(276;0.236)					TTGCACTTCATCCTCGAGGCAGCCTCCTCGAGGC	0.692										HNSCC(48;0.14)				2406	0.637351	0.497	0.4928	3775	,	,		5662	0.4464		0.4553	False		,,,				2504	0.5102				GBM(38;198 791 1498 11752 13599)	ENST00000375992.3																			5	Unknown(5)	p.?(5)	upper_aerodigestive_tract(2)|prostate(1)|breast(1)|central_nervous_system(1)	breast(1)|central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|prostate(1)|upper_aerodigestive_tract(2)	9								nudix (nucleoside diphosphate linked moiety X)-type motif 11				1710,202		758,11,183,87,17						3.0	1.0		dbSNP_131	12	3133,173		1220,1,692,66,40	no	frameshift	NUDT11	NM_018159.3		1978,12,875,153,57	A1A1,A1R,A1,RR,R		5.2329,10.5649,7.1867				4843,375				SO:0001582	initiator_codon_variant	55190					cytoplasm	diphosphoinositol-polyphosphate diphosphatase activity|metal ion binding	g.chrX:51239296_51239309delTCCTCGAGGCAGCC	AK001490	CCDS43952.1	Xp11.22-p11.1	2014-05-20			ENSG00000196368	ENSG00000196368		"""Nudix motif containing"""	18011	protein-coding gene	gene with protein product						12105228	Standard	NM_018159		Approved	DIPP3b, FLJ10628, hDIPP3beta	uc010njt.3	Q96G61	OTTHUMG00000021531		X.37:g.51239296_51239309delTCCTCGAGGCAGCC		HNSCC(48;0.14)						NM_018159.3	NP_060629.2	Q96G61	NUD11_HUMAN			0	139_152	-	Ovarian(276;0.236)							Q9NVN0	Translation_Start_Site	DEL	ENST00000375992.3	37		CCDS43952.1																																																																																				0.692	NUDT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056579.1			7	8						7	8	---	---	---	---
