#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
DNAJC18	202052	broad.mit.edu	37	5	138760756	138760756	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr5:138760756G>T	ENST00000302060.5	-	5	687	c.607C>A	c.(607-609)Cgt>Agt	p.R203S		NM_152686.3	NP_689899.1	Q9H819	DJC18_HUMAN	DnaJ (Hsp40) homolog, subfamily C, member 18	203						integral component of membrane (GO:0016021)				endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)			TGCCGTCGACGGTAATAGTAA	0.463																																						ENST00000302060.5																			0				endometrium(2)|kidney(2)|large_intestine(4)|lung(3)|ovary(1)|skin(1)	13						c.(607-609)Cgt>Agt		DnaJ (Hsp40) homolog, subfamily C, member 18							245.0	228.0	233.0					5																	138760756		2203	4300	6503	SO:0001583	missense	202052				protein folding	integral to membrane	heat shock protein binding|unfolded protein binding	g.chr5:138760756G>T	AK024054	CCDS4214.1	5q31.2	2011-09-02		2005-08-09	ENSG00000170464	ENSG00000170464		"""Heat shock proteins / DNAJ (HSP40)"""	28429	protein-coding gene	gene with protein product							Standard	NM_152686		Approved	MGC29463	uc003len.3	Q9H819	OTTHUMG00000129225	ENST00000302060.5:c.607C>A	5.37:g.138760756G>T	ENSP00000302843:p.Arg203Ser						p.R203S	NM_152686.3	NP_689899.1	Q9H819	DJC18_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00325)		5	687	-			203						Missense_Mutation	SNP	ENST00000302060.5	37	c.607C>A	CCDS4214.1	.	.	.	.	.	.	.	.	.	.	G	13.54	2.268346	0.40095	.	.	ENSG00000170464	ENST00000302060;ENST00000508445	T;T	0.59638	0.25;0.85	5.72	5.72	0.89469	.	0.442010	0.27455	N	0.019295	T	0.40522	0.1120	N	0.11341	0.13	0.43683	D	0.996121	B	0.26602	0.154	B	0.20767	0.031	T	0.22452	-1.0216	10	0.27082	T	0.32	-30.3739	18.4323	0.90630	0.0:0.0:1.0:0.0	.	203	Q9H819	DJC18_HUMAN	S	203;36	ENSP00000302843:R203S;ENSP00000426338:R36S	ENSP00000302843:R203S	R	-	1	0	DNAJC18	138788655	1.000000	0.71417	0.993000	0.49108	0.029000	0.11900	6.712000	0.74681	2.699000	0.92147	0.563000	0.77884	CGT		0.463	DNAJC18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374191.1	NM_152686		60	120	1	0	3.30712e-30	1	4.11047e-30	60	120				
FMO5	2330	broad.mit.edu	37	1	146696488	146696488	+	Splice_Site	SNP	T	T	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:146696488T>C	ENST00000254090.4	-	2	522	c.134A>G	c.(133-135)cAg>cGg	p.Q45R	FMO5_ENST00000369272.3_Splice_Site_p.Q45R|RP11-337C18.10_ENST00000606856.1_RNA|FMO5_ENST00000465173.1_5'UTR|FMO5_ENST00000441068.2_Splice_Site_p.Q45R	NM_001461.2	NP_001452.2	P49326	FMO5_HUMAN	flavin containing monooxygenase 5	45						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)			breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25	all_hematologic(923;0.0487)					TGTATGTACCTGGAACCTCCA	0.522																																						ENST00000254090.4																			0				breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(9)|ovary(3)|upper_aerodigestive_tract(1)	25						c.e2+1		flavin containing monooxygenase 5							134.0	125.0	128.0					1																	146696488		2203	4300	6503	SO:0001630	splice_region_variant	2330					integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:146696488T>C	Z47553	CCDS926.1, CCDS44209.1, CCDS44210.1	1q21.1	2011-08-04			ENSG00000131781	ENSG00000131781			3773	protein-coding gene	gene with protein product		603957				8786146, 9119381	Standard	NM_001461		Approved		uc001epi.2	P49326	OTTHUMG00000014607	ENST00000254090.4:c.135+1A>G	1.37:g.146696488T>C						FMO5_ENST00000465173.1_5'UTR|FMO5_ENST00000441068.2_Splice_Site_p.Q45_splice|FMO5_ENST00000369272.3_Splice_Site_p.Q45_splice	p.Q45_splice	NM_001461.2	NP_001452.2	P49326	FMO5_HUMAN			2	522	-	all_hematologic(923;0.0487)		45					B2RBG1|C9JJD1|Q8IV22	Splice_Site	SNP	ENST00000254090.4	37	c.135_splice	CCDS926.1	.	.	.	.	.	.	.	.	.	.	T	16.87	3.240885	0.58995	.	.	ENSG00000131781	ENST00000441068;ENST00000254090;ENST00000369272;ENST00000533174;ENST00000533848	T;T;T;T;T	0.52754	0.65;0.65;0.65;0.65;0.65	5.37	5.37	0.77165	.	0.203643	0.51477	D	0.000089	T	0.13970	0.0338	N	0.04805	-0.155	0.47659	D	0.999488	B;B;B;B	0.14012	0.001;0.001;0.009;0.003	B;B;B;B	0.27715	0.006;0.006;0.033;0.082	T	0.13098	-1.0522	10	0.15499	T	0.54	-9.7839	13.6605	0.62363	0.0:0.0:0.0:1.0	.	45;45;45;45	Q9HA79;Q8IV22;P49326;C9JJD1	.;.;FMO5_HUMAN;.	R	45	ENSP00000416011:Q45R;ENSP00000254090:Q45R;ENSP00000358277:Q45R;ENSP00000436429:Q45R;ENSP00000432569:Q45R	ENSP00000254090:Q45R	Q	-	2	0	FMO5	145163112	1.000000	0.71417	1.000000	0.80357	0.969000	0.65631	4.804000	0.62554	2.168000	0.68352	0.529000	0.55759	CAG		0.522	FMO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040373.2	NM_001461	Missense_Mutation	28	74	0	0	0	1	0	28	74				
CARD6	84674	broad.mit.edu	37	5	40852583	40852583	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr5:40852583G>A	ENST00000254691.5	+	3	1348	c.1149G>A	c.(1147-1149)atG>atA	p.M383I	CARD6_ENST00000381677.3_Intron	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN	caspase recruitment domain family, member 6	383					apoptotic process (GO:0006915)|regulation of apoptotic process (GO:0042981)					NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						GTGCCACCATGCTGTGTTCAG	0.453																																						ENST00000254691.5																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|liver(2)|lung(29)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	62						c.(1147-1149)atG>atA		caspase recruitment domain family, member 6							83.0	78.0	79.0					5																	40852583		2203	4300	6503	SO:0001583	missense	84674				apoptosis|regulation of apoptosis	intracellular		g.chr5:40852583G>A	AF356193	CCDS3935.1	5p13.1	2008-05-23			ENSG00000132357	ENSG00000132357			16394	protein-coding gene	gene with protein product		609986				12775719	Standard	NM_032587		Approved	CINCIN1	uc003jmg.3	Q9BX69	OTTHUMG00000094775	ENST00000254691.5:c.1149G>A	5.37:g.40852583G>A	ENSP00000254691:p.Met383Ile					CARD6_ENST00000381677.3_Intron	p.M383I	NM_032587.3	NP_115976.2	Q9BX69	CARD6_HUMAN			3	1348	+			383					Q52LR2	Missense_Mutation	SNP	ENST00000254691.5	37	c.1149G>A	CCDS3935.1	.	.	.	.	.	.	.	.	.	.	G	9.793	1.178470	0.21787	.	.	ENSG00000132357	ENST00000254691;ENST00000509771	T	0.36157	1.27	5.36	5.36	0.76844	.	0.276497	0.32134	N	0.006527	T	0.35219	0.0924	L	0.54323	1.7	0.80722	D	1	B	0.30406	0.278	B	0.21360	0.034	T	0.20009	-1.0288	10	0.66056	D	0.02	-0.8806	16.6237	0.84936	0.0:0.0:1.0:0.0	.	383	Q9BX69	CARD6_HUMAN	I	383	ENSP00000254691:M383I	ENSP00000254691:M383I	M	+	3	0	CARD6	40888340	1.000000	0.71417	0.984000	0.44739	0.077000	0.17291	2.790000	0.47821	2.797000	0.96272	0.561000	0.74099	ATG		0.453	CARD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000211584.3			19	40	0	0	0	1	0	19	40				
SSH2	85464	broad.mit.edu	37	17	27977735	27977735	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:27977735T>C	ENST00000269033.3	-	12	1233	c.1082A>G	c.(1081-1083)gAt>gGt	p.D361G	SSH2_ENST00000540801.1_Missense_Mutation_p.D388G|RP11-68I3.2_ENST00000581474.1_RNA	NM_001282129.1|NM_033389.2	NP_001269058.1|NP_203747.2	Q76I76	SSH2_HUMAN	slingshot protein phosphatase 2	361	Tyrosine-protein phosphatase.				actin cytoskeleton organization (GO:0030036)|protein dephosphorylation (GO:0006470)|regulation of actin polymerization or depolymerization (GO:0008064)|regulation of axonogenesis (GO:0050770)|regulation of lamellipodium assembly (GO:0010591)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular space (GO:0005615)	actin binding (GO:0003779)|DNA binding (GO:0003677)|phosphoprotein phosphatase activity (GO:0004721)|protein tyrosine phosphatase activity (GO:0004725)|protein tyrosine/serine/threonine phosphatase activity (GO:0008138)		SSH2/SUZ12(2)	breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						TGCCTCTTCATCATATACCCG	0.418																																						ENST00000269033.3																		SSH2/SUZ12(2)	0				breast(1)|central_nervous_system(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(16)|ovary(1)|prostate(1)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	39						c.(1081-1083)gAt>gGt		slingshot protein phosphatase 2							210.0	184.0	192.0					17																	27977735		2203	4300	6503	SO:0001583	missense	85464				actin cytoskeleton organization|regulation of actin polymerization or depolymerization|regulation of axonogenesis|regulation of lamellipodium assembly	cytoplasm|cytoskeleton	actin binding|protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr17:27977735T>C	AB072359	CCDS11253.1, CCDS74024.1	17q11.2	2013-03-05	2013-03-05		ENSG00000141298	ENSG00000141298		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Slingshots"""	30580	protein-coding gene	gene with protein product		606779	"""slingshot homolog 2 (Drosophila)"""			11832213, 11214970	Standard	XM_005258059		Approved	KIAA1725	uc002heo.1	Q76I76	OTTHUMG00000132752	ENST00000269033.3:c.1082A>G	17.37:g.27977735T>C	ENSP00000269033:p.Asp361Gly					SSH2_ENST00000540801.1_Missense_Mutation_p.D388G|RP11-68I3.2_ENST00000581474.1_RNA	p.D361G	NM_033389.2	NP_203747.2	Q76I76	SSH2_HUMAN			12	1233	-			361			Tyrosine-protein phosphatase.		Q8TDB5|Q8WYL1|Q8WYL2|Q96F40|Q96H36|Q9C0D8	Missense_Mutation	SNP	ENST00000269033.3	37	c.1082A>G	CCDS11253.1	.	.	.	.	.	.	.	.	.	.	T	31	5.080178	0.94050	.	.	ENSG00000141298	ENST00000269033;ENST00000540801;ENST00000394848	T;T	0.73363	-0.74;-0.74	5.66	5.66	0.87406	Dual specificity phosphatase, catalytic domain (1);Dual specificity phosphatase, subgroup, catalytic domain (2);	0.000000	0.85682	D	0.000000	D	0.92338	0.7569	H	0.99249	4.485	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	D	0.95473	0.8553	10	0.87932	D	0	-16.8498	16.2026	0.82095	0.0:0.0:0.0:1.0	.	388;361;361	F5H527;Q76I76-4;Q76I76	.;.;SSH2_HUMAN	G	361;388;361	ENSP00000269033:D361G;ENSP00000444743:D388G	ENSP00000269033:D361G	D	-	2	0	SSH2	25001861	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.997000	0.88414	2.285000	0.76669	0.533000	0.62120	GAT		0.418	SSH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256116.1	NM_033389		39	68	0	0	0	1	0	39	68				
PRDM2	7799	broad.mit.edu	37	1	14108321	14108321	+	Missense_Mutation	SNP	A	A	C	rs149847070	byFrequency	TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:14108321A>C	ENST00000235372.7	+	8	4887	c.4031A>C	c.(4030-4032)aAt>aCt	p.N1344T	PRDM2_ENST00000413440.1_Missense_Mutation_p.N1143T|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.N1344T|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000343137.4_Missense_Mutation_p.N1143T|PRDM2_ENST00000503842.1_Intron	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	PR domain containing 2, with ZNF domain	1344					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)		GGTGTCGACAATATGCCGGAG	0.448																																						ENST00000235372.7																			0				endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(16)|lung(20)|ovary(3)|prostate(3)|skin(1)|urinary_tract(2)	55						c.(4030-4032)aAt>aCt		PR domain containing 2, with ZNF domain							128.0	123.0	125.0					1																	14108321		2203	4300	6503	SO:0001583	missense	7799					Golgi apparatus|nucleus	DNA binding|histone-lysine N-methyltransferase activity|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr1:14108321A>C	U17838	CCDS150.1, CCDS151.1, CCDS30603.1, CCDS44061.1	1p36	2011-07-01			ENSG00000116731	ENSG00000116731		"""Chromatin-modifying enzymes / K-methyltransferases"""	9347	protein-coding gene	gene with protein product	"""retinoblastoma protein-binding zinc finger protein"", ""retinoblastoma protein-interacting zinc finger protein"", ""MTE-binding protein"", ""zinc-finger DNA-binding protein"", ""GATA-3 binding protein G3B"""	601196				7538672	Standard	NM_012231		Approved	RIZ, RIZ1, RIZ2, KMT8, MTB-ZF, HUMHOXY1	uc001avi.3	Q13029	OTTHUMG00000007917	ENST00000235372.7:c.4031A>C	1.37:g.14108321A>C	ENSP00000235372:p.Asn1344Thr					PRDM2_ENST00000343137.4_Missense_Mutation_p.N1143T|PRDM2_ENST00000503842.1_Intron|PRDM2_ENST00000413440.1_Missense_Mutation_p.N1143T|PRDM2_ENST00000376048.5_Intron|PRDM2_ENST00000505823.1_Intron|PRDM2_ENST00000311066.5_Missense_Mutation_p.N1344T	p.N1344T	NM_012231.4	NP_036363.2	Q13029	PRDM2_HUMAN	GBM - Glioblastoma multiforme(2;0.00182)	UCEC - Uterine corpus endometrioid carcinoma (279;0.00224)|Colorectal(212;3.23e-08)|BRCA - Breast invasive adenocarcinoma(304;2.16e-05)|COAD - Colon adenocarcinoma(227;2.53e-05)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00446)|READ - Rectum adenocarcinoma(331;0.0276)|Lung(427;0.145)	8	4887	+	Ovarian(185;0.249)	all_lung(284;2.56e-05)|Lung NSC(185;4.94e-05)|Renal(390;0.000147)|Breast(348;0.000162)|Colorectal(325;0.00058)|Ovarian(437;0.00965)|Hepatocellular(190;0.0245)|Myeloproliferative disorder(586;0.0255)	1344					B1AJZ4|B5MC68|Q13149|Q14550|Q5THJ1|Q5VUL9	Missense_Mutation	SNP	ENST00000235372.7	37	c.4031A>C	CCDS150.1	.	.	.	.	.	.	.	.	.	.	A	19.06	3.754887	0.69648	.	.	ENSG00000116731	ENST00000235372;ENST00000311066;ENST00000400800;ENST00000413440;ENST00000343137	T;T;T;T	0.02916	4.22;4.11;4.12;4.12	6.17	6.17	0.99709	Zinc finger, C2H2-like (1);	0.000000	0.85682	D	0.000000	T	0.07279	0.0184	N	0.14661	0.345	0.58432	D	0.999995	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.91635	0.991;0.999;0.998	T	0.51212	-0.8734	10	0.52906	T	0.07	.	15.6462	0.77055	1.0:0.0:0.0:0.0	.	1202;1344;1344	Q5THJ0;Q13029;Q13029-2	.;PRDM2_HUMAN;.	T	1344;1344;1344;1143;1143	ENSP00000235372:N1344T;ENSP00000312352:N1344T;ENSP00000411103:N1143T;ENSP00000341621:N1143T	ENSP00000235372:N1344T	N	+	2	0	PRDM2	13980908	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	9.281000	0.95811	2.371000	0.80710	0.533000	0.62120	AAT		0.448	PRDM2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000021792.2	NM_012231		45	111	0	0	0	1	0	45	111				
FLG2	388698	broad.mit.edu	37	1	152326153	152326153	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:152326153T>A	ENST00000388718.5	-	3	4181	c.4109A>T	c.(4108-4110)cAc>cTc	p.H1370L	FLG-AS1_ENST00000392688.2_RNA|FLG-AS1_ENST00000445097.1_RNA	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	filaggrin family member 2	1370					establishment of skin barrier (GO:0061436)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|structural molecule activity (GO:0005198)			NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		LUSC - Lung squamous cell carcinoma(543;0.206)			AGCTTGGCTGTGAGTTTGTTC	0.488																																						ENST00000388718.5																			0				NS(2)|breast(7)|cervix(3)|endometrium(11)|kidney(9)|large_intestine(24)|liver(1)|lung(85)|ovary(12)|pancreas(1)|prostate(6)|skin(17)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(5)	188						c.(4108-4110)cAc>cTc		filaggrin family member 2							246.0	219.0	228.0					1																	152326153		2203	4300	6503	SO:0001583	missense	388698						calcium ion binding|structural molecule activity	g.chr1:152326153T>A	AY827490	CCDS30861.1	1q21.3	2013-01-10			ENSG00000143520	ENSG00000143520		"""EF-hand domain containing"""	33276	protein-coding gene	gene with protein product						12477932	Standard	NM_001014342		Approved	IFPS	uc001ezw.4	Q5D862	OTTHUMG00000012245	ENST00000388718.5:c.4109A>T	1.37:g.152326153T>A	ENSP00000373370:p.His1370Leu					FLG-AS1_ENST00000445097.1_RNA|FLG-AS1_ENST00000392688.2_RNA	p.H1370L	NM_001014342.2	NP_001014364.1	Q5D862	FILA2_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.206)		3	4181	-	Hepatocellular(266;0.0877)|Melanoma(130;0.116)|all_hematologic(923;0.127)		1370					Q9H4U1	Missense_Mutation	SNP	ENST00000388718.5	37	c.4109A>T	CCDS30861.1	.	.	.	.	.	.	.	.	.	.	T	11.32	1.604592	0.28623	.	.	ENSG00000143520	ENST00000388718	T	0.37915	1.17	3.5	2.35	0.29111	.	.	.	.	.	T	0.13586	0.0329	M	0.65498	2.005	0.09310	N	1	B	0.25105	0.118	B	0.19391	0.025	T	0.25082	-1.0142	9	0.22109	T	0.4	-0.344	5.8945	0.18931	0.0:0.1326:0.0:0.8674	.	1370	Q5D862	FILA2_HUMAN	L	1370	ENSP00000373370:H1370L	ENSP00000373370:H1370L	H	-	2	0	FLG2	150592777	0.001000	0.12720	0.002000	0.10522	0.060000	0.15804	0.210000	0.17455	0.513000	0.28278	0.254000	0.18369	CAC		0.488	FLG2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000034018.5	NM_001014342		8	156	0	0	0	1	0	8	156				
KIF26B	55083	broad.mit.edu	37	1	245848957	245848957	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:245848957C>A	ENST00000407071.2	+	12	3112	c.2672C>A	c.(2671-2673)cCt>cAt	p.P891H	KIF26B_ENST00000366518.4_Missense_Mutation_p.P510H	NM_018012.3	NP_060482.2	Q2KJY2	KI26B_HUMAN	kinesin family member 26B	891					establishment of cell polarity (GO:0030010)|metabolic process (GO:0008152)|positive regulation of cell-cell adhesion (GO:0022409)|ureteric bud invasion (GO:0072092)	cytoplasm (GO:0005737)|kinesin complex (GO:0005871)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		OV - Ovarian serous cystadenocarcinoma(106;0.022)			GACTTTGTCCCTATCGTGCCA	0.652																																						ENST00000366518.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(21)|ovary(4)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	51						c.(1528-1530)cCt>cAt		kinesin family member 26B							26.0	30.0	28.0					1																	245848957		1988	4133	6121	SO:0001583	missense	55083				microtubule-based movement	cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr1:245848957C>A	AK001019	CCDS44342.1	1q44	2008-02-05			ENSG00000162849	ENSG00000162849		"""Kinesins"""	25484	protein-coding gene	gene with protein product		614026					Standard	NM_018012		Approved	FLJ10157	uc001ibf.1	Q2KJY2	OTTHUMG00000040079	ENST00000407071.2:c.2672C>A	1.37:g.245848957C>A	ENSP00000385545:p.Pro891His					KIF26B_ENST00000407071.2_Missense_Mutation_p.P891H	p.P510H			Q2KJY2	KI26B_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.022)		9	1633	+	all_cancers(71;3.86e-05)|all_epithelial(71;0.000121)|Ovarian(71;0.0412)|all_lung(81;0.0498)|Lung NSC(105;0.0708)|Breast(184;0.127)		891			Kinesin-motor.		Q6ZQR9|Q6ZUZ0|Q8IUN3|Q8IVR1|Q9NWB4	Missense_Mutation	SNP	ENST00000407071.2	37	c.1529C>A	CCDS44342.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.368563	0.82463	.	.	ENSG00000162849	ENST00000407071;ENST00000366518;ENST00000413001	D;D	0.86230	-2.09;-1.8	5.71	5.71	0.89125	.	.	.	.	.	D	0.94288	0.8165	M	0.83223	2.63	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.94449	0.7665	9	0.87932	D	0	.	19.8551	0.96755	0.0:1.0:0.0:0.0	.	510;891	B7WPD9;Q2KJY2	.;KI26B_HUMAN	H	891;510;507	ENSP00000385545:P891H;ENSP00000355475:P510H	ENSP00000355475:P510H	P	+	2	0	KIF26B	243915580	1.000000	0.71417	1.000000	0.80357	0.989000	0.77384	7.798000	0.85924	2.707000	0.92482	0.561000	0.74099	CCT		0.652	KIF26B-005	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000381037.1	XM_371354		8	32	1	0	0.0477658	1	0.0483166	8	32				
TRIM25	7706	broad.mit.edu	37	17	54985903	54985903	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:54985903T>C	ENST00000316881.4	-	2	668	c.619A>G	c.(619-621)Act>Gct	p.T207A	TRIM25_ENST00000537230.1_Missense_Mutation_p.T207A	NM_005082.4	NP_005073.2	Q14258	TRI25_HUMAN	tripartite motif containing 25	207	Interaction with influenza A virus NS1.				defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of type I interferon production (GO:0032480)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein ubiquitination (GO:0016567)|regulation of viral entry into host cell (GO:0046596)|regulation of viral release from host cell (GO:1902186)|response to estrogen (GO:0043627)|response to vitamin D (GO:0033280)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	acid-amino acid ligase activity (GO:0016881)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21	Breast(9;6.15e-08)					TACATGACAGTTAGTTTGTGC	0.562																																						ENST00000316881.4																			0				breast(2)|endometrium(2)|kidney(4)|large_intestine(3)|lung(6)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	21						c.(619-621)Act>Gct		tripartite motif containing 25							132.0	94.0	107.0					17																	54985903		2203	4300	6503	SO:0001583	missense	7706				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production|response to virus	cell junction|cytosol|nucleus	sequence-specific DNA binding transcription factor activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr17:54985903T>C	D21205	CCDS11591.1	17q23.1	2013-01-09	2011-01-25	2004-03-30				"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	12932	protein-coding gene	gene with protein product		600453	"""zinc finger protein 147 (estrogen-responsive finger protein)"", ""tripartite motif-containing 25"""	ZNF147		7789997	Standard	NM_005082		Approved	EFP, RNF147	uc002iut.3	Q14258		ENST00000316881.4:c.619A>G	17.37:g.54985903T>C	ENSP00000323889:p.Thr207Ala					TRIM25_ENST00000537230.1_Missense_Mutation_p.T207A	p.T207A	NM_005082.4	NP_005073.2	Q14258	TRI25_HUMAN			2	668	-	Breast(9;6.15e-08)		207			Interaction with influenza A virus NS1.			Missense_Mutation	SNP	ENST00000316881.4	37	c.619A>G	CCDS11591.1	.	.	.	.	.	.	.	.	.	.	T	9.932	1.215175	0.22373	.	.	ENSG00000121060	ENST00000316881;ENST00000537230	T;T	0.55930	0.49;0.49	4.38	0.713	0.18173	.	0.410140	0.23440	N	0.048145	T	0.34454	0.0898	L	0.52266	1.64	0.09310	N	1	B	0.16396	0.017	B	0.17433	0.018	T	0.19582	-1.0301	10	0.07644	T	0.81	.	2.7928	0.05393	0.3912:0.1204:0.0:0.4884	.	207	Q14258	TRI25_HUMAN	A	207	ENSP00000323889:T207A;ENSP00000445961:T207A	ENSP00000323889:T207A	T	-	1	0	TRIM25	52340902	0.199000	0.23386	0.003000	0.11579	0.764000	0.43329	0.324000	0.19610	0.075000	0.16796	0.533000	0.62120	ACT		0.562	TRIM25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440609.1	NM_005082		28	76	0	0	0	1	0	28	76				
HEPH	9843	broad.mit.edu	37	X	65480037	65480037	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chrX:65480037G>A	ENST00000343002.2	+	18	3796	c.3132G>A	c.(3130-3132)atG>atA	p.M1044I	HEPH_ENST00000374727.3_Missense_Mutation_p.M1047I|HEPH_ENST00000336279.5_Missense_Mutation_p.M777I|HEPH_ENST00000419594.1_Missense_Mutation_p.M855I|HEPH_ENST00000441993.2_Missense_Mutation_p.M1047I|HEPH_ENST00000519389.1_Missense_Mutation_p.M1098I			Q9BQS7	HEPH_HUMAN	hephaestin	1044	Plastocyanin-like 6.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|iron ion transport (GO:0006826)|transmembrane transport (GO:0055085)	basolateral plasma membrane (GO:0016323)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	copper ion binding (GO:0005507)|ferrous iron binding (GO:0008198)|ferroxidase activity (GO:0004322)			endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						CATGGCTGATGCACTGCCATG	0.517																																						ENST00000519389.1																			0				endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(5)|lung(56)|ovary(5)|prostate(1)|skin(8)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	89						c.(3292-3294)atG>atA		hephaestin							119.0	93.0	102.0					X																	65480037		2203	4300	6503	SO:0001583	missense	9843				cellular iron ion homeostasis|copper ion transport|transmembrane transport	integral to membrane|plasma membrane	copper ion binding|oxidoreductase activity	g.chrX:65480037G>A	AB014598	CCDS14384.2, CCDS14385.1, CCDS48133.1, CCDS14384.3, CCDS65277.1	Xq11-q12	2008-02-05			ENSG00000089472	ENSG00000089472			4866	protein-coding gene	gene with protein product		300167				9988272, 9734811	Standard	NM_014799		Approved	KIAA0698, CPL	uc011moz.2	Q9BQS7	OTTHUMG00000021732	ENST00000343002.2:c.3132G>A	X.37:g.65480037G>A	ENSP00000343939:p.Met1044Ile					HEPH_ENST00000419594.1_Missense_Mutation_p.M855I|HEPH_ENST00000343002.2_Missense_Mutation_p.M1044I|HEPH_ENST00000374727.3_Missense_Mutation_p.M1047I|HEPH_ENST00000441993.2_Missense_Mutation_p.M1047I|HEPH_ENST00000336279.5_Missense_Mutation_p.M777I	p.M1098I			Q9BQS7	HEPH_HUMAN			19	3473	+			1044					B1AJX8|D3DVT7|E9PHN8|O75180|Q6UW45|Q9C058	Missense_Mutation	SNP	ENST00000343002.2	37	c.3294G>A		.	.	.	.	.	.	.	.	.	.	G	11.70	1.716296	0.30413	.	.	ENSG00000089472	ENST00000519389;ENST00000374727;ENST00000336279;ENST00000441993;ENST00000419594;ENST00000343002	D;D;D;D;D;D	0.99735	-6.58;-6.58;-6.58;-6.58;-6.58;-6.58	4.81	-0.0687	0.13755	Cupredoxin (2);Multicopper oxidase, type 2 (1);	0.382898	0.30177	N	0.010223	D	0.97848	0.9293	L	0.35723	1.085	0.29368	N	0.864193	B;B;B	0.17852	0.0;0.024;0.0	B;B;B	0.18871	0.001;0.023;0.002	D	0.96412	0.9305	10	0.42905	T	0.14	.	3.5004	0.07670	0.3361:0.0:0.2525:0.4114	.	1098;855;1044	E9PHN8;E7ES21;Q9BQS7	.;.;HEPH_HUMAN	I	1098;1047;777;1047;855;1044	ENSP00000430620:M1098I;ENSP00000363859:M1047I;ENSP00000337418:M777I;ENSP00000411687:M1047I;ENSP00000413211:M855I;ENSP00000343939:M1044I	ENSP00000337418:M777I	M	+	3	0	HEPH	65396762	0.239000	0.23836	0.858000	0.33744	0.963000	0.63663	-0.561000	0.05957	-0.392000	0.07751	0.600000	0.82982	ATG		0.517	HEPH-002	KNOWN	alternative_5_UTR|basic|appris_candidate	protein_coding	protein_coding	OTTHUMT00000056995.1	NM_138737		19	15	0	0	0	1	0	19	15				
TBP	6908	broad.mit.edu	37	6	170871058	170871058	+	Silent	SNP	G	G	A	rs113440919		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr6:170871058G>A	ENST00000392092.2	+	3	513	c.234G>A	c.(232-234)caG>caA	p.Q78Q	TBP_ENST00000230354.6_Silent_p.Q78Q|TBP_ENST00000540980.1_Silent_p.Q58Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN	TATA box binding protein	78	Poly-Gln.				cell death (GO:0008219)|gene expression (GO:0010467)|positive regulation of transcription, DNA-templated (GO:0045893)|spermatogenesis (GO:0007283)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase I promoter (GO:0006361)|transcription initiation from RNA polymerase II promoter (GO:0006367)|viral process (GO:0016032)	cytoplasm (GO:0005737)|female pronucleus (GO:0001939)|male pronucleus (GO:0001940)|nuclear euchromatin (GO:0005719)|nucleoplasm (GO:0005654)|transcription factor TFIIA complex (GO:0005672)|transcription factor TFIID complex (GO:0005669)	repressing transcription factor binding (GO:0070491)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)		agcagcagcagcagcagcagc	0.577																																						ENST00000392092.2																			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(2)|lung(9)|ovary(1)|prostate(4)|urinary_tract(1)	26						c.(232-234)caG>caA		TATA box binding protein							13.0	18.0	16.0					6																	170871058		1927	3786	5713	SO:0001819	synonymous_variant	6908				cell death|interspecies interaction between organisms|transcription elongation from RNA polymerase II promoter|transcription from RNA polymerase III promoter|viral reproduction	transcription factor TFIIA complex|transcription factor TFIID complex	repressing transcription factor binding|transcription regulatory region DNA binding	g.chr6:170871058G>A	M55654	CCDS5315.1, CCDS55077.1	6q27	2014-04-02			ENSG00000112592	ENSG00000112592		"""General transcription factors"""	11588	protein-coding gene	gene with protein product		600075		GTF2D1, SCA17		2194289, 11448935	Standard	NM_003194		Approved	TFIID	uc003qxu.3	P20226	OTTHUMG00000016084	ENST00000392092.2:c.234G>A	6.37:g.170871058G>A						TBP_ENST00000540980.1_Silent_p.Q58Q|TBP_ENST00000230354.6_Silent_p.Q78Q	p.Q78Q	NM_003194.4	NP_003185.1	P20226	TBP_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;1.07e-22)|BRCA - Breast invasive adenocarcinoma(81;5.01e-06)|GBM - Glioblastoma multiforme(31;0.00591)	3	513	+		Breast(66;5.08e-05)|Ovarian(120;0.125)|Esophageal squamous(34;0.246)	78			Poly-Gln.		B4E3B3|F5H869|Q16845|Q6IBM6|Q9UC02	Silent	SNP	ENST00000392092.2	37	c.234G>A	CCDS5315.1																																																																																				0.577	TBP-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043271.2	NM_003194		4	54	0	0	0	1	0	4	54				
ZBTB18	10472	broad.mit.edu	37	1	244218342	244218342	+	Silent	SNP	G	G	A	rs147690899		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:244218342G>A	ENST00000358704.4	+	2	1415	c.1266G>A	c.(1264-1266)tcG>tcA	p.S422S		NM_001278196.1|NM_006352.4|NM_205768.2	NP_001265125.1|NP_006343.2|NP_991331.1	Q99592	ZBT18_HUMAN	zinc finger and BTB domain containing 18	413	Interaction with DNMT3A.				cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron development (GO:0048666)|regulation of cell division (GO:0051302)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)										CCACGTGCTCGCTGTGTGGGA	0.632																																						ENST00000358704.4																			0											c.(1264-1266)tcG>tcA		zinc finger and BTB domain containing 18		G	,	0,4406		0,0,2203	61.0	63.0	62.0		1239,1266	-9.9	0.6	1	dbSNP_134	62	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous	ZNF238	NM_006352.3,NM_205768.2	,	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	,	413/523,422/532	244218342	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	10472							g.chr1:244218342G>A	U38896	CCDS1622.1	1q44	2013-09-19	2013-01-09	2013-01-09	ENSG00000179456	ENSG00000179456		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13030	protein-coding gene	gene with protein product		608433	"""zinc finger protein 238"""	ZNF238		9568537, 9013868	Standard	NM_205768		Approved	C2H2-171, TAZ-1, RP58	uc031psv.1	Q99592	OTTHUMG00000040013	ENST00000358704.4:c.1266G>A	1.37:g.244218342G>A							p.S422S	NM_001278196.1|NM_006352.4|NM_205768.2	NP_001265125.1|NP_006343.2|NP_991331.1					2	1415	+								A8K5U3|Q13397|Q5VU40|Q8N463|Q9UD99	Silent	SNP	ENST00000358704.4	37	c.1266G>A	CCDS1622.1																																																																																				0.632	ZBTB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096513.2	NM_205768		32	72	0	0	0	1	0	32	72				
CYP8B1	1582	broad.mit.edu	37	3	42916638	42916638	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr3:42916638C>A	ENST00000316161.4	-	1	995	c.671G>T	c.(670-672)cGg>cTg	p.R224L	KRBOX1_ENST00000426937.1_Intron|CYP8B1_ENST00000437102.1_Missense_Mutation_p.R224L|RP11-141M3.5_ENST00000471537.1_RNA	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN	cytochrome P450, family 8, subfamily B, polypeptide 1	224					bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|lipid metabolic process (GO:0006629)|small molecule metabolic process (GO:0044281)|sterol metabolic process (GO:0016125)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity (GO:0033778)|heme binding (GO:0020037)|iron ion binding (GO:0005506)|oxygen binding (GO:0019825)|sterol 12-alpha-hydroxylase activity (GO:0008397)			NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23				KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)		TAGCCACTCCCGGGGCCACAG	0.567																																						ENST00000316161.4																			0				NS(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(5)|ovary(2)|prostate(2)|skin(5)	23						c.(670-672)cGg>cTg		cytochrome P450, family 8, subfamily B, polypeptide 1							32.0	34.0	34.0					3																	42916638		2192	4293	6485	SO:0001583	missense	1582				bile acid biosynthetic process|xenobiotic metabolic process	endoplasmic reticulum membrane|integral to membrane|microsome	7alpha-hydroxycholest-4-en-3-one 12alpha-hydroxylase activity|electron carrier activity|heme binding|oxygen binding|sterol 12-alpha-hydroxylase activity	g.chr3:42916638C>A	AF090318	CCDS2707.1	3p22.1	2004-02-27	2003-01-14		ENSG00000180432	ENSG00000180432		"""Cytochrome P450s"""	2653	protein-coding gene	gene with protein product		602172	"""cytochrome P450, subfamily VIIIB (sterol 12-alpha-hydroxylase), polypeptide 1"""			10051404	Standard	NM_004391		Approved	CYP12	uc003cmh.3	Q9UNU6	OTTHUMG00000133047	ENST00000316161.4:c.671G>T	3.37:g.42916638C>A	ENSP00000318867:p.Arg224Leu					CYP8B1_ENST00000437102.1_Missense_Mutation_p.R224L|KRBOX1_ENST00000426937.1_Intron|ACKR2_ENST00000471537.1_Intron	p.R224L	NM_004391.2	NP_004382.2	Q9UNU6	CP8B1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.213)|Kidney(284;0.249)	1	995	-			224					B2RCY3|O75958|Q6NWT2|Q6NWT3	Missense_Mutation	SNP	ENST00000316161.4	37	c.671G>T	CCDS2707.1	.	.	.	.	.	.	.	.	.	.	C	3.707	-0.060291	0.07317	.	.	ENSG00000180432	ENST00000437102;ENST00000316161	T;T	0.68903	-0.36;-0.36	5.34	-2.33	0.06724	.	0.805437	0.10430	N	0.675640	T	0.56877	0.2015	L	0.51422	1.61	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.12156	0.007;0.004	T	0.46748	-0.9169	10	0.27785	T	0.31	-7.2645	11.9136	0.52753	0.0:0.4965:0.0:0.5035	.	224;224	C9JFR9;Q9UNU6	.;CP8B1_HUMAN	L	224	ENSP00000404499:R224L;ENSP00000318867:R224L	ENSP00000318867:R224L	R	-	2	0	CYP8B1	42891642	0.000000	0.05858	0.305000	0.25099	0.190000	0.23558	-0.385000	0.07379	-0.330000	0.08514	-1.366000	0.01203	CGG		0.567	CYP8B1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256653.1	NM_004391		18	17	1	0	1.96292e-10	1	2.17551e-10	18	17				
AGPAT2	10555	broad.mit.edu	37	9	139571981	139571981	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr9:139571981G>T	ENST00000371696.2	-	2	275	c.210C>A	c.(208-210)ttC>ttA	p.F70L	AGPAT2_ENST00000371694.3_Missense_Mutation_p.F70L|AGPAT2_ENST00000538402.1_Missense_Mutation_p.F70L	NM_006412.3	NP_006403.2	O15120	PLCB_HUMAN	1-acylglycerol-3-phosphate O-acyltransferase 2	70					CDP-diacylglycerol biosynthetic process (GO:0016024)|cellular lipid metabolic process (GO:0044255)|epidermis development (GO:0008544)|glycerophospholipid biosynthetic process (GO:0046474)|phosphatidic acid biosynthetic process (GO:0006654)|phospholipid metabolic process (GO:0006644)|positive regulation of cytokine production (GO:0001819)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	1-acylglycerol-3-phosphate O-acyltransferase activity (GO:0003841)			endometrium(1)|large_intestine(1)|lung(2)|prostate(2)	6	all_cancers(76;0.0893)|all_epithelial(76;0.231)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)		AAAAGTACTTGAAGCTTCGCA	0.657																																						ENST00000371696.2																			0				endometrium(1)|large_intestine(1)|lung(2)|prostate(2)	6						c.(208-210)ttC>ttA		1-acylglycerol-3-phosphate O-acyltransferase 2							33.0	36.0	35.0					9																	139571981		2202	4300	6502	SO:0001583	missense	10555				phosphatidic acid biosynthetic process|positive regulation of cytokine production|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane	1-acylglycerol-3-phosphate O-acyltransferase activity	g.chr9:139571981G>T	AF000237	CCDS7003.1, CCDS35181.1	9q34.3	2013-02-05	2013-02-05		ENSG00000169692	ENSG00000169692	2.3.1.51	"""1-acylglycerol-3-phosphate O-acyltransferases"""	325	protein-coding gene	gene with protein product	"""LPAAT-beta"", ""lysophosphatidic acid acyltransferase, beta"""	603100	"""Berardinelli-Seip congenital lipodystrophy"", ""1-acylglycerol-3-phosphate O-acyltransferase 2 (lysophosphatidic acid acyltransferase, beta)"""	BSCL		9242711, 9212163	Standard	NM_006412		Approved		uc004cii.1	O15120	OTTHUMG00000020936	ENST00000371696.2:c.210C>A	9.37:g.139571981G>T	ENSP00000360761:p.Phe70Leu					AGPAT2_ENST00000538402.1_Missense_Mutation_p.F70L|AGPAT2_ENST00000371694.3_Missense_Mutation_p.F70L	p.F70L	NM_006412.3	NP_006403.2	O15120	PLCB_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;9.87e-06)|Epithelial(140;0.000123)	2	275	-	all_cancers(76;0.0893)|all_epithelial(76;0.231)	Myeloproliferative disorder(178;0.0511)	70					O00516|O15106|Q5VUD3|Q5VUD4|Q9BSV7|Q9BWR7	Missense_Mutation	SNP	ENST00000371696.2	37	c.210C>A	CCDS7003.1	.	.	.	.	.	.	.	.	.	.	g	9.149	1.015754	0.19355	.	.	ENSG00000169692	ENST00000371694;ENST00000371696;ENST00000538402	D;D;D	0.94497	-3.44;-3.44;-3.44	4.54	3.4	0.38934	.	0.065242	0.64402	D	0.000008	D	0.88448	0.6439	L	0.46157	1.445	0.40400	D	0.979634	B;B	0.06786	0.001;0.0	B;B	0.09377	0.004;0.002	T	0.78819	-0.2054	10	0.02654	T	1	-6.6867	8.0894	0.30793	0.1055:0.1661:0.7284:0.0	.	70;70	O15120-2;O15120	.;PLCB_HUMAN	L	70	ENSP00000360759:F70L;ENSP00000360761:F70L;ENSP00000438919:F70L	ENSP00000360759:F70L	F	-	3	2	AGPAT2	138691802	1.000000	0.71417	1.000000	0.80357	0.750000	0.42670	0.555000	0.23422	2.069000	0.61940	0.455000	0.32223	TTC		0.657	AGPAT2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055090.1	NM_006412		20	42	1	0	3.51602e-12	1	3.95391e-12	20	42				
AHNAK2	113146	broad.mit.edu	37	14	105406587	105406587	+	Silent	SNP	G	G	A	rs368198892		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr14:105406587G>A	ENST00000333244.5	-	7	15320	c.15201C>T	c.(15199-15201)gaC>gaT	p.D5067D	AHNAK2_ENST00000557457.1_Silent_p.D65D	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	AHNAK nucleoprotein 2	5067						costamere (GO:0043034)|cytoplasm (GO:0005737)|cytoplasmic vesicle membrane (GO:0030659)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|Z disc (GO:0030018)				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)			CCCTACCACCGTCACTGCTGG	0.572																																						ENST00000333244.5																			0				cervix(4)|endometrium(4)|large_intestine(3)|lung(14)|ovary(2)|prostate(2)|skin(1)|stomach(3)	33						c.(15199-15201)gaC>gaT		AHNAK nucleoprotein 2		G		1,4141		0,1,2070	108.0	115.0	112.0		15201	-6.6	0.0	14		112	0,8406		0,0,4203	no	coding-synonymous	AHNAK2	NM_138420.2		0,1,6273	AA,AG,GG		0.0,0.0241,0.0080		5067/5796	105406587	1,12547	2071	4203	6274	SO:0001819	synonymous_variant	113146					nucleus		g.chr14:105406587G>A	AB095939	CCDS45177.1	14q32.33	2010-04-01	2007-03-26	2007-03-26	ENSG00000185567	ENSG00000185567			20125	protein-coding gene	gene with protein product		608570	"""chromosome 14 open reading frame 78"""	C14orf78		15007166	Standard	NM_138420		Approved		uc010axc.1	Q8IVF2		ENST00000333244.5:c.15201C>T	14.37:g.105406587G>A						AHNAK2_ENST00000557457.1_Silent_p.D65D	p.D5067D	NM_138420.2	NP_612429.2	Q8IVF2	AHNK2_HUMAN	all cancers(16;0.000479)|OV - Ovarian serous cystadenocarcinoma(23;0.00659)|Epithelial(46;0.0151)|GBM - Glioblastoma multiforme(11;0.116)		7	15320	-		all_cancers(154;0.115)|Melanoma(154;0.155)|all_epithelial(191;0.183)	5067					Q5BKX7|Q7Z343|Q7Z358|Q7Z394|Q7Z3G0|Q86WQ6|Q8IYY1|Q8N3G4|Q96EX9	Silent	SNP	ENST00000333244.5	37	c.15201C>T	CCDS45177.1																																																																																				0.572	AHNAK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000410300.1	NM_138420		42	51	0	0	0	1	0	42	51				
REG3G	130120	broad.mit.edu	37	2	79254236	79254236	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:79254236T>A	ENST00000272324.5	+	4	456	c.272T>A	c.(271-273)cTg>cAg	p.L91Q	REG3G_ENST00000393897.2_Missense_Mutation_p.L91Q|REG3G_ENST00000409471.1_Intron	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN	regenerating islet-derived 3 gamma	91	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				acute-phase response (GO:0006953)|defense response to Gram-positive bacterium (GO:0050830)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|negative regulation of keratinocyte differentiation (GO:0045617)|positive regulation of keratinocyte proliferation (GO:0010838)|positive regulation of wound healing (GO:0090303)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)	carbohydrate binding (GO:0030246)			NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GTGTCCTCCCTGGTGAGGAGC	0.537																																						ENST00000272324.5																			0				NS(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(27)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(271-273)cTg>cAg		regenerating islet-derived 3 gamma							161.0	146.0	151.0					2																	79254236		2203	4300	6503	SO:0001583	missense	130120				acute-phase response	extracellular region	sugar binding	g.chr2:79254236T>A	AY359047	CCDS1962.1, CCDS58714.1	2p12	2005-02-11			ENSG00000143954	ENSG00000143954			29595	protein-coding gene	gene with protein product		609933				12975309	Standard	NM_001008387		Approved	UNQ429, LPPM429, PAP1B	uc002snx.4	Q6UW15	OTTHUMG00000130018	ENST00000272324.5:c.272T>A	2.37:g.79254236T>A	ENSP00000272324:p.Leu91Gln					REG3G_ENST00000393897.2_Missense_Mutation_p.L91Q|REG3G_ENST00000409471.1_Intron	p.L91Q	NM_001008387.2	NP_001008388.1	Q6UW15	REG3G_HUMAN			4	456	+			91			C-type lectin.		A8K980|D6W5J6|Q3SYE4|Q3SYE6|Q6FH18	Missense_Mutation	SNP	ENST00000272324.5	37	c.272T>A	CCDS1962.1	.	.	.	.	.	.	.	.	.	.	T	14.76	2.631252	0.46944	.	.	ENSG00000143954	ENST00000393897;ENST00000272324	T;T	0.19250	2.16;2.16	4.83	2.31	0.28768	C-type lectin fold (1);C-type lectin-like (1);C-type lectin (3);	0.000000	0.40728	N	0.001034	T	0.41696	0.1170	M	0.85462	2.755	0.09310	N	1	D	0.61697	0.99	D	0.69824	0.966	T	0.18777	-1.0326	10	0.72032	D	0.01	.	3.7608	0.08603	0.1884:0.1002:0.0:0.7114	.	91	Q6UW15	REG3G_HUMAN	Q	91	ENSP00000377475:L91Q;ENSP00000272324:L91Q	ENSP00000272324:L91Q	L	+	2	0	REG3G	79107744	0.204000	0.23447	0.006000	0.13384	0.041000	0.13682	3.277000	0.51654	0.980000	0.38523	-0.250000	0.11733	CTG		0.537	REG3G-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000328247.1	NM_198448		62	134	0	0	0	1	0	62	134				
ETS1	2113	broad.mit.edu	37	11	128350255	128350255	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:128350255G>T	ENST00000319397.6	-	6	1131	c.822C>A	c.(820-822)ttC>ttA	p.F274L	ETS1_ENST00000535549.1_Missense_Mutation_p.F58L|ETS1_ENST00000526145.2_Intron|ETS1_ENST00000531611.1_Intron|ETS1_ENST00000345075.4_Intron|ETS1_ENST00000392668.4_Missense_Mutation_p.F318L	NM_005238.3	NP_005229.1	P14921	ETS1_HUMAN	v-ets avian erythroblastosis virus E26 oncogene homolog 1	274					angiogenesis involved in wound healing (GO:0060055)|cell motility (GO:0048870)|cellular response to hydrogen peroxide (GO:0070301)|estrous cycle phase (GO:0060206)|female pregnancy (GO:0007565)|hypothalamus development (GO:0021854)|immune response (GO:0006955)|negative regulation of cell cycle (GO:0045786)|negative regulation of cell proliferation (GO:0008285)|pituitary gland development (GO:0021983)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular component movement (GO:0051272)|positive regulation of endothelial cell migration (GO:0010595)|positive regulation of erythrocyte differentiation (GO:0045648)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of angiogenesis (GO:0045765)|regulation of apoptotic process (GO:0042981)|regulation of extracellular matrix disassembly (GO:0010715)|response to antibiotic (GO:0046677)|response to estradiol (GO:0032355)|response to hypoxia (GO:0001666)|response to interleukin-1 (GO:0070555)|response to laminar fluid shear stress (GO:0034616)|response to mechanical stimulus (GO:0009612)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|intercellular bridge (GO:0045171)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)		GCAGGCTGTTGAAAGATGACT	0.552																																						ENST00000392668.3																			0				breast(1)|central_nervous_system(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(5)|kidney(1)|large_intestine(3)|lung(15)|ovary(1)|pleura(1)|prostate(1)|upper_aerodigestive_tract(3)	35						c.(952-954)ttC>ttA		v-ets avian erythroblastosis virus E26 oncogene homolog 1							106.0	96.0	99.0					11																	128350255		2201	4297	6498	SO:0001583	missense	2113				cell motility|immune response|induction of apoptosis|negative regulation of cell cycle|negative regulation of cell proliferation|PML body organization|positive regulation of cellular component movement|positive regulation of erythrocyte differentiation|positive regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|response to antibiotic|transcription from RNA polymerase II promoter	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr11:128350255G>T		CCDS8475.1, CCDS44767.1, CCDS53724.1	11q23.3	2013-07-09	2013-07-09		ENSG00000134954	ENSG00000134954			3488	protein-coding gene	gene with protein product	"""Avian erythroblastosis virus E26 (v-ets) oncogene homolog-1"", ""ets protein"""	164720		EWSR2		1522903	Standard	NM_005238		Approved	FLJ10768, ETS-1	uc001qej.2	P14921	OTTHUMG00000165799	ENST00000319397.6:c.822C>A	11.37:g.128350255G>T	ENSP00000324578:p.Phe274Leu					ETS1_ENST00000526145.1_Intron|ETS1_ENST00000535549.1_Missense_Mutation_p.F58L|ETS1_ENST00000319397.5_Missense_Mutation_p.F274L|ETS1_ENST00000345075.4_Intron|ETS1_ENST00000531611.1_Intron	p.F318L	NM_001143820.1	NP_001137292.1	P14921	ETS1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.47e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0174)|LUSC - Lung squamous cell carcinoma(976;0.0815)|Lung(307;0.0833)	8	1022	-	all_hematologic(175;0.0537)	Lung NSC(97;0.000542)|all_lung(97;0.000665)|Breast(109;0.00765)|all_neural(223;0.0351)|Medulloblastoma(222;0.0425)	274					A9UL17|F5GYX9|Q14278|Q16080|Q6N087|Q96AC5	Missense_Mutation	SNP	ENST00000319397.6	37	c.954C>A	CCDS8475.1	.	.	.	.	.	.	.	.	.	.	G	10.10	1.257348	0.22965	.	.	ENSG00000134954	ENST00000535549;ENST00000392668;ENST00000319397	T;T;T	0.15603	2.41;2.89;2.91	5.63	5.63	0.86233	.	0.051234	0.85682	D	0.000000	T	0.09113	0.0225	N	0.05177	-0.1	0.58432	D	0.999999	B;B;B	0.12013	0.0;0.002;0.005	B;B;B	0.08055	0.001;0.002;0.003	T	0.13899	-1.0492	10	0.05351	T	0.99	.	19.6787	0.95950	0.0:0.0:1.0:0.0	.	274;58;318	P14921;F5GYX9;Q6N087	ETS1_HUMAN;.;.	L	58;318;274	ENSP00000441430:F58L;ENSP00000376436:F318L;ENSP00000324578:F274L	ENSP00000324578:F274L	F	-	3	2	ETS1	127855465	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	5.392000	0.66272	2.636000	0.89361	0.655000	0.94253	TTC		0.552	ETS1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386269.2	NM_005238		10	66	1	0	5.16669e-11	1	5.73661e-11	10	66				
C9orf163	158055	broad.mit.edu	37	9	139379139	139379139	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr9:139379139G>A	ENST00000354376.1	+	1	1193	c.239G>A	c.(238-240)cGc>cAc	p.R80H		NM_152571.2	NP_689784.1	Q8N9P6	CI163_HUMAN	chromosome 9 open reading frame 163	80										kidney(1)|lung(1)	2		Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;4.36e-06)|Epithelial(140;5.65e-06)		CAGCAGGGCCGCAGGCGGTGC	0.652																																						ENST00000354376.1																			0				kidney(1)|lung(1)	2						c.(238-240)cGc>cAc		chromosome 9 open reading frame 163							33.0	34.0	34.0					9																	139379139		2203	4300	6503	SO:0001583	missense	158055						protein binding	g.chr9:139379139G>A	AK055336	CCDS7001.1	9q34.3	2006-03-21			ENSG00000196366	ENSG00000196366			26718	protein-coding gene	gene with protein product							Standard	NM_152571		Approved	FLJ36779	uc004chy.3	Q8N9P6	OTTHUMG00000131725	ENST00000354376.1:c.239G>A	9.37:g.139379139G>A	ENSP00000346345:p.Arg80His						p.R80H	NM_152571.2	NP_689784.1	Q8N9P6	CI163_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.36e-06)|Epithelial(140;5.65e-06)	1	1193	+		Myeloproliferative disorder(178;0.0511)	80						Missense_Mutation	SNP	ENST00000354376.1	37	c.239G>A	CCDS7001.1	.	.	.	.	.	.	.	.	.	.	G	7.926	0.739538	0.15642	.	.	ENSG00000196366	ENST00000354376	T	0.55930	0.49	2.88	-2.67	0.06059	.	.	.	.	.	T	0.22936	0.0554	N	0.08118	0	0.09310	N	1	P	0.49358	0.923	B	0.38562	0.276	T	0.17077	-1.0381	9	0.87932	D	0	.	1.0198	0.01515	0.1645:0.2345:0.3553:0.2458	.	80	Q8N9P6	CI163_HUMAN	H	80	ENSP00000346345:R80H	ENSP00000346345:R80H	R	+	2	0	C9orf163	138498960	0.000000	0.05858	0.000000	0.03702	0.018000	0.09664	-1.109000	0.03309	-0.687000	0.05162	-0.234000	0.12200	CGC		0.652	C9orf163-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254644.1	NM_152571		17	31	0	0	0	1	0	17	31				
BTN2A2	10385	broad.mit.edu	37	6	26385404	26385404	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr6:26385404A>G	ENST00000356709.4	+	3	367	c.256A>G	c.(256-258)Aga>Gga	p.R86G	BTN2A2_ENST00000352867.2_Intron|BTN2A2_ENST00000469230.1_Missense_Mutation_p.R86G|BTN2A2_ENST00000482536.1_Intron|BTN2A2_ENST00000432533.2_Missense_Mutation_p.R86G|BTN2A2_ENST00000416795.2_Missense_Mutation_p.R86G	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN	butyrophilin, subfamily 2, member A2	86	Ig-like V-type.				negative regulation of activated T cell proliferation (GO:0046007)|negative regulation of cellular metabolic process (GO:0031324)|negative regulation of cytokine secretion (GO:0050710)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						TAAGGGTGGGAGAGAGAGAAC	0.537																																						ENST00000356709.4																			0				breast(2)|endometrium(3)|large_intestine(5)|lung(13)	23						c.(256-258)Aga>Gga		butyrophilin, subfamily 2, member A2							140.0	121.0	127.0					6																	26385404		2203	4300	6503	SO:0001583	missense	10385				negative regulation of activated T cell proliferation|negative regulation of cellular metabolic process|negative regulation of cytokine secretion	integral to membrane		g.chr6:26385404A>G	U90550	CCDS4606.1, CCDS4607.1, CCDS56401.1, CCDS56402.1, CCDS56403.1	6p22.1	2014-01-14			ENSG00000124508	ENSG00000124508		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Butyrophilins"""	1137	protein-coding gene	gene with protein product		613591				10354554, 9149941	Standard	NM_006995		Approved	BTF2, BT2.2, BTN2.2	uc003nhq.3	Q8WVV5	OTTHUMG00000014452	ENST00000356709.4:c.256A>G	6.37:g.26385404A>G	ENSP00000349143:p.Arg86Gly					BTN2A2_ENST00000482536.1_Intron|BTN2A2_ENST00000352867.2_Intron|BTN2A2_ENST00000469230.1_Missense_Mutation_p.R86G|BTN2A2_ENST00000432533.2_Missense_Mutation_p.R86G|BTN2A2_ENST00000416795.2_Missense_Mutation_p.R86G	p.R86G	NM_001197240.1|NM_006995.4	NP_001184169.1|NP_008926.2	Q8WVV5	BT2A2_HUMAN			3	367	+			86			Ig-like V-type.		A6NM84|B4DE97|B4DQ01|E9PH07|O00480	Missense_Mutation	SNP	ENST00000356709.4	37	c.256A>G	CCDS4606.1	.	.	.	.	.	.	.	.	.	.	a	11.24	1.579033	0.28180	.	.	ENSG00000124508	ENST00000469230;ENST00000356709;ENST00000493275;ENST00000432533;ENST00000416795;ENST00000494184	T;T;T;T;T;T	0.65732	-0.17;-0.17;-0.17;-0.17;-0.17;4.31	3.75	-0.0887	0.13672	Immunoglobulin subtype (1);Immunoglobulin V-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	1.047670	0.07591	N	0.921935	T	0.48768	0.1518	M	0.67517	2.055	0.09310	N	1	P;P;P	0.46395	0.802;0.877;0.578	B;P;P	0.48141	0.266;0.467;0.568	T	0.45190	-0.9278	10	0.66056	D	0.02	.	7.0653	0.25149	0.4704:0.398:0.1315:0.0	.	86;86;86	B4DQ01;Q8WVV5-2;Q8WVV5	.;.;BT2A2_HUMAN	G	86	ENSP00000417472:R86G;ENSP00000349143:R86G;ENSP00000418857:R86G;ENSP00000394241:R86G;ENSP00000399308:R86G;ENSP00000417511:R86G	ENSP00000349143:R86G	R	+	1	2	BTN2A2	26493383	0.000000	0.05858	0.000000	0.03702	0.262000	0.26303	-0.631000	0.05496	0.074000	0.16767	-0.685000	0.03747	AGA		0.537	BTN2A2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040117.1			27	50	0	0	0	1	0	27	50				
CNBD2	140894	broad.mit.edu	37	20	34611649	34611649	+	Silent	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr20:34611649C>T	ENST00000373973.3	+	11	1568	c.1395C>T	c.(1393-1395)gaC>gaT	p.D465D	CNBD2_ENST00000349339.1_Silent_p.D461D|CNBD2_ENST00000538900.1_Intron			Q96M20	CNBD2_HUMAN	cyclic nucleotide binding domain containing 2	465																	ACAATGATGACGAGATGATAA	0.403																																						ENST00000373973.3																			0											c.(1393-1395)gaC>gaT		cyclic nucleotide binding domain containing 2							123.0	119.0	120.0					20																	34611649		2203	4300	6503	SO:0001819	synonymous_variant	140894							g.chr20:34611649C>T	AL359828	CCDS13270.1, CCDS56189.1	20q11.23	2012-11-15	2012-11-15	2012-11-15	ENSG00000149646	ENSG00000149646			16145	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 152"", ""cyclic nucleotide (cNMP) binding domain containing 1"""	C20orf152, CNMPD1		11780052	Standard	NM_080834		Approved	dJ954P9.1	uc002xer.1	Q96M20	OTTHUMG00000032371	ENST00000373973.3:c.1395C>T	20.37:g.34611649C>T						CNBD2_ENST00000349339.1_Silent_p.D461D|CNBD2_ENST00000538900.1_Intron	p.D465D							11	1568	+								Q14C79|Q5JWY7|Q5T3S1|Q9BR36|Q9BWY5	Silent	SNP	ENST00000373973.3	37	c.1395C>T																																																																																					0.403	CNBD2-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000078960.2	NM_080834		31	64	0	0	0	1	0	31	64				
SLC2A9	56606	broad.mit.edu	37	4	10022970	10022970	+	Silent	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr4:10022970C>T	ENST00000264784.3	-	1	137	c.84G>A	c.(82-84)ggG>ggA	p.G28G	SLC2A9_ENST00000506583.1_Intron|SLC2A9_ENST00000309065.3_Intron	NM_020041.2	NP_064425.2	Q9NRM0	GTR9_HUMAN	solute carrier family 2 (facilitated glucose transporter), member 9	28					glucose transport (GO:0015758)|proton transport (GO:0015992)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	glucose transmembrane transporter activity (GO:0005355)|sugar:proton symporter activity (GO:0005351)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35					Losartan(DB00678)|Probenecid(DB01032)	CCCTCCCTGGCCCTGGAGGCC	0.587																																						ENST00000264784.3																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|lung(12)|ovary(3)|pancreas(1)|prostate(2)|skin(4)|stomach(1)	35						c.(82-84)ggG>ggA		solute carrier family 2 (facilitated glucose transporter), member 9							126.0	136.0	133.0					4																	10022970		2203	4300	6503	SO:0001819	synonymous_variant	56606				glucose transport|urate metabolic process	integral to membrane|plasma membrane	sugar:hydrogen symporter activity	g.chr4:10022970C>T	AF210317	CCDS3406.1, CCDS3407.1	4p16.1	2013-05-22			ENSG00000109667	ENSG00000109667		"""Solute carriers"""	13446	protein-coding gene	gene with protein product	"""urate voltage-driven efflux transporter 1"""	606142				10860667, 17710649	Standard	NM_020041		Approved	Glut9, GLUTX, URATv1	uc003gmc.3	Q9NRM0	OTTHUMG00000044263	ENST00000264784.3:c.84G>A	4.37:g.10022970C>T						SLC2A9_ENST00000506583.1_Intron|SLC2A9_ENST00000309065.3_Intron	p.G28G	NM_020041.2	NP_064425.2	Q9NRM0	GTR9_HUMAN			1	137	-			28					Q0VGC4|Q4W5D1|Q8WV30|Q96P00	Silent	SNP	ENST00000264784.3	37	c.84G>A	CCDS3407.1																																																																																				0.587	SLC2A9-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000207055.1			18	58	0	0	0	1	0	18	58				
MSTN	2660	broad.mit.edu	37	2	190927173	190927173	+	Silent	SNP	A	A	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:190927173A>C	ENST00000260950.4	-	1	282	c.150T>G	c.(148-150)tcT>tcG	p.S50S	C2orf88_ENST00000478197.1_Intron	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	myostatin	50					cellular response to dexamethasone stimulus (GO:0071549)|muscle organ development (GO:0007517)|negative regulation of muscle hypertrophy (GO:0014741)|negative regulation of skeletal muscle tissue growth (GO:0048632)|ovulation cycle process (GO:0022602)|positive regulation of transcription, DNA-templated (GO:0045893)|response to electrical stimulus (GO:0051602)|response to estrogen (GO:0043627)|response to ethanol (GO:0045471)|response to gravity (GO:0009629)|response to heat (GO:0009408)|response to muscle activity (GO:0014850)|response to testosterone (GO:0033574)|skeletal muscle atrophy (GO:0014732)|skeletal muscle tissue regeneration (GO:0043403)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular space (GO:0005615)	growth factor activity (GO:0008083)|heparin binding (GO:0008201)|identical protein binding (GO:0042802)|receptor binding (GO:0005102)			endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12			OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)			CTATTCTTGAAGATTTAGTGT	0.378																																						ENST00000260950.4																			0				endometrium(1)|kidney(1)|large_intestine(1)|lung(8)|skin(1)	12						c.(148-150)tcT>tcG		myostatin							184.0	180.0	182.0					2																	190927173		2203	4300	6503	SO:0001819	synonymous_variant	2660				muscle organ development|positive regulation of transcription, DNA-dependent	extracellular space	cytokine activity|growth factor activity	g.chr2:190927173A>C	AF019627	CCDS2303.1	2q32.1	2014-09-17	2007-06-21	2007-06-21	ENSG00000138379	ENSG00000138379			4223	protein-coding gene	gene with protein product		601788	"""growth differentiation factor 8"""	GDF8		9288100, 10610713, 17003236	Standard	NM_005259		Approved		uc002urp.3	O14793	OTTHUMG00000132663	ENST00000260950.4:c.150T>G	2.37:g.190927173A>C						C2orf88_ENST00000478197.1_Intron	p.S50S	NM_005259.2	NP_005250.1	O14793	GDF8_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.000742)|Epithelial(96;0.0121)|all cancers(119;0.0395)		1	282	-			50					A1C2J7|A1C2K0|Q6B0H2	Silent	SNP	ENST00000260950.4	37	c.150T>G	CCDS2303.1																																																																																				0.378	MSTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255917.2	NM_005259		14	103	0	0	0	1	0	14	103				
MDM1	56890	broad.mit.edu	37	12	68720540	68720540	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr12:68720540G>T	ENST00000303145.7	-	3	481	c.395C>A	c.(394-396)tCa>tAa	p.S132*	MDM1_ENST00000411698.2_Nonsense_Mutation_p.S132*|MDM1_ENST00000393543.3_3'UTR|MDM1_ENST00000430606.2_Nonsense_Mutation_p.S132*|MDM1_ENST00000545724.1_5'UTR|MDM1_ENST00000540418.1_Intron	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Mdm1 nuclear protein homolog (mouse)	132					retina development in camera-type eye (GO:0060041)	nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33			Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)		TTCCACATCTGAAGCCCCTTC	0.408																																						ENST00000303145.7																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(4)|lung(10)|ovary(3)|pancreas(1)|prostate(2)|skin(7)	33						c.(394-396)tCa>tAa		Mdm1 nuclear protein homolog (mouse)							76.0	65.0	68.0					12																	68720540		2203	4300	6503	SO:0001587	stop_gained	56890					nucleus		g.chr12:68720540G>T	AF007130	CCDS8983.1, CCDS44938.1, CCDS55841.1, CCDS55842.1	12q15	2008-04-14	2008-04-14			ENSG00000111554			29917	protein-coding gene	gene with protein product		613813	"""Mdm4, transformed 3T3 cell double minute 1, p53 binding protein (mouse)"""			8619474, 9110174	Standard	NM_017440		Approved		uc001stz.2	Q8TC05		ENST00000303145.7:c.395C>A	12.37:g.68720540G>T	ENSP00000302537:p.Ser132*					MDM1_ENST00000545724.1_5'UTR|MDM1_ENST00000411698.2_Nonsense_Mutation_p.S132*|MDM1_ENST00000430606.2_Nonsense_Mutation_p.S132*|MDM1_ENST00000540418.1_Intron|MDM1_ENST00000393543.3_3'UTR	p.S132*	NM_017440.4	NP_059136.2	Q8TC05	MDM1_HUMAN	Lung(24;0.000131)|LUAD - Lung adenocarcinoma(15;0.00107)|STAD - Stomach adenocarcinoma(21;0.018)	GBM - Glioblastoma multiforme(7;0.000174)	3	481	-			132					B4DM65|E7EPQ3|O43406|Q8WTV9|Q9NR04	Nonsense_Mutation	SNP	ENST00000303145.7	37	c.395C>A	CCDS8983.1	.	.	.	.	.	.	.	.	.	.	G	16.60	3.168979	0.57584	.	.	ENSG00000111554	ENST00000303145;ENST00000411698;ENST00000541686;ENST00000430606	.	.	.	5.25	1.92	0.25849	.	0.947686	0.08762	N	0.897618	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	-1.096	3.3502	0.07150	0.3186:0.2082:0.4732:0.0	.	.	.	.	X	132;132;127;132	.	.	S	-	2	0	MDM1	67006807	0.000000	0.05858	0.371000	0.25978	0.620000	0.37586	0.553000	0.23391	1.184000	0.42957	0.561000	0.74099	TCA		0.408	MDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000402402.1	NM_020128		29	22	1	0	3.73148e-12	1	4.18853e-12	29	22				
FAM83G	644815	broad.mit.edu	37	17	18881947	18881947	+	Silent	SNP	G	G	A	rs371247127		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:18881947G>A	ENST00000388995.6	-	5	1255	c.1032C>T	c.(1030-1032)ctC>ctT	p.L344L	FAM83G_ENST00000585154.2_Silent_p.L344L|SLC5A10_ENST00000395643.2_Intron|FAM83G_ENST00000345041.4_Silent_p.L344L|SLC5A10_ENST00000395647.2_Intron|SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000417251.2_Intron			A6ND36	FA83G_HUMAN	family with sequence similarity 83, member G	344					BMP signaling pathway (GO:0030509)	cytosol (GO:0005829)|nucleus (GO:0005634)				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						TGGGGTTGACGAGCTTCTTGG	0.612																																						ENST00000388995.6																			0				central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(3)|stomach(1)	22						c.(1030-1032)ctC>ctT		family with sequence similarity 83, member G		G	,,	1,4057		0,1,2028	85.0	95.0	92.0		1032,,	-10.0	0.3	17		92	1,8341		0,1,4170	no	coding-synonymous,intron,intron	SLC5A10,FAM83G	NM_001039999.2,NM_001042450.1,NM_152351.3	,,	0,2,6198	AA,AG,GG		0.012,0.0246,0.0161	,,	344/824,,	18881947	2,12398	2029	4171	6200	SO:0001819	synonymous_variant	644815							g.chr17:18881947G>A	AK123558	CCDS42276.1	17p11.2	2014-05-01	2006-03-22		ENSG00000188522	ENSG00000188522			32554	protein-coding gene	gene with protein product	"""protein associated with SMAD1"""	615886				24554596	Standard	NM_001039999		Approved	FLJ41564, PAWS1	uc002guw.3	A6ND36	OTTHUMG00000059411	ENST00000388995.6:c.1032C>T	17.37:g.18881947G>A						SLC5A10_ENST00000317977.6_Intron|SLC5A10_ENST00000395643.2_Intron|FAM83G_ENST00000585154.2_Silent_p.L344L|SLC5A10_ENST00000395645.3_Intron|SLC5A10_ENST00000395647.2_Intron|FAM83G_ENST00000345041.4_Silent_p.L344L|SLC5A10_ENST00000395642.1_Intron|SLC5A10_ENST00000417251.2_Intron	p.L344L			A6ND36	FA83G_HUMAN			5	1255	-			344					Q3KQZ4|Q6ZW60	Silent	SNP	ENST00000388995.6	37	c.1032C>T	CCDS42276.1																																																																																				0.612	FAM83G-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253108.4			5	175	0	0	0	1	0	5	175				
TRIM4	89122	broad.mit.edu	37	7	99490134	99490134	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:99490134C>G	ENST00000355947.2	-	7	1284	c.1155G>C	c.(1153-1155)gaG>gaC	p.E385D	TRIM4_ENST00000349062.2_Missense_Mutation_p.E359D	NM_033017.3	NP_148977.2	Q9C037	TRIM4_HUMAN	tripartite motif containing 4	385	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein trimerization (GO:0070206)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)	zinc ion binding (GO:0008270)			breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	17	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)				TATCTCTACTCTCAACTTCCC	0.478																																						ENST00000355947.2																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(3)|lung(8)|ovary(1)|skin(1)	17						c.(1153-1155)gaG>gaC		tripartite motif containing 4							144.0	145.0	145.0					7																	99490134		2203	4300	6503	SO:0001583	missense	89122				protein trimerization	cytoplasm|plasma membrane	zinc ion binding	g.chr7:99490134C>G	AF220023	CCDS5678.1, CCDS5679.1	7q22-q31.1	2013-01-09	2011-01-25		ENSG00000146833	ENSG00000146833		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16275	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM4"", ""tripartite motif protein 4"""		"""tripartite motif-containing 4"""			11331580	Standard	NM_033017		Approved	RNF87	uc003use.3	Q9C037	OTTHUMG00000156648	ENST00000355947.2:c.1155G>C	7.37:g.99490134C>G	ENSP00000348216:p.Glu385Asp					TRIM4_ENST00000349062.2_Missense_Mutation_p.E359D	p.E385D	NM_033017.3	NP_148977.2	Q9C037	TRIM4_HUMAN			7	1284	-	Esophageal squamous(72;0.0166)|Lung NSC(181;0.0211)|all_lung(186;0.0323)	Ovarian(593;0.238)	385			B30.2/SPRY.		A4D298|Q75MK1|Q96F06|Q9C036	Missense_Mutation	SNP	ENST00000355947.2	37	c.1155G>C	CCDS5679.1	.	.	.	.	.	.	.	.	.	.	C	12.96	2.094542	0.36952	.	.	ENSG00000146833	ENST00000355947;ENST00000349062;ENST00000542799	T;T	0.70986	-0.53;-0.53	2.64	2.64	0.31445	Concanavalin A-like lectin/glucanase (1);B30.2/SPRY domain (1);SPla/RYanodine receptor SPRY (1);	.	.	.	.	T	0.71169	0.3308	L	0.40543	1.245	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.81914	0.992;0.995	T	0.67593	-0.5631	9	0.02654	T	1	.	11.4573	0.50189	0.0:1.0:0.0:0.0	.	359;385	Q9C037-2;Q9C037	.;TRIM4_HUMAN	D	385;359;215	ENSP00000348216:E385D;ENSP00000275736:E359D	ENSP00000275736:E359D	E	-	3	2	TRIM4	99328070	0.974000	0.33945	0.851000	0.33527	0.448000	0.32197	0.955000	0.29188	1.806000	0.52798	0.655000	0.94253	GAG		0.478	TRIM4-004	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000345050.1	NM_033017		71	129	0	0	0	1	0	71	129				
CHMP6	79643	broad.mit.edu	37	17	78972931	78972931	+	Missense_Mutation	SNP	C	C	T	rs374101426		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:78972931C>T	ENST00000325167.5	+	8	662	c.584C>T	c.(583-585)gCg>gTg	p.A195V	CTD-2561B21.7_ENST00000576215.1_RNA|CTD-2561B21.7_ENST00000577061.2_RNA	NM_024591.4	NP_078867.2	Q96FZ7	CHMP6_HUMAN	charged multivesicular body protein 6	195					endosomal transport (GO:0016197)|membrane organization (GO:0061024)|protein transport (GO:0015031)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	protein N-terminus binding (GO:0047485)	p.A195V(1)		lung(2)|ovary(1)	3	all_neural(118;0.101)		BRCA - Breast invasive adenocarcinoma(99;0.0175)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)			CCCAGGCAGGCGGAGCTGGTG	0.617																																						ENST00000325167.5																			1	Substitution - Missense(1)	p.A195V(1)	ovary(1)	lung(2)|ovary(1)	3						c.(583-585)gCg>gTg		charged multivesicular body protein 6		C	VAL/ALA	0,4406		0,0,2203	120.0	101.0	108.0		584	1.6	0.3	17		108	1,8599	1.2+/-3.3	0,1,4299	no	missense	CHMP6	NM_024591.4	64	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	195/202	78972931	1,13005	2203	4300	6503	SO:0001583	missense	79643				cellular membrane organization|endosome transport|protein transport	cytosol|endomembrane system|late endosome membrane	protein N-terminus binding	g.chr17:78972931C>T	BC010108	CCDS11774.1	17q25.3	2014-08-13	2011-09-21		ENSG00000176108	ENSG00000176108		"""Charged multivesicular body proteins"""	25675	protein-coding gene	gene with protein product		610901	"""chromatin modifying protein 6"""			11559748, 15511219	Standard	NM_024591		Approved	FLJ11749, VPS20	uc002jyw.4	Q96FZ7	OTTHUMG00000177645	ENST00000325167.5:c.584C>T	17.37:g.78972931C>T	ENSP00000317468:p.Ala195Val						p.A195V	NM_024591.4	NP_078867.2	Q96FZ7	CHMP6_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0175)|OV - Ovarian serous cystadenocarcinoma(97;0.0524)		8	662	+	all_neural(118;0.101)		195					A8K7U0|Q53FU4|Q9HAE8	Missense_Mutation	SNP	ENST00000325167.5	37	c.584C>T	CCDS11774.1	.	.	.	.	.	.	.	.	.	.	C	11.78	1.740451	0.30865	0.0	1.16E-4	ENSG00000176108	ENST00000325167	T	0.59364	0.27	4.77	1.58	0.23477	.	0.428871	0.22920	N	0.054027	T	0.38480	0.1042	N	0.22421	0.69	0.25115	N	0.99068	B	0.20052	0.041	B	0.11329	0.006	T	0.21965	-1.0230	10	0.45353	T	0.12	-28.1219	7.7351	0.28810	0.0:0.7203:0.0:0.2797	.	195	Q96FZ7	CHMP6_HUMAN	V	195	ENSP00000317468:A195V	ENSP00000317468:A195V	A	+	2	0	CHMP6	76587526	0.987000	0.35691	0.285000	0.24819	0.530000	0.34684	1.138000	0.31491	0.067000	0.16545	0.645000	0.84053	GCG		0.617	CHMP6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000438215.1	NM_024591		26	71	0	0	0	1	0	26	71				
TAF3	83860	broad.mit.edu	37	10	8006040	8006040	+	Silent	SNP	G	G	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr10:8006040G>T	ENST00000344293.5	+	3	773	c.567G>T	c.(565-567)ctG>ctT	p.L189L		NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN	TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa	189					maintenance of protein location in nucleus (GO:0051457)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor TFIID complex (GO:0005669)	zinc ion binding (GO:0008270)			NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						CTGAAGAACTGCCAGCCATGA	0.448																																						ENST00000344293.5																			0				NS(2)|breast(4)|endometrium(2)|kidney(1)|large_intestine(6)|lung(16)|ovary(3)|prostate(4)|skin(2)	40						c.(565-567)ctG>ctT		TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140kDa							66.0	66.0	66.0					10																	8006040		1916	4138	6054	SO:0001819	synonymous_variant	83860				maintenance of protein location in nucleus|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	transcription factor TFIID complex	protein binding|zinc ion binding	g.chr10:8006040G>T	AJ292190	CCDS41487.1	10p15.1	2013-01-28	2002-08-29		ENSG00000165632	ENSG00000165632		"""Zinc fingers, PHD-type"""	17303	protein-coding gene	gene with protein product		606576	"""TAF3 RNA polymerase II, TATA box binding protein (TBP)-associated factor, 140 kD"""			11438666, 18549481	Standard	NM_031923		Approved	TAF140, TAFII140	uc010qbd.3	Q5VWG9	OTTHUMG00000017643	ENST00000344293.5:c.567G>T	10.37:g.8006040G>T							p.L189L	NM_031923.3	NP_114129.1	Q5VWG9	TAF3_HUMAN			3	773	+			189					Q05DA0|Q6GMS5|Q6P6B5|Q86VY6|Q9BQS9|Q9UFI8	Silent	SNP	ENST00000344293.5	37	c.567G>T	CCDS41487.1																																																																																				0.448	TAF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000046725.1	NM_031923		19	20	1	0	4.26978e-12	1	4.78402e-12	19	20				
MICAL1	64780	broad.mit.edu	37	6	109771207	109771207	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr6:109771207C>T	ENST00000358807.3	-	9	1584	c.1273G>A	c.(1273-1275)Gag>Aag	p.E425K	MICAL1_ENST00000483856.1_5'Flank|MICAL1_ENST00000368952.4_Missense_Mutation_p.E444K|MICAL1_ENST00000358577.3_Missense_Mutation_p.E339K	NM_022765.3	NP_073602.3	Q8TDZ2	MICA1_HUMAN	microtubule associated monooxygenase, calponin and LIM domain containing 1	425	Monooxygenase domain. {ECO:0000250}.				actin filament depolymerization (GO:0030042)|cytoskeleton organization (GO:0007010)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of protein phosphorylation (GO:0001933)|oxidation-reduction process (GO:0055114)|signal transduction (GO:0007165)|sulfur oxidation (GO:0019417)	cytoplasm (GO:0005737)|intermediate filament (GO:0005882)	actin binding (GO:0003779)|FAD binding (GO:0071949)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, NAD(P)H as one donor, and incorporation of one atom of oxygen (GO:0016709)|SH3 domain binding (GO:0017124)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)		TCAGCGCCCTCTGCCCACCGC	0.612																																						ENST00000368952.4																			0				NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(6)|liver(1)|lung(7)|ovary(3)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	40						c.(1330-1332)Gag>Aag		microtubule associated monooxygenase, calponin and LIM domain containing 1							206.0	200.0	202.0					6																	109771207		2203	4300	6503	SO:0001583	missense	64780				cytoskeleton organization|signal transduction	cytoplasm|intermediate filament	SH3 domain binding|zinc ion binding	g.chr6:109771207C>T	AB048948	CCDS5076.1, CCDS55047.1	6q21	2013-03-26	2013-03-26	2005-02-16	ENSG00000135596	ENSG00000135596			20619	protein-coding gene	gene with protein product		607129	"""NEDD9 interacting protein with calponin homology and LIM domains"""	NICAL		11827972	Standard	NM_022765		Approved	MICAL, FLJ11937, DKFZp434B1517, FLJ21739	uc003ptk.3	Q8TDZ2	OTTHUMG00000015350	ENST00000358807.3:c.1273G>A	6.37:g.109771207C>T	ENSP00000351664:p.Glu425Lys					MICAL1_ENST00000358807.3_Missense_Mutation_p.E425K|MICAL1_ENST00000358577.3_Missense_Mutation_p.E339K	p.E444K			Q8TDZ2	MICA1_HUMAN		Epithelial(106;0.0142)|all cancers(137;0.0197)|OV - Ovarian serous cystadenocarcinoma(136;0.0233)|BRCA - Breast invasive adenocarcinoma(108;0.0574)	9	1620	-		all_cancers(87;0.000189)|Acute lymphoblastic leukemia(125;3.07e-08)|all_hematologic(75;3.33e-06)|all_epithelial(87;0.00686)|Lung SC(18;0.0743)|Colorectal(196;0.101)|all_lung(197;0.149)	425					B7Z3R5|E1P5F0|Q7Z633|Q8IVS9|Q96G47|Q9H6X6|Q9H7I0|Q9HAA1|Q9UFF7	Missense_Mutation	SNP	ENST00000358807.3	37	c.1330G>A	CCDS5076.1	.	.	.	.	.	.	.	.	.	.	C	6.583	0.475885	0.12521	.	.	ENSG00000135596	ENST00000358807;ENST00000368952;ENST00000358577	T;T;T	0.20463	2.07;2.07;2.07	4.57	2.77	0.32553	Calponin homology domain (1);	0.377447	0.26738	N	0.022749	T	0.02649	0.0080	N	0.20685	0.6	0.29871	N	0.826787	B;B;B	0.11235	0.003;0.004;0.001	B;B;B	0.14578	0.003;0.011;0.002	T	0.42832	-0.9428	10	0.06891	T	0.86	.	4.2448	0.10667	0.0:0.602:0.193:0.2049	.	444;339;425	B7Z3R5;Q8TDZ2-2;Q8TDZ2	.;.;MICA1_HUMAN	K	425;444;339	ENSP00000351664:E425K;ENSP00000357948:E444K;ENSP00000351385:E339K	ENSP00000351385:E339K	E	-	1	0	MICAL1	109877900	0.000000	0.05858	0.994000	0.49952	0.531000	0.34715	0.062000	0.14389	1.273000	0.44346	0.650000	0.86243	GAG		0.612	MICAL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041759.2	NM_022765		109	281	0	0	0	1	0	109	281				
SEC14L3	266629	broad.mit.edu	37	22	30857392	30857392	+	Missense_Mutation	SNP	C	C	T	rs560939192		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr22:30857392C>T	ENST00000215812.4	-	11	1076	c.986G>A	c.(985-987)cGg>cAg	p.R329Q	SEC14L3_ENST00000415957.2_Missense_Mutation_p.R270Q|SEC14L3_ENST00000539629.1_Missense_Mutation_p.R270Q|SEC14L3_ENST00000403066.1_Missense_Mutation_p.R270Q|SEC14L3_ENST00000401751.1_Missense_Mutation_p.R270Q|SEC14L3_ENST00000540910.1_Missense_Mutation_p.R252Q|SEC14L3_ENST00000402286.1_Missense_Mutation_p.R252Q	NM_174975.4	NP_777635.1	Q9UDX4	S14L3_HUMAN	SEC14-like 3 (S. cerevisiae)	329	GOLD. {ECO:0000255|PROSITE- ProRule:PRU00096}.					extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)	lipid binding (GO:0008289)|transporter activity (GO:0005215)			NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19					Vitamin E(DB00163)	CTCCCCTGCCCGCTGTCGCTC	0.607																																					Esophageal Squamous(108;290 1516 3584 23771 37333)	ENST00000403066.1																			0				NS(1)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(4)|lung(3)|ovary(3)|pancreas(1)|skin(2)|urinary_tract(1)	19						c.(808-810)cGg>cAg		SEC14-like 3 (S. cerevisiae)	Vitamin E(DB00163)						70.0	64.0	66.0					22																	30857392		2203	4300	6503	SO:0001583	missense	266629					integral to membrane|intracellular	lipid binding|transporter activity	g.chr22:30857392C>T	AY158086	CCDS13877.1, CCDS58800.1, CCDS58801.1	22q12.2	2013-09-23			ENSG00000100012	ENSG00000100012			18655	protein-coding gene	gene with protein product		612824					Standard	NM_174975		Approved	TAP2	uc003ahy.3	Q9UDX4	OTTHUMG00000151259	ENST00000215812.4:c.986G>A	22.37:g.30857392C>T	ENSP00000215812:p.Arg329Gln					SEC14L3_ENST00000415957.2_Missense_Mutation_p.R270Q|SEC14L3_ENST00000401751.1_Missense_Mutation_p.R270Q|SEC14L3_ENST00000215812.4_Missense_Mutation_p.R329Q|SEC14L3_ENST00000540910.1_Missense_Mutation_p.R252Q|SEC14L3_ENST00000539629.1_Missense_Mutation_p.R270Q|SEC14L3_ENST00000402286.1_Missense_Mutation_p.R252Q	p.R270Q			Q9UDX4	S14L3_HUMAN			12	1092	-			329					E7EN74|E9PE57|Q495V8|Q495W0|Q495W1	Missense_Mutation	SNP	ENST00000215812.4	37	c.809G>A	CCDS13877.1	.	.	.	.	.	.	.	.	.	.	C	17.04	3.287418	0.59976	.	.	ENSG00000100012	ENST00000403066;ENST00000415957;ENST00000215812;ENST00000402286;ENST00000401751;ENST00000539629;ENST00000540910	T;T;T;T;T;T;T	0.42513	0.97;0.97;0.97;0.97;0.97;0.97;0.97	5.67	3.56	0.40772	GOLD (2);	0.190215	0.45606	D	0.000349	T	0.31451	0.0797	L	0.47716	1.5	0.80722	D	1	B;B	0.22541	0.071;0.017	B;B	0.10450	0.005;0.002	T	0.07673	-1.0760	10	0.30078	T	0.28	-5.5771	7.008	0.24848	0.0:0.5936:0.0:0.4064	.	252;329	E9PE57;Q9UDX4	.;S14L3_HUMAN	Q	270;270;329;252;270;270;252	ENSP00000385941:R270Q;ENSP00000401864:R270Q;ENSP00000215812:R329Q;ENSP00000385004:R252Q;ENSP00000383896:R270Q;ENSP00000444691:R270Q;ENSP00000439752:R252Q	ENSP00000215812:R329Q	R	-	2	0	SEC14L3	29187392	0.892000	0.30473	0.834000	0.33040	0.962000	0.63368	1.705000	0.37867	0.645000	0.30675	0.655000	0.94253	CGG		0.607	SEC14L3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321950.4	NM_174975		22	48	0	0	0	1	0	22	48				
SCN3A	6328	broad.mit.edu	37	2	166003408	166003408	+	Silent	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:166003408C>T	ENST00000360093.3	-	12	2003	c.1512G>A	c.(1510-1512)aaG>aaA	p.K504K	RN7SL455P_ENST00000580629.1_RNA|SCN3A_ENST00000283254.7_Silent_p.K504K|SCN3A_ENST00000409101.3_Silent_p.K504K	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN	sodium channel, voltage-gated, type III, alpha subunit	504					membrane depolarization during action potential (GO:0086010)|neuronal action potential (GO:0019228)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|voltage-gated sodium channel complex (GO:0001518)	voltage-gated sodium channel activity (GO:0005248)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120					Lacosamide(DB06218)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GTCTTCTTTTCTTCCTTCGGT	0.438																																						ENST00000360093.3																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(19)|liver(2)|lung(47)|ovary(6)|prostate(3)|skin(10)|upper_aerodigestive_tract(4)|urinary_tract(3)	120						c.(1510-1512)aaG>aaA		sodium channel, voltage-gated, type III, alpha subunit	Lamotrigine(DB00555)						212.0	209.0	210.0					2																	166003408		2203	4300	6503	SO:0001819	synonymous_variant	6328					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166003408C>T	AF035685	CCDS33312.1, CCDS46440.1	2q24	2012-02-26	2007-01-23		ENSG00000153253	ENSG00000153253		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10590	protein-coding gene	gene with protein product		182391	"""sodium channel, voltage-gated, type III, alpha polypeptide"""			9589372, 16382098	Standard	NM_001081676		Approved	Nav1.3	uc002ucx.3	Q9NY46	OTTHUMG00000044171	ENST00000360093.3:c.1512G>A	2.37:g.166003408C>T						SCN3A_ENST00000409101.3_Silent_p.K504K|SCN3A_ENST00000283254.7_Silent_p.K504K	p.K504K	NM_001081677.1	NP_001075146.1	Q9NY46	SCN3A_HUMAN			12	2003	-			504					Q16142|Q53SX0|Q9BZB3|Q9C006|Q9NYK2|Q9P2J1|Q9UPD1|Q9Y6P4	Silent	SNP	ENST00000360093.3	37	c.1512G>A																																																																																					0.438	SCN3A-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_006922		39	110	0	0	0	1	0	39	110				
ZBTB18	10472	broad.mit.edu	37	1	244217659	244217659	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:244217659C>T	ENST00000358704.4	+	2	732	c.583C>T	c.(583-585)Cga>Tga	p.R195*		NM_001278196.1|NM_006352.4|NM_205768.2	NP_001265125.1|NP_006343.2|NP_991331.1	Q99592	ZBT18_HUMAN	zinc finger and BTB domain containing 18	186				KLNILPSKRDLAAEPGNMWMRLPSDSAGIPQAGGEAEPHAT AAGKTVASPCSSTESLSQRSVTSVRDSADVDCVLDLSVKSS LSGVENLNSSYFSSQ -> IEHPAQQKGLGGRAWEHVDAIA LRLSRHPPGWRRGRATRHSSWKNSSQPLQLNRVFVPE (in Ref. 1; AAA81368). {ECO:0000305}.	cerebellum development (GO:0021549)|cerebral cortex development (GO:0021987)|hippocampus development (GO:0021766)|homeostasis of number of cells (GO:0048872)|in utero embryonic development (GO:0001701)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron development (GO:0048666)|regulation of cell division (GO:0051302)|skeletal muscle tissue development (GO:0007519)|transcription, DNA-templated (GO:0006351)	intercellular bridge (GO:0045171)|microtubule cytoskeleton (GO:0015630)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)	p.R186*(2)									CATGTGGATGCGATTGCCCTC	0.572																																						ENST00000358704.4																			2	Substitution - Nonsense(2)	p.R186*(2)	ovary(1)|endometrium(1)								c.(583-585)Cga>Tga		zinc finger and BTB domain containing 18							51.0	57.0	55.0					1																	244217659		2203	4300	6503	SO:0001587	stop_gained	10472							g.chr1:244217659C>T	U38896	CCDS1622.1	1q44	2013-09-19	2013-01-09	2013-01-09	ENSG00000179456	ENSG00000179456		"""-"", ""BTB/POZ domain containing"", ""Zinc fingers, C2H2-type"""	13030	protein-coding gene	gene with protein product		608433	"""zinc finger protein 238"""	ZNF238		9568537, 9013868	Standard	NM_205768		Approved	C2H2-171, TAZ-1, RP58	uc031psv.1	Q99592	OTTHUMG00000040013	ENST00000358704.4:c.583C>T	1.37:g.244217659C>T	ENSP00000351539:p.Arg195*						p.R195*	NM_001278196.1|NM_006352.4|NM_205768.2	NP_001265125.1|NP_006343.2|NP_991331.1					2	732	+								A8K5U3|Q13397|Q5VU40|Q8N463|Q9UD99	Nonsense_Mutation	SNP	ENST00000358704.4	37	c.583C>T	CCDS1622.1	.	.	.	.	.	.	.	.	.	.	C	36	5.620197	0.96660	.	.	ENSG00000179456	ENST00000366538;ENST00000358704	.	.	.	5.28	4.28	0.50868	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.15066	T	0.55	.	12.685	0.56942	0.2894:0.7106:0.0:0.0	.	.	.	.	X	195	.	ENSP00000351539:R195X	R	+	1	2	ZNF238	242284282	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	1.816000	0.38992	2.475000	0.83589	0.650000	0.86243	CGA		0.572	ZBTB18-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096513.2	NM_205768		16	66	0	0	0	1	0	16	66				
OR10H5	284433	broad.mit.edu	37	19	15905096	15905096	+	Missense_Mutation	SNP	C	C	T	rs142693914		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:15905096C>T	ENST00000308940.8	+	1	336	c.238C>T	c.(238-240)Cgc>Tgc	p.R80C		NM_001004466.1	NP_001004466.1	Q8NGA6	O10H5_HUMAN	olfactory receptor, family 10, subfamily H, member 5	80						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						CATCATCCCGCGCATGCTGGC	0.617													.|||	1	0.000199681	0.0	0.0	5008	,	,		21792	0.0		0.001	False		,,,				2504	0.0					ENST00000308940.8																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(3)|liver(1)|lung(9)|ovary(1)	20						c.(238-240)Cgc>Tgc		olfactory receptor, family 10, subfamily H, member 5		C	CYS/ARG	0,4406		0,0,2203	122.0	100.0	108.0		238	2.3	0.8	19	dbSNP_134	108	1,8599		0,1,4299	no	missense	OR10H5	NM_001004466.1	180	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	probably-damaging	80/316	15905096	1,13005	2203	4300	6503	SO:0001583	missense	284433				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr19:15905096C>T	AC011537	CCDS32940.1	19p13.12	2013-09-24			ENSG00000172519	ENSG00000172519		"""GPCR / Class A : Olfactory receptors"""	15389	protein-coding gene	gene with protein product							Standard	NM_001004466		Approved		uc010xos.2	Q8NGA6	OTTHUMG00000182284	ENST00000308940.8:c.238C>T	19.37:g.15905096C>T	ENSP00000310704:p.Arg80Cys						p.R80C	NM_001004466.1	NP_001004466.1	Q8NGA6	O10H5_HUMAN			1	336	+			80					Q6IFJ0|Q96R60	Missense_Mutation	SNP	ENST00000308940.8	37	c.238C>T	CCDS32940.1	.	.	.	.	.	.	.	.	.	.	.	11.79	1.744090	0.30865	0.0	1.16E-4	ENSG00000172519	ENST00000308940	T	0.01685	4.69	3.47	2.3	0.28687	GPCR, rhodopsin-like superfamily (1);	0.158984	0.29266	N	0.012650	T	0.03695	0.0105	M	0.87328	2.875	0.09310	N	0.999999	B	0.25667	0.131	B	0.21151	0.033	T	0.17776	-1.0358	10	0.72032	D	0.01	.	7.7827	0.29074	0.4047:0.5953:0.0:0.0	.	80	Q8NGA6	O10H5_HUMAN	C	80	ENSP00000310704:R80C	ENSP00000310704:R80C	R	+	1	0	OR10H5	15766096	0.000000	0.05858	0.807000	0.32361	0.898000	0.52572	1.227000	0.32576	1.647000	0.50633	0.585000	0.79938	CGC		0.617	OR10H5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460363.1			33	56	0	0	0	1	0	33	56				
ADAMTS8	11095	broad.mit.edu	37	11	130288963	130288963	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:130288963G>C	ENST00000257359.6	-	2	1651	c.945C>G	c.(943-945)atC>atG	p.I315M		NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 8	315	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.				negative regulation of cell proliferation (GO:0008285)|phosphate ion transmembrane transport (GO:0035435)	proteinaceous extracellular matrix (GO:0005578)	heparin binding (GO:0008201)|integrin binding (GO:0005178)|low-affinity phosphate transmembrane transporter activity (GO:0009673)|metalloendopeptidase activity (GO:0004222)|metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)		TGGTGAGCAGGATGGCCGTGT	0.627																																						ENST00000257359.6																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(2)|prostate(1)|skin(1)	10						c.(943-945)atC>atG		ADAM metallopeptidase with thrombospondin type 1 motif, 8							85.0	96.0	92.0					11																	130288963		2086	4215	6301	SO:0001583	missense	11095				negative regulation of cell proliferation|proteolysis	proteinaceous extracellular matrix	heparin binding|integrin binding|low affinity phosphate transmembrane transporter activity|metalloendopeptidase activity|zinc ion binding	g.chr11:130288963G>C	AF060153	CCDS41732.1	11q25	2008-07-18	2005-08-19		ENSG00000134917	ENSG00000134917		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	224	protein-coding gene	gene with protein product		605175	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 8"""			10438512	Standard	NM_007037		Approved	METH2, FLJ41712, ADAM-TS8	uc001qgg.4	Q9UP79	OTTHUMG00000165656	ENST00000257359.6:c.945C>G	11.37:g.130288963G>C	ENSP00000257359:p.Ile315Met						p.I315M	NM_007037.4	NP_008968.4	Q9UP79	ATS8_HUMAN		OV - Ovarian serous cystadenocarcinoma(99;0.039)|Lung(977;0.213)	2	1651	-	all_hematologic(175;0.0429)	Lung NSC(97;0.000601)|Breast(109;0.000962)|all_lung(97;0.00125)|Medulloblastoma(222;0.0425)|all_neural(223;0.0837)	315			Peptidase M12B.		Q9NZS0	Missense_Mutation	SNP	ENST00000257359.6	37	c.945C>G	CCDS41732.1	.	.	.	.	.	.	.	.	.	.	G	19.60	3.857523	0.71834	.	.	ENSG00000134917	ENST00000257359;ENST00000414575	D	0.87029	-2.2	5.62	1.69	0.24217	Metallopeptidase, catalytic domain (1);Peptidase M12B, ADAM/reprolysin (2);	0.176598	0.53938	D	0.000049	D	0.89989	0.6875	M	0.66939	2.045	0.40355	D	0.979172	D	0.54047	0.964	P	0.62435	0.902	D	0.88831	0.3305	10	0.72032	D	0.01	.	8.88	0.35370	0.1753:0.1204:0.7043:0.0	.	315	Q9UP79	ATS8_HUMAN	M	315;344	ENSP00000257359:I315M	ENSP00000257359:I315M	I	-	3	3	ADAMTS8	129794173	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	1.823000	0.39062	0.474000	0.27392	0.655000	0.94253	ATC		0.627	ADAMTS8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385636.1	NM_007037		44	134	0	0	0	1	0	44	134				
GTF3C4	9329	broad.mit.edu	37	9	135553528	135553528	+	Silent	SNP	C	C	T	rs372437145		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr9:135553528C>T	ENST00000372146.4	+	2	1086	c.522C>T	c.(520-522)tgC>tgT	p.C174C	GTF3C4_ENST00000483873.2_Intron	NM_012204.2	NP_036336.2	Q9UKN8	TF3C4_HUMAN	general transcription factor IIIC, polypeptide 4, 90kDa	174					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|histone acetylation (GO:0016573)|positive regulation of catalytic activity (GO:0043085)|transcription from RNA polymerase III promoter (GO:0006383)|transcription initiation from RNA polymerase III promoter (GO:0006384)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)|enzyme activator activity (GO:0008047)|histone acetyltransferase activity (GO:0004402)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20				OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)		CCATGGGTTGCGATGCTAATG	0.532																																					Pancreas(142;417 1875 11086 31973 47667)	ENST00000372146.4																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|skin(1)	20						c.(520-522)tgC>tgT		general transcription factor IIIC, polypeptide 4, 90kDa		C		0,4406		0,0,2203	114.0	111.0	112.0		522	-2.7	1.0	9		112	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	GTF3C4	NM_012204.2		0,1,6502	TT,TC,CC		0.0116,0.0,0.0077		174/823	135553528	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	9329				transcription initiation from RNA polymerase III promoter	transcription factor TFIIIC complex	DNA binding|enzyme activator activity|histone acetyltransferase activity|protein binding	g.chr9:135553528C>T	AF142328	CCDS6953.1	9q34.3	2011-07-01	2002-08-29		ENSG00000125484	ENSG00000125484		"""Chromatin-modifying enzymes / K-acetyltransferases"", ""General transcription factors"""	4667	protein-coding gene	gene with protein product		604892	"""general transcription factor IIIC, polypeptide 4 (90kD)"""			10523658	Standard	NM_012204		Approved	TFIIIC90, KAT12	uc010mzv.3	Q9UKN8	OTTHUMG00000020842	ENST00000372146.4:c.522C>T	9.37:g.135553528C>T						GTF3C4_ENST00000483873.2_Intron	p.C174C	NM_012204.2	NP_036336.2	Q9UKN8	TF3C4_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;8.15e-07)|Epithelial(140;2.6e-05)	2	1086	+			174					Q5VZJ7	Silent	SNP	ENST00000372146.4	37	c.522C>T	CCDS6953.1																																																																																				0.532	GTF3C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054792.1			35	74	0	0	0	1	0	35	74				
GAK	2580	broad.mit.edu	37	4	906584	906584	+	Splice_Site	SNP	T	T	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr4:906584T>A	ENST00000314167.4	-	3	318		c.e3-2		GAK_ENST00000511163.1_Intron	NM_005255.2	NP_005246.2	O14976	GAK_HUMAN	cyclin G associated kinase						cell cycle (GO:0007049)|cell development (GO:0048468)|clathrin coat disassembly (GO:0072318)|clathrin-mediated endocytosis (GO:0072583)|endoplasmic reticulum organization (GO:0007029)|epidermal cell differentiation (GO:0009913)|establishment of skin barrier (GO:0061436)|forebrain morphogenesis (GO:0048853)|Golgi organization (GO:0007030)|intrahepatic bile duct development (GO:0035622)|positive regulation of neural precursor cell proliferation (GO:2000179)	cell junction (GO:0030054)|Golgi apparatus (GO:0005794)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)			autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39				Colorectal(103;0.219)		TAATAGCCTCTGTATCAGGAA	0.448																																						ENST00000314167.4																			0				autonomic_ganglia(1)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(7)|lung(16)|skin(7)|urinary_tract(2)	39						c.e3-2		cyclin G associated kinase							131.0	119.0	123.0					4																	906584		2203	4300	6503	SO:0001630	splice_region_variant	2580				cell cycle	focal adhesion|Golgi apparatus|perinuclear region of cytoplasm	ATP binding|heat shock protein binding|protein serine/threonine kinase activity	g.chr4:906584T>A	D88435	CCDS3340.1	4p16	2011-09-07			ENSG00000178950	ENSG00000178950		"""Heat shock proteins / DNAJ (HSP40)"""	4113	protein-coding gene	gene with protein product	"""auxilin-2"""	602052				9299234	Standard	NM_005255		Approved	DNAJC26	uc003gbm.4	O14976	OTTHUMG00000088301	ENST00000314167.4:c.208-2A>T	4.37:g.906584T>A						GAK_ENST00000511163.1_Intron		NM_005255.2	NP_005246.2	O14976	GAK_HUMAN		Colorectal(103;0.219)	3	318	-								Q5U4P5|Q9BVY6	Splice_Site	SNP	ENST00000314167.4	37		CCDS3340.1	.	.	.	.	.	.	.	.	.	.	T	23.5	4.424406	0.83667	.	.	ENSG00000178950	ENST00000398567;ENST00000314167	.	.	.	4.31	4.31	0.51392	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	11.7117	0.51628	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	GAK	896584	1.000000	0.71417	0.604000	0.28916	0.774000	0.43823	7.365000	0.79537	1.706000	0.51276	0.455000	0.32223	.		0.448	GAK-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000239188.1	NM_005255	Intron	16	22	0	0	0	1	0	16	22				
TRO	7216	broad.mit.edu	37	X	54955078	54955078	+	Missense_Mutation	SNP	G	G	A	rs368799977		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chrX:54955078G>A	ENST00000173898.7	+	12	2033	c.1921G>A	c.(1921-1923)Gag>Aag	p.E641K	TRO_ENST00000375022.4_Missense_Mutation_p.E641K|TRO_ENST00000399736.1_Missense_Mutation_p.E244K|TRO_ENST00000375041.2_Missense_Mutation_p.E244K|TRO_ENST00000420798.2_Missense_Mutation_p.E172K|TRO_ENST00000319167.8_Missense_Mutation_p.E641K|SNORA11_ENST00000408823.1_RNA	NM_001039705.2	NP_001034794.1	Q12816	TROP_HUMAN	trophinin	641	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.				embryo implantation (GO:0007566)|homophilic cell adhesion (GO:0007156)|negative regulation of cell growth (GO:0030308)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						GCAGTACCGCGAGGCAGTGGA	0.512																																						ENST00000173898.7																			0				breast(1)|cervix(1)|endometrium(5)|kidney(1)|large_intestine(5)|lung(19)|ovary(2)|skin(2)|urinary_tract(1)	37						c.(1921-1923)Gag>Aag		trophinin		G	LYS/GLU,LYS/GLU,LYS/GLU	1,3650		0,1,1539,571	49.0	54.0	52.0		1921,1921,1921	2.0	0.5	X		52	0,6630		0,0,2399,1832	no	missense,missense,missense	TRO	NM_001039705.1,NM_016157.2,NM_177556.1	56,56,56	0,1,3938,2403	AA,AG,GG,G		0.0,0.0274,0.0097	possibly-damaging,possibly-damaging,possibly-damaging	641/1432,641/707,641/707	54955078	1,10280	2111	4231	6342	SO:0001583	missense	7216				embryo implantation|homophilic cell adhesion	integral to plasma membrane		g.chrX:54955078G>A	U04811	CCDS43958.1, CCDS43959.1, CCDS59527.1, CCDS59528.1, CCDS59529.1	Xp11.22-p11.21	2008-02-05			ENSG00000067445	ENSG00000067445			12326	protein-coding gene	gene with protein product		300132				9533028, 11454705	Standard	NM_001039705		Approved	MAGE-D3, KIAA1114, MAGED3	uc004dtq.4	Q12816	OTTHUMG00000021640	ENST00000173898.7:c.1921G>A	X.37:g.54955078G>A	ENSP00000173898:p.Glu641Lys					TRO_ENST00000375022.4_Missense_Mutation_p.E641K|TRO_ENST00000420798.2_Missense_Mutation_p.E172K|TRO_ENST00000375041.2_Missense_Mutation_p.E244K|TRO_ENST00000399736.1_Missense_Mutation_p.E244K|TRO_ENST00000319167.8_Missense_Mutation_p.E641K	p.E641K	NM_001039705.1	NP_001034794.1	Q12816	TROP_HUMAN			12	2033	+			641			MAGE.		B1AKE9|B1AKF1|F5GY27|Q96SX2|Q9NU89|Q9UPN8	Missense_Mutation	SNP	ENST00000173898.7	37	c.1921G>A	CCDS43959.1	.	.	.	.	.	.	.	.	.	.	G	10.63	1.403505	0.25291	2.74E-4	0.0	ENSG00000067445	ENST00000173898;ENST00000319167;ENST00000375022;ENST00000399736;ENST00000319179;ENST00000420798;ENST00000375041	T;T;T;T;T;T	0.09911	3.64;3.5;3.5;3.35;2.93;3.27	2.89	2.02	0.26589	.	.	.	.	.	T	0.29491	0.0735	M	0.80183	2.485	0.36016	D	0.838373	P;P;D;P	0.67145	0.663;0.543;0.996;0.663	B;B;D;B	0.70716	0.046;0.118;0.97;0.046	T	0.28490	-1.0042	9	0.56958	D	0.05	.	8.8018	0.34914	0.127:0.0:0.873:0.0	.	244;244;641;641	B1AKE9;B1AKF1;Q96SX2;Q12816	.;.;.;TROP_HUMAN	K	641;641;641;244;244;172;244	ENSP00000173898:E641K;ENSP00000318278:E641K;ENSP00000364162:E641K;ENSP00000382641:E244K;ENSP00000405126:E172K;ENSP00000364181:E244K	ENSP00000173898:E641K	E	+	1	0	TRO	54971803	0.970000	0.33590	0.528000	0.27938	0.131000	0.20780	1.614000	0.36911	0.621000	0.30232	-0.268000	0.10319	GAG		0.512	TRO-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056837.3	NM_016157		20	17	0	0	0	1	0	20	17				
TTN	7273	broad.mit.edu	37	2	179582534	179582534	+	Missense_Mutation	SNP	C	C	A	rs376290076		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:179582534C>A	ENST00000591111.1	-	85	24340	c.24116G>T	c.(24115-24117)cGc>cTc	p.R8039L	TTN_ENST00000589042.1_Missense_Mutation_p.R8356L|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.R7112L|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron			Q8WZ42	TITIN_HUMAN	titin	12230					adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TGGAAGTTTGCGCGCTGTAAA	0.373																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(25066-25068)cGc>cTc		titin							34.0	33.0	33.0					2																	179582534		1851	4093	5944	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179582534C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.24116G>T	2.37:g.179582534C>A	ENSP00000465570:p.Arg8039Leu					TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.R8039L|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.R7112L	p.R8356L	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		87	25291	-			8039			Ig-like 66.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.25067G>T		.	.	.	.	.	.	.	.	.	.	C	14.16	2.451764	0.43531	.	.	ENSG00000155657	ENST00000342992	T	0.63417	-0.04	5.87	5.87	0.94306	Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.78717	0.4327	L	0.61387	1.9	0.80722	D	1	D	0.69078	0.997	D	0.72075	0.976	T	0.78484	-0.2186	9	0.87932	D	0	.	20.5827	0.99408	0.0:1.0:0.0:0.0	.	8039	Q8WZ42	TITIN_HUMAN	L	7112	ENSP00000343764:R7112L	ENSP00000343764:R7112L	R	-	2	0	TTN	179290779	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	2.777000	0.47717	2.941000	0.99782	0.655000	0.94253	CGC		0.373	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		6	30	1	0	0.217242	1	0.217242	6	30				
ADAMTSL1	92949	broad.mit.edu	37	9	18777333	18777333	+	Missense_Mutation	SNP	G	G	A	rs559394231	byFrequency	TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr9:18777333G>A	ENST00000380548.4	+	19	3445	c.3106G>A	c.(3106-3108)Gga>Aga	p.G1036R		NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	1036						proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CGGCTGGCCCGGAGAGCTGCT	0.706													G|||	8	0.00159744	0.0	0.0	5008	,	,		14346	0.0		0.0	False		,,,				2504	0.0082					ENST00000380548.4																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42						c.(3106-3108)Gga>Aga		ADAMTS-like 1							6.0	9.0	8.0					9																	18777333		1884	4060	5944	SO:0001583	missense	92949					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18777333G>A	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.3106G>A	9.37:g.18777333G>A	ENSP00000369921:p.Gly1036Arg						p.G1036R	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	19	3445	+			1036					A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Missense_Mutation	SNP	ENST00000380548.4	37	c.3106G>A	CCDS47954.1	.	.	.	.	.	.	.	.	.	.	G	11.40	1.628237	0.28978	.	.	ENSG00000178031	ENST00000380548	T	0.61627	0.09	5.88	5.88	0.94601	.	.	.	.	.	T	0.37945	0.1022	N	0.14661	0.345	0.26247	N	0.978781	B	0.14012	0.009	B	0.06405	0.002	T	0.15607	-1.0431	9	0.16896	T	0.51	.	9.9059	0.41375	0.0717:0.14:0.7882:0.0	.	1036	Q8N6G6	ATL1_HUMAN	R	1036	ENSP00000369921:G1036R	ENSP00000369921:G1036R	G	+	1	0	ADAMTSL1	18767333	0.024000	0.19004	0.848000	0.33437	0.939000	0.58152	0.905000	0.28504	2.792000	0.96026	0.557000	0.71058	GGA		0.706	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1			5	6	0	0	0	1	0	5	6				
THSD7A	221981	broad.mit.edu	37	7	11675891	11675891	+	Silent	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:11675891G>A	ENST00000423059.4	-	2	1139	c.888C>T	c.(886-888)gcC>gcT	p.A296A	THSD7A_ENST00000480061.1_5'Flank	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN	thrombospondin, type I, domain containing 7A	296					angiogenesis (GO:0001525)|cell differentiation (GO:0030154)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113				UCEC - Uterine corpus endometrioid carcinoma (126;0.163)		TAAGCTCGCGGGCTTCTGGAT	0.463										HNSCC(18;0.044)																												ENST00000423059.3																			0				NS(1)|autonomic_ganglia(1)|breast(5)|cervix(1)|endometrium(8)|kidney(2)|large_intestine(7)|lung(68)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(11)	113						c.(886-888)gcC>gcT		thrombospondin, type I, domain containing 7A							141.0	134.0	136.0					7																	11675891		1868	4111	5979	SO:0001819	synonymous_variant	221981					integral to membrane		g.chr7:11675891G>A		CCDS47543.1	7p21.3	2006-10-16			ENSG00000005108	ENSG00000005108			22207	protein-coding gene	gene with protein product		612249					Standard	NM_015204		Approved	KIAA0960	uc021zzn.1	Q9UPZ6	OTTHUMG00000152346	ENST00000423059.4:c.888C>T	7.37:g.11675891G>A		HNSCC(18;0.044)					p.A296A	NM_015204.2	NP_056019.1	Q9UPZ6	THS7A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.163)	2	1139	-			296						Silent	SNP	ENST00000423059.4	37	c.888C>T	CCDS47543.1																																																																																				0.463	THSD7A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325944.4	XM_928187.2		49	90	0	0	0	1	0	49	90				
HCFC1	3054	broad.mit.edu	37	X	153216400	153216400	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chrX:153216400A>G	ENST00000310441.7	-	23	6533	c.5567T>C	c.(5566-5568)cTg>cCg	p.L1856P	HCFC1_ENST00000354233.3_Missense_Mutation_p.L1787P|HCFC1_ENST00000369984.4_Missense_Mutation_p.L1901P	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN	host cell factor C1	1856	Fibronectin type-III 2. {ECO:0000255|PROSITE-ProRule:PRU00316}.				cell cycle (GO:0007049)|chromatin organization (GO:0006325)|histone H4-K16 acetylation (GO:0043984)|histone H4-K5 acetylation (GO:0043981)|histone H4-K8 acetylation (GO:0043982)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cell cycle (GO:0045787)|positive regulation of gene expression (GO:0010628)|protein stabilization (GO:0050821)|regulation of protein complex assembly (GO:0043254)|regulation of transcription, DNA-templated (GO:0006355)|release from viral latency (GO:0019046)|transcription from RNA polymerase II promoter (GO:0006366)	cytoplasm (GO:0005737)|histone acetyltransferase complex (GO:0000123)|membrane (GO:0016020)|mitochondrion (GO:0005739)|MLL1 complex (GO:0071339)|MLL5-L complex (GO:0070688)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	chromatin binding (GO:0003682)|identical protein binding (GO:0042802)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001205)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)			NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)					GCCTGGCTGCAGCTCCTGCTT	0.562																																						ENST00000310441.7																			0				NS(1)|breast(2)|central_nervous_system(2)|endometrium(12)|kidney(3)|large_intestine(3)|lung(18)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	47						c.(5566-5568)cTg>cCg		host cell factor C1 (VP16-accessory protein)							122.0	133.0	130.0					X																	153216400		2041	4159	6200	SO:0001583	missense	3054				cell cycle|interspecies interaction between organisms|positive regulation of cell cycle|positive regulation of gene expression|protein stabilization|reactivation of latent virus|regulation of protein complex assembly|transcription from RNA polymerase II promoter	mitochondrion|MLL1 complex|MLL5-L complex|Set1C/COMPASS complex	chromatin binding|identical protein binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity	g.chrX:153216400A>G		CCDS44020.1	Xq28	2014-06-12	2014-06-09		ENSG00000172534	ENSG00000172534			4839	protein-coding gene	gene with protein product	"""VP16-accessory protein"", ""protein phosphatase 1, regulatory subunit 89"""	300019	"""mental retardation, X-linked 3"", ""host cell factor C1 (VP16-accessory protein)"""	HFC1, MRX3		8392914, 23000143	Standard	XM_005274664		Approved	HCF-1, HCF1, CFF, VCAF, MGC70925, PPP1R89	uc004fjp.3	P51610	OTTHUMG00000024222	ENST00000310441.7:c.5567T>C	X.37:g.153216400A>G	ENSP00000309555:p.Leu1856Pro					HCFC1_ENST00000369984.4_Missense_Mutation_p.L1901P|HCFC1_ENST00000354233.3_Missense_Mutation_p.L1787P	p.L1856P	NM_005334.2	NP_005325.2	P51610	HCFC1_HUMAN			23	6533	-	all_cancers(53;6.23e-16)|all_epithelial(53;5.61e-10)|all_lung(58;3.99e-07)|Lung NSC(58;5.02e-07)|all_hematologic(71;4.25e-06)|Acute lymphoblastic leukemia(192;6.56e-05)		1856					Q6P4G5	Missense_Mutation	SNP	ENST00000310441.7	37	c.5567T>C	CCDS44020.1	.	.	.	.	.	.	.	.	.	.	A	27.1	4.795906	0.90453	.	.	ENSG00000172534	ENST00000310441;ENST00000369984;ENST00000354233	D;D;D	0.81659	-1.52;-1.52;-1.52	5.64	5.64	0.86602	Fibronectin, type III (2);Immunoglobulin-like fold (1);	0.000000	0.85682	D	0.000000	D	0.91429	0.7295	M	0.91140	3.18	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.93144	0.6544	10	0.87932	D	0	.	13.8588	0.63548	1.0:0.0:0.0:0.0	.	1856	P51610	HCFC1_HUMAN	P	1856;1901;1787	ENSP00000309555:L1856P;ENSP00000359001:L1901P;ENSP00000346174:L1787P	ENSP00000309555:L1856P	L	-	2	0	HCFC1	152869594	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	8.956000	0.93066	1.917000	0.55516	0.424000	0.28305	CTG		0.562	HCFC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000061099.4	NM_005334		128	72	0	0	0	1	0	128	72				
OR1C1	26188	broad.mit.edu	37	1	247920946	247920946	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:247920946C>A	ENST00000408896.2	-	1	1036	c.763G>T	c.(763-765)Gcc>Tcc	p.A255S		NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	olfactory receptor, family 1, subfamily C, member 1	255					detection of chemical stimulus involved in sensory perception of smell (GO:0050911)|sensory perception of smell (GO:0007608)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.A255S(1)		central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	OV - Ovarian serous cystadenocarcinoma(106;0.0168)			ACGGCGATGGCTGTGCCGTAA	0.522																																						ENST00000408896.2																			1	Substitution - Missense(1)	p.A255S(1)	lung(1)	central_nervous_system(2)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(32)|skin(2)|upper_aerodigestive_tract(1)	46						c.(763-765)Gcc>Tcc		olfactory receptor, family 1, subfamily C, member 1							62.0	63.0	63.0					1																	247920946		2062	4220	6282	SO:0001583	missense	26188				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr1:247920946C>A	X89674	CCDS41481.1	1q44	2012-08-09			ENSG00000221888	ENSG00000221888		"""GPCR / Class A : Olfactory receptors"""	8182	protein-coding gene	gene with protein product						9119360	Standard	NM_012353		Approved	TPCR27, HSTPCR27	uc010pza.2	Q15619	OTTHUMG00000040198	ENST00000408896.2:c.763G>T	1.37:g.247920946C>A	ENSP00000386138:p.Ala255Ser						p.A255S	NM_012353.2	NP_036485.2	Q15619	OR1C1_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0168)		1	1036	-	all_cancers(71;4.34e-05)|all_epithelial(71;1.13e-05)|Breast(184;0.0149)|Ovarian(71;0.0377)|all_lung(81;0.0786)|Lung NSC(105;0.0858)	all_cancers(173;0.0247)	255					B9EIR9|Q5VVD2|Q6IF97|Q8NGZ1|Q96R83	Missense_Mutation	SNP	ENST00000408896.2	37	c.763G>T	CCDS41481.1	.	.	.	.	.	.	.	.	.	.	C	9.783	1.175904	0.21704	.	.	ENSG00000221888	ENST00000408896	T	0.00179	8.61	3.22	2.29	0.28610	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00144	0.0004	N	0.25789	0.76	0.09310	N	1	P	0.34815	0.47	B	0.36378	0.223	T	0.18681	-1.0329	9	0.27785	T	0.31	.	7.7653	0.28976	0.0:0.7865:0.0:0.2134	.	255	Q15619	OR1C1_HUMAN	S	255	ENSP00000386138:A255S	ENSP00000386138:A255S	A	-	1	0	OR1C1	245987569	0.000000	0.05858	0.998000	0.56505	0.408000	0.30992	-2.685000	0.00834	1.798000	0.52647	0.591000	0.81541	GCC		0.522	OR1C1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096855.1			14	32	1	0	0.000219431	1	0.000224551	14	32				
NUTM2G	441457	broad.mit.edu	37	9	99697674	99697674	+	Missense_Mutation	SNP	G	G	A	rs566397855		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr9:99697674G>A	ENST00000372322.3	+	3	799	c.778G>A	c.(778-780)Gcc>Acc	p.A260T	NUTM2G_ENST00000354649.3_Missense_Mutation_p.A260T|HIATL2_ENST00000506067.1_Intron	NM_001170741.1	NP_001164212.1	Q5VZR2	NTM2G_HUMAN	NUT family member 2G	260																	ACTGTGGCGGGCCATGCGGGA	0.627													.|||	1	0.000199681	0.0008	0.0	5008	,	,		18117	0.0		0.0	False		,,,				2504	0.0					ENST00000354649.3																			0											c.(778-780)Gcc>Acc		NUT family member 2G							50.0	53.0	52.0					9																	99697674		2015	4178	6193	SO:0001583	missense	441457							g.chr9:99697674G>A		CCDS43854.1, CCDS55329.1	9q22.33	2013-05-02	2013-03-14	2013-05-02	ENSG00000188152	ENSG00000188152			23449	protein-coding gene	gene with protein product			"""family with sequence similarity 22, member G"""	FAM22G			Standard	NM_001045477		Approved			Q5VZR2	OTTHUMG00000020305	ENST00000372322.3:c.778G>A	9.37:g.99697674G>A	ENSP00000361397:p.Ala260Thr					HIATL2_ENST00000506067.1_Intron|NUTM2G_ENST00000372322.3_Missense_Mutation_p.A260T	p.A260T	NM_001045477.2	NP_001038942.1					3	1493	+								A6NNI5|Q5VZR3	Missense_Mutation	SNP	ENST00000372322.3	37	c.778G>A	CCDS55329.1	.	.	.	.	.	.	.	.	.	.	.	16.23	3.064311	0.55432	.	.	ENSG00000188152	ENST00000354649;ENST00000372322;ENST00000375230	T;T	0.29917	1.55;1.55	1.19	1.19	0.21007	.	0.256356	0.27677	N	0.018317	T	0.44973	0.1319	M	0.73217	2.22	0.09310	N	1	D	0.71674	0.998	D	0.65684	0.937	T	0.11743	-1.0575	10	0.62326	D	0.03	.	5.7883	0.18347	0.0:0.0:1.0:0.0	.	260	Q5VZR2-2	.	T	260;260;141	ENSP00000346670:A260T;ENSP00000361397:A260T	ENSP00000346670:A260T	A	+	1	0	FAM22G	98737495	0.563000	0.26594	0.030000	0.17652	0.405000	0.30901	2.617000	0.46385	0.993000	0.38866	0.298000	0.19748	GCC		0.627	NUTM2G-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053291.2	NM_001170741		4	102	0	0	0	1	0	4	102				
KCTD8	386617	broad.mit.edu	37	4	44450422	44450422	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr4:44450422G>A	ENST00000360029.3	-	1	402	c.119C>T	c.(118-120)tCg>tTg	p.S40L	AC131951.1_ENST00000584757.1_RNA	NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN	potassium channel tetramerization domain containing 8	40					protein homooligomerization (GO:0051260)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)		p.S40L(1)		central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						AGGGAAGGGCGAGGGTGCGCA	0.677										HNSCC(17;0.042)																												ENST00000360029.3																			1	Substitution - Missense(1)	p.S40L(1)	lung(1)	central_nervous_system(3)|endometrium(4)|kidney(2)|large_intestine(5)|lung(19)|ovary(1)|prostate(3)|upper_aerodigestive_tract(4)	41						c.(118-120)tCg>tTg		potassium channel tetramerization domain containing 8							18.0	15.0	16.0					4																	44450422		2093	4122	6215	SO:0001583	missense	386617					cell junction|postsynaptic membrane|presynaptic membrane|voltage-gated potassium channel complex	voltage-gated potassium channel activity	g.chr4:44450422G>A	AK123347	CCDS3467.1	4p13	2013-06-20	2013-06-20		ENSG00000183783	ENSG00000183783			22394	protein-coding gene	gene with protein product			"""potassium channel tetramerisation domain containing 8"""				Standard	NM_198353		Approved		uc003gwu.3	Q6ZWB6	OTTHUMG00000099409	ENST00000360029.3:c.119C>T	4.37:g.44450422G>A	ENSP00000353129:p.Ser40Leu	HNSCC(17;0.042)					p.S40L	NM_198353.2	NP_938167.1	Q6ZWB6	KCTD8_HUMAN			1	402	-			40					A2RU39	Missense_Mutation	SNP	ENST00000360029.3	37	c.119C>T	CCDS3467.1	.	.	.	.	.	.	.	.	.	.	G	10.47	1.358089	0.24598	.	.	ENSG00000183783	ENST00000360029	T	0.39592	1.07	4.01	4.01	0.46588	.	0.317119	0.26334	N	0.024975	T	0.24160	0.0585	N	0.19112	0.55	0.31390	N	0.677936	B	0.28801	0.223	B	0.11329	0.006	T	0.19095	-1.0316	10	0.41790	T	0.15	.	8.9734	0.35921	0.0:0.0:0.7787:0.2213	.	40	Q6ZWB6	KCTD8_HUMAN	L	40	ENSP00000353129:S40L	ENSP00000353129:S40L	S	-	2	0	KCTD8	44145179	0.993000	0.37304	0.957000	0.39632	0.448000	0.32197	0.923000	0.28757	2.050000	0.60909	0.467000	0.42956	TCG		0.677	KCTD8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000216868.1			10	18	0	0	0	1	0	10	18				
HLA-B	3106	broad.mit.edu	37	6	31323943	31323943	+	Splice_Site	SNP	C	C	T	rs45516893		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr6:31323943C>T	ENST00000412585.2	-	3	648		c.e3+1			NM_005514.6	NP_005505.2	P30486	1B48_HUMAN	major histocompatibility complex, class I, B						antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|immune response (GO:0006955)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|viral process (GO:0016032)	cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|MHC class I protein complex (GO:0042612)	peptide antigen binding (GO:0042605)			endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						GCCCCTGGTACCAGCGCGCTC	0.647									Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of																													ENST00000412585.2																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(4)|lung(4)|prostate(1)|upper_aerodigestive_tract(2)	27						c.e3+1		major histocompatibility complex, class I, B							17.0	20.0	19.0					6																	31323943		2149	4223	6372	SO:0001630	splice_region_variant	3106	Melanoma, Familial Clustering of;Lichen Sclerosis et Atrophicus, Familial Clustering of	Familial Cancer Database	;Lichen Sclerosis, Familial				g.chr6:31323943C>T	M15470	CCDS34394.1	6p21.3	2013-01-11			ENSG00000234745	ENSG00000234745		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4932	protein-coding gene	gene with protein product		142830	"""ankylosing spondylitis"""	AS		3459708	Standard	NM_005514		Approved		uc011imz.2	P01889	OTTHUMG00000031153	ENST00000412585.2:c.619+1G>A	6.37:g.31323943C>T								NM_005514.6	NP_005505.2					3	648	-								Q29764	Splice_Site	SNP	ENST00000412585.2	37		CCDS34394.1	.	.	.	.	.	.	.	.	.	.	.	12.65	2.000980	0.35320	.	.	ENSG00000234745	ENST00000412585;ENST00000428231;ENST00000452596;ENST00000434333	.	.	.	3.18	3.18	0.36537	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	12.2269	0.54465	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	HLA-B	31431922	1.000000	0.71417	0.088000	0.20740	0.016000	0.09150	4.927000	0.63440	1.801000	0.52704	0.297000	0.19635	.		0.647	HLA-B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076280.4	NM_005514	Intron	12	12	0	0	0	1	0	12	12				
PNPLA7	375775	broad.mit.edu	37	9	140361907	140361907	+	Silent	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr9:140361907G>A	ENST00000277531.4	-	25	3012	c.2826C>T	c.(2824-2826)ggC>ggT	p.G942G	PNPLA7_ENST00000371457.1_Silent_p.G548G|PNPLA7_ENST00000492278.1_5'UTR|PNPLA7_ENST00000406427.1_Silent_p.G967G	NM_152286.3	NP_689499.3	Q6ZV29	PLPL7_HUMAN	patatin-like phospholipase domain containing 7	942	Patatin.				lipid metabolic process (GO:0006629)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	all_cancers(76;0.126)			OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)		CCTTGAGAACGCCCACCTGGG	0.642																																						ENST00000406427.1																			0				breast(1)|central_nervous_system(3)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(13)|ovary(1)|prostate(1)|skin(2)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(2899-2901)ggC>ggT		patatin-like phospholipase domain containing 7							72.0	61.0	65.0					9																	140361907		2203	4298	6501	SO:0001819	synonymous_variant	375775				lipid metabolic process	endoplasmic reticulum|integral to membrane|lysosomal membrane|microsome|mitochondrial membrane|nuclear membrane	hydrolase activity	g.chr9:140361907G>A	AK126267	CCDS7045.1, CCDS48070.1	9q34.3	2009-01-12	2006-06-12	2006-06-12	ENSG00000130653	ENSG00000130653		"""Patatin-like phospholipase domain containing"""	24768	protein-coding gene	gene with protein product		612122	"""chromosome 9 open reading frame 111"""	C9orf111		16799181, 12640454, 19029121	Standard	XM_005266082		Approved	FLJ43070, FLJ31318, FLJ44279, RP11-48C7.2, NTEL1, NTE-R1	uc010ncj.1	Q6ZV29	OTTHUMG00000020990	ENST00000277531.4:c.2826C>T	9.37:g.140361907G>A						PNPLA7_ENST00000277531.4_Silent_p.G942G|PNPLA7_ENST00000492278.1_5'UTR|PNPLA7_ENST00000371457.1_Silent_p.G548G	p.G967G	NM_001098537.1	NP_001092007.1	Q6ZV29	PLPL7_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;0.000268)|Epithelial(140;0.000839)	26	3237	-	all_cancers(76;0.126)		942			Patatin.		B5MDD3|Q5T364|Q658X0|Q658Y3|Q6ZTS1|Q86YU8|Q8TAY5|Q96N75|Q9H7N5	Silent	SNP	ENST00000277531.4	37	c.2901C>T	CCDS7045.1																																																																																				0.642	PNPLA7-007	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000254787.1	NM_152286		28	64	0	0	0	1	0	28	64				
RNF123	63891	broad.mit.edu	37	3	49735362	49735362	+	Silent	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr3:49735362C>T	ENST00000327697.6	+	6	531	c.387C>T	c.(385-387)tgC>tgT	p.C129C	RNF123_ENST00000432042.1_5'UTR	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN	ring finger protein 123	129	B30.2/SPRY. {ECO:0000255|PROSITE- ProRule:PRU00548}.				protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38				BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)		CTACCACATGCGTGTACAAAG	0.562																																						ENST00000327697.6																			0				NS(1)|breast(4)|cervix(2)|endometrium(4)|kidney(4)|large_intestine(6)|lung(11)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	38						c.(385-387)tgC>tgT		ring finger protein 123							313.0	273.0	286.0					3																	49735362		2203	4300	6503	SO:0001819	synonymous_variant	63891					cytoplasm	ligase activity|protein binding|zinc ion binding	g.chr3:49735362C>T	AK022627	CCDS33758.1	3p24.3	2008-02-05			ENSG00000164068	ENSG00000164068		"""RING-type (C3HC4) zinc fingers"""	21148	protein-coding gene	gene with protein product		614472					Standard	NM_022064		Approved	FLJ12565	uc003cxh.4	Q5XPI4	OTTHUMG00000156891	ENST00000327697.6:c.387C>T	3.37:g.49735362C>T						RNF123_ENST00000432042.1_5'UTR	p.C129C	NM_022064.3	NP_071347.2	Q5XPI4	RN123_HUMAN		BRCA - Breast invasive adenocarcinoma(193;4.71e-05)|Kidney(197;0.00227)|KIRC - Kidney renal clear cell carcinoma(197;0.00255)	6	531	+			129			B30.2/SPRY.		A1L4Q3|A6NLS5|Q5I022|Q6PFW4|Q71RH0|Q8IW18|Q9H0M8|Q9H5L8|Q9H9T2	Silent	SNP	ENST00000327697.6	37	c.387C>T	CCDS33758.1																																																																																				0.562	RNF123-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000346475.2	NM_022064		7	254	0	0	0	1	0	7	254				
DNAH3	55567	broad.mit.edu	37	16	21060917	21060917	+	Silent	SNP	C	C	T	rs546341139		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr16:21060917C>T	ENST00000261383.3	-	31	4433	c.4434G>A	c.(4432-4434)gcG>gcA	p.A1478A	DNAH3_ENST00000415178.1_Silent_p.A1478A	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN	dynein, axonemal, heavy chain 3	1478	AAA 1. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|microtubule motor activity (GO:0003777)			NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202				GBM - Glioblastoma multiforme(48;0.207)		CATCAAAGCACGCCCATGCTC	0.517																																						ENST00000261383.3																			0				NS(3)|autonomic_ganglia(1)|breast(12)|central_nervous_system(3)|cervix(2)|endometrium(15)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(42)|liver(2)|lung(57)|ovary(14)|pancreas(1)|prostate(7)|skin(11)|stomach(5)|upper_aerodigestive_tract(7)|urinary_tract(6)	202						c.(4432-4434)gcG>gcA		dynein, axonemal, heavy chain 3							98.0	87.0	91.0					16																	21060917		2201	4300	6501	SO:0001819	synonymous_variant	55567				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr16:21060917C>T	U83574	CCDS10594.1	16p12.2	2008-08-01	2006-09-04		ENSG00000158486	ENSG00000158486		"""Axonemal dyneins"""	2949	protein-coding gene	gene with protein product		603334	"""dynein, axonemal, heavy polypeptide 3"""			9256245, 9373155	Standard	NM_017539		Approved	Dnahc3b, DLP3, Hsadhc3, DKFZp434N074	uc010vbe.2	Q8TD57	OTTHUMG00000090677	ENST00000261383.3:c.4434G>A	16.37:g.21060917C>T						DNAH3_ENST00000415178.1_Silent_p.A1478A	p.A1478A	NM_017539.1	NP_060009.1	Q8TD57	DYH3_HUMAN		GBM - Glioblastoma multiforme(48;0.207)	31	4433	-			1478			AAA 1 (By similarity).		O00437|O15437|O43326|Q3C0H2|Q8WUP9|Q9UEM3|Q9UEM5|Q9UG35	Silent	SNP	ENST00000261383.3	37	c.4434G>A	CCDS10594.1																																																																																				0.517	DNAH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000207361.1	NM_017539		14	36	0	0	0	1	0	14	36				
RNASE12	493901	broad.mit.edu	37	14	21058544	21058544	+	Silent	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr14:21058544G>A	ENST00000556526.1	-	1	438	c.339C>T	c.(337-339)ggC>ggT	p.G113G	RP11-14J7.6_ENST00000556487.1_RNA|RNASE11_ENST00000398009.2_5'Flank|RNASE11_ENST00000610205.1_5'Flank|RNASE11_ENST00000553849.1_5'Flank|RP11-14J7.6_ENST00000554529.1_RNA|RP11-14J7.6_ENST00000554006.1_RNA|RNASE11_ENST00000432835.2_5'Flank|RP11-14J7.6_ENST00000554993.1_RNA|RNASE11_ENST00000398008.2_5'Flank|RNASE11_ENST00000555841.1_5'Flank|RNASE11_ENST00000555283.1_Intron|RP11-14J7.6_ENST00000553604.1_RNA	NM_001024822.2	NP_001019993.1	Q5GAN4	RNS12_HUMAN	ribonuclease, RNase A family, 12 (non-active)	113						extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)			kidney(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8	all_cancers(95;0.00238)		Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.013)		GGTATCTTGTGCCTTCAATGA	0.463																																						ENST00000556526.1																			0				kidney(1)|lung(4)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(337-339)ggC>ggT		ribonuclease, RNase A family, 12 (non-active)							110.0	101.0	104.0					14																	21058544		2203	4300	6503	SO:0001819	synonymous_variant	493901					extracellular region	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:21058544G>A		CCDS32037.1	14q11.1	2012-10-05			ENSG00000258436	ENSG00000258436		"""Ribonucleases, RNase A"""	24211	protein-coding gene	gene with protein product							Standard	NM_001024822		Approved		uc001vxt.3	Q5GAN4	OTTHUMG00000170991	ENST00000556526.1:c.339C>T	14.37:g.21058544G>A						RNASE11_ENST00000335950.4_5'UTR|RP11-14J7.6_ENST00000554529.1_RNA|RP11-14J7.6_ENST00000553604.1_RNA|RP11-14J7.6_ENST00000556487.1_RNA|AL163195.3_ENST00000555283.1_RNA	p.G113G	NM_001024822.2	NP_001019993.1	Q5GAN4	RNS12_HUMAN	Epithelial(56;1.85e-06)|all cancers(55;1.46e-05)	GBM - Glioblastoma multiforme(265;0.013)	1	438	-	all_cancers(95;0.00238)		113						Silent	SNP	ENST00000556526.1	37	c.339C>T	CCDS32037.1																																																																																				0.463	RNASE12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000411107.1			30	64	0	0	0	1	0	30	64				
ABCA7	10347	broad.mit.edu	37	19	1043811	1043811	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:1043811A>G	ENST00000263094.6	+	10	1249	c.1018A>G	c.(1018-1020)Aac>Gac	p.N340D	ABCA7_ENST00000433129.1_Missense_Mutation_p.N340D|ABCA7_ENST00000435683.2_Missense_Mutation_p.N202D	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 7	340					apolipoprotein A-I-mediated signaling pathway (GO:0038027)|ATP catabolic process (GO:0006200)|cholesterol efflux (GO:0033344)|high-density lipoprotein particle assembly (GO:0034380)|memory (GO:0007613)|negative regulation of amyloid precursor protein biosynthetic process (GO:0042985)|negative regulation of ATPase activity (GO:0032780)|negative regulation of beta-amyloid formation (GO:1902430)|peptide cross-linking (GO:0018149)|phagocytosis (GO:0006909)|phospholipid efflux (GO:0033700)|phospholipid scrambling (GO:0017121)|positive regulation of ATPase activity (GO:0032781)|positive regulation of beta-amyloid clearance (GO:1900223)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of engulfment of apoptotic cell (GO:1901076)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of phagocytosis (GO:0050766)|positive regulation of phospholipid efflux (GO:1902995)|protein localization to nucleus (GO:0034504)|transmembrane transport (GO:0055085)	apical plasma membrane (GO:0016324)|ATP-binding cassette (ABC) transporter complex (GO:0043190)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)	apolipoprotein A-I receptor activity (GO:0034188)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|phospholipid transporter activity (GO:0005548)|transporter activity (GO:0005215)			NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		CACCTTCATGAACGACAGTTC	0.637																																						ENST00000263094.6																			0				NS(1)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(8)|large_intestine(7)|lung(22)|ovary(1)|pancreas(7)|prostate(4)|skin(3)|upper_aerodigestive_tract(1)	65						c.(1018-1020)Aac>Gac		ATP-binding cassette, sub-family A (ABC1), member 7							168.0	168.0	168.0					19																	1043811		2203	4300	6503	SO:0001583	missense	10347				phagocytosis|transmembrane transport	ATP-binding cassette (ABC) transporter complex|endosome membrane|Golgi membrane|integral to membrane|plasma membrane	ATP binding|ATPase activity|transporter activity	g.chr19:1043811A>G	AF328787	CCDS12055.1	19p13.3	2012-03-14			ENSG00000064687	ENSG00000064687		"""ATP binding cassette transporters / subfamily A"""	37	protein-coding gene	gene with protein product		605414					Standard	NM_019112		Approved	ABCX	uc002lqw.4	Q8IZY2	OTTHUMG00000167547	ENST00000263094.6:c.1018A>G	19.37:g.1043811A>G	ENSP00000263094:p.Asn340Asp					ABCA7_ENST00000435683.2_Missense_Mutation_p.N202D|ABCA7_ENST00000433129.1_Missense_Mutation_p.N340D	p.N340D	NM_019112.3	NP_061985.2	Q8IZY2	ABCA7_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	10	1249	+		Acute lymphoblastic leukemia(61;2.53e-14)|all_hematologic(61;8.18e-10)|Lung NSC(49;1.04e-05)|all_lung(49;1.53e-05)|Breast(49;9.42e-05)|Hepatocellular(1079;0.137)	340					Q96S58|Q9BZC4|Q9NR73|Q9UKP8	Missense_Mutation	SNP	ENST00000263094.6	37	c.1018A>G	CCDS12055.1	.	.	.	.	.	.	.	.	.	.	A	11.12	1.546381	0.27652	.	.	ENSG00000064687	ENST00000263094;ENST00000433129	D;D	0.84660	-1.88;-1.88	4.33	4.33	0.51752	.	.	.	.	.	T	0.80869	0.4706	L	0.35487	1.065	0.27808	N	0.942228	P;B	0.40909	0.732;0.041	P;B	0.47915	0.561;0.028	T	0.70714	-0.4796	9	0.28530	T	0.3	.	6.5163	0.22250	0.8879:0.0:0.1121:0.0	.	202;340	Q8IZY2-2;Q8IZY2	.;ABCA7_HUMAN	D	340	ENSP00000263094:N340D;ENSP00000414062:N340D	ENSP00000263094:N340D	N	+	1	0	ABCA7	994811	1.000000	0.71417	0.168000	0.22838	0.537000	0.34900	2.282000	0.43461	1.585000	0.49928	0.374000	0.22700	AAC		0.637	ABCA7-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000394993.1	NM_019112		94	231	0	0	0	1	0	94	231				
SGCE	8910	broad.mit.edu	37	7	94252690	94252690	+	Missense_Mutation	SNP	C	C	T	rs548306335	byFrequency	TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:94252690C>T	ENST00000265735.7	-	4	520	c.410G>A	c.(409-411)cGc>cAc	p.R137H	SGCE_ENST00000447873.1_Missense_Mutation_p.R137H|SGCE_ENST00000445866.2_Missense_Mutation_p.R137H|SGCE_ENST00000437425.2_Missense_Mutation_p.R96H|SGCE_ENST00000415788.2_Missense_Mutation_p.R173H|SGCE_ENST00000428696.2_Missense_Mutation_p.R137H	NM_003919.2	NP_003910.1	O43556	SGCE_HUMAN	sarcoglycan, epsilon	137					cell-matrix adhesion (GO:0007160)|muscle organ development (GO:0007517)	cytoskeleton (GO:0005856)|dendrite membrane (GO:0032590)|dystrophin-associated glycoprotein complex (GO:0016010)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|sarcoglycan complex (GO:0016012)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	14	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		STAD - Stomach adenocarcinoma(171;0.0031)			CTCAAAGGTGCGCCTGTTGTA	0.274													C|||	4	0.000798722	0.0	0.0	5008	,	,		15357	0.0		0.0	False		,,,				2504	0.0041					ENST00000415788.2																			0				NS(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(1)|skin(1)	14						c.(517-519)cGc>cAc		sarcoglycan, epsilon							40.0	40.0	40.0					7																	94252690		2202	4283	6485	SO:0001583	missense	8910				cell-matrix adhesion|muscle organ development	cytoplasm|cytoskeleton|integral to plasma membrane|sarcoglycan complex|sarcolemma	calcium ion binding	g.chr7:94252690C>T	AF036364	CCDS5637.1, CCDS47642.1, CCDS47643.1, CCDS75634.1	7q21.3	2014-09-17			ENSG00000127990	ENSG00000127990			10808	protein-coding gene	gene with protein product		604149		DYT11		9475163, 9405466	Standard	NM_001099401		Approved		uc003unn.2	O43556	OTTHUMG00000022828	ENST00000265735.7:c.410G>A	7.37:g.94252690C>T	ENSP00000265735:p.Arg137His					SGCE_ENST00000445866.2_Missense_Mutation_p.R137H|SGCE_ENST00000428696.2_Missense_Mutation_p.R137H|SGCE_ENST00000447873.1_Missense_Mutation_p.R137H|SGCE_ENST00000265735.7_Missense_Mutation_p.R137H|SGCE_ENST00000437425.2_Missense_Mutation_p.R96H	p.R173H			O43556	SGCE_HUMAN	STAD - Stomach adenocarcinoma(171;0.0031)		5	605	-	all_cancers(62;8.26e-10)|all_epithelial(64;5.59e-09)|Lung NSC(181;0.188)|all_lung(186;0.215)		137					B2R8N2|D6W5Q8|E9PF60|G5E9K6|Q6L8P0|Q75MH8|Q8NFG8|Q8WW28	Missense_Mutation	SNP	ENST00000265735.7	37	c.518G>A	CCDS5637.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.588957	0.86851	.	.	ENSG00000127990	ENST00000265735;ENST00000445866;ENST00000437425;ENST00000447873;ENST00000428696;ENST00000415788	D;D;D;D;D;D	0.97688	-4.49;-4.49;-4.49;-4.49;-4.49;-4.49	5.35	5.35	0.76521	Dystroglycan-type cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.98251	0.9421	L	0.55481	1.735	0.80722	D	1	D;D;D;D;D	0.89917	1.0;0.99;0.997;0.999;1.0	D;P;D;D;D	0.83275	0.982;0.708;0.956;0.967;0.996	D	0.98276	1.0506	10	0.41790	T	0.15	-24.9781	19.4362	0.94796	0.0:1.0:0.0:0.0	.	173;96;137;137;137	B7Z2R4;E9PEH6;E9PF60;G5E9K6;O43556	.;.;.;.;SGCE_HUMAN	H	137;137;96;137;137;173	ENSP00000265735:R137H;ENSP00000398930:R137H;ENSP00000394061:R96H;ENSP00000388734:R137H;ENSP00000397536:R137H;ENSP00000405313:R173H	ENSP00000265735:R137H	R	-	2	0	SGCE	94090626	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	7.294000	0.78760	2.677000	0.91161	0.650000	0.86243	CGC		0.274	SGCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255251.2			8	16	0	0	0	1	0	8	16				
STAT4	6775	broad.mit.edu	37	2	191894585	191894585	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:191894585G>T	ENST00000392320.2	-	24	2542	c.2228C>A	c.(2227-2229)tCt>tAt	p.S743Y	STAT4_ENST00000358470.4_Missense_Mutation_p.S743Y|AC067945.4_ENST00000456176.1_RNA	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	signal transducer and activator of transcription 4	743					cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|JAK-STAT cascade (GO:0007259)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|protein phosphorylation (GO:0006468)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|signal transducer activity (GO:0004871)			breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42			OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)			AGAATAAGGAGACTTCATCTA	0.328																																						ENST00000392320.2																			0				breast(4)|endometrium(1)|kidney(2)|large_intestine(6)|lung(19)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	42						c.(2227-2229)tCt>tAt		signal transducer and activator of transcription 4							155.0	165.0	162.0					2																	191894585		2202	4300	6502	SO:0001583	missense	6775				JAK-STAT cascade	cytoplasm|nucleus	calcium ion binding|protein binding|sequence-specific DNA binding transcription factor activity|signal transducer activity	g.chr2:191894585G>T		CCDS2310.1	2q32.2-q32.3	2013-02-14			ENSG00000138378	ENSG00000138378		"""SH2 domain containing"""	11365	protein-coding gene	gene with protein product		600558				8007943, 8700208	Standard	NM_003151		Approved		uc002usn.2	Q14765	OTTHUMG00000132700	ENST00000392320.2:c.2228C>A	2.37:g.191894585G>T	ENSP00000376134:p.Ser743Tyr					STAT4_ENST00000358470.4_Missense_Mutation_p.S743Y|AC067945.4_ENST00000456176.1_RNA	p.S743Y	NM_003151.3	NP_003142.1	Q14765	STAT4_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.00854)|Epithelial(96;0.0864)|all cancers(119;0.204)		24	2542	-			743					Q96NZ6	Missense_Mutation	SNP	ENST00000392320.2	37	c.2228C>A	CCDS2310.1	.	.	.	.	.	.	.	.	.	.	G	17.36	3.370488	0.61624	.	.	ENSG00000138378	ENST00000358470;ENST00000392320	D;D	0.89270	-2.49;-2.49	4.79	4.79	0.61399	.	0.225948	0.37577	N	0.002023	D	0.86818	0.6024	L	0.57536	1.79	0.80722	D	1	B	0.30406	0.278	B	0.25405	0.06	D	0.86786	0.1982	10	0.72032	D	0.01	-13.3374	16.5495	0.84470	0.0:0.0:1.0:0.0	.	743	Q14765	STAT4_HUMAN	Y	743	ENSP00000351255:S743Y;ENSP00000376134:S743Y	ENSP00000351255:S743Y	S	-	2	0	STAT4	191602830	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	5.353000	0.66034	2.653000	0.90120	0.655000	0.94253	TCT		0.328	STAT4-002	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335586.1	NM_003151		12	202	1	0	2.32078e-09	1	2.54004e-09	12	202				
CHD3	1107	broad.mit.edu	37	17	7813774	7813774	+	Silent	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:7813774C>T	ENST00000330494.7	+	38	5769	c.5619C>T	c.(5617-5619)agC>agT	p.S1873S	CHD3_ENST00000380358.4_Silent_p.S1932S|AC025335.1_ENST00000324348.7_RNA|CHD3_ENST00000358181.4_Silent_p.S1839S	NM_001005273.2	NP_001005273.1	Q12873	CHD3_HUMAN	chromodomain helicase DNA binding protein 3	1873	Required for interaction with PCNT.				centrosome organization (GO:0051297)|chromatin assembly or disassembly (GO:0006333)|chromatin modification (GO:0016568)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)|spindle organization (GO:0007051)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|intermediate filament cytoskeleton (GO:0045111)|nucleolus (GO:0005730)|nucleus (GO:0005634)|NuRD complex (GO:0016581)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|helicase activity (GO:0004386)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65		Prostate(122;0.202)				AGTTGCTGAGCGACATGAAGG	0.612																																						ENST00000380358.4																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(11)|kidney(6)|large_intestine(13)|liver(2)|lung(14)|ovary(1)|pancreas(1)|prostate(7)|skin(3)|urinary_tract(2)	65						c.(5794-5796)agC>agT		chromodomain helicase DNA binding protein 3							57.0	66.0	63.0					17																	7813774		2203	4300	6503	SO:0001819	synonymous_variant	1107				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding|zinc ion binding	g.chr17:7813774C>T	U08379	CCDS32553.2, CCDS32554.1, CCDS32555.1	17p13	2013-01-28			ENSG00000170004	ENSG00000170004		"""Zinc fingers, PHD-type"""	1918	protein-coding gene	gene with protein product		602120				9326634, 7560064	Standard	NM_001005271		Approved	Mi-2a, ZFH, Mi2-ALPHA	uc002gjd.2	Q12873	OTTHUMG00000150427	ENST00000330494.7:c.5619C>T	17.37:g.7813774C>T						CHD3_ENST00000330494.7_Silent_p.S1873S|CHD3_ENST00000358181.4_Silent_p.S1839S	p.S1932S	NM_001005271.2	NP_001005271.2	Q12873	CHD3_HUMAN			38	5797	+		Prostate(122;0.202)	1873			Required for interaction with PCNT.		D3DTQ9|E9PG89|Q9Y4I0	Silent	SNP	ENST00000330494.7	37	c.5796C>T	CCDS32554.1	.	.	.	.	.	.	.	.	.	.	c	21.3	4.124572	0.77436	.	.	ENSG00000170004	ENST00000439235	.	.	.	4.97	4.97	0.65823	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-21.9036	8.7587	0.34661	0.0:0.8294:0.0:0.1706	.	.	.	.	X	217	.	ENSP00000395252:R217X	R	+	1	2	CHD3	7754499	0.976000	0.34144	1.000000	0.80357	0.998000	0.95712	0.175000	0.16762	2.586000	0.87340	0.552000	0.68991	CGA		0.612	CHD3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000318050.1	NM_001005273		37	122	0	0	0	1	0	37	122				
OPRK1	4986	broad.mit.edu	37	8	54142051	54142051	+	Missense_Mutation	SNP	C	C	T	rs200826073		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr8:54142051C>T	ENST00000265572.3	-	4	1246	c.949G>A	c.(949-951)Gcc>Acc	p.A317T	OPRK1_ENST00000520287.1_Missense_Mutation_p.A317T|OPRK1_ENST00000524278.1_Missense_Mutation_p.A228T|RP11-162D9.3_ENST00000524425.1_RNA	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN	opioid receptor, kappa 1	317					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-inhibiting opioid receptor signaling pathway (GO:0031635)|behavior (GO:0007610)|defense response to virus (GO:0051607)|immune response (GO:0006955)|locomotory behavior (GO:0007626)|opioid receptor signaling pathway (GO:0038003)|phospholipase C-activating G-protein coupled receptor signaling pathway (GO:0007200)|regulation of saliva secretion (GO:0046877)|sensory perception (GO:0007600)|sensory perception of pain (GO:0019233)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	dynorphin receptor activity (GO:0038048)|opioid receptor activity (GO:0004985)			NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)			Alvimopan(DB06274)|Amitriptyline(DB00321)|Buprenorphine(DB00921)|Butorphanol(DB00611)|Codeine(DB00318)|Dextromethorphan(DB00514)|Dextropropoxyphene(DB00647)|Dezocine(DB01209)|Fentanyl(DB00813)|Heroin(DB01452)|Hydromorphone(DB00327)|Ketamine(DB01221)|Ketobemidone(DB06738)|Levorphanol(DB00854)|Loperamide(DB00836)|Menthol(DB00825)|Methylnaltrexone(DB06800)|Mianserin(DB06148)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naloxone(DB01183)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Pethidine(DB00454)|Progesterone(DB00396)|Remifentanil(DB00899)|Sufentanil(DB00708)|Tapentadol(DB06204)|Tramadol(DB00193)	TAGCCTAAGGCGATGCAGAAG	0.512																																						ENST00000265572.3																			0				NS(2)|breast(3)|endometrium(3)|kidney(12)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(5)|urinary_tract(1)	43						c.(949-951)Gcc>Acc		opioid receptor, kappa 1	Buprenorphine(DB00921)|Butorphanol(DB00611)|Cocaine(DB00907)|Codeine(DB00318)|Dezocine(DB01209)|Hydrocodone(DB00956)|Hydromorphone(DB00327)|Meperidine(DB00454)|Mirtazapine(DB00370)|Morphine(DB00295)|Nalbuphine(DB00844)|Naltrexone(DB00704)|Oxycodone(DB00497)|Pentazocine(DB00652)|Propoxyphene(DB00647)|Tramadol(DB00193)						77.0	69.0	72.0					8																	54142051		2203	4300	6503	SO:0001583	missense	4986				behavior|immune response|inhibition of adenylate cyclase activity by G-protein signaling pathway|sensory perception|synaptic transmission|viral genome replication	integral to plasma membrane	kappa-opioid receptor activity|protein binding	g.chr8:54142051C>T		CCDS6152.1, CCDS64895.1	8q11.2	2014-05-21			ENSG00000082556	ENSG00000082556		"""GPCR / Class A : Opioid receptors"""	8154	protein-coding gene	gene with protein product		165196				8188308	Standard	XM_005251252		Approved	KOR, OPRK	uc003xri.1	P41145	OTTHUMG00000164276	ENST00000265572.3:c.949G>A	8.37:g.54142051C>T	ENSP00000265572:p.Ala317Thr					OPRK1_ENST00000524278.1_Missense_Mutation_p.A228T|OPRK1_ENST00000520287.1_Missense_Mutation_p.A317T|RP11-162D9.3_ENST00000524425.1_RNA	p.A317T	NM_000912.3	NP_000903.2	P41145	OPRK_HUMAN			4	1246	-		all_epithelial(80;0.066)|Lung NSC(129;0.0804)|all_lung(136;0.136)	317					E5RHC9|Q499G4	Missense_Mutation	SNP	ENST00000265572.3	37	c.949G>A	CCDS6152.1	.	.	.	.	.	.	.	.	.	.	C	32	5.143717	0.94603	.	.	ENSG00000082556	ENST00000265572;ENST00000524278;ENST00000520287;ENST00000396798	T;T;T	0.72167	-0.63;-0.63;-0.63	5.8	5.8	0.92144	GPCR, rhodopsin-like superfamily (1);	0.000000	0.85682	D	0.000000	T	0.79656	0.4483	L	0.44542	1.39	0.80722	D	1	D	0.64830	0.994	D	0.64321	0.924	T	0.78871	-0.2033	10	0.52906	T	0.07	.	20.051	0.97627	0.0:1.0:0.0:0.0	.	317	P41145	OPRK_HUMAN	T	317;228;317;303	ENSP00000265572:A317T;ENSP00000430923:A228T;ENSP00000429706:A317T	ENSP00000265572:A317T	A	-	1	0	OPRK1	54304604	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.818000	0.86416	2.740000	0.93945	0.650000	0.86243	GCC		0.512	OPRK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378048.1			19	33	0	0	0	1	0	19	33				
NPY4R	5540	broad.mit.edu	37	10	47087490	47087490	+	Missense_Mutation	SNP	G	G	A	rs148351061		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr10:47087490G>A	ENST00000395716.1	+	2	792	c.707G>A	c.(706-708)cGc>cAc	p.R236H	NPY4R_ENST00000374312.1_Missense_Mutation_p.R236H			P50391	NPY4R_HUMAN	neuropeptide Y receptor Y4	236					blood circulation (GO:0008015)|digestion (GO:0007586)|feeding behavior (GO:0007631)|G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|pancreatic polypeptide receptor activity (GO:0001602)|peptide binding (GO:0042277)|peptide YY receptor activity (GO:0001601)	p.R236L(1)									TGTTATGCACGCATCTACCGG	0.607																																						ENST00000374312.1																			1	Substitution - Missense(1)	p.R236L(1)	lung(1)								c.(706-708)cGc>cAc		neuropeptide Y receptor Y4		G	HIS/ARG	0,4406		0,0,2203	177.0	145.0	156.0		707	4.2	0.7	10	dbSNP_134	156	1,8599	1.2+/-3.3	0,1,4299	no	missense	PPYR1	NM_005972.4	29	0,1,6502	AA,AG,GG		0.0116,0.0,0.0077	probably-damaging	236/376	47087490	1,13005	2203	4300	6503	SO:0001583	missense	5540							g.chr10:47087490G>A		CCDS73100.1	10q11.2	2013-03-26	2013-03-26	2013-03-26	ENSG00000204174	ENSG00000204174		"""GPCR / Class A : Neuropeptide receptors : Y"""	9329	protein-coding gene	gene with protein product		601790	"""pancreatic polypeptide receptor 1"""	PPYR1		9417917	Standard	NM_005972		Approved	Y4, PP1	uc001jee.3	P50391	OTTHUMG00000018108	ENST00000395716.1:c.707G>A	10.37:g.47087490G>A	ENSP00000379066:p.Arg236His					NPY4R_ENST00000395716.1_Missense_Mutation_p.R236H	p.R236H	NM_005972.4	NP_005963.3					3	1126	+								Q13456|Q5ISU3|Q5T2X9|Q6FH06	Missense_Mutation	SNP	ENST00000395716.1	37	c.707G>A	CCDS31193.1	.	.	.	.	.	.	.	.	.	.	G	15.38	2.817368	0.50633	0.0	1.16E-4	ENSG00000204174	ENST00000374312;ENST00000395716	T;T	0.39056	1.1;1.1	5.12	4.21	0.49690	GPCR, rhodopsin-like superfamily (1);	0.248091	0.40554	N	0.001075	T	0.47801	0.1465	M	0.81497	2.545	0.58432	D	0.999998	P	0.45827	0.867	B	0.43251	0.413	T	0.54214	-0.8327	10	0.51188	T	0.08	.	11.5756	0.50860	0.0877:0.0:0.9123:0.0	.	236	P50391	NPY4R_HUMAN	H	236	ENSP00000363431:R236H;ENSP00000379066:R236H	ENSP00000363431:R236H	R	+	2	0	PPYR1	46507496	1.000000	0.71417	0.698000	0.30274	0.632000	0.37999	6.165000	0.71891	1.313000	0.45069	0.609000	0.83330	CGC		0.607	NPY4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047837.1			30	178	0	0	0	1	0	30	178				
SPTLC3	55304	broad.mit.edu	37	20	13098248	13098248	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr20:13098248C>T	ENST00000399002.2	+	8	1302	c.1028C>T	c.(1027-1029)gCc>gTc	p.A343V	SPTLC3_ENST00000378194.4_Intron	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN	serine palmitoyltransferase, long chain base subunit 3	343					small molecule metabolic process (GO:0044281)|sphingoid biosynthetic process (GO:0046520)|sphingolipid biosynthetic process (GO:0030148)|sphingolipid metabolic process (GO:0006665)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|serine C-palmitoyltransferase complex (GO:0017059)	pyridoxal phosphate binding (GO:0030170)|serine C-palmitoyltransferase activity (GO:0004758)			breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25						AGTATTGGGGCCGTGGGCCCA	0.502																																						ENST00000399002.2																			0				breast(1)|endometrium(1)|large_intestine(7)|lung(14)|skin(1)|urinary_tract(1)	25						c.(1027-1029)gCc>gTc		serine palmitoyltransferase, long chain base subunit 3	Pyridoxal Phosphate(DB00114)						103.0	106.0	105.0					20																	13098248		1860	4104	5964	SO:0001583	missense	55304				sphingoid biosynthetic process	integral to membrane|serine C-palmitoyltransferase complex	pyridoxal phosphate binding|serine C-palmitoyltransferase activity|transferase activity, transferring nitrogenous groups	g.chr20:13098248C>T	AL109983	CCDS13115.2	20p12.1	2011-07-05	2006-12-21	2006-12-21	ENSG00000172296	ENSG00000172296	2.3.1.50		16253	protein-coding gene	gene with protein product		611120	"""chromosome 20 open reading frame 38"", ""serine palmitoyltransferase, long chain base subunit 2-like (aminotransferase 2)"""	C20orf38, SPTLC2L		17023427	Standard	NM_018327		Approved	LCB2B, FLJ11112, hLCB2b	uc002wod.1	Q9NUV7	OTTHUMG00000031899	ENST00000399002.2:c.1028C>T	20.37:g.13098248C>T	ENSP00000381968:p.Ala343Val					SPTLC3_ENST00000378194.4_Intron	p.A343V	NM_018327.2	NP_060797.2	Q9NUV7	SPTC3_HUMAN			8	1302	+			343					A2A2I4|B9EK64|Q05DQ8|Q5T1U4|Q9H1L1|Q9H1Z0	Missense_Mutation	SNP	ENST00000399002.2	37	c.1028C>T	CCDS13115.2	.	.	.	.	.	.	.	.	.	.	C	21.7	4.185198	0.78677	.	.	ENSG00000172296	ENST00000399002	D	0.88975	-2.45	5.86	2.6	0.31112	Aminotransferase, class I/classII (1);Pyridoxal phosphate-dependent transferase, major region, subdomain 1 (1);Pyridoxal phosphate-dependent transferase, major domain (1);	0.473628	0.25768	N	0.028425	D	0.90428	0.7003	L	0.35341	1.055	0.50039	D	0.99984	P	0.50369	0.934	P	0.61874	0.895	D	0.90846	0.4727	10	0.54805	T	0.06	-0.3152	17.3922	0.87435	0.0:0.6536:0.3463:0.0	.	343	Q9NUV7	SPTC3_HUMAN	V	343	ENSP00000381968:A343V	ENSP00000381968:A343V	A	+	2	0	SPTLC3	13046248	0.890000	0.30428	0.001000	0.08648	0.940000	0.58332	3.302000	0.51849	0.873000	0.35799	0.650000	0.86243	GCC		0.502	SPTLC3-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254544.1	NM_018327		59	109	0	0	0	1	0	59	109				
ASH1L	55870	broad.mit.edu	37	1	155385595	155385595	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:155385595C>T	ENST00000368346.3	-	6	6587	c.5948G>A	c.(5947-5949)cGt>cAt	p.R1983H	snoU13_ENST00000458873.1_RNA|ASH1L_ENST00000392403.3_Missense_Mutation_p.R1983H			Q9NR48	ASH1L_HUMAN	ash1 (absent, small, or homeotic)-like (Drosophila)	1983					cell-cell signaling (GO:0007267)|DNA packaging (GO:0006323)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	chromosome (GO:0005694)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)|tight junction (GO:0005923)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)			CTTTGGGGGACGTGGGGGCTT	0.453																																						ENST00000368346.3																			0				autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|endometrium(12)|kidney(13)|large_intestine(28)|lung(39)|ovary(2)|pancreas(1)|prostate(6)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(4)	124						c.(5947-5949)cGt>cAt		ash1 (absent, small, or homeotic)-like (Drosophila)							149.0	163.0	158.0					1																	155385595		2203	4300	6503	SO:0001583	missense	55870				cell-cell signaling|DNA packaging|regulation of transcription, DNA-dependent|transcription from RNA polymerase II promoter	chromosome|Golgi apparatus|nucleus|tight junction	DNA binding|histone-lysine N-methyltransferase activity|zinc ion binding	g.chr1:155385595C>T	AB037841	CCDS1113.2	1q22	2013-01-28			ENSG00000116539	ENSG00000116539		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	19088	protein-coding gene	gene with protein product		607999				10860993, 16545939	Standard	NM_018489		Approved	huASH1, ASH1, ASH1L1, KMT2H	uc001fkt.3	Q9NR48	OTTHUMG00000014011	ENST00000368346.3:c.5948G>A	1.37:g.155385595C>T	ENSP00000357330:p.Arg1983His					ASH1L_ENST00000392403.3_Missense_Mutation_p.R1983H	p.R1983H			Q9NR48	ASH1L_HUMAN	Epithelial(20;1.74e-08)|all cancers(21;3.29e-08)|BRCA - Breast invasive adenocarcinoma(34;0.021)		6	6587	-	Hepatocellular(266;0.0997)|all_neural(408;0.129)|all_hematologic(923;0.145)		1983					Q59GP1|Q5T714|Q5T715|Q9P2C7	Missense_Mutation	SNP	ENST00000368346.3	37	c.5948G>A		.	.	.	.	.	.	.	.	.	.	C	26.9	4.785233	0.90282	.	.	ENSG00000116539	ENST00000368346;ENST00000392403	T;T	0.54675	0.56;0.56	4.98	4.98	0.66077	.	0.000000	0.85682	D	0.000000	T	0.51770	0.1694	N	0.24115	0.695	0.80722	D	1	D;D	0.76494	0.998;0.999	D;D	0.74674	0.964;0.984	T	0.58825	-0.7568	10	0.72032	D	0.01	.	16.1993	0.82057	0.0:1.0:0.0:0.0	.	1983;1983	Q9NR48;Q9NR48-2	ASH1L_HUMAN;.	H	1983	ENSP00000357330:R1983H;ENSP00000376204:R1983H	ENSP00000357330:R1983H	R	-	2	0	ASH1L	153652219	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	5.679000	0.68160	2.604000	0.88044	0.585000	0.79938	CGT		0.453	ASH1L-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000039400.1	NM_018489		55	152	0	0	0	1	0	55	152				
SGSM1	129049	broad.mit.edu	37	22	25301151	25301151	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr22:25301151G>T	ENST00000400359.4	+	22	2987	c.2980G>T	c.(2980-2982)Gat>Tat	p.D994Y	SGSM1_ENST00000400358.4_Missense_Mutation_p.D939Y	NM_001039948.2|NM_133454.2	NP_001035037.1|NP_597711.1	Q2NKQ1	SGSM1_HUMAN	small G protein signaling modulator 1	994	Rab-GAP TBC. {ECO:0000255|PROSITE- ProRule:PRU00163}.					Golgi apparatus (GO:0005794)	Rab GTPase activator activity (GO:0005097)			NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						CATTCTGGATGATGGTGAGTG	0.512																																						ENST00000400358.4																			0				NS(2)|breast(1)|central_nervous_system(2)|endometrium(5)|kidney(2)|large_intestine(14)|lung(10)|ovary(2)|pancreas(1)|prostate(1)|upper_aerodigestive_tract(1)	41						c.(2815-2817)Gat>Tat		small G protein signaling modulator 1							254.0	248.0	250.0					22																	25301151		2141	4259	6400	SO:0001583	missense	129049					Golgi apparatus	Rab GTPase activator activity	g.chr22:25301151G>T	AB075821	CCDS46674.1, CCDS46675.1, CCDS74834.1	22q11.23	2013-07-09	2007-08-14	2007-08-14	ENSG00000167037	ENSG00000167037		"""Small G protein signaling modulators"""	29410	protein-coding gene	gene with protein product		611417	"""RUN and TBC1 domain containing 2"""	RUTBC2		11853319, 17509819, 22637480	Standard	NM_133454		Approved	KIAA1941	uc003abg.2	Q2NKQ1	OTTHUMG00000150837	ENST00000400359.4:c.2980G>T	22.37:g.25301151G>T	ENSP00000383212:p.Asp994Tyr					SGSM1_ENST00000400359.4_Missense_Mutation_p.D994Y	p.D939Y	NM_001098497.1|NM_001098498.1	NP_001091967.1|NP_001091968.1	Q2NKQ1	SGSM1_HUMAN			21	2872	+			994			Rab-GAP TBC.		A5LGW1|A8MUT4|B0QYW0|B0QYW1|B5MEG1|B9A6J4|Q5TFL3|Q8TF60	Missense_Mutation	SNP	ENST00000400359.4	37	c.2815G>T	CCDS46674.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.873022	0.91664	.	.	ENSG00000167037	ENST00000403206;ENST00000400358;ENST00000400359	T;T	0.05855	3.38;3.38	5.62	5.62	0.85841	Rab-GAP/TBC domain (4);	0.085714	0.85682	D	0.000000	T	0.35451	0.0932	M	0.90977	3.165	0.80722	D	1	D;D;D;D	0.89917	0.996;0.999;0.999;1.0	D;D;D;D	0.91635	0.991;0.993;0.998;0.999	T	0.33111	-0.9881	10	0.87932	D	0	-33.6014	19.0368	0.92982	0.0:0.0:1.0:0.0	.	939;994;1011;994	Q2NKQ1-4;C9J7S8;Q2NKQ1-3;Q2NKQ1	.;.;.;SGSM1_HUMAN	Y	994;939;994	ENSP00000383211:D939Y;ENSP00000383212:D994Y	ENSP00000383211:D939Y	D	+	1	0	SGSM1	23631151	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.813000	0.86123	2.823000	0.97156	0.643000	0.83706	GAT		0.512	SGSM1-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000320282.1	XM_059318		50	137	1	0	4.78724e-31	1	5.98649e-31	50	137				
DISP2	85455	broad.mit.edu	37	15	40661397	40661397	+	Silent	SNP	C	C	G			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr15:40661397C>G	ENST00000267889.3	+	8	3171	c.3084C>G	c.(3082-3084)ctC>ctG	p.L1028L	RP11-64K12.4_ENST00000558421.1_RNA|LINC00594_ENST00000561261.1_lincRNA	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN	dispatched homolog 2 (Drosophila)	1028					smoothened signaling pathway (GO:0007224)	integral component of membrane (GO:0016021)				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)		CAGTGGGCCTCTCAGTAGACT	0.607																																						ENST00000267889.3																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(12)|ovary(4)	30						c.(3082-3084)ctC>ctG		dispatched homolog 2 (Drosophila)							98.0	94.0	95.0					15																	40661397		2203	4300	6503	SO:0001819	synonymous_variant	85455				smoothened signaling pathway	integral to membrane		g.chr15:40661397C>G	AB051529	CCDS10056.1	15q14	2004-01-15			ENSG00000140323	ENSG00000140323			19712	protein-coding gene	gene with protein product		607503				11214970, 10619433	Standard	NM_033510		Approved	DISPB, KIAA1742, HsT16908	uc001zlk.1	A7MBM2	OTTHUMG00000129983	ENST00000267889.3:c.3084C>G	15.37:g.40661397C>G						RP11-64K12.4_ENST00000558421.1_RNA	p.L1028L	NM_033510.1	NP_277045.1	A7MBM2	DISP2_HUMAN		GBM - Glioblastoma multiforme(113;3.39e-06)|Colorectal(105;0.0114)|READ - Rectum adenocarcinoma(2;0.0649)|BRCA - Breast invasive adenocarcinoma(123;0.0798)|Lung(196;0.15)|LUAD - Lung adenocarcinoma(183;0.247)	8	3171	+		all_cancers(109;9.35e-19)|all_epithelial(112;1.18e-15)|Lung NSC(122;2.45e-11)|all_lung(180;6.47e-10)|Melanoma(134;0.0574)|Ovarian(310;0.0822)|Colorectal(260;0.117)	1028					Q6AHW3|Q9C0C1	Silent	SNP	ENST00000267889.3	37	c.3084C>G	CCDS10056.1																																																																																				0.607	DISP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252249.1	NM_033510		54	100	0	0	0	1	0	54	100				
MYH7B	57644	broad.mit.edu	37	20	33568398	33568398	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr20:33568398C>G	ENST00000262873.7	+	6	578	c.486C>G	c.(484-486)ttC>ttG	p.F162L	MYH7B_ENST00000481922.1_3'UTR	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	myosin, heavy chain 7B, cardiac muscle, beta	120	Myosin motor.					membrane (GO:0016020)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54			BRCA - Breast invasive adenocarcinoma(18;0.00691)			CAGGCCTCTTCTGTGTCACCA	0.517																																						ENST00000262873.7																			0				NS(2)|breast(5)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(8)|lung(19)|ovary(5)|prostate(3)|upper_aerodigestive_tract(2)|urinary_tract(3)	54						c.(484-486)ttC>ttG		myosin, heavy chain 7B, cardiac muscle, beta							161.0	170.0	167.0					20																	33568398		2196	4300	6496	SO:0001583	missense	57644					membrane|myosin filament	actin binding|ATP binding|motor activity	g.chr20:33568398C>G	AB040945	CCDS42869.1	20q11	2011-09-27	2006-09-29		ENSG00000078814	ENSG00000078814		"""Myosins / Myosin superfamily : Class II"""	15906	protein-coding gene	gene with protein product		609928	"""myosin, heavy polypeptide 7B, cardiac muscle, beta"""			11919279, 15014174	Standard	XM_006723839		Approved	KIAA1512, dJ756N5.1, MYH14, MHC14	uc002xbi.2	A7E2Y1	OTTHUMG00000032320	ENST00000262873.7:c.486C>G	20.37:g.33568398C>G	ENSP00000262873:p.Phe162Leu					MYH7B_ENST00000481922.1_3'UTR	p.F162L	NM_020884.3	NP_065935.2	A7E2Y1	MYH7B_HUMAN	BRCA - Breast invasive adenocarcinoma(18;0.00691)		6	578	+			120			Myosin head-like.		Q5JVW7|Q6NT44|Q6NT57|Q6WG75|Q96I57|Q9NWE2|Q9P216	Missense_Mutation	SNP	ENST00000262873.7	37	c.486C>G	CCDS42869.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.599779	0.87055	.	.	ENSG00000078814	ENST00000262873	D	0.87491	-2.26	4.46	4.46	0.54185	Myosin head, motor domain (3);	0.000000	0.39687	N	0.001285	D	0.92341	0.7570	M	0.79475	2.455	0.58432	D	0.999996	D	0.62365	0.991	D	0.76575	0.988	D	0.92681	0.6158	10	0.87932	D	0	.	11.2034	0.48754	0.0:0.9151:0.0:0.0849	.	120	A7E2Y1	MYH7B_HUMAN	L	162	ENSP00000262873:F162L	ENSP00000262873:F162L	F	+	3	2	MYH7B	33032059	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	3.947000	0.56652	2.472000	0.83506	0.655000	0.94253	TTC		0.517	MYH7B-001	NOVEL	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000078833.2	NM_020884		100	197	0	0	0	1	0	100	197				
ADAMTS12	81792	broad.mit.edu	37	5	33596151	33596151	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr5:33596151T>C	ENST00000504830.1	-	17	2877	c.2542A>G	c.(2542-2544)Act>Gct	p.T848A	ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.T763A	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 12	848	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.				cell migration (GO:0016477)|cell-matrix adhesion (GO:0007160)|cellular response to BMP stimulus (GO:0071773)|cellular response to interleukin-1 (GO:0071347)|cellular response to tumor necrosis factor (GO:0071356)|negative regulation of cellular response to hepatocyte growth factor stimulus (GO:2001113)|negative regulation of cellular response to vascular endothelial growth factor stimulus (GO:1902548)|negative regulation of chondrocyte differentiation (GO:0032331)|negative regulation of hepatocyte growth factor receptor signaling pathway (GO:1902203)|proteoglycan catabolic process (GO:0030167)|proteolysis involved in cellular protein catabolic process (GO:0051603)|regulation of endothelial tube morphogenesis (GO:1901509)|regulation of inflammatory response (GO:0050727)	extracellular matrix (GO:0031012)|proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						CAATGGGCAGTTTGGCGGCGG	0.522										HNSCC(64;0.19)																												ENST00000504830.1																			0				NS(1)|breast(7)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(11)|large_intestine(31)|liver(1)|lung(135)|ovary(4)|prostate(1)|skin(6)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(5)	216						c.(2542-2544)Act>Gct		ADAM metallopeptidase with thrombospondin type 1 motif, 12							128.0	117.0	121.0					5																	33596151		2203	4300	6503	SO:0001583	missense	81792				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:33596151T>C	AJ250725	CCDS34140.1	5q35	2008-07-18	2005-08-19		ENSG00000151388	ENSG00000151388		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	14605	protein-coding gene	gene with protein product		606184	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 12"""			11279086	Standard	NM_030955		Approved		uc003jia.1	P58397	OTTHUMG00000162088	ENST00000504830.1:c.2542A>G	5.37:g.33596151T>C	ENSP00000422554:p.Thr848Ala	HNSCC(64;0.19)				ADAMTS12_ENST00000504582.1_5'UTR|ADAMTS12_ENST00000352040.3_Missense_Mutation_p.T763A	p.T848A	NM_030955.2	NP_112217.2	P58397	ATS12_HUMAN			17	2877	-			848			TSP type-1 2.		A2RRN9|A5D6V6|Q6UWL3	Missense_Mutation	SNP	ENST00000504830.1	37	c.2542A>G	CCDS34140.1	.	.	.	.	.	.	.	.	.	.	T	9.863	1.196734	0.22037	.	.	ENSG00000151388	ENST00000504830;ENST00000352040	T;T	0.53206	0.63;0.63	5.77	4.57	0.56435	.	0.336851	0.36338	N	0.002658	T	0.36799	0.0980	L	0.43554	1.36	0.80722	D	1	B;B	0.10296	0.003;0.0	B;B	0.10450	0.004;0.005	T	0.13548	-1.0505	10	0.08837	T	0.75	.	12.3141	0.54946	0.0:0.0671:0.0:0.9329	.	763;848	P58397-3;P58397	.;ATS12_HUMAN	A	848;763	ENSP00000422554:T848A;ENSP00000344847:T763A	ENSP00000344847:T763A	T	-	1	0	ADAMTS12	33631908	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	2.228000	0.42981	1.073000	0.40885	0.477000	0.44152	ACT		0.522	ADAMTS12-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367164.2	NM_030955		23	65	0	0	0	1	0	23	65				
MACC1	346389	broad.mit.edu	37	7	20180627	20180627	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:20180627A>G	ENST00000400331.5	-	7	2809	c.2501T>C	c.(2500-2502)cTa>cCa	p.L834P	MACC1_ENST00000332878.4_Missense_Mutation_p.L834P|MACC1_ENST00000589011.1_Missense_Mutation_p.L834P|MACC1-AS1_ENST00000439285.1_RNA	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	834					positive regulation of cell division (GO:0051781)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						AGAATTTACTAGTATTAAAAC	0.373																																						ENST00000400331.5																			0				endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						c.(2500-2502)cTa>cCa		metastasis associated in colon cancer 1							98.0	104.0	102.0					7																	20180627		2203	4300	6503	SO:0001583	missense	346389				positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity	g.chr7:20180627A>G		CCDS5369.1	7p15.3	2008-10-14			ENSG00000183742	ENSG00000183742			30215	protein-coding gene	gene with protein product		612646					Standard	NM_182762		Approved	7A5, SH3BP4L	uc003sus.4	Q6ZN28	OTTHUMG00000128415	ENST00000400331.5:c.2501T>C	7.37:g.20180627A>G	ENSP00000383185:p.Leu834Pro					MACC1_ENST00000332878.4_Missense_Mutation_p.L834P|MACC1_ENST00000589011.1_Missense_Mutation_p.L834P	p.L834P	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN			7	2809	-			834					A8MUS5|B2RNR9|Q6ZQN8|Q7Z5A5	Missense_Mutation	SNP	ENST00000400331.5	37	c.2501T>C	CCDS5369.1	.	.	.	.	.	.	.	.	.	.	A	18.16	3.561845	0.65538	.	.	ENSG00000183742	ENST00000400331;ENST00000332878	T;T	0.46819	0.86;0.86	5.74	5.74	0.90152	.	0.181464	0.48767	D	0.000176	T	0.63965	0.2556	L	0.55990	1.75	0.58432	D	0.999997	D	0.76494	0.999	D	0.67231	0.95	T	0.66783	-0.5836	10	0.87932	D	0	-11.2543	16.0486	0.80740	1.0:0.0:0.0:0.0	.	834	Q6ZN28	MACC1_HUMAN	P	834	ENSP00000383185:L834P;ENSP00000328410:L834P	ENSP00000328410:L834P	L	-	2	0	MACC1	20147152	1.000000	0.71417	0.520000	0.27837	0.742000	0.42306	5.861000	0.69553	2.183000	0.69458	0.533000	0.62120	CTA		0.373	MACC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250202.5	NM_182762		32	72	0	0	0	1	0	32	72				
RELN	5649	broad.mit.edu	37	7	103234330	103234330	+	Splice_Site	SNP	C	C	G			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:103234330C>G	ENST00000428762.1	-	27	3871		c.e27-1		RELN_ENST00000424685.2_Splice_Site|RELN_ENST00000343529.5_Splice_Site	NM_005045.3	NP_005036.2	P78509	RELN_HUMAN	reelin						associative learning (GO:0008306)|axon guidance (GO:0007411)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cell morphogenesis involved in differentiation (GO:0000904)|central nervous system development (GO:0007417)|cerebral cortex tangential migration (GO:0021800)|dendrite development (GO:0016358)|glial cell differentiation (GO:0010001)|hippocampus development (GO:0021766)|lateral motor column neuron migration (GO:0097477)|layer formation in cerebral cortex (GO:0021819)|long-term memory (GO:0007616)|N-methyl-D-aspartate receptor clustering (GO:0097114)|neuron migration (GO:0001764)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000969)|positive regulation of CREB transcription factor activity (GO:0032793)|positive regulation of dendritic spine morphogenesis (GO:0061003)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|positive regulation of lateral motor column neuron migration (GO:1902078)|positive regulation of long-term synaptic potentiation (GO:1900273)|positive regulation of neuron projection development (GO:0010976)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase activity (GO:0045860)|positive regulation of protein tyrosine kinase activity (GO:0061098)|positive regulation of small GTPase mediated signal transduction (GO:0051057)|positive regulation of synapse maturation (GO:0090129)|positive regulation of synaptic transmission, glutamatergic (GO:0051968)|positive regulation of TOR signaling (GO:0032008)|postsynaptic density protein 95 clustering (GO:0097119)|receptor localization to synapse (GO:0097120)|reelin-mediated signaling pathway (GO:0038026)|regulation of behavior (GO:0050795)|regulation of N-methyl-D-aspartate selective glutamate receptor activity (GO:2000310)|regulation of synaptic transmission (GO:0050804)|response to pain (GO:0048265)|spinal cord patterning (GO:0021511)|ventral spinal cord development (GO:0021517)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|extracellular space (GO:0005615)|proteinaceous extracellular matrix (GO:0005578)	lipoprotein particle receptor binding (GO:0070325)|metal ion binding (GO:0046872)|protein serine/threonine/tyrosine kinase activity (GO:0004712)|serine-type peptidase activity (GO:0008236)|very-low-density lipoprotein particle receptor binding (GO:0070326)			NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227				COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)		CATAAAAGTTCTAATAGAAAC	0.343																																					NSCLC(146;835 1944 15585 22231 52158)	ENST00000428762.1																			0				NS(3)|breast(8)|central_nervous_system(3)|cervix(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(4)|kidney(6)|large_intestine(43)|lung(101)|ovary(9)|pancreas(2)|prostate(4)|skin(14)|stomach(2)|upper_aerodigestive_tract(12)|urinary_tract(2)	227						c.e27-1		reelin							60.0	56.0	58.0					7																	103234330		2203	4300	6503	SO:0001630	splice_region_variant	5649				axon guidance|cell adhesion|cerebral cortex tangential migration|glial cell differentiation|neuron migration|peptidyl-tyrosine phosphorylation|positive regulation of protein kinase activity|positive regulation of small GTPase mediated signal transduction|response to pain|spinal cord patterning	cytoplasm|dendrite|extracellular space|proteinaceous extracellular matrix	metal ion binding|protein serine/threonine/tyrosine kinase activity|serine-type peptidase activity	g.chr7:103234330C>G		CCDS34722.1, CCDS47680.1	7q22	2008-07-18			ENSG00000189056	ENSG00000189056			9957	protein-coding gene	gene with protein product		600514				9049633	Standard	NM_005045		Approved	RL, PRO1598	uc010liz.3	P78509	OTTHUMG00000157247	ENST00000428762.1:c.3712-1G>C	7.37:g.103234330C>G						RELN_ENST00000343529.5_Splice_Site|RELN_ENST00000424685.2_Splice_Site		NM_005045.3	NP_005036.2	P78509	RELN_HUMAN		COAD - Colon adenocarcinoma(1;8.98e-05)|Colorectal(1;0.00184)	27	3871	-								A4D0P9|A4D0Q0|Q86UJ0|Q86UJ8|Q8NDV0|Q9UDQ2	Splice_Site	SNP	ENST00000428762.1	37		CCDS47680.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.314782	0.81358	.	.	ENSG00000189056	ENST00000428762;ENST00000343529;ENST00000424685;ENST00000448171	.	.	.	5.95	5.95	0.96441	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	20.3748	0.98911	0.0:1.0:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	RELN	103021566	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.076000	0.76806	2.817000	0.96982	0.563000	0.77884	.		0.343	RELN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348148.1	NM_005045	Intron	12	24	0	0	0	1	0	12	24				
SH2D2A	9047	broad.mit.edu	37	1	156777036	156777036	+	Silent	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:156777036G>A	ENST00000368199.3	-	8	1257	c.1104C>T	c.(1102-1104)caC>caT	p.H368H	SH2D2A_ENST00000392306.2_Silent_p.H378H|SH2D2A_ENST00000368198.3_Silent_p.H350H	NM_001161443.1|NM_001161444.1|NM_003975.3	NP_001154915.1|NP_001154916.1|NP_003966.2	Q9NP31	SH22A_HUMAN	SH2 domain containing 2A	368	Pro-rich.				angiogenesis (GO:0001525)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|positive regulation of signal transduction (GO:0009967)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)	SH3/SH2 adaptor activity (GO:0005070)			endometrium(1)|large_intestine(2)|lung(15)	18	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)					TAGAAAGATTGTGGGGGAGGG	0.592																																						ENST00000392306.2																			0				endometrium(1)|large_intestine(2)|lung(15)	18						c.(1132-1134)caC>caT		SH2 domain containing 2A							53.0	53.0	53.0					1																	156777036		2203	4300	6503	SO:0001819	synonymous_variant	9047				angiogenesis|cell differentiation|signal transduction	cytoplasm|soluble fraction	SH3 domain binding|SH3/SH2 adaptor activity	g.chr1:156777036G>A	AJ000553	CCDS1159.1, CCDS53380.1, CCDS53381.1	1q21	2013-02-14	2010-04-21		ENSG00000027869	ENSG00000027869		"""SH2 domain containing"""	10821	protein-coding gene	gene with protein product	"""T lymphocyte specific adaptor protein"", ""T cell specific adapter protein TSAd"", ""T cell specific adpater protein TSAd"""	604514	"""SH2 domain protein 2A"""			9468509	Standard	NM_003975		Approved	TSAd, F2771	uc009wsh.2	Q9NP31	OTTHUMG00000041305	ENST00000368199.3:c.1104C>T	1.37:g.156777036G>A						SH2D2A_ENST00000368199.3_Silent_p.H368H|SH2D2A_ENST00000368198.3_Silent_p.H350H	p.H378H	NM_001161441.1	NP_001154913.1	Q9NP31	SH22A_HUMAN			8	1273	-	all_hematologic(923;0.0839)|Hepatocellular(266;0.158)		368			Pro-rich.		O43817|Q5UBZ1|Q5VZS4|Q5VZS5|Q9UPA7	Silent	SNP	ENST00000368199.3	37	c.1134C>T	CCDS1159.1																																																																																				0.592	SH2D2A-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000098982.1	NM_003975		23	49	0	0	0	1	0	23	49				
MYCBPAP	84073	broad.mit.edu	37	17	48603302	48603302	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:48603302C>A	ENST00000323776.5	+	14	2134	c.1972C>A	c.(1972-1974)Ctg>Atg	p.L658M	MYCBPAP_ENST00000436259.2_Missense_Mutation_p.L621M	NM_032133.4	NP_115509.4			MYCBP associated protein											breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31	Breast(11;1.23e-18)		BRCA - Breast invasive adenocarcinoma(22;1.23e-09)			GTACATGACCCTGCCCGCCAA	0.607																																						ENST00000323776.5																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(8)|lung(8)|ovary(4)|pancreas(1)|skin(2)|urinary_tract(2)	31						c.(1972-1974)Ctg>Atg		MYCBP associated protein							92.0	80.0	84.0					17																	48603302		2203	4300	6503	SO:0001583	missense	84073				cell differentiation|multicellular organismal development|spermatogenesis|synaptic transmission	cytoplasm|membrane	protein binding	g.chr17:48603302C>A	BC028393	CCDS32680.2	17q21.33	2004-02-19			ENSG00000136449	ENSG00000136449			19677	protein-coding gene	gene with protein product		609835				12151104	Standard	NM_032133		Approved	AMAP-1, DKFZp434N1415	uc010wmr.2	Q8TBZ2	OTTHUMG00000157184	ENST00000323776.5:c.1972C>A	17.37:g.48603302C>A	ENSP00000323184:p.Leu658Met					MYCBPAP_ENST00000436259.2_Missense_Mutation_p.L621M	p.L658M	NM_032133.4	NP_115509.4	Q8TBZ2	MYBPP_HUMAN	BRCA - Breast invasive adenocarcinoma(22;1.23e-09)		14	2134	+	Breast(11;1.23e-18)		621						Missense_Mutation	SNP	ENST00000323776.5	37	c.1972C>A	CCDS32680.2	.	.	.	.	.	.	.	.	.	.	C	12.88	2.069988	0.36566	.	.	ENSG00000136449	ENST00000323776;ENST00000436259	T;T	0.23754	1.89;1.89	5.71	2.66	0.31614	.	1.229190	0.05679	N	0.590035	T	0.34948	0.0915	L	0.57536	1.79	0.09310	N	1	D	0.54964	0.969	P	0.50970	0.655	T	0.11991	-1.0565	10	0.34782	T	0.22	0.1829	6.2254	0.20706	0.1219:0.5464:0.2612:0.0705	.	621	Q8TBZ2	MYBPP_HUMAN	M	658;621	ENSP00000323184:L658M;ENSP00000397209:L621M	ENSP00000323184:L658M	L	+	1	2	MYCBPAP	45958301	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	-1.480000	0.02325	0.360000	0.24265	-0.868000	0.02995	CTG		0.607	MYCBPAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000347814.1	NM_032133		8	146	1	0	0.000157383	1	0.000161324	8	146				
GRIK2	2898	broad.mit.edu	37	6	102483287	102483287	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr6:102483287A>C	ENST00000421544.1	+	14	2647	c.2157A>C	c.(2155-2157)aaA>aaC	p.K719N	GRIK2_ENST00000318991.6_Missense_Mutation_p.K719N|GRIK2_ENST00000413795.1_Missense_Mutation_p.K719N|GRIK2_ENST00000369138.1_Missense_Mutation_p.K719N|GRIK2_ENST00000369137.3_Missense_Mutation_p.K643N|GRIK2_ENST00000369134.4_Missense_Mutation_p.K670N	NM_021956.4	NP_068775.1	Q13002	GRIK2_HUMAN	glutamate receptor, ionotropic, kainate 2	719					behavioral fear response (GO:0001662)|cellular calcium ion homeostasis (GO:0006874)|glutamate receptor signaling pathway (GO:0007215)|intracellular protein transport (GO:0006886)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of synaptic transmission, glutamatergic (GO:0051967)|neuronal action potential (GO:0019228)|positive regulation of synaptic transmission (GO:0050806)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of inhibitory postsynaptic membrane potential (GO:0060080)|regulation of long-term neuronal synaptic plasticity (GO:0048169)|regulation of short-term neuronal synaptic plasticity (GO:0048172)|regulation of synaptic transmission (GO:0050804)|synaptic transmission (GO:0007268)|synaptic transmission, glutamatergic (GO:0035249)|transport (GO:0006810)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|kainate selective glutamate receptor complex (GO:0032983)|neuronal cell body (GO:0043025)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|presynaptic membrane (GO:0042734)	extracellular-glutamate-gated ion channel activity (GO:0005234)|kainate selective glutamate receptor activity (GO:0015277)			NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	Amobarbital(DB01351)|Aprobarbital(DB01352)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Methylphenobarbital(DB00849)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Primidone(DB00794)|Secobarbital(DB00418)|Talbutal(DB00306)|Thiopental(DB00599)	TGCTGGTCAAAAGTAATGAAG	0.418																																						ENST00000369138.1																			0				NS(1)|breast(3)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(18)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(1)	83						c.(2155-2157)aaA>aaC		glutamate receptor, ionotropic, kainate 2	L-Glutamic Acid(DB00142)						136.0	134.0	134.0					6																	102483287		2203	4299	6502	SO:0001583	missense	2898				glutamate signaling pathway|induction of programmed cell death in response to chemical stimulus|neuron apoptosis|positive regulation of synaptic transmission|regulation of short-term neuronal synaptic plasticity	cell junction|postsynaptic membrane	extracellular-glutamate-gated ion channel activity|kainate selective glutamate receptor activity	g.chr6:102483287A>C		CCDS5048.1, CCDS5049.1, CCDS55045.1	6q16.3	2012-08-29			ENSG00000164418	ENSG00000164418		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	4580	protein-coding gene	gene with protein product		138244		GLUR6		8034316	Standard	NM_021956		Approved	GluK2, MRT6	uc003pqp.4	Q13002	OTTHUMG00000016328	ENST00000421544.1:c.2157A>C	6.37:g.102483287A>C	ENSP00000397026:p.Lys719Asn					GRIK2_ENST00000318991.6_Missense_Mutation_p.K719N|GRIK2_ENST00000369137.3_Missense_Mutation_p.K643N|GRIK2_ENST00000413795.1_Missense_Mutation_p.K719N|GRIK2_ENST00000369134.4_Missense_Mutation_p.K670N|GRIK2_ENST00000421544.1_Missense_Mutation_p.K719N	p.K719N	NM_001166247.1	NP_001159719.1	Q13002	GRIK2_HUMAN		all cancers(137;0.112)|BRCA - Breast invasive adenocarcinoma(108;0.124)|GBM - Glioblastoma multiforme(226;0.206)	14	2647	+		all_cancers(76;1.19e-07)|Acute lymphoblastic leukemia(125;6.17e-11)|all_hematologic(75;6.01e-08)|all_epithelial(87;0.0121)|Colorectal(196;0.14)	719					A6NMY9|B5MCV0|D7RWZ3|D7RWZ4|D7RWZ5|D7RWZ6|D7RWZ7|Q8WWS1|Q96KS6|Q96KS7|Q96KS8	Missense_Mutation	SNP	ENST00000421544.1	37	c.2157A>C	CCDS5048.1	.	.	.	.	.	.	.	.	.	.	A	15.76	2.929746	0.52759	.	.	ENSG00000164418	ENST00000421544;ENST00000413795;ENST00000369138;ENST00000369137;ENST00000318991;ENST00000369134;ENST00000540076	T;T;T;T;T;T	0.11385	2.78;2.78;2.78;2.78;2.78;2.78	5.46	2.85	0.33270	Ionotropic glutamate receptor (2);	0.000000	0.85682	D	0.000000	T	0.03178	0.0093	N	0.26042	0.785	0.42611	D	0.993318	B;B;B	0.11235	0.004;0.002;0.004	B;B;B	0.16289	0.014;0.015;0.009	T	0.28996	-1.0026	10	0.66056	D	0.02	.	10.8073	0.46524	0.9096:0.0:0.0904:0.0	.	719;719;719	Q13002-5;Q13002;Q13002-2	.;GRIK2_HUMAN;.	N	719;719;719;643;719;670;494	ENSP00000397026:K719N;ENSP00000405596:K719N;ENSP00000358134:K719N;ENSP00000358133:K643N;ENSP00000313276:K719N;ENSP00000358130:K670N	ENSP00000313276:K719N	K	+	3	2	GRIK2	102589980	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.008000	0.63991	0.279000	0.22186	0.533000	0.62120	AAA		0.418	GRIK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043718.1			32	103	0	0	0	1	0	32	103				
GPR31	2853	broad.mit.edu	37	6	167570658	167570658	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr6:167570658T>C	ENST00000366834.1	-	1	1159	c.662A>G	c.(661-663)cAg>cGg	p.Q221R		NM_005299.2	NP_005290.2	O00270	GPR31_HUMAN	G protein-coupled receptor 31	221					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			NS(1)|endometrium(4)|large_intestine(4)|lung(7)|prostate(1)	17		Breast(66;1.53e-05)|Ovarian(120;0.0606)		OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492)		GACCAGTGCCTGGGCCCGCTG	0.582																																						ENST00000366834.1																			0				NS(1)|endometrium(4)|large_intestine(4)|lung(7)|prostate(1)	17						c.(661-663)cAg>cGg		G protein-coupled receptor 31							68.0	77.0	74.0					6																	167570658		2203	4300	6503	SO:0001583	missense	2853					integral to plasma membrane	G-protein coupled receptor activity	g.chr6:167570658T>C	U65402	CCDS5299.1	6q27	2012-08-21				ENSG00000120436		"""GPCR / Class A : Orphans"""	4486	protein-coding gene	gene with protein product	"""hydroxyeicosatetraenoic (HETE) acid receptor 1"", ""12-(S)-HETE acid receptor"""	602043				9205127, 21712392	Standard	NM_005299		Approved	HETER1, 12-HETER	uc011egq.2	O00270		ENST00000366834.1:c.662A>G	6.37:g.167570658T>C	ENSP00000355799:p.Gln221Arg						p.Q221R	NM_005299.2	NP_005290.2	O00270	GPR31_HUMAN		OV - Ovarian serous cystadenocarcinoma(33;4.81e-20)|BRCA - Breast invasive adenocarcinoma(81;4.45e-06)|GBM - Glioblastoma multiforme(31;0.00492)	1	1159	-		Breast(66;1.53e-05)|Ovarian(120;0.0606)	221					B0M0K2|Q4VBL3|Q9NQ20	Missense_Mutation	SNP	ENST00000366834.1	37	c.662A>G	CCDS5299.1	.	.	.	.	.	.	.	.	.	.	T	0.829	-0.745866	0.03065	.	.	ENSG00000120436	ENST00000366834	T	0.71579	-0.58	3.58	-6.89	0.01660	GPCR, rhodopsin-like superfamily (1);	1.864690	0.04122	N	0.316463	T	0.19805	0.0476	N	0.01729	-0.75	0.09310	N	1	B	0.06786	0.001	B	0.04013	0.001	T	0.30031	-0.9992	10	0.52906	T	0.07	-11.5024	9.1316	0.36848	0.1551:0.7182:0.0:0.1267	.	221	O00270	GPR31_HUMAN	R	221	ENSP00000355799:Q221R	ENSP00000355799:Q221R	Q	-	2	0	GPR31	167490648	0.000000	0.05858	0.460000	0.27093	0.504000	0.33889	-0.692000	0.05127	-1.107000	0.03004	0.165000	0.16767	CAG		0.582	GPR31-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043111.1	NM_005299		38	63	0	0	0	1	0	38	63				
TOP2A	7153	broad.mit.edu	37	17	38569176	38569176	+	Silent	SNP	G	G	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:38569176G>T	ENST00000423485.1	-	7	782	c.624C>A	c.(622-624)ccC>ccA	p.P208P		NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	topoisomerase (DNA) II alpha 170kDa	208					apoptotic chromosome condensation (GO:0030263)|ATP catabolic process (GO:0006200)|cellular response to DNA damage stimulus (GO:0006974)|chromosome segregation (GO:0007059)|DNA ligation (GO:0006266)|DNA topological change (GO:0006265)|DNA unwinding involved in DNA replication (GO:0006268)|embryonic cleavage (GO:0040016)|hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cell cycle (GO:0000278)|mitotic DNA integrity checkpoint (GO:0044774)|mitotic recombination (GO:0006312)|positive regulation of apoptotic process (GO:0043065)|positive regulation of single stranded viral RNA replication via double stranded DNA intermediate (GO:0045870)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral genome replication (GO:0045070)|resolution of meiotic recombination intermediates (GO:0000712)|sister chromatid segregation (GO:0000819)	condensed chromosome (GO:0000793)|cytoplasm (GO:0005737)|DNA topoisomerase complex (ATP-hydrolyzing) (GO:0009330)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein complex (GO:0043234)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA binding, bending (GO:0008301)|DNA topoisomerase type II (ATP-hydrolyzing) activity (GO:0003918)|DNA-dependent ATPase activity (GO:0008094)|drug binding (GO:0008144)|enzyme binding (GO:0019899)|histone deacetylase binding (GO:0042826)|magnesium ion binding (GO:0000287)|poly(A) RNA binding (GO:0044822)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|protein kinase C binding (GO:0005080)|ubiquitin binding (GO:0043130)			breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39		Breast(137;0.00328)	STAD - Stomach adenocarcinoma(5;0.00183)		Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dactinomycin(DB00970)|Daunorubicin(DB00694)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)	CTCCATTGAAGGGCTTGAGTT	0.373																																						ENST00000423485.1																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(8)|lung(9)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	39						c.(622-624)ccC>ccA		topoisomerase (DNA) II alpha 170kDa	Amsacrine(DB00276)|Ciprofloxacin(DB00537)|Dexrazoxane(DB00380)|Doxorubicin(DB00997)|Enoxacin(DB00467)|Epirubicin(DB00445)|Etoposide(DB00773)|Fleroxacin(DB04576)|Gatifloxacin(DB01044)|Idarubicin(DB01177)|Levofloxacin(DB01137)|Lomefloxacin(DB00978)|Lucanthone(DB04967)|Mitoxantrone(DB01204)|Moxifloxacin(DB00218)|Norfloxacin(DB01059)|Ofloxacin(DB01165)|Pefloxacin(DB00487)|Podofilox(DB01179)|Sparfloxacin(DB01208)|Teniposide(DB00444)|Trovafloxacin(DB00685)|Valrubicin(DB00385)						79.0	70.0	73.0					17																	38569176		1861	4098	5959	SO:0001819	synonymous_variant	7153				apoptotic chromosome condensation|DNA ligation|DNA repair|DNA topological change|DNA-dependent DNA replication|mitotic cell cycle G2/M transition decatenation checkpoint|mitotic recombination|phosphatidylinositol-mediated signaling|positive regulation of apoptosis|positive regulation of retroviral genome replication|resolution of meiotic recombination intermediates|sister chromatid segregation	cytoplasm|DNA topoisomerase complex (ATP-hydrolyzing)|nucleolus|nucleoplasm|synaptonemal complex	ATP binding|chromatin binding|DNA topoisomerase (ATP-hydrolyzing) activity|DNA-dependent ATPase activity|drug binding|histone deacetylase binding|protein C-terminus binding|protein heterodimerization activity|protein homodimerization activity|protein kinase C binding|sequence-specific DNA binding transcription factor activity|ubiquitin binding	g.chr17:38569176G>T		CCDS45672.1	17q21-q22	2008-08-06	2002-08-29		ENSG00000131747	ENSG00000131747	5.99.1.2		11989	protein-coding gene	gene with protein product		126430	"""topoisomerase (DNA) II alpha (170kD)"""	TOP2			Standard	NM_001067		Approved		uc002huq.3	P11388	OTTHUMG00000155008	ENST00000423485.1:c.624C>A	17.37:g.38569176G>T							p.P208P	NM_001067.3	NP_001058.2	P11388	TOP2A_HUMAN	STAD - Stomach adenocarcinoma(5;0.00183)		7	782	-		Breast(137;0.00328)	208					B2RTS1|Q71UN1|Q71UQ5|Q9HB24|Q9HB25|Q9HB26|Q9UP44|Q9UQP9	Silent	SNP	ENST00000423485.1	37	c.624C>A	CCDS45672.1																																																																																				0.373	TOP2A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000338035.1			8	24	1	0	0.000274275	1	0.000279742	8	24				
ATP2B4	493	broad.mit.edu	37	1	203708958	203708958	+	Silent	SNP	A	A	G			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:203708958A>G	ENST00000357681.5	+	21	4717	c.3594A>G	c.(3592-3594)ctA>ctG	p.L1198L	ATP2B4_ENST00000341360.2_3'UTR|ATP2B4_ENST00000367218.3_3'UTR|ATP2B4_ENST00000367219.3_3'UTR|ATP2B4_ENST00000391954.2_3'UTR	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	ATPase, Ca++ transporting, plasma membrane 4	1234					blood coagulation (GO:0007596)|calcium ion homeostasis (GO:0055074)|calcium ion import across plasma membrane (GO:0098703)|calcium ion transmembrane transport (GO:0070588)|cellular calcium ion homeostasis (GO:0006874)|cellular response to epinephrine stimulus (GO:0071872)|ion transmembrane transport (GO:0034220)|negative regulation of adrenergic receptor signaling pathway involved in heart process (GO:1901205)|negative regulation of arginine catabolic process (GO:1900082)|negative regulation of calcineurin-NFAT signaling cascade (GO:0070885)|negative regulation of cardiac muscle hypertrophy in response to stress (GO:1903243)|negative regulation of citrulline biosynthetic process (GO:1903249)|negative regulation of nitric oxide biosynthetic process (GO:0045019)|negative regulation of nitric oxide mediated signal transduction (GO:0010751)|negative regulation of nitric-oxide synthase activity (GO:0051001)|negative regulation of peptidyl-cysteine S-nitrosylation (GO:1902083)|negative regulation of the force of heart contraction (GO:0098736)|positive regulation of cAMP-dependent protein kinase activity (GO:2000481)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|response to hydrostatic pressure (GO:0051599)|transmembrane transport (GO:0055085)	caveola (GO:0005901)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)|protein complex (GO:0043234)|T-tubule (GO:0030315)|Z disc (GO:0030018)	ATP binding (GO:0005524)|calcium-transporting ATPase activity (GO:0005388)|calmodulin binding (GO:0005516)|metal ion binding (GO:0046872)|nitric-oxide synthase binding (GO:0050998)|protein phosphatase 2B binding (GO:0030346)|scaffold protein binding (GO:0097110)			NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56	all_cancers(21;0.071)|all_epithelial(62;0.228)		BRCA - Breast invasive adenocarcinoma(75;0.109)			ACAGCTCTCTACAGAGCCTAG	0.468																																						ENST00000357681.5																			0				NS(1)|breast(1)|central_nervous_system(2)|cervix(2)|endometrium(5)|kidney(2)|large_intestine(10)|lung(20)|ovary(2)|prostate(6)|skin(1)|stomach(1)|urinary_tract(3)	56						c.(3592-3594)ctA>ctG		ATPase, Ca++ transporting, plasma membrane 4							79.0	78.0	79.0					1																	203708958		2203	4300	6503	SO:0001819	synonymous_variant	493				ATP biosynthetic process|platelet activation	integral to plasma membrane	ATP binding|calcium-transporting ATPase activity|calmodulin binding|metal ion binding|protein binding	g.chr1:203708958A>G	M25874	CCDS1440.1, CCDS30977.1	1q32.1	2010-04-20	2005-05-26		ENSG00000058668	ENSG00000058668	3.6.3.8	"""ATPases / P-type"""	817	protein-coding gene	gene with protein product	"""plasma membrane calcium-transporting ATPase 4"""	108732	"""matrix-remodelling associated 1"""	ATP2B2, MXRA1		1674727	Standard	NM_001001396		Approved	PMCA4	uc001gzw.3	P23634	OTTHUMG00000035906	ENST00000357681.5:c.3594A>G	1.37:g.203708958A>G						ATP2B4_ENST00000391954.2_3'UTR|ATP2B4_ENST00000341360.2_3'UTR|ATP2B4_ENST00000367219.3_3'UTR|ATP2B4_ENST00000367218.3_3'UTR	p.L1198L	NM_001684.4	NP_001675.3	P23634	AT2B4_HUMAN	BRCA - Breast invasive adenocarcinoma(75;0.109)		21	4717	+	all_cancers(21;0.071)|all_epithelial(62;0.228)		1234					B1APW5|B1APW6|Q13450|Q13452|Q13455|Q16817|Q7Z3S1	Silent	SNP	ENST00000357681.5	37	c.3594A>G	CCDS1440.1																																																																																				0.468	ATP2B4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087462.1	NM_001001396		13	47	0	0	0	1	0	13	47				
ANK1	286	broad.mit.edu	37	8	41519418	41519418	+	Silent	SNP	G	G	A	rs116148295	byFrequency	TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr8:41519418G>A	ENST00000347528.4	-	41	5603	c.5520C>T	c.(5518-5520)gcC>gcT	p.A1840A	ANK1_ENST00000522543.1_Silent_p.A115A|ANK1_ENST00000396945.1_Intron|ANK1_ENST00000457297.1_Intron|RP11-930P14.1_ENST00000585088.1_RNA|ANK1_ENST00000265709.8_Silent_p.A1881A|ANK1_ENST00000289734.7_Silent_p.A1840A|ANK1_ENST00000379758.2_Intron|RP11-930P14.1_ENST00000520418.1_RNA|ANK1_ENST00000396942.1_Silent_p.A1840A|ANK1_ENST00000522231.1_Silent_p.A115A|RP11-930P14.1_ENST00000522388.1_RNA|MIR486_ENST00000408108.1_RNA|ANK1_ENST00000352337.4_Intron|ANK1_ENST00000314214.8_Silent_p.A115A	NM_020475.2|NM_020476.2|NM_020477.2	NP_065208.2|NP_065209.2|NP_065210.2	P16157	ANK1_HUMAN	ankyrin 1, erythrocytic	1840	55 kDa regulatory domain.				axon guidance (GO:0007411)|cytoskeleton organization (GO:0007010)|ER to Golgi vesicle-mediated transport (GO:0006888)|erythrocyte development (GO:0048821)|exocytosis (GO:0006887)|maintenance of epithelial cell apical/basal polarity (GO:0045199)|monovalent inorganic cation transport (GO:0015672)|porphyrin-containing compound biosynthetic process (GO:0006779)|positive regulation of organelle organization (GO:0010638)|protein targeting to plasma membrane (GO:0072661)|signal transduction (GO:0007165)	axolemma (GO:0030673)|basolateral plasma membrane (GO:0016323)|cortical cytoskeleton (GO:0030863)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|M band (GO:0031430)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|sarcolemma (GO:0042383)|sarcoplasmic reticulum (GO:0016529)|spectrin-associated cytoskeleton (GO:0014731)|Z disc (GO:0030018)	ATPase binding (GO:0051117)|cytoskeletal adaptor activity (GO:0008093)|enzyme binding (GO:0019899)|spectrin binding (GO:0030507)|structural constituent of cytoskeleton (GO:0005200)|structural molecule activity (GO:0005198)			breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)			GGGCGGCATCGGCGCTGGACA	0.572													G|||	3	0.000599042	0.0015	0.0	5008	,	,		16559	0.001		0.0	False		,,,				2504	0.0					ENST00000396942.1																			0				breast(5)|central_nervous_system(4)|endometrium(9)|kidney(1)|large_intestine(26)|lung(62)|ovary(3)|prostate(5)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	122						c.(5518-5520)gcC>gcT		ankyrin 1, erythrocytic							49.0	53.0	51.0					8																	41519418		2203	4300	6503	SO:0001819	synonymous_variant	286				axon guidance|cytoskeleton organization|exocytosis|maintenance of epithelial cell apical/basal polarity|signal transduction	basolateral plasma membrane|cytosol|sarcomere|sarcoplasmic reticulum|spectrin-associated cytoskeleton	cytoskeletal adaptor activity|enzyme binding|protein binding|spectrin binding|structural constituent of cytoskeleton	g.chr8:41519418G>A	M28880	CCDS6119.1, CCDS6121.1, CCDS6122.1, CCDS47849.1, CCDS55227.1	8p11.21	2013-01-10			ENSG00000029534	ENSG00000029534		"""Ankyrin repeat domain containing"""	492	protein-coding gene	gene with protein product		612641		ANK		1689849	Standard	NM_001142445		Approved	SPH1	uc003xom.3	P16157	OTTHUMG00000150281	ENST00000347528.4:c.5520C>T	8.37:g.41519418G>A						RP11-930P14.1_ENST00000520418.1_RNA|ANK1_ENST00000457297.1_Intron|ANK1_ENST00000379758.2_Intron|RP11-930P14.1_ENST00000585088.1_RNA|ANK1_ENST00000347528.4_Silent_p.A1840A|RP11-930P14.1_ENST00000522388.1_RNA|ANK1_ENST00000289734.7_Silent_p.A1840A|ANK1_ENST00000265709.8_Silent_p.A1881A|ANK1_ENST00000396945.1_Intron|ANK1_ENST00000314214.8_Silent_p.A115A|ANK1_ENST00000522543.1_Silent_p.A115A|ANK1_ENST00000522231.1_Silent_p.A115A|ANK1_ENST00000352337.4_Intron	p.A1840A			P16157	ANK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(14;0.000984)|Lung(22;0.00108)|Colorectal(10;0.00245)|LUSC - Lung squamous cell carcinoma(45;0.00392)|COAD - Colon adenocarcinoma(11;0.0264)		41	5603	-	Ovarian(28;0.00541)|Colorectal(14;0.0398)|Lung SC(25;0.211)	all_lung(54;0.000626)|Lung NSC(58;0.00245)|Esophageal squamous(32;0.0559)|Hepatocellular(245;0.0663)|Renal(179;0.188)	1840			55 kDa regulatory domain.		A0PJN8|A6NJ23|E5RFL7|O43400|Q13768|Q53ER1|Q59FP2|Q8N604|Q99407	Silent	SNP	ENST00000347528.4	37	c.5520C>T	CCDS6119.1	2	9.157509157509158E-4	1	0.0020325203252032522	0	0.0	1	0.0017482517482517483	0	0.0	G	0.174	-1.068682	0.01934	.	.	ENSG00000029534	ENST00000520299	.	.	.	4.87	-2.61	0.06171	.	.	.	.	.	.	.	.	.	.	.	0.09310	N	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	7.8796	0.29614	0.4976:0.115:0.3874:0.0	.	.	.	.	X	1000	.	.	R	-	1	2	ANK1	41638575	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.318000	0.08050	-0.561000	0.06094	-0.258000	0.10820	CGA		0.572	ANK1-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317297.1	NM_020475		28	47	0	0	0	1	0	28	47				
PNKP	11284	broad.mit.edu	37	19	50364513	50364513	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:50364513C>T	ENST00000322344.3	-	17	1667	c.1558G>A	c.(1558-1560)Gag>Aag	p.E520K	PNKP_ENST00000596014.1_Missense_Mutation_p.E520K|AC018766.4_ENST00000596624.1_RNA|AC018766.5_ENST00000601893.1_RNA|AC018766.5_ENST00000593654.1_RNA|PNKP_ENST00000600573.1_Missense_Mutation_p.E489K|AC018766.5_ENST00000599259.1_RNA|PNKP_ENST00000600910.1_3'UTR	NM_007254.3	NP_009185.2	Q96T60	PNKP_HUMAN	polynucleotide kinase 3'-phosphatase	520					dephosphorylation (GO:0016311)|DNA damage response, detection of DNA damage (GO:0042769)|DNA repair (GO:0006281)|DNA-dependent DNA replication (GO:0006261)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleotide phosphorylation (GO:0046939)|nucleotide-excision repair, DNA damage removal (GO:0000718)|polynucleotide 3' dephosphorylation (GO:0098506)|response to oxidative stress (GO:0006979)|response to radiation (GO:0009314)	membrane (GO:0016020)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity (GO:0046404)|damaged DNA binding (GO:0003684)|double-stranded DNA binding (GO:0003690)|endonuclease activity (GO:0004519)|nucleotide kinase activity (GO:0019201)|polynucleotide 3'-phosphatase activity (GO:0046403)|purine nucleotide binding (GO:0017076)			breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)		GCTCAGCCCTCGGAGAACTGG	0.652								Other BER factors																														ENST00000322344.3																			0				breast(1)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(10)|ovary(1)|urinary_tract(1)	19						c.(1558-1560)Gag>Aag	Other BER factors	polynucleotide kinase 3'-phosphatase							45.0	50.0	48.0					19																	50364513		2203	4300	6503	SO:0001583	missense	11284				DNA damage response, detection of DNA damage|DNA-dependent DNA replication|nucleotide-excision repair, DNA damage removal|response to oxidative stress|response to radiation	nucleolus	ATP binding|ATP-dependent polydeoxyribonucleotide 5'-hydroxyl-kinase activity|damaged DNA binding|double-stranded DNA binding|endonuclease activity|nucleotide kinase activity|polynucleotide 3'-phosphatase activity|protein binding	g.chr19:50364513C>T	AF126486	CCDS12783.1	19q13.3-q13.4	2008-02-05				ENSG00000039650			9154	protein-coding gene	gene with protein product		605610				10446192, 10446193	Standard	NM_007254		Approved	PNK	uc002pqj.3	Q96T60		ENST00000322344.3:c.1558G>A	19.37:g.50364513C>T	ENSP00000323511:p.Glu520Lys					PNKP_ENST00000600573.1_Missense_Mutation_p.E489K|PNKP_ENST00000596014.1_Missense_Mutation_p.E520K|PNKP_ENST00000600910.1_3'UTR	p.E520K	NM_007254.3	NP_009185.2	Q96T60	PNKP_HUMAN		GBM - Glioblastoma multiforme(134;0.0118)|OV - Ovarian serous cystadenocarcinoma(262;0.0134)	17	1667	-		all_lung(116;1.05e-05)|Lung NSC(112;3.77e-05)|all_neural(266;0.107)|Ovarian(192;0.231)	520					Q9BUL2|Q9P1V2|Q9UKU8|Q9UNF8|Q9UNI0	Missense_Mutation	SNP	ENST00000322344.3	37	c.1558G>A	CCDS12783.1	.	.	.	.	.	.	.	.	.	.	c	21.2	4.120129	0.77323	.	.	ENSG00000039650	ENST00000322344	T	0.51325	0.71	4.68	4.68	0.58851	.	0.000000	0.64402	U	0.000008	T	0.23289	0.0563	N	0.08118	0	0.53688	D	0.999974	P;P	0.39311	0.667;0.496	B;B	0.23018	0.026;0.043	T	0.24835	-1.0149	10	0.72032	D	0.01	-25.3059	13.0817	0.59117	0.0:1.0:0.0:0.0	.	481;520	Q9BUL2;Q96T60	.;PNKP_HUMAN	K	520	ENSP00000323511:E520K	ENSP00000323511:E520K	E	-	1	0	PNKP	55056325	1.000000	0.71417	0.959000	0.39883	0.936000	0.57629	5.633000	0.67825	2.158000	0.67659	0.461000	0.40582	GAG		0.652	PNKP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465830.1	NM_007254		47	97	0	0	0	1	0	47	97				
RP1L1	94137	broad.mit.edu	37	8	10470808	10470808	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr8:10470808G>A	ENST00000382483.3	-	4	1023	c.800C>T	c.(799-801)cCg>cTg	p.P267L		NM_178857.5	NP_849188.4	Q8IWN7	RP1L1_HUMAN	retinitis pigmentosa 1-like 1	267					cell projection organization (GO:0030030)|intracellular signal transduction (GO:0035556)|photoreceptor cell development (GO:0042461)|photoreceptor cell maintenance (GO:0045494)|visual perception (GO:0007601)	axoneme (GO:0005930)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|photoreceptor connecting cilium (GO:0032391)|photoreceptor outer segment (GO:0001750)				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148				COAD - Colon adenocarcinoma(149;0.0811)		GCTGCCTGGCGGAGACCGCGA	0.632																																						ENST00000382483.3																			0				breast(5)|central_nervous_system(2)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(16)|lung(82)|ovary(8)|prostate(5)|skin(6)|upper_aerodigestive_tract(4)|urinary_tract(3)	148						c.(799-801)cCg>cTg		retinitis pigmentosa 1-like 1							52.0	58.0	56.0					8																	10470808		1993	4180	6173	SO:0001583	missense	94137				intracellular signal transduction			g.chr8:10470808G>A	AY168346	CCDS43708.1	8p23.1	2011-12-06			ENSG00000183638	ENSG00000183638			15946	protein-coding gene	gene with protein product		608581				12634863	Standard	NM_178857		Approved	DCDC4B	uc003wtc.3	Q8IWN7	OTTHUMG00000163806	ENST00000382483.3:c.800C>T	8.37:g.10470808G>A	ENSP00000371923:p.Pro267Leu						p.P267L	NM_178857.5	NP_849188.4	A6NKC6	A6NKC6_HUMAN		COAD - Colon adenocarcinoma(149;0.0811)	4	1023	-			267					Q86SQ1|Q8IWN8|Q8IWN9|Q8IWP0|Q8IWP1|Q8IWP2	Missense_Mutation	SNP	ENST00000382483.3	37	c.800C>T	CCDS43708.1	.	.	.	.	.	.	.	.	.	.	G	9.265	1.044259	0.19748	.	.	ENSG00000183638	ENST00000382483	T	0.04083	3.71	5.35	-1.03	0.10102	.	0.911244	0.08928	U	0.873367	T	0.02012	0.0063	N	0.08118	0	0.09310	N	1	P	0.36125	0.538	B	0.28139	0.086	T	0.44697	-0.9311	10	0.08381	T	0.77	-4.7184	9.5001	0.39013	0.0:0.1434:0.6138:0.2429	.	267	A6NKC6	.	L	267	ENSP00000371923:P267L	ENSP00000371923:P267L	P	-	2	0	RP1L1	10508218	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.237000	0.17985	-0.305000	0.08831	-0.997000	0.02515	CCG		0.632	RP1L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375673.1			36	71	0	0	0	1	0	36	71				
FAM105A	54491	broad.mit.edu	37	5	14601329	14601329	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr5:14601329G>T	ENST00000274217.3	+	3	352	c.232G>T	c.(232-234)Gga>Tga	p.G78*		NM_019018.2	NP_061891.1	Q9NUU6	F105A_HUMAN	family with sequence similarity 105, member A	78										large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11	Lung NSC(4;0.00592)					CAGGTGGATTGGATATCTGCA	0.308																																						ENST00000274217.3																			0				large_intestine(3)|lung(5)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(232-234)Gga>Tga		family with sequence similarity 105, member A							66.0	68.0	68.0					5																	14601329		2203	4300	6503	SO:0001587	stop_gained	54491							g.chr5:14601329G>T		CCDS3884.1	5p15.2	2014-02-24			ENSG00000145569	ENSG00000145569		"""OTU domain containing"""	25629	protein-coding gene	gene with protein product						12477932	Standard	NM_019018		Approved	FLJ11127, NET20	uc003jfj.3	Q9NUU6	OTTHUMG00000131056	ENST00000274217.3:c.232G>T	5.37:g.14601329G>T	ENSP00000274217:p.Gly78*						p.G78*	NM_019018.2	NP_061891.1	Q9NUU6	F105A_HUMAN			3	352	+	Lung NSC(4;0.00592)		78					Q53H50|Q9H037	Nonsense_Mutation	SNP	ENST00000274217.3	37	c.232G>T	CCDS3884.1	.	.	.	.	.	.	.	.	.	.	G	37	6.502203	0.97620	.	.	ENSG00000145569	ENST00000274217	.	.	.	5.35	5.35	0.76521	.	0.149392	0.46145	D	0.000301	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.36615	T	0.2	-26.3652	8.5961	0.33716	0.1307:0.0:0.8693:0.0	.	.	.	.	X	78	.	ENSP00000274217:G78X	G	+	1	0	FAM105A	14654329	1.000000	0.71417	0.996000	0.52242	0.997000	0.91878	3.122000	0.50446	2.655000	0.90218	0.655000	0.94253	GGA		0.308	FAM105A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253710.1	NM_019018		10	31	1	0	3.86212e-05	1	4.01922e-05	10	31				
ITPRIP	85450	broad.mit.edu	37	10	106074553	106074553	+	Silent	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr10:106074553C>T	ENST00000337478.1	-	2	1428	c.1257G>A	c.(1255-1257)caG>caA	p.Q419Q	ITPRIP_ENST00000278071.2_Silent_p.Q419Q|RP11-127L20.5_ENST00000472915.2_RNA|ITPRIP_ENST00000358187.2_Silent_p.Q419Q	NM_001272013.1	NP_001258942.1	Q8IWB1	IPRI_HUMAN	inositol 1,4,5-trisphosphate receptor interacting protein	419						membrane (GO:0016020)|plasma membrane (GO:0005886)				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						TCAGGCGGCTCTGCTTGGAGA	0.652																																						ENST00000278071.2																			0				breast(1)|endometrium(3)|large_intestine(5)|liver(1)|lung(9)|upper_aerodigestive_tract(1)	20						c.(1255-1257)caG>caA		inositol 1,4,5-trisphosphate receptor interacting protein							23.0	26.0	25.0					10																	106074553		2203	4299	6502	SO:0001819	synonymous_variant	85450					plasma membrane		g.chr10:106074553C>T	AB051541	CCDS7557.1	10q25.1	2011-04-28	2011-04-28	2008-08-11	ENSG00000148841	ENSG00000148841			29370	protein-coding gene	gene with protein product			"""KIAA1754"", ""inositol 1,4,5-triphosphate receptor interacting protein"""	KIAA1754		11214970, 16990268	Standard	NM_001272012		Approved	bA127L20.2, DANGER	uc001kye.4	Q8IWB1	OTTHUMG00000019003	ENST00000337478.1:c.1257G>A	10.37:g.106074553C>T						ITPRIP_ENST00000358187.2_Silent_p.Q419Q|ITPRIP_ENST00000337478.1_Silent_p.Q419Q	p.Q419Q	NM_033397.2	NP_203755.1	Q8IWB1	IPRI_HUMAN			3	1709	-			419					D3DRA5|Q5JU17|Q96MS8|Q9C0A9	Silent	SNP	ENST00000337478.1	37	c.1257G>A	CCDS7557.1																																																																																				0.652	ITPRIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050204.1	NM_033397		15	23	0	0	0	1	0	15	23				
MYO16	23026	broad.mit.edu	37	13	109779932	109779932	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr13:109779932C>G	ENST00000457511.2	+	19	2826	c.2555C>G	c.(2554-2556)cCg>cGg	p.P852R	MYO16_ENST00000357550.2_Intron|MYO16_ENST00000356711.2_Intron					myosin XVI											NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)			CCTCGTGTTCCGGGCTCGCGC	0.602																																						ENST00000457511.2																			0				NS(3)|breast(4)|central_nervous_system(2)|endometrium(10)|kidney(8)|large_intestine(27)|lung(51)|ovary(9)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	121						c.(2554-2556)cCg>cGg		myosin XVI							11.0	13.0	13.0					13																	109779932		2198	4290	6488	SO:0001583	missense	23026				cerebellum development|negative regulation of cell proliferation|negative regulation of S phase of mitotic cell cycle	myosin complex|nucleoplasm|perinuclear region of cytoplasm|plasma membrane	actin filament binding|ATP binding|motor activity	g.chr13:109779932C>G		CCDS32008.1, CCDS73598.1	13q33.3	2014-06-12			ENSG00000041515	ENSG00000041515		"""Myosins / Myosin superfamily : Class XVI"", ""Ankyrin repeat domain containing"""	29822	protein-coding gene	gene with protein product	"""neuronal tyrosine-phosphorylated phosphoinositide-3-kinase adaptor 3"", ""protein phosphatase 1, regulatory subunit 107"""	615479				11588169, 17029291, 21946561	Standard	NM_001198950		Approved	MYR8, KIAA0865, Myo16b, NYAP3, PPP1R107	uc001vqt.1	Q9Y6X6	OTTHUMG00000017333	ENST00000457511.2:c.2555C>G	13.37:g.109779932C>G	ENSP00000401633:p.Pro852Arg					MYO16_ENST00000356711.2_Intron|MYO16_ENST00000357550.2_Intron	p.P852R			Q9Y6X6	MYO16_HUMAN	BRCA - Breast invasive adenocarcinoma(86;0.19)|all cancers(43;0.201)		19	2826	+	all_lung(23;0.000332)|all_neural(89;0.00294)|Medulloblastoma(90;0.00596)|Lung NSC(43;0.00751)|Lung SC(71;0.104)		1827			Myosin head-like 2.			Missense_Mutation	SNP	ENST00000457511.2	37	c.2555C>G		.	.	.	.	.	.	.	.	.	.	C	0.205	-1.041459	0.02013	.	.	ENSG00000041515	ENST00000457511	D	0.89617	-2.54	4.25	-4.65	0.03339	.	.	.	.	.	T	0.73442	0.3587	.	.	.	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.57757	-0.7756	7	.	.	.	.	2.2189	0.03967	0.1741:0.4115:0.1746:0.2398	.	852	F8W883	.	R	852	ENSP00000401633:P852R	.	P	+	2	0	MYO16	108577933	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.853000	0.04303	-0.894000	0.03925	-0.499000	0.04595	CCG		0.602	MYO16-202	KNOWN	basic	protein_coding	protein_coding		NM_015011		5	15	0	0	0	1	0	5	15				
EGLN2	112398	broad.mit.edu	37	19	41312517	41312517	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:41312517C>A	ENST00000593726.1	+	2	1929	c.901C>A	c.(901-903)Ccc>Acc	p.P301T	RAB4B-EGLN2_ENST00000594136.1_3'UTR|EGLN2_ENST00000594140.1_Missense_Mutation_p.P19T|CTC-490E21.12_ENST00000601627.1_Intron|EGLN2_ENST00000406058.2_Missense_Mutation_p.P301T|EGLN2_ENST00000303961.4_Missense_Mutation_p.P301T			Q96KS0	EGLN2_HUMAN	egl-9 family hypoxia-inducible factor 2	301	Fe2OG dioxygenase. {ECO:0000255|PROSITE- ProRule:PRU00805}.				cell redox homeostasis (GO:0045454)|cellular response to hypoxia (GO:0071456)|intracellular estrogen receptor signaling pathway (GO:0030520)|peptidyl-proline hydroxylation to 4-hydroxy-L-proline (GO:0018401)|positive regulation of protein catabolic process (GO:0045732)|regulation of cell growth (GO:0001558)|regulation of neuron apoptotic process (GO:0043523)|regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061418)|response to hypoxia (GO:0001666)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ferrous iron binding (GO:0008198)|L-ascorbic acid binding (GO:0031418)|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors (GO:0016706)|oxygen sensor activity (GO:0019826)|peptidyl-proline 4-dioxygenase activity (GO:0031545)			breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10			LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		Vitamin C(DB00126)	CGTTGACAATCCCCACGGCGA	0.607											OREG0025478	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000593726.1																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(3)|ovary(2)	10						c.(901-903)Ccc>Acc		egl-9 family hypoxia-inducible factor 2	Vitamin C(DB00126)						140.0	103.0	116.0					19																	41312517		2203	4300	6503	SO:0001583	missense	112398				cell redox homeostasis|estrogen receptor signaling pathway|positive regulation of protein catabolic process|regulation of cell growth|response to hypoxia	cytoplasm|nucleus	ferrous iron binding|L-ascorbic acid binding|oxidoreductase activity, acting on paired donors, with incorporation or reduction of molecular oxygen, 2-oxoglutarate as one donor, and incorporation of one atom each of oxygen into both donors|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|oxygen sensor activity	g.chr19:41312517C>A	AJ310544	CCDS12567.1	19q13.2	2013-08-21	2013-08-21		ENSG00000269858	ENSG00000269858			14660	protein-coding gene	gene with protein product	"""HIF prolyl hydroxylase 1"""	606424	"""EGL nine (C.elegans) homolog 2"", ""egl nine homolog 2 (C. elegans)"""				Standard	NM_080732		Approved	PHD1, HIFPH1	uc002oph.3	Q96KS0		ENST00000593726.1:c.901C>A	19.37:g.41312517C>A	ENSP00000469686:p.Pro301Thr		OREG0025478	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	900	EGLN2_ENST00000594140.1_Missense_Mutation_p.P19T|RAB4B-EGLN2_ENST00000594136.1_3'UTR|CTC-490E21.12_ENST00000601627.1_Intron|EGLN2_ENST00000406058.2_Missense_Mutation_p.P301T|EGLN2_ENST00000303961.4_Missense_Mutation_p.P301T	p.P301T			Q96KS0	EGLN2_HUMAN	LUSC - Lung squamous cell carcinoma(20;0.000219)|Lung(22;0.000959)		2	1929	+			301			Fe2OG dioxygenase.		A8K5S0|Q8WWY4|Q9BV14	Missense_Mutation	SNP	ENST00000593726.1	37	c.901C>A	CCDS12567.1	.	.	.	.	.	.	.	.	.	.	C	25.0	4.588470	0.86851	.	.	ENSG00000171570	ENST00000303961;ENST00000406058	T;T	0.58358	0.34;0.34	5.0	5.0	0.66597	Oxoglutarate/iron-dependent oxygenase (2);Prolyl 4-hydroxylase, alpha subunit (1);	0.000000	0.85682	D	0.000000	T	0.76608	0.4011	M	0.88310	2.945	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.78038	-0.2360	10	0.37606	T	0.19	-11.3335	17.2313	0.86984	0.0:1.0:0.0:0.0	.	301	Q96KS0	EGLN2_HUMAN	T	301	ENSP00000307080:P301T;ENSP00000385253:P301T	ENSP00000307080:P301T	P	+	1	0	EGLN2	46004357	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.301000	0.78850	2.585000	0.87301	0.655000	0.94253	CCC		0.607	EGLN2-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463218.1			39	88	1	0	1.23713e-20	1	1.50415e-20	39	88				
PVRIG	79037	broad.mit.edu	37	7	99817998	99817998	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:99817998G>A	ENST00000317271.2	+	3	743	c.380G>A	c.(379-381)tGc>tAc	p.C127Y	GATS_ENST00000436886.2_Intron|AC005071.1_ENST00000410550.1_RNA|GATS_ENST00000543273.1_RNA	NM_024070.3	NP_076975.2	Q6DKI7	PVRIG_HUMAN	poliovirus receptor related immunoglobulin domain containing	127						integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)	11	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					AGCAGCCCCTGCGCCAACACC	0.682																																						ENST00000317271.2																			0				breast(1)|endometrium(3)|kidney(1)|lung(3)|prostate(1)|skin(2)	11						c.(379-381)tGc>tAc		poliovirus receptor related immunoglobulin domain containing							8.0	9.0	9.0					7																	99817998		2108	4075	6183	SO:0001583	missense	79037					integral to membrane		g.chr7:99817998G>A	BC001129	CCDS5690.1	7q22.1	2013-06-26			ENSG00000213413	ENSG00000213413			32190	protein-coding gene	gene with protein product						16926269	Standard	NM_024070		Approved	MGC2463, C7orf15	uc003uuf.1	Q6DKI7	OTTHUMG00000156798	ENST00000317271.2:c.380G>A	7.37:g.99817998G>A	ENSP00000316675:p.Cys127Tyr					GATS_ENST00000436886.2_Intron|GATS_ENST00000543273.1_RNA	p.C127Y	NM_024070.3	NP_076975.2	Q6DKI7	PVRIG_HUMAN			3	743	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		127					D6W5U9|Q9BVK3	Missense_Mutation	SNP	ENST00000317271.2	37	c.380G>A	CCDS5690.1	.	.	.	.	.	.	.	.	.	.	g	0.001	-3.376881	0.00015	.	.	ENSG00000213413	ENST00000317271	T	0.43294	0.95	2.78	-1.55	0.08558	.	.	.	.	.	T	0.14657	0.0354	N	0.08118	0	0.09310	N	1	B	0.11235	0.004	B	0.11329	0.006	T	0.27971	-1.0058	9	0.02654	T	1	.	2.5662	0.04784	0.258:0.0:0.3483:0.3938	.	127	Q6DKI7	PVRIG_HUMAN	Y	127	ENSP00000316675:C127Y	ENSP00000316675:C127Y	C	+	2	0	PVRIG	99655934	0.000000	0.05858	0.000000	0.03702	0.052000	0.14988	0.060000	0.14342	-0.384000	0.07845	-0.699000	0.03677	TGC		0.682	PVRIG-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345870.2	NM_024070		4	7	0	0	0	1	0	4	7				
RANBP2	5903	broad.mit.edu	37	2	109371714	109371714	+	Splice_Site	SNP	A	A	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:109371714A>C	ENST00000283195.6	+	17	2591	c.2465A>C	c.(2464-2466)aAg>aCg	p.K822T		NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN	RAN binding protein 2	822					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)|negative regulation of glucokinase activity (GO:0033132)|protein folding (GO:0006457)|protein import into nucleus (GO:0006606)|protein sumoylation (GO:0016925)|regulation of gluconeogenesis involved in cellular glucose homeostasis (GO:0090526)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytosol (GO:0005829)|membrane (GO:0016020)|mitochondrion (GO:0005739)|nuclear inclusion body (GO:0042405)|nuclear membrane (GO:0031965)|nuclear pore (GO:0005643)|nuclear pore nuclear basket (GO:0044615)	ligase activity (GO:0016874)|peptidyl-prolyl cis-trans isomerase activity (GO:0003755)|Ran GTPase binding (GO:0008536)|RNA binding (GO:0003723)|zinc ion binding (GO:0008270)		RANBP2/ALK(34)	NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						GAGGCCATTAAGGTAAGTCAC	0.378																																						ENST00000283195.6																		RANBP2/ALK(34)	0				NS(1)|biliary_tract(1)|breast(3)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(21)|large_intestine(19)|lung(51)|pancreas(1)|prostate(8)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(1)	129						c.e17+1		RAN binding protein 2							113.0	129.0	124.0					2																	109371714		2201	4295	6496	SO:0001630	splice_region_variant	5903				carbohydrate metabolic process|glucose transport|mitotic prometaphase|mRNA transport|protein folding|protein import into nucleus|regulation of glucose transport|transmembrane transport|viral reproduction	cytosol|nuclear pore	peptidyl-prolyl cis-trans isomerase activity|Ran GTPase binding|zinc ion binding	g.chr2:109371714A>C	D42063	CCDS2079.1	2q13	2013-11-14			ENSG00000153201	ENSG00000153201		"""Tetratricopeptide (TTC) repeat domain containing"""	9848	protein-coding gene	gene with protein product		601181	"""acute necrotizing encephalopathy 1 (autosomal dominant)"""	ANE1		7724562, 19118815	Standard	NM_006267		Approved	NUP358, ADANE	uc002tem.4	P49792	OTTHUMG00000130981	ENST00000283195.6:c.2466+1A>C	2.37:g.109371714A>C							p.K822_splice	NM_006267.4	NP_006258.3	P49792	RBP2_HUMAN			17	2591	+			822					Q13074|Q15280|Q53TE2|Q59FH7	Splice_Site	SNP	ENST00000283195.6	37	c.2466_splice	CCDS2079.1	.	.	.	.	.	.	.	.	.	.	a	16.56	3.157132	0.57259	.	.	ENSG00000153201	ENST00000409491;ENST00000283195	T	0.25414	1.8	5.8	5.8	0.92144	.	.	.	.	.	T	0.41419	0.1158	L	0.36672	1.1	0.41129	D	0.985873	D	0.89917	1.0	D	0.85130	0.997	T	0.11991	-1.0565	9	0.30854	T	0.27	-13.8389	16.1496	0.81605	1.0:0.0:0.0:0.0	.	822	P49792	RBP2_HUMAN	T	822	ENSP00000283195:K822T	ENSP00000283195:K822T	K	+	2	0	RANBP2	108738146	1.000000	0.71417	1.000000	0.80357	0.726000	0.41606	6.307000	0.72815	2.210000	0.71456	0.443000	0.29094	AAG		0.378	RANBP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253594.1	NM_006267	Missense_Mutation	9	208	0	0	0	1	0	9	208				
STRN3	29966	broad.mit.edu	37	14	31364640	31364640	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr14:31364640C>T	ENST00000357479.5	-	18	2567	c.2371G>A	c.(2371-2373)Gct>Act	p.A791T	STRN3_ENST00000355683.5_Missense_Mutation_p.A707T	NM_001083893.1	NP_001077362.1	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3	791					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to estradiol (GO:0032355)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		TTGGCAAGAGCATCAGCTCCT	0.388																																						ENST00000355683.5																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(2119-2121)Gct>Act		striatin, calmodulin binding protein 3							84.0	71.0	76.0					14																	31364640		2203	4300	6503	SO:0001583	missense	29966				negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity	g.chr14:31364640C>T		CCDS9641.1, CCDS41938.1	14q13-q21	2013-01-10			ENSG00000196792	ENSG00000196792		"""WD repeat domain containing"""	15720	protein-coding gene	gene with protein product	"""cell cycle S/G2 nuclear autoantigen"""	614766				7864889, 10681496	Standard	NM_014574		Approved	SG2NA	uc001wqu.2	Q13033	OTTHUMG00000140201	ENST00000357479.5:c.2371G>A	14.37:g.31364640C>T	ENSP00000350071:p.Ala791Thr					STRN3_ENST00000357479.5_Missense_Mutation_p.A791T	p.A707T	NM_014574.3	NP_055389.3	Q13033	STRN3_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)	16	2334	-	Hepatocellular(127;0.0877)|Breast(36;0.148)		791					A2RTX7|A6NHZ7|Q9NRA5	Missense_Mutation	SNP	ENST00000357479.5	37	c.2119G>A	CCDS41938.1	.	.	.	.	.	.	.	.	.	.	C	32	5.191385	0.94923	.	.	ENSG00000196792	ENST00000355683;ENST00000357479	T;T	0.81078	-1.45;-1.45	5.51	5.51	0.81932	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.88837	0.6545	M	0.62723	1.935	0.80722	D	1	D;D	0.63880	0.97;0.993	P;D	0.74674	0.852;0.984	D	0.89420	0.3709	10	0.87932	D	0	-10.0255	19.43	0.94760	0.0:1.0:0.0:0.0	.	707;791	Q13033-2;Q13033	.;STRN3_HUMAN	T	707;791	ENSP00000347909:A707T;ENSP00000350071:A791T	ENSP00000347909:A707T	A	-	1	0	STRN3	30434391	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	5.914000	0.69964	2.589000	0.87451	0.591000	0.81541	GCT		0.388	STRN3-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409713.1	NM_014574		3	11	0	0	0	1	0	3	11				
CBFA2T2	9139	broad.mit.edu	37	20	32212724	32212724	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr20:32212724C>T	ENST00000346541.3	+	7	1411	c.874C>T	c.(874-876)Cag>Tag	p.Q292*	CBFA2T2_ENST00000375279.2_Nonsense_Mutation_p.Q292*|CBFA2T2_ENST00000397800.1_Nonsense_Mutation_p.Q263*|CBFA2T2_ENST00000342704.6_Nonsense_Mutation_p.Q283*|CBFA2T2_ENST00000491618.1_3'UTR|CBFA2T2_ENST00000492345.1_Nonsense_Mutation_p.Q263*|CBFA2T2_ENST00000359606.3_Nonsense_Mutation_p.Q302*	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	292					epithelial cell differentiation (GO:0030855)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						TCCACCTCTTCAGCATTACAC	0.527																																					Esophageal Squamous(174;142 1955 14837 21276 28041)	ENST00000346541.3																			0				breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						c.(874-876)Cag>Tag		core-binding factor, runt domain, alpha subunit 2; translocated to, 2							120.0	99.0	106.0					20																	32212724		2203	4300	6503	SO:0001587	stop_gained	9139					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:32212724C>T	AF052210	CCDS13221.1, CCDS46590.1	20q11	2007-01-29			ENSG00000078699	ENSG00000078699		"""Zinc fingers, MYND-type"""	1536	protein-coding gene	gene with protein product		603672				9790752	Standard	XM_006723886		Approved	MTGR1, ZMYND3	uc002wze.1	O43439	OTTHUMG00000032261	ENST00000346541.3:c.874C>T	20.37:g.32212724C>T	ENSP00000262653:p.Gln292*					CBFA2T2_ENST00000342704.5_Nonsense_Mutation_p.Q283*|CBFA2T2_ENST00000397800.1_Nonsense_Mutation_p.Q263*|CBFA2T2_ENST00000375279.2_Nonsense_Mutation_p.Q292*|CBFA2T2_ENST00000359606.3_Nonsense_Mutation_p.Q302*|CBFA2T2_ENST00000491618.1_3'UTR	p.Q292*	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN			7	1411	+			292					B2RAE6|F8W6D7|Q5TGE4|Q5TGE5|Q5TGE6|Q5TGE7|Q8IWF3|Q96B06|Q96L00|Q9H436|Q9UJP8|Q9UJP9|Q9UP24	Nonsense_Mutation	SNP	ENST00000346541.3	37	c.874C>T	CCDS13221.1	.	.	.	.	.	.	.	.	.	.	C	37	6.267538	0.97426	.	.	ENSG00000078699	ENST00000397803;ENST00000375279;ENST00000342704;ENST00000346541;ENST00000397800;ENST00000359606	.	.	.	5.83	5.83	0.93111	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.29301	T	0.29	-15.7618	20.1195	0.97955	0.0:1.0:0.0:0.0	.	.	.	.	X	66;292;283;292;263;302	.	ENSP00000345810:Q283X	Q	+	1	0	CBFA2T2	31676385	1.000000	0.71417	0.998000	0.56505	0.056000	0.15407	7.487000	0.81328	2.759000	0.94783	0.650000	0.86243	CAG		0.527	CBFA2T2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078708.2	NM_001032999		25	40	0	0	0	1	0	25	40				
MYL9	10398	broad.mit.edu	37	20	35176500	35176500	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr20:35176500A>G	ENST00000279022.2	+	3	354	c.250A>G	c.(250-252)Acc>Gcc	p.T84A	MYL9_ENST00000346786.2_Intron|RP5-977B1.11_ENST00000561134.1_RNA|RP5-977B1.7_ENST00000439595.1_RNA|RP5-977B1.7_ENST00000425233.1_RNA	NM_006097.4	NP_006088.2	P24844	MYL9_HUMAN	myosin, light chain 9, regulatory	84					axon guidance (GO:0007411)|muscle contraction (GO:0006936)|platelet aggregation (GO:0070527)|regulation of muscle contraction (GO:0006937)	cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|stress fiber (GO:0001725)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|structural constituent of muscle (GO:0008307)			endometrium(2)|kidney(1)|large_intestine(3)|lung(2)	8	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)				CATCAACTTCACCATGTTCCT	0.607																																						ENST00000279022.2																			0				endometrium(2)|kidney(1)|large_intestine(3)|lung(2)	8						c.(250-252)Acc>Gcc		myosin, light chain 9, regulatory							121.0	82.0	95.0					20																	35176500		2203	4300	6503	SO:0001583	missense	10398				axon guidance|muscle contraction|regulation of muscle contraction	cytosol|muscle myosin complex	calcium ion binding|structural constituent of muscle	g.chr20:35176500A>G	J02854	CCDS13276.1, CCDS13277.1	20q11.23	2013-01-10	2006-09-29		ENSG00000101335	ENSG00000101335		"""Myosins / Light chain"", ""EF-hand domain containing"""	15754	protein-coding gene	gene with protein product	"""myosin regulatory light chain 2, smooth muscle isoform"", ""myosin regulatory light chain 1"""	609905	"""myosin, light polypeptide 9, regulatory"""			2526655	Standard	NM_006097		Approved	MYRL2, MLC2, LC20, MRLC1	uc002xfl.2	P24844	OTTHUMG00000032387	ENST00000279022.2:c.250A>G	20.37:g.35176500A>G	ENSP00000279022:p.Thr84Ala					MYL9_ENST00000346786.2_Intron|RP5-977B1.7_ENST00000425233.1_RNA|RP5-977B1.7_ENST00000439595.1_RNA	p.T84A	NM_006097.4	NP_006088.2	P24844	MYL9_HUMAN			3	354	+	Breast(12;0.0192)	Myeloproliferative disorder(115;0.00878)	84					E1P5T6|Q9BQL9|Q9BUF9|Q9H136	Missense_Mutation	SNP	ENST00000279022.2	37	c.250A>G	CCDS13276.1	.	.	.	.	.	.	.	.	.	.	A	18.96	3.732880	0.69189	.	.	ENSG00000101335	ENST00000279022	T	0.78707	-1.2	4.92	4.92	0.64577	EF-hand-like domain (1);	0.000000	0.85682	D	0.000000	T	0.78735	0.4330	M	0.80508	2.5	0.80722	D	1	B	0.12013	0.005	B	0.14023	0.01	T	0.77869	-0.2427	10	0.62326	D	0.03	.	13.7013	0.62611	1.0:0.0:0.0:0.0	.	84	P24844	MYL9_HUMAN	A	84	ENSP00000279022:T84A	ENSP00000279022:T84A	T	+	1	0	MYL9	34609914	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	9.236000	0.95360	1.974000	0.57490	0.533000	0.62120	ACC		0.607	MYL9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079015.2	NM_006097		18	36	0	0	0	1	0	18	36				
SAE1	10055	broad.mit.edu	37	19	47653537	47653537	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:47653537G>C	ENST00000270225.7	+	3	357	c.289G>C	c.(289-291)Gag>Cag	p.E97Q	SAE1_ENST00000540850.1_5'UTR|SAE1_ENST00000413379.3_Missense_Mutation_p.E97Q|SAE1_ENST00000598840.1_Missense_Mutation_p.E97Q|SAE1_ENST00000392776.3_Missense_Mutation_p.E97Q	NM_005500.2	NP_005491.1	Q9UBE0	SAE1_HUMAN	SUMO1 activating enzyme subunit 1	97					cellular protein metabolic process (GO:0044267)|positive regulation of catalytic activity (GO:0043085)|post-translational protein modification (GO:0043687)|protein sumoylation (GO:0016925)|protein ubiquitination (GO:0016567)|regulation of mitotic cell cycle (GO:0007346)|SMT3-dependent protein catabolic process (GO:0019950)	cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	ATP-dependent protein binding (GO:0043008)|enzyme activator activity (GO:0008047)|protein C-terminus binding (GO:0008022)|protein heterodimerization activity (GO:0046982)|ubiquitin activating enzyme activity (GO:0004839)			endometrium(3)|large_intestine(5)|lung(4)|ovary(1)	13		all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15)		all cancers(93;0.00013)|OV - Ovarian serous cystadenocarcinoma(262;0.000146)|Epithelial(262;0.00697)|GBM - Glioblastoma multiforme(486;0.0278)		AGCCTCTTTGGAGCGAGCTCA	0.453																																						ENST00000413379.3																			0				endometrium(3)|large_intestine(5)|lung(4)|ovary(1)	13						c.(289-291)Gag>Cag		SUMO1 activating enzyme subunit 1							123.0	124.0	124.0					19																	47653537		2203	4300	6503	SO:0001583	missense	10055				protein sumoylation|protein ubiquitination	nucleus	ATP-dependent protein binding|enzyme activator activity|ligase activity|protein C-terminus binding|protein heterodimerization activity|ubiquitin activating enzyme activity	g.chr19:47653537G>C	BC018271	CCDS12696.1, CCDS54284.1, CCDS54285.1	19q13.32	2013-09-26				ENSG00000142230		"""Ubiquitin-like modifier activating enzymes"""	30660	protein-coding gene	gene with protein product	"""activator Of sumo 1"""	613294				10187858, 9920803, 10217437	Standard	NM_005500		Approved	AOS1, FLJ3091, Sua1	uc002pgc.3	Q9UBE0		ENST00000270225.7:c.289G>C	19.37:g.47653537G>C	ENSP00000270225:p.Glu97Gln					SAE1_ENST00000598840.1_Missense_Mutation_p.E97Q|SAE1_ENST00000540850.1_5'UTR|SAE1_ENST00000392776.3_Missense_Mutation_p.E97Q|SAE1_ENST00000270225.7_Missense_Mutation_p.E97Q	p.E97Q	NM_001145713.1	NP_001139185.1	Q9UBE0	SAE1_HUMAN		all cancers(93;0.00013)|OV - Ovarian serous cystadenocarcinoma(262;0.000146)|Epithelial(262;0.00697)|GBM - Glioblastoma multiforme(486;0.0278)	3	391	+		all_cancers(25;1.13e-05)|all_lung(116;0.000192)|all_epithelial(76;0.000274)|Lung NSC(112;0.000446)|all_neural(266;0.0652)|Ovarian(192;0.15)	97					B2RDP5|B3KMQ2|F5GXX7|G3XAK6|O95717|Q9P020	Missense_Mutation	SNP	ENST00000270225.7	37	c.289G>C	CCDS12696.1	.	.	.	.	.	.	.	.	.	.	G	13.79	2.343717	0.41498	.	.	ENSG00000142230	ENST00000413379;ENST00000270225;ENST00000392776;ENST00000414294	T;T;T;T	0.47869	0.83;0.83;0.83;0.83	5.24	5.24	0.73138	UBA/THIF-type NAD/FAD binding fold (1);Molybdenum cofactor biosynthesis, MoeB (1);NAD(P)-binding domain (1);	0.100568	0.64402	D	0.000002	T	0.34542	0.0901	L	0.31845	0.965	0.80722	D	1	B;B;B	0.25809	0.135;0.011;0.014	B;B;B	0.24701	0.055;0.019;0.033	T	0.11299	-1.0593	10	0.17369	T	0.5	.	11.4643	0.50230	0.0845:0.0:0.9155:0.0	.	97;97;97	G3XAK6;F5GXX7;Q9UBE0	.;.;SAE1_HUMAN	Q	97	ENSP00000416557:E97Q;ENSP00000270225:E97Q;ENSP00000440818:E97Q;ENSP00000398818:E97Q	ENSP00000270225:E97Q	E	+	1	0	SAE1	52345377	1.000000	0.71417	1.000000	0.80357	0.966000	0.64601	7.428000	0.80296	2.609000	0.88269	0.655000	0.94253	GAG		0.453	SAE1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000466775.1	NM_005500		50	105	0	0	0	1	0	50	105				
MYOF	26509	broad.mit.edu	37	10	95168667	95168667	+	Silent	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr10:95168667G>A	ENST00000359263.4	-	7	605	c.606C>T	c.(604-606)cgC>cgT	p.R202R	MYOF_ENST00000371502.4_Silent_p.R202R|MYOF_ENST00000358334.5_Silent_p.R202R|MYOF_ENST00000371489.1_Silent_p.R202R|MYOF_ENST00000371501.4_Silent_p.R202R	NM_013451.3	NP_038479.1	Q9NZM1	MYOF_HUMAN	myoferlin	202	C2 2. {ECO:0000255|PROSITE- ProRule:PRU00041}.|Necessary for interaction with EHD2.				blood circulation (GO:0008015)|cellular response to heat (GO:0034605)|muscle contraction (GO:0006936)|plasma membrane repair (GO:0001778)|regulation of vascular endothelial growth factor receptor signaling pathway (GO:0030947)	caveola (GO:0005901)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nuclear envelope (GO:0005635)|plasma membrane (GO:0005886)	phospholipid binding (GO:0005543)			NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						TCACTCGGACGCGGATCTGCA	0.512																																						ENST00000371501.4																			0				NS(2)|autonomic_ganglia(1)|breast(3)|endometrium(7)|kidney(7)|large_intestine(15)|lung(14)|ovary(4)|prostate(4)|skin(6)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	67						c.(604-606)cgC>cgT		myoferlin							122.0	109.0	113.0					10																	95168667		1989	4185	6174	SO:0001819	synonymous_variant	26509				blood circulation|muscle contraction|plasma membrane repair	caveola|cytoplasmic vesicle membrane|integral to membrane|nuclear membrane	phospholipid binding|protein binding	g.chr10:95168667G>A	AB033033	CCDS41550.1, CCDS41551.1	10q24	2014-06-27	2008-11-26	2008-11-26	ENSG00000138119	ENSG00000138119			3656	protein-coding gene	gene with protein product	"""fer-1-like family member 3"""	604603	"""fer-1 (C.elegans)-like 3 (myoferlin)"", ""fer-1-like 3, myoferlin (C. elegans)"""	FER1L3		10607832, 10995573, 17702744	Standard	NM_013451		Approved	KIAA1207	uc001kin.3	Q9NZM1	OTTHUMG00000018772	ENST00000359263.4:c.606C>T	10.37:g.95168667G>A						MYOF_ENST00000359263.4_Silent_p.R202R|MYOF_ENST00000371502.4_Silent_p.R202R|MYOF_ENST00000358334.5_Silent_p.R202R|MYOF_ENST00000371489.1_Silent_p.R202R	p.R202R			Q9NZM1	MYOF_HUMAN			7	728	-			202			C2 2.|Necessary for interaction with EHD2.		B3KQN5|Q5VWW2|Q5VWW3|Q5VWW4|Q5VWW5|Q7Z642|Q8IWH0|Q9HBU3|Q9NZM0|Q9ULL3|Q9Y4U4	Silent	SNP	ENST00000359263.4	37	c.606C>T	CCDS41551.1																																																																																				0.512	MYOF-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000049423.2	NM_013451		43	92	0	0	0	1	0	43	92				
DLGAP3	58512	broad.mit.edu	37	1	35370191	35370191	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:35370191T>C	ENST00000373347.1	-	3	1062	c.794A>G	c.(793-795)gAc>gGc	p.D265G	DLGAP3_ENST00000495979.1_5'Flank|DLGAP3_ENST00000235180.4_Missense_Mutation_p.D265G			O95886	DLGP3_HUMAN	discs, large (Drosophila) homolog-associated protein 3	265					cell-cell signaling (GO:0007267)	cell junction (GO:0030054)|postsynaptic membrane (GO:0045211)	beta-amyloid binding (GO:0001540)			central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46		Myeloproliferative disorder(586;0.0393)				GTCCAAGTTGTCATCGGAACT	0.662																																						ENST00000373347.1																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(23)|ovary(4)|prostate(3)|skin(3)|urinary_tract(1)	46						c.(793-795)gAc>gGc		discs, large (Drosophila) homolog-associated protein 3							111.0	103.0	106.0					1																	35370191		2203	4300	6503	SO:0001583	missense	58512				cell-cell signaling	cell junction|postsynaptic density|postsynaptic membrane		g.chr1:35370191T>C	AF131778	CCDS30670.1	1p35.3-p34.1	2008-02-05			ENSG00000116544	ENSG00000116544			30368	protein-coding gene	gene with protein product		611413				8619474, 9110174	Standard	NM_001080418		Approved	SAPAP3, DAP3	uc001byc.3	O95886	OTTHUMG00000004049	ENST00000373347.1:c.794A>G	1.37:g.35370191T>C	ENSP00000362444:p.Asp265Gly					DLGAP3_ENST00000235180.4_Missense_Mutation_p.D265G	p.D265G			O95886	DLGP3_HUMAN			3	1062	-		Myeloproliferative disorder(586;0.0393)	265					Q5TDD5|Q9H3X7	Missense_Mutation	SNP	ENST00000373347.1	37	c.794A>G	CCDS30670.1	.	.	.	.	.	.	.	.	.	.	T	21.2	4.109930	0.77210	.	.	ENSG00000116544	ENST00000373347;ENST00000235180	T;T	0.54866	0.55;0.55	5.02	5.02	0.67125	.	0.000000	0.85682	D	0.000000	T	0.72898	0.3518	M	0.79258	2.445	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.77437	-0.2588	10	0.87932	D	0	-16.2691	15.0387	0.71770	0.0:0.0:0.0:1.0	.	265	O95886	DLGP3_HUMAN	G	265	ENSP00000362444:D265G;ENSP00000235180:D265G	ENSP00000235180:D265G	D	-	2	0	DLGAP3	35142778	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.586000	0.82596	2.017000	0.59298	0.533000	0.62120	GAC		0.662	DLGAP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011554.1	NM_021234		70	126	0	0	0	1	0	70	126				
JAK2	3717	broad.mit.edu	37	9	5055756	5055756	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr9:5055756G>A	ENST00000381652.3	+	8	1518	c.1024G>A	c.(1024-1026)Gta>Ata	p.V342I	JAK2_ENST00000544510.1_Missense_Mutation_p.V193I|JAK2_ENST00000539801.1_Missense_Mutation_p.V342I	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN	Janus kinase 2	342	FERM. {ECO:0000255|PROSITE- ProRule:PRU00084}.				actin filament polymerization (GO:0030041)|activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of cysteine-type endopeptidase activity involved in apoptotic signaling pathway (GO:0097296)|activation of JAK2 kinase activity (GO:0042977)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|axon regeneration (GO:0031103)|blood coagulation (GO:0007596)|cell differentiation (GO:0030154)|cellular component movement (GO:0006928)|cytokine-mediated signaling pathway (GO:0019221)|enzyme linked receptor protein signaling pathway (GO:0007167)|erythrocyte differentiation (GO:0030218)|extrinsic apoptotic signaling pathway (GO:0097191)|G-protein coupled receptor signaling pathway (GO:0007186)|growth hormone receptor signaling pathway (GO:0060396)|histone H3-Y41 phosphorylation (GO:0035409)|hormone-mediated signaling pathway (GO:0009755)|host programmed cell death induced by symbiont (GO:0034050)|interferon-gamma-mediated signaling pathway (GO:0060333)|interleukin-12-mediated signaling pathway (GO:0035722)|intracellular signal transduction (GO:0035556)|intrinsic apoptotic signaling pathway in response to oxidative stress (GO:0008631)|JAK-STAT cascade (GO:0007259)|JAK-STAT cascade involved in growth hormone signaling pathway (GO:0060397)|mammary gland epithelium development (GO:0061180)|mesoderm development (GO:0007498)|mineralocorticoid receptor signaling pathway (GO:0031959)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-cell adhesion (GO:0022408)|negative regulation of DNA binding (GO:0043392)|negative regulation of heart contraction (GO:0045822)|negative regulation of neuron apoptotic process (GO:0043524)|peptidyl-tyrosine phosphorylation (GO:0018108)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of cell activation (GO:0050867)|positive regulation of cell differentiation (GO:0045597)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of DNA binding (GO:0043388)|positive regulation of growth hormone receptor signaling pathway (GO:0060399)|positive regulation of inflammatory response (GO:0050729)|positive regulation of insulin secretion (GO:0032024)|positive regulation of interleukin-1 beta production (GO:0032731)|positive regulation of nitric oxide biosynthetic process (GO:0045429)|positive regulation of nitric-oxide synthase biosynthetic process (GO:0051770)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of phosphoprotein phosphatase activity (GO:0032516)|positive regulation of protein import into nucleus, translocation (GO:0033160)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of tumor necrosis factor production (GO:0032760)|positive regulation of tyrosine phosphorylation of Stat3 protein (GO:0042517)|positive regulation of tyrosine phosphorylation of Stat5 protein (GO:0042523)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of inflammatory response (GO:0050727)|regulation of interferon-gamma-mediated signaling pathway (GO:0060334)|response to antibiotic (GO:0046677)|response to hydroperoxide (GO:0033194)|response to interleukin-12 (GO:0070671)|response to lipopolysaccharide (GO:0032496)|response to tumor necrosis factor (GO:0034612)|signal transduction (GO:0007165)|STAT protein import into nucleus (GO:0007262)|tumor necrosis factor-mediated signaling pathway (GO:0033209)|tyrosine phosphorylation of STAT protein (GO:0007260)|tyrosine phosphorylation of Stat1 protein (GO:0042508)|tyrosine phosphorylation of Stat3 protein (GO:0042503)|tyrosine phosphorylation of Stat5 protein (GO:0042506)	caveola (GO:0005901)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|endosome lumen (GO:0031904)|membrane raft (GO:0045121)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	ATP binding (GO:0005524)|growth hormone receptor binding (GO:0005131)|heme binding (GO:0020037)|histone binding (GO:0042393)|histone kinase activity (H3-Y41 specific) (GO:0035401)|interleukin-12 receptor binding (GO:0005143)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein kinase activity (GO:0004672)|protein kinase binding (GO:0019901)|protein tyrosine kinase activity (GO:0004713)|receptor binding (GO:0005102)|SH2 domain binding (GO:0042169)		BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	Ruxolitinib(DB08877)|Tofacitinib(DB08895)	AAGCCGAGTTGTAACTATCCA	0.294		1	"""T, Mis, O"""	"""ETV6, PCM1, BCR"""	"""ALL, AML, MPD,  CML"""				Polycythemia Vera, Familial																													ENST00000381652.3		1		Dom	yes		9	9p24	3717	"""T, Mis, O"""	Janus kinase 2			L	"""ETV6, PCM1, BCR"""		"""ALL, AML, MPD,  CML"""	BCR/JAK2(6)|SSBP2/JAK2(4)|SEC31A/JAK2(4)|ETV6/JAK2(11)|PCM1/JAK2(30)|PAX5/JAK2(18)	0				breast(5)|endometrium(4)|haematopoietic_and_lymphoid_tissue(32944)|kidney(4)|large_intestine(10)|liver(1)|lung(20)|ovary(3)|prostate(4)|skin(2)|urinary_tract(1)	32998						c.(1024-1026)Gta>Ata		Janus kinase 2							81.0	84.0	83.0					9																	5055756		2202	4297	6499	SO:0001583	missense	3717	Polycythemia Vera, Familial	Familial Cancer Database		actin filament polymerization|activation of caspase activity by protein phosphorylation|activation of JAK2 kinase activity|blood coagulation|cellular component movement|erythrocyte differentiation|interferon-gamma-mediated signaling pathway|interleukin-12-mediated signaling pathway|JAK-STAT cascade involved in growth hormone signaling pathway|mammary gland epithelium development|mesoderm development|negative regulation of cell proliferation|negative regulation of DNA binding|positive regulation of apoptosis|positive regulation of cell-substrate adhesion|positive regulation of growth hormone receptor signaling pathway|positive regulation of nitric-oxide synthase 2 biosynthetic process|positive regulation of phosphatidylinositol 3-kinase cascade|positive regulation of tumor necrosis factor production|positive regulation of tyrosine phosphorylation of Stat3 protein|positive regulation of tyrosine phosphorylation of Stat5 protein|protein autophosphorylation|regulation of inflammatory response|regulation of interferon-gamma-mediated signaling pathway|response to antibiotic|response to lipopolysaccharide|STAT protein import into nucleus|tumor necrosis factor-mediated signaling pathway|tyrosine phosphorylation of STAT protein	caveola|cytoskeleton|cytosol|endomembrane system|nucleus	ATP binding|growth hormone receptor binding|heme binding|histone binding|histone kinase activity (H3-Y41 specific)|interleukin-12 receptor binding|non-membrane spanning protein tyrosine kinase activity|protein kinase binding|SH2 domain binding	g.chr9:5055756G>A		CCDS6457.1	9p24	2014-09-17	2009-04-23		ENSG00000096968	ENSG00000096968	2.7.10.1	"""SH2 domain containing"""	6192	protein-coding gene	gene with protein product		147796				1848670	Standard	NM_004972		Approved	JTK10	uc003ziw.3	O60674	OTTHUMG00000019490	ENST00000381652.3:c.1024G>A	9.37:g.5055756G>A	ENSP00000371067:p.Val342Ile					JAK2_ENST00000544510.1_Missense_Mutation_p.V193I|JAK2_ENST00000539801.1_Missense_Mutation_p.V342I	p.V342I	NM_004972.3	NP_004963.1	O60674	JAK2_HUMAN		GBM - Glioblastoma multiforme(50;0.0237)|Lung(218;0.133)	8	1518	+	all_hematologic(13;0.137)	Acute lymphoblastic leukemia(23;0.0198)|Breast(48;0.147)	342			FERM.		O14636|O75297	Missense_Mutation	SNP	ENST00000381652.3	37	c.1024G>A	CCDS6457.1	.	.	.	.	.	.	.	.	.	.	G	29.1	4.978360	0.92982	.	.	ENSG00000096968	ENST00000539801;ENST00000381652;ENST00000544510	T;T;T	0.66099	-0.19;-0.19;-0.19	5.78	5.78	0.91487	FERM domain (1);	0.000000	0.85682	D	0.000000	T	0.80121	0.4565	M	0.86028	2.79	0.58432	D	0.999999	D	0.76494	0.999	D	0.65987	0.94	T	0.82528	-0.0412	10	0.66056	D	0.02	-18.3033	15.1293	0.72511	0.0695:0.0:0.9305:0.0	.	342	O60674	JAK2_HUMAN	I	342;342;193	ENSP00000440387:V342I;ENSP00000371067:V342I;ENSP00000443103:V193I	ENSP00000371067:V342I	V	+	1	0	JAK2	5045756	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.363000	0.79516	2.733000	0.93635	0.655000	0.94253	GTA		0.294	JAK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051609.1			9	23	0	0	0	1	0	9	23				
PBX2	5089	broad.mit.edu	37	6	32154621	32154621	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr6:32154621C>A	ENST00000375050.4	-	7	1352	c.1082G>T	c.(1081-1083)gGg>gTg	p.G361V	AGER_ENST00000375067.3_5'Flank|XXbac-BPG300A18.13_ENST00000559458.1_RNA|AGER_ENST00000375070.3_5'Flank|AGER_ENST00000375069.3_5'Flank|AGER_ENST00000375065.5_5'Flank|AGER_ENST00000375055.2_5'Flank|AGER_ENST00000538695.1_5'Flank|AGER_ENST00000375076.4_5'Flank|AGER_ENST00000438221.2_5'Flank	NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN	pre-B-cell leukemia homeobox 2	361					embryonic limb morphogenesis (GO:0030326)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|proximal/distal pattern formation (GO:0009954)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	chromatin binding (GO:0003682)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						TCCGTTGAGCCCAGGCATCCC	0.522																																						ENST00000375050.4																			0				endometrium(1)|kidney(1)|lung(9)|ovary(1)|prostate(2)	14						c.(1081-1083)gGg>gTg		pre-B-cell leukemia homeobox 2							75.0	73.0	74.0					6																	32154621		2203	4300	6503	SO:0001583	missense	5089						transcription factor binding	g.chr6:32154621C>A		CCDS4748.1	6p21.32	2011-06-20	2007-01-30		ENSG00000204304	ENSG00000204304		"""Homeoboxes / TALE class"""	8633	protein-coding gene	gene with protein product		176311	"""pre-B-cell leukemia transcription factor 2"""			7835890	Standard	NM_002586		Approved	G17, HOX12, PBX2MHC	uc003oav.1	P40425	OTTHUMG00000031116	ENST00000375050.4:c.1082G>T	6.37:g.32154621C>A	ENSP00000364190:p.Gly361Val						p.G361V	NM_002586.4	NP_002577.2	P40425	PBX2_HUMAN			7	1352	-			361					A2BFJ2	Missense_Mutation	SNP	ENST00000375050.4	37	c.1082G>T	CCDS4748.1	.	.	.	.	.	.	.	.	.	.	C	18.75	3.691628	0.68271	.	.	ENSG00000204304	ENST00000375050	D	0.88124	-2.34	4.99	4.99	0.66335	.	0.126252	0.36134	N	0.002771	T	0.70868	0.3273	N	0.22421	0.69	0.58432	D	0.999995	P	0.36789	0.57	B	0.32533	0.147	T	0.75777	-0.3198	10	0.42905	T	0.14	-10.0328	15.8213	0.78648	0.0:1.0:0.0:0.0	.	361	P40425	PBX2_HUMAN	V	361	ENSP00000364190:G361V	ENSP00000364190:G361V	G	-	2	0	PBX2	32262599	0.984000	0.35163	1.000000	0.80357	0.995000	0.86356	1.728000	0.38105	2.606000	0.88127	0.561000	0.74099	GGG		0.522	PBX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076194.4			24	58	1	0	1.77063e-15	1	2.05126e-15	24	58				
ERMP1	79956	broad.mit.edu	37	9	5810094	5810094	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr9:5810094A>G	ENST00000339450.5	-	8	1554	c.1465T>C	c.(1465-1467)Tat>Cat	p.Y489H	ERMP1_ENST00000214893.5_5'UTR|ERMP1_ENST00000543230.1_Missense_Mutation_p.Y67H|ERMP1_ENST00000381506.3_Missense_Mutation_p.Y265H	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN	endoplasmic reticulum metallopeptidase 1	489						endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20		Acute lymphoblastic leukemia(23;0.158)		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)		ACGGAGACATAGAAGTGGTTA	0.373																																						ENST00000339450.5																			0				endometrium(2)|kidney(1)|large_intestine(9)|lung(4)|ovary(1)|prostate(2)|skin(1)	20						c.(1465-1467)Tat>Cat		endoplasmic reticulum metallopeptidase 1							153.0	139.0	144.0					9																	5810094		2203	4300	6503	SO:0001583	missense	79956				proteolysis	endoplasmic reticulum membrane|integral to membrane	metal ion binding|metallopeptidase activity	g.chr9:5810094A>G	AB058718	CCDS34983.1	9p24	2008-02-05	2007-07-05	2007-07-05	ENSG00000099219	ENSG00000099219			23703	protein-coding gene	gene with protein product	"""Felix-ina"""	611156	"""KIAA1815"""	KIAA1815		11347906	Standard	XM_005251587		Approved	FLJ23309, FXNA	uc003zjm.1	Q7Z2K6	OTTHUMG00000019508	ENST00000339450.5:c.1465T>C	9.37:g.5810094A>G	ENSP00000340427:p.Tyr489His					ERMP1_ENST00000381506.3_Missense_Mutation_p.Y265H|ERMP1_ENST00000214893.5_5'UTR|ERMP1_ENST00000543230.1_Missense_Mutation_p.Y67H	p.Y489H	NM_024896.2	NP_079172.2	Q7Z2K6	ERMP1_HUMAN		GBM - Glioblastoma multiforme(50;0.00115)|Lung(218;0.111)	8	1554	-		Acute lymphoblastic leukemia(23;0.158)	489					B2RNA4|B3KSB1|Q8N5T5|Q9H5M1	Missense_Mutation	SNP	ENST00000339450.5	37	c.1465T>C	CCDS34983.1	.	.	.	.	.	.	.	.	.	.	A	28.4	4.913219	0.92178	.	.	ENSG00000099219	ENST00000339450;ENST00000543230;ENST00000381506	T	0.48836	0.8	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	T	0.62011	0.2393	L	0.52573	1.65	0.80722	D	1	D	0.76494	0.999	D	0.69142	0.962	T	0.57670	-0.7771	10	0.31617	T	0.26	-19.9015	16.3948	0.83586	1.0:0.0:0.0:0.0	.	489	Q7Z2K6	ERMP1_HUMAN	H	489;67;265	ENSP00000340427:Y489H	ENSP00000340427:Y489H	Y	-	1	0	ERMP1	5800094	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.649000	0.91067	2.326000	0.78906	0.533000	0.62120	TAT		0.373	ERMP1-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354877.1	NM_024896		23	81	0	0	0	1	0	23	81				
SVIL	6840	broad.mit.edu	37	10	29747238	29747238	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr10:29747238C>T	ENST00000355867.4	-	38	7335	c.6583G>A	c.(6583-6585)Gaa>Aaa	p.E2195K	PTCHD3P1_ENST00000455774.1_RNA|SVIL_ENST00000375398.2_Missense_Mutation_p.E2195K|SVIL_ENST00000535393.1_Missense_Mutation_p.E1109K|SVIL_ENST00000375400.3_Missense_Mutation_p.E1769K|PTCHD3P1_ENST00000438202.1_RNA|PTCHD3P1_ENST00000423223.1_RNA|PTCHD3P1_ENST00000414457.1_RNA|PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000445521.1_RNA|PTCHD3P1_ENST00000446807.1_RNA|PTCHD3P1_ENST00000430295.1_RNA	NM_021738.2	NP_068506.2	O95425	SVIL_HUMAN	supervillin	2195	HP. {ECO:0000255|PROSITE- ProRule:PRU00595}.				cytoskeleton organization (GO:0007010)|skeletal muscle tissue development (GO:0007519)	actin cytoskeleton (GO:0015629)|cell projection (GO:0042995)|costamere (GO:0043034)|cytoplasm (GO:0005737)|focal adhesion (GO:0005925)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)			breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112		Breast(68;0.103)				GCGTTGTATTCATCCCTCGTC	0.577																																						ENST00000375398.2																			0				breast(1)|central_nervous_system(3)|cervix(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(24)|lung(35)|ovary(8)|prostate(2)|skin(4)|stomach(7)|upper_aerodigestive_tract(2)|urinary_tract(2)	112						c.(6583-6585)Gaa>Aaa		supervillin							118.0	104.0	109.0					10																	29747238		2203	4300	6503	SO:0001583	missense	6840				cytoskeleton organization|skeletal muscle tissue development	cell junction|costamere|invadopodium|nucleus|podosome	actin filament binding	g.chr10:29747238C>T	AF051851	CCDS7163.1, CCDS7164.1	10p11.2	2008-07-29			ENSG00000197321	ENSG00000197321			11480	protein-coding gene	gene with protein product	"""archvillin"""	604126				9382871	Standard	NM_003174		Approved		uc001iut.1	O95425	OTTHUMG00000017882	ENST00000355867.4:c.6583G>A	10.37:g.29747238C>T	ENSP00000348128:p.Glu2195Lys					PTCHD3P1_ENST00000413405.1_RNA|PTCHD3P1_ENST00000414457.1_RNA|PTCHD3P1_ENST00000446807.1_RNA|SVIL_ENST00000375400.3_Missense_Mutation_p.E1769K|PTCHD3P1_ENST00000455774.1_RNA|PTCHD3P1_ENST00000438202.1_RNA|PTCHD3P1_ENST00000423223.1_RNA|SVIL_ENST00000355867.4_Missense_Mutation_p.E2195K|PTCHD3P1_ENST00000445521.1_RNA|PTCHD3P1_ENST00000430295.1_RNA|SVIL_ENST00000535393.1_Missense_Mutation_p.E1109K	p.E2195K			O95425	SVIL_HUMAN			40	7032	-		Breast(68;0.103)	2195			HP.		D3DRW9|M1J557|O60611|O60612|Q5VZK5|Q5VZK6|Q9H1R7	Missense_Mutation	SNP	ENST00000355867.4	37	c.6583G>A	CCDS7164.1	.	.	.	.	.	.	.	.	.	.	C	33	5.193863	0.94960	.	.	ENSG00000197321	ENST00000375400;ENST00000375398;ENST00000355867;ENST00000535393	T;T;T;T	0.17691	2.36;2.37;2.37;2.26	4.59	4.59	0.56863	Villin headpiece (5);	0.000000	0.85682	D	0.000000	T	0.45696	0.1355	M	0.80028	2.48	0.80722	D	1	D;P;D	0.89917	1.0;0.938;0.994	D;P;D	0.80764	0.994;0.834;0.954	T	0.52238	-0.8602	10	0.72032	D	0.01	-7.7047	17.6377	0.88128	0.0:1.0:0.0:0.0	.	1109;1769;2195	F5H2Q5;O95425-2;O95425	.;.;SVIL_HUMAN	K	1769;2195;2195;1109	ENSP00000364549:E1769K;ENSP00000364547:E2195K;ENSP00000348128:E2195K;ENSP00000445472:E1109K	ENSP00000348128:E2195K	E	-	1	0	SVIL	29787244	1.000000	0.71417	0.036000	0.18154	0.002000	0.02628	7.480000	0.81109	2.371000	0.80710	0.644000	0.83932	GAA		0.577	SVIL-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047395.1			27	43	0	0	0	1	0	27	43				
PCDHB12	56124	broad.mit.edu	37	5	140590001	140590001	+	Missense_Mutation	SNP	G	G	A	rs138442827	byFrequency	TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr5:140590001G>A	ENST00000239450.2	+	1	1711	c.1522G>A	c.(1522-1524)Gcg>Acg	p.A508T	PCDHB12_ENST00000541609.1_Missense_Mutation_p.A171T	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	protocadherin beta 12	508	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCCATCAACGCGGACAACGG	0.677													G|||	2	0.000399361	0.0	0.0014	5008	,	,		15635	0.0		0.001	False		,,,				2504	0.0					ENST00000239450.2																			0				NS(1)|breast(3)|endometrium(10)|large_intestine(17)|lung(38)|ovary(3)|pancreas(1)|prostate(2)|skin(7)|stomach(1)	83						c.(1522-1524)Gcg>Acg				G	THR/ALA	6,4400	9.9+/-24.2	0,6,2197	85.0	87.0	86.0		1522	-2.8	0.0	5	dbSNP_134	86	0,8594		0,0,4297	no	missense	PCDHB12	NM_018932.3	58	0,6,6494	AA,AG,GG		0.0,0.1362,0.0462	benign	508/796	140590001	6,12994	2203	4297	6500	SO:0001583	missense	56124				homophilic cell adhesion|nervous system development	integral to plasma membrane	calcium ion binding	g.chr5:140590001G>A	AF152491	CCDS4254.1	5q31	2010-01-26			ENSG00000120328	ENSG00000120328		"""Cadherins / Protocadherins : Clustered"""	8683	other	protocadherin		606338				10380929	Standard	NM_018932		Approved	PCDH-BETA12	uc003liz.3	Q9Y5F1	OTTHUMG00000129620	ENST00000239450.2:c.1522G>A	5.37:g.140590001G>A	ENSP00000239450:p.Ala508Thr					PCDHB12_ENST00000541609.1_Missense_Mutation_p.A171T	p.A508T	NM_018932.3	NP_061755.1	Q9Y5F1	PCDBC_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1711	+			508			Cadherin 5.		B4DDU1	Missense_Mutation	SNP	ENST00000239450.2	37	c.1522G>A	CCDS4254.1	.	.	.	.	.	.	.	.	.	.	G	5.524	0.281676	0.10458	0.001362	0.0	ENSG00000120328	ENST00000541609;ENST00000239450;ENST00000507840	T;T	0.47869	0.83;0.83	3.41	-2.8	0.05823	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.27524	0.0676	N	0.25890	0.77	0.09310	N	0.999999	B	0.18968	0.032	B	0.22386	0.039	T	0.26360	-1.0105	9	0.46703	T	0.11	.	1.5326	0.02539	0.1883:0.1095:0.3445:0.3576	.	508	Q9Y5F1	PCDBC_HUMAN	T	171;508;128	ENSP00000440199:A171T;ENSP00000239450:A508T	ENSP00000239450:A508T	A	+	1	0	PCDHB12	140570185	0.000000	0.05858	0.007000	0.13788	0.211000	0.24417	-2.050000	0.01404	-0.244000	0.09639	-0.663000	0.03849	GCG		0.677	PCDHB12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251815.2	NM_018932		76	179	0	0	0	1	0	76	179				
UFL1	23376	broad.mit.edu	37	6	96997424	96997424	+	Silent	SNP	T	T	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr6:96997424T>C	ENST00000369278.4	+	14	1723	c.1657T>C	c.(1657-1659)Tta>Cta	p.L553L		NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN	UFM1-specific ligase 1	553					negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of protein ubiquitination (GO:0031397)|osteoblast differentiation (GO:0001649)|protein ufmylation (GO:0071569)|regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032434)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nucleus (GO:0005634)	UFM1 conjugating enzyme activity (GO:0071568)										TAACATTAGGTTATTTGAAAA	0.318																																						ENST00000369278.4																			0											c.(1657-1659)Tta>Cta		UFM1-specific ligase 1							59.0	58.0	58.0					6																	96997424		2203	4298	6501	SO:0001819	synonymous_variant	23376				negative regulation of NF-kappaB transcription factor activity|negative regulation of protein ubiquitination|protein ufmylation	endoplasmic reticulum|nucleus	protein binding|UFM1 conjugating enzyme activity	g.chr6:96997424T>C	BC036379	CCDS5034.1	6q16.3	2011-08-18	2011-08-18	2011-08-18	ENSG00000014123	ENSG00000014123			23039	protein-coding gene	gene with protein product	"""novel LZAP-binding protein"", ""Regulator of CDK5RAP3 and DDRGK1"""	613372	"""KIAA0776"""	KIAA0776		20018847, 20164180, 20228063, 20531390	Standard	NM_015323		Approved	NLBP, Maxer, RCAD	uc003por.3	O94874	OTTHUMG00000015238	ENST00000369278.4:c.1657T>C	6.37:g.96997424T>C							p.L553L	NM_015323.4	NP_056138.1	O94874	UFL1_HUMAN			14	1723	+			553					A0PJ53|B4DJ57|C0H5X5|Q8N765|Q9NTQ0	Silent	SNP	ENST00000369278.4	37	c.1657T>C	CCDS5034.1																																																																																				0.318	UFL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041557.1	NM_015323		11	33	0	0	0	1	0	11	33				
PLEC	5339	broad.mit.edu	37	8	144991258	144991258	+	Missense_Mutation	SNP	C	C	T	rs370769102		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr8:144991258C>T	ENST00000322810.4	-	32	13311	c.13142G>A	c.(13141-13143)cGc>cAc	p.R4381H	PLEC_ENST00000345136.3_Missense_Mutation_p.R4244H|PLEC_ENST00000356346.3_Missense_Mutation_p.R4230H|PLEC_ENST00000354958.2_Missense_Mutation_p.R4222H|PLEC_ENST00000398774.2_Missense_Mutation_p.R4212H|PLEC_ENST00000436759.2_Missense_Mutation_p.R4271H|PLEC_ENST00000354589.3_Missense_Mutation_p.R4244H|PLEC_ENST00000357649.2_Missense_Mutation_p.R4248H|PLEC_ENST00000527096.1_Missense_Mutation_p.R4267H	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	4381	Globular 2.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GGAACGGGAGCGGAAACCACC	0.667																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(13141-13143)cGc>cAc		plectin		C	HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG,HIS/ARG	1,4253		0,1,2126	50.0	66.0	61.0		12812,12689,12665,13142,12635,12731,12743,12731	5.2	1.0	8		61	0,8448		0,0,4224	no	missense,missense,missense,missense,missense,missense,missense,missense	PLEC	NM_000445.3,NM_201378.2,NM_201379.1,NM_201380.2,NM_201381.1,NM_201382.2,NM_201383.1,NM_201384.1	29,29,29,29,29,29,29,29	0,1,6350	TT,TC,CC		0.0,0.0235,0.0079	possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging,possibly-damaging	4271/4575,4230/4534,4222/4526,4381/4685,4212/4516,4244/4548,4248/4552,4244/4548	144991258	1,12701	2127	4224	6351	SO:0001583	missense	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144991258C>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.13142G>A	8.37:g.144991258C>T	ENSP00000323856:p.Arg4381His					PLEC_ENST00000356346.3_Missense_Mutation_p.R4230H|PLEC_ENST00000398774.2_Missense_Mutation_p.R4212H|PLEC_ENST00000436759.2_Missense_Mutation_p.R4271H|PLEC_ENST00000527096.1_Missense_Mutation_p.R4267H|PLEC_ENST00000354589.3_Missense_Mutation_p.R4244H|PLEC_ENST00000345136.3_Missense_Mutation_p.R4244H|PLEC_ENST00000357649.2_Missense_Mutation_p.R4248H|PLEC_ENST00000354958.2_Missense_Mutation_p.R4222H	p.R4381H	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			32	13311	-			4381			Globular 2.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Missense_Mutation	SNP	ENST00000322810.4	37	c.13142G>A	CCDS43772.1	.	.	.	.	.	.	.	.	.	.	C	8.938	0.965221	0.18583	2.35E-4	0.0	ENSG00000178209	ENST00000345136;ENST00000357649;ENST00000354589;ENST00000398774;ENST00000322810;ENST00000354958;ENST00000356346;ENST00000436759;ENST00000527096	T;T;T;T;T;T;T;T;T	0.77229	-1.05;-1.05;-1.08;-1.08;-1.07;-1.05;-1.05;-1.05;-1.05	5.24	5.24	0.73138	.	0.000000	0.56097	U	0.000022	T	0.73999	0.3659	L	0.54323	1.7	0.54753	D	0.999987	P;P;P;P;P;P;P;P	0.49559	0.925;0.925;0.925;0.877;0.925;0.925;0.925;0.925	B;B;B;B;B;B;B;B	0.38327	0.271;0.271;0.271;0.139;0.271;0.271;0.271;0.271	T	0.79329	-0.1848	10	0.66056	D	0.02	.	18.6231	0.91328	0.0:1.0:0.0:0.0	.	4271;4230;4222;4381;4212;4244;4248;4244	Q15149-2;Q15149-9;Q15149-8;Q15149;Q15149-7;Q15149-5;Q15149-6;Q15149-4	.;.;.;PLEC_HUMAN;.;.;.;.	H	4244;4248;4244;4212;4381;4222;4230;4271;4267	ENSP00000344848:R4244H;ENSP00000350277:R4248H;ENSP00000346602:R4244H;ENSP00000381756:R4212H;ENSP00000323856:R4381H;ENSP00000347044:R4222H;ENSP00000348702:R4230H;ENSP00000388180:R4271H;ENSP00000434583:R4267H	ENSP00000323856:R4381H	R	-	2	0	PLEC	145063246	1.000000	0.71417	1.000000	0.80357	0.189000	0.23516	5.861000	0.69553	2.726000	0.93360	0.549000	0.68633	CGC		0.667	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		30	67	0	0	0	1	0	30	67				
NDUFS2	4720	broad.mit.edu	37	1	161173235	161173235	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:161173235G>A	ENST00000367993.3	+	3	552	c.104G>A	c.(103-105)cGg>cAg	p.R35Q	NDUFS2_ENST00000476409.2_Intron|NDUFS2_ENST00000392179.4_Missense_Mutation_p.R35Q	NM_004550.4	NP_004541.1	O75306	NDUS2_HUMAN	NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)	35					cellular metabolic process (GO:0044237)|mitochondrial electron transport, NADH to ubiquinone (GO:0006120)|respiratory electron transport chain (GO:0022904)|response to oxidative stress (GO:0006979)|small molecule metabolic process (GO:0044281)	mitochondrial inner membrane (GO:0005743)|mitochondrial respiratory chain complex I (GO:0005747)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|electron carrier activity (GO:0009055)|metal ion binding (GO:0046872)|NAD binding (GO:0051287)|NADH dehydrogenase (ubiquinone) activity (GO:0008137)|quinone binding (GO:0048038)			breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	18	all_cancers(52;1.16e-17)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.00376)		Doxorubicin(DB00997)	AGAGGTGTTCGGCAGTGGCAG	0.537																																						ENST00000392179.4																			0				breast(2)|endometrium(1)|kidney(2)|large_intestine(3)|lung(8)|prostate(1)|skin(1)	18						c.(103-105)cGg>cAg		NADH dehydrogenase (ubiquinone) Fe-S protein 2, 49kDa (NADH-coenzyme Q reductase)	NADH(DB00157)						66.0	61.0	63.0					1																	161173235		2203	4300	6503	SO:0001583	missense	4720				mitochondrial electron transport, NADH to ubiquinone|response to oxidative stress|transport	mitochondrial respiratory chain complex I	4 iron, 4 sulfur cluster binding|electron carrier activity|metal ion binding|NAD binding|NADH dehydrogenase (ubiquinone) activity|protein binding|quinone binding	g.chr1:161173235G>A	BC008868	CCDS1224.1, CCDS53404.1	1q23.3	2011-07-04	2002-08-29		ENSG00000158864	ENSG00000158864	1.6.5.3	"""Mitochondrial respiratory chain complex / Complex I"""	7708	protein-coding gene	gene with protein product	"""complex I 49kDa subunit"", ""NADH dehydrogenase [ubiquinone] iron-sulfur protein 2, mitochondrial"""	602985	"""NADH dehydrogenase (ubiquinone) Fe-S protein 2 (49kD) (NADH-coenzyme Q reductase)"""			1832859, 9585441	Standard	NM_004550		Approved	CI-49	uc001fyw.3	O75306	OTTHUMG00000034344	ENST00000367993.3:c.104G>A	1.37:g.161173235G>A	ENSP00000356972:p.Arg35Gln					NDUFS2_ENST00000367993.3_Missense_Mutation_p.R35Q|NDUFS2_ENST00000476409.2_Intron	p.R35Q	NM_001166159.1	NP_001159631.1	O75306	NDUS2_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.00376)		2	343	+	all_cancers(52;1.16e-17)|all_hematologic(112;0.093)		35					D3DVG7|J3KPM7|Q5VTW0|Q969P3|Q9UEV3	Missense_Mutation	SNP	ENST00000367993.3	37	c.104G>A	CCDS1224.1	.	.	.	.	.	.	.	.	.	.	G	17.46	3.394378	0.62066	.	.	ENSG00000158864	ENST00000367993;ENST00000392179	D;D	0.85258	-1.95;-1.96	4.94	4.94	0.65067	.	0.079450	0.51477	D	0.000087	T	0.53384	0.1793	N	0.08118	0	0.80722	D	1	B;B	0.18310	0.027;0.027	B;B	0.12156	0.007;0.007	T	0.55585	-0.8118	10	0.27785	T	0.31	.	7.3147	0.26493	0.1779:0.0:0.8221:0.0	.	35;35	Q53HG2;O75306	.;NDUS2_HUMAN	Q	35	ENSP00000356972:R35Q;ENSP00000376018:R35Q	ENSP00000356972:R35Q	R	+	2	0	NDUFS2	159439859	1.000000	0.71417	0.999000	0.59377	0.982000	0.71751	2.927000	0.48900	2.563000	0.86464	0.655000	0.94253	CGG		0.537	NDUFS2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083015.1	NM_004550		16	27	0	0	0	1	0	16	27				
ADAMTS16	170690	broad.mit.edu	37	5	5232626	5232626	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr5:5232626C>T	ENST00000274181.7	+	12	1985	c.1847C>T	c.(1846-1848)cCc>cTc	p.P616L		NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 16	616	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.				branching involved in ureteric bud morphogenesis (GO:0001658)	proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						TGCACCAACCCCAAGTAAGTA	0.527																																						ENST00000274181.7																			0				breast(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(12)|lung(72)|ovary(4)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	107						c.(1846-1848)cCc>cTc		ADAM metallopeptidase with thrombospondin type 1 motif, 16							95.0	105.0	102.0					5																	5232626		2165	4278	6443	SO:0001583	missense	170690				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:5232626C>T	AJ315734	CCDS43299.1	5p15	2008-07-18	2005-08-19		ENSG00000145536	ENSG00000145536		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17108	protein-coding gene	gene with protein product		607510	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 16"""			11867212	Standard	NM_139056		Approved	ADAMTS16s	uc003jdl.3	Q8TE57	OTTHUMG00000161663	ENST00000274181.7:c.1847C>T	5.37:g.5232626C>T	ENSP00000274181:p.Pro616Leu						p.P616L	NM_139056.2	NP_620687.2	Q8TE57	ATS16_HUMAN			12	1985	+			616			TSP type-1 1.		C6G490|Q8IVE2	Missense_Mutation	SNP	ENST00000274181.7	37	c.1847C>T	CCDS43299.1	.	.	.	.	.	.	.	.	.	.	C	17.73	3.461898	0.63513	.	.	ENSG00000145536	ENST00000274181;ENST00000536857	T	0.54479	0.57	5.18	5.18	0.71444	.	0.000000	0.85682	D	0.000000	D	0.82747	0.5104	H	0.97365	3.99	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.89246	0.3587	10	0.87932	D	0	.	17.4795	0.87669	0.0:1.0:0.0:0.0	.	616;616	Q8TE57;Q8TE57-2	ATS16_HUMAN;.	L	616	ENSP00000274181:P616L	ENSP00000274181:P616L	P	+	2	0	ADAMTS16	5285626	1.000000	0.71417	0.996000	0.52242	0.058000	0.15608	7.442000	0.80503	2.418000	0.82041	0.491000	0.48974	CCC		0.527	ADAMTS16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365657.1	NM_139056		27	67	0	0	0	1	0	27	67				
TRAV10	28676	broad.mit.edu	37	14	22294132	22294132	+	RNA	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr14:22294132C>T	ENST00000390432.2	+	0	272									T cell receptor alpha variable 10																		AACACAAAGTCGAACGGAAGA	0.478																																						ENST00000390432.2																			0																				107.0	106.0	106.0					14																	22294132		2082	4213	6295			28676							g.chr14:22294132C>T	AE000659		14q11.2	2012-02-07			ENSG00000211784	ENSG00000211784		"""T cell receptors / TRA locus"""	12103	other	T cell receptor gene						8188290	Standard	NG_001332		Approved	TCRAV10S1, TCRAV24S1			OTTHUMG00000168988		14.37:g.22294132C>T														0	272	+									RNA	SNP	ENST00000390432.2	37																																																																																						0.478	TRAV10-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	TR_V_gene	TR_V_gene	OTTHUMT00000401886.1	NG_001332		36	43	0	0	0	1	0	36	43				
CBFA2T2	9139	broad.mit.edu	37	20	32207330	32207330	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr20:32207330C>T	ENST00000346541.3	+	5	992	c.455C>T	c.(454-456)aCa>aTa	p.T152I	CBFA2T2_ENST00000375279.2_Missense_Mutation_p.T152I|CBFA2T2_ENST00000397800.1_Missense_Mutation_p.T123I|CBFA2T2_ENST00000342704.6_Missense_Mutation_p.T143I|CBFA2T2_ENST00000344201.3_Missense_Mutation_p.T123I|CBFA2T2_ENST00000492345.1_Missense_Mutation_p.T123I|CBFA2T2_ENST00000359606.3_Missense_Mutation_p.T162I|CBFA2T2_ENST00000397798.2_Missense_Mutation_p.T123I	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN	core-binding factor, runt domain, alpha subunit 2; translocated to, 2	152	TAFH. {ECO:0000255|PROSITE- ProRule:PRU00440}.				epithelial cell differentiation (GO:0030855)|negative regulation of neuron projection development (GO:0010977)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of neuron projection development (GO:0010976)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						CAGAACTCAACAGTGACAATT	0.333																																					Esophageal Squamous(174;142 1955 14837 21276 28041)	ENST00000346541.3																			0				breast(1)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(4)|lung(4)|pancreas(1)|prostate(2)|skin(2)	20						c.(454-456)aCa>aTa		core-binding factor, runt domain, alpha subunit 2; translocated to, 2							76.0	78.0	78.0					20																	32207330		2203	4300	6503	SO:0001583	missense	9139					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr20:32207330C>T	AF052210	CCDS13221.1, CCDS46590.1	20q11	2007-01-29			ENSG00000078699	ENSG00000078699		"""Zinc fingers, MYND-type"""	1536	protein-coding gene	gene with protein product		603672				9790752	Standard	XM_006723886		Approved	MTGR1, ZMYND3	uc002wze.1	O43439	OTTHUMG00000032261	ENST00000346541.3:c.455C>T	20.37:g.32207330C>T	ENSP00000262653:p.Thr152Ile					CBFA2T2_ENST00000342704.5_Missense_Mutation_p.T143I|CBFA2T2_ENST00000397800.1_Missense_Mutation_p.T123I|CBFA2T2_ENST00000375279.2_Missense_Mutation_p.T152I|CBFA2T2_ENST00000359606.3_Missense_Mutation_p.T162I|CBFA2T2_ENST00000344201.3_Missense_Mutation_p.T123I|CBFA2T2_ENST00000397798.2_Missense_Mutation_p.T123I	p.T152I	NM_005093.3	NP_005084.1	O43439	MTG8R_HUMAN			5	992	+			152			TAFH.		B2RAE6|F8W6D7|Q5TGE4|Q5TGE5|Q5TGE6|Q5TGE7|Q8IWF3|Q96B06|Q96L00|Q9H436|Q9UJP8|Q9UJP9|Q9UP24	Missense_Mutation	SNP	ENST00000346541.3	37	c.455C>T	CCDS13221.1	.	.	.	.	.	.	.	.	.	.	C	27.9	4.876518	0.91664	.	.	ENSG00000078699	ENST00000375279;ENST00000342704;ENST00000417366;ENST00000344201;ENST00000346541;ENST00000397800;ENST00000397798;ENST00000359606	T;T;T;T;T;T;T;T	0.45276	0.9;0.9;0.9;0.9;0.9;0.9;0.9;0.9	5.4	5.4	0.78164	TAFH/NHR1 (3);	0.000000	0.85682	D	0.000000	T	0.63486	0.2515	L	0.59436	1.845	0.80722	D	1	D;D	0.71674	0.998;0.998	D;D	0.85130	0.997;0.995	T	0.64931	-0.6291	10	0.66056	D	0.02	-7.4774	19.1707	0.93576	0.0:1.0:0.0:0.0	.	152;143	O43439;F8W6D7	MTG8R_HUMAN;.	I	152;143;143;123;152;123;123;162	ENSP00000364428:T152I;ENSP00000345810:T143I;ENSP00000408352:T143I;ENSP00000341865:T123I;ENSP00000262653:T152I;ENSP00000380902:T123I;ENSP00000380900:T123I;ENSP00000352622:T162I	ENSP00000345810:T143I	T	+	2	0	CBFA2T2	31670991	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	4.642000	0.61383	2.522000	0.85027	0.650000	0.86243	ACA		0.333	CBFA2T2-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000078708.2	NM_001032999		17	41	0	0	0	1	0	17	41				
CHD4	1108	broad.mit.edu	37	12	6692405	6692405	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr12:6692405C>T	ENST00000357008.2	-	26	4182	c.4019G>A	c.(4018-4020)cGt>cAt	p.R1340H	CHD4_ENST00000544484.1_Missense_Mutation_p.R1337H|SCARNA11_ENST00000516089.1_RNA|CHD4_ENST00000540960.1_5'UTR|CHD4_ENST00000309577.6_Missense_Mutation_p.R1340H|CHD4_ENST00000544040.1_Missense_Mutation_p.R1333H|RP5-940J5.6_ENST00000501075.2_RNA	NM_001273.2	NP_001264.2	Q14839	CHD4_HUMAN	chromodomain helicase DNA binding protein 4	1340					ATP-dependent chromatin remodeling (GO:0043044)|DNA duplex unwinding (GO:0032508)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|spindle assembly (GO:0051225)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|membrane (GO:0016020)|nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|NuRD complex (GO:0016581)|protein complex (GO:0043234)	ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|RNA polymerase II repressing transcription factor binding (GO:0001103)|zinc ion binding (GO:0008270)			central_nervous_system(2)	2						GACCTGTTTACGGATTCTTTT	0.567																																					Colon(32;586 792 4568 16848 45314)	ENST00000309577.6																			0				central_nervous_system(2)	2						c.(4018-4020)cGt>cAt		chromodomain helicase DNA binding protein 4							185.0	176.0	179.0					12																	6692405		2203	4300	6503	SO:0001583	missense	1108				chromatin modification|regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	microtubule organizing center|NuRD complex	ATP binding|ATP-dependent DNA helicase activity|DNA binding|zinc ion binding	g.chr12:6692405C>T	X86691	CCDS8552.1	12p13	2013-01-28				ENSG00000111642		"""Zinc fingers, PHD-type"""	1919	protein-coding gene	gene with protein product		603277				7575689, 8843877	Standard	XM_006718958		Approved	Mi-2b, Mi2-BETA	uc001qpo.3	Q14839		ENST00000357008.2:c.4019G>A	12.37:g.6692405C>T	ENSP00000349508:p.Arg1340His					CHD4_ENST00000357008.2_Missense_Mutation_p.R1340H|CHD4_ENST00000544040.1_Missense_Mutation_p.R1333H|CHD4_ENST00000544484.1_Missense_Mutation_p.R1337H|CHD4_ENST00000540960.1_5'UTR|RP5-940J5.6_ENST00000501075.2_RNA	p.R1340H			Q14839	CHD4_HUMAN			26	4182	-			1340					Q8IXZ5	Missense_Mutation	SNP	ENST00000357008.2	37	c.4019G>A	CCDS8552.1	.	.	.	.	.	.	.	.	.	.	C	32	5.118759	0.94385	.	.	ENSG00000111642	ENST00000544484;ENST00000544040;ENST00000309577;ENST00000357008;ENST00000537464	D;D;D;D	0.94092	-3.35;-3.11;-3.35;-3.1	5.96	5.96	0.96718	Domain of unknown function DUF1087 (1);	0.000000	0.85682	D	0.000000	D	0.96898	0.8987	M	0.78049	2.395	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	0.998;1.0;0.996	D	0.96740	0.9546	10	0.87932	D	0	-5.1013	20.422	0.99049	0.0:1.0:0.0:0.0	.	1340;1340;1333	Q14839-2;Q14839;F5GWX5	.;CHD4_HUMAN;.	H	1337;1333;1340;1340;1314	ENSP00000440392:R1337H;ENSP00000440542:R1333H;ENSP00000312419:R1340H;ENSP00000349508:R1340H	ENSP00000312419:R1340H	R	-	2	0	CHD4	6562666	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.461000	0.80834	2.832000	0.97577	0.655000	0.94253	CGT		0.567	CHD4-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001273		62	151	0	0	0	1	0	62	151				
SCCPDH	51097	broad.mit.edu	37	1	246929383	246929383	+	Missense_Mutation	SNP	A	A	G	rs376332446		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:246929383A>G	ENST00000366510.3	+	11	1502	c.1126A>G	c.(1126-1128)Ata>Gta	p.I376V		NM_016002.2	NP_057086.2	Q8NBX0	SCPDL_HUMAN	saccharopine dehydrogenase (putative)	376						lipid particle (GO:0005811)|membrane (GO:0016020)|midbody (GO:0030496)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	oxidoreductase activity (GO:0016491)			cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|ovary(1)	17	all_cancers(71;6.8e-05)|all_epithelial(71;7.93e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0545)|Lung NSC(105;0.0618)	all_cancers(173;0.0343)	OV - Ovarian serous cystadenocarcinoma(106;0.00323)	GBM - Glioblastoma multiforme(49;0.0896)		GGCTACCCCCATAGCTATGGT	0.403																																						ENST00000366510.3																			0				cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|lung(9)|ovary(1)	17						c.(1126-1128)Ata>Gta		saccharopine dehydrogenase (putative)		A	VAL/ILE	0,4406		0,0,2203	163.0	173.0	170.0		1126	6.0	1.0	1		170	1,8599	1.2+/-3.3	0,1,4299	no	missense	SCCPDH	NM_016002.2	29	0,1,6502	GG,GA,AA		0.0116,0.0,0.0077	possibly-damaging	376/430	246929383	1,13005	2203	4300	6503	SO:0001583	missense	51097					midbody	binding|saccharopine dehydrogenase (NAD+, L-glutamate-forming) activity	g.chr1:246929383A>G		CCDS31084.1	1q44	2009-11-06			ENSG00000143653	ENSG00000143653			24275	protein-coding gene	gene with protein product						10810093	Standard	NM_016002		Approved	CGI-49, NET11	uc001ibr.3	Q8NBX0	OTTHUMG00000040221	ENST00000366510.3:c.1126A>G	1.37:g.246929383A>G	ENSP00000355467:p.Ile376Val						p.I376V	NM_016002.2	NP_057086.2	Q8NBX0	SCPDH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00323)	GBM - Glioblastoma multiforme(49;0.0896)	11	1502	+	all_cancers(71;6.8e-05)|all_epithelial(71;7.93e-06)|Ovarian(71;0.0173)|Breast(184;0.0318)|all_lung(81;0.0545)|Lung NSC(105;0.0618)	all_cancers(173;0.0343)	376					Q8TAR0|Q9Y363	Missense_Mutation	SNP	ENST00000366510.3	37	c.1126A>G	CCDS31084.1	.	.	.	.	.	.	.	.	.	.	A	15.40	2.821781	0.50633	0.0	1.16E-4	ENSG00000143653	ENST00000366510;ENST00000366509	T	0.41400	1.0	6.02	6.02	0.97574	.	0.000000	0.85682	D	0.000000	T	0.48021	0.1477	L	0.39633	1.23	0.80722	D	1	P	0.52061	0.95	P	0.55577	0.779	T	0.27839	-1.0062	10	0.19147	T	0.46	.	15.1157	0.72401	1.0:0.0:0.0:0.0	.	376	Q8NBX0	SCPDL_HUMAN	V	376;188	ENSP00000355467:I376V	ENSP00000355466:I188V	I	+	1	0	SCCPDH	244996006	1.000000	0.71417	1.000000	0.80357	0.948000	0.59901	6.241000	0.72369	2.311000	0.77944	0.533000	0.62120	ATA		0.403	SCCPDH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096902.2	NM_016002		45	97	0	0	0	1	0	45	97				
GRM7	2917	broad.mit.edu	37	3	7728108	7728108	+	Intron	SNP	A	A	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr3:7728108A>C	ENST00000357716.4	+	9	2972				GRM7_ENST00000389336.4_Intron|GRM7_ENST00000403881.1_Intron|GRM7_ENST00000486284.1_Silent_p.T921T|GRM7_ENST00000402647.2_Silent_p.T921T	NM_000844.3	NP_000835.1	Q14831	GRM7_HUMAN	glutamate receptor, metabotropic 7						adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|adult behavior (GO:0030534)|conditioned taste aversion (GO:0001661)|multicellular organismal response to stress (GO:0033555)|negative regulation of adenylate cyclase activity (GO:0007194)|negative regulation of cAMP biosynthetic process (GO:0030818)|negative regulation of glutamate secretion (GO:0014050)|regulation of cyclase activity (GO:0031279)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|short-term memory (GO:0007614)|synaptic transmission (GO:0007268)|transmission of nerve impulse (GO:0019226)	asymmetric synapse (GO:0032279)|axon (GO:0030424)|cell cortex (GO:0005938)|dendrite (GO:0030425)|dendritic shaft (GO:0043198)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|presynaptic active zone (GO:0048786)|presynaptic membrane (GO:0042734)|receptor complex (GO:0043235)	adenylate cyclase inhibitor activity (GO:0010855)|calcium channel regulator activity (GO:0005246)|calcium ion binding (GO:0005509)|glutamate binding (GO:0016595)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)|PDZ domain binding (GO:0030165)|serine binding (GO:0070905)|voltage-gated calcium channel activity (GO:0005245)			breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						TCCCACCAACAGTATAGCTTT	0.323																																						ENST00000486284.1																			0				breast(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(14)|lung(35)|ovary(4)|prostate(2)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	76						c.(2761-2763)acA>acC		glutamate receptor, metabotropic 7	L-Glutamic Acid(DB00142)						67.0	67.0	67.0					3																	7728108		2203	4298	6501	SO:0001627	intron_variant	2917				negative regulation of adenylate cyclase activity|negative regulation of cAMP biosynthetic process|negative regulation of glutamate secretion|sensory perception of smell|sensory perception of sound|synaptic transmission	asymmetric synapse|axon|cell cortex|dendritic shaft|integral to plasma membrane|postsynaptic membrane|presynaptic active zone	adenylate cyclase inhibitor activity|calcium ion binding|glutamate binding|group III metabotropic glutamate receptor activity|PDZ domain binding|serine binding	g.chr3:7728108A>C	U92458	CCDS43042.1	3p26-p25	2014-06-12			ENSG00000196277	ENSG00000196277		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4599	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 87"""	604101				8288585, 8840028	Standard	NM_000844		Approved	GLUR7, GPRC1G, mGlu7, MGLUR7, PPP1R87	uc003bql.2	Q14831	OTTHUMG00000125549	ENST00000357716.4:c.2698+6126A>C	3.37:g.7728108A>C						GRM7_ENST00000403881.1_Intron|GRM7_ENST00000402647.2_Silent_p.T921T|GRM7_ENST00000357716.4_Intron|GRM7_ENST00000389336.4_Intron	p.T921T	NM_181874.2	NP_870989.1	Q14831	GRM7_HUMAN			10	3037	+			0					Q8NFS2|Q8NFS3|Q8NFS4	Silent	SNP	ENST00000357716.4	37	c.2763A>C	CCDS43042.1																																																																																				0.323	GRM7-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000246895.3	NM_000844		7	18	0	0	0	1	0	7	18				
EP400	57634	broad.mit.edu	37	12	132547087	132547087	+	Silent	SNP	G	G	A	rs12366766	byFrequency	TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr12:132547087G>A	ENST00000333577.4	+	48	8392	c.8283G>A	c.(8281-8283)caG>caA	p.Q2761Q	EP400_ENST00000389561.2_Silent_p.Q2725Q|EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389562.2_Silent_p.Q2724Q			Q96L91	EP400_HUMAN	E1A binding protein p400	2761	Interaction with ZNF42. {ECO:0000250}.|Poly-Gln.				chromatin organization (GO:0006325)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)	NuA4 histone acetyltransferase complex (GO:0035267)|nuclear speck (GO:0016607)|nucleoplasm (GO:0005654)|Swr1 complex (GO:0000812)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|helicase activity (GO:0004386)	p.Q2724Q(16)|p.Q2725Q(1)		NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)		agcagcagcagcaacaacagc	0.562													G|||	37	0.00738818	0.0038	0.0072	5008	,	,		15585	0.002		0.0149	False		,,,				2504	0.0102					ENST00000333577.4																			17	Substitution - coding silent(17)	p.Q2724Q(16)|p.Q2725Q(1)	prostate(4)|kidney(4)|central_nervous_system(3)|lung(3)|endometrium(2)|urinary_tract(1)	NS(1)|breast(6)|central_nervous_system(10)|cervix(1)|endometrium(21)|kidney(13)|large_intestine(25)|lung(56)|ovary(5)|prostate(8)|skin(6)|stomach(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	161						c.(8281-8283)caG>caA		E1A binding protein p400							28.0	31.0	30.0					12																	132547087		2199	4282	6481	SO:0001819	synonymous_variant	57634				histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent	NuA4 histone acetyltransferase complex|nuclear speck	ATP binding|DNA binding|helicase activity	g.chr12:132547087G>A	U80743	CCDS31929.1, CCDS31929.2	12q24.33	2008-02-01	2002-02-05	2002-02-08		ENSG00000183495			11958	protein-coding gene	gene with protein product		606265	"""trinucleotide repeat containing 12"""	TNRC12		9225980, 11509179	Standard	NM_015409		Approved	CAGH32, KIAA1498, P400, KIAA1818, DKFZP434I225	uc001ujn.3	Q96L91		ENST00000333577.4:c.8283G>A	12.37:g.132547087G>A						EP400_ENST00000330386.6_Silent_p.Q2644Q|EP400_ENST00000332482.4_Silent_p.Q2688Q|EP400_ENST00000389562.2_Silent_p.Q2724Q|EP400_ENST00000389561.2_Silent_p.Q2725Q	p.Q2761Q			Q96L91	EP400_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;3.01e-08)|Epithelial(86;3.43e-07)|all cancers(50;2.01e-06)	48	8392	+	all_neural(191;0.0982)|Medulloblastoma(191;0.163)	all_epithelial(31;0.198)	2761			Interaction with ZNF42 (By similarity).|Poly-Gln.		O15411|Q6P2F5|Q8N8Q7|Q8NE05|Q96JK7|Q9P230	Silent	SNP	ENST00000333577.4	37	c.8283G>A																																																																																					0.562	EP400-203	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_015409		6	57	0	0	0	1	0	6	57				
GBA2	57704	broad.mit.edu	37	9	35737883	35737883	+	Silent	SNP	G	G	A	rs143345363	byFrequency	TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr9:35737883G>A	ENST00000378103.3	-	16	2890	c.2367C>T	c.(2365-2367)aaC>aaT	p.N789N	GBA2_ENST00000378094.4_Silent_p.N789N|GBA2_ENST00000545786.1_Silent_p.N795N|GBA2_ENST00000467252.1_5'Flank|GBA2_ENST00000378088.1_Silent_p.N90N	NM_020944.2	NP_065995.1	Q9HCG7	GBA2_HUMAN	glucosidase, beta (bile acid) 2	789					bile acid metabolic process (GO:0008206)|cell death (GO:0008219)|central nervous system neuron development (GO:0021954)|glucosylceramide catabolic process (GO:0006680)|glycoside catabolic process (GO:0016139)|glycosphingolipid metabolic process (GO:0006687)|small molecule metabolic process (GO:0044281)|sphingolipid metabolic process (GO:0006665)	Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|smooth endoplasmic reticulum (GO:0005790)	beta-glucosidase activity (GO:0008422)|glucosylceramidase activity (GO:0004348)			NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21	all_epithelial(49;0.167)		Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)			AGGCCTGGACGTTCAGCTCAA	0.547													G|||	2	0.000399361	0.0	0.0	5008	,	,		20666	0.0		0.002	False		,,,				2504	0.0					ENST00000378094.4																			0				NS(1)|kidney(3)|large_intestine(5)|lung(5)|ovary(4)|skin(3)	21						c.(2365-2367)aaC>aaT		glucosidase, beta (bile acid) 2		G		0,4406		0,0,2203	60.0	57.0	58.0		2367	-6.2	0.9	9	dbSNP_134	58	2,8598	2.2+/-6.3	0,2,4298	no	coding-synonymous	GBA2	NM_020944.2		0,2,6501	AA,AG,GG		0.0233,0.0,0.0154		789/928	35737883	2,13004	2203	4300	6503	SO:0001819	synonymous_variant	57704				bile acid metabolic process|glucosylceramide catabolic process|O-glycoside catabolic process	integral to membrane|microsome|plasma membrane|smooth endoplasmic reticulum	beta-glucosidase activity|glucosylceramidase activity	g.chr9:35737883G>A	AJ309567	CCDS6589.1	9p13.2	2013-09-11			ENSG00000070610	ENSG00000070610			18986	protein-coding gene	gene with protein product	"""bile acid beta-glucosidase"", ""non-lysosomal glucosylceramidase"""	609471	"""spastic paraplegia 46 (autosomal recessive)"""	SPG46		11489889, 23332916, 23332917	Standard	NM_020944		Approved	KIAA1605, AD035, DKFZp762K054	uc003zxw.3	Q9HCG7	OTTHUMG00000021024	ENST00000378103.3:c.2367C>T	9.37:g.35737883G>A						GBA2_ENST00000378103.3_Silent_p.N789N|GBA2_ENST00000378088.1_Silent_p.N90N|GBA2_ENST00000545786.1_Silent_p.N795N	p.N789N			Q9HCG7	GBA2_HUMAN	Lung(28;0.00416)|LUSC - Lung squamous cell carcinoma(32;0.00418)|STAD - Stomach adenocarcinoma(86;0.194)		16	2880	-	all_epithelial(49;0.167)		789					D3DRP2|Q5TCV6|Q96A51|Q96LY1|Q96SJ2|Q9H2L8	Silent	SNP	ENST00000378103.3	37	c.2367C>T	CCDS6589.1																																																																																				0.547	GBA2-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000055456.1	NM_020944		17	42	0	0	0	1	0	17	42				
COLCA1	399948	broad.mit.edu	37	11	111166902	111166902	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:111166902C>T	ENST00000532918.1	-	2	2707	c.302G>A	c.(301-303)aGa>aAa	p.R101K	COLCA1_ENST00000355430.4_Missense_Mutation_p.R101K|COLCA1_ENST00000540738.1_Missense_Mutation_p.R101K|COLCA1_ENST00000526150.1_5'Flank			Q6ZS62	COLC1_HUMAN	colorectal cancer associated 1	101						integral component of membrane (GO:0016021)|membrane (GO:0016020)											ATCTAGTTTTCTGAAATCGCT	0.453																																						ENST00000532918.1																			0				endometrium(1)|large_intestine(1)|lung(1)	3						c.(301-303)aGa>aAa									66.0	68.0	68.0					11																	111166902		2201	4297	6498	SO:0001583	missense	399948							g.chr11:111166902C>T	AK127703		11q23.1	2013-08-22	2013-08-22	2013-08-22	ENSG00000196167	ENSG00000196167			33789	other	unknown	"""cancer susceptibility candidate 12"""	615693	"""chromosome 11 open reading frame 92"""	C11orf92			Standard	NR_034154		Approved	FLJ45803, CASC12	uc001pld.3	Q6ZS62	OTTHUMG00000166658	ENST00000532918.1:c.302G>A	11.37:g.111166902C>T	ENSP00000437253:p.Arg101Lys					C11orf92_ENST00000540738.1_Missense_Mutation_p.R101K|C11orf92_ENST00000355430.4_Missense_Mutation_p.R101K	p.R101K							2	2707	-									Missense_Mutation	SNP	ENST00000532918.1	37	c.302G>A		.	.	.	.	.	.	.	.	.	.	C	10.99	1.508470	0.27036	.	.	ENSG00000196167	ENST00000532918;ENST00000355430;ENST00000540738	.	.	.	4.54	3.45	0.39498	.	.	.	.	.	T	0.41994	0.1183	.	.	.	0.09310	N	1	P	0.44139	0.827	P	0.46543	0.52	T	0.30208	-0.9986	7	0.87932	D	0	.	6.7179	0.23314	0.0:0.8332:0.0:0.1668	.	101	Q6ZS62	CK092_HUMAN	K	101	.	ENSP00000347601:R101K	R	-	2	0	C11orf92	110672112	0.000000	0.05858	0.002000	0.10522	0.001000	0.01503	0.498000	0.22530	1.011000	0.39340	0.462000	0.41574	AGA		0.453	COLCA1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000390999.1			20	82	0	0	0	1	0	20	82				
KANSL1L	151050	broad.mit.edu	37	2	210968862	210968862	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:210968862C>A	ENST00000281772.9	-	4	1657	c.1394G>T	c.(1393-1395)aGc>aTc	p.S465I	KANSL1L_ENST00000457374.1_Missense_Mutation_p.S465I|KANSL1L_ENST00000418791.1_Missense_Mutation_p.S465I|KANSL1L_ENST00000452086.1_Missense_Mutation_p.S465I	NM_152519.2	NP_689732.2	A0AUZ9	KAL1L_HUMAN	KAT8 regulatory NSL complex subunit 1-like	465						histone acetyltransferase complex (GO:0000123)											TAAAGTAGGGCTGCTTGGTGA	0.393																																						ENST00000281772.9																			0											c.(1393-1395)aGc>aTc		KAT8 regulatory NSL complex subunit 1-like							121.0	113.0	116.0					2																	210968862		2203	4300	6503	SO:0001583	missense	151050							g.chr2:210968862C>A	AK074441	CCDS33370.1	2q34	2012-02-20	2012-02-20	2012-02-20	ENSG00000144445	ENSG00000144445			26310	protein-coding gene	gene with protein product	"""KIAA1267-like"""	613833	"""chromosome 2 open reading frame 67"""	C2orf67		12477932	Standard	NM_152519		Approved	FLJ23861, FLJ32349, MSL1v2, KIAA1267L	uc002vds.3	A0AUZ9	OTTHUMG00000154697	ENST00000281772.9:c.1394G>T	2.37:g.210968862C>A	ENSP00000281772:p.Ser465Ile					KANSL1L_ENST00000452086.1_Missense_Mutation_p.S465I|KANSL1L_ENST00000418791.1_Missense_Mutation_p.S465I|KANSL1L_ENST00000457374.1_Missense_Mutation_p.S465I	p.S465I	NM_152519.2	NP_689732.2	A0AUZ9	CB067_HUMAN			4	1657	-			465					B7ZLN1|I6L9A8|Q53TV8|Q53TW3|Q6IS05|Q8TCI1|Q96MI0|Q9UFC3	Missense_Mutation	SNP	ENST00000281772.9	37	c.1394G>T	CCDS33370.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	C|C|C	23.2|23.2|23.2	4.388634|4.388634|4.388634	0.82902|0.82902|0.82902	.|.|.	.|.|.	ENSG00000144445|ENSG00000144445|ENSG00000144445	ENST00000438563;ENST00000415553|ENST00000428655|ENST00000281772;ENST00000418791;ENST00000457374;ENST00000452086	.|.|.	.|.|.	.|.|.	5.25|5.25|5.25	5.25|5.25|5.25	0.73442|0.73442|0.73442	.|.|.	.|.|0.000000	.|.|0.85682	.|.|D	.|.|0.000000	T|T|T	0.77157|0.77157|0.77157	0.4089|0.4089|0.4089	L|L|L	0.56769|0.56769|0.56769	1.78|1.78|1.78	0.51482|0.51482|0.51482	D|D|D	0.999924|0.999924|0.999924	.|.|D;P;D;D	.|.|0.76494	.|.|0.996;0.89;0.999;0.999	.|.|P;P;D;D	.|.|0.83275	.|.|0.902;0.622;0.996;0.996	T|T|T	0.76113|0.76113|0.76113	-0.3078|-0.3078|-0.3078	5|5|9	.|.|0.45353	.|.|T	.|.|0.12	.|.|.	19.2089|19.2089|19.2089	0.93746|0.93746|0.93746	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.|.	.|.|465;465;465;465	.|.|A0AUZ9-4;A0AUZ9-3;A0AUZ9-2;A0AUZ9	.|.|.;.;.;CB067_HUMAN	S|H|I	139;184|159|465	.|.|.	.|.|ENSP00000281772:S465I	A|Q|S	-|-|-	1|3|2	0|2|0	C2orf67|C2orf67|C2orf67	210677107|210677107|210677107	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.999000|0.999000|0.999000	0.98932|0.98932|0.98932	5.610000|5.610000|5.610000	0.67668|0.67668|0.67668	2.611000|2.611000|2.611000	0.88343|0.88343|0.88343	0.585000|0.585000|0.585000	0.79938|0.79938|0.79938	GCC|CAG|AGC		0.393	KANSL1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336633.3	NM_152519		13	32	1	0	0.000151284	1	0.000155332	13	32				
ZNF628	89887	broad.mit.edu	37	19	55994845	55994845	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:55994845G>A	ENST00000598519.1	+	3	2838	c.2285G>A	c.(2284-2286)cGg>cAg	p.R762Q	NAT14_ENST00000587400.1_5'Flank|NAT14_ENST00000591590.1_5'Flank|ZNF628_ENST00000391718.2_Missense_Mutation_p.R758Q|NAT14_ENST00000205194.4_5'Flank			Q5EBL2	ZN628_HUMAN	zinc finger protein 628	762	Gly-rich.				transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(4)|kidney(1)|lung(2)	7	Breast(117;0.155)		BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)		CAGGGCCCGCGGGCAGTGGGG	0.756																																						ENST00000391718.2																			0				endometrium(4)|kidney(1)|lung(2)	7						c.(2272-2274)cGg>cAg		zinc finger protein 628							4.0	5.0	5.0					19																	55994845		1982	3888	5870	SO:0001583	missense	89887					nucleus	DNA binding|zinc ion binding	g.chr19:55994845G>A	AF367249	CCDS33116.3	19q13.43	2013-01-08			ENSG00000197483	ENSG00000197483		"""Zinc fingers, C2H2-type"""	28054	protein-coding gene	gene with protein product	"""Zinc finger expressed in Embryonal cells and Certain adult organs"""	610671					Standard	NM_033113		Approved	ZEC, Zfp628	uc002qld.3	Q5EBL2	OTTHUMG00000150396	ENST00000598519.1:c.2285G>A	19.37:g.55994845G>A	ENSP00000469591:p.Arg762Gln					ZNF628_ENST00000598519.1_Missense_Mutation_p.R762Q	p.R758Q			Q5EBL2	ZN628_HUMAN	BRCA - Breast invasive adenocarcinoma(297;0.18)|LUSC - Lung squamous cell carcinoma(43;0.193)	GBM - Glioblastoma multiforme(193;0.0531)	3	2838	+	Breast(117;0.155)		758			Gly-rich.		Q86X34	Missense_Mutation	SNP	ENST00000598519.1	37	c.2273G>A	CCDS33116.3	.	.	.	.	.	.	.	.	.	.	.	5.812	0.334092	0.11013	.	.	ENSG00000197483	ENST00000391718	T	0.06687	3.27	3.36	1.19	0.21007	.	1.238870	0.06338	N	0.707487	T	0.04679	0.0127	N	0.19112	0.55	0.09310	N	1	P	0.39782	0.688	B	0.25291	0.059	T	0.37641	-0.9697	10	0.59425	D	0.04	-16.3005	6.2948	0.21079	0.1162:0.1945:0.6893:0.0	.	758	Q5EBL2	ZN628_HUMAN	Q	758	ENSP00000375598:R758Q	ENSP00000375598:R758Q	R	+	2	0	ZNF628	60686657	0.186000	0.23225	0.001000	0.08648	0.291000	0.27294	0.203000	0.17315	0.749000	0.32854	-0.467000	0.05162	CGG		0.756	ZNF628-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317934.2	XM_058964		3	6	0	0	0	1	0	3	6				
MYO18A	399687	broad.mit.edu	37	17	27421969	27421969	+	Silent	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:27421969C>T	ENST00000527372.1	-	29	4674	c.4494G>A	c.(4492-4494)ctG>ctA	p.L1498L	MYO18A_ENST00000531253.1_Silent_p.L1498L|MYO18A_ENST00000533112.1_Silent_p.L1498L|MYO18A_ENST00000354329.4_Silent_p.L1498L	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1498					actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			GTTGCTGCTTCAGGCTGAAAG	0.632																																					Esophageal Squamous(182;472 2015 7001 15270 22562)	ENST00000527372.1																			0				NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36						c.(4492-4494)ctG>ctA		myosin XVIIIA							35.0	38.0	37.0					17																	27421969		2067	4204	6271	SO:0001819	synonymous_variant	399687				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity	g.chr17:27421969C>T	D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"""Myosins / Myosin superfamily : Class XVIII"""	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.4494G>A	17.37:g.27421969C>T						MYO18A_ENST00000531253.1_Silent_p.L1498L|MYO18A_ENST00000354329.4_Silent_p.L1498L|MYO18A_ENST00000533112.1_Silent_p.L1498L	p.L1498L	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		29	4674	-			1498					Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Silent	SNP	ENST00000527372.1	37	c.4494G>A	CCDS45642.1																																																																																				0.632	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	NM_078471		8	19	0	0	0	1	0	8	19				
CTSW	1521	broad.mit.edu	37	11	65650578	65650578	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:65650578G>A	ENST00000307886.3	+	8	830	c.784G>A	c.(784-786)Gtg>Atg	p.V262M	CTSW_ENST00000528419.1_Missense_Mutation_p.V262M|FIBP_ENST00000426652.2_5'Flank	NM_001335.3	NP_001326	P56202	CATW_HUMAN	cathepsin W	262					immune response (GO:0006955)	membrane (GO:0016020)	cysteine-type peptidase activity (GO:0008234)			central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)	9				READ - Rectum adenocarcinoma(159;0.168)		CCCCATCACCGTGACCATCAA	0.612																																						ENST00000528419.1																			0				central_nervous_system(1)|kidney(1)|large_intestine(2)|lung(5)	9						c.(784-786)Gtg>Atg		cathepsin W							199.0	173.0	182.0					11																	65650578		2201	4296	6497	SO:0001583	missense	1521				immune response|proteolysis		cysteine-type endopeptidase activity	g.chr11:65650578G>A	AF055903	CCDS8117.1	11q13.1	2008-02-01	2006-12-05		ENSG00000172543	ENSG00000172543		"""Cathepsins"""	2546	protein-coding gene	gene with protein product		602364	"""cathepsin W (lymphopain)"""			9108299, 9675123	Standard	NM_001335		Approved		uc001ogc.1	P56202	OTTHUMG00000166663	ENST00000307886.3:c.784G>A	11.37:g.65650578G>A	ENSP00000311300:p.Val262Met					CTSW_ENST00000307886.3_Missense_Mutation_p.V262M	p.V262M			P56202	CATW_HUMAN		READ - Rectum adenocarcinoma(159;0.168)	8	788	+			262					Q86VT4	Missense_Mutation	SNP	ENST00000307886.3	37	c.784G>A	CCDS8117.1	.	.	.	.	.	.	.	.	.	.	G	15.90	2.969502	0.53614	.	.	ENSG00000172543	ENST00000307886;ENST00000528419	D;D	0.90133	-2.62;-2.62	5.38	5.38	0.77491	Peptidase C1A, papain C-terminal (2);	0.000000	0.64402	D	0.000008	D	0.95611	0.8573	M	0.87328	2.875	0.44492	D	0.997433	D;D	0.89917	1.0;1.0	D;D	0.81914	0.994;0.995	D	0.96001	0.8993	10	0.72032	D	0.01	.	14.6208	0.68582	0.0:0.0:1.0:0.0	.	262;262	P56202;E9PI30	CATW_HUMAN;.	M	262	ENSP00000311300:V262M;ENSP00000436568:V262M	ENSP00000311300:V262M	V	+	1	0	CTSW	65407154	1.000000	0.71417	0.951000	0.38953	0.222000	0.24845	4.684000	0.61686	2.529000	0.85273	0.491000	0.48974	GTG		0.612	CTSW-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391042.1	NM_001335		67	186	0	0	0	1	0	67	186				
PSG8	440533	broad.mit.edu	37	19	43258544	43258544	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:43258544G>A	ENST00000306511.4	-	5	1281	c.1184C>T	c.(1183-1185)tCt>tTt	p.S395F	PSG8_ENST00000401467.2_Missense_Mutation_p.S302F|PSG8_ENST00000404209.4_Missense_Mutation_p.S395F|PSG8_ENST00000600709.1_5'UTR|PSG8_ENST00000406636.3_Missense_Mutation_p.S273F	NM_182707.2	NP_874366.1	Q9UQ74	PSG8_HUMAN	pregnancy specific beta-1-glycoprotein 8	395	Ig-like C2-type 3.					extracellular region (GO:0005576)				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40		Prostate(69;0.00899)				GTTACGAACAGAGCAAGCATA	0.448																																						ENST00000404209.4																			0				breast(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(9)|lung(19)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	40						c.(1183-1185)tCt>tTt		pregnancy specific beta-1-glycoprotein 8							187.0	202.0	197.0					19																	43258544		2203	4296	6499	SO:0001583	missense	440533					extracellular region		g.chr19:43258544G>A	M74106	CCDS33037.1, CCDS46090.1, CCDS46091.1	19q13.2	2013-01-29			ENSG00000124467	ENSG00000124467		"""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9525	protein-coding gene	gene with protein product		176397				1672663, 1572651	Standard	NM_182707		Approved		uc002ouo.2	Q9UQ74	OTTHUMG00000151118	ENST00000306511.4:c.1184C>T	19.37:g.43258544G>A	ENSP00000305005:p.Ser395Phe					PSG8_ENST00000600709.1_5'UTR|PSG8_ENST00000406636.3_Missense_Mutation_p.S273F|PSG8_ENST00000401467.2_Missense_Mutation_p.S302F|PSG8_ENST00000306511.4_Missense_Mutation_p.S395F	p.S395F	NM_001130167.1	NP_001123639.1	Q9UQ74	PSG8_HUMAN			5	1280	-		Prostate(69;0.00899)	395			Ig-like C2-type 3.		A5PKV3|B2RPL4|B4DTI6|O60410|Q68CR6	Missense_Mutation	SNP	ENST00000306511.4	37	c.1184C>T	CCDS33037.1	.	.	.	.	.	.	.	.	.	.	N	2.433	-0.330352	0.05314	.	.	ENSG00000124467	ENST00000404209;ENST00000292109;ENST00000406636;ENST00000401467;ENST00000426252;ENST00000407488;ENST00000306511	T;T;T;T	0.13778	2.56;2.56;2.56;2.56	1.28	-2.57	0.06248	Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Immunoglobulin (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.09335	0.0230	L	0.42487	1.325	0.09310	N	1	B;B;B;B;B;B	0.32324	0.191;0.085;0.364;0.02;0.045;0.056	B;B;B;B;B;B	0.39590	0.191;0.102;0.304;0.029;0.061;0.101	T	0.39482	-0.9612	9	0.08599	T	0.76	.	0.1673	0.00109	0.3599:0.2156:0.2088:0.2157	.	273;302;395;302;395;395	Q9UQ74-2;B5MCQ0;Q9UQ74;E7ENH0;Q9UQ74-3;A5PKV3	.;.;PSG8_HUMAN;.;.;.	F	395;177;273;302;207;302;395	ENSP00000385869:S395F;ENSP00000385081:S273F;ENSP00000386090:S302F;ENSP00000305005:S395F	ENSP00000292109:S177F	S	-	2	0	PSG8	47950384	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	-1.265000	0.02844	-1.879000	0.01126	-0.708000	0.03648	TCT		0.448	PSG8-008	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464526.1			92	219	0	0	0	1	0	92	219				
PVRL2	5819	broad.mit.edu	37	19	45391455	45391455	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:45391455C>T	ENST00000252483.5	+	9	1436	c.1436C>T	c.(1435-1437)cCg>cTg	p.P479L	CTB-129P6.4_ENST00000585408.1_RNA	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN	poliovirus receptor-related 2 (herpesvirus entry mediator B)	479					acrosome assembly (GO:0001675)|adherens junction organization (GO:0034332)|adhesion of symbiont to host (GO:0044406)|cell junction assembly (GO:0034329)|cell part morphogenesis (GO:0032990)|cell-cell junction organization (GO:0045216)|cilium organization (GO:0044782)|coreceptor-mediated virion attachment to host cell (GO:0046814)|cytoskeleton organization (GO:0007010)|establishment of mitochondrion localization (GO:0051654)|fertilization (GO:0009566)|fusion of virus membrane with host plasma membrane (GO:0019064)|homophilic cell adhesion (GO:0007156)|positive regulation of immunoglobulin mediated immune response (GO:0002891)|positive regulation of mast cell activation (GO:0033005)|positive regulation of natural killer cell mediated cytotoxicity (GO:0045954)|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target (GO:0002860)|regulation of immune response (GO:0050776)|signal transduction (GO:0007165)|sperm mitochondrion organization (GO:0030382)|spermatid development (GO:0007286)|spermatid nucleus differentiation (GO:0007289)|susceptibility to natural killer cell mediated cytotoxicity (GO:0042271)|susceptibility to T cell mediated cytotoxicity (GO:0060370)	cell surface (GO:0009986)|cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|zonula adherens (GO:0005915)	cell adhesion molecule binding (GO:0050839)|coreceptor activity (GO:0015026)|identical protein binding (GO:0042802)|protein homodimerization activity (GO:0042803)|virus receptor activity (GO:0001618)			breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.0143)		TCCCCCATCCCGGTGCCTCCA	0.597																																						ENST00000252483.5																			0				breast(1)|endometrium(1)|large_intestine(6)|lung(5)	13						c.(1435-1437)cCg>cTg		poliovirus receptor-related 2 (herpesvirus entry mediator B)							53.0	54.0	54.0					19																	45391455		1892	4110	6002	SO:0001583	missense	5819				adherens junction organization|adhesion to symbiont|cell junction assembly|homophilic cell adhesion|positive regulation of immunoglobulin mediated immune response|positive regulation of mast cell activation|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target|susceptibility to natural killer cell mediated cytotoxicity|susceptibility to T cell mediated cytotoxicity|viral envelope fusion with host membrane|virion attachment, binding of host cell surface coreceptor	cell surface|integral to membrane|zonula adherens	cell adhesion molecule binding|coreceptor activity|protein homodimerization activity	g.chr19:45391455C>T	X80038	CCDS12645.1, CCDS42576.1	19q13.32	2013-01-29			ENSG00000130202	ENSG00000130202		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	9707	protein-coding gene	gene with protein product		600798		HVEB		7622062, 10196354	Standard	NM_001042724		Approved	PVRR2, PRR2, CD112	uc002ozw.1	Q92692	OTTHUMG00000180839	ENST00000252483.5:c.1436C>T	19.37:g.45391455C>T	ENSP00000252483:p.Pro479Leu					CTB-129P6.4_ENST00000585408.1_RNA	p.P479L	NM_001042724.1	NP_001036189.1	Q92692	PVRL2_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0143)	9	1436	+	Lung NSC(12;0.00195)|all_lung(12;0.00522)	Ovarian(192;0.0728)|all_neural(266;0.112)	479					A8K5L5|O75455|Q6IBI6|Q96J29	Missense_Mutation	SNP	ENST00000252483.5	37	c.1436C>T	CCDS42576.1	.	.	.	.	.	.	.	.	.	.	C	0.011	-1.714695	0.00706	.	.	ENSG00000130202	ENST00000252483	T	0.80738	-1.41	4.8	2.51	0.30379	.	0.361458	0.20312	N	0.094807	T	0.47192	0.1432	N	0.01874	-0.695	0.22354	N	0.999173	B	0.02656	0.0	B	0.01281	0.0	T	0.44360	-0.9333	10	0.02654	T	1	.	4.8285	0.13428	0.0:0.0995:0.1888:0.7117	.	479	Q92692	PVRL2_HUMAN	L	479	ENSP00000252483:P479L	ENSP00000252483:P479L	P	+	2	0	PVRL2	50083295	0.651000	0.27340	0.288000	0.24862	0.360000	0.29518	0.548000	0.23314	0.386000	0.24997	-0.459000	0.05422	CCG		0.597	PVRL2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000453231.1	NM_002856		26	53	0	0	0	1	0	26	53				
DGCR2	9993	broad.mit.edu	37	22	19036128	19036128	+	Silent	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr22:19036128G>A	ENST00000263196.7	-	7	1078	c.831C>T	c.(829-831)aaC>aaT	p.N277N	DGCR11_ENST00000609958.1_RNA|DGCR2_ENST00000545799.1_3'UTR|DGCR2_ENST00000537045.1_Silent_p.N236N	NM_001184781.1|NM_005137.2	NP_001171710.1|NP_005128.1	P98153	IDD_HUMAN	DiGeorge syndrome critical region gene 2	277	VWFC.				cell adhesion (GO:0007155)|cognition (GO:0050890)|organ morphogenesis (GO:0009887)	integral component of membrane (GO:0016021)	carbohydrate binding (GO:0030246)			breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18	Colorectal(54;0.0993)					CATCCACCACGTTGTCCTTGA	0.527																																						ENST00000263196.7																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(4)|lung(9)|ovary(1)|skin(1)	18						c.(829-831)aaC>aaT		DiGeorge syndrome critical region gene 2							287.0	261.0	270.0					22																	19036128		2203	4300	6503	SO:0001819	synonymous_variant	9993				cell adhesion|organ morphogenesis	integral to membrane	receptor activity|sugar binding	g.chr22:19036128G>A	D79985	CCDS33598.1, CCDS54496.1	22q11.21	2008-06-12			ENSG00000070413	ENSG00000070413			2845	protein-coding gene	gene with protein product	"""integral membrane protein DGCR2"""	600594				7655455, 8630060	Standard	NM_005137		Approved	KIAA0163, LAN, IDD, DGS-C, SEZ-12	uc002zoq.1	P98153	OTTHUMG00000150141	ENST00000263196.7:c.831C>T	22.37:g.19036128G>A						DGCR2_ENST00000537045.1_Silent_p.N236N|DGCR2_ENST00000545799.1_3'UTR	p.N277N	NM_001184781.1|NM_005137.2	NP_001171710.1|NP_005128.1	P98153	IDD_HUMAN			7	1078	-	Colorectal(54;0.0993)		277			VWFC.		A6NIB5|A8K6K5|B5TY34|B7Z935	Silent	SNP	ENST00000263196.7	37	c.831C>T	CCDS33598.1																																																																																				0.527	DGCR2-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000316504.1	NM_005137		132	272	0	0	0	1	0	132	272				
CAMKK2	10645	broad.mit.edu	37	12	121687599	121687599	+	Silent	SNP	C	C	T	rs536615144		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr12:121687599C>T	ENST00000324774.5	-	13	2142	c.1314G>A	c.(1312-1314)ccG>ccA	p.P438P	CAMKK2_ENST00000538733.1_Silent_p.P438P|CAMKK2_ENST00000337174.3_Silent_p.P438P|CAMKK2_ENST00000404169.3_Silent_p.P438P|CAMKK2_ENST00000347034.2_Silent_p.P438P|CAMKK2_ENST00000402834.4_Silent_p.P438P|CAMKK2_ENST00000446440.2_Silent_p.P438P|CAMKK2_ENST00000545538.1_Silent_p.P225P|CAMKK2_ENST00000392474.2_Silent_p.P438P|CAMKK2_ENST00000412367.2_Silent_p.P438P|CAMKK2_ENST00000392473.2_Silent_p.P438P	NM_006549.3	NP_006540.3	Q96RR4	KKCC2_HUMAN	calcium/calmodulin-dependent protein kinase kinase 2, beta	438	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				calcium-mediated signaling (GO:0019722)|MAPK cascade (GO:0000165)|peptidyl-tyrosine phosphorylation (GO:0018108)|positive regulation of transcription, DNA-templated (GO:0045893)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|regulation of protein kinase activity (GO:0045859)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|intracellular (GO:0005622)|nucleus (GO:0005634)	ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|calmodulin-dependent protein kinase activity (GO:0004683)|protein tyrosine kinase activity (GO:0004713)			endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CCTTGATTTCCGGCACCACGA	0.602													C|||	1	0.000199681	0.0	0.0	5008	,	,		18975	0.0		0.0	False		,,,				2504	0.001					ENST00000324774.5																			0				endometrium(2)|kidney(1)|large_intestine(2)|liver(2)|lung(4)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	17						c.(1312-1314)ccG>ccA		calcium/calmodulin-dependent protein kinase kinase 2, beta							166.0	153.0	157.0					12																	121687599		2203	4300	6503	SO:0001819	synonymous_variant	10645				calcium-mediated signaling|MAPKKK cascade|positive regulation of transcription, DNA-dependent|protein autophosphorylation|regulation of protein kinase activity	cytoplasm	ATP binding|calcium ion binding|calmodulin binding|calmodulin-dependent protein kinase activity|protein tyrosine kinase activity	g.chr12:121687599C>T	AF101264	CCDS9216.1, CCDS9217.1, CCDS9218.1, CCDS9219.1, CCDS44999.1, CCDS53837.1, CCDS58283.1	12q24.2	2002-08-13				ENSG00000110931			1470	protein-coding gene	gene with protein product		615002				9662074	Standard	NM_172226		Approved	CAMKK, KIAA0787, CAMKKB, MGC15254	uc001tzu.3	Q96RR4		ENST00000324774.5:c.1314G>A	12.37:g.121687599C>T						CAMKK2_ENST00000446440.2_Silent_p.P438P|CAMKK2_ENST00000412367.2_Silent_p.P438P|CAMKK2_ENST00000404169.3_Silent_p.P438P|CAMKK2_ENST00000392474.2_Silent_p.P438P|CAMKK2_ENST00000347034.2_Silent_p.P438P|CAMKK2_ENST00000545538.1_Silent_p.P225P|CAMKK2_ENST00000337174.3_Silent_p.P438P|CAMKK2_ENST00000402834.4_Silent_p.P438P|CAMKK2_ENST00000538733.1_Silent_p.P438P|CAMKK2_ENST00000392473.2_Silent_p.P438P	p.P438P	NM_006549.3	NP_006540.3	Q96RR4	KKCC2_HUMAN			13	2142	-	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		438			Protein kinase.		A8K7Q7|O94883|Q8IUG2|Q8IUG3|Q8N3I4|Q8WY03|Q8WY04|Q8WY05|Q8WY06|Q96RP1|Q96RP2|Q96RR3|Q9BWE9|Q9UER3|Q9UES2|Q9Y5N2	Silent	SNP	ENST00000324774.5	37	c.1314G>A	CCDS9216.1																																																																																				0.602	CAMKK2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000402563.1	NM_172226		124	59	0	0	0	1	0	124	59				
TMEM132E	124842	broad.mit.edu	37	17	32954000	32954000	+	Missense_Mutation	SNP	G	G	T	rs377511363		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:32954000G>T	ENST00000321639.5	+	3	980	c.652G>T	c.(652-654)Gtg>Ttg	p.V218L		NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN	transmembrane protein 132E	218						integral component of membrane (GO:0016021)				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57				BRCA - Breast invasive adenocarcinoma(366;0.231)		GCCCGGGGAAGTGCTCAGCAT	0.657																																						ENST00000321639.5																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(10)|lung(28)|prostate(1)|skin(2)|upper_aerodigestive_tract(2)	57						c.(652-654)Gtg>Ttg		transmembrane protein 132E							66.0	64.0	64.0					17																	32954000		2203	4300	6503	SO:0001583	missense	124842					integral to membrane		g.chr17:32954000G>T	BN000149	CCDS11283.1	17q12	2012-11-01			ENSG00000181291	ENSG00000181291			26991	protein-coding gene	gene with protein product							Standard	NM_207313		Approved		uc002hif.3	Q6IEE7	OTTHUMG00000132927	ENST00000321639.5:c.652G>T	17.37:g.32954000G>T	ENSP00000316532:p.Val218Leu						p.V218L	NM_207313.1	NP_997196.1	Q6IEE7	T132E_HUMAN		BRCA - Breast invasive adenocarcinoma(366;0.231)	3	980	+			218					Q8WUF4|Q8WVA5	Missense_Mutation	SNP	ENST00000321639.5	37	c.652G>T	CCDS11283.1	.	.	.	.	.	.	.	.	.	.	G	14.87	2.665140	0.47677	.	.	ENSG00000181291	ENST00000321639	T	0.18810	2.19	5.35	3.23	0.37069	.	0.214454	0.43260	D	0.000599	T	0.15132	0.0365	L	0.39467	1.215	0.30479	N	0.772555	B	0.02656	0.0	B	0.06405	0.002	T	0.10428	-1.0630	10	0.23302	T	0.38	-16.8557	8.4498	0.32864	0.0785:0.2977:0.6238:0.0	.	218	Q6IEE7	T132E_HUMAN	L	218	ENSP00000316532:V218L	ENSP00000316532:V218L	V	+	1	0	TMEM132E	29978113	1.000000	0.71417	0.993000	0.49108	0.986000	0.74619	3.432000	0.52824	1.234000	0.43709	0.442000	0.29010	GTG		0.657	TMEM132E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256440.2	NM_207313		49	91	1	0	9.55421e-19	1	1.148e-18	49	91				
MTMR11	10903	broad.mit.edu	37	1	149901586	149901586	+	Silent	SNP	G	G	A	rs146993077		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:149901586G>A	ENST00000439741.2	-	16	2120	c.1870C>T	c.(1870-1872)Ctg>Ttg	p.L624L	MTMR11_ENST00000369140.3_Silent_p.L552L|SF3B4_ENST00000271628.8_5'Flank|MTMR11_ENST00000406732.3_3'UTR|MTMR11_ENST00000361405.6_3'UTR|MTMR11_ENST00000492824.1_5'UTR	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	myotubularin related protein 11	624	Myotubularin phosphatase. {ECO:0000255|PROSITE-ProRule:PRU00669}.						phosphatase activity (GO:0016791)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)			TACCCAGGCAGCAGCAGCCCT	0.597																																						ENST00000439741.2																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(3)|lung(13)|prostate(2)|stomach(1)|urinary_tract(4)	34						c.(1870-1872)Ctg>Ttg		myotubularin related protein 11		G	,	2,4404	4.2+/-10.8	0,2,2201	86.0	91.0	89.0		1870,1654	0.9	1.0	1	dbSNP_134	89	3,8597	2.2+/-6.3	0,3,4297	no	coding-synonymous,coding-synonymous	MTMR11	NM_001145862.1,NM_181873.3	,	0,5,6498	AA,AG,GG		0.0349,0.0454,0.0384	,	624/710,552/641	149901586	5,13001	2203	4300	6503	SO:0001819	synonymous_variant	10903						phosphatase activity	g.chr1:149901586G>A	AK097000	CCDS72901.1, CCDS72902.1	1q12-q21	2011-06-09			ENSG00000014914	ENSG00000014914		"""Protein tyrosine phosphatases / Class I Cys-based PTPs : Myotubularins"""	24307	protein-coding gene	gene with protein product	"""cisplatin resistance associated"""					12495846	Standard	NM_181873		Approved	CRA	uc001etl.4	A4FU01	OTTHUMG00000012207	ENST00000439741.2:c.1870C>T	1.37:g.149901586G>A						MTMR11_ENST00000492824.1_5'UTR|MTMR11_ENST00000361405.6_3'UTR|MTMR11_ENST00000369140.3_Silent_p.L552L|MTMR11_ENST00000406732.3_3'UTR	p.L624L	NM_001145862.1	NP_001139334.1	A4FU01	MTMRB_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.221)|STAD - Stomach adenocarcinoma(528;0.247)		16	2120	-	Breast(34;0.0009)|Ovarian(49;0.0377)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		624			Myotubularin phosphatase.		B3KUE4|B4DJI6|B4DQF5|B4E3Q6|Q3ZCP7|Q5SZ62|Q6P2Q8|Q99752|Q99753	Silent	SNP	ENST00000439741.2	37	c.1870C>T	CCDS53360.1																																																																																				0.597	MTMR11-203	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_181873		60	106	0	0	0	1	0	60	106				
ZNF652	22834	broad.mit.edu	37	17	47395006	47395006	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:47395006G>A	ENST00000362063.2	-	2	400	c.82C>T	c.(82-84)Cgt>Tgt	p.R28C	ZNF652_ENST00000430262.2_Missense_Mutation_p.R28C	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	zinc finger protein 652	28					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)			TGACCACGACGGCTATCTTCT	0.468																																						ENST00000362063.2																			0				cervix(1)|endometrium(3)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|upper_aerodigestive_tract(1)	20						c.(82-84)Cgt>Tgt		zinc finger protein 652							80.0	65.0	70.0					17																	47395006		2203	4300	6503	SO:0001583	missense	22834				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|protein binding|zinc ion binding	g.chr17:47395006G>A	AB023141	CCDS32677.1	17q21.32	2013-01-08				ENSG00000198740		"""Zinc fingers, C2H2-type"""	29147	protein-coding gene	gene with protein product		613907				10231032	Standard	NM_014897		Approved	KIAA0924	uc002iow.3	Q9Y2D9		ENST00000362063.2:c.82C>T	17.37:g.47395006G>A	ENSP00000354686:p.Arg28Cys					ZNF652_ENST00000430262.2_Missense_Mutation_p.R28C	p.R28C	NM_014897.2	NP_055712.1	Q9Y2D9	ZN652_HUMAN	BRCA - Breast invasive adenocarcinoma(1;3.1e-14)|Epithelial(5;2.92e-06)|all cancers(6;3.15e-05)		2	400	-	all_cancers(4;6.81e-14)|Breast(4;4.97e-29)|all_epithelial(4;1.53e-17)		28					A4QPD9|Q5H9Q0	Missense_Mutation	SNP	ENST00000362063.2	37	c.82C>T	CCDS32677.1	.	.	.	.	.	.	.	.	.	.	G	13.26	2.183741	0.38609	.	.	ENSG00000198740	ENST00000362063;ENST00000430262	D;D	0.98926	-5.24;-5.24	5.76	4.8	0.61643	.	0.355141	0.33161	N	0.005208	D	0.94748	0.8305	N	0.12182	0.205	0.41888	D	0.990356	B	0.09022	0.002	B	0.04013	0.001	D	0.91746	0.5408	10	0.52906	T	0.07	-3.6101	9.6012	0.39605	0.159:0.0:0.841:0.0	.	28	Q9Y2D9	ZN652_HUMAN	C	28	ENSP00000354686:R28C;ENSP00000416305:R28C	ENSP00000354686:R28C	R	-	1	0	ZNF652	44750005	0.996000	0.38824	0.967000	0.41034	0.994000	0.84299	4.210000	0.58500	1.436000	0.47453	0.655000	0.94253	CGT		0.468	ZNF652-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000364524.1	NM_014897		14	25	0	0	0	1	0	14	25				
RTEL1	51750	broad.mit.edu	37	20	62297385	62297385	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr20:62297385C>A	ENST00000360203.5	+	7	892	c.567C>A	c.(565-567)agC>agA	p.S189R	RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.S189R|RTEL1_ENST00000508582.2_Missense_Mutation_p.S213R|RTEL1_ENST00000318100.4_Missense_Mutation_p.S189R|RTEL1_ENST00000370018.3_Missense_Mutation_p.S189R					regulator of telomere elongation helicase 1											NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)			AGCTGGCCAGCCCCATCCTGG	0.602																																						ENST00000318100.4																			0				NS(1)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	24						c.(565-567)agC>agA		regulator of telomere elongation helicase 1							78.0	64.0	69.0					20																	62297385		2203	4300	6503	SO:0001583	missense	51750				DNA repair|regulation of double-strand break repair via homologous recombination|telomere maintenance	nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|iron-sulfur cluster binding|metal ion binding	g.chr20:62297385C>A	AB029011	CCDS13530.2, CCDS13531.1, CCDS13530.3, CCDS63331.1, CCDS74751.1	20q13.3	2012-06-27	2004-10-29	2004-10-29	ENSG00000258366	ENSG00000258366			15888	protein-coding gene	gene with protein product		608833	"""chromosome 20 open reading frame 41"""	C20orf41		10655513, 15210109	Standard	NM_016434		Approved	bK3184A7.3, NHL, DKFZP434C013, KIAA1088, RTEL	uc011abd.2	Q9NZ71	OTTHUMG00000032992	ENST00000360203.5:c.567C>A	20.37:g.62297385C>A	ENSP00000353332:p.Ser189Arg					RTEL1-TNFRSF6B_ENST00000482936.1_Missense_Mutation_p.S189R|RTEL1_ENST00000370018.3_Missense_Mutation_p.S189R|RTEL1_ENST00000360203.5_Missense_Mutation_p.S189R|RTEL1_ENST00000508582.2_Missense_Mutation_p.S213R	p.S189R			Q9NZ71	RTEL1_HUMAN	Epithelial(9;1.25e-09)|all cancers(9;5.13e-09)|BRCA - Breast invasive adenocarcinoma(10;7.26e-05)|OV - Ovarian serous cystadenocarcinoma(5;0.00223)|Colorectal(105;0.107)		7	1394	+	all_cancers(38;6.47e-12)|all_epithelial(29;3.75e-13)		189			Helicase ATP-binding.			Missense_Mutation	SNP	ENST00000360203.5	37	c.567C>A		.	.	.	.	.	.	.	.	.	.	C	12.45	1.940841	0.34283	.	.	ENSG00000258366	ENST00000370018;ENST00000318100;ENST00000508582;ENST00000360203;ENST00000356810	T;T;T;T;T	0.71222	-0.55;-0.55;-0.55;-0.55;-0.55	5.15	0.93	0.19454	DEAD2 (1);Helicase-like, DEXD box c2 type (1);Helicase, superfamily 1/2, ATP-binding domain, DinG/Rad3-type (1);	0.289385	0.36628	N	0.002492	T	0.56187	0.1968	L	0.39633	1.23	0.24240	N	0.995364	B;B;B;B	0.28933	0.228;0.012;0.148;0.01	B;B;B;B	0.38156	0.173;0.044;0.266;0.037	T	0.36817	-0.9732	10	0.16896	T	0.51	-25.9805	2.503	0.04638	0.1315:0.5066:0.1283:0.2336	.	213;213;189;189	Q9NZ71-7;D6RBA3;Q9NZ71;Q9NZ71-6	.;.;RTEL1_HUMAN;.	R	189;189;213;189;239	ENSP00000359035:S189R;ENSP00000322287:S189R;ENSP00000424307:S213R;ENSP00000353332:S189R;ENSP00000349265:S239R	ENSP00000349265:S239R	S	+	3	2	AL353715.1	61767829	0.073000	0.21202	0.940000	0.37924	0.972000	0.66771	-0.495000	0.06443	0.268000	0.21939	-0.305000	0.09177	AGC		0.602	RTEL1-011	NOVEL	not_organism_supported|basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000289781.1	NM_032957		12	38	1	0	0.00010058	1	0.000103618	12	38				
RGPD8	727851	broad.mit.edu	37	2	113146071	113146071	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:113146071C>T	ENST00000302558.3	-	20	4642	c.4451G>A	c.(4450-4452)aGa>aAa	p.R1484K	RGPD8_ENST00000409750.1_Missense_Mutation_p.R1344K	NM_001164463.1	NP_001157935.1	O14715	RGPD8_HUMAN	RANBP2-like and GRIP domain containing 8	1484					protein targeting to Golgi (GO:0000042)	nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)			endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						TGGTGACTCTCTGGGAGTGCT	0.408																																						ENST00000302558.3																			0				endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						c.(4450-4452)aGa>aAa		RANBP2-like and GRIP domain containing 8							1.0	1.0	1.0					2																	113146071		447	993	1440	SO:0001583	missense	727851							g.chr2:113146071C>T	AF012086	CCDS46394.1	2q13	2013-01-10	2005-12-20	2005-12-20	ENSG00000169629	ENSG00000169629		"""Tetratricopeptide (TTC) repeat domain containing"""	9849	protein-coding gene	gene with protein product		602752	"""RAN binding protein 2-like 1"""	RANBP2L1		9480752	Standard	NM_001164463		Approved	RanBP2alpha	uc002ths.2	O14715	OTTHUMG00000153289	ENST00000302558.3:c.4451G>A	2.37:g.113146071C>T	ENSP00000306637:p.Arg1484Lys					RGPD8_ENST00000409750.1_Missense_Mutation_p.R1344K	p.R1484K	NM_001164463.1	NP_001157935.1					20	4642	-								Q5CZA8	Missense_Mutation	SNP	ENST00000302558.3	37	c.4451G>A	CCDS46394.1	.	.	.	.	.	.	.	.	.	.	-	5.194	0.221286	0.09863	.	.	ENSG00000169629	ENST00000302558;ENST00000409750	T;T	0.38077	1.16;1.16	2.3	2.3	0.28687	.	.	.	.	.	T	0.30854	0.0778	M	0.66939	2.045	0.20074	N	0.999939	B	0.24721	0.11	B	0.23150	0.044	T	0.38628	-0.9652	9	0.05620	T	0.96	-34.5019	10.3508	0.43934	0.0:1.0:0.0:0.0	.	1484	O14715	RGPD8_HUMAN	K	1484;1344	ENSP00000306637:R1484K;ENSP00000386511:R1344K	ENSP00000306637:R1484K	R	-	2	0	RGPD8	112862542	0.997000	0.39634	0.997000	0.53966	0.542000	0.35054	0.914000	0.28624	1.299000	0.44798	0.152000	0.16155	AGA		0.408	RGPD8-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375951.1	XM_001722279		84	183	0	0	0	1	0	84	183				
CWC25	54883	broad.mit.edu	37	17	36977261	36977261	+	Silent	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:36977261C>T	ENST00000225428.5	-	2	381	c.84G>A	c.(82-84)caG>caA	p.Q28Q	CWC25_ENST00000536127.1_5'UTR	NM_017748.3	NP_060218.1	Q9NXE8	CWC25_HUMAN	CWC25 spliceosome-associated protein homolog (S. cerevisiae)	28										central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	14						CCTCATGCTTCTGCTCGGCCT	0.537																																						ENST00000225428.4																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	14						c.(82-84)caG>caA		CWC25 spliceosome-associated protein homolog (S. cerevisiae)							94.0	91.0	92.0					17																	36977261		2023	4193	6216	SO:0001819	synonymous_variant	54883							g.chr17:36977261C>T	AK000298	CCDS45663.1	17q12	2010-01-26	2010-01-26	2010-01-26		ENSG00000273559			25989	protein-coding gene	gene with protein product			"""coiled-coil domain containing 49"""	CCDC49		19941820	Standard	NM_017748		Approved	FLJ20291	uc002hqu.4	Q9NXE8		ENST00000225428.5:c.84G>A	17.37:g.36977261C>T						CWC25_ENST00000536127.1_5'UTR	p.Q28Q	NM_017748.3	NP_060218.1	Q9NXE8	CWC25_HUMAN			2	381	-			28					A0JLM3|Q68DK5	Silent	SNP	ENST00000225428.5	37	c.84G>A	CCDS45663.1																																																																																				0.537	CWC25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442186.6	NM_017748		46	88	0	0	0	1	0	46	88				
TRAPPC11	60684	broad.mit.edu	37	4	184595926	184595926	+	Silent	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr4:184595926G>A	ENST00000334690.6	+	6	823	c.621G>A	c.(619-621)gtG>gtA	p.V207V	TRAPPC11_ENST00000357207.4_Silent_p.V207V|TRAPPC11_ENST00000511409.1_3'UTR|RNU6-335P_ENST00000364563.1_RNA	NM_021942.5	NP_068761.4	Q7Z392	TPC11_HUMAN	trafficking protein particle complex 11	207					vesicle-mediated transport (GO:0016192)	Golgi apparatus (GO:0005794)											TCAGAAGAGTGAAATCTCATA	0.308																																						ENST00000334690.6																			0											c.(619-621)gtG>gtA		trafficking protein particle complex 11							58.0	66.0	63.0					4																	184595926		2202	4293	6495	SO:0001819	synonymous_variant	60684							g.chr4:184595926G>A		CCDS34112.1, CCDS47166.1	4q35.1	2011-12-12	2011-12-12	2011-12-12	ENSG00000168538	ENSG00000168538		"""Trafficking protein particle complex"""	25751	protein-coding gene	gene with protein product	"""gryzun homolog (Drosophila)"", ""foie gras homolog (zebrafish)"""	614138	"""chromosome 4 open reading frame 41"""	C4orf41		19942856, 21525244	Standard	NM_021942		Approved	FLJ12716, gry, foigr	uc003ivx.3	Q7Z392	OTTHUMG00000160673	ENST00000334690.6:c.621G>A	4.37:g.184595926G>A						TRAPPC11_ENST00000511409.1_3'UTR|TRAPPC11_ENST00000357207.4_Silent_p.V207V	p.V207V	NM_021942.5	NP_068761.4	Q7Z392	CD041_HUMAN			6	823	+			207					A4QPB8|B2RCD6|Q5U5I7|Q6FI73|Q86T25|Q9H0L1|Q9H5K9|Q9H8Q1|Q9H9I7	Silent	SNP	ENST00000334690.6	37	c.621G>A	CCDS34112.1																																																																																				0.308	TRAPPC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361654.2	NM_021942		19	38	0	0	0	1	0	19	38				
CNOT4	4850	broad.mit.edu	37	7	135048772	135048772	+	Silent	SNP	G	G	A	rs370767888		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:135048772G>A	ENST00000451834.1	-	11	1948	c.1665C>T	c.(1663-1665)gaC>gaT	p.D555D	CNOT4_ENST00000541284.1_Silent_p.D558D|CNOT4_ENST00000473470.1_5'UTR|CNOT4_ENST00000361528.4_Intron|CNOT4_ENST00000423368.2_Intron			O95628	CNOT4_HUMAN	CCR4-NOT transcription complex, subunit 4	0					gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|protein autoubiquitination (GO:0051865)|RNA metabolic process (GO:0016070)	cytosol (GO:0005829)|nucleus (GO:0005634)	ligase activity (GO:0016874)|nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						CCCTTAGCCCGTCCTGCCATT	0.423																																					Ovarian(51;766 1130 5502 35047 50875)	ENST00000541284.1																			0				autonomic_ganglia(1)|endometrium(3)|kidney(1)|large_intestine(5)|lung(10)|prostate(1)|skin(1)	22						c.(1672-1674)gaC>gaT		CCR4-NOT transcription complex, subunit 4		G	,,,	0,1752		0,0,876	240.0	213.0	221.0		,1665,1674,	5.8	1.0	7		221	2,3980		0,2,1989	no	intron,coding-synonymous,coding-synonymous,intron	CNOT4	NM_001190847.1,NM_001190849.1,NM_001190850.1,NM_013316.3	,,,	0,2,2865	AA,AG,GG		0.0502,0.0,0.0349	,,,	,555/711,558/714,	135048772	2,5732	876	1991	2867	SO:0001819	synonymous_variant	4850				nuclear-transcribed mRNA poly(A) tail shortening|protein autoubiquitination|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|nucleus	nucleotide binding|protein binding|RNA binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr7:135048772G>A	AF180475	CCDS43650.1, CCDS47719.1, CCDS55164.1, CCDS55165.1, CCDS55166.1, CCDS55167.1	7q33	2013-09-19			ENSG00000080802	ENSG00000080802		"""RNA binding motif (RRM) containing"""	7880	protein-coding gene	gene with protein product		604911		NOT4		10637334	Standard	NM_013316		Approved	CLONE243, NOT4H	uc011kpy.2	O95628	OTTHUMG00000155568	ENST00000451834.1:c.1665C>T	7.37:g.135048772G>A						CNOT4_ENST00000451834.1_Silent_p.D555D|CNOT4_ENST00000361528.4_Intron|CNOT4_ENST00000473470.1_5'UTR|CNOT4_ENST00000423368.2_Intron	p.D558D	NM_001190849.1|NM_001190850.1	NP_001177778.1|NP_001177779.1	O95628	CNOT4_HUMAN			11	2004	-			238					B7Z6I4|E7ET38|F8VQP3|O95339|O95627|Q8IYM7|Q8NCL0|Q9NPQ1|Q9NZN6	Silent	SNP	ENST00000451834.1	37	c.1674C>T	CCDS55167.1																																																																																				0.423	CNOT4-003	NOVEL	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000340670.1	NM_013316		55	63	0	0	0	1	0	55	63				
OTOF	9381	broad.mit.edu	37	2	26750726	26750726	+	Silent	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:26750726G>A	ENST00000272371.2	-	3	327	c.201C>T	c.(199-201)ttC>ttT	p.F67F	OTOF_ENST00000403946.3_Silent_p.F67F	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN	otoferlin	67					membrane fusion (GO:0061025)|sensory perception of sound (GO:0007605)|synaptic vesicle exocytosis (GO:0016079)	cell junction (GO:0030054)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synaptic vesicle membrane (GO:0030672)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TGCTGTAGTTGAAAACCTGAA	0.577																																					GBM(102;732 1451 20652 24062 31372)	ENST00000272371.2																			0				NS(1)|autonomic_ganglia(1)|breast(9)|central_nervous_system(4)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(14)|lung(35)|ovary(8)|pancreas(1)|prostate(5)|skin(5)|stomach(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	106						c.(199-201)ttC>ttT		otoferlin							111.0	109.0	110.0					2																	26750726		2203	4300	6503	SO:0001819	synonymous_variant	9381				cellular membrane fusion|sensory perception of sound|synaptic vesicle exocytosis	basolateral plasma membrane|cell junction|cytosol|endoplasmic reticulum membrane|integral to membrane|membrane fraction|synaptic vesicle membrane	calcium ion binding	g.chr2:26750726G>A	AF107403	CCDS1724.1, CCDS1725.1, CCDS1726.1, CCDS46241.1, CCDS74497.1	2p23.1	2014-06-27			ENSG00000115155	ENSG00000115155			8515	protein-coding gene	gene with protein product	"""fer-1-like family member 2"""	603681		DFNB9		10192385, 18381613	Standard	NM_194248		Approved	FER1L2, DFNB6	uc002rhk.3	Q9HC10	OTTHUMG00000096977	ENST00000272371.2:c.201C>T	2.37:g.26750726G>A						OTOF_ENST00000403946.3_Silent_p.F67F	p.F67F	NM_194248.2	NP_919224.1	Q9HC10	OTOF_HUMAN			3	327	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		67					B4DJX0|B5MCC1|B9A0H6|Q53R90|Q9HC08|Q9HC09|Q9Y650	Silent	SNP	ENST00000272371.2	37	c.201C>T	CCDS1725.1																																																																																				0.577	OTOF-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000214047.3			33	79	0	0	0	1	0	33	79				
CABP4	57010	broad.mit.edu	37	11	67225048	67225048	+	Silent	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:67225048C>T	ENST00000325656.5	+	4	623	c.546C>T	c.(544-546)ggC>ggT	p.G182G	CABP4_ENST00000438189.2_Silent_p.G77G|CTC-1337H24.1_ENST00000602912.1_lincRNA	NM_145200.3	NP_660201.1	P57796	CABP4_HUMAN	calcium binding protein 4	182	EF-hand 2. {ECO:0000255|PROSITE- ProRule:PRU00448}.				photoreceptor cell morphogenesis (GO:0008594)|phototransduction (GO:0007602)|retinal bipolar neuron differentiation (GO:0060040)|retinal cone cell development (GO:0046549)|signal transduction (GO:0007165)|visual perception (GO:0007601)	cytosol (GO:0005829)|extracellular region (GO:0005576)|synapse (GO:0045202)|terminal bouton (GO:0043195)	calcium ion binding (GO:0005509)			central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11			BRCA - Breast invasive adenocarcinoma(15;8.18e-06)			CTGCAGTGGGCGGCCGTGTGG	0.622																																						ENST00000438189.2																			0				central_nervous_system(2)|large_intestine(3)|lung(2)|ovary(1)|prostate(1)|skin(2)	11						c.(229-231)ggC>ggT		calcium binding protein 4							52.0	45.0	48.0					11																	67225048		2198	4289	6487	SO:0001819	synonymous_variant	57010				visual perception	cytoplasm|extracellular region|terminal button	calcium ion binding	g.chr11:67225048C>T	AC005849	CCDS8166.1, CCDS73333.1	11q13.2	2013-09-20			ENSG00000175544	ENSG00000175544		"""EF-hand domain containing"""	1386	protein-coding gene	gene with protein product		608965				10625670, 16960802	Standard	NM_145200		Approved	CSNB2B	uc001olo.3	P57796	OTTHUMG00000168033	ENST00000325656.5:c.546C>T	11.37:g.67225048C>T						CABP4_ENST00000325656.5_Silent_p.G182G	p.G77G			P57796	CABP4_HUMAN	BRCA - Breast invasive adenocarcinoma(15;8.18e-06)		5	575	+			182					Q8N4Z2|Q8WWY5	Silent	SNP	ENST00000325656.5	37	c.231C>T	CCDS8166.1																																																																																				0.622	CABP4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000397624.2			4	9	0	0	0	1	0	4	9				
SLC43A2	124935	broad.mit.edu	37	17	1519990	1519990	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:1519990C>T	ENST00000301335.5	-	3	322	c.234G>A	c.(232-234)tgG>tgA	p.W78*	snoU13_ENST00000459614.1_RNA|SLC43A2_ENST00000571650.1_Nonsense_Mutation_p.W78*|SLC43A2_ENST00000382147.4_Nonsense_Mutation_p.W78*	NM_001284498.1|NM_001284499.1	NP_001271427.1|NP_001271428.1	Q8N370	LAT4_HUMAN	solute carrier family 43 (amino acid system L transporter), member 2	78					amino acid transport (GO:0006865)|ion transport (GO:0006811)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-amino acid transmembrane transporter activity (GO:0015179)			endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	12				UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)		GGCAGCTGAGCCAGCCGTTCA	0.592																																						ENST00000571650.1																			0				endometrium(4)|large_intestine(4)|liver(1)|lung(2)|upper_aerodigestive_tract(1)	12						c.(232-234)tgG>tgA		solute carrier family 43 (amino acid system L transporter), member 2							87.0	68.0	74.0					17																	1519990		2203	4300	6503	SO:0001587	stop_gained	124935				cellular nitrogen compound metabolic process|ion transport	integral to membrane|plasma membrane		g.chr17:1519990C>T	BC027923	CCDS11006.1, CCDS67107.1, CCDS67108.1	17p13.3	2013-07-17	2013-07-17		ENSG00000167703	ENSG00000167703		"""Solute carriers"""	23087	protein-coding gene	gene with protein product		610791				23268354	Standard	NM_001284498		Approved	MGC34680	uc002fsv.3	Q8N370	OTTHUMG00000090345	ENST00000301335.5:c.234G>A	17.37:g.1519990C>T	ENSP00000301335:p.Trp78*					SLC43A2_ENST00000301335.4_Nonsense_Mutation_p.W78*|SLC43A2_ENST00000382147.4_Nonsense_Mutation_p.W78*	p.W78*			Q8N370	LAT4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.0883)	3	540	-			78					B7Z6X9|C9JNU8|D3DTH9|Q5CD75|Q6IPM1|Q8NBX1|Q8NC21|Q8WZ00	Nonsense_Mutation	SNP	ENST00000301335.5	37	c.234G>A	CCDS11006.1	.	.	.	.	.	.	.	.	.	.	C	36	5.792493	0.96945	.	.	ENSG00000167703	ENST00000301335;ENST00000382147	.	.	.	4.46	4.46	0.54185	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.35671	T	0.21	-18.1599	18.4373	0.90650	0.0:1.0:0.0:0.0	.	.	.	.	X	78	.	ENSP00000301335:W78X	W	-	3	0	SLC43A2	1466740	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	5.438000	0.66550	2.773000	0.95371	0.655000	0.94253	TGG		0.592	SLC43A2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000206717.4	NM_152346		15	58	0	0	0	1	0	15	58				
CYC1	1537	broad.mit.edu	37	8	145151100	145151100	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr8:145151100C>A	ENST00000318911.4	+	3	473	c.400C>A	c.(400-402)Cac>Aac	p.H134N		NM_001916.3	NP_001907	P08574	CY1_HUMAN	cytochrome c-1	134	Cytochrome c.				cellular metabolic process (GO:0044237)|respiratory electron transport chain (GO:0022904)|response to glucagon (GO:0033762)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|respiratory chain (GO:0070469)	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity (GO:0045155)|heme binding (GO:0020037)|iron ion binding (GO:0005506)			endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	15	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)			GGCCTACCGCCACCTGGTGGG	0.627											OREG0019052	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000318911.4																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(8)|ovary(1)|prostate(2)	15						c.(400-402)Cac>Aac		cytochrome c-1							144.0	158.0	153.0					8																	145151100		2203	4300	6503	SO:0001583	missense	1537				respiratory electron transport chain|transport	cell junction|integral to membrane|mitochondrial inner membrane|respiratory chain	electron transporter, transferring electrons from CoQH2-cytochrome c reductase complex and cytochrome c oxidase complex activity|heme binding	g.chr8:145151100C>A	BC001006	CCDS6415.1	8q24	2011-07-04			ENSG00000179091	ENSG00000179091		"""Mitochondrial respiratory chain complex / Complex III"""	2579	protein-coding gene	gene with protein product		123980					Standard	NM_001916		Approved	UQCR4	uc003zaz.4	P08574	OTTHUMG00000165242	ENST00000318911.4:c.400C>A	8.37:g.145151100C>A	ENSP00000317159:p.His134Asn		OREG0019052	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1692		p.H134N	NM_001916.3	NP_001907.2	P08574	CY1_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;3.38e-41)|Epithelial(56;8.71e-40)|all cancers(56;3e-35)|Colorectal(110;0.055)|BRCA - Breast invasive adenocarcinoma(115;0.105)		3	473	+	all_cancers(97;2.87e-11)|all_epithelial(106;2.16e-09)|Lung NSC(106;5.89e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		134			Cytochrome c.		Q5U062|Q6FHS7	Missense_Mutation	SNP	ENST00000318911.4	37	c.400C>A	CCDS6415.1	.	.	.	.	.	.	.	.	.	.	C	0.284	-0.984494	0.02180	.	.	ENSG00000179091	ENST00000318911	T	0.39056	1.1	4.34	2.35	0.29111	Cytochrome c domain (2);	0.064459	0.64402	D	0.000010	T	0.12603	0.0306	N	0.01284	-0.91	0.40643	D	0.981964	B	0.09022	0.002	B	0.17098	0.017	T	0.28427	-1.0044	10	0.02654	T	1	-21.2166	9.1307	0.36843	0.3918:0.6082:0.0:0.0	.	134	P08574	CY1_HUMAN	N	134	ENSP00000317159:H134N	ENSP00000317159:H134N	H	+	1	0	CYC1	145223088	1.000000	0.71417	0.999000	0.59377	0.180000	0.23129	4.447000	0.60020	1.002000	0.39104	0.561000	0.74099	CAC		0.627	CYC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382895.1	NM_001916		66	197	1	0	3.94839e-29	1	4.88773e-29	66	197				
LRP1B	53353	broad.mit.edu	37	2	141116402	141116402	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:141116402C>A	ENST00000389484.3	-	73	12216	c.11245G>T	c.(11245-11247)Gat>Tat	p.D3749Y		NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN	low density lipoprotein receptor-related protein 1B	3749	LDL-receptor class A 31. {ECO:0000255|PROSITE-ProRule:PRU00124}.				protein transport (GO:0015031)|receptor-mediated endocytosis (GO:0006898)	integral component of membrane (GO:0016021)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|low-density lipoprotein receptor activity (GO:0005041)			NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)		CCACAGTGATCTTCATCTGAA	0.383										TSP Lung(27;0.18)																											Colon(99;50 2074 2507 20106)	ENST00000389484.3																			0				NS(5)|autonomic_ganglia(1)|biliary_tract(1)|breast(3)|central_nervous_system(7)|endometrium(25)|haematopoietic_and_lymphoid_tissue(10)|kidney(27)|large_intestine(98)|liver(4)|lung(337)|ovary(15)|pancreas(6)|prostate(11)|skin(30)|stomach(2)|upper_aerodigestive_tract(19)|urinary_tract(5)	606						c.(11245-11247)Gat>Tat		low density lipoprotein receptor-related protein 1B							204.0	184.0	191.0					2																	141116402		2203	4299	6502	SO:0001583	missense	53353				protein transport|receptor-mediated endocytosis	integral to membrane	calcium ion binding	g.chr2:141116402C>A	AF176832	CCDS2182.1	2q21.2	2013-05-29	2010-01-26		ENSG00000168702	ENSG00000168702		"""Low density lipoprotein receptors"""	6693	protein-coding gene	gene with protein product	"""LRP-deleted in tumors"""	608766				10766186	Standard	NM_018557		Approved	LRP-DIT, LRPDIT	uc002tvj.1	Q9NZR2	OTTHUMG00000131799	ENST00000389484.3:c.11245G>T	2.37:g.141116402C>A	ENSP00000374135:p.Asp3749Tyr	TSP Lung(27;0.18)					p.D3749Y	NM_018557.2	NP_061027.2	Q9NZR2	LRP1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (2;0.00139)|Epithelial(1;1.25e-24)|all cancers(1;8.86e-24)|OV - Ovarian serous cystadenocarcinoma(1;2.45e-12)|LUSC - Lung squamous cell carcinoma(1;2.97e-10)|Lung(1;6.05e-09)|BRCA - Breast invasive adenocarcinoma(221;0.0103)	73	12216	-		all_cancers(3;1.1e-60)|all_epithelial(3;1.94e-59)|all_lung(3;1.09e-24)|Lung NSC(3;5.65e-24)|Esophageal squamous(3;5.41e-13)|Renal(3;0.000147)|Breast(3;0.000527)|Hepatocellular(3;0.011)|all_neural(3;0.014)|Colorectal(150;0.101)	3749			LDL-receptor class A 31.		Q8WY29|Q8WY30|Q8WY31	Missense_Mutation	SNP	ENST00000389484.3	37	c.11245G>T	CCDS2182.1	.	.	.	.	.	.	.	.	.	.	C	13.98	2.399619	0.42512	.	.	ENSG00000168702	ENST00000389484;ENST00000544579	T	0.58797	0.31	5.55	3.76	0.43208	Low-density lipoprotein (LDL) receptor class A, conserved site (1);	0.132703	0.48767	U	0.000166	T	0.56352	0.1979	M	0.67517	2.055	0.39628	D	0.970131	B	0.31790	0.34	B	0.33890	0.172	T	0.59300	-0.7480	10	0.62326	D	0.03	.	11.908	0.52723	0.0:0.8568:0.0:0.1432	.	3749	Q9NZR2	LRP1B_HUMAN	Y	3749;3687	ENSP00000374135:D3749Y	ENSP00000374135:D3749Y	D	-	1	0	LRP1B	140832872	1.000000	0.71417	0.997000	0.53966	0.200000	0.23975	4.157000	0.58144	0.716000	0.32124	-0.150000	0.13652	GAT		0.383	LRP1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254736.2	NM_018557		39	90	1	0	6.5261e-18	1	7.78064e-18	39	90				
CDKN2D	1032	broad.mit.edu	37	19	10675657	10675657	+	IGR	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:10675657C>T	ENST00000393599.2	-	0	1422				KRI1_ENST00000361821.5_Silent_p.K76K|KRI1_ENST00000312962.6_Silent_p.K80K|KRI1_ENST00000537964.1_5'UTR	NM_001800.3|NM_079421.2	NP_001791.1|NP_524145.1	P55273	CDN2D_HUMAN	cyclin-dependent kinase inhibitor 2D (p19, inhibits CDK4)						autophagic cell death (GO:0048102)|cell cycle arrest (GO:0007050)|DNA synthesis involved in DNA repair (GO:0000731)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of intrinsic apoptotic signaling pathway in response to DNA damage (GO:1902230)|negative regulation of phosphorylation (GO:0042326)|negative regulation of protein serine/threonine kinase activity (GO:0071901)|regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0000079)|response to retinoic acid (GO:0032526)|response to UV (GO:0009411)|response to vitamin D (GO:0033280)|sensory perception of sound (GO:0007605)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleus (GO:0005634)	cyclin-dependent protein serine/threonine kinase inhibitor activity (GO:0004861)|protein kinase binding (GO:0019901)			endometrium(3)|lung(2)|ovary(1)	6			Epithelial(33;1.58e-05)|all cancers(31;6.36e-05)			GGTCCTTCTTCTTCAACAAGG	0.488											OREG0025239	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000312962.6																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(11)|ovary(1)|prostate(1)|skin(1)|stomach(1)|urinary_tract(1)	26						c.(238-240)aaG>aaA		KRI1 homolog (S. cerevisiae)							107.0	113.0	111.0					19																	10675657		2203	4300	6503	SO:0001628	intergenic_variant	65095							g.chr19:10675657C>T		CCDS12244.1	19p13	2013-01-10				ENSG00000129355		"""Ankyrin repeat domain containing"""	1790	protein-coding gene	gene with protein product		600927				8575754	Standard	NM_079421		Approved	INK4D, p19	uc002mpa.3	P55273			19.37:g.10675657C>T			OREG0025239	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	666	KRI1_ENST00000537964.1_5'UTR|KRI1_ENST00000361821.5_Silent_p.K76K	p.K80K	NM_023008.3	NP_075384.3	Q8N9T8	KRI1_HUMAN	Epithelial(33;9.2e-06)|all cancers(31;3.9e-05)		3	259	-			80					Q13102|Q6FGE9	Silent	SNP	ENST00000393599.2	37	c.240G>A	CCDS12244.1																																																																																				0.488	CDKN2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452030.1	NM_079421		44	112	0	0	0	1	0	44	112				
INPP5B	3633	broad.mit.edu	37	1	38353958	38353958	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:38353958A>C	ENST00000373026.1	-	9	1096	c.1096T>G	c.(1096-1098)Tgg>Ggg	p.W366G	INPP5B_ENST00000458109.2_Missense_Mutation_p.W49G|INPP5B_ENST00000373024.3_Missense_Mutation_p.W286G|INPP5B_ENST00000373023.2_Missense_Mutation_p.W366G|INPP5B_ENST00000467066.1_5'UTR|INPP5B_ENST00000373027.1_Missense_Mutation_p.W122G			P32019	I5P2_HUMAN	inositol polyphosphate-5-phosphatase, 75kDa	366	5-phosphatase. {ECO:0000250}.				in utero embryonic development (GO:0001701)|inositol phosphate metabolic process (GO:0043647)|phosphatidylinositol dephosphorylation (GO:0046856)|regulation of protein processing (GO:0070613)|regulation of small GTPase mediated signal transduction (GO:0051056)|small GTPase mediated signal transduction (GO:0007264)|small molecule metabolic process (GO:0044281)|sperm motility (GO:0030317)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|endosome (GO:0005768)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|microtubule cytoskeleton (GO:0015630)|plasma membrane (GO:0005886)	inositol-1,4,5-trisphosphate 5-phosphatase activity (GO:0052658)|metal ion binding (GO:0046872)|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity (GO:0004439)			breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)				TTGCTCAGCCACAGCCGGAGG	0.483																																						ENST00000373023.2																			0				breast(1)|endometrium(2)|large_intestine(1)|liver(1)|lung(9)|urinary_tract(1)	15						c.(1096-1098)Tgg>Ggg		inositol polyphosphate-5-phosphatase, 75kDa							103.0	107.0	106.0					1																	38353958		1898	4117	6015	SO:0001583	missense	3633				regulation of small GTPase mediated signal transduction|small GTPase mediated signal transduction	cytosol|integral to membrane|microtubule cytoskeleton	GTPase activator activity|inositol-polyphosphate 5-phosphatase activity|phosphatidylinositol-4,5-bisphosphate 5-phosphatase activity|protein binding	g.chr1:38353958A>C	M74161	CCDS41306.1, CCDS72760.1	1p34	2008-02-05	2002-08-29		ENSG00000204084	ENSG00000204084	3.1.3.56		6077	protein-coding gene	gene with protein product		147264	"""inositol polyphosphate-5-phosphatase, 75kD"""			1718960	Standard	NM_005540		Approved		uc001ccg.1	P32019	OTTHUMG00000004436	ENST00000373026.1:c.1096T>G	1.37:g.38353958A>C	ENSP00000362117:p.Trp366Gly					INPP5B_ENST00000458109.2_Missense_Mutation_p.W49G|INPP5B_ENST00000467066.1_5'UTR|INPP5B_ENST00000373027.1_Missense_Mutation_p.W122G|INPP5B_ENST00000373026.1_Missense_Mutation_p.W366G|INPP5B_ENST00000373024.3_Missense_Mutation_p.W286G	p.W366G	NM_005540.2	NP_005531.2	P32019	I5P2_HUMAN			10	1189	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)	366					C9J6U5|Q5VSG9|Q5VSH0|Q5VSH1|Q658Q5|Q6P6D4|Q6PD53|Q86YE1	Missense_Mutation	SNP	ENST00000373026.1	37	c.1096T>G		.	.	.	.	.	.	.	.	.	.	A	17.02	3.282892	0.59867	.	.	ENSG00000204084	ENST00000373027;ENST00000373023;ENST00000373029;ENST00000373026;ENST00000373024;ENST00000458109	T;T;T;T;D	0.94828	-1.35;-1.35;-1.35;-1.35;-3.53	5.85	5.85	0.93711	Endonuclease/exonuclease/phosphatase (2);Inositol polyphosphate-related phosphatase (1);	0.000000	0.85682	D	0.000000	D	0.98365	0.9457	H	0.97758	4.07	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.99737	1.1014	10	0.87932	D	0	.	16.2375	0.82384	1.0:0.0:0.0:0.0	.	366;286	P32019;P32019-2	I5P2_HUMAN;.	G	122;366;366;366;286;49	ENSP00000362118:W122G;ENSP00000362114:W366G;ENSP00000362117:W366G;ENSP00000362115:W286G;ENSP00000397748:W49G	ENSP00000362114:W366G	W	-	1	0	INPP5B	38126545	1.000000	0.71417	0.998000	0.56505	0.192000	0.23643	8.946000	0.92992	2.222000	0.72286	0.533000	0.62120	TGG		0.483	INPP5B-003	KNOWN	non_canonical_conserved|basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000012968.1	NM_005540		9	106	0	0	0	1	0	9	106				
MAST2	23139	broad.mit.edu	37	1	46500302	46500302	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:46500302G>T	ENST00000361297.2	+	29	4244	c.3961G>T	c.(3961-3963)Ggt>Tgt	p.G1321C	MAST2_ENST00000372009.2_Intron	NM_015112.2	NP_055927.2			microtubule associated serine/threonine kinase 2											breast(1)|lung(3)|ovary(5)|stomach(2)	11	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)					CTCCCTCCACGGTCTGGCACC	0.657																																						ENST00000361297.2																			0				breast(1)|lung(3)|ovary(5)|stomach(2)	11						c.(3961-3963)Ggt>Tgt		microtubule associated serine/threonine kinase 2							71.0	80.0	77.0					1																	46500302		2174	4263	6437	SO:0001583	missense	23139				regulation of interleukin-12 biosynthetic process|spermatid differentiation	cytoplasm|cytoskeleton|plasma membrane	ATP binding|magnesium ion binding|phosphatase binding|protein serine/threonine kinase activity	g.chr1:46500302G>T	AB047005	CCDS41326.1	1p34.1	2008-02-05			ENSG00000086015	ENSG00000086015			19035	protein-coding gene	gene with protein product		612257					Standard	NM_015112		Approved	MAST205, KIAA0807	uc001cov.3	Q6P0Q8	OTTHUMG00000008007	ENST00000361297.2:c.3961G>T	1.37:g.46500302G>T	ENSP00000354671:p.Gly1321Cys					MAST2_ENST00000372009.2_Intron|MAST2_ENST00000372008.1_Intron	p.G1321C	NM_015112.2	NP_055927.2	Q6P0Q8	MAST2_HUMAN			29	4244	+	Acute lymphoblastic leukemia(166;0.155)|Lung SC(450;0.184)		1321						Missense_Mutation	SNP	ENST00000361297.2	37	c.3961G>T	CCDS41326.1	.	.	.	.	.	.	.	.	.	.	g	21.8	4.202699	0.79127	.	.	ENSG00000086015	ENST00000361297	T	0.41758	0.99	4.22	4.22	0.49857	.	0.181313	0.48286	D	0.000187	T	0.66056	0.2751	M	0.79123	2.44	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.71842	-0.4470	10	0.66056	D	0.02	-1.1315	17.1505	0.86776	0.0:0.0:1.0:0.0	.	1321	Q6P0Q8	MAST2_HUMAN	C	1321	ENSP00000354671:G1321C	ENSP00000354671:G1321C	G	+	1	0	MAST2	46272889	1.000000	0.71417	0.675000	0.29917	0.951000	0.60555	9.534000	0.98061	2.339000	0.79563	0.558000	0.71614	GGT		0.657	MAST2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000021977.1	NM_015112		40	95	1	0	8.16277e-20	1	9.86603e-20	40	95				
PVALB	5816	broad.mit.edu	37	22	37211254	37211254	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr22:37211254C>G	ENST00000216200.5	-	3	142	c.87G>C	c.(85-87)aaG>aaC	p.K29N	PVALB_ENST00000417718.2_Missense_Mutation_p.K29N|CITF22-24E5.1_ENST00000417792.1_RNA|PVALB_ENST00000404171.1_5'UTR	NM_002854.2	NP_002845.1	P20472	PRVA_HUMAN	parvalbumin	29					cytosolic calcium ion homeostasis (GO:0051480)	axon (GO:0030424)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)			large_intestine(1)|lung(1)|skin(1)	3						TTTGGAAGAACTTTTTGTGGT	0.517																																						ENST00000216200.5																			0				large_intestine(1)|lung(1)|skin(1)	3						c.(85-87)aaG>aaC		parvalbumin							117.0	98.0	105.0					22																	37211254		2203	4300	6503	SO:0001583	missense	5816						calcium ion binding	g.chr22:37211254C>G		CCDS13933.1	22q13.1	2013-01-10			ENSG00000100362	ENSG00000100362		"""EF-hand domain containing"""	9704	protein-coding gene	gene with protein product		168890				1559707, 10591208	Standard	NM_002854		Approved	D22S749	uc003apx.3	P20472	OTTHUMG00000150547	ENST00000216200.5:c.87G>C	22.37:g.37211254C>G	ENSP00000216200:p.Lys29Asn					PVALB_ENST00000404171.1_5'UTR|PVALB_ENST00000417718.2_Missense_Mutation_p.K29N	p.K29N	NM_002854.2	NP_002845.1	P20472	PRVA_HUMAN			3	142	-			29					B2R4H7|P78378|Q4VB78|Q5R3Q9	Missense_Mutation	SNP	ENST00000216200.5	37	c.87G>C	CCDS13933.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.56|17.56	3.419480|3.419480	0.62622|0.62622	.|.	.|.	ENSG00000100362|ENSG00000100362	ENST00000417718;ENST00000216200;ENST00000443735|ENST00000406910	T;T;T|.	0.77750|.	-1.12;-1.12;-0.85|.	5.21|5.21	1.5|1.5	0.22942|0.22942	.|.	0.102286|.	0.64402|.	D|.	0.000003|.	T|T	0.72771|0.72771	0.3502|0.3502	M|M	0.89353|0.89353	3.025|3.025	0.80722|0.80722	D|D	1|1	D|.	0.55172|.	0.97|.	P|.	0.55345|.	0.774|.	T|T	0.68977|0.68977	-0.5267|-0.5267	10|5	0.52906|.	T|.	0.07|.	-19.1318|-19.1318	5.1718|5.1718	0.15114|0.15114	0.0:0.5871:0.1436:0.2693|0.0:0.5871:0.1436:0.2693	.|.	29|.	P20472|.	PRVA_HUMAN|.	N|T	29|28	ENSP00000400247:K29N;ENSP00000216200:K29N;ENSP00000406977:K29N|.	ENSP00000216200:K29N|.	K|S	-|-	3|2	2|0	PVALB|PVALB	35541200|35541200	0.998000|0.998000	0.40836|0.40836	0.998000|0.998000	0.56505|0.56505	0.990000|0.990000	0.78478|0.78478	0.829000|0.829000	0.27449|0.27449	0.076000|0.076000	0.16826|0.16826	0.561000|0.561000	0.74099|0.74099	AAG|AGT		0.517	PVALB-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318857.1	NM_002854		13	59	0	0	0	1	0	13	59				
MEGF9	1955	broad.mit.edu	37	9	123370118	123370118	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr9:123370118C>T	ENST00000373930.3	-	5	1369	c.1258G>A	c.(1258-1260)Ggt>Agt	p.G420S	MEGF9_ENST00000426959.1_Missense_Mutation_p.G457S	NM_001080497.2	NP_001073966.2	Q9H1U4	MEGF9_HUMAN	multiple EGF-like-domains 9	420	Laminin EGF-like 5. {ECO:0000255|PROSITE- ProRule:PRU00460}.					integral component of membrane (GO:0016021)				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	16						ATGCACTCACCACTCTCGGGC	0.453																																						ENST00000373930.3																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|lung(9)|upper_aerodigestive_tract(1)	16						c.(1258-1260)Ggt>Agt		multiple EGF-like-domains 9							190.0	182.0	185.0					9																	123370118		1937	4138	6075	SO:0001583	missense	1955					integral to membrane	calcium ion binding	g.chr9:123370118C>T	AB011542	CCDS48010.1, CCDS48010.2	9q32-q33.3	2008-07-21	2006-03-31	2006-03-31	ENSG00000106780	ENSG00000106780			3234	protein-coding gene	gene with protein product		604268	"""EGF-like-domain, multiple 5"""	EGFL5		9693030	Standard	NM_001080497		Approved		uc022bms.1	Q9H1U4	OTTHUMG00000021039	ENST00000373930.3:c.1258G>A	9.37:g.123370118C>T	ENSP00000363040:p.Gly420Ser					MEGF9_ENST00000426959.1_Missense_Mutation_p.G457S	p.G420S	NM_001080497.2	NP_001073966.2	Q9H1U4	MEGF9_HUMAN			5	1369	-			420			Laminin EGF-like 5.		B7Z315|O75098	Missense_Mutation	SNP	ENST00000373930.3	37	c.1258G>A	CCDS48010.2	.	.	.	.	.	.	.	.	.	.	C	33	5.232283	0.95207	.	.	ENSG00000106780	ENST00000373930;ENST00000426959	T;T	0.70631	-0.5;-0.5	5.36	5.36	0.76844	.	0.000000	0.85682	D	0.000000	D	0.86020	0.5833	M	0.86028	2.79	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	D	0.87886	0.2681	10	0.87932	D	0	-10.7394	17.6345	0.88118	0.0:1.0:0.0:0.0	.	457	C9J1K8	.	S	420;457	ENSP00000363040:G420S;ENSP00000392666:G457S	ENSP00000363040:G420S	G	-	1	0	MEGF9	122409939	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.777000	0.75028	2.693000	0.91896	0.650000	0.86243	GGT		0.453	MEGF9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055513.1	NM_001080497		5	212	0	0	0	1	0	5	212				
PEX5L	51555	broad.mit.edu	37	3	179525601	179525601	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr3:179525601G>A	ENST00000467460.1	-	14	1867	c.1537C>T	c.(1537-1539)Cgc>Tgc	p.R513C	PEX5L_ENST00000465751.1_Missense_Mutation_p.R489C|PEX5L_ENST00000485199.1_Missense_Mutation_p.R478C|PEX5L_ENST00000263962.8_Missense_Mutation_p.R511C|PEX5L_ENST00000472994.1_Missense_Mutation_p.R454C|PEX5L_ENST00000464614.1_Missense_Mutation_p.R405C|PEX5L_ENST00000392649.3_Missense_Mutation_p.R405C|PEX5L_ENST00000468741.1_Missense_Mutation_p.R321C|PEX5L_ENST00000476138.1_Missense_Mutation_p.R470C|PEX5L_ENST00000467440.2_5'UTR	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	peroxisomal biogenesis factor 5-like	513					maintenance of protein location (GO:0045185)|protein import into peroxisome matrix (GO:0016558)|protein import into peroxisome matrix, docking (GO:0016560)|regulation of cAMP-mediated signaling (GO:0043949)|regulation of membrane potential (GO:0042391)	cytosol (GO:0005829)|dendrite (GO:0030425)|peroxisomal membrane (GO:0005778)|receptor complex (GO:0043235)	peroxisome matrix targeting signal-1 binding (GO:0005052)|peroxisome targeting sequence binding (GO:0000268)|small GTPase binding (GO:0031267)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)			GCCCCGAGGCGGTTCCATAGT	0.522																																						ENST00000467460.1																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(7)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	49						c.(1537-1539)Cgc>Tgc		peroxisomal biogenesis factor 5-like							87.0	96.0	93.0					3																	179525601		2203	4300	6503	SO:0001583	missense	51555				protein import into peroxisome matrix|regulation of cAMP-mediated signaling	cytosol|peroxisomal membrane	peroxisome matrix targeting signal-1 binding	g.chr3:179525601G>A	AJ245503	CCDS3236.1, CCDS58861.1, CCDS58862.1, CCDS58863.1, CCDS58864.1, CCDS58865.1, CCDS58866.1, CCDS58867.1	3q27.1	2013-01-10			ENSG00000114757	ENSG00000114757		"""Tetratricopeptide (TTC) repeat domain containing"""	30024	protein-coding gene	gene with protein product		611058				11463335	Standard	NM_016559		Approved	PEX5R, PXR2	uc003fki.2	Q8IYB4	OTTHUMG00000157363	ENST00000467460.1:c.1537C>T	3.37:g.179525601G>A	ENSP00000419975:p.Arg513Cys					PEX5L_ENST00000485199.1_Missense_Mutation_p.R478C|PEX5L_ENST00000476138.1_Missense_Mutation_p.R470C|PEX5L_ENST00000472994.1_Missense_Mutation_p.R454C|PEX5L_ENST00000468741.1_Missense_Mutation_p.R321C|PEX5L_ENST00000467440.2_5'UTR|PEX5L_ENST00000465751.1_Missense_Mutation_p.R489C|PEX5L_ENST00000464614.1_Missense_Mutation_p.R405C|PEX5L_ENST00000392649.3_Missense_Mutation_p.R405C|PEX5L_ENST00000263962.8_Missense_Mutation_p.R511C	p.R513C	NM_001256751.1|NM_016559.2	NP_001243680.1|NP_057643.1	Q8IYB4	PEX5R_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.75e-26)|GBM - Glioblastoma multiforme(14;0.000518)		14	1867	-	all_cancers(143;3.94e-14)|Ovarian(172;0.0338)|Breast(254;0.183)		513					B7Z2A5|B7Z305|B7Z318|B7Z5Z5|B7Z8P2|E7EUV8|E7EUZ0|E9PEC1|E9PH97|Q9NQD1|Q9P2U3|Q9P2U4	Missense_Mutation	SNP	ENST00000467460.1	37	c.1537C>T	CCDS3236.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.651361	0.88056	.	.	ENSG00000114757	ENST00000467460;ENST00000263962;ENST00000485199;ENST00000382596;ENST00000392649;ENST00000468741;ENST00000476138;ENST00000467440;ENST00000472994;ENST00000464614;ENST00000465751	T;T;T;T;T;T;T;T;T	0.60672	0.17;0.17;0.17;0.17;0.17;0.17;0.17;0.17;0.17	6.07	6.07	0.98685	Tetratricopeptide-like helical (1);Tetratricopeptide repeat-containing (1);	0.000000	0.85682	D	0.000000	T	0.72779	0.3503	L	0.58810	1.83	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;0.999;1.0;1.0;1.0;1.0	D;D;D;D;D;D	0.77004	0.91;0.91;0.989;0.966;0.951;0.98	T	0.73600	-0.3931	10	0.87932	D	0	-8.8797	15.3789	0.74637	0.0:0.0:0.8607:0.1393	.	454;489;405;511;478;513	E7EUZ0;E9PH97;E9PEC1;Q8IYB4-2;Q8IYB4-3;Q8IYB4	.;.;.;.;.;PEX5R_HUMAN	C	513;511;478;511;405;321;470;401;454;405;489	ENSP00000419975:R513C;ENSP00000263962:R511C;ENSP00000418440:R478C;ENSP00000376420:R405C;ENSP00000418665:R321C;ENSP00000420555:R470C;ENSP00000418054:R454C;ENSP00000417270:R405C;ENSP00000419348:R489C	ENSP00000263962:R511C	R	-	1	0	PEX5L	181008295	1.000000	0.71417	1.000000	0.80357	0.918000	0.54935	7.774000	0.85478	2.890000	0.99128	0.585000	0.79938	CGC		0.522	PEX5L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000348577.1	NM_016559		46	112	0	0	0	1	0	46	112				
GNAS	2778	broad.mit.edu	37	20	57429690	57429690	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr20:57429690C>A	ENST00000371100.4	+	1	1922	c.1370C>A	c.(1369-1371)gCg>gAg	p.A457E	GNAS_ENST00000371075.3_Intron|GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000306120.3_Silent_p.R394R|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000371099.2_Missense_Mutation_p.A457E|GNAS_ENST00000371102.4_Missense_Mutation_p.A457E	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	GNAS complex locus	0					activation of adenylate cyclase activity (GO:0007190)|adenylate cyclase-activating adrenergic receptor signaling pathway (GO:0071880)|adenylate cyclase-activating dopamine receptor signaling pathway (GO:0007191)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|blood coagulation (GO:0007596)|bone development (GO:0060348)|cAMP biosynthetic process (GO:0006171)|cellular response to catecholamine stimulus (GO:0071870)|cellular response to glucagon stimulus (GO:0071377)|cellular response to prostaglandin E stimulus (GO:0071380)|cognition (GO:0050890)|developmental growth (GO:0048589)|energy reserve metabolic process (GO:0006112)|hair follicle placode formation (GO:0060789)|intracellular transport (GO:0046907)|platelet aggregation (GO:0070527)|positive regulation of cAMP biosynthetic process (GO:0030819)|positive regulation of cAMP-mediated signaling (GO:0043950)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of insulin secretion (GO:0050796)|sensory perception of smell (GO:0007608)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|heterotrimeric G-protein complex (GO:0005834)|intrinsic component of membrane (GO:0031224)|membrane (GO:0016020)|plasma membrane (GO:0005886)|trans-Golgi network membrane (GO:0032588)	adenylate cyclase activity (GO:0004016)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441	all_lung(29;0.0104)		BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)			GACTCCGGGGCGGCCCCTGAC	0.781			Mis		pituitary adenoma		"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""			TSP Lung(22;0.16)																											Colon(117;935 1597 6045 8307 46442)	ENST00000371100.4				Dom	yes		20	20q13.2	2778	Mis	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	yes	"""McCune-Albright syndrome; pseudohypoparathyroidism, type IA"""	E			pituitary adenoma		0				adrenal_gland(12)|autonomic_ganglia(1)|biliary_tract(5)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(7)|large_intestine(37)|liver(9)|lung(9)|ovary(16)|pancreas(56)|parathyroid(5)|pituitary(228)|prostate(2)|small_intestine(1)|stomach(1)|testis(2)|thyroid(35)|upper_aerodigestive_tract(3)|urinary_tract(1)	441						c.(1369-1371)gCg>gAg		GNAS complex locus							1.0	2.0	2.0					20																	57429690		607	1746	2353	SO:0001583	missense	2778				activation of adenylate cyclase activity|cellular response to glucagon stimulus|energy reserve metabolic process|G-protein coupled receptor protein signaling pathway|intracellular transport|platelet activation|regulation of insulin secretion|sensory perception of smell|transmembrane transport|water transport	heterotrimeric G-protein complex|intrinsic to membrane|trans-Golgi network membrane	adenylate cyclase activity|GTP binding|GTPase activity|guanyl-nucleotide exchange factor activity|identical protein binding|signal transducer activity	g.chr20:57429690C>A	M21142	CCDS13471.1, CCDS13472.1, CCDS42892.1, CCDS46622.1, CCDS46623.1, CCDS46624.1	20q13.2-q13.3	2010-03-01	2001-12-19	2001-12-20	ENSG00000087460	ENSG00000087460			4392	protein-coding gene	gene with protein product	"""secretogranin VI"""	139320	"""guanine nucleotide binding protein (G protein), alpha stimulating activity polypeptide 1"""	GNAS1			Standard	NM_000516		Approved	NESP55, NESP, GNASXL, GPSA, SCG6	uc002xzw.3	O95467	OTTHUMG00000033069	ENST00000371100.4:c.1370C>A	20.37:g.57429690C>A	ENSP00000360141:p.Ala457Glu	TSP Lung(22;0.16)				GNAS_ENST00000464624.2_3'UTR|GNAS_ENST00000371075.3_Intron|GNAS_ENST00000371098.2_Intron|GNAS_ENST00000371099.2_Missense_Mutation_p.A457E|GNAS_ENST00000371102.4_Missense_Mutation_p.A457E|GNAS_ENST00000603534.1_Intron|GNAS_ENST00000313949.7_Intron|GNAS_ENST00000306120.3_Silent_p.R394R	p.A457E	NM_001077490.1|NM_080425.2	NP_001070958.1|NP_536350.2	P63092	GNAS2_HUMAN	BRCA - Breast invasive adenocarcinoma(13;2.19e-08)|Colorectal(105;0.109)		1	1922	+	all_lung(29;0.0104)		0					A6NI00|E1P5G5|P04895|Q12927|Q14433|Q32P26|Q5JWD2|Q5JWD4|Q5JWD5|Q6NR75|Q6NXS0|Q8TBC0|Q96H70	Missense_Mutation	SNP	ENST00000371100.4	37	c.1370C>A	CCDS46622.1	.	.	.	.	.	.	.	.	.	.	C	13.14	2.147808	0.37923	.	.	ENSG00000087460	ENST00000371099;ENST00000371100;ENST00000371102	D;D	0.88046	-2.33;-2.33	4.57	-0.278	0.12894	.	2.463250	0.02062	N	0.050858	D	0.84678	0.5525	M	0.65975	2.015	0.09310	N	0.999992	B	0.17852	0.024	B	0.16289	0.015	T	0.59963	-0.7355	10	0.19590	T	0.45	.	7.2005	0.25879	0.316:0.3758:0.3082:0.0	.	457	Q5JWF2	GNAS1_HUMAN	E	457	ENSP00000360141:A457E;ENSP00000360143:A457E	ENSP00000360140:A457E	A	+	2	0	GNAS	56863085	0.001000	0.12720	0.000000	0.03702	0.126000	0.20510	0.615000	0.24329	-0.213000	0.10094	0.462000	0.41574	GCG		0.781	GNAS-001	PUTATIVE	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000080417.3	NM_000516		3	2	1	0	0.115264	1	0.11602	3	2				
ACTN4	81	broad.mit.edu	37	19	39214921	39214921	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:39214921C>T	ENST00000252699.2	+	15	1893	c.1817C>T	c.(1816-1818)tCg>tTg	p.S606L	ACTN4_ENST00000424234.2_Missense_Mutation_p.S216L|ACTN4_ENST00000390009.3_Missense_Mutation_p.S387L	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	actinin, alpha 4	606					actin filament bundle assembly (GO:0051017)|blood coagulation (GO:0007596)|negative regulation of cellular component movement (GO:0051271)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of cellular component movement (GO:0051272)|positive regulation of pinocytosis (GO:0048549)|positive regulation of sodium:proton antiporter activity (GO:0032417)|protein localization to tight junction (GO:1902396)|protein transport (GO:0015031)|regulation of apoptotic process (GO:0042981)|response to hypoxia (GO:0001666)|tight junction assembly (GO:0070830)	cell-cell junction (GO:0005911)|cortical cytoskeleton (GO:0030863)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|neuron projection (GO:0043005)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|platelet alpha granule lumen (GO:0031093)|protein complex (GO:0043234)|pseudopodium (GO:0031143)|ribonucleoprotein complex (GO:0030529)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin binding (GO:0003779)|actin filament binding (GO:0051015)|calcium ion binding (GO:0005509)|integrin binding (GO:0005178)|nucleoside binding (GO:0001882)|poly(A) RNA binding (GO:0044822)|protein homodimerization activity (GO:0042803)			NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)			ATCAAGCTGTCGGGCAGCAAC	0.652																																					Colon(168;199 1940 10254 46213 46384)	ENST00000252699.2																			0				NS(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(4)|lung(12)|ovary(1)|prostate(1)|skin(1)|urinary_tract(3)	30						c.(1816-1818)tCg>tTg		actinin, alpha 4							62.0	60.0	61.0					19																	39214921		2203	4300	6503	SO:0001583	missense	81				platelet activation|platelet degranulation|positive regulation of cellular component movement|positive regulation of sodium:hydrogen antiporter activity|protein transport|regulation of apoptosis	extracellular region|nucleolus|perinuclear region of cytoplasm|platelet alpha granule lumen|protein complex|pseudopodium|ribonucleoprotein complex	actin filament binding|calcium ion binding|integrin binding|nucleoside binding|protein homodimerization activity	g.chr19:39214921C>T	D89980	CCDS12518.1	19q13	2013-01-10			ENSG00000130402	ENSG00000130402		"""EF-hand domain containing"""	166	protein-coding gene	gene with protein product		604638	"""focal segmental glomerulosclerosis 1"""	FSGS1		9461087, 10700177	Standard	NM_004924		Approved		uc002oja.2	O43707	OTTHUMG00000137382	ENST00000252699.2:c.1817C>T	19.37:g.39214921C>T	ENSP00000252699:p.Ser606Leu					ACTN4_ENST00000390009.3_Missense_Mutation_p.S387L|ACTN4_ENST00000424234.2_Missense_Mutation_p.S216L	p.S606L	NM_004924.4	NP_004915.2	O43707	ACTN4_HUMAN	Lung(45;0.00172)|LUSC - Lung squamous cell carcinoma(53;0.00272)		15	1893	+	all_cancers(60;1.57e-05)|Ovarian(47;0.103)		606					A4K467|D6PXK4|O76048	Missense_Mutation	SNP	ENST00000252699.2	37	c.1817C>T	CCDS12518.1	.	.	.	.	.	.	.	.	.	.	C	13.57	2.277565	0.40294	.	.	ENSG00000130402	ENST00000252699;ENST00000424234;ENST00000390009;ENST00000440400	T;T;T;T	0.50813	0.73;0.73;0.73;0.73	3.75	2.71	0.32032	.	0.524555	0.17443	N	0.174052	T	0.42494	0.1205	M	0.65975	2.015	0.35812	D	0.823954	B	0.10296	0.003	B	0.08055	0.003	T	0.47262	-0.9131	10	0.20519	T	0.43	.	10.7908	0.46432	0.0:0.8966:0.0:0.1034	.	606	O43707	ACTN4_HUMAN	L	606;216;387;42	ENSP00000252699:S606L;ENSP00000411187:S216L;ENSP00000439497:S387L;ENSP00000398393:S42L	ENSP00000252699:S606L	S	+	2	0	ACTN4	43906761	0.007000	0.16637	0.987000	0.45799	0.992000	0.81027	1.406000	0.34646	2.106000	0.64143	0.561000	0.74099	TCG		0.652	ACTN4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268091.1			17	35	0	0	0	1	0	17	35				
ZNF595	152687	broad.mit.edu	37	4	59391	59391	+	Silent	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr4:59391C>T	ENST00000509152.2	+	2	257	c.72C>T	c.(70-72)gcC>gcT	p.A24A	ZNF595_ENST00000339368.6_3'UTR|ZNF595_ENST00000526473.2_Silent_p.A24A			Q8IYB9	ZN595_HUMAN	zinc finger protein 595	24	KRAB. {ECO:0000255|PROSITE- ProRule:PRU00119}.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)	p.A24A(2)		endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20		all_cancers(4;0.0738)|all_epithelial(65;0.139)		Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)		TGGACCCTGCCCAGCAGAATT	0.428																																						ENST00000509152.2																			2	Substitution - coding silent(2)	p.A24A(2)	lung(1)|kidney(1)	endometrium(5)|kidney(1)|large_intestine(1)|lung(11)|prostate(2)	20						c.(70-72)gcC>gcT		zinc finger protein 595							368.0	401.0	389.0					4																	59391		2203	4300	6503	SO:0001819	synonymous_variant	152687							g.chr4:59391C>T	BX537887	CCDS75075.1, CCDS75076.1, CCDS75077.1	4p16.3	2013-01-08				ENSG00000272602		"""Zinc fingers, C2H2-type"", ""-"""	27196	protein-coding gene	gene with protein product						12477932	Standard	NM_182524		Approved	FLJ31740		Q8IYB9		ENST00000509152.2:c.72C>T	4.37:g.59391C>T						ZNF595_ENST00000339368.6_3'UTR|ZNF595_ENST00000526473.2_Silent_p.A24A	p.A24A						Lung(54;0.0654)|Epithelial(2;0.0921)|all cancers(2;0.146)|LUSC - Lung squamous cell carcinoma(95;0.173)	2	257	+		all_cancers(4;0.0738)|all_epithelial(65;0.139)							Silent	SNP	ENST00000509152.2	37	c.72C>T																																																																																					0.428	ZNF595-004	PUTATIVE	basic|appris_candidate|exp_conf	protein_coding	protein_coding	OTTHUMT00000357817.2	NM_182524		30	506	0	0	0	1	0	30	506				
CILP	8483	broad.mit.edu	37	15	65499223	65499223	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr15:65499223C>A	ENST00000261883.4	-	4	487	c.321G>T	c.(319-321)caG>caT	p.Q107H		NM_003613.3	NP_003604	O75339	CILP1_HUMAN	cartilage intermediate layer protein, nucleotide pyrophosphohydrolase	107					negative regulation of insulin-like growth factor receptor signaling pathway (GO:0043569)	extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						CATGGACCACCTGGCCAGTGC	0.622																																						ENST00000261883.4																			0				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(2)|large_intestine(14)|lung(17)|ovary(4)|pancreas(2)|prostate(4)|skin(2)|urinary_tract(1)	55						c.(319-321)caG>caT		cartilage intermediate layer protein, nucleotide pyrophosphohydrolase							39.0	37.0	38.0					15																	65499223		2201	4299	6500	SO:0001583	missense	8483				negative regulation of insulin-like growth factor receptor signaling pathway	extracellular matrix part|extracellular space|proteinaceous extracellular matrix		g.chr15:65499223C>A	AY358904	CCDS10203.1	15q22	2013-01-14			ENSG00000138615	ENSG00000138615		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	1980	protein-coding gene	gene with protein product		603489				9722584, 9722583	Standard	NM_003613		Approved	HsT18872	uc002aon.2	O75339	OTTHUMG00000133140	ENST00000261883.4:c.321G>T	15.37:g.65499223C>A	ENSP00000261883:p.Gln107His						p.Q107H	NM_003613.3	NP_003604.3	O75339	CILP1_HUMAN			4	487	-			107					B2R8F7|Q6UW99|Q8IYI5	Missense_Mutation	SNP	ENST00000261883.4	37	c.321G>T	CCDS10203.1	.	.	.	.	.	.	.	.	.	.	C	11.42	1.633162	0.29068	.	.	ENSG00000138615	ENST00000261883	T	0.20332	2.08	5.05	2.11	0.27256	.	0.051279	0.85682	D	0.000000	T	0.20618	0.0496	L	0.55743	1.74	0.37426	D	0.913837	B	0.16166	0.016	B	0.15052	0.012	T	0.08472	-1.0720	10	0.87932	D	0	-0.2087	10.9918	0.47553	0.0:0.7629:0.0:0.2371	.	107	O75339	CILP1_HUMAN	H	107	ENSP00000261883:Q107H	ENSP00000261883:Q107H	Q	-	3	2	CILP	63286276	1.000000	0.71417	0.998000	0.56505	0.655000	0.38815	0.792000	0.26929	0.042000	0.15717	-1.134000	0.01955	CAG		0.622	CILP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256829.1	NM_003613		24	34	1	0	1.64293e-13	1	1.87154e-13	24	34				
TNFRSF1B	7133	broad.mit.edu	37	1	12251047	12251047	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:12251047C>T	ENST00000376259.3	+	3	301	c.212C>T	c.(211-213)tCg>tTg	p.S71L	MIR4632_ENST00000584158.1_RNA|TNFRSF1B_ENST00000492361.1_3'UTR|TNFRSF1B_ENST00000536782.1_Missense_Mutation_p.S71L	NM_001066.2	NP_001057.1	P20333	TNR1B_HUMAN	tumor necrosis factor receptor superfamily, member 1B	71					aging (GO:0007568)|cellular response to growth factor stimulus (GO:0071363)|cellular response to lipopolysaccharide (GO:0071222)|extrinsic apoptotic signaling pathway (GO:0097191)|immune response (GO:0006955)|inflammatory response (GO:0006954)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|negative regulation of inflammatory response (GO:0050728)|positive regulation of membrane protein ectodomain proteolysis (GO:0051044)|RNA destabilization (GO:0050779)|tumor necrosis factor-mediated signaling pathway (GO:0033209)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|varicosity (GO:0043196)	tumor necrosis factor-activated receptor activity (GO:0005031)|ubiquitin protein ligase binding (GO:0031625)			central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	Etanercept(DB00005)	ACCAAGACCTCGGACACCGTG	0.587																																						ENST00000376259.3																			0				central_nervous_system(1)|liver(1)|lung(4)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(211-213)tCg>tTg		tumor necrosis factor receptor superfamily, member 1B	Etanercept(DB00005)|Infliximab(DB00065)						152.0	147.0	149.0					1																	12251047		2203	4300	6503	SO:0001583	missense	7133				apoptosis	extracellular region|integral to membrane|membrane raft|plasma membrane	tumor necrosis factor receptor activity	g.chr1:12251047C>T	M32315	CCDS145.1	1p36.22	2008-02-05			ENSG00000028137	ENSG00000028137		"""Tumor necrosis factor receptor superfamily"", ""CD molecules"""	11917	protein-coding gene	gene with protein product		191191		TNFR2		2158863, 8702885	Standard	NM_001066		Approved	TNFBR, TNFR80, TNF-R75, TNF-R-II, p75, CD120b	uc001att.3	P20333	OTTHUMG00000001829	ENST00000376259.3:c.212C>T	1.37:g.12251047C>T	ENSP00000365435:p.Ser71Leu					TNFRSF1B_ENST00000536782.1_Missense_Mutation_p.S71L|TNFRSF1B_ENST00000492361.1_3'UTR	p.S71L	NM_001066.2	NP_001057.1	P20333	TNR1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0234)|Colorectal(212;5.52e-07)|COAD - Colon adenocarcinoma(227;0.000345)|BRCA - Breast invasive adenocarcinoma(304;0.000353)|Kidney(185;0.00102)|KIRC - Kidney renal clear cell carcinoma(229;0.00302)|STAD - Stomach adenocarcinoma(313;0.00815)|READ - Rectum adenocarcinoma(331;0.0284)	3	301	+	Ovarian(185;0.249)	Lung NSC(185;8.72e-05)|all_lung(284;9.92e-05)|Renal(390;0.000147)|Colorectal(325;0.000584)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	71					B1AJZ3|Q16042|Q6YI29|Q9UIH1	Missense_Mutation	SNP	ENST00000376259.3	37	c.212C>T	CCDS145.1	.	.	.	.	.	.	.	.	.	.	C	8.341	0.828689	0.16749	.	.	ENSG00000028137	ENST00000376259;ENST00000400863;ENST00000536782	D;D	0.91945	-2.94;-2.94	4.1	3.19	0.36642	TNFR/CD27/30/40/95 cysteine-rich region (4);	0.586689	0.16510	N	0.211286	D	0.85186	0.5639	L	0.51422	1.61	0.09310	N	1	P	0.37083	0.581	B	0.23419	0.046	T	0.74743	-0.3562	10	0.30854	T	0.27	-6.5634	7.7434	0.28853	0.0:0.8851:0.0:0.1149	.	71	P20333	TNR1B_HUMAN	L	71	ENSP00000365435:S71L;ENSP00000440425:S71L	ENSP00000365435:S71L	S	+	2	0	TNFRSF1B	12173634	0.528000	0.26314	0.084000	0.20598	0.022000	0.10575	1.851000	0.39338	1.103000	0.41568	0.655000	0.94253	TCG		0.587	TNFRSF1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000005133.1	NM_001066		31	182	0	0	0	1	0	31	182				
ZNF45	7596	broad.mit.edu	37	19	44417630	44417630	+	Nonsense_Mutation	SNP	G	G	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:44417630G>C	ENST00000269973.5	-	10	3048	c.1958C>G	c.(1957-1959)tCa>tGa	p.S653*	RP11-15A1.2_ENST00000586247.1_RNA|ZNF45_ENST00000589703.1_Nonsense_Mutation_p.S653*	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN	zinc finger protein 45	653					gene expression (GO:0010467)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						GATAAGACTTGAGCTCCAACT	0.448																																						ENST00000269973.5																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(2)|lung(4)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	17						c.(1957-1959)tCa>tGa		zinc finger protein 45							100.0	89.0	93.0					19																	44417630		2203	4300	6503	SO:0001587	stop_gained	7596				multicellular organismal development	nucleoplasm	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr19:44417630G>C	M67509	CCDS12632.1	19q13.2	2013-01-08	2005-01-11			ENSG00000124459		"""Zinc fingers, C2H2-type"", ""-"""	13111	protein-coding gene	gene with protein product		194554	"""zinc finger protein 45 (a Kruppel-associated box (KRAB) domain polypeptide)"", ""zinc finger protein 13"""	ZNF13		9067431	Standard	NM_003425		Approved		uc002oxw.2	Q02386		ENST00000269973.5:c.1958C>G	19.37:g.44417630G>C	ENSP00000269973:p.Ser653*					ZNF45_ENST00000589703.1_Nonsense_Mutation_p.S653*|RP11-15A1.2_ENST00000586247.1_RNA	p.S653*	NM_003425.3	NP_003416.1	Q02386	ZNF45_HUMAN			10	3048	-			653					P17016|P78472|Q9P1U9	Nonsense_Mutation	SNP	ENST00000269973.5	37	c.1958C>G	CCDS12632.1	.	.	.	.	.	.	.	.	.	.	G	47	13.050588	0.99716	.	.	ENSG00000124459	ENST00000269973	.	.	.	3.69	3.69	0.42338	.	0.000000	0.29579	N	0.011748	.	.	.	.	.	.	0.58432	D	0.999999	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	-5.0695	10.1687	0.42897	0.0:0.0:0.8002:0.1998	.	.	.	.	X	653	.	ENSP00000269973:S653X	S	-	2	0	ZNF45	49109470	.	.	0.999000	0.59377	0.991000	0.79684	.	.	2.077000	0.62373	0.455000	0.32223	TCA		0.448	ZNF45-001	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459919.1	NM_003425		29	58	0	0	0	1	0	29	58				
GPR179	440435	broad.mit.edu	37	17	36484801	36484801	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:36484801C>G	ENST00000342292.4	-	11	4671	c.4651G>C	c.(4651-4653)Gac>Cac	p.D1551H	GPR179_ENST00000584976.1_5'Flank	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN	G protein-coupled receptor 179	1551					visual perception (GO:0007601)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)				GAGGAATTGTCTAGACATGGG	0.537																																						ENST00000342292.4																			0				breast(4)|cervix(2)|endometrium(9)|kidney(3)|large_intestine(16)|lung(15)|ovary(4)|pancreas(1)|prostate(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(4651-4653)Gac>Cac		G protein-coupled receptor 179							129.0	130.0	130.0					17																	36484801		2092	4231	6323	SO:0001583	missense	440435					integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr17:36484801C>G		CCDS42308.1	17q21.1	2014-05-06	2006-02-16	2006-02-16	ENSG00000188888	ENSG00000277399		"""GPCR / Class C : Orphans"""	31371	protein-coding gene	gene with protein product		614515	"""GPR158-like 1"", ""GPR179"""	GPR158L1			Standard	NM_001004334		Approved	CSNB1E	uc002hpz.3	Q6PRD1	OTTHUMG00000188545	ENST00000342292.4:c.4651G>C	17.37:g.36484801C>G	ENSP00000345060:p.Asp1551His						p.D1551H	NM_001004334.2	NP_001004334.2	Q6PRD1	GP179_HUMAN			11	4671	-	Breast(7;2.97e-12)	Breast(25;0.0101)|Ovarian(249;0.15)	1551						Missense_Mutation	SNP	ENST00000342292.4	37	c.4651G>C	CCDS42308.1	.	.	.	.	.	.	.	.	.	.	C	22.6	4.316561	0.81469	.	.	ENSG00000188888	ENST00000342292	T	0.56611	0.45	3.88	3.88	0.44766	.	0.000000	0.46442	D	0.000294	T	0.56321	0.1977	L	0.47716	1.5	0.35489	D	0.798778	D	0.65815	0.995	P	0.58013	0.831	T	0.66881	-0.5811	10	0.72032	D	0.01	-12.5593	7.5425	0.27746	0.0:0.8832:0.0:0.1168	.	1551	Q6PRD1	GP179_HUMAN	H	1551	ENSP00000345060:D1551H	ENSP00000345060:D1551H	D	-	1	0	GPR179	33738327	0.263000	0.24083	0.109000	0.21407	0.786000	0.44442	2.413000	0.44618	2.148000	0.66965	0.561000	0.74099	GAC		0.537	GPR179-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255329.2			58	105	0	0	0	1	0	58	105				
LRRK1	79705	broad.mit.edu	37	15	101606077	101606077	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr15:101606077C>T	ENST00000388948.3	+	32	5794	c.5435C>T	c.(5434-5436)tCc>tTc	p.S1812F	LRRK1_ENST00000532145.1_3'UTR|LRRK1_ENST00000284395.5_Missense_Mutation_p.S1809F|RP11-505E24.2_ENST00000559857.1_RNA	NM_024652.3	NP_078928.3			leucine-rich repeat kinase 1											breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)			GAGGGGGACTCCATCGCGGAC	0.627																																						ENST00000284395.5																			0				breast(2)|central_nervous_system(6)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(14)|lung(25)|ovary(4)|prostate(1)|skin(1)	72						c.(5425-5427)tCc>tTc		leucine-rich repeat kinase 1							53.0	61.0	58.0					15																	101606077		2071	4202	6273	SO:0001583	missense	79705				small GTPase mediated signal transduction	mitochondrion	ATP binding|GTP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr15:101606077C>T	AB058693	CCDS42086.1	15q26.3	2007-01-29			ENSG00000154237	ENSG00000154237			18608	protein-coding gene	gene with protein product		610986				11347906, 14654223	Standard	XM_005254979		Approved	FLJ23119, KIAA1790, Roco1, RIPK6	uc002bwr.3	Q38SD2	OTTHUMG00000165514	ENST00000388948.3:c.5435C>T	15.37:g.101606077C>T	ENSP00000373600:p.Ser1812Phe					LRRK1_ENST00000388948.3_Missense_Mutation_p.S1812F|LRRK1_ENST00000532145.1_3'UTR|RP11-505E24.2_ENST00000559857.1_RNA	p.S1809F			Q38SD2	LRRK1_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.000932)|LUSC - Lung squamous cell carcinoma(107;0.187)|Lung(145;0.23)		33	5826	+	Melanoma(26;0.00505)|Lung NSC(78;0.00793)|all_lung(78;0.0094)		1812						Missense_Mutation	SNP	ENST00000388948.3	37	c.5426C>T	CCDS42086.1	.	.	.	.	.	.	.	.	.	.	C	5.204	0.223103	0.09863	.	.	ENSG00000154237	ENST00000388948;ENST00000284395;ENST00000529762;ENST00000542170	T;T	0.73258	-0.71;-0.73	5.5	-1.28	0.09318	.	1.093570	0.06704	N	0.771852	T	0.56016	0.1957	N	0.14661	0.345	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.35895	-0.9770	10	0.30854	T	0.27	.	16.3067	0.82849	0.0:0.7116:0.1471:0.1413	.	1812	Q38SD2	LRRK1_HUMAN	F	1812;1809;503;366	ENSP00000373600:S1812F;ENSP00000284395:S1809F	ENSP00000284395:S1809F	S	+	2	0	LRRK1	99423600	0.000000	0.05858	0.001000	0.08648	0.322000	0.28314	0.123000	0.15708	-0.580000	0.05944	0.655000	0.94253	TCC		0.627	LRRK1-003	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384567.2	NM_024652		15	48	0	0	0	1	0	15	48				
RNF17	56163	broad.mit.edu	37	13	25453369	25453369	+	Silent	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr13:25453369G>A	ENST00000255324.5	+	35	4870	c.4818G>A	c.(4816-4818)caG>caA	p.Q1606Q	RNF17_ENST00000381921.1_Silent_p.Q1564Q|RNF17_ENST00000339524.3_Silent_p.Q616Q	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN	ring finger protein 17	1606					multicellular organismal development (GO:0007275)|spermatid development (GO:0007286)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	hydrolase activity, acting on ester bonds (GO:0016788)|nucleic acid binding (GO:0003676)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36		Lung SC(185;0.0225)|Breast(139;0.077)		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)		ACGATGAACAGCATCCAGTTC	0.398																																						ENST00000255324.5																			0				NS(1)|breast(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|lung(15)|ovary(1)|prostate(3)|skin(6)	36						c.(4816-4818)caG>caA		ring finger protein 17							113.0	96.0	102.0					13																	25453369		2203	4300	6503	SO:0001819	synonymous_variant	56163				multicellular organismal development	cytoplasm|nucleus	hydrolase activity, acting on ester bonds|nucleic acid binding|zinc ion binding	g.chr13:25453369G>A	AF285602, AK001907	CCDS9308.2	13q12.13	2013-01-23			ENSG00000132972	ENSG00000132972		"""RING-type (C3HC4) zinc fingers"", ""Tudor domain containing"""	10060	protein-coding gene	gene with protein product	"""spermatogenesis associated 23"""	605793	"""tudor domain containing 4"""	TDRD4		11279525	Standard	NM_001184993		Approved	Mmip-2, SPATA23, FLJ11045	uc001upr.3	Q9BXT8	OTTHUMG00000016589	ENST00000255324.5:c.4818G>A	13.37:g.25453369G>A						RNF17_ENST00000381921.1_Silent_p.Q1564Q|RNF17_ENST00000339524.3_Silent_p.Q616Q	p.Q1606Q	NM_001184993.1|NM_031277.2	NP_001171922.1|NP_112567.2	Q9BXT8	RNF17_HUMAN		all cancers(112;0.0114)|OV - Ovarian serous cystadenocarcinoma(117;0.0311)|Epithelial(112;0.0524)	35	4870	+		Lung SC(185;0.0225)|Breast(139;0.077)	1606					Q5T2J9|Q6P1W3|Q9BXT7|Q9NUY9	Silent	SNP	ENST00000255324.5	37	c.4818G>A	CCDS9308.2																																																																																				0.398	RNF17-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044217.1	NM_031994		15	39	0	0	0	1	0	15	39				
XIRP1	165904	broad.mit.edu	37	3	39227313	39227313	+	Silent	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr3:39227313C>T	ENST00000340369.3	-	2	3852	c.3624G>A	c.(3622-3624)ggG>ggA	p.G1208G	XIRP1_ENST00000396251.1_Intron|XIRP1_ENST00000421646.1_Intron	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN	xin actin-binding repeat containing 1	1208					cardiac muscle cell development (GO:0055013)|negative regulation of cell proliferation (GO:0008285)|regulation of membrane potential (GO:0042391)|sarcomere organization (GO:0045214)	fascia adherens (GO:0005916)	poly(A) RNA binding (GO:0044822)			breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71				KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)		CCATCGCCTTCCCTGGTGGCC	0.692																																						ENST00000340369.3																			0				breast(4)|central_nervous_system(2)|endometrium(9)|haematopoietic_and_lymphoid_tissue(3)|kidney(4)|large_intestine(14)|lung(22)|ovary(4)|pancreas(1)|prostate(2)|skin(6)	71						c.(3622-3624)ggG>ggA		xin actin-binding repeat containing 1							27.0	30.0	29.0					3																	39227313		2203	4299	6502	SO:0001819	synonymous_variant	165904						actin binding	g.chr3:39227313C>T	AW755250	CCDS2683.1, CCDS56245.1	3p21.33	2008-02-05	2007-06-27	2007-06-27	ENSG00000168334	ENSG00000168334			14301	protein-coding gene	gene with protein product		609777	"""cardiomyopathy associated 1"""	CMYA1		12203715, 15454575	Standard	NM_001198621		Approved	DKFZp451D042, Xin	uc003cjk.2	Q702N8	OTTHUMG00000131297	ENST00000340369.3:c.3624G>A	3.37:g.39227313C>T						XIRP1_ENST00000396251.1_Intron|XIRP1_ENST00000421646.1_Intron	p.G1208G	NM_194293.2	NP_919269.2	Q702N8	XIRP1_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0517)|Kidney(284;0.065)	2	3852	-			1208					A0JP25|A4QPE2|Q68DF2|Q6ZTR3|Q702N9|Q8IVN7|Q8N1N3|Q8N904|Q8TCG7	Silent	SNP	ENST00000340369.3	37	c.3624G>A	CCDS2683.1																																																																																				0.692	XIRP1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000254065.1	XM_093522		25	19	0	0	0	1	0	25	19				
APC	324	broad.mit.edu	37	5	112151205	112151205	+	Missense_Mutation	SNP	G	G	A	rs149154604		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr5:112151205G>A	ENST00000457016.1	+	9	1228	c.848G>A	c.(847-849)cGa>cAa	p.R283Q	APC_ENST00000257430.4_Missense_Mutation_p.R283Q|APC_ENST00000508376.2_Missense_Mutation_p.R283Q			P25054	APC_HUMAN	adenomatous polyposis coli	283	Leu-rich.				anterior/posterior pattern specification (GO:0009952)|apoptotic process (GO:0006915)|axis specification (GO:0009798)|axonogenesis (GO:0007409)|canonical Wnt signaling pathway (GO:0060070)|canonical Wnt signaling pathway involved in negative regulation of apoptotic process (GO:0044336)|canonical Wnt signaling pathway involved in positive regulation of apoptotic process (GO:0044337)|cell adhesion (GO:0007155)|cell cycle arrest (GO:0007050)|cell migration (GO:0016477)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|cellular response to DNA damage stimulus (GO:0006974)|chromosome organization (GO:0051276)|cytoplasmic microtubule organization (GO:0031122)|dorsal/ventral pattern formation (GO:0009953)|hair follicle development (GO:0001942)|kidney development (GO:0001822)|metaphase/anaphase transition of mitotic cell cycle (GO:0007091)|mitotic cytokinesis (GO:0000281)|mitotic spindle assembly checkpoint (GO:0007094)|muscle cell cellular homeostasis (GO:0046716)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of epithelial cell proliferation involved in prostate gland development (GO:0060770)|negative regulation of MAPK cascade (GO:0043409)|negative regulation of microtubule depolymerization (GO:0007026)|negative regulation of odontogenesis (GO:0042483)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of cell division (GO:0051781)|positive regulation of cell migration (GO:0030335)|positive regulation of epithelial cell differentiation (GO:0030858)|positive regulation of microtubule polymerization (GO:0031116)|positive regulation of protein catabolic process (GO:0045732)|positive regulation of pseudopodium assembly (GO:0031274)|protein complex assembly (GO:0006461)|proximal/distal pattern formation (GO:0009954)|regulation of attachment of spindle microtubules to kinetochore (GO:0051988)|regulation of microtubule-based process (GO:0032886)|regulation of nitrogen compound metabolic process (GO:0051171)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoclast differentiation (GO:0045670)|retina development in camera-type eye (GO:0060041)|somatic stem cell maintenance (GO:0035019)|T cell differentiation in thymus (GO:0033077)|thymus development (GO:0048538)|tight junction assembly (GO:0070830)	axonal growth cone (GO:0044295)|beta-catenin destruction complex (GO:0030877)|centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|kinetochore (GO:0000776)|lamellipodium (GO:0030027)|lateral plasma membrane (GO:0016328)|microtubule plus-end (GO:0035371)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|tight junction (GO:0005923)	beta-catenin binding (GO:0008013)|gamma-catenin binding (GO:0045295)|microtubule binding (GO:0008017)|microtubule plus-end binding (GO:0051010)|protein kinase binding (GO:0019901)|protein kinase regulator activity (GO:0019887)			NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)		TCAACTACACGAATGGACCAT	0.383		12	"""D, Mis, N, F, S"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""			Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	TSP Lung(16;0.13)																											NSCLC(107;854 1218 9699 17025 28335 47076 52975)|Esophageal Squamous(32;282 584 32991 36563 39392 49665 50115)	ENST00000457016.1		12	yes	Rec	yes	Adenomatous polyposis coli; Turcot syndrome	5	5q21	324	"""D, Mis, N, F, S"""	adenomatous polyposis of the colon gene			"""E, M, O"""		"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""	"""colorectal, pancreatic, desmoid, hepatoblastoma, glioma, other CNS"""		0				NS(7)|adrenal_gland(6)|biliary_tract(5)|bone(6)|breast(29)|central_nervous_system(12)|cervix(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(6)|kidney(8)|large_intestine(2768)|liver(15)|lung(39)|oesophagus(1)|ovary(12)|pancreas(27)|prostate(15)|salivary_gland(2)|skin(14)|small_intestine(34)|soft_tissue(55)|stomach(136)|thyroid(22)|upper_aerodigestive_tract(8)|urinary_tract(20)	3261						c.(847-849)cGa>cAa		adenomatous polyposis coli							113.0	102.0	106.0					5																	112151205		2202	4300	6502	SO:0001583	missense	324	Turcot syndrome;Hereditary Desmoid Disease;Familial Adenomatous Polyposis	Familial Cancer Database	Brain tumor-colorectal polyp(osis) syndrome;Familial Infiltrative Mesenteric Fibromatosis;FAP, incl.: Gardner s., Attenuated FAP, Flat Adenoma s., Oldfield s,	canonical Wnt receptor signaling pathway|cell adhesion|cell cycle arrest|cell migration|cellular component disassembly involved in apoptosis|cytokinesis after mitosis|mitotic cell cycle spindle assembly checkpoint|negative regulation of canonical Wnt receptor signaling pathway|negative regulation of cyclin-dependent protein kinase activity|negative regulation of microtubule depolymerization|positive regulation of apoptosis|positive regulation of cell migration|positive regulation of pseudopodium assembly|protein complex assembly|regulation of attachment of spindle microtubules to kinetochore|response to DNA damage stimulus|tight junction assembly	adherens junction|APC-Axin-1-beta-catenin complex|Axin-APC-beta-catenin-GSK3B complex|beta-catenin destruction complex|centrosome|cytosol|kinetochore|lamellipodium|lateral plasma membrane|nucleus|ruffle membrane|tight junction	beta-catenin binding|gamma-catenin binding|microtubule plus-end binding|protein kinase binding|protein kinase regulator activity	g.chr5:112151205G>A	M74088	CCDS4107.1	5q21-q22	2014-09-17	2008-01-08		ENSG00000134982	ENSG00000134982		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"", ""Armadillo repeat containing"""	583	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 46"""	611731	"""adenomatosis polyposis coli"""			1651563	Standard	NM_001127511		Approved	DP2, DP3, DP2.5, PPP1R46	uc003kpy.4	P25054	OTTHUMG00000128806	ENST00000457016.1:c.848G>A	5.37:g.112151205G>A	ENSP00000413133:p.Arg283Gln	TSP Lung(16;0.13)				APC_ENST00000257430.4_Missense_Mutation_p.R283Q|APC_ENST00000508376.2_Missense_Mutation_p.R283Q	p.R283Q			P25054	APC_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;1.09e-113)|Epithelial(69;3.79e-112)|all cancers(49;1.67e-104)|BRCA - Breast invasive adenocarcinoma(61;0.00136)|COAD - Colon adenocarcinoma(37;0.00155)|Colorectal(14;0.00191)	9	1228	+		all_cancers(142;3.01e-27)|all_epithelial(76;2.3e-18)|all_hematologic(541;4.32e-09)|Ovarian(225;1.78e-06)|Lung NSC(167;0.000195)|Breast(839;0.000231)|all_lung(232;0.000247)|Colorectal(10;0.000355)|Prostate(80;0.00133)	283			Leu-rich.		D3DT03|Q15162|Q15163|Q93042	Missense_Mutation	SNP	ENST00000457016.1	37	c.848G>A	CCDS4107.1	.	.	.	.	.	.	.	.	.	.	G	16.26	3.074058	0.55646	.	.	ENSG00000134982	ENST00000457016;ENST00000507379;ENST00000257430;ENST00000508376;ENST00000512211	D;D;D;D;D	0.93307	-2.58;-3.2;-2.58;-2.58;-2.76	5.11	4.22	0.49857	.	0.134048	0.50627	D	0.000103	D	0.87803	0.6269	L	0.28192	0.835	0.43199	D	0.995046	B;B	0.20052	0.041;0.024	B;B	0.08055	0.003;0.003	D	0.84106	0.0398	10	0.35671	T	0.21	-10.044	14.4736	0.67533	0.0747:0.0:0.9253:0.0	.	285;283	Q4LE70;P25054	.;APC_HUMAN	Q	283;265;283;283;283	ENSP00000413133:R283Q;ENSP00000423224:R265Q;ENSP00000257430:R283Q;ENSP00000427089:R283Q;ENSP00000423828:R283Q	ENSP00000257430:R283Q	R	+	2	0	APC	112179104	1.000000	0.71417	0.975000	0.42487	0.981000	0.71138	5.844000	0.69430	2.520000	0.84964	0.650000	0.86243	CGA		0.383	APC-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250738.2	NM_000038		24	52	0	0	0	1	0	24	52				
CHST6	4166	broad.mit.edu	37	16	75512699	75512699	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr16:75512699C>T	ENST00000332272.4	-	3	1207	c.1028G>A	c.(1027-1029)cGc>cAc	p.R343H	RP11-77K12.4_ENST00000530512.3_RNA|CHST6_ENST00000390664.2_Missense_Mutation_p.R343H	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN	carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6	343					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|N-acetylglucosamine metabolic process (GO:0006044)|small molecule metabolic process (GO:0044281)|sulfur compound metabolic process (GO:0006790)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	N-acetylglucosamine 6-O-sulfotransferase activity (GO:0001517)			central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						CTGCACGCGGCGGATCTTGGC	0.652																																						ENST00000332272.4																			0				central_nervous_system(1)|cervix(1)|endometrium(1)|large_intestine(1)|lung(7)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(1027-1029)cGc>cAc		carbohydrate (N-acetylglucosamine 6-O) sulfotransferase 6							56.0	52.0	53.0					16																	75512699		2198	4300	6498	SO:0001583	missense	4166				keratan sulfate biosynthetic process|N-acetylglucosamine metabolic process	Golgi membrane|integral to membrane	N-acetylglucosamine 6-O-sulfotransferase activity	g.chr16:75512699C>T	AF280086	CCDS10918.1	16q22	2008-02-05			ENSG00000183196	ENSG00000183196		"""Sulfotransferases, membrane-bound"""	6938	protein-coding gene	gene with protein product		605294		MCDC1		8644739, 11017086	Standard	NM_021615		Approved		uc002fef.3	Q9GZX3	OTTHUMG00000137612	ENST00000332272.4:c.1028G>A	16.37:g.75512699C>T	ENSP00000328983:p.Arg343His					CHST6_ENST00000390664.2_Missense_Mutation_p.R343H|RP11-77K12.4_ENST00000530512.3_RNA	p.R343H	NM_021615.4	NP_067628.1	Q9GZX3	CHST6_HUMAN			3	1207	-			343					D3DUK3	Missense_Mutation	SNP	ENST00000332272.4	37	c.1028G>A	CCDS10918.1	.	.	.	.	.	.	.	.	.	.	C	12.69	2.014630	0.35511	.	.	ENSG00000183196	ENST00000332272;ENST00000390664	D;D	0.83250	-1.7;-1.7	4.9	3.72	0.42706	Sulfotransferase domain (1);	0.366516	0.28914	N	0.013740	T	0.72692	0.3492	L	0.36672	1.1	0.34683	D	0.724916	B	0.14805	0.011	B	0.16289	0.015	T	0.74328	-0.3701	10	0.46703	T	0.11	.	7.5631	0.27864	0.0:0.7924:0.0:0.2076	.	343	Q9GZX3	CHST6_HUMAN	H	343	ENSP00000328983:R343H;ENSP00000375079:R343H	ENSP00000328983:R343H	R	-	2	0	CHST6	74070200	0.447000	0.25673	1.000000	0.80357	0.957000	0.61999	0.304000	0.19228	2.278000	0.76064	0.591000	0.81541	CGC		0.652	CHST6-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000435478.1	NM_021615		32	66	0	0	0	1	0	32	66				
HSD17B7P2	158160	broad.mit.edu	37	10	38654432	38654432	+	RNA	SNP	A	A	G	rs2257765		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr10:38654432A>G	ENST00000494540.1	+	0	599					NR_003086.1				hydroxysteroid (17-beta) dehydrogenase 7 pseudogene 2																		TCATCTCGCAATGCAAGGAAA	0.453																																						ENST00000494540.1																			0																																																			158160							g.chr10:38654432A>G			10p11.1	2011-06-29			ENSG00000099251	ENSG00000099251			28120	pseudogene	pseudogene						10544267	Standard	NR_003086		Approved	HSD17B7, bA291L22.1	uc010qex.1		OTTHUMG00000017993		10.37:g.38654432A>G								NR_003086.1						0	599	+									RNA	SNP	ENST00000494540.1	37																																																																																						0.453	HSD17B7P2-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000047631.2	NR_003086		3	27	0	0	0	1	0	3	27				
STRIP1	85369	broad.mit.edu	37	1	110596374	110596374	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:110596374G>A	ENST00000369795.3	+	21	2376	c.2354G>A	c.(2353-2355)cGg>cAg	p.R785Q	STRIP1_ENST00000369796.1_Missense_Mutation_p.R690Q	NM_033088.3	NP_149079.2	Q5VSL9	STRP1_HUMAN	striatin interacting protein 1	785					cortical actin cytoskeleton organization (GO:0030866)|regulation of cell morphogenesis (GO:0022604)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)		p.R785Q(1)									CGCTATGACCGGGCCCACAGC	0.587											OREG0013647	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000369795.3																			1	Substitution - Missense(1)	p.R785Q(1)	endometrium(1)								c.(2353-2355)cGg>cAg		striatin interacting protein 1							54.0	52.0	53.0					1																	110596374		2203	4300	6503	SO:0001583	missense	85369							g.chr1:110596374G>A	AK027649	CCDS30798.1, CCDS59197.1	1p13.3	2012-11-05	2012-11-05	2012-11-05	ENSG00000143093	ENSG00000143093			25916	protein-coding gene	gene with protein product	"""FAR11 factor arrest 11 homolog A (yeast)"""		"""family with sequence similarity 40, member A"""	FAM40A		11214970, 12588993, 22782902, 22298706, 18782753	Standard	NM_033088		Approved	FLJ14743, KIAA1761, FAR11A	uc001dza.2	Q5VSL9	OTTHUMG00000170607	ENST00000369795.3:c.2354G>A	1.37:g.110596374G>A	ENSP00000358810:p.Arg785Gln		OREG0013647	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1428	STRIP1_ENST00000369796.1_Missense_Mutation_p.R690Q	p.R785Q	NM_033088.2	NP_149079.2					21	2376	+								Q0V925|Q5VSL8|Q658K2|Q6ZV31|Q8N598|Q96SN2|Q9C0A2	Missense_Mutation	SNP	ENST00000369795.3	37	c.2354G>A	CCDS30798.1	.	.	.	.	.	.	.	.	.	.	G	17.86	3.493594	0.64186	.	.	ENSG00000143093	ENST00000369796;ENST00000369795	T;T	0.41400	1.01;1.0	6.07	5.14	0.70334	.	0.059298	0.64402	D	0.000002	T	0.07863	0.0197	N	0.02011	-0.69	0.80722	D	1	B;B	0.33857	0.429;0.106	B;B	0.30495	0.116;0.035	T	0.16041	-1.0416	10	0.13108	T	0.6	-25.9276	16.3086	0.82859	0.0:0.0:0.8664:0.1336	.	690;785	Q5VSL9-2;Q5VSL9	.;FA40A_HUMAN	Q	690;785	ENSP00000358811:R690Q;ENSP00000358810:R785Q	ENSP00000358810:R785Q	R	+	2	0	FAM40A	110397897	1.000000	0.71417	0.979000	0.43373	0.998000	0.95712	4.191000	0.58372	1.541000	0.49316	0.655000	0.94253	CGG		0.587	STRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032213.1	NM_033088		14	46	0	0	0	1	0	14	46				
DCX	1641	broad.mit.edu	37	X	110644382	110644382	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chrX:110644382G>C	ENST00000338081.3	-	3	955	c.784C>G	c.(784-786)Ctg>Gtg	p.L262V	DCX_ENST00000371993.2_Missense_Mutation_p.L181V|DCX_ENST00000356915.2_Missense_Mutation_p.L181V|DCX_ENST00000488120.1_Missense_Mutation_p.L181V|DCX_ENST00000356220.3_Missense_Mutation_p.L181V|DCX_ENST00000496551.1_5'UTR	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN	doublecortin	262	Doublecortin 2. {ECO:0000255|PROSITE- ProRule:PRU00072}.				axon extension (GO:0048675)|axon guidance (GO:0007411)|brain development (GO:0007420)|central nervous system development (GO:0007417)|central nervous system projection neuron axonogenesis (GO:0021952)|dendrite morphogenesis (GO:0048813)|intracellular signal transduction (GO:0035556)|nervous system development (GO:0007399)|neuron migration (GO:0001764)	cytoskeleton (GO:0005856)|cytosol (GO:0005829)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|neuron projection (GO:0043005)	microtubule binding (GO:0008017)|protein kinase binding (GO:0019901)			breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						ATGGTAACCAGCTTGGGGCGC	0.527																																						ENST00000338081.3																			0				breast(1)|central_nervous_system(2)|endometrium(3)|kidney(1)|large_intestine(10)|lung(17)|skin(6)|upper_aerodigestive_tract(1)	41						c.(784-786)Ctg>Gtg		doublecortin							128.0	106.0	113.0					X																	110644382		2203	4300	6503	SO:0001583	missense	1641				axon guidance|central nervous system development|intracellular signal transduction	cytosol|microtubule associated complex	microtubule binding	g.chrX:110644382G>C	AF040254	CCDS14556.1, CCDS14557.1, CCDS14558.1	Xq22.3-q23	2008-08-01	2008-08-01		ENSG00000077279	ENSG00000077279			2714	protein-coding gene	gene with protein product	"""doublecortex"""	300121	"""doublecortex; lissencephaly, X-linked (doublecortin)"""			9489699, 9489700	Standard	NM_178151		Approved	SCLH, DC, LISX, DBCN, XLIS	uc004epd.3	O43602	OTTHUMG00000022204	ENST00000338081.3:c.784C>G	X.37:g.110644382G>C	ENSP00000337697:p.Leu262Val					DCX_ENST00000356915.2_Missense_Mutation_p.L181V|DCX_ENST00000496551.1_5'UTR|DCX_ENST00000371993.2_Missense_Mutation_p.L181V|DCX_ENST00000356220.3_Missense_Mutation_p.L181V|DCX_ENST00000488120.1_Missense_Mutation_p.L181V	p.L262V	NM_000555.3	NP_000546.2	O43602	DCX_HUMAN			3	955	-			262			Doublecortin 2.		A6NFY6|A9Z1V8|D3DUY8|D3DUY9|D3DUZ0|O43911|Q5JYZ5	Missense_Mutation	SNP	ENST00000338081.3	37	c.784C>G	CCDS14556.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	16.04|16.04	3.009568|3.009568	0.54361|0.54361	.|.	.|.	ENSG00000077279|ENSG00000077279	ENST00000356915;ENST00000371993;ENST00000338081;ENST00000356220;ENST00000488120|ENST00000358070	D;D;D;D;D|.	0.93189|.	-3.18;-3.18;-3.18;-3.18;-3.18|.	4.74|4.74	4.74|4.74	0.60224|0.60224	Doublecortin domain (4);|.	0.084454|.	0.49916|.	D|.	0.000131|.	T|T	0.56992|0.56992	0.2023|0.2023	L|L	0.31476|0.31476	0.935|0.935	0.80722|0.80722	D|D	1|1	B;B|.	0.24258|.	0.09;0.1|.	B;B|.	0.29524|.	0.103;0.074|.	T|T	0.53641|0.53641	-0.8410|-0.8410	10|5	0.30854|.	T|.	0.27|.	.|.	17.6068|17.6068	0.88040|0.88040	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	250;262|.	B4DM53;O43602|.	.;DCX_HUMAN|.	V|R	181;181;262;181;181|253	ENSP00000349385:L181V;ENSP00000361061:L181V;ENSP00000337697:L262V;ENSP00000348553:L181V;ENSP00000419861:L181V|.	ENSP00000337697:L262V|.	L|S	-|-	1|3	2|2	DCX|DCX	110531038|110531038	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.998000|0.998000	0.95712|0.95712	4.914000|4.914000	0.63348|0.63348	2.283000|2.283000	0.76528|0.76528	0.600000|0.600000	0.82982|0.82982	CTG|AGC		0.527	DCX-006	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000357058.1	NM_178153		25	10	0	0	0	1	0	25	10				
LPHN1	22859	broad.mit.edu	37	19	14273691	14273691	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:14273691G>A	ENST00000340736.6	-	6	1234	c.937C>T	c.(937-939)Cgc>Tgc	p.R313C	LPHN1_ENST00000361434.3_Missense_Mutation_p.R308C|CTB-55O6.12_ENST00000592086.1_RNA|LPHN1_ENST00000591528.1_5'Flank|CTB-55O6.12_ENST00000588387.1_RNA	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN	latrophilin 1	313	Olfactomedin-like. {ECO:0000255|PROSITE- ProRule:PRU00446}.				calcium-mediated signaling using intracellular calcium source (GO:0035584)|G-protein coupled receptor signaling pathway (GO:0007186)|heterophilic cell-cell adhesion (GO:0007157)|neuropeptide signaling pathway (GO:0007218)|positive regulation of synapse maturation (GO:0090129)	axon (GO:0030424)|cell junction (GO:0030054)|growth cone (GO:0030426)|integral component of membrane (GO:0016021)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)|synapse (GO:0045202)	carbohydrate binding (GO:0030246)|cell adhesion molecule binding (GO:0050839)|G-protein coupled receptor activity (GO:0004930)|latrotoxin receptor activity (GO:0016524)			central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						GATGCCGAGCGCTTGTCGTAA	0.622																																						ENST00000340736.6																			0				central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(1)|large_intestine(3)|liver(1)|lung(10)|ovary(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	32						c.(937-939)Cgc>Tgc		latrophilin 1							108.0	75.0	86.0					19																	14273691		2203	4300	6503	SO:0001583	missense	22859				neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity|sugar binding	g.chr19:14273691G>A	AB020628	CCDS12307.1, CCDS32928.1	19p13.2	2014-08-08				ENSG00000072071		"""-"", ""GPCR / Class B : Orphans"""	20973	protein-coding gene	gene with protein product						10994649	Standard	NM_014921		Approved	KIAA0821, CIRL1, LEC2	uc010xnn.2	O94910		ENST00000340736.6:c.937C>T	19.37:g.14273691G>A	ENSP00000340688:p.Arg313Cys					LPHN1_ENST00000361434.3_Missense_Mutation_p.R308C|CTB-55O6.12_ENST00000592086.1_RNA|CTB-55O6.12_ENST00000588387.1_RNA	p.R313C	NM_001008701.2	NP_001008701.1	O94910	LPHN1_HUMAN			6	1234	-			313			Olfactomedin-like.		Q96IE7|Q9BU07|Q9HAR3	Missense_Mutation	SNP	ENST00000340736.6	37	c.937C>T	CCDS32928.1	.	.	.	.	.	.	.	.	.	.	G	16.15	3.041371	0.55003	.	.	ENSG00000072071	ENST00000340736;ENST00000361434	D;D	0.89939	-2.59;-2.59	5.14	4.06	0.47325	Olfactomedin-like (3);	0.000000	0.85682	D	0.000000	D	0.94673	0.8282	M	0.88979	2.995	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.95175	0.8294	10	0.87932	D	0	.	12.7722	0.57427	0.0:0.0:0.8358:0.1642	.	308;313	O94910-2;O94910	.;LPHN1_HUMAN	C	313;308	ENSP00000340688:R313C;ENSP00000355328:R308C	ENSP00000340688:R313C	R	-	1	0	LPHN1	14134691	1.000000	0.71417	1.000000	0.80357	0.303000	0.27691	3.556000	0.53734	2.380000	0.81148	0.561000	0.74099	CGC		0.622	LPHN1-001	KNOWN	overlapping_uORF|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000459696.1	NM_014921		8	23	0	0	0	1	0	8	23				
COL22A1	169044	broad.mit.edu	37	8	139642946	139642946	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr8:139642946C>A	ENST00000303045.6	-	50	4101	c.3655G>T	c.(3655-3657)Ggg>Tgg	p.G1219W	COL22A1_ENST00000435777.1_Missense_Mutation_p.G1199W|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1219	Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			ACAGGTGACCCTTGGATTCCT	0.468										HNSCC(7;0.00092)																												ENST00000303045.6																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211						c.(3655-3657)Ggg>Tgg		collagen, type XXII, alpha 1							143.0	142.0	142.0					8																	139642946		2203	4300	6503	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139642946C>A	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.3655G>T	8.37:g.139642946C>A	ENSP00000303153:p.Gly1219Trp	HNSCC(7;0.00092)				COL22A1_ENST00000435777.1_Missense_Mutation_p.G1199W|COL22A1_ENST00000341807.4_5'UTR	p.G1219W	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		50	4101	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1219			Gly-rich.|Pro-rich.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.3655G>T	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	C	16.31	3.087265	0.55968	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.99637	-6.29;-6.29	5.65	5.65	0.86999	.	0.000000	0.49305	D	0.000143	D	0.99796	0.9913	H	0.98178	4.165	0.53688	D	0.999974	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.97210	0.9870	10	0.72032	D	0.01	.	15.093	0.72211	0.0:1.0:0.0:0.0	.	1199;1219	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	W	1219;1199;912	ENSP00000303153:G1219W;ENSP00000387655:G1199W	ENSP00000303153:G1219W	G	-	1	0	COL22A1	139712128	0.974000	0.33945	0.958000	0.39756	0.989000	0.77384	3.780000	0.55386	2.941000	0.99782	0.655000	0.94253	GGG		0.468	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		47	125	1	0	2.74224e-37	1	3.44323e-37	47	125				
CWC25	54883	broad.mit.edu	37	17	36977254	36977254	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:36977254C>T	ENST00000225428.5	-	2	388	c.91G>A	c.(91-93)Gag>Aag	p.E31K	CWC25_ENST00000536127.1_5'UTR	NM_017748.3	NP_060218.1	Q9NXE8	CWC25_HUMAN	CWC25 spliceosome-associated protein homolog (S. cerevisiae)	31										central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	14						CGCTCAGCCTCATGCTTCTGC	0.542																																						ENST00000225428.4																			0				central_nervous_system(1)|endometrium(4)|kidney(3)|large_intestine(1)|lung(4)|upper_aerodigestive_tract(1)	14						c.(91-93)Gag>Aag		CWC25 spliceosome-associated protein homolog (S. cerevisiae)							98.0	96.0	97.0					17																	36977254		2034	4196	6230	SO:0001583	missense	54883							g.chr17:36977254C>T	AK000298	CCDS45663.1	17q12	2010-01-26	2010-01-26	2010-01-26		ENSG00000273559			25989	protein-coding gene	gene with protein product			"""coiled-coil domain containing 49"""	CCDC49		19941820	Standard	NM_017748		Approved	FLJ20291	uc002hqu.4	Q9NXE8		ENST00000225428.5:c.91G>A	17.37:g.36977254C>T	ENSP00000225428:p.Glu31Lys					CWC25_ENST00000536127.1_5'UTR	p.E31K	NM_017748.3	NP_060218.1	Q9NXE8	CWC25_HUMAN			2	388	-			31					A0JLM3|Q68DK5	Missense_Mutation	SNP	ENST00000225428.5	37	c.91G>A	CCDS45663.1	.	.	.	.	.	.	.	.	.	.	C	18.74	3.688110	0.68271	.	.	ENSG00000108296	ENST00000225428	.	.	.	5.2	5.2	0.72013	CBF1-interacting co-repressor CIR, N-terminal (1);	0.051003	0.85682	D	0.000000	T	0.67116	0.2859	L	0.46885	1.475	0.80722	D	1	D	0.76494	0.999	D	0.74023	0.982	T	0.60073	-0.7334	9	0.08837	T	0.75	.	17.377	0.87395	0.0:1.0:0.0:0.0	.	31	Q9NXE8	CWC25_HUMAN	K	31	.	ENSP00000225428:E31K	E	-	1	0	CWC25	34230780	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.297000	0.78799	2.438000	0.82558	0.650000	0.86243	GAG		0.542	CWC25-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442186.6	NM_017748		49	95	0	0	0	1	0	49	95				
ZNF292	23036	broad.mit.edu	37	6	87969527	87969527	+	Silent	SNP	T	T	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr6:87969527T>C	ENST00000369577.3	+	8	6223	c.6180T>C	c.(6178-6180)atT>atC	p.I2060I	ZNF292_ENST00000339907.4_Silent_p.I2055I	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN	zinc finger protein 292	2060						nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)		BRCA - Breast invasive adenocarcinoma(108;0.0199)		TACAAGTGATTACAGTTACTT	0.358																																						ENST00000369577.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(27)|lung(21)|ovary(4)|prostate(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	89						c.(6178-6180)atT>atC		zinc finger protein 292							40.0	37.0	38.0					6																	87969527		1823	4070	5893	SO:0001819	synonymous_variant	23036				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr6:87969527T>C	AB011102	CCDS47457.1	6q15	2008-10-23			ENSG00000188994	ENSG00000188994		"""Zinc fingers, C2H2-type"""	18410	protein-coding gene	gene with protein product						9628581	Standard	NM_015021		Approved	KIAA0530, ZFP292, bA393I2.3, Zn-15, Zn-16	uc003plm.4	O60281	OTTHUMG00000015164	ENST00000369577.3:c.6180T>C	6.37:g.87969527T>C						ZNF292_ENST00000339907.4_Silent_p.I2055I	p.I2060I	NM_015021.1	NP_055836.1	O60281	ZN292_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0199)	8	6223	+		all_cancers(76;3.82e-09)|Prostate(29;1.34e-10)|Acute lymphoblastic leukemia(125;2.17e-10)|all_hematologic(105;1.08e-06)|all_epithelial(107;5.31e-05)	2060					Q5W0B2|Q7Z3L7|Q9H8G3|Q9H8J4	Silent	SNP	ENST00000369577.3	37	c.6180T>C	CCDS47457.1																																																																																				0.358	ZNF292-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000376192.2	NM_015021		4	10	0	0	0	1	0	4	10				
KATNA1	11104	broad.mit.edu	37	6	149959596	149959596	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr6:149959596G>T	ENST00000335647.5	-	1	132	c.88C>A	c.(88-90)Cag>Aag	p.Q30K	KATNA1_ENST00000367411.2_Missense_Mutation_p.Q30K|KATNA1_ENST00000335643.8_Missense_Mutation_p.Q30K					katanin p60 (ATPase containing) subunit A 1											endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	12		Ovarian(120;0.0164)		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)		AGAACTCCCTGATAATAGACC	0.398																																						ENST00000367411.2																			0				endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|ovary(1)|skin(1)|urinary_tract(1)	12						c.(88-90)Cag>Aag		katanin p60 (ATPase containing) subunit A 1							216.0	215.0	216.0					6																	149959596		2203	4300	6503	SO:0001583	missense	11104				cell division|interphase of mitotic cell cycle|mitosis	microtubule|microtubule organizing center|spindle pole	ATP binding|microtubule binding|microtubule-severing ATPase activity|protein heterodimerization activity	g.chr6:149959596G>T	AF056022	CCDS5217.1, CCDS56456.1	6q24.3	2011-01-25	2011-01-25		ENSG00000186625	ENSG00000186625		"""ATPases / AAA-type"""	6216	protein-coding gene	gene with protein product		606696	"""katanin p60 (ATPase-containing) subunit A 1"""			9658175	Standard	NM_007044		Approved		uc003qms.3	O75449	OTTHUMG00000015787	ENST00000335647.5:c.88C>A	6.37:g.149959596G>T	ENSP00000335106:p.Gln30Lys					KATNA1_ENST00000335643.8_Missense_Mutation_p.Q30K|KATNA1_ENST00000335647.5_Missense_Mutation_p.Q30K	p.Q30K	NM_007044.3	NP_008975.1	O75449	KTNA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(155;2.95e-12)|GBM - Glioblastoma multiforme(68;0.173)	2	346	-		Ovarian(120;0.0164)	30			Interaction with microtubule.			Missense_Mutation	SNP	ENST00000335647.5	37	c.88C>A	CCDS5217.1	.	.	.	.	.	.	.	.	.	.	G	19.14	3.769873	0.69992	.	.	ENSG00000186625	ENST00000335647;ENST00000335643;ENST00000367411;ENST00000444282;ENST00000420200	T;T;T;T;T	0.29397	1.57;1.57;1.57;1.57;1.57	5.67	5.67	0.87782	.	0.165189	0.56097	D	0.000035	T	0.21674	0.0522	L	0.57536	1.79	0.58432	D	0.999998	B;B;B	0.33807	0.003;0.426;0.001	B;B;B	0.32090	0.016;0.14;0.008	T	0.02774	-1.1112	9	.	.	.	.	19.8329	0.96643	0.0:0.0:1.0:0.0	.	30;30;30	A8K7S5;O75449-2;O75449	.;.;KTNA1_HUMAN	K	30	ENSP00000335106:Q30K;ENSP00000335180:Q30K;ENSP00000356381:Q30K;ENSP00000390322:Q30K;ENSP00000398993:Q30K	.	Q	-	1	0	KATNA1	150001289	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.132000	0.71676	2.688000	0.91661	0.650000	0.86243	CAG		0.398	KATNA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042641.2	NM_007044		57	123	1	0	5.73376e-24	1	7.027e-24	57	123				
TTN	7273	broad.mit.edu	37	2	179413860	179413860	+	Silent	SNP	T	T	G	rs569803137	byFrequency	TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:179413860T>G	ENST00000591111.1	-	289	87794	c.87570A>C	c.(87568-87570)acA>acC	p.T29190T	TTN_ENST00000589042.1_Silent_p.T30831T|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Silent_p.T28263T|TTN-AS1_ENST00000456053.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Silent_p.T21958T|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Silent_p.T21766T|TTN-AS1_ENST00000592600.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Silent_p.T21891T			Q8WZ42	TITIN_HUMAN	titin	29190	Fibronectin type-III 113. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TTGATGTGTCTGTTACTTTGA	0.448																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(92491-92493)acA>acC		titin							76.0	75.0	76.0					2																	179413860		1941	4152	6093	SO:0001819	synonymous_variant	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179413860T>G	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.87570A>C	2.37:g.179413860T>G						TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Silent_p.T21766T|TTN-AS1_ENST00000592750.1_RNA|RP11-65L3.2_ENST00000603415.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Silent_p.T21958T|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000591111.1_Silent_p.T29190T|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Silent_p.T21891T|TTN_ENST00000342992.6_Silent_p.T28263T|TTN-AS1_ENST00000592689.1_RNA	p.T30831T	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		339	92717	-			29190			Fibronectin type-III 124.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Silent	SNP	ENST00000591111.1	37	c.92493A>C																																																																																					0.448	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		13	34	0	0	0	1	0	13	34				
TRRAP	8295	broad.mit.edu	37	7	98609011	98609011	+	Silent	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:98609011C>T	ENST00000359863.4	+	71	11357	c.11148C>T	c.(11146-11148)gaC>gaT	p.D3716D	TRRAP_ENST00000355540.3_Silent_p.D3687D|AC004893.11_ENST00000360902.1_RNA|TRRAP_ENST00000446306.3_Silent_p.D3705D	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	transformation/transcription domain-associated protein	3716	PI3K/PI4K. {ECO:0000255|PROSITE- ProRule:PRU00269}.				chromatin organization (GO:0006325)|histone acetylation (GO:0016573)|histone deubiquitination (GO:0016578)|histone H2A acetylation (GO:0043968)|histone H4 acetylation (GO:0043967)|mitotic cell cycle checkpoint (GO:0007093)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	NuA4 histone acetyltransferase complex (GO:0035267)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PCAF complex (GO:0000125)|STAGA complex (GO:0030914)|Swr1 complex (GO:0000812)|transcription factor TFTC complex (GO:0033276)	phosphotransferase activity, alcohol group as acceptor (GO:0016773)|transcription coactivator activity (GO:0003713)|transcription cofactor activity (GO:0003712)			NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		STAD - Stomach adenocarcinoma(171;0.215)			ACATAAACGACGCGACTGGAG	0.507																																						ENST00000359863.4																			0				NS(3)|breast(1)|central_nervous_system(10)|endometrium(16)|kidney(7)|large_intestine(36)|liver(1)|lung(54)|ovary(10)|pancreas(1)|prostate(8)|skin(16)|stomach(5)|upper_aerodigestive_tract(6)|urinary_tract(2)	176						c.(11146-11148)gaC>gaT		transformation/transcription domain-associated protein							109.0	99.0	102.0					7																	98609011		2203	4300	6503	SO:0001819	synonymous_variant	8295				histone deubiquitination|histone H2A acetylation|histone H4 acetylation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	NuA4 histone acetyltransferase complex|PCAF complex|STAGA complex|transcription factor TFTC complex	phosphotransferase activity, alcohol group as acceptor|protein binding|transcription cofactor activity	g.chr7:98609011C>T	AF076974	CCDS5659.1, CCDS59066.1	7q21.2-q22.1	2010-06-22			ENSG00000196367	ENSG00000196367			12347	protein-coding gene	gene with protein product		603015				9708738, 9885574	Standard	NM_003496		Approved	TR-AP, PAF400, Tra1	uc003upp.3	Q9Y4A5	OTTHUMG00000150403	ENST00000359863.4:c.11148C>T	7.37:g.98609011C>T						TRRAP_ENST00000355540.3_Silent_p.D3687D|TRRAP_ENST00000446306.3_Silent_p.D3705D	p.D3716D	NM_001244580.1	NP_001231509.1	Q9Y4A5	TRRAP_HUMAN	STAD - Stomach adenocarcinoma(171;0.215)		71	11357	+	all_cancers(62;6.96e-09)|all_epithelial(64;4.86e-09)|Lung NSC(181;0.01)|all_lung(186;0.016)|Esophageal squamous(72;0.0274)		3716			PI3K/PI4K.		A4D265|O75218|Q9Y631|Q9Y6H4	Silent	SNP	ENST00000359863.4	37	c.11148C>T	CCDS59066.1	.	.	.	.	.	.	.	.	.	.	C	3.268	-0.149761	0.06585	.	.	ENSG00000196367	ENST00000456197	.	.	.	5.67	-10.7	0.00240	.	.	.	.	.	T	0.65606	0.2707	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.76958	-0.2766	4	.	.	.	.	20.4489	0.99124	0.0:0.2204:0.0:0.7796	.	.	.	.	M	3445	.	.	T	+	2	0	TRRAP	98446947	0.215000	0.23574	0.003000	0.11579	0.493000	0.33554	-0.447000	0.06828	-2.304000	0.00655	-0.302000	0.09304	ACG		0.507	TRRAP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317978.1	NM_003496		26	69	0	0	0	1	0	26	69				
GSKIP	51527	broad.mit.edu	37	14	96851867	96851867	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr14:96851867G>A	ENST00000556095.1	+	4	2078	c.266G>A	c.(265-267)gGc>gAc	p.G89D	RNU2-33P_ENST00000410344.1_RNA|GSKIP_ENST00000438650.1_Missense_Mutation_p.G89D|GSKIP_ENST00000554182.1_Missense_Mutation_p.G89D|GSKIP_ENST00000555181.1_Missense_Mutation_p.G89D	NM_001271904.1	NP_001258833.1	Q9P0R6	GSKIP_HUMAN	GSK3B interacting protein	89						cytoplasm (GO:0005737)											TAGGTGGTAGGCTATGCTTTT	0.403																																						ENST00000556095.1																			0											c.(265-267)gGc>gAc		GSK3B interacting protein							149.0	130.0	136.0					14																	96851867		2203	4300	6503	SO:0001583	missense	51527							g.chr14:96851867G>A	AF151044	CCDS32153.1	14q32.2	2012-09-25	2012-09-25	2012-09-25	ENSG00000100744	ENSG00000100744			20343	protein-coding gene	gene with protein product	"""GSK3beta interaction protein"""		"""chromosome 14 open reading frame 129"""	C14orf129		16981698, 21328310	Standard	NM_001271904		Approved		uc031qqf.1	Q9P0R6	OTTHUMG00000171420	ENST00000556095.1:c.266G>A	14.37:g.96851867G>A	ENSP00000451188:p.Gly89Asp					GSKIP_ENST00000438650.1_Missense_Mutation_p.G89D|GSKIP_ENST00000555181.1_Missense_Mutation_p.G89D|GSKIP_ENST00000554182.1_Missense_Mutation_p.G89D	p.G89D	NM_001271904.1	NP_001258833.1					4	2078	+								B3KSZ0|Q9BST1|Q9NWK0	Missense_Mutation	SNP	ENST00000556095.1	37	c.266G>A	CCDS32153.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.968134	0.74131	.	.	ENSG00000100744	ENST00000555181;ENST00000554182;ENST00000556095;ENST00000438650;ENST00000555757	.	.	.	5.76	5.76	0.90799	GSKIP/TIF31 domain (1);	0.047853	0.85682	D	0.000000	T	0.78848	0.4348	M	0.77313	2.365	0.80722	D	1	D	0.62365	0.991	D	0.66602	0.945	T	0.80471	-0.1368	9	0.66056	D	0.02	-20.5082	16.4448	0.83919	0.0:0.1398:0.8602:0.0	.	89	Q9P0R6	GSKIP_HUMAN	D	89	.	ENSP00000412315:G89D	G	+	2	0	C14orf129	95921620	1.000000	0.71417	0.979000	0.43373	0.994000	0.84299	7.386000	0.79775	2.726000	0.93360	0.655000	0.94253	GGC		0.403	GSKIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000413338.1	NM_016472		4	50	0	0	0	1	0	4	50				
ASB6	140459	broad.mit.edu	37	9	132400246	132400246	+	Silent	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr9:132400246G>A	ENST00000277458.4	-	6	1254	c.1089C>T	c.(1087-1089)ttC>ttT	p.F363F	RP11-483H20.4_ENST00000455074.1_RNA|ASB6_ENST00000450050.2_Silent_p.F284F|ASB6_ENST00000277459.4_3'UTR	NM_017873.3	NP_060343.1	Q9NWX5	ASB6_HUMAN	ankyrin repeat and SOCS box containing 6	363	SOCS box. {ECO:0000255|PROSITE- ProRule:PRU00194}.				intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)				NS(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	15		Ovarian(14;0.00556)				GCCTCAAGGAGAAGTGGAGGG	0.592																																						ENST00000277458.4																			0				NS(1)|endometrium(4)|kidney(1)|large_intestine(3)|lung(4)|prostate(2)	15						c.(1087-1089)ttC>ttT		ankyrin repeat and SOCS box containing 6							43.0	42.0	43.0					9																	132400246		2203	4300	6503	SO:0001819	synonymous_variant	140459				intracellular signal transduction	cytoplasm		g.chr9:132400246G>A		CCDS6924.1, CCDS6925.1, CCDS75919.1	9q34.13	2013-01-10	2011-01-25		ENSG00000148331	ENSG00000148331		"""Ankyrin repeat domain containing"""	17181	protein-coding gene	gene with protein product		615051	"""ankyrin repeat and SOCS box-containing 6"""				Standard	NM_017873		Approved		uc004byf.2	Q9NWX5	OTTHUMG00000020787	ENST00000277458.4:c.1089C>T	9.37:g.132400246G>A						ASB6_ENST00000277459.4_3'UTR|ASB6_ENST00000450050.2_Silent_p.F284F	p.F363F	NM_017873.3	NP_060343.1	Q9NWX5	ASB6_HUMAN			6	1254	-		Ovarian(14;0.00556)	363			SOCS box.		Q5SZB7|Q9BV15	Silent	SNP	ENST00000277458.4	37	c.1089C>T	CCDS6924.1																																																																																				0.592	ASB6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054594.1	NM_017873		20	51	0	0	0	1	0	20	51				
COL22A1	169044	broad.mit.edu	37	8	139610998	139610998	+	Silent	SNP	T	T	G			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr8:139610998T>G	ENST00000303045.6	-	61	4775	c.4329A>C	c.(4327-4329)ccA>ccC	p.P1443P	COL22A1_ENST00000435777.1_Silent_p.P1423P|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1443	Collagen-like 14.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			CTGGAGGCCCTGGGGGTCCAA	0.632										HNSCC(7;0.00092)																												ENST00000303045.6																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211						c.(4327-4329)ccA>ccC		collagen, type XXII, alpha 1							61.0	66.0	65.0					8																	139610998		2203	4300	6503	SO:0001819	synonymous_variant	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139610998T>G	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.4329A>C	8.37:g.139610998T>G		HNSCC(7;0.00092)				COL22A1_ENST00000435777.1_Silent_p.P1423P|COL22A1_ENST00000341807.4_5'UTR	p.P1443P	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		61	4775	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1443			Collagen-like 14.|Gly-rich.|Pro-rich.		B7ZMH0|C9K0G4|Q8IVT9	Silent	SNP	ENST00000303045.6	37	c.4329A>C	CCDS6376.1																																																																																				0.632	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		29	61	0	0	0	1	0	29	61				
SCN1A	6323	broad.mit.edu	37	2	166908346	166908346	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:166908346T>G	ENST00000303395.4	-	6	846	c.847A>C	c.(847-849)Acc>Ccc	p.T283P	SCN1A_ENST00000423058.2_Missense_Mutation_p.T283P|AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.T283P|SCN1A_ENST00000409050.1_Missense_Mutation_p.T283P|AC010127.3_ENST00000595268.1_RNA			P35498	SCN1A_HUMAN	sodium channel, voltage-gated, type I, alpha subunit	283					adult walking behavior (GO:0007628)|membrane depolarization during action potential (GO:0086010)|neuromuscular process controlling posture (GO:0050884)|neuronal action potential (GO:0019228)|neuronal action potential propagation (GO:0019227)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)	axon initial segment (GO:0043194)|intercalated disc (GO:0014704)|neuronal cell body (GO:0043025)|node of Ranvier (GO:0033268)|plasma membrane (GO:0005886)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)|Z disc (GO:0030018)	voltage-gated sodium channel activity (GO:0005248)			NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200					Dronedarone(DB04855)|Nitrazepam(DB01595)|Permethrin(DB04930)|Phenacemide(DB01121)|Phenazopyridine(DB01438)|Phenytoin(DB00252)|Topiramate(DB00273)|Valproic Acid(DB00313)|Zonisamide(DB00909)	GAAGCATTGGTGGGAGGCCAT	0.393																																						ENST00000423058.2																			0				NS(4)|breast(5)|endometrium(16)|haematopoietic_and_lymphoid_tissue(4)|kidney(8)|large_intestine(33)|lung(87)|ovary(7)|pancreas(1)|prostate(9)|skin(23)|upper_aerodigestive_tract(2)|urinary_tract(1)	200						c.(847-849)Acc>Ccc		sodium channel, voltage-gated, type I, alpha subunit	Lamotrigine(DB00555)|Levetiracetam(DB01202)|Phenacemide(DB01121)|Phenytoin(DB00252)|Topiramate(DB00273)|Zonisamide(DB00909)						89.0	90.0	90.0					2																	166908346		2203	4299	6502	SO:0001583	missense	6323					voltage-gated sodium channel complex	voltage-gated sodium channel activity	g.chr2:166908346T>G	AB093548	CCDS33316.1, CCDS54413.1, CCDS54414.1	2q24.3	2014-09-17	2007-01-23		ENSG00000144285	ENSG00000144285		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10585	protein-coding gene	gene with protein product		182389	"""febrile convulsions 3"""	SCN1, FEB3		8062593, 16382098, 11823106	Standard	NM_006920		Approved	Nav1.1, GEFSP2, HBSCI, NAC1, SMEI	uc021vsb.1	P35498	OTTHUMG00000044173	ENST00000303395.4:c.847A>C	2.37:g.166908346T>G	ENSP00000303540:p.Thr283Pro					AC010127.3_ENST00000599041.1_RNA|AC010127.3_ENST00000595647.1_RNA|SCN1A_ENST00000409050.1_Missense_Mutation_p.T283P|SCN1A_ENST00000303395.4_Missense_Mutation_p.T283P|AC010127.3_ENST00000595268.1_RNA|SCN1A_ENST00000375405.3_Missense_Mutation_p.T283P	p.T283P	NM_001165963.1|NM_001202435.1	NP_001159435.1|NP_001189364.1	P35498	SCN1A_HUMAN			6	864	-			283					E9PG49|Q16172|Q585T7|Q8IUJ6|Q96LA3|Q9C008	Missense_Mutation	SNP	ENST00000303395.4	37	c.847A>C	CCDS54413.1	.	.	.	.	.	.	.	.	.	.	T	11.09	1.535235	0.27475	.	.	ENSG00000144285	ENST00000423058;ENST00000303395;ENST00000375405;ENST00000409050	D;D;D;D	0.96265	-3.96;-3.96;-3.92;-3.9	5.41	5.41	0.78517	Ion transport (1);	0.933187	0.09113	N	0.846845	D	0.89719	0.6796	N	0.04508	-0.205	0.30032	N	0.813405	B;B;B	0.17465	0.001;0.004;0.022	B;B;B	0.16722	0.002;0.004;0.016	D	0.83431	0.0038	10	0.33141	T	0.24	.	8.442	0.32820	0.0:0.1169:0.0:0.8831	.	283;283;283	P35498-2;E9PG49;P35498	.;.;SCN1A_HUMAN	P	283	ENSP00000407030:T283P;ENSP00000303540:T283P;ENSP00000364554:T283P;ENSP00000386312:T283P	ENSP00000303540:T283P	T	-	1	0	SCN1A	166616592	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	0.587000	0.23909	2.171000	0.68590	0.533000	0.62120	ACC		0.393	SCN1A-001	KNOWN	non_canonical_U12|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000102661.1	NM_006920		10	28	0	0	0	1	0	10	28				
COL16A1	1307	broad.mit.edu	37	1	32137238	32137238	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:32137238G>A	ENST00000373672.3	-	48	3644	c.3128C>T	c.(3127-3129)tCc>tTc	p.S1043F	COL16A1_ENST00000271069.6_Missense_Mutation_p.S1043F	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN	collagen, type XVI, alpha 1	1043	Collagen-like 6.|Triple-helical region 2 (COL2) with 2 imperfections.				cell adhesion (GO:0007155)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|female pregnancy (GO:0007565)|integrin-mediated signaling pathway (GO:0007229)	collagen type XVI trimer (GO:0005597)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	integrin binding (GO:0005178)			breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)		STAD - Stomach adenocarcinoma(196;0.059)		AGGACCCGGGGAGCCCCTCAT	0.607																																					Colon(143;498 1786 21362 25193 36625)	ENST00000373672.3																			0				breast(4)|central_nervous_system(2)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(7)|lung(15)|ovary(8)|prostate(4)	48						c.(3127-3129)tCc>tTc		collagen, type XVI, alpha 1							44.0	51.0	48.0					1																	32137238		1910	4119	6029	SO:0001583	missense	1307				cell adhesion|female pregnancy|integrin-mediated signaling pathway	collagen type XVI	integrin binding|structural molecule activity	g.chr1:32137238G>A	M92642	CCDS41297.1	1p35-p34	2013-01-16			ENSG00000084636	ENSG00000084636		"""Collagens"""	2193	protein-coding gene	gene with protein product		120326				1631157	Standard	NM_001856		Approved		uc001btk.1	Q07092	OTTHUMG00000003883	ENST00000373672.3:c.3128C>T	1.37:g.32137238G>A	ENSP00000362776:p.Ser1043Phe					COL16A1_ENST00000271069.6_Missense_Mutation_p.S1043F	p.S1043F	NM_001856.3	NP_001847.3	Q07092	COGA1_HUMAN		STAD - Stomach adenocarcinoma(196;0.059)	48	3644	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0423)|all_neural(195;0.0837)|Breast(348;0.116)	1043			Triple-helical region 2 (COL2) with 2 imperfections.		Q16593|Q59F89|Q71RG9	Missense_Mutation	SNP	ENST00000373672.3	37	c.3128C>T	CCDS41297.1	.	.	.	.	.	.	.	.	.	.	G	10.23	1.291905	0.23564	.	.	ENSG00000084636	ENST00000373672;ENST00000271069	D;D	0.93604	-3.21;-3.25	5.21	5.21	0.72293	.	0.422361	0.25961	N	0.027187	D	0.91848	0.7420	L	0.37850	1.14	0.37530	D	0.917862	P;P	0.46457	0.878;0.852	P;P	0.52881	0.712;0.702	D	0.89423	0.3711	10	0.09843	T	0.71	.	14.6242	0.68608	0.0:0.0:1.0:0.0	.	1043;1043	Q07092;Q07092-2	COGA1_HUMAN;.	F	1043	ENSP00000362776:S1043F;ENSP00000271069:S1043F	ENSP00000271069:S1043F	S	-	2	0	COL16A1	31909825	1.000000	0.71417	1.000000	0.80357	0.903000	0.53119	3.987000	0.56944	2.599000	0.87857	0.655000	0.94253	TCC		0.607	COL16A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000011057.2	NM_001856		15	29	0	0	0	1	0	15	29				
DIAPH3	81624	broad.mit.edu	37	13	60545113	60545113	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr13:60545113G>T	ENST00000400324.4	-	16	2052	c.1832C>A	c.(1831-1833)cCt>cAt	p.P611H	DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400330.1_Missense_Mutation_p.P611H|DIAPH3_ENST00000400320.1_Missense_Mutation_p.P565H|DIAPH3_ENST00000267215.4_Missense_Mutation_p.P611H|DIAPH3_ENST00000377908.2_Missense_Mutation_p.P600H|DIAPH3_ENST00000400319.1_Missense_Mutation_p.P541H	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN	diaphanous-related formin 3	611	FH1.|Pro-rich.				actin cytoskeleton organization (GO:0030036)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)		GBM - Glioblastoma multiforme(99;2.77e-05)		AGGTGGTGGAGGCACAGGACC	0.557																																						ENST00000400324.4																			0				cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(7)|liver(1)|lung(20)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(1831-1833)cCt>cAt		diaphanous-related formin 3							58.0	66.0	63.0					13																	60545113		1946	4142	6088	SO:0001583	missense	81624				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr13:60545113G>T	AL137718	CCDS41898.1, CCDS58294.1, CCDS58295.1, CCDS58296.1, CCDS58297.1, CCDS73579.1, CCDS73580.1	13q21.2	2013-05-24	2013-05-24		ENSG00000139734	ENSG00000139734			15480	protein-coding gene	gene with protein product		614567	"""diaphanous (Drosophila, homolog) 3"", ""auditory neuropathy, autosomal dominant 1"", ""diaphanous homolog 3 (Drosophila)"""	AUNA1		14767582, 20624953	Standard	NM_030932		Approved	DRF3, FLJ34705, AN, NSDAN	uc001vht.4	Q9NSV4	OTTHUMG00000017004	ENST00000400324.4:c.1832C>A	13.37:g.60545113G>T	ENSP00000383178:p.Pro611His					DIAPH3_ENST00000465066.1_5'UTR|DIAPH3_ENST00000400330.1_Missense_Mutation_p.P611H|DIAPH3_ENST00000400319.1_Missense_Mutation_p.P541H|DIAPH3_ENST00000400320.1_Missense_Mutation_p.P565H|DIAPH3_ENST00000377908.2_Missense_Mutation_p.P600H|DIAPH3_ENST00000267215.4_Missense_Mutation_p.P611H	p.P611H	NM_001042517.1|NM_001258366.1	NP_001035982.1|NP_001245295.1	Q9NSV4	DIAP3_HUMAN		GBM - Glioblastoma multiforme(99;2.77e-05)	16	2052	-		Breast(118;0.052)|Prostate(109;0.103)|Hepatocellular(98;0.132)	611			FH1.|Pro-rich.		A2A3B8|A2A3B9|A2A3C0|Q18P99|Q18PA0|Q18PA1|Q2KPB6|Q3ZK23|Q5JTP8|Q5T2S7|Q5XKF6|Q6MZF0|Q6NUP0|Q86VS4|Q8NAV4	Missense_Mutation	SNP	ENST00000400324.4	37	c.1832C>A	CCDS41898.1	.	.	.	.	.	.	.	.	.	.	G	19.64	3.864865	0.71949	.	.	ENSG00000139734	ENST00000400324;ENST00000400330;ENST00000400327;ENST00000413168;ENST00000400329;ENST00000377908;ENST00000400319;ENST00000400320;ENST00000267215;ENST00000267214;ENST00000453990	T;T;T;T;T;T	0.47528	0.84;0.84;0.84;0.84;0.84;0.84	5.27	5.27	0.74061	Actin-binding FH2 (1);	0.000000	0.85682	D	0.000000	T	0.70771	0.3262	M	0.77486	2.375	0.42055	D	0.991137	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.976;0.999;0.921	T	0.72401	-0.4305	10	0.46703	T	0.11	.	18.8814	0.92357	0.0:0.0:1.0:0.0	.	348;348;611	Q9NSV4-2;Q9NSV4-1;Q9NSV4	.;.;DIAP3_HUMAN	H	611;611;600;565;541;600;541;565;611;348;611	ENSP00000383178:P611H;ENSP00000383184:P611H;ENSP00000367141:P600H;ENSP00000383173:P541H;ENSP00000383174:P565H;ENSP00000267215:P611H	ENSP00000267214:P348H	P	-	2	0	DIAPH3	59443114	1.000000	0.71417	1.000000	0.80357	0.798000	0.45092	4.158000	0.58150	2.457000	0.83068	0.655000	0.94253	CCT		0.557	DIAPH3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000045166.3	NM_001042517		20	54	1	0	1.50039e-11	1	1.67498e-11	20	54				
CLIP3	25999	broad.mit.edu	37	19	36515441	36515441	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:36515441G>A	ENST00000360535.4	-	7	1002	c.775C>T	c.(775-777)Cgg>Tgg	p.R259W	AC002116.7_ENST00000586962.1_RNA|CLIP3_ENST00000593074.1_Missense_Mutation_p.R259W	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	CAP-GLY domain containing linker protein 3	259					chaperone-mediated protein transport (GO:0072321)|fat cell differentiation (GO:0045444)|membrane biogenesis (GO:0044091)|negative regulation of microtubule polymerization (GO:0031115)|peptidyl-L-cysteine S-palmitoylation (GO:0018230)|positive regulation of apoptotic process (GO:0043065)|positive regulation of endocytosis (GO:0045807)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of glucose transport (GO:0010828)|positive regulation of protein phosphorylation (GO:0001934)	early endosome membrane (GO:0031901)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|recycling endosome membrane (GO:0055038)|trans-Golgi network (GO:0005802)|trans-Golgi network membrane (GO:0032588)	ganglioside binding (GO:0035594)|microtubule binding (GO:0008017)			cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23	Esophageal squamous(110;0.162)		LUSC - Lung squamous cell carcinoma(66;0.06)			AGAAGCGTCCGCAGCTCCTTG	0.602																																						ENST00000360535.4																			0				cervix(1)|endometrium(6)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	23						c.(775-777)Cgg>Tgg		CAP-GLY domain containing linker protein 3							90.0	80.0	83.0					19																	36515441		2203	4300	6503	SO:0001583	missense	25999				chaperone-mediated protein transport|fat cell differentiation|membrane biogenesis|negative regulation of microtubule polymerization|peptidyl-L-cysteine S-palmitoylation|positive regulation of apoptosis|positive regulation of endocytosis|positive regulation of establishment of protein localization in plasma membrane|positive regulation of glucose transport|positive regulation of protein phosphorylation	early endosome membrane|Golgi stack|membrane raft|microsome|plasma membrane|recycling endosome membrane|trans-Golgi network membrane	ganglioside binding|microtubule binding	g.chr19:36515441G>A	AJ427922	CCDS12486.1	19q13.12	2014-08-12			ENSG00000105270	ENSG00000105270		"""Ankyrin repeat domain containing"""	24314	protein-coding gene	gene with protein product	"""CLIP-170-related"", ""restin-like 1"""	607382				11854307	Standard	NM_015526		Approved	CLIPR-59, RSNL1	uc002ocz.2	Q96DZ5	OTTHUMG00000181747	ENST00000360535.4:c.775C>T	19.37:g.36515441G>A	ENSP00000353732:p.Arg259Trp					AC002116.7_ENST00000586962.1_RNA|CLIP3_ENST00000593074.1_Missense_Mutation_p.R259W	p.R259W	NM_015526.2	NP_056341.1	Q96DZ5	CLIP3_HUMAN	LUSC - Lung squamous cell carcinoma(66;0.06)		7	1002	-	Esophageal squamous(110;0.162)		259					A8K0E4|Q8WWL1|Q96C99|Q9UFT7	Missense_Mutation	SNP	ENST00000360535.4	37	c.775C>T	CCDS12486.1	.	.	.	.	.	.	.	.	.	.	G	16.64	3.178483	0.57692	.	.	ENSG00000105270	ENST00000360535;ENST00000544037;ENST00000534959	T	0.73258	-0.73	5.88	3.56	0.40772	.	0.059735	0.64402	D	0.000007	T	0.61974	0.2390	L	0.34521	1.04	0.37790	D	0.927336	D	0.63880	0.993	B	0.44315	0.446	T	0.71377	-0.4611	10	0.87932	D	0	-3.9078	12.8822	0.58024	0.0:0.0:0.6218:0.3781	.	259	Q96DZ5	CLIP3_HUMAN	W	259;141;235	ENSP00000353732:R259W	ENSP00000353732:R259W	R	-	1	2	CLIP3	41207281	0.931000	0.31567	0.901000	0.35422	0.948000	0.59901	1.784000	0.38674	1.478000	0.48253	0.591000	0.81541	CGG		0.602	CLIP3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000457426.1	NM_015526		28	60	0	0	0	1	0	28	60				
SPTBN1	6711	broad.mit.edu	37	2	54891629	54891629	+	Missense_Mutation	SNP	G	G	A	rs549721411		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:54891629G>A	ENST00000356805.4	+	33	6741	c.6460G>A	c.(6460-6462)Gct>Act	p.A2154T	AC093110.3_ENST00000456363.1_RNA	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	spectrin, beta, non-erythrocytic 1	2154	Mediates interaction with CAMSAP1.				actin filament capping (GO:0051693)|axon guidance (GO:0007411)|Golgi to plasma membrane protein transport (GO:0043001)|membrane assembly (GO:0071709)|mitotic cytokinesis (GO:0000281)|plasma membrane organization (GO:0007009)|protein targeting to plasma membrane (GO:0072661)	axolemma (GO:0030673)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleolus (GO:0005730)|protein complex (GO:0043234)|spectrin (GO:0008091)|spectrin-associated cytoskeleton (GO:0014731)	actin binding (GO:0003779)|ankyrin binding (GO:0030506)|phospholipid binding (GO:0005543)|poly(A) RNA binding (GO:0044822)|structural constituent of cytoskeleton (GO:0005200)			NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82			Lung(47;0.24)			GGTCAACGGCGCTACAGAACA	0.592													G|||	1	0.000199681	0.0	0.0	5008	,	,		19026	0.0		0.0	False		,,,				2504	0.001					ENST00000356805.4																			0				NS(1)|breast(8)|central_nervous_system(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(11)|lung(27)|ovary(4)|prostate(2)|skin(5)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	82						c.(6460-6462)Gct>Act		spectrin, beta, non-erythrocytic 1							193.0	174.0	181.0					2																	54891629		2203	4300	6503	SO:0001583	missense	6711				actin filament capping|axon guidance	cytosol|nucleolus|plasma membrane|sarcomere|spectrin	actin binding|calmodulin binding|protein binding|structural constituent of cytoskeleton	g.chr2:54891629G>A		CCDS33198.1, CCDS33199.1	2p21	2013-01-10			ENSG00000115306	ENSG00000115306		"""Pleckstrin homology (PH) domain containing"""	11275	protein-coding gene	gene with protein product		182790					Standard	NM_003128		Approved		uc002rxu.3	Q01082	OTTHUMG00000133746	ENST00000356805.4:c.6460G>A	2.37:g.54891629G>A	ENSP00000349259:p.Ala2154Thr						p.A2154T	NM_003128.2	NP_003119.2	Q01082	SPTB2_HUMAN	Lung(47;0.24)		33	6741	+			2154					B2RP63|O60837|Q16057|Q53R99|Q59ER3|Q8IX99	Missense_Mutation	SNP	ENST00000356805.4	37	c.6460G>A	CCDS33198.1	.	.	.	.	.	.	.	.	.	.	G	11.46	1.644216	0.29246	.	.	ENSG00000115306	ENST00000356805	T	0.69926	-0.44	5.93	5.93	0.95920	.	0.445208	0.24187	N	0.040754	T	0.48840	0.1522	N	0.14661	0.345	0.80722	D	1	B;B	0.11235	0.004;0.001	B;B	0.06405	0.002;0.001	T	0.42666	-0.9438	10	0.14252	T	0.57	.	15.1109	0.72355	0.0:0.0:0.8586:0.1414	.	144;2154	B4DIF8;Q01082	.;SPTB2_HUMAN	T	2154	ENSP00000349259:A2154T	ENSP00000349259:A2154T	A	+	1	0	SPTBN1	54745133	1.000000	0.71417	0.993000	0.49108	0.954000	0.61252	6.636000	0.74299	2.826000	0.97356	0.655000	0.94253	GCT		0.592	SPTBN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000258115.3			5	285	0	0	0	1	0	5	285				
AMZ2P1	201283	broad.mit.edu	37	17	62964362	62964362	+	RNA	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:62964362C>T	ENST00000430983.1	-	0	1730					NR_026903.1				archaelysin family metallopeptidase 2 pseudogene 1																		AACAGTCAGGCATTTTATTAT	0.398																																						ENST00000430983.1																			0																																																			201283							g.chr17:62964362C>T	AK056627		17q24.1	2012-10-16	2010-04-08		ENSG00000214174	ENSG00000214174			26491	pseudogene	pseudogene							Standard	NR_026903		Approved	FLJ32065	uc002jfb.3		OTTHUMG00000132075		17.37:g.62964362C>T								NR_026903.1						0	1730	-									RNA	SNP	ENST00000430983.1	37																																																																																						0.398	AMZ2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000255102.1	NM_153032		22	46	0	0	0	1	0	22	46				
TTN	7273	broad.mit.edu	37	2	179441117	179441117	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:179441117G>A	ENST00000591111.1	-	276	65043	c.64819C>T	c.(64819-64821)Cat>Tat	p.H21607Y	TTN_ENST00000589042.1_Missense_Mutation_p.H23248Y|TTN-AS1_ENST00000419746.1_RNA|RP11-171I2.2_ENST00000603521.1_RNA|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.H20680Y|TTN-AS1_ENST00000456053.1_RNA|RP11-171I2.5_ENST00000604215.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN-AS1_ENST00000592689.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.H14375Y|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.H14183Y|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.H14308Y			Q8WZ42	TITIN_HUMAN	titin	21607	Fibronectin type-III 57. {ECO:0000255|PROSITE-ProRule:PRU00316}.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			TCAGTGACATGCGGATTTGAA	0.403																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(69742-69744)Cat>Tat		titin							56.0	52.0	54.0					2																	179441117		1887	4116	6003	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179441117G>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.64819C>T	2.37:g.179441117G>A	ENSP00000465570:p.His21607Tyr					TTN-AS1_ENST00000438095.1_RNA|TTN_ENST00000460472.2_Missense_Mutation_p.H14183Y|TTN-AS1_ENST00000592750.1_RNA|TTN-AS1_ENST00000419746.1_RNA|TTN-AS1_ENST00000456053.1_RNA|TTN_ENST00000342175.6_Missense_Mutation_p.H14375Y|TTN-AS1_ENST00000586452.1_RNA|TTN-AS1_ENST00000590807.1_RNA|TTN-AS1_ENST00000585451.1_RNA|TTN-AS1_ENST00000586831.1_RNA|TTN-AS1_ENST00000586707.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.H21607Y|TTN-AS1_ENST00000592600.1_RNA|TTN-AS1_ENST00000592630.1_RNA|TTN-AS1_ENST00000590932.1_RNA|TTN-AS1_ENST00000591332.1_RNA|TTN_ENST00000359218.5_Missense_Mutation_p.H14308Y|TTN_ENST00000342992.6_Missense_Mutation_p.H20680Y|TTN-AS1_ENST00000592689.1_RNA	p.H23248Y	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		326	69966	-			21607			Fibronectin type-III 68.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.69742C>T		.	.	.	.	.	.	.	.	.	.	G	0.861	-0.735336	0.03111	.	.	ENSG00000155657	ENST00000342992;ENST00000460472;ENST00000342175;ENST00000359218;ENST00000356127	T;T;T;T	0.58358	0.34;0.34;0.34;0.34	5.74	4.86	0.63082	Fibronectin, type III (4);Peptidase C2, calpain, large subunit, domain III (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.41534	0.1163	N	0.20986	0.625	0.09310	N	1	B;B;B;B	0.24576	0.106;0.106;0.106;0.065	B;B;B;B	0.28385	0.048;0.048;0.089;0.089	T	0.41395	-0.9511	9	0.87932	D	0	.	10.7482	0.46194	0.0:0.1167:0.6364:0.2469	.	14183;14308;14375;21607	D3DPF9;E7EQE6;E7ET18;Q8WZ42	.;.;.;TITIN_HUMAN	Y	20680;14183;14375;14308;14181	ENSP00000343764:H20680Y;ENSP00000434586:H14183Y;ENSP00000340554:H14375Y;ENSP00000352154:H14308Y	ENSP00000340554:H14375Y	H	-	1	0	TTN	179149363	0.635000	0.27199	0.046000	0.18839	0.165000	0.22458	3.112000	0.50368	1.409000	0.46915	0.563000	0.77884	CAT		0.403	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		17	22	0	0	0	1	0	17	22				
CD4	920	broad.mit.edu	37	12	6925525	6925525	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr12:6925525A>C	ENST00000011653.4	+	6	1169	c.911A>C	c.(910-912)aAa>aCa	p.K304T		NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN	CD4 molecule	304	Ig-like C2-type 2.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)|cytokine production (GO:0001816)|defense response to Gram-negative bacterium (GO:0050829)|entry into host cell (GO:0030260)|enzyme linked receptor protein signaling pathway (GO:0007167)|immune response (GO:0006955)|induction by virus of host cell-cell fusion (GO:0006948)|innate immune response (GO:0045087)|maintenance of protein location in cell (GO:0032507)|positive regulation of calcium-mediated signaling (GO:0050850)|positive regulation of interleukin-2 biosynthetic process (GO:0045086)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein kinase activity (GO:0045860)|protein palmitoleylation (GO:0045234)|regulation of defense response to virus by virus (GO:0050690)|regulation of T cell activation (GO:0050863)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)|T cell selection (GO:0045058)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)|viral process (GO:0016032)	early endosome (GO:0005769)|endoplasmic reticulum lumen (GO:0005788)|endoplasmic reticulum membrane (GO:0005789)|external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|membrane raft (GO:0045121)|plasma membrane (GO:0005886)|T cell receptor complex (GO:0042101)	coreceptor activity (GO:0015026)|enzyme binding (GO:0019899)|extracellular matrix structural constituent (GO:0005201)|glycoprotein binding (GO:0001948)|MHC class II protein binding (GO:0042289)|protein homodimerization activity (GO:0042803)|protein kinase binding (GO:0019901)|receptor activity (GO:0004872)|transmembrane signaling receptor activity (GO:0004888)|zinc ion binding (GO:0008270)			breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23		Myeloproliferative disorder(1001;0.0122)			Antithymocyte globulin(DB00098)	CTTGAAGCGAAAACAGGAAAG	0.622																																						ENST00000011653.4																			0				breast(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(3)|lung(7)|ovary(1)|prostate(1)	23						c.(910-912)aAa>aCa		CD4 molecule							43.0	35.0	38.0					12																	6925525		2203	4300	6503	SO:0001583	missense	920				cell adhesion|entry into host cell|immune response|induction by virus of host cell-cell fusion|initiation of viral infection|maintenance of protein location in cell|positive regulation of interleukin-2 biosynthetic process|positive regulation of protein kinase activity|protein palmitoleylation|regulation of defense response to virus by virus|T cell costimulation|T cell receptor signaling pathway|T cell selection|transmembrane receptor protein tyrosine kinase signaling pathway	early endosome|endoplasmic reticulum membrane|integral to membrane|T cell receptor complex	coreceptor activity|extracellular matrix structural constituent|glycoprotein binding|MHC class II protein binding|protein homodimerization activity|protein kinase binding|transmembrane receptor activity|zinc ion binding	g.chr12:6925525A>C	M35160	CCDS8562.1	12p13.31	2013-01-11	2006-03-28		ENSG00000010610	ENSG00000010610		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	1678	protein-coding gene	gene with protein product		186940	"""CD4 antigen (p55)"", ""T-cell surface glycoprotein CD4"""				Standard	NM_000616		Approved		uc001qqv.2	P01730	OTTHUMG00000168514	ENST00000011653.4:c.911A>C	12.37:g.6925525A>C	ENSP00000011653:p.Lys304Thr						p.K304T	NM_000616.4|NM_001195015.2|NM_001195016.2|NM_001195017.2	NP_000607.1|NP_001181944.1|NP_001181945.1|NP_001181946.1	P01730	CD4_HUMAN			6	1169	+		Myeloproliferative disorder(1001;0.0122)	304			Ig-like C2-type 2.		B2R737|D3DUS5|Q4ZGK2|Q5U066|Q9UDE5	Missense_Mutation	SNP	ENST00000011653.4	37	c.911A>C	CCDS8562.1	.	.	.	.	.	.	.	.	.	.	A	12.71	2.019729	0.35606	.	.	ENSG00000010610	ENST00000011653	T	0.29917	1.55	5.19	-5.48	0.02592	Immunoglobulin subtype (1);CD4, extracellular (1);Immunoglobulin-like fold (1);	0.929819	0.08595	U	0.922367	T	0.18215	0.0437	N	0.02011	-0.69	0.09310	N	1	B;P	0.45594	0.001;0.862	B;D	0.64042	0.027;0.921	T	0.11179	-1.0598	10	0.22706	T	0.39	.	3.4323	0.07433	0.5633:0.1859:0.102:0.1488	.	125;304	B0AZV7;P01730	.;CD4_HUMAN	T	304	ENSP00000011653:K304T	ENSP00000011653:K304T	K	+	2	0	CD4	6795786	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.206000	0.09398	-1.081000	0.03105	-0.406000	0.06334	AAA		0.622	CD4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399978.1	NM_000616		7	22	0	0	0	1	0	7	22				
CASR	846	broad.mit.edu	37	3	122003855	122003855	+	Silent	SNP	C	C	T	rs371038712		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr3:122003855C>T	ENST00000490131.1	+	7	3426	c.3054C>T	c.(3052-3054)tgC>tgT	p.C1018C	CASR_ENST00000498619.1_Silent_p.C1028C|CASR_ENST00000296154.5_Silent_p.C1018C	NM_000388.3	NP_000379	P41180	CASR_HUMAN	calcium-sensing receptor	1018					anatomical structure morphogenesis (GO:0009653)|calcium ion import (GO:0070509)|cellular calcium ion homeostasis (GO:0006874)|chemosensory behavior (GO:0007635)|detection of calcium ion (GO:0005513)|G-protein coupled receptor signaling pathway (GO:0007186)|metabolic process (GO:0008152)|ossification (GO:0001503)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|phosphatidylinositol phospholipase C activity (GO:0004435)			NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84				GBM - Glioblastoma multiforme(114;0.226)	Cinacalcet(DB01012)	CGCTGCAGTGCGGGGAAACGG	0.602																																						ENST00000498619.1																			0				NS(1)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(13)|lung(45)|ovary(4)|prostate(3)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						c.(3082-3084)tgC>tgT		calcium-sensing receptor	Cinacalcet(DB01012)	C	,	1,4405	2.1+/-5.4	0,1,2202	52.0	55.0	54.0		3054,3084	-4.8	0.0	3		54	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	CASR	NM_000388.3,NM_001178065.1	,	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	,	1018/1079,1028/1089	122003855	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	846				anatomical structure morphogenesis|calcium ion import|cellular calcium ion homeostasis|chemosensory behavior|detection of calcium ion|ossification	integral to plasma membrane	G-protein coupled receptor activity|phosphatidylinositol phospholipase C activity	g.chr3:122003855C>T	U20760	CCDS3010.1, CCDS54632.1	3q21.1	2012-08-29	2008-08-01		ENSG00000036828	ENSG00000036828		"""GPCR / Class C : Calcium-sensing receptors"""	1514	protein-coding gene	gene with protein product	"""severe neonatal hyperparathyroidism"""	601199	"""hypocalciuric hypercalcemia 1"""	HHC, HHC1		7677761	Standard	NM_000388		Approved	FHH, NSHPT, GPRC2A	uc003eew.4	P41180	OTTHUMG00000159491	ENST00000490131.1:c.3054C>T	3.37:g.122003855C>T						CASR_ENST00000296154.5_Silent_p.C1018C|CASR_ENST00000490131.1_Silent_p.C1018C	p.C1028C	NM_001178065.1	NP_001171536.1	P41180	CASR_HUMAN		GBM - Glioblastoma multiforme(114;0.226)	7	3522	+			1018					Q13912|Q16108|Q16109|Q16110|Q16379|Q2M1T0|Q4PJ19	Silent	SNP	ENST00000490131.1	37	c.3084C>T	CCDS3010.1																																																																																				0.602	CASR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000355761.1	NM_000388		26	42	0	0	0	1	0	26	42				
ACOT8	10005	broad.mit.edu	37	20	44472344	44472344	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr20:44472344C>G	ENST00000217455.4	-	5	753	c.663G>C	c.(661-663)aaG>aaC	p.K221N		NM_005469.3	NP_005460.2	O14734	ACOT8_HUMAN	acyl-CoA thioesterase 8	221					acyl-CoA metabolic process (GO:0006637)|alpha-linolenic acid metabolic process (GO:0036109)|bile acid biosynthetic process (GO:0006699)|bile acid metabolic process (GO:0008206)|cellular lipid metabolic process (GO:0044255)|dicarboxylic acid catabolic process (GO:0043649)|fatty acid beta-oxidation using acyl-CoA oxidase (GO:0033540)|peroxisome fission (GO:0016559)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid metabolic process (GO:0033559)|viral process (GO:0016032)	mitochondrion (GO:0005739)|peroxisomal matrix (GO:0005782)	acyl-CoA hydrolase activity (GO:0047617)|carboxylic ester hydrolase activity (GO:0052689)|choloyl-CoA hydrolase activity (GO:0033882)|medium-chain acyl-CoA hydrolase activity (GO:0052815)|palmitoyl-CoA hydrolase activity (GO:0016290)|receptor binding (GO:0005102)			kidney(2)|large_intestine(3)|lung(4)|skin(1)	10		Myeloproliferative disorder(115;0.0122)				AGCAGTGCATCTTCATGTCGC	0.612																																						ENST00000217455.4																			0				kidney(2)|large_intestine(3)|lung(4)|skin(1)	10						c.(661-663)aaG>aaC		acyl-CoA thioesterase 8							58.0	50.0	53.0					20																	44472344		2203	4300	6503	SO:0001583	missense	10005				bile acid biosynthetic process|fatty acid beta-oxidation using acyl-CoA oxidase|interspecies interaction between organisms|peroxisome organization	peroxisomal matrix	acetyl-CoA hydrolase activity|acyl-CoA thioesterase activity|carboxylesterase activity|choloyl-CoA hydrolase activity|protein binding	g.chr20:44472344C>G	AF014404	CCDS13378.1	20q13.12	2012-05-16	2005-09-19	2005-09-19	ENSG00000101473	ENSG00000101473	3.1.2.27	"""Acyl CoA thioesterases"""	15919	protein-coding gene	gene with protein product	"""choloyl-CoA hydrolase"""	608123	"""peroxisomal acyl-CoA thioesterase"", ""peroxisomal acyl-CoA thioesterase 1"""	PTE1		10092594, 9153233, 16103133, 16940157	Standard	NM_005469		Approved	hACTE-III, hTE, PTE-2	uc002xqa.2	O14734	OTTHUMG00000033045	ENST00000217455.4:c.663G>C	20.37:g.44472344C>G	ENSP00000217455:p.Lys221Asn						p.K221N	NM_005469.3	NP_005460.2	O14734	ACOT8_HUMAN			5	753	-		Myeloproliferative disorder(115;0.0122)	221					O15261|Q17RX4	Missense_Mutation	SNP	ENST00000217455.4	37	c.663G>C	CCDS13378.1	.	.	.	.	.	.	.	.	.	.	C	17.86	3.491576	0.64074	.	.	ENSG00000101473	ENST00000217455	.	.	.	5.03	5.03	0.67393	.	0.050262	0.85682	D	0.000000	T	0.48114	0.1482	L	0.35542	1.07	0.58432	D	0.999998	B;B	0.34103	0.274;0.437	B;B	0.34346	0.18;0.153	T	0.39121	-0.9629	9	0.17369	T	0.5	.	18.5723	0.91140	0.0:1.0:0.0:0.0	.	101;221	E9PRD4;O14734	.;ACOT8_HUMAN	N	221	.	ENSP00000217455:K221N	K	-	3	2	ACOT8	43905751	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	4.282000	0.58971	2.620000	0.88729	0.655000	0.94253	AAG		0.612	ACOT8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080338.2	NM_183386		29	57	0	0	0	1	0	29	57				
TMEM57	55219	broad.mit.edu	37	1	25824781	25824781	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:25824781A>G	ENST00000374343.4	+	11	1998	c.1819A>G	c.(1819-1821)Atc>Gtc	p.I607V	TMEM57_ENST00000399766.3_Missense_Mutation_p.I380V|TMEM57_ENST00000399763.3_Missense_Mutation_p.I249V	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN	transmembrane protein 57	607					brain development (GO:0007420)	axon (GO:0030424)|integral component of membrane (GO:0016021)|neuron projection terminus (GO:0044306)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|synapse (GO:0045202)				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)		AGATCAGGAAATCAAGGACCT	0.522																																						ENST00000374343.4																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(8)|lung(9)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	27						c.(1819-1821)Atc>Gtc		transmembrane protein 57							84.0	77.0	79.0					1																	25824781		2203	4300	6503	SO:0001583	missense	55219					axon|integral to membrane|neuron projection terminus|nuclear membrane|synapse part		g.chr1:25824781A>G	AK001609	CCDS30638.1, CCDS60034.1	1p36.11	2008-02-05			ENSG00000204178	ENSG00000204178			25572	protein-coding gene	gene with protein product		610301				12459264, 15255972	Standard	XM_005245931		Approved	FLJ10747	uc001bkk.3	Q8N5G2	OTTHUMG00000003473	ENST00000374343.4:c.1819A>G	1.37:g.25824781A>G	ENSP00000363463:p.Ile607Val					TMEM57_ENST00000399763.3_Missense_Mutation_p.I249V|TMEM57_ENST00000399766.3_Missense_Mutation_p.I380V	p.I607V	NM_018202.4	NP_060672.2	Q8N5G2	MACOI_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.042)|OV - Ovarian serous cystadenocarcinoma(117;1.85e-26)|Colorectal(126;2.99e-08)|COAD - Colon adenocarcinoma(152;1.7e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.000751)|STAD - Stomach adenocarcinoma(196;0.000766)|BRCA - Breast invasive adenocarcinoma(304;0.000986)|GBM - Glioblastoma multiforme(114;0.0191)|READ - Rectum adenocarcinoma(331;0.0649)	11	1998	+		Colorectal(325;0.000147)|Renal(390;0.00211)|Lung NSC(340;0.00715)|all_lung(284;0.00989)|Myeloproliferative disorder(586;0.0393)|Ovarian(437;0.051)|Breast(348;0.0675)|all_neural(195;0.201)	607					B1AK00|Q2TLX5|Q2TLX6|Q9NVG6	Missense_Mutation	SNP	ENST00000374343.4	37	c.1819A>G	CCDS30638.1	.	.	.	.	.	.	.	.	.	.	A	11.23	1.576086	0.28092	.	.	ENSG00000204178	ENST00000399766;ENST00000399763;ENST00000374343	D;D;D	0.82433	-1.61;-1.61;-1.61	5.48	5.48	0.80851	.	0.000000	0.85682	D	0.000000	T	0.78457	0.4286	L	0.43701	1.375	0.80722	D	1	B;P;B	0.38729	0.183;0.644;0.333	B;B;B	0.39660	0.057;0.141;0.306	T	0.75777	-0.3198	10	0.22109	T	0.4	-12.3271	14.7311	0.69383	1.0:0.0:0.0:0.0	.	249;380;607	Q8N5G2-2;Q8N5G2-3;Q8N5G2	.;.;MACOI_HUMAN	V	380;249;607	ENSP00000382668:I380V;ENSP00000382666:I249V;ENSP00000363463:I607V	ENSP00000363463:I607V	I	+	1	0	TMEM57	25697368	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	8.684000	0.91242	2.067000	0.61834	0.482000	0.46254	ATC		0.522	TMEM57-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009659.2	NM_018202		18	49	0	0	0	1	0	18	49				
UNC13C	440279	broad.mit.edu	37	15	54307541	54307541	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr15:54307541A>C	ENST00000260323.11	+	1	2441	c.2441A>C	c.(2440-2442)aAa>aCa	p.K814T	UNC13C_ENST00000537900.1_Missense_Mutation_p.K814T|UNC13C_ENST00000545554.1_Missense_Mutation_p.K814T	NM_001080534.1	NP_001074003.1	Q8NB66	UN13C_HUMAN	unc-13 homolog C (C. elegans)	814					exocytosis (GO:0006887)|intracellular signal transduction (GO:0035556)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|plasma membrane (GO:0005886)|presynaptic active zone (GO:0048786)	diacylglycerol binding (GO:0019992)|metal ion binding (GO:0046872)			breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121				GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)		GTATGGAACAAAAGCACACAG	0.423																																						ENST00000545554.1																			0				breast(3)|endometrium(5)|kidney(5)|large_intestine(20)|lung(70)|ovary(6)|pancreas(2)|prostate(2)|upper_aerodigestive_tract(4)|urinary_tract(4)	121						c.(2440-2442)aAa>aCa		unc-13 homolog C (C. elegans)							108.0	104.0	105.0					15																	54307541		1972	4143	6115	SO:0001583	missense	440279				exocytosis|intracellular signal transduction	cell junction|cytoplasm|presynaptic membrane	metal ion binding	g.chr15:54307541A>C	AK091491	CCDS45264.1	15q21.3	2012-10-02			ENSG00000137766	ENSG00000137766			23149	protein-coding gene	gene with protein product		614568					Standard	NM_001080534		Approved	Munc13-3, DKFZp547H074	uc021smr.1	Q8NB66	OTTHUMG00000172542	ENST00000260323.11:c.2441A>C	15.37:g.54307541A>C	ENSP00000260323:p.Lys814Thr					UNC13C_ENST00000537900.1_Missense_Mutation_p.K814T|UNC13C_ENST00000260323.11_Missense_Mutation_p.K814T	p.K814T			Q8NB66	UN13C_HUMAN		GBM - Glioblastoma multiforme(80;0.0789)|all cancers(107;0.124)	1	2441	+			814					Q0P613|Q8ND48|Q96NP3	Missense_Mutation	SNP	ENST00000260323.11	37	c.2441A>C	CCDS45264.1	.	.	.	.	.	.	.	.	.	.	A	13.69	2.311850	0.40895	.	.	ENSG00000137766	ENST00000260323;ENST00000545554;ENST00000537900	T;T;T	0.81415	-1.49;-1.49;-1.49	5.69	5.69	0.88448	.	.	.	.	.	T	0.73999	0.3659	L	0.29908	0.895	0.35144	D	0.769139	P	0.48407	0.91	B	0.42462	0.388	T	0.83017	-0.0169	9	0.72032	D	0.01	.	15.1202	0.72438	1.0:0.0:0.0:0.0	.	814	Q8NB66	UN13C_HUMAN	T	814	ENSP00000260323:K814T;ENSP00000438156:K814T;ENSP00000442569:K814T	ENSP00000260323:K814T	K	+	2	0	UNC13C	52094833	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	6.721000	0.74728	2.165000	0.68154	0.528000	0.53228	AAA		0.423	UNC13C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000419028.3	NM_173166		14	40	0	0	0	1	0	14	40				
REG1A	5967	broad.mit.edu	37	2	79350279	79350279	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:79350279C>A	ENST00000233735.1	+	6	542	c.439C>A	c.(439-441)Cag>Aag	p.Q147K		NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN	regenerating islet-derived 1 alpha	147	C-type lectin. {ECO:0000255|PROSITE- ProRule:PRU00040}.				positive regulation of cell proliferation (GO:0008284)	extracellular vesicular exosome (GO:0070062)	carbohydrate binding (GO:0030246)|growth factor activity (GO:0008083)			NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						TATAGGATTCCAGAAATGGAA	0.428																																						ENST00000233735.1																			0				NS(1)|breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(5)|lung(26)|prostate(1)|upper_aerodigestive_tract(1)	39						c.(439-441)Cag>Aag		regenerating islet-derived 1 alpha							84.0	84.0	84.0					2																	79350279		2203	4300	6503	SO:0001583	missense	5967				positive regulation of cell proliferation	extracellular region	growth factor activity|sugar binding	g.chr2:79350279C>A		CCDS1964.1	2p12	2008-09-04	2008-06-04		ENSG00000115386	ENSG00000115386			9951	protein-coding gene	gene with protein product	"""pancreatic stone protein"", ""pancreatic thread protein"""	167770	"""regenerating islet-derived 1 alpha (pancreatic stone protein, pancreatic thread protein)"""	REG		2332435, 8333731	Standard	NM_002909		Approved	PSP, PTP, PSPS, PSPS1	uc002snz.3	P05451	OTTHUMG00000130016	ENST00000233735.1:c.439C>A	2.37:g.79350279C>A	ENSP00000233735:p.Gln147Lys						p.Q147K	NM_002909.4	NP_002900.2	P05451	REG1A_HUMAN			6	542	+			147			C-type lectin.		P11379|Q4ZG28	Missense_Mutation	SNP	ENST00000233735.1	37	c.439C>A	CCDS1964.1	.	.	.	.	.	.	.	.	.	.	c	0.009	-1.843153	0.00568	.	.	ENSG00000115386	ENST00000233735	T	0.07444	3.19	3.11	-5.23	0.02798	C-type lectin fold (1);C-type lectin, conserved site (1);C-type lectin-like (1);C-type lectin (3);	1.376770	0.05592	N	0.574889	T	0.01730	0.0055	N	0.00602	-1.34	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.42498	-0.9448	10	0.02654	T	1	.	5.6972	0.17863	0.3596:0.5073:0.0:0.1332	.	147	P05451	REG1A_HUMAN	K	147	ENSP00000233735:Q147K	ENSP00000233735:Q147K	Q	+	1	0	REG1A	79203787	0.000000	0.05858	0.000000	0.03702	0.045000	0.14185	-0.831000	0.04405	-1.010000	0.03396	-1.655000	0.00754	CAG		0.428	REG1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252289.1	NM_002909		19	31	1	0	1.40151e-16	1	1.64852e-16	19	31				
RUNX1T1	862	broad.mit.edu	37	8	92998496	92998496	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr8:92998496T>A	ENST00000523629.1	-	9	1589	c.1135A>T	c.(1135-1137)Agg>Tgg	p.R379W	RUNX1T1_ENST00000396218.1_Missense_Mutation_p.R352W|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.R342W|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.R379W|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.R390W|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.R352W|RUNX1T1_ENST00000422361.2_Missense_Mutation_p.R342W|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.R342W	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)	379	Important for oligomerization.				fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			TGACACCGCCTTAGTACGGTG	0.473																																						ENST00000523629.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86						c.(1135-1137)Agg>Tgg		runt-related transcription factor 1; translocated to, 1 (cyclin D-related)							134.0	133.0	133.0					8																	92998496		2203	4300	6503	SO:0001583	missense	862				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:92998496T>A	D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"""Zinc fingers, MYND-type"""	1535	protein-coding gene	gene with protein product		133435	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"""	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.1135A>T	8.37:g.92998496T>A	ENSP00000428543:p.Arg379Trp					RUNX1T1_ENST00000422361.2_Missense_Mutation_p.R342W|RUNX1T1_ENST00000436581.2_Missense_Mutation_p.R390W|RUNX1T1_ENST00000396218.1_Missense_Mutation_p.R352W|RUNX1T1_ENST00000360348.2_Missense_Mutation_p.R342W|RUNX1T1_ENST00000265814.3_Missense_Mutation_p.R379W|RUNX1T1_ENST00000520724.1_Missense_Mutation_p.R342W|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.R352W	p.R379W	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0141)		9	1589	-			379			Important for oligomerization.		B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Missense_Mutation	SNP	ENST00000523629.1	37	c.1135A>T	CCDS6256.1	.	.	.	.	.	.	.	.	.	.	T	25.7	4.666451	0.88251	.	.	ENSG00000079102	ENST00000523629;ENST00000396218;ENST00000265814;ENST00000360348;ENST00000422361;ENST00000520724;ENST00000436581;ENST00000518844	T;T;T;T;T;T;T;T	0.56103	0.48;0.48;0.48;0.48;0.48;0.48;0.48;0.48	5.67	1.59	0.23543	NHR2-like (1);	0.000000	0.85682	D	0.000000	T	0.68696	0.3029	M	0.65975	2.015	0.80722	D	1	D;D;D	0.89917	0.999;1.0;1.0	D;D;D	0.87578	0.986;0.998;0.997	T	0.72587	-0.4248	10	0.87932	D	0	-15.7576	14.6365	0.68694	0.0:0.0:0.5387:0.4612	.	390;379;352	E7EPN4;Q06455;Q06455-2	.;MTG8_HUMAN;.	W	379;352;379;342;342;342;390;352	ENSP00000428543:R379W;ENSP00000379520:R352W;ENSP00000265814:R379W;ENSP00000353504:R342W;ENSP00000390137:R342W;ENSP00000428742:R342W;ENSP00000402257:R390W;ENSP00000430728:R352W	ENSP00000265814:R379W	R	-	1	2	RUNX1T1	93067672	0.974000	0.33945	0.826000	0.32828	0.997000	0.91878	1.557000	0.36299	0.404000	0.25506	0.533000	0.62120	AGG		0.473	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635		27	69	0	0	0	1	0	27	69				
B4GALT7	11285	broad.mit.edu	37	5	177031391	177031391	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr5:177031391G>A	ENST00000029410.5	+	2	373	c.262G>A	c.(262-264)Gca>Aca	p.A88T		NM_007255.2	NP_009186.1	Q9UBV7	B4GT7_HUMAN	xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7	88					carbohydrate metabolic process (GO:0005975)|cellular protein modification process (GO:0006464)|chondroitin sulfate metabolic process (GO:0030204)|extracellular fibril organization (GO:0043206)|glycosaminoglycan biosynthetic process (GO:0006024)|glycosaminoglycan metabolic process (GO:0030203)|negative regulation of fibroblast proliferation (GO:0048147)|protein N-linked glycosylation (GO:0006487)|proteoglycan metabolic process (GO:0006029)|small molecule metabolic process (GO:0044281)	Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)	beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|galactosyltransferase activity (GO:0008378)|manganese ion binding (GO:0030145)|xylosylprotein 4-beta-galactosyltransferase activity (GO:0046525)			endometrium(2)|large_intestine(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	7	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GGAAGAAGACGCATCCTGGGG	0.711																																						ENST00000029410.5																			0				endometrium(2)|large_intestine(1)|lung(1)|pancreas(1)|skin(1)|urinary_tract(1)	7						c.(262-264)Gca>Aca		xylosylprotein beta 1,4-galactosyltransferase, polypeptide 7							22.0	23.0	23.0					5																	177031391		2202	4299	6501	SO:0001583	missense	11285				fibril organization|glycosaminoglycan biosynthetic process|negative regulation of fibroblast proliferation|protein modification process|proteoglycan metabolic process	Golgi cisterna membrane|integral to membrane	metal ion binding|xylosylprotein 4-beta-galactosyltransferase activity	g.chr5:177031391G>A	AB028600	CCDS4429.1	5q35.1-q35.3	2013-02-19	2012-07-18		ENSG00000027847	ENSG00000027847		"""Beta 4-glycosyltransferases"""	930	protein-coding gene	gene with protein product	"""galactosyltransferase I"""	604327				10438455, 10473568	Standard	NM_007255		Approved	XGALT-1, beta4Gal-T7	uc003mhy.3	Q9UBV7	OTTHUMG00000130851	ENST00000029410.5:c.262G>A	5.37:g.177031391G>A	ENSP00000029410:p.Ala88Thr						p.A88T	NM_007255.2	NP_009186.1	Q9UBV7	B4GT7_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	373	+	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	88					B3KN39|Q9UHN2	Missense_Mutation	SNP	ENST00000029410.5	37	c.262G>A	CCDS4429.1	.	.	.	.	.	.	.	.	.	.	G	10.37	1.331954	0.24167	.	.	ENSG00000027847	ENST00000029410;ENST00000507061	T;T	0.34472	1.36;1.36	4.58	-1.32	0.09201	.	0.543788	0.19681	N	0.108507	T	0.22085	0.0532	N	0.22421	0.69	0.09310	N	1	B	0.20780	0.048	B	0.21917	0.037	T	0.19289	-1.0310	10	0.33141	T	0.24	0.1997	11.769	0.51947	0.087:0.6686:0.2444:0.0	.	88	Q9UBV7	B4GT7_HUMAN	T	88;27	ENSP00000029410:A88T;ENSP00000423868:A27T	ENSP00000029410:A88T	A	+	1	0	B4GALT7	176963997	0.001000	0.12720	0.000000	0.03702	0.610000	0.37248	1.154000	0.31688	-0.167000	0.10871	-0.272000	0.10252	GCA		0.711	B4GALT7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253421.1	NM_007255		12	25	0	0	0	1	0	12	25				
LMNTD2	256329	broad.mit.edu	37	11	556881	556881	+	Silent	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:556881G>A	ENST00000329451.3	-	8	992	c.930C>T	c.(928-930)tcC>tcT	p.S310S	RP11-496I9.1_ENST00000527620.1_RNA|RP11-496I9.1_ENST00000527113.1_RNA	NM_173573.2	NP_775844.2	Q8IXW0	LMTD2_HUMAN		310										NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1)	8		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)		GCGCTTGCTCGGAGGAAGCGC	0.701																																						ENST00000329451.3																			0				NS(1)|breast(1)|central_nervous_system(1)|lung(4)|pancreas(1)	8						c.(928-930)tcC>tcT		chromosome 11 open reading frame 35							12.0	15.0	14.0					11																	556881		2181	4288	6469	SO:0001819	synonymous_variant	256329							g.chr11:556881G>A																												ENST00000329451.3:c.930C>T	11.37:g.556881G>A							p.S310S	NM_173573.2	NP_775844.2	Q8IXW0	CK035_HUMAN		all cancers(45;7.18e-28)|Epithelial(43;6.93e-27)|OV - Ovarian serous cystadenocarcinoma(40;6.97e-21)|BRCA - Breast invasive adenocarcinoma(625;3.56e-05)|Lung(200;0.0375)|LUSC - Lung squamous cell carcinoma(625;0.0703)	8	992	-		all_cancers(49;2.16e-06)|all_epithelial(84;0.000256)|Breast(177;0.00122)|Ovarian(85;0.0228)|Medulloblastoma(188;0.0321)|all_neural(188;0.0762)	310						Silent	SNP	ENST00000329451.3	37	c.930C>T	CCDS7701.1																																																																																				0.701	C11orf35-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254973.2			7	13	0	0	0	1	0	7	13				
USP20	10868	broad.mit.edu	37	9	132630581	132630581	+	Missense_Mutation	SNP	C	C	A	rs373800274		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr9:132630581C>A	ENST00000315480.4	+	11	1146	c.988C>A	c.(988-990)Cgc>Agc	p.R330S	USP20_ENST00000372429.3_Missense_Mutation_p.R330S|USP20_ENST00000358355.1_Missense_Mutation_p.R330S			Q9Y2K6	UBP20_HUMAN	ubiquitin specific peptidase 20	330	USP.				endocytosis (GO:0006897)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|protein K63-linked deubiquitination (GO:0070536)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|ubiquitin-dependent protein catabolic process (GO:0006511)	centrosome (GO:0005813)|cytoplasm (GO:0005737)	cysteine-type endopeptidase activity (GO:0004197)|G-protein coupled receptor binding (GO:0001664)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11		Ovarian(14;0.00556)				GATGAAGGACCGCAAGTTCTC	0.667																																						ENST00000315480.4																			0				breast(1)|endometrium(2)|large_intestine(3)|lung(4)|urinary_tract(1)	11						c.(988-990)Cgc>Agc		ubiquitin specific peptidase 20							43.0	52.0	49.0					9																	132630581		2146	4236	6382	SO:0001583	missense	10868				endocytosis|protein K48-linked deubiquitination|protein K63-linked deubiquitination|regulation of G-protein coupled receptor protein signaling pathway|ubiquitin-dependent protein catabolic process	perinuclear region of cytoplasm	cysteine-type endopeptidase activity|G-protein-coupled receptor binding|ubiquitin thiolesterase activity|zinc ion binding	g.chr9:132630581C>A	AB023220	CCDS43892.1	9q34.2	2014-07-15	2005-08-08		ENSG00000136878	ENSG00000136878		"""Ubiquitin-specific peptidases"""	12619	protein-coding gene	gene with protein product		615143	"""ubiquitin specific protease 20"""			12838346	Standard	NM_006676		Approved	KIAA1003	uc004byr.3	Q9Y2K6	OTTHUMG00000020793	ENST00000315480.4:c.988C>A	9.37:g.132630581C>A	ENSP00000313811:p.Arg330Ser					USP20_ENST00000372429.3_Missense_Mutation_p.R330S|USP20_ENST00000358355.1_Missense_Mutation_p.R330S	p.R330S			Q9Y2K6	UBP20_HUMAN			11	1146	+		Ovarian(14;0.00556)	330					Q541F1|Q8IXQ1|Q96LG5|Q9UQN8|Q9UQP0	Missense_Mutation	SNP	ENST00000315480.4	37	c.988C>A	CCDS43892.1	.	.	.	.	.	.	.	.	.	.	C	24.1	4.494482	0.85069	.	.	ENSG00000136878	ENST00000372429;ENST00000315480;ENST00000358355	T;T;T	0.17528	2.27;2.27;2.27	5.39	4.41	0.53225	Peptidase C19, ubiquitin carboxyl-terminal hydrolase 2 (2);	2.002740	0.01770	N	0.031110	T	0.23451	0.0567	L	0.39020	1.185	0.58432	D	0.999994	P	0.52842	0.956	P	0.48704	0.587	T	0.19910	-1.0291	10	0.25751	T	0.34	.	10.5069	0.44839	0.3823:0.6177:0.0:0.0	.	330	Q9Y2K6	UBP20_HUMAN	S	330	ENSP00000361506:R330S;ENSP00000313811:R330S;ENSP00000351122:R330S	ENSP00000313811:R330S	R	+	1	0	USP20	131670402	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	2.991000	0.49409	2.517000	0.84864	0.561000	0.74099	CGC		0.667	USP20-003	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054604.2			25	92	1	0	7.33532e-06	1	7.73864e-06	25	92				
CRTAM	56253	broad.mit.edu	37	11	122726431	122726431	+	Silent	SNP	T	T	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:122726431T>C	ENST00000227348.4	+	5	566	c.519T>C	c.(517-519)gaT>gaC	p.D173D		NM_019604.2	NP_062550.2			cytotoxic and regulatory T cell molecule											breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	19		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)		TTGAAACTGATGGGAAGAAAT	0.423																																						ENST00000227348.4																			0				breast(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|pancreas(1)|prostate(1)	19						c.(517-519)gaT>gaC		cytotoxic and regulatory T cell molecule							108.0	104.0	106.0					11																	122726431		2202	4299	6501	SO:0001819	synonymous_variant	56253				cell recognition|detection of tumor cell|positive regulation of cytokine secretion|positive regulation of natural killer cell mediated cytotoxicity directed against tumor cell target	integral to membrane|plasma membrane	receptor binding	g.chr11:122726431T>C	AF001622	CCDS8437.1	11q24.1	2013-01-11			ENSG00000109943	ENSG00000109943		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"""	24313	protein-coding gene	gene with protein product	"""class I MHC restricted T cell associated molecule"""	612597				10811014, 16300832	Standard	NM_019604		Approved	CD355	uc001pyj.3	O95727	OTTHUMG00000166026	ENST00000227348.4:c.519T>C	11.37:g.122726431T>C							p.D173D	NM_019604.2	NP_062550.2	O95727	CRTAM_HUMAN		BRCA - Breast invasive adenocarcinoma(274;5.28e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0308)	5	566	+		Breast(109;0.00249)|Lung NSC(97;0.0177)|all_lung(97;0.0179)|Medulloblastoma(222;0.0425)|all_neural(223;0.112)	173		D -> G (in dbSNP:rs35136295).	Ig-like C2-type.			Silent	SNP	ENST00000227348.4	37	c.519T>C	CCDS8437.1																																																																																				0.423	CRTAM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387507.1	NM_019604		24	60	0	0	0	1	0	24	60				
HDAC4	9759	broad.mit.edu	37	2	239975189	239975189	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:239975189G>A	ENST00000345617.3	-	26	3973	c.3182C>T	c.(3181-3183)tCg>tTg	p.S1061L	HDAC4_ENST00000543185.1_Missense_Mutation_p.S645L	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	1061	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		CACGGACAGCGAGGCCATGGC	0.657																																						ENST00000345617.3																			0				NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62						c.(3181-3183)tCg>tTg		histone deacetylase 4							46.0	54.0	51.0					2																	239975189		2203	4300	6503	SO:0001583	missense	9759				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding	g.chr2:239975189G>A	AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024			14063	protein-coding gene	gene with protein product		605314	"""brachydactyly-mental retardation syndrome"""	BDMR		10206986, 10220385, 20691407	Standard	NM_006037		Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.3182C>T	2.37:g.239975189G>A	ENSP00000264606:p.Ser1061Leu					HDAC4_ENST00000543185.1_Missense_Mutation_p.S645L	p.S1061L	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)	26	3973	-		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)	1061			Histone deacetylase.		Q9UND6	Missense_Mutation	SNP	ENST00000345617.3	37	c.3182C>T	CCDS2529.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	G|G	22.6|22.6	4.311054|4.311054	0.81358|0.81358	.|.	.|.	ENSG00000068024|ENSG00000068024	ENST00000430200|ENST00000345617;ENST00000456922;ENST00000543185	.|T;T	.|0.68765	.|0.04;-0.35	4.57|4.57	4.57|4.57	0.56435|0.56435	.|.	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.67961|0.67961	0.2949|0.2949	L|L	0.59436|0.59436	1.845|1.845	0.58432|0.58432	D|D	0.999999|0.999999	.|D;P	.|0.55605	.|0.972;0.938	.|P;B	.|0.47470	.|0.548;0.426	T|T	0.68712|0.68712	-0.5336|-0.5336	5|10	.|0.33940	.|T	.|0.23	.|.	15.9316|15.9316	0.79663|0.79663	0.0:0.0:1.0:0.0|0.0:0.0:1.0:0.0	.|.	.|1029;1061	.|Q53SM2;P56524	.|.;HDAC4_HUMAN	C|L	152|1061;949;645	.|ENSP00000264606:S1061L;ENSP00000440481:S645L	.|ENSP00000264606:S1061L	R|S	-|-	1|2	0|0	HDAC4|HDAC4	239640126|239640126	1.000000|1.000000	0.71417|0.71417	0.977000|0.977000	0.42913|0.42913	0.738000|0.738000	0.42128|0.42128	8.313000|8.313000	0.89978|0.89978	2.254000|2.254000	0.74563|0.74563	0.650000|0.650000	0.86243|0.86243	CGC|TCG		0.657	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257174.2	NM_006037		28	65	0	0	0	1	0	28	65				
CTTN	2017	broad.mit.edu	37	11	70271437	70271437	+	Splice_Site	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:70271437G>A	ENST00000301843.8	+	13	1163		c.e13-1		CTTN_ENST00000538675.1_Splice_Site|CTTN_ENST00000346329.3_Splice_Site|CTTN_ENST00000376561.3_Splice_Site	NM_005231.3	NP_005222.2	Q14247	SRC8_HUMAN	cortactin						negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)	cell cortex (GO:0005938)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|mitotic spindle midzone (GO:1990023)|ruffle (GO:0001726)				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31			BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)		TGTCTCTGCAGAATGCGTCAA	0.552																																						ENST00000301843.8																			0				breast(2)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|skin(1)|urinary_tract(1)	31						c.e13-1		cortactin							126.0	100.0	109.0					11																	70271437		2200	4294	6494	SO:0001630	splice_region_variant	2017					cell cortex|cytoskeleton|lamellipodium|ruffle|soluble fraction	protein binding	g.chr11:70271437G>A	AJ288897	CCDS8197.1, CCDS41680.1, CCDS53676.1	11q13	2008-02-05	2004-06-08	2004-06-09	ENSG00000085733	ENSG00000085733			3338	protein-coding gene	gene with protein product		164765	"""ems1 sequence (mammary tumor and squamous cell carcinoma-associated (p80/85 src substrate)"""	EMS1		7685625	Standard	NM_005231		Approved		uc001opu.3	Q14247	OTTHUMG00000134307	ENST00000301843.8:c.958-1G>A	11.37:g.70271437G>A						CTTN_ENST00000538675.1_Splice_Site|CTTN_ENST00000376561.3_Splice_Site|CTTN_ENST00000346329.3_Splice_Site		NM_005231.3	NP_005222.2	Q14247	SRC8_HUMAN	BRCA - Breast invasive adenocarcinoma(2;4.34e-41)|LUSC - Lung squamous cell carcinoma(11;1.51e-13)|STAD - Stomach adenocarcinoma(18;0.0513)	Lung(977;0.0234)|LUSC - Lung squamous cell carcinoma(976;0.133)	13	1163	+								Q8N707|Q96H99	Splice_Site	SNP	ENST00000301843.8	37		CCDS41680.1	.	.	.	.	.	.	.	.	.	.	g	9.974	1.226389	0.22542	.	.	ENSG00000085733	ENST00000346329;ENST00000301843;ENST00000376561;ENST00000527962;ENST00000498223;ENST00000538675	.	.	.	5.11	4.18	0.49190	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	14.6114	0.68519	0.0743:0.0:0.9257:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	CTTN	69949085	1.000000	0.71417	0.991000	0.47740	0.041000	0.13682	7.180000	0.77674	2.554000	0.86153	0.586000	0.80456	.		0.552	CTTN-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000259233.2	NM_138565	Intron	7	14	0	0	0	1	0	7	14				
PSMC5	5705	broad.mit.edu	37	17	61908487	61908487	+	Silent	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:61908487G>A	ENST00000310144.6	+	8	1079	c.771G>A	c.(769-771)tcG>tcA	p.S257S	FTSJ3_ENST00000580295.1_5'Flank|PSMC5_ENST00000375812.4_Silent_p.S249S|PSMC5_ENST00000581882.1_Silent_p.S249S|PSMC5_ENST00000580864.1_Silent_p.S249S	NM_002805.5	NP_002796.4	P62195	PRS8_HUMAN	proteasome (prosome, macropain) 26S subunit, ATPase, 5	257	May mediate interaction with PRPF9. {ECO:0000250|UniProtKB:P62196}.				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031145)|antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|apoptotic process (GO:0006915)|cellular nitrogen compound metabolic process (GO:0034641)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|G1/S transition of mitotic cell cycle (GO:0000082)|gene expression (GO:0010467)|mitotic cell cycle (GO:0000278)|mRNA metabolic process (GO:0016071)|negative regulation of apoptotic process (GO:0043066)|negative regulation of programmed cell death (GO:0043069)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051436)|positive regulation of inclusion body assembly (GO:0090261)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051437)|proteasome-mediated ubiquitin-dependent protein catabolic process (GO:0043161)|protein polyubiquitination (GO:0000209)|regulation of apoptotic process (GO:0042981)|regulation of cellular amino acid metabolic process (GO:0006521)|regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle (GO:0051439)|RNA metabolic process (GO:0016070)|small molecule metabolic process (GO:0044281)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|cytosolic proteasome complex (GO:0031597)|extracellular vesicular exosome (GO:0070062)|inclusion body (GO:0016234)|membrane (GO:0016020)|nuclear proteasome complex (GO:0031595)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|proteasome accessory complex (GO:0022624)|proteasome complex (GO:0000502)|proteasome regulatory particle (GO:0005838)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|thyrotropin-releasing hormone receptor binding (GO:0031531)|transcription cofactor activity (GO:0003712)|transcription factor binding (GO:0008134)			endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	20						TCGGCTCCTCGCGGCTGGAGG	0.572																																						ENST00000310144.6																			0				endometrium(3)|kidney(2)|large_intestine(8)|lung(3)|ovary(2)|prostate(1)|upper_aerodigestive_tract(1)	20						c.(769-771)tcG>tcA		proteasome (prosome, macropain) 26S subunit, ATPase, 5							78.0	84.0	82.0					17																	61908487		2203	4300	6503	SO:0001819	synonymous_variant	5705				anaphase-promoting complex-dependent proteasomal ubiquitin-dependent protein catabolic process|apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|G1/S transition of mitotic cell cycle|M/G1 transition of mitotic cell cycle|mRNA metabolic process|negative regulation of programmed cell death|negative regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|positive regulation of transcription, DNA-dependent|positive regulation of ubiquitin-protein ligase activity involved in mitotic cell cycle|regulation of apoptosis|regulation of cellular amino acid metabolic process|S phase of mitotic cell cycle|transcription from RNA polymerase II promoter|viral reproduction	cytoplasm|nucleus|proteasome complex	ATP binding|ATPase activity|thyrotropin-releasing hormone receptor binding|transcription cofactor activity|transcription factor binding	g.chr17:61908487G>A	L38810	CCDS11645.1, CCDS56043.1	17q23.3	2010-04-21			ENSG00000087191	ENSG00000087191		"""Proteasome (prosome, macropain) subunits"", ""ATPases / AAA-type"""	9552	protein-coding gene	gene with protein product		601681				9473509, 9048938	Standard	NM_002805		Approved	SUG1, p45/SUG, TBP10, p45, S8, TRIP1, SUG-1	uc002jcb.3	P62195		ENST00000310144.6:c.771G>A	17.37:g.61908487G>A						PSMC5_ENST00000580864.1_Silent_p.S249S|PSMC5_ENST00000581882.1_Silent_p.S249S|PSMC5_ENST00000375812.4_Silent_p.S249S	p.S257S	NM_002805.5	NP_002796.4	P62195	PRS8_HUMAN			8	1079	+			257					A8K3Z3|A8K763|O35051|O43208|P47210|P52915|P52916	Silent	SNP	ENST00000310144.6	37	c.771G>A	CCDS11645.1																																																																																				0.572	PSMC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444404.1	NM_002805		38	96	0	0	0	1	0	38	96				
MPHOSPH8	54737	broad.mit.edu	37	13	20244461	20244461	+	Missense_Mutation	SNP	A	A	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr13:20244461A>C	ENST00000361479.5	+	12	2483	c.2415A>C	c.(2413-2415)caA>caC	p.Q805H	MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.Q805H	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN	M-phase phosphoprotein 8	805					negative regulation of transcription, DNA-templated (GO:0045892)|regulation of DNA methylation (GO:0044030)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear heterochromatin (GO:0005720)|nuclear nucleosome (GO:0000788)|nucleolus (GO:0005730)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	methylated histone binding (GO:0035064)			breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)		GTAGTGTACAAGCTGTAGTTC	0.388																																						ENST00000361479.5																			0				breast(2)|endometrium(1)|large_intestine(2)|lung(8)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	16						c.(2413-2415)caA>caC		M-phase phosphoprotein 8							191.0	175.0	180.0					13																	20244461		2203	4300	6503	SO:0001583	missense	54737				cell cycle	cytoplasm|nucleus		g.chr13:20244461A>C	AK056785, AJ293409	CCDS9287.1	13q12.11	2013-01-10			ENSG00000196199	ENSG00000196199		"""Ankyrin repeat domain containing"""	29810	protein-coding gene	gene with protein product		611626				8885239	Standard	NM_017520		Approved	mpp8, HSMPP8	uc001umh.3	Q99549	OTTHUMG00000016498	ENST00000361479.5:c.2415A>C	13.37:g.20244461A>C	ENSP00000355388:p.Gln805His					MPHOSPH8_ENST00000414242.2_Missense_Mutation_p.Q805H	p.Q805H	NM_017520.3	NP_059990.2	Q99549	MPP8_HUMAN		all cancers(112;8.43e-05)|Epithelial(112;0.000426)|OV - Ovarian serous cystadenocarcinoma(117;0.00596)|Lung(94;0.015)|LUSC - Lung squamous cell carcinoma(192;0.0795)	12	2483	+		all_cancers(29;2.83e-16)|all_lung(29;1.16e-17)|all_epithelial(30;8.13e-16)|Lung NSC(5;6.91e-15)|Lung SC(185;0.0367)	805					B7Z6F9|Q5JPE5|Q5JTQ0|Q86TK3|Q96MK4|Q9BTP1	Missense_Mutation	SNP	ENST00000361479.5	37	c.2415A>C	CCDS9287.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	13.14|13.14	2.147239|2.147239	0.37923|0.37923	.|.	.|.	ENSG00000196199|ENSG00000196199	ENST00000449056|ENST00000414242;ENST00000360754;ENST00000361479	.|T;T	.|0.35236	.|1.32;1.34	5.63|5.63	3.13|3.13	0.36017|0.36017	.|.	.|0.116720	.|0.64402	.|N	.|0.000012	T|T	0.17066|0.17066	0.0410|0.0410	N|N	0.03608|0.03608	-0.345|-0.345	0.34350|0.34350	D|D	0.689755|0.689755	.|B;B	.|0.24186	.|0.022;0.099	.|B;B	.|0.26202	.|0.018;0.067	T|T	0.12372|0.12372	-1.0550|-1.0550	5|10	.|0.87932	.|D	.|0	.|.	8.3511|8.3511	0.32303|0.32303	0.7983:0.1331:0.0686:0.0|0.7983:0.1331:0.0686:0.0	.|.	.|805;805	.|Q99549;Q99549-2	.|MPP8_HUMAN;.	T|H	76|805;134;805	.|ENSP00000414663:Q805H;ENSP00000355388:Q805H	.|ENSP00000353982:Q134H	K|Q	+|+	2|3	0|2	MPHOSPH8|MPHOSPH8	19142461|19142461	1.000000|1.000000	0.71417|0.71417	0.998000|0.998000	0.56505|0.56505	0.918000|0.918000	0.54935|0.54935	1.619000|1.619000	0.36965|0.36965	0.389000|0.389000	0.25086|0.25086	0.529000|0.529000	0.55759|0.55759	AAG|CAA		0.388	MPHOSPH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044028.2	NM_017520		32	64	0	0	0	1	0	32	64				
TTLL10	254173	broad.mit.edu	37	1	1118413	1118413	+	Silent	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:1118413G>A	ENST00000379290.1	+	11	1247	c.1074G>A	c.(1072-1074)gcG>gcA	p.A358A	TTLL10_ENST00000379288.3_Silent_p.A285A|TTLL10_ENST00000379289.1_Silent_p.A358A			Q6ZVT0	TTL10_HUMAN	tubulin tyrosine ligase-like family, member 10	358	TTL. {ECO:0000255|PROSITE- ProRule:PRU00568}.				cellular protein modification process (GO:0006464)					haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)		GGCCTCAGGCGCGGGTGGTGC	0.726																																						ENST00000379290.1																			0				haematopoietic_and_lymphoid_tissue(3)|large_intestine(1)|lung(2)|skin(1)	7						c.(1072-1074)gcG>gcA		tubulin tyrosine ligase-like family, member 10							15.0	14.0	14.0					1																	1118413		2185	4290	6475	SO:0001819	synonymous_variant	254173				protein modification process		ATP binding|tubulin-tyrosine ligase activity	g.chr1:1118413G>A	AK093438	CCDS8.1, CCDS44036.1	1p36.33	2014-01-28	2005-07-29	2005-07-29	ENSG00000162571	ENSG00000162571		"""Tubulin tyrosine ligase-like family"""	26693	protein-coding gene	gene with protein product			"""tubulin tyrosine ligase-like family, member 5"""	TTLL5		15890843	Standard	NM_153254		Approved	FLJ36119	uc001acy.2	Q6ZVT0	OTTHUMG00000000851	ENST00000379290.1:c.1074G>A	1.37:g.1118413G>A						TTLL10_ENST00000379289.1_Silent_p.A358A|TTLL10_ENST00000379288.3_Silent_p.A285A	p.A358A			Q6ZVT0	TTL10_HUMAN		Epithelial(90;4.75e-36)|OV - Ovarian serous cystadenocarcinoma(86;5.82e-22)|Colorectal(212;3.94e-05)|COAD - Colon adenocarcinoma(227;4.22e-05)|Kidney(185;0.00227)|BRCA - Breast invasive adenocarcinoma(365;0.00461)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0339)|Lung(427;0.199)	11	1247	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;9.48e-15)|all_lung(118;9.67e-07)|Lung NSC(185;5.59e-05)|Renal(390;0.00571)|Breast(487;0.0183)|Hepatocellular(190;0.0268)|Myeloproliferative disorder(586;0.028)|Ovarian(437;0.127)|Lung SC(97;0.217)	358			TTL.		B1AMF6|Q5T2W4|Q5T2W5|Q8N9X2	Silent	SNP	ENST00000379290.1	37	c.1074G>A	CCDS44036.1																																																																																				0.726	TTLL10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000002421.3	NM_153254		7	16	0	0	0	1	0	7	16				
CPT1B	1375	broad.mit.edu	37	22	51011396	51011396	+	Silent	SNP	G	G	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr22:51011396G>T	ENST00000360719.2	-	11	1397	c.1260C>A	c.(1258-1260)gcC>gcA	p.A420A	CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000395650.2_Silent_p.A420A|CPT1B_ENST00000457250.1_Silent_p.A386A|CPT1B_ENST00000312108.7_Silent_p.A420A|CPT1B_ENST00000440709.1_Intron|CPT1B_ENST00000405237.3_Silent_p.A420A|CPT1B_ENST00000434492.2_Silent_p.A217A	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN	carnitine palmitoyltransferase 1B (muscle)	420					carnitine shuttle (GO:0006853)|cellular lipid metabolic process (GO:0044255)|fatty acid beta-oxidation (GO:0006635)|small molecule metabolic process (GO:0044281)	integral component of membrane (GO:0016021)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)	carnitine O-palmitoyltransferase activity (GO:0004095)			central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)		CCTCATCCAGGGCCACGAAGA	0.587																																					Esophageal Squamous(170;988 1933 25577 30295 48163)	ENST00000360719.2																			0				central_nervous_system(1)|endometrium(2)|large_intestine(5)|lung(7)|ovary(2)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	22						c.(1258-1260)gcC>gcA		carnitine palmitoyltransferase 1B (muscle)							113.0	107.0	109.0					22																	51011396		2203	4300	6503	SO:0001819	synonymous_variant	1375				carnitine shuttle|fatty acid beta-oxidation|regulation of fatty acid oxidation	integral to membrane|mitochondrial outer membrane	carnitine O-palmitoyltransferase activity	g.chr22:51011396G>T	U62733	CCDS14098.1, CCDS46734.1	22q13.33	2007-07-26			ENSG00000205560	ENSG00000205560			2329	protein-coding gene	gene with protein product		601987				9070950	Standard	NM_152245		Approved	M-CPT1, CPT1-M	uc003bmm.3	Q92523	OTTHUMG00000137390	ENST00000360719.2:c.1260C>A	22.37:g.51011396G>T						CPT1B_ENST00000405237.3_Silent_p.A420A|CPT1B_ENST00000457250.1_Silent_p.A386A|CPT1B_ENST00000395650.2_Silent_p.A420A|CHKB-CPT1B_ENST00000453634.1_3'UTR|CPT1B_ENST00000434492.2_Silent_p.A217A|CPT1B_ENST00000312108.7_Silent_p.A420A|CPT1B_ENST00000440709.1_Intron	p.A420A	NM_001145135.1|NM_152245.2	NP_001138607.1|NP_689451.1	Q92523	CPT1B_HUMAN		all cancers(3;3.56e-77)|OV - Ovarian serous cystadenocarcinoma(4;5.39e-74)|Epithelial(4;5.58e-70)|GBM - Glioblastoma multiforme(4;5.59e-08)|LUAD - Lung adenocarcinoma(64;0.0016)|Lung(4;0.00942)|BRCA - Breast invasive adenocarcinoma(115;0.207)	11	1397	-		all_cancers(38;8.8e-15)|all_epithelial(38;1.12e-12)|all_lung(38;3.07e-05)|Breast(42;6.27e-05)|Lung NSC(38;0.000813)|Ovarian(80;0.0221)|Hepatocellular(38;0.0691)|Lung SC(80;0.113)	420					B7Z4U4|B7Z5T8|E9PCP2|Q13389|Q99655|Q9BY90	Silent	SNP	ENST00000360719.2	37	c.1260C>A	CCDS14098.1																																																																																				0.587	CPT1B-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317264.5	NM_152246		59	130	1	0	2.22609e-26	1	2.75013e-26	59	130				
CLEC17A	388512	broad.mit.edu	37	19	14705582	14705582	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:14705582G>A	ENST00000417570.1	+	7	411	c.373G>A	c.(373-375)Gcc>Acc	p.A125T	CLEC17A_ENST00000547437.1_Missense_Mutation_p.A125T|CLEC17A_ENST00000397439.2_Missense_Mutation_p.A108T	NM_001204118.1	NP_001191047.1	Q6ZS10	CL17A_HUMAN	C-type lectin domain family 17, member A	125						cell surface (GO:0009986)|integral component of membrane (GO:0016021)	fucose binding (GO:0042806)|mannose binding (GO:0005537)|metal ion binding (GO:0046872)										CCTGGACCTCGCCGCTGTCAC	0.527																																						ENST00000547437.1																			0											c.(373-375)Gcc>Acc		C-type lectin domain family 17, member A							72.0	74.0	73.0					19																	14705582		2001	4170	6171	SO:0001583	missense	388512					cell surface|integral to membrane	fucose binding|mannose binding|metal ion binding|receptor activity	g.chr19:14705582G>A	AK127809	CCDS46002.1, CCDS46002.2, CCDS56087.1	19p13.12	2009-06-26			ENSG00000187912	ENSG00000187912		"""C-type lectin domain containing"""	34520	protein-coding gene	gene with protein product	"""prolectin"""					19419970	Standard	NM_207390		Approved	FLJ45910	uc010dzn.2	Q6ZS10		ENST00000417570.1:c.373G>A	19.37:g.14705582G>A	ENSP00000393719:p.Ala125Thr					CLEC17A_ENST00000417570.1_Missense_Mutation_p.A125T|CLEC17A_ENST00000397439.2_Missense_Mutation_p.A108T	p.A125T	NM_207390.3	NP_997273.3	Q6ZS10	CL17A_HUMAN			7	450	+			125					A8MX68|B2RTX0|B7ZMM4	Missense_Mutation	SNP	ENST00000417570.1	37	c.373G>A	CCDS56087.1	.	.	.	.	.	.	.	.	.	.	g	0.019	-1.459006	0.01062	.	.	ENSG00000187912	ENST00000547437;ENST00000397439;ENST00000417570	T;T;T	0.63417	-0.04;-0.04;-0.04	3.42	-1.95	0.07548	.	4.506090	0.00760	N	0.001137	T	0.32436	0.0829	N	0.04508	-0.205	0.09310	N	1	B;B;B;B	0.10296	0.003;0.003;0.002;0.003	B;B;B;B	0.04013	0.001;0.001;0.0;0.001	T	0.38779	-0.9645	10	0.02654	T	1	-32.8595	3.9562	0.09391	0.393:0.3671:0.2398:0.0	.	125;125;125;125	Q6ZS10-2;Q6ZS10-3;Q6ZS10;F8W1T8	.;.;CL17A_HUMAN;.	T	125;108;125	ENSP00000450065:A125T;ENSP00000380581:A108T;ENSP00000393719:A125T	ENSP00000341620:A125T	A	+	1	0	CLEC17A	14566582	0.000000	0.05858	0.000000	0.03702	0.000000	0.00434	0.829000	0.27449	-0.628000	0.05582	-0.743000	0.03520	GCC		0.527	CLEC17A-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403400.1	NM_207390		9	30	0	0	0	1	0	9	30				
DGKE	8526	broad.mit.edu	37	17	54912400	54912400	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:54912400C>A	ENST00000284061.3	+	2	424	c.244C>A	c.(244-246)Ctg>Atg	p.L82M	C17orf67_ENST00000575658.1_5'Flank|DGKE_ENST00000576869.1_3'UTR|C17orf67_ENST00000487705.1_Intron|C17orf67_ENST00000397861.2_5'Flank|DGKE_ENST00000572810.1_Missense_Mutation_p.L82M	NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN	diacylglycerol kinase, epsilon 64kDa	82					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|phospholipid biosynthetic process (GO:0008654)|platelet activation (GO:0030168)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25	Breast(9;3.59e-07)					GCAGCACATTCTGCAGGGCGC	0.642																																						ENST00000284061.3																			0				breast(3)|endometrium(3)|large_intestine(3)|lung(10)|ovary(2)|pancreas(1)|skin(2)|urinary_tract(1)	25						c.(244-246)Ctg>Atg		diacylglycerol kinase, epsilon 64kDa							37.0	40.0	39.0					17																	54912400		2203	4300	6503	SO:0001583	missense	8526				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|phospholipid biosynthetic process|platelet activation	integral to membrane|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding|protein binding	g.chr17:54912400C>A	U49379	CCDS11590.1	17q22	2008-07-18	2002-08-29			ENSG00000153933	2.7.1.107		2852	protein-coding gene	gene with protein product		601440	"""diacylglycerol kinase, epsilon (64kD)"""			8626589, 10051413	Standard	NM_003647		Approved	DAGK6, DGK	uc002iur.3	P52429		ENST00000284061.3:c.244C>A	17.37:g.54912400C>A	ENSP00000284061:p.Leu82Met					DGKE_ENST00000572810.1_Missense_Mutation_p.L82M|C17orf67_ENST00000487705.1_Intron|DGKE_ENST00000576869.1_3'UTR	p.L82M	NM_003647.2	NP_003638.1	P52429	DGKE_HUMAN			2	424	+	Breast(9;3.59e-07)		82					Q8TBM4|Q9UKQ3	Missense_Mutation	SNP	ENST00000284061.3	37	c.244C>A	CCDS11590.1	.	.	.	.	.	.	.	.	.	.	C	20.1	3.933931	0.73442	.	.	ENSG00000153933	ENST00000284061	D	0.93247	-3.19	5.82	4.83	0.62350	Protein kinase C-like, phorbol ester/diacylglycerol binding (4);	0.149034	0.46758	D	0.000276	D	0.93471	0.7917	L	0.46157	1.445	0.54753	D	0.999983	P;P	0.38788	0.647;0.647	P;P	0.48873	0.593;0.593	D	0.92406	0.5933	10	0.37606	T	0.19	.	16.8337	0.85951	0.0:0.8714:0.1286:0.0	.	82;82	A1L4Q0;P52429	.;DGKE_HUMAN	M	82	ENSP00000284061:L82M	ENSP00000284061:L82M	L	+	1	2	DGKE	52267399	1.000000	0.71417	0.991000	0.47740	0.990000	0.78478	5.343000	0.65976	1.412000	0.46977	0.655000	0.94253	CTG		0.642	DGKE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000440601.1	NM_003647		26	49	1	0	3.28513e-13	1	3.72841e-13	26	49				
HERC2P3	283755	broad.mit.edu	37	15	20649509	20649509	+	RNA	SNP	G	G	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr15:20649509G>T	ENST00000428453.1	-	0	2689							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						CGAATCCTCTGCTGAGGGCTG	0.577																																						ENST00000428453.1																			0				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35															68.0	62.0	64.0					15																	20649509		2167	4213	6380			283755							g.chr15:20649509G>T	AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20649509G>T														0	2689	-									RNA	SNP	ENST00000428453.1	37																																																																																						0.577	HERC2P3-014	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347772.2	NG_008269		43	144	1	0	1.0442e-30	1	1.30313e-30	43	144				
BIRC6	57448	broad.mit.edu	37	2	32689676	32689676	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:32689676G>A	ENST00000421745.2	+	25	5175	c.5041G>A	c.(5041-5043)Gtg>Atg	p.V1681M		NM_016252.3	NP_057336	Q9NR09	BIRC6_HUMAN	baculoviral IAP repeat containing 6	1681					apoptotic process (GO:0006915)|labyrinthine layer development (GO:0060711)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of endopeptidase activity (GO:0010951)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|positive regulation of cell proliferation (GO:0008284)|protein phosphorylation (GO:0006468)|protein ubiquitination (GO:0016567)|regulation of cell proliferation (GO:0042127)|regulation of cytokinesis (GO:0032465)|spongiotrophoblast layer development (GO:0060712)	endosome (GO:0005768)|membrane (GO:0016020)|microtubule organizing center (GO:0005815)|midbody (GO:0030496)|spindle pole (GO:0000922)|trans-Golgi network (GO:0005802)	acid-amino acid ligase activity (GO:0016881)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|ubiquitin-protein transferase activity (GO:0004842)			NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172	Acute lymphoblastic leukemia(172;0.155)					TTCCAACCCAGTGGCTGCCCC	0.493																																					Pancreas(94;175 1509 16028 18060 45422)	ENST00000421745.2																			0				NS(4)|breast(8)|central_nervous_system(3)|endometrium(21)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(31)|lung(65)|ovary(7)|pancreas(1)|prostate(5)|skin(5)|stomach(1)|urinary_tract(5)	172						c.(5041-5043)Gtg>Atg		baculoviral IAP repeat containing 6							93.0	83.0	87.0					2																	32689676		2203	4300	6503	SO:0001583	missense	57448				anti-apoptosis|apoptosis	intracellular	acid-amino acid ligase activity|cysteine-type endopeptidase inhibitor activity|protein binding	g.chr2:32689676G>A	AF265555	CCDS33175.2	2p22.3	2011-01-25	2011-01-25		ENSG00000115760	ENSG00000115760		"""Baculoviral IAP repeat containing"", ""Ubiquitin-conjugating enzymes E2"""	13516	protein-coding gene	gene with protein product	"""apollon"""	605638	"""baculoviral IAP repeat-containing 6"""			10544019	Standard	NM_016252		Approved	BRUCE	uc010ezu.3	Q9NR09	OTTHUMG00000150528	ENST00000421745.2:c.5041G>A	2.37:g.32689676G>A	ENSP00000393596:p.Val1681Met						p.V1681M	NM_016252.3	NP_057336.3	Q9NR09	BIRC6_HUMAN			25	5175	+	Acute lymphoblastic leukemia(172;0.155)		1681					Q9ULD1	Missense_Mutation	SNP	ENST00000421745.2	37	c.5041G>A	CCDS33175.2	.	.	.	.	.	.	.	.	.	.	G	14.03	2.414342	0.42817	.	.	ENSG00000115760	ENST00000421745	T	0.74632	-0.86	5.84	5.84	0.93424	.	0.306611	0.31472	N	0.007581	T	0.62245	0.2412	N	0.08118	0	0.40426	D	0.979896	B	0.22480	0.07	B	0.28011	0.085	T	0.59268	-0.7486	10	0.46703	T	0.11	.	20.1551	0.98106	0.0:0.0:1.0:0.0	.	1681	Q9NR09	BIRC6_HUMAN	M	1681	ENSP00000393596:V1681M	ENSP00000393596:V1681M	V	+	1	0	BIRC6	32543180	1.000000	0.71417	0.993000	0.49108	0.879000	0.50718	3.362000	0.52314	2.760000	0.94817	0.655000	0.94253	GTG		0.493	BIRC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318769.3	NM_016252		8	15	0	0	0	1	0	8	15				
SLCO2A1	6578	broad.mit.edu	37	3	133657316	133657316	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr3:133657316C>A	ENST00000310926.4	-	12	1920	c.1647G>T	c.(1645-1647)aaG>aaT	p.K549N	SLCO2A1_ENST00000493729.1_Missense_Mutation_p.K473N	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN	solute carrier organic anion transporter family, member 2A1	549					lipid transport (GO:0006869)|sodium-independent organic anion transport (GO:0043252)|transmembrane transport (GO:0055085)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	lipid transporter activity (GO:0005319)|prostaglandin transmembrane transporter activity (GO:0015132)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30					Alprostadil(DB00770)|Dinoprost Tromethamine(DB01160)|Dinoprostone(DB00917)|Furosemide(DB00695)|Iloprost(DB01088)|Phenobarbital(DB01174)|Pyruvic acid(DB00119)	TGGCAAATGACTTTTCCTCCT	0.552																																						ENST00000310926.4																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)|skin(2)|stomach(2)	30						c.(1645-1647)aaG>aaT		solute carrier organic anion transporter family, member 2A1							132.0	117.0	122.0					3																	133657316		2203	4300	6503	SO:0001583	missense	6578				sodium-independent organic anion transport	integral to plasma membrane|membrane fraction	prostaglandin transmembrane transporter activity|protein binding	g.chr3:133657316C>A		CCDS3084.1	3q21	2013-05-22	2003-11-25	2003-11-26	ENSG00000174640	ENSG00000174640		"""Solute carriers"""	10955	protein-coding gene	gene with protein product		601460	"""solute carrier family 21 (prostaglandin transporter), member 2"", ""matrin F/G 1"""	SLC21A2, MATR1		8787677, 9618293	Standard	NM_005630		Approved	PGT, OATP2A1	uc003eqa.4	Q92959	OTTHUMG00000159745	ENST00000310926.4:c.1647G>T	3.37:g.133657316C>A	ENSP00000311291:p.Lys549Asn					SLCO2A1_ENST00000493729.1_Missense_Mutation_p.K473N	p.K549N	NM_005630.2	NP_005621.2	Q92959	SO2A1_HUMAN			12	1920	-			549					Q86V98|Q8IUN2	Missense_Mutation	SNP	ENST00000310926.4	37	c.1647G>T	CCDS3084.1	.	.	.	.	.	.	.	.	.	.	C	17.94	3.510964	0.64522	.	.	ENSG00000174640	ENST00000310926;ENST00000493729	T;T	0.57436	0.4;0.4	5.79	5.79	0.91817	Major facilitator superfamily domain, general substrate transporter (1);Major facilitator superfamily domain (1);	0.000000	0.85682	D	0.000000	T	0.80644	0.4662	M	0.93808	3.46	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.85149	0.0985	10	0.87932	D	0	.	18.2017	0.89840	0.0:1.0:0.0:0.0	.	473;549	E7EU40;Q92959	.;SO2A1_HUMAN	N	549;473	ENSP00000311291:K549N;ENSP00000418893:K473N	ENSP00000311291:K549N	K	-	3	2	SLCO2A1	135140006	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	2.084000	0.41625	2.735000	0.93741	0.561000	0.74099	AAG		0.552	SLCO2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000357131.1	NM_005630		54	95	1	0	1.54886e-18	1	1.85742e-18	54	95				
OR4A5	81318	broad.mit.edu	37	11	51411544	51411544	+	Silent	SNP	A	A	G			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:51411544A>G	ENST00000319760.6	-	1	904	c.852T>C	c.(850-852)taT>taC	p.Y284Y		NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN	olfactory receptor, family 4, subfamily A, member 5	284						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49		all_lung(304;0.236)				TTCTCAACGTATATATTAAAG	0.323																																						ENST00000319760.6																			0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(8)|lung(28)|ovary(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	49						c.(850-852)taT>taC		olfactory receptor, family 4, subfamily A, member 5							35.0	37.0	37.0					11																	51411544		2201	4294	6495	SO:0001819	synonymous_variant	81318				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:51411544A>G	AB065506	CCDS73289.1	11p11.12	2012-08-09			ENSG00000221840	ENSG00000221840		"""GPCR / Class A : Olfactory receptors"""	15162	protein-coding gene	gene with protein product							Standard	NM_001005272		Approved		uc001nhi.2	Q8NH83	OTTHUMG00000166764	ENST00000319760.6:c.852T>C	11.37:g.51411544A>G							p.Y284Y	NM_001005272.3	NP_001005272.3	Q8NH83	OR4A5_HUMAN			1	904	-		all_lung(304;0.236)	284					Q6IF84	Silent	SNP	ENST00000319760.6	37	c.852T>C	CCDS31497.1																																																																																				0.323	OR4A5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391399.1	NM_001005272		17	22	0	0	0	1	0	17	22				
SHQ1	55164	broad.mit.edu	37	3	72890301	72890301	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr3:72890301C>A	ENST00000325599.8	-	4	520	c.381G>T	c.(379-381)tgG>tgT	p.W127C	SHQ1_ENST00000463369.1_Missense_Mutation_p.W99C	NM_018130.2	NP_060600.2	Q6PI26	SHQ1_HUMAN	SHQ1, H/ACA ribonucleoprotein assembly factor	127					negative regulation of rRNA processing (GO:2000233)|positive regulation of apoptotic process (GO:0043065)|ribonucleoprotein complex assembly (GO:0022618)	cytoplasm (GO:0005737)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)		GCTCAATTTCCCAATCAAACT	0.388																																						ENST00000325599.8																			0				NS(1)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(7)|lung(8)|ovary(2)|prostate(1)|skin(2)|urinary_tract(1)	27						c.(379-381)tgG>tgT		SHQ1, H/ACA ribonucleoprotein assembly factor							116.0	107.0	110.0					3																	72890301		2203	4300	6503	SO:0001583	missense	55164				ribonucleoprotein complex assembly	cytosol|nucleoplasm	protein binding	g.chr3:72890301C>A	BC025270	CCDS33788.1	3p13	2013-01-08	2013-01-08		ENSG00000144736	ENSG00000144736			25543	protein-coding gene	gene with protein product		613663	"""SHQ1 homolog (S. cerevisiae)"""			12477932	Standard	NM_018130		Approved	FLJ10539, Shq1p	uc003dpf.3	Q6PI26	OTTHUMG00000158814	ENST00000325599.8:c.381G>T	3.37:g.72890301C>A	ENSP00000315182:p.Trp127Cys					SHQ1_ENST00000463369.1_Missense_Mutation_p.W99C	p.W127C	NM_018130.2	NP_060600.2	Q6PI26	SHQ1_HUMAN		BRCA - Breast invasive adenocarcinoma(55;9.68e-05)|Epithelial(33;0.000563)|LUSC - Lung squamous cell carcinoma(21;0.00229)|Lung(16;0.00688)|KIRC - Kidney renal clear cell carcinoma(39;0.018)|Kidney(39;0.0213)	4	520	-		Prostate(10;0.00482)|Lung NSC(201;0.0339)|Myeloproliferative disorder(1037;0.204)	127					B4DL05|Q6MZJ4|Q7Z748|Q9H7E5|Q9NVS8	Missense_Mutation	SNP	ENST00000325599.8	37	c.381G>T	CCDS33788.1	.	.	.	.	.	.	.	.	.	.	C	20.7	4.027303	0.75390	.	.	ENSG00000144736	ENST00000325599;ENST00000463369;ENST00000482785	T;T;T	0.54675	1.06;0.96;0.56	5.27	5.27	0.74061	.	0.000000	0.85682	D	0.000000	T	0.75361	0.3839	M	0.83118	2.625	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.77059	-0.2728	10	0.49607	T	0.09	-15.0328	18.0177	0.89246	0.0:1.0:0.0:0.0	.	127	Q6PI26	SHQ1_HUMAN	C	127;99;38	ENSP00000315182:W127C;ENSP00000417452:W99C;ENSP00000418398:W38C	ENSP00000315182:W127C	W	-	3	0	SHQ1	72972991	1.000000	0.71417	1.000000	0.80357	0.925000	0.55904	6.607000	0.74163	2.623000	0.88846	0.585000	0.79938	TGG		0.388	SHQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352310.1	NM_018130		27	32	1	0	1.26454e-06	1	1.34563e-06	27	32				
TMPRSS15	5651	broad.mit.edu	37	21	19666658	19666658	+	Silent	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr21:19666658G>A	ENST00000284885.3	-	21	2448	c.2415C>T	c.(2413-2415)ggC>ggT	p.G805G		NM_002772.2	NP_002763	P98073	ENTK_HUMAN	transmembrane protease, serine 15	805	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.					brush border (GO:0005903)|integral component of membrane (GO:0016021)	scavenger receptor activity (GO:0005044)|serine-type endopeptidase activity (GO:0004252)			NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						GCAGTCGGCCGCCATAATACA	0.562																																						ENST00000284885.3																			0				NS(1)|breast(2)|cervix(1)|endometrium(4)|kidney(7)|large_intestine(19)|lung(36)|ovary(6)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)	85						c.(2413-2415)ggC>ggT		transmembrane protease, serine 15							90.0	97.0	95.0					21																	19666658		2203	4300	6503	SO:0001819	synonymous_variant	5651				proteolysis	brush border|integral to membrane	scavenger receptor activity|serine-type endopeptidase activity	g.chr21:19666658G>A		CCDS13571.1	21q21	2010-12-09	2010-04-21	2010-04-21	ENSG00000154646	ENSG00000154646		"""Serine peptidases / Transmembrane"""	9490	protein-coding gene	gene with protein product	"""proenterokinase"", ""enteropeptidase"""	606635	"""protease, serine, 7 (enterokinase)"""	PRSS7		8052624	Standard	NM_002772		Approved	ENTK, MGC133046	uc002ykw.3	P98073	OTTHUMG00000074518	ENST00000284885.3:c.2415C>T	21.37:g.19666658G>A							p.G805G	NM_002772.2	NP_002763.2	P98073	ENTK_HUMAN			21	2448	-			805			Peptidase S1.		Q2NKL7	Silent	SNP	ENST00000284885.3	37	c.2415C>T	CCDS13571.1																																																																																				0.562	TMPRSS15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000158231.2	NM_002772		49	99	0	0	0	1	0	49	99				
ZNF804A	91752	broad.mit.edu	37	2	185798422	185798422	+	Silent	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:185798422C>A	ENST00000302277.6	+	3	942	c.348C>A	c.(346-348)cgC>cgA	p.R116R		NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN	zinc finger protein 804A	116							metal ion binding (GO:0046872)	p.R116R(1)		NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						CACTCCAACGCCTGCACAAGC	0.403																																						ENST00000302277.6																			1	Substitution - coding silent(1)	p.R116R(1)	lung(1)	NS(5)|breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(7)|large_intestine(22)|liver(2)|lung(79)|ovary(7)|pancreas(1)|prostate(2)|skin(12)|urinary_tract(1)	146						c.(346-348)cgC>cgA		zinc finger protein 804A							56.0	58.0	57.0					2																	185798422		2203	4300	6503	SO:0001819	synonymous_variant	91752					intracellular	zinc ion binding	g.chr2:185798422C>A	AF052145	CCDS2291.1	2q32.1	2012-10-05	2006-10-27	2006-10-27	ENSG00000170396	ENSG00000170396			21711	protein-coding gene	gene with protein product		612282		C2orf10		12970790	Standard	NM_194250		Approved		uc002uph.3	Q7Z570	OTTHUMG00000132625	ENST00000302277.6:c.348C>A	2.37:g.185798422C>A							p.R116R	NM_194250.1	NP_919226.1	Q7Z570	Z804A_HUMAN			3	942	+			116					A7E253|Q6ZN26	Silent	SNP	ENST00000302277.6	37	c.348C>A	CCDS2291.1																																																																																				0.403	ZNF804A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255871.1	NM_194250		11	27	1	0	0.00829132	1	0.00844257	11	27				
PARM1	25849	broad.mit.edu	37	4	75938152	75938152	+	Silent	SNP	T	T	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr4:75938152T>C	ENST00000307428.7	+	2	773	c.561T>C	c.(559-561)acT>acC	p.T187T	RP11-44F21.2_ENST00000513770.1_RNA|PARM1_ENST00000513238.1_Intron	NM_015393.3	NP_056208.2	Q6UWI2	PARM1_HUMAN	prostate androgen-regulated mucin-like protein 1	187					positive regulation of telomerase activity (GO:0051973)	early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)|plasma membrane (GO:0005886)				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						CCCAACCCACTGGAGCTCCAA	0.567																																						ENST00000307428.7																			0				cervix(1)|endometrium(2)|lung(4)|ovary(1)	8						c.(559-561)acT>acC		prostate androgen-regulated mucin-like protein 1							197.0	210.0	206.0					4																	75938152		2130	4254	6384	SO:0001819	synonymous_variant	25849				positive regulation of telomerase activity	early endosome|endosome membrane|Golgi membrane|integral to membrane|late endosome|plasma membrane		g.chr4:75938152T>C	AK022311	CCDS47077.1	4q13.3-q21.3	2010-02-17	2009-09-28		ENSG00000169116	ENSG00000169116			24536	protein-coding gene	gene with protein product	"""Prostatic androgen-repressed message 1"", ""Castration-induced prostatic apoptosis-related protein 1"", ""WSC4, cell wall integrity and stress response component 4 homolog (S. cerevisiae)"""					10499539, 12772192, 18027867	Standard	NM_015393		Approved	DKFZP564O0823, Cipar1, WSC4	uc003hih.2	Q6UWI2	OTTHUMG00000160827	ENST00000307428.7:c.561T>C	4.37:g.75938152T>C						RP11-44F21.2_ENST00000513770.1_RNA|PARM1_ENST00000513238.1_Intron	p.T187T	NM_015393.3	NP_056208.2	Q6UWI2	PARM1_HUMAN			2	773	+			187					B3KMQ9|Q96DV8|Q9Y4S1	Silent	SNP	ENST00000307428.7	37	c.561T>C	CCDS47077.1																																																																																				0.567	PARM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000362494.1	NM_015393		106	171	0	0	0	1	0	106	171				
COL2A1	1280	broad.mit.edu	37	12	48380126	48380126	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr12:48380126C>T	ENST00000380518.3	-	23	1684	c.1520G>A	c.(1519-1521)gGa>gAa	p.G507E	COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Missense_Mutation_p.G438E	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN	collagen, type II, alpha 1	507	Triple-helical region.				axon guidance (GO:0007411)|cartilage condensation (GO:0001502)|cartilage development (GO:0051216)|cartilage development involved in endochondral bone morphogenesis (GO:0060351)|cellular response to BMP stimulus (GO:0071773)|central nervous system development (GO:0007417)|chondrocyte differentiation (GO:0002062)|collagen catabolic process (GO:0030574)|collagen fibril organization (GO:0030199)|embryonic skeletal joint morphogenesis (GO:0060272)|endochondral ossification (GO:0001958)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|heart morphogenesis (GO:0003007)|inner ear morphogenesis (GO:0042472)|limb bud formation (GO:0060174)|negative regulation of extrinsic apoptotic signaling pathway in absence of ligand (GO:2001240)|notochord development (GO:0030903)|otic vesicle development (GO:0071599)|palate development (GO:0060021)|proteoglycan metabolic process (GO:0006029)|regulation of gene expression (GO:0010468)|sensory perception of sound (GO:0007605)|skeletal system development (GO:0001501)|tissue homeostasis (GO:0001894)|visual perception (GO:0007601)	basement membrane (GO:0005604)|collagen type II trimer (GO:0005585)|endoplasmic reticulum lumen (GO:0005788)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)	extracellular matrix structural constituent conferring tensile strength (GO:0030020)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|platelet-derived growth factor binding (GO:0048407)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)			Collagenase(DB00048)	AACTCTTTCTCCAGGGGGACC	0.632																																						ENST00000380518.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(9)|lung(25)|ovary(1)|prostate(1)|skin(7)|upper_aerodigestive_tract(2)|urinary_tract(3)	64						c.(1519-1521)gGa>gAa		collagen, type II, alpha 1	Collagenase(DB00048)						29.0	27.0	28.0					12																	48380126		2187	4283	6470	SO:0001583	missense	1280				axon guidance|collagen fibril organization|embryonic skeletal joint morphogenesis|sensory perception of sound|visual perception	collagen type II	identical protein binding|platelet-derived growth factor binding	g.chr12:48380126C>T	X16468	CCDS8759.1, CCDS41778.1	12q12-q13.2	2013-11-14	2008-02-04		ENSG00000139219	ENSG00000139219		"""Collagens"""	2200	protein-coding gene	gene with protein product		120140	"""collagen, type II, alpha 1 (primary osteoarthritis, spondyloepiphyseal dysplasia, congenital)"", ""arthroophthalmopathy, progressive (Stickler syndrome)"""	SEDC, AOM		1677770	Standard	NM_033150		Approved	STL1	uc001rqu.3	P02458	OTTHUMG00000149896	ENST00000380518.3:c.1520G>A	12.37:g.48380126C>T	ENSP00000369889:p.Gly507Glu					COL2A1_ENST00000493991.1_5'UTR|COL2A1_ENST00000337299.6_Missense_Mutation_p.G438E	p.G507E	NM_001844.4|NM_033150.2	NP_001835.3|NP_149162.2	P02458	CO2A1_HUMAN			23	1684	-		Acute lymphoblastic leukemia(13;0.108)|all_hematologic(14;0.214)	507			Triple-helical region.		A6NGA0|Q12985|Q14009|Q14044|Q14045|Q14046|Q14047|Q14056|Q14058|Q16672|Q1JQ82|Q2V4X7|Q6LBY1|Q6LBY2|Q6LBY3|Q96IT5|Q99227|Q9UE38|Q9UE39|Q9UE40|Q9UE41|Q9UE42|Q9UE43	Missense_Mutation	SNP	ENST00000380518.3	37	c.1520G>A	CCDS41778.1	.	.	.	.	.	.	.	.	.	.	C	25.2	4.614649	0.87359	.	.	ENSG00000139219	ENST00000380518;ENST00000395281;ENST00000337299	D;D	0.99619	-6.28;-6.28	4.87	4.87	0.63330	.	0.000000	0.85682	D	0.000000	D	0.99718	0.9891	M	0.93638	3.44	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.87578	0.998;0.998	D	0.97338	0.9955	10	0.87932	D	0	.	16.9549	0.86256	0.0:1.0:0.0:0.0	.	438;507	P02458-1;P02458	.;CO2A1_HUMAN	E	507;438;438	ENSP00000369889:G507E;ENSP00000338213:G438E	ENSP00000338213:G438E	G	-	2	0	COL2A1	46666393	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	7.601000	0.82783	2.537000	0.85549	0.561000	0.74099	GGA		0.632	COL2A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313810.2	NM_001844		8	1	0	0	0	1	0	8	1				
ZNF845	91664	broad.mit.edu	37	19	53854694	53854694	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:53854694C>T	ENST00000595091.1	+	5	985	c.766C>T	c.(766-768)Cga>Tga	p.R256*	ZNF845_ENST00000458035.1_Nonsense_Mutation_p.R256*			Q96IR2	ZN845_HUMAN	zinc finger protein 845	256					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)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						TAATCAAAAGCGATATCTTGC	0.388																																						ENST00000458035.1																			0				endometrium(2)|kidney(10)|lung(7)|pancreas(1)|prostate(1)|skin(2)|stomach(1)|urinary_tract(2)	26						c.(766-768)Cga>Tga		zinc finger protein 845							114.0	93.0	100.0					19																	53854694		692	1591	2283	SO:0001587	stop_gained	91664				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53854694C>T	BC007307	CCDS46170.1	19q13.42	2013-01-08			ENSG00000213799	ENSG00000213799		"""Zinc fingers, C2H2-type"", ""-"""	25112	protein-coding gene	gene with protein product							Standard	NM_138374		Approved		uc010ydv.1	Q96IR2		ENST00000595091.1:c.766C>T	19.37:g.53854694C>T	ENSP00000470005:p.Arg256*					ZNF845_ENST00000595091.1_Nonsense_Mutation_p.R256*	p.R256*	NM_138374.1	NP_612383.1	Q96IR2	ZN845_HUMAN			4	883	+			256						Nonsense_Mutation	SNP	ENST00000595091.1	37	c.766C>T	CCDS46170.1	.	.	.	.	.	.	.	.	.	.	C	18.54	3.645165	0.67358	.	.	ENSG00000213799	ENST00000458035;ENST00000427984	.	.	.	1.91	-3.55	0.04639	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.49607	T	0.09	.	1.0967	0.01675	0.1619:0.1381:0.3243:0.3757	.	.	.	.	X	256	.	ENSP00000412086:R256X	R	+	1	2	ZNF845	58546506	0.000000	0.05858	0.000000	0.03702	0.382000	0.30200	-2.220000	0.01217	-0.464000	0.06963	0.205000	0.17691	CGA		0.388	ZNF845-001	KNOWN	upstream_uORF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000464359.1	XM_039908		15	49	0	0	0	1	0	15	49				
DMRTA1	63951	broad.mit.edu	37	9	22447589	22447589	+	Silent	SNP	C	C	G			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr9:22447589C>G	ENST00000325870.2	+	1	750	c.525C>G	c.(523-525)ggC>ggG	p.G175G		NM_022160.2	NP_071443.2	Q5VZB9	DMRTA_HUMAN	DMRT-like family A1	175					male mating behavior (GO:0060179)|ovarian follicle development (GO:0001541)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15		all_cancers(5;4.09e-243)|Acute lymphoblastic leukemia(3;8.25e-150)|all_hematologic(3;4.25e-147)|Esophageal squamous(3;2.32e-09)|Renal(3;1.71e-07)|Breast(3;2.07e-06)|Hepatocellular(5;0.00563)		GBM - Glioblastoma multiforme(1;5.12e-278)|Lung(24;8.2e-52)|LUSC - Lung squamous cell carcinoma(38;1.46e-37)|OV - Ovarian serous cystadenocarcinoma(39;0.0517)		CATCCGGGGGCGGCGGCAGAG	0.746																																						ENST00000325870.1																			0				breast(1)|kidney(1)|large_intestine(3)|lung(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	15						c.(523-525)ggC>ggG		DMRT-like family A1							6.0	8.0	7.0					9																	22447589		1929	4056	5985	SO:0001819	synonymous_variant	63951				cell differentiation|sex differentiation	nucleus	DNA binding|metal ion binding|sequence-specific DNA binding transcription factor activity	g.chr9:22447589C>G	AJ290954	CCDS6514.1	9p21.3	2008-05-15			ENSG00000176399	ENSG00000176399			13826	protein-coding gene	gene with protein product		614803					Standard	NM_022160		Approved		uc003zpp.1	Q5VZB9	OTTHUMG00000019693	ENST00000325870.2:c.525C>G	9.37:g.22447589C>G							p.G175G	NM_022160.2	NP_071443.2	Q5VZB9	DMRTA_HUMAN		GBM - Glioblastoma multiforme(1;5.12e-278)|Lung(24;8.2e-52)|LUSC - Lung squamous cell carcinoma(38;1.46e-37)|OV - Ovarian serous cystadenocarcinoma(39;0.0517)	1	750	+		all_cancers(5;4.09e-243)|Acute lymphoblastic leukemia(3;8.25e-150)|all_hematologic(3;4.25e-147)|Esophageal squamous(3;2.32e-09)|Renal(3;1.71e-07)|Breast(3;2.07e-06)|Hepatocellular(5;0.00563)	175					A1L481|Q8N8Y9|Q9H4B9	Silent	SNP	ENST00000325870.2	37	c.525C>G	CCDS6514.1																																																																																				0.746	DMRTA1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000051935.2			5	8	0	0	0	1	0	5	8				
IRF2	3660	broad.mit.edu	37	4	185320135	185320135	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr4:185320135C>T	ENST00000393593.3	-	7	835	c.628G>A	c.(628-630)Gac>Aac	p.D210N		NM_002199.3	NP_002190.2	P14316	IRF2_HUMAN	interferon regulatory factor 2	210					blood coagulation (GO:0007596)|cell proliferation (GO:0008283)|cytokine-mediated signaling pathway (GO:0019221)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)|type I interferon signaling pathway (GO:0060337)	cytosol (GO:0005829)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|regulatory region DNA binding (GO:0000975)|sequence-specific DNA binding transcription factor activity (GO:0003700)			cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)		GGCTGCTCGTCGCTCTCAGTG	0.567																																						ENST00000393593.3																			0				cervix(1)|endometrium(2)|kidney(1)|large_intestine(4)|liver(2)|lung(3)|ovary(2)|prostate(1)|skin(3)|stomach(1)|urinary_tract(2)	22						c.(628-630)Gac>Aac		interferon regulatory factor 2							123.0	107.0	112.0					4																	185320135		2203	4300	6503	SO:0001583	missense	3660				blood coagulation|cell proliferation|interferon-gamma-mediated signaling pathway|negative regulation of transcription from RNA polymerase II promoter|type I interferon-mediated signaling pathway	focal adhesion|nucleoplasm	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity	g.chr4:185320135C>T		CCDS3835.1	4q34.1-q35.1	2008-07-29				ENSG00000168310			6117	protein-coding gene	gene with protein product		147576				2475256	Standard	NM_002199		Approved		uc003iwf.4	P14316		ENST00000393593.3:c.628G>A	4.37:g.185320135C>T	ENSP00000377218:p.Asp210Asn						p.D210N	NM_002199.3	NP_002190.2	P14316	IRF2_HUMAN		all cancers(43;3.94e-27)|Epithelial(43;5.3e-24)|OV - Ovarian serous cystadenocarcinoma(60;1.06e-10)|Colorectal(24;7.98e-07)|STAD - Stomach adenocarcinoma(60;3.95e-05)|GBM - Glioblastoma multiforme(59;8.3e-05)|COAD - Colon adenocarcinoma(29;0.000106)|BRCA - Breast invasive adenocarcinoma(30;0.000311)|LUSC - Lung squamous cell carcinoma(40;0.0128)|READ - Rectum adenocarcinoma(43;0.0419)	7	835	-		all_lung(41;7.86e-14)|Lung NSC(41;1.87e-13)|Colorectal(36;0.00146)|Hepatocellular(41;0.00826)|Renal(120;0.00992)|Prostate(90;0.0115)|all_neural(102;0.0573)|all_hematologic(60;0.0592)	210					D6RCK5|H0Y8S3|Q6IAS7|Q96B99	Missense_Mutation	SNP	ENST00000393593.3	37	c.628G>A	CCDS3835.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	27.3|27.3	4.821977|4.821977	0.90873|0.90873	.|.	.|.	ENSG00000168310|ENSG00000168310	ENST00000393593;ENST00000502750|ENST00000505067	D;D|.	0.83075|.	-1.68;-1.68|.	6.02|6.02	6.02|6.02	0.97574|0.97574	.|.	0.188500|.	0.46758|.	D|.	0.000270|.	T|T	0.69575|0.69575	0.3126|0.3126	L|L	0.44542|0.44542	1.39|1.39	0.53688|0.53688	D|D	0.999972|0.999972	P|.	0.50066|.	0.931|.	B|.	0.38921|.	0.285|.	T|T	0.62501|0.62501	-0.6841|-0.6841	10|5	0.41790|.	T|.	0.15|.	-16.4976|-16.4976	20.5407|20.5407	0.99260|0.99260	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	210|.	P14316|.	IRF2_HUMAN|.	N|Q	210;67|143	ENSP00000377218:D210N;ENSP00000423074:D67N|.	ENSP00000377218:D210N|.	D|R	-|-	1|2	0|0	IRF2|IRF2	185557129|185557129	1.000000|1.000000	0.71417|0.71417	0.473000|0.473000	0.27253|0.27253	0.749000|0.749000	0.42624|0.42624	6.300000|6.300000	0.72776|0.72776	2.865000|2.865000	0.98341|0.98341	0.655000|0.655000	0.94253|0.94253	GAC|CGA		0.567	IRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361393.1			36	69	0	0	0	1	0	36	69				
GON4L	54856	broad.mit.edu	37	1	155783569	155783569	+	Silent	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:155783569G>A	ENST00000368331.1	-	10	1356	c.1308C>T	c.(1306-1308)atC>atT	p.I436I	GON4L_ENST00000361040.5_Silent_p.I436I|GON4L_ENST00000437809.1_Silent_p.I436I|GON4L_ENST00000271883.5_Silent_p.I436I|GON4L_ENST00000471341.1_5'UTR	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	436					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)	p.I436I(3)		NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TGATGTGCCTGATGGCTGGTG	0.473																																						ENST00000437809.1																			3	Substitution - coding silent(3)	p.I436I(3)	breast(3)	NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45						c.(1306-1308)atC>atT		gon-4-like (C. elegans)							52.0	49.0	50.0					1																	155783569		2203	4300	6503	SO:0001819	synonymous_variant	54856				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:155783569G>A	AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.1308C>T	1.37:g.155783569G>A						GON4L_ENST00000271883.5_Silent_p.I436I|GON4L_ENST00000361040.5_Silent_p.I436I|GON4L_ENST00000368331.1_Silent_p.I436I|GON4L_ENST00000471341.1_5'UTR	p.I436I			Q3T8J9	GON4L_HUMAN			10	1430	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)		436					B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Silent	SNP	ENST00000368331.1	37	c.1308C>T																																																																																					0.473	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_032292		16	32	0	0	0	1	0	16	32				
PLEKHA7	144100	broad.mit.edu	37	11	16824587	16824587	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:16824587T>C	ENST00000355661.3	-	15	2099	c.2089A>G	c.(2089-2091)Atc>Gtc	p.I697V	PLEKHA7_ENST00000448080.2_Missense_Mutation_p.I697V|PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.I697V			Q6IQ23	PKHA7_HUMAN	pleckstrin homology domain containing, family A member 7	697					epithelial cell-cell adhesion (GO:0090136)|zonula adherens maintenance (GO:0045218)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|zonula adherens (GO:0005915)	delta-catenin binding (GO:0070097)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						TCACAGAAGATGCTCAGTTTG	0.463																																						ENST00000355661.3																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(3)|large_intestine(7)|lung(13)|ovary(1)|prostate(2)|skin(7)|urinary_tract(1)	37						c.(2089-2091)Atc>Gtc		pleckstrin homology domain containing, family A member 7							107.0	102.0	103.0					11																	16824587		2200	4294	6494	SO:0001583	missense	144100				epithelial cell-cell adhesion|zonula adherens maintenance	centrosome|zonula adherens	delta-catenin binding	g.chr11:16824587T>C	BC033239	CCDS31434.1	11p15	2013-01-10			ENSG00000166689	ENSG00000166689		"""Pleckstrin homology (PH) domain containing"""	27049	protein-coding gene	gene with protein product		612686				12477932	Standard	NM_175058		Approved	DKFZp686M22243	uc001mmo.3	Q6IQ23	OTTHUMG00000165954	ENST00000355661.3:c.2089A>G	11.37:g.16824587T>C	ENSP00000347883:p.Ile697Val					PLEKHA7_ENST00000532079.1_Intron|PLEKHA7_ENST00000531066.1_Missense_Mutation_p.I697V|PLEKHA7_ENST00000448080.2_Missense_Mutation_p.I697V	p.I697V			Q6IQ23	PKHA7_HUMAN			15	2099	-			697					B4DK33|B4DWC3|Q86VZ7	Missense_Mutation	SNP	ENST00000355661.3	37	c.2089A>G	CCDS31434.1	.	.	.	.	.	.	.	.	.	.	T	3.898	-0.022533	0.07634	.	.	ENSG00000166689	ENST00000531066;ENST00000355661;ENST00000448080;ENST00000525581	T;T;T;T	0.34859	1.34;1.34;1.34;1.34	5.84	-2.73	0.05950	.	0.619140	0.16989	N	0.191375	T	0.21674	0.0522	N	0.17082	0.46	0.29232	N	0.873217	B;B;B;B	0.06786	0.0;0.0;0.0;0.001	B;B;B;B	0.06405	0.001;0.001;0.0;0.002	T	0.11179	-1.0598	10	0.44086	T	0.13	-9.5115	15.1524	0.72709	0.0:0.6703:0.0:0.3297	.	271;697;697;697	Q6IQ23-3;E9PKC0;Q6IQ23;Q6IQ23-2	.;.;PKHA7_HUMAN;.	V	697;697;697;28	ENSP00000435389:I697V;ENSP00000347883:I697V;ENSP00000416895:I697V;ENSP00000431455:I28V	ENSP00000347883:I697V	I	-	1	0	PLEKHA7	16781163	0.015000	0.18098	0.956000	0.39512	0.994000	0.84299	-0.342000	0.07801	-0.413000	0.07507	0.459000	0.35465	ATC		0.463	PLEKHA7-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000387242.2	NM_175058		36	60	0	0	0	1	0	36	60				
IGLV2-33	28811	broad.mit.edu	37	22	22930912	22930912	+	RNA	SNP	C	C	T	rs373304600		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr22:22930912C>T	ENST00000390302.2	+	0	165									immunoglobulin lambda variable 2-33 (non-functional)																		CCTGGACAGTCGGTCACCATC	0.547																																						ENST00000390302.2																			0															C		5,4101		0,5,2048	188.0	188.0	188.0			1.3	0.0	22		188	0,8414		0,0,4207	no	intergenic				0,5,6255	TT,TC,CC		0.0,0.1218,0.0399			22930912	5,12515	2053	4207	6260			28811							g.chr22:22930912C>T	Z73643		22q11.2	2012-02-08	2008-09-15		ENSG00000211656	ENSG00000211656		"""Immunoglobulins / IGL locus"""	5892	other	immunoglobulin gene			"""immunoglobulin lambda variable 2-33"""				Standard	NG_000002		Approved				OTTHUMG00000151178		22.37:g.22930912C>T														0	165	+									RNA	SNP	ENST00000390302.2	37																																																																																						0.547	IGLV2-33-001	KNOWN	mRNA_end_NF|cds_end_NF|basic|appris_principal	IG_V_gene	IG_V_gene	OTTHUMT00000321664.2	NG_000002		6	268	0	0	0	1	0	6	268				
GRM5	2915	broad.mit.edu	37	11	88780452	88780452	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:88780452G>T	ENST00000305447.4	-	1	738	c.589C>A	c.(589-591)Cag>Aag	p.Q197K	GRM5_ENST00000418177.2_Missense_Mutation_p.Q197K|GRM5_ENST00000305432.5_Missense_Mutation_p.Q197K|GRM5_ENST00000393294.3_Missense_Mutation_p.Q197K|GRM5_ENST00000455756.2_Missense_Mutation_p.Q197K|GRM5_ENST00000393297.1_Missense_Mutation_p.Q197K	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	197					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	CTTGCCTGCTGAGCATCTGAA	0.458																																						ENST00000418177.2																			0				NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90						c.(589-591)Cag>Aag		glutamate receptor, metabotropic 5	Acamprosate(DB00659)						97.0	85.0	89.0					11																	88780452		2201	4299	6500	SO:0001583	missense	2915				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr11:88780452G>T	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.589C>A	11.37:g.88780452G>T	ENSP00000306138:p.Gln197Lys					GRM5_ENST00000393294.3_Missense_Mutation_p.Q197K|GRM5_ENST00000393297.1_Missense_Mutation_p.Q197K|GRM5_ENST00000305432.5_Missense_Mutation_p.Q197K|GRM5_ENST00000305447.4_Missense_Mutation_p.Q197K|GRM5_ENST00000455756.2_Missense_Mutation_p.Q197K	p.Q197K			P41594	GRM5_HUMAN			2	956	-		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	197					Q6J164	Missense_Mutation	SNP	ENST00000305447.4	37	c.589C>A	CCDS44694.1	.	.	.	.	.	.	.	.	.	.	G	15.40	2.823624	0.50739	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297;ENST00000393294	D;D;D;D;D;D	0.82344	-1.6;-1.6;-1.6;-1.6;-1.6;-1.6	5.41	5.41	0.78517	Extracellular ligand-binding receptor (1);	0.000000	0.85682	D	0.000000	D	0.87861	0.6284	L	0.48642	1.525	0.49051	D	0.99974	D;D;D	0.62365	0.961;0.991;0.983	P;D;P	0.63957	0.781;0.92;0.824	D	0.86428	0.1759	9	.	.	.	.	19.1996	0.93707	0.0:0.0:1.0:0.0	.	197;197;197	A8MT20;P41594-2;P41594	.;.;GRM5_HUMAN	K	197	ENSP00000402912:Q197K;ENSP00000405690:Q197K;ENSP00000305905:Q197K;ENSP00000306138:Q197K;ENSP00000376975:Q197K;ENSP00000376972:Q197K	.	Q	-	1	0	GRM5	88420100	1.000000	0.71417	1.000000	0.80357	0.916000	0.54674	7.900000	0.87376	2.508000	0.84585	0.563000	0.77884	CAG		0.458	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842		20	56	1	0	1.2644e-06	1	1.34563e-06	20	56				
SLC29A4	222962	broad.mit.edu	37	7	5330374	5330374	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:5330374C>T	ENST00000396872.3	+	3	342	c.181C>T	c.(181-183)Cca>Tca	p.P61S	SLC29A4_ENST00000297195.4_Missense_Mutation_p.P61S|SLC29A4_ENST00000406453.3_Missense_Mutation_p.P61S			Q7RTT9	S29A4_HUMAN	solute carrier family 29 (equilibrative nucleoside transporter), member 4	61					transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	nucleoside transmembrane transporter activity (GO:0005337)			breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20		Ovarian(82;0.0175)		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)	Metformin(DB00331)	ATTGGACGAGCCAGTGCCCGA	0.612																																						ENST00000396872.2																			0				breast(1)|cervix(2)|kidney(7)|large_intestine(1)|liver(1)|lung(7)|urinary_tract(1)	20						c.(181-183)Cca>Tca		solute carrier family 29 (equilibrative nucleoside transporter), member 4							99.0	75.0	83.0					7																	5330374		2203	4300	6503	SO:0001583	missense	222962				nucleobase, nucleoside and nucleotide metabolic process	apical plasma membrane|integral to membrane	nucleoside transmembrane transporter activity	g.chr7:5330374C>T	AK075422	CCDS5340.1, CCDS75561.1	7p22.2	2013-07-17	2013-07-17		ENSG00000164638	ENSG00000164638		"""Solute carriers"""	23097	protein-coding gene	gene with protein product		609149	"""solute carrier family 29 (nucleoside transporters), member 4"""			12838422	Standard	NM_153247		Approved	FLJ34923, ENT4	uc003soc.3	Q7RTT9	OTTHUMG00000023797	ENST00000396872.3:c.181C>T	7.37:g.5330374C>T	ENSP00000380081:p.Pro61Ser					SLC29A4_ENST00000297195.4_Missense_Mutation_p.P61S|SLC29A4_ENST00000406453.3_Missense_Mutation_p.P61S	p.P61S	NM_001040661.1|NM_153247.2	NP_001035751.1|NP_694979.2	Q7RTT9	S29A4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.0903)|OV - Ovarian serous cystadenocarcinoma(56;2.65e-15)	3	342	+		Ovarian(82;0.0175)	61					Q6PJ08|Q86WY8|Q8NAR3|Q8NBM2	Missense_Mutation	SNP	ENST00000396872.3	37	c.181C>T	CCDS5340.1	.	.	.	.	.	.	.	.	.	.	C	11.19	1.566770	0.28003	.	.	ENSG00000164638	ENST00000434816;ENST00000396872;ENST00000444741;ENST00000297195;ENST00000406453	T;T;T;T;T	0.48201	0.82;0.82;0.82;0.82;0.82	4.09	4.09	0.47781	Major facilitator superfamily domain, general substrate transporter (1);	0.141869	0.48286	D	0.000196	T	0.34571	0.0902	L	0.31926	0.97	0.44728	D	0.99772	B;B	0.29988	0.264;0.209	B;B	0.24006	0.05;0.037	T	0.13388	-1.0511	10	0.20046	T	0.44	-2.5659	14.5557	0.68100	0.0:1.0:0.0:0.0	.	61;61	Q7RTT9-2;Q7RTT9	.;S29A4_HUMAN	S	61	ENSP00000406803:P61S;ENSP00000380081:P61S;ENSP00000413271:P61S;ENSP00000297195:P61S;ENSP00000385845:P61S	ENSP00000297195:P61S	P	+	1	0	SLC29A4	5296900	1.000000	0.71417	0.866000	0.34008	0.419000	0.31324	2.630000	0.46494	1.834000	0.53371	0.556000	0.70494	CCA		0.612	SLC29A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000060118.6	NM_153247		31	47	0	0	0	1	0	31	47				
TAF1C	9013	broad.mit.edu	37	16	84213311	84213311	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr16:84213311C>T	ENST00000567759.1	-	14	2028	c.1846G>A	c.(1846-1848)Gac>Aac	p.D616N	TAF1C_ENST00000378541.4_Missense_Mutation_p.D616N|TAF1C_ENST00000570117.1_Missense_Mutation_p.D284N|TAF1C_ENST00000341690.6_Missense_Mutation_p.D522N|TAF1C_ENST00000541676.1_Missense_Mutation_p.D523N|TAF1C_ENST00000566732.1_Missense_Mutation_p.D590N	NM_005679.3	NP_005670	Q15572	TAF1C_HUMAN	TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa	616					gene expression (GO:0010467)|regulation of transcription, DNA-templated (GO:0006355)|termination of RNA polymerase I transcription (GO:0006363)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase I promoter (GO:0006360)|transcription from RNA polymerase II promoter (GO:0006366)|transcription initiation from RNA polymerase I promoter (GO:0006361)	nucleoplasm (GO:0005654)	DNA binding (GO:0003677)			endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						GGTTGGGTGTCGCCAGGAGGC	0.667																																						ENST00000567759.1																			0				endometrium(1)|kidney(3)|large_intestine(3)|lung(11)|ovary(3)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)	26						c.(1846-1848)Gac>Aac		TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kDa							14.0	16.0	15.0					16																	84213311		2195	4295	6490	SO:0001583	missense	9013				regulation of transcription, DNA-dependent|termination of RNA polymerase I transcription|transcription elongation from RNA polymerase I promoter|transcription from RNA polymerase II promoter|transcription initiation from RNA polymerase I promoter	nucleoplasm	DNA binding	g.chr16:84213311C>T	L39059	CCDS32496.1, CCDS45535.1, CCDS58488.1, CCDS58489.1	16q24	2008-02-05	2002-08-29			ENSG00000103168			11534	protein-coding gene	gene with protein product		604905	"""TATA box binding protein (TBP)-associated factor, RNA polymerase I, C, 110kD"""			7801123	Standard	NM_005679		Approved	TAFI110, TAFI95, SL1, MGC:39976	uc010vnx.2	Q15572		ENST00000567759.1:c.1846G>A	16.37:g.84213311C>T	ENSP00000455265:p.Asp616Asn					TAF1C_ENST00000570117.1_Missense_Mutation_p.D284N|TAF1C_ENST00000541676.1_Missense_Mutation_p.D523N|TAF1C_ENST00000378541.4_Missense_Mutation_p.D616N|TAF1C_ENST00000341690.6_Missense_Mutation_p.D522N|TAF1C_ENST00000566732.1_Missense_Mutation_p.D590N	p.D616N	NM_005679.3	NP_005670.3	Q15572	TAF1C_HUMAN			14	2028	-			616					B7Z5K5|B7Z5S4|B7Z908|B7Z9L7|Q59F67|Q8N6V3	Missense_Mutation	SNP	ENST00000567759.1	37	c.1846G>A	CCDS32496.1	.	.	.	.	.	.	.	.	.	.	C	13.96	2.392110	0.42410	.	.	ENSG00000103168	ENST00000378541;ENST00000541676;ENST00000341690;ENST00000544090	T;T;T	0.04360	3.75;3.64;3.64	3.72	0.182	0.15077	.	2.255010	0.01530	N	0.018752	T	0.04770	0.0129	L	0.29908	0.895	0.09310	N	1	P;P;P;P	0.52463	0.876;0.953;0.876;0.876	B;B;B;B	0.43990	0.246;0.438;0.246;0.246	T	0.33033	-0.9884	10	0.18276	T	0.48	-0.8746	3.5308	0.07775	0.0:0.5127:0.2095:0.2778	.	590;139;616;522	Q15572-6;F5H0H4;Q15572;Q15572-2	.;.;TAF1C_HUMAN;.	N	616;523;522;139	ENSP00000367802:D616N;ENSP00000437900:D523N;ENSP00000345305:D522N	ENSP00000345305:D522N	D	-	1	0	TAF1C	82770812	0.002000	0.14202	0.004000	0.12327	0.227000	0.25037	0.165000	0.16564	-0.275000	0.09219	0.561000	0.74099	GAC		0.667	TAF1C-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000433045.2	NM_139353		8	24	0	0	0	1	0	8	24				
ADAMTS19	171019	broad.mit.edu	37	5	129019947	129019947	+	Silent	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr5:129019947C>T	ENST00000274487.4	+	18	2926	c.2781C>T	c.(2779-2781)tgC>tgT	p.C927C	CTC-575N7.1_ENST00000503616.1_RNA	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	ADAM metallopeptidase with thrombospondin type 1 motif, 19	927	TSP type-1 2. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)		GGGAAGATTGCGATGCCACTT	0.403																																						ENST00000274487.4																			0				NS(1)|breast(4)|endometrium(10)|kidney(9)|large_intestine(14)|lung(34)|ovary(6)|pancreas(1)|prostate(6)|skin(6)	91						c.(2779-2781)tgC>tgT		ADAM metallopeptidase with thrombospondin type 1 motif, 19							80.0	77.0	78.0					5																	129019947		2203	4300	6503	SO:0001819	synonymous_variant	171019				proteolysis	proteinaceous extracellular matrix	metalloendopeptidase activity|zinc ion binding	g.chr5:129019947C>T	AJ311904	CCDS4146.1	5q23.3	2009-04-27	2005-08-19		ENSG00000145808	ENSG00000145808		"""ADAM metallopeptidases with thrombospondin type 1 motif"""	17111	protein-coding gene	gene with protein product		607513	"""a disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motif, 19"""			11867212	Standard	NM_133638		Approved		uc003kvb.1	Q8TE59	OTTHUMG00000128990	ENST00000274487.4:c.2781C>T	5.37:g.129019947C>T						CTC-575N7.1_ENST00000503616.1_RNA	p.C927C	NM_133638.3	NP_598377.3	Q8TE59	ATS19_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0186)|Kidney(363;0.0365)	OV - Ovarian serous cystadenocarcinoma(64;0.222)	18	2926	+		all_cancers(142;0.0148)|Prostate(80;0.0494)|Breast(839;0.238)	927			TSP type-1 2.			Silent	SNP	ENST00000274487.4	37	c.2781C>T	CCDS4146.1																																																																																				0.403	ADAMTS19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250979.2	NM_133638		17	30	0	0	0	1	0	17	30				
SELP	6403	broad.mit.edu	37	1	169581488	169581488	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:169581488C>T	ENST00000263686.6	-	6	965	c.928G>A	c.(928-930)Ggg>Agg	p.G310R	SELP_ENST00000367788.2_Intron|SELP_ENST00000367786.2_Missense_Mutation_p.G310R|SELP_ENST00000367791.2_Missense_Mutation_p.G310R|SELP_ENST00000367794.2_Missense_Mutation_p.G310R|SELP_ENST00000367792.2_Missense_Mutation_p.G310R|SELP_ENST00000458599.2_Missense_Mutation_p.G310R|SELP_ENST00000367793.2_Intron	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN	selectin P (granule membrane protein 140kDa, antigen CD62)	310	Sushi 2. {ECO:0000255|PROSITE- ProRule:PRU00302}.				blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|defense response to Gram-negative bacterium (GO:0050829)|heterophilic cell-cell adhesion (GO:0007157)|inflammatory response (GO:0006954)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte tethering or rolling (GO:0050901)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of leukocyte migration (GO:0002687)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of platelet activation (GO:0010572)|regulation of integrin activation (GO:0033623)|response to lipopolysaccharide (GO:0032496)	cytoplasm (GO:0005737)|external side of plasma membrane (GO:0009897)|extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|platelet alpha granule membrane (GO:0031092)|platelet dense granule membrane (GO:0031088)	fucose binding (GO:0042806)|glycosphingolipid binding (GO:0043208)|heparin binding (GO:0008201)|lipopolysaccharide binding (GO:0001530)|oligosaccharide binding (GO:0070492)|sialic acid binding (GO:0033691)			breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60	all_hematologic(923;0.208)				Dalteparin(DB06779)|Heparin(DB01109)|Nadroparin(DB08813)	GTCCATACCCCCGAGGCTGTG	0.488																																						ENST00000263686.6																			0				breast(1)|cervix(1)|endometrium(3)|kidney(3)|large_intestine(9)|lung(32)|ovary(4)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	60						c.(928-930)Ggg>Agg		selectin P (granule membrane protein 140kDa, antigen CD62)	Clopidogrel(DB00758)|Heparin(DB01109)|Tirofiban(DB00775)						132.0	107.0	115.0					1																	169581488		2203	4300	6503	SO:0001583	missense	6403				platelet activation|platelet degranulation|positive regulation of platelet activation	external side of plasma membrane|extracellular space|integral to plasma membrane|membrane fraction|platelet alpha granule membrane|platelet dense granule membrane|soluble fraction	fucose binding|glycosphingolipid binding|heparin binding|lipopolysaccharide binding|oligosaccharide binding|sialic acid binding	g.chr1:169581488C>T	BC068533	CCDS1282.1	1q22-q25	2008-02-05	2002-08-29		ENSG00000174175	ENSG00000174175		"""CD molecules"""	10721	protein-coding gene	gene with protein product		173610	"""selectin P (granule membrane protein 140kD, antigen CD62)"""	GRMP		1375831	Standard	NM_003005		Approved	CD62, PSEL, PADGEM, GMP140, CD62P	uc001ggi.4	P16109	OTTHUMG00000034685	ENST00000263686.6:c.928G>A	1.37:g.169581488C>T	ENSP00000263686:p.Gly310Arg					SELP_ENST00000367786.2_Missense_Mutation_p.G310R|SELP_ENST00000367788.2_Intron|SELP_ENST00000367793.2_Intron|SELP_ENST00000367792.2_Missense_Mutation_p.G310R|SELP_ENST00000367791.2_Missense_Mutation_p.G310R|SELP_ENST00000367794.2_Missense_Mutation_p.G310R|SELP_ENST00000458599.2_Missense_Mutation_p.G310R	p.G310R	NM_003005.3	NP_002996.2	P16109	LYAM3_HUMAN			6	965	-	all_hematologic(923;0.208)		310			Sushi 2.		Q5R344|Q8IVD1	Missense_Mutation	SNP	ENST00000263686.6	37	c.928G>A	CCDS1282.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	21.6|21.6	4.175924|4.175924	0.78564|0.78564	.|.	.|.	ENSG00000174175|ENSG00000174175	ENST00000446728|ENST00000367795;ENST00000367790;ENST00000426706;ENST00000367789;ENST00000263686;ENST00000544572;ENST00000367794;ENST00000367792;ENST00000367791;ENST00000367786;ENST00000458599	.|T;T;T;T;T;T	.|0.76709	.|0.2;0.2;0.2;0.2;0.2;-1.04	5.39|5.39	4.46|4.46	0.54185|0.54185	.|Complement control module (2);Sushi/SCR/CCP (3);	0.000000|0.000000	0.41294|0.41294	D|D	0.000907|0.000907	D|D	0.86012|0.86012	0.5831|0.5831	M|M	0.87097|0.87097	2.86|2.86	0.53005|0.53005	D|D	0.999966|0.999966	.|D;D;D	.|0.89917	.|1.0;0.998;1.0	.|D;D;D	.|0.97110	.|1.0;0.991;1.0	D|D	0.87764|0.87764	0.2600|0.2600	6|10	.|0.52906	.|T	.|0.07	.|.	13.2938|13.2938	0.60286|0.60286	0.0:0.9216:0.0:0.0784|0.0:0.9216:0.0:0.0784	.|.	.|310;310;310	.|Q6NUL9;P16109;G3V1U2	.|.;LYAM3_HUMAN;.	E|R	309|310;310;309;310;310;310;310;310;310;310;295	.|ENSP00000263686:G310R;ENSP00000356768:G310R;ENSP00000356766:G310R;ENSP00000356765:G310R;ENSP00000356760:G310R;ENSP00000399368:G295R	.|ENSP00000263686:G310R	G|G	-|-	2|1	0|0	SELP|SELP	167848112|167848112	0.996000|0.996000	0.38824|0.38824	0.019000|0.019000	0.16419|0.16419	0.928000|0.928000	0.56348|0.56348	4.746000|4.746000	0.62133|0.62133	1.234000|1.234000	0.43709|0.43709	0.650000|0.650000	0.86243|0.86243	GGG|GGG		0.488	SELP-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000083916.4	NM_003005		39	71	0	0	0	1	0	39	71				
ADAMTSL1	92949	broad.mit.edu	37	9	18504910	18504910	+	Silent	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr9:18504910C>T	ENST00000380548.4	+	2	486	c.147C>T	c.(145-147)tgC>tgT	p.C49C	ADAMTSL1_ENST00000431052.2_Silent_p.C49C|ADAMTSL1_ENST00000276935.6_Silent_p.C49C|ADAMTSL1_ENST00000380566.4_Silent_p.C49C|ADAMTSL1_ENST00000380570.4_Silent_p.C49C|ADAMTSL1_ENST00000327883.7_Silent_p.C49C	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN	ADAMTS-like 1	49	TSP type-1 1. {ECO:0000255|PROSITE- ProRule:PRU00210}.					proteinaceous extracellular matrix (GO:0005578)	metallopeptidase activity (GO:0008237)|zinc ion binding (GO:0008270)	p.C49C(2)		breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42				GBM - Glioblastoma multiforme(50;1.29e-17)		CACGCACCTGCGGGGGTGGGG	0.617																																						ENST00000380548.4																			2	Substitution - coding silent(2)	p.C49C(2)	ovary(2)	breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|liver(2)|lung(17)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	42						c.(145-147)tgC>tgT		ADAMTS-like 1							43.0	45.0	44.0					9																	18504910		2203	4300	6503	SO:0001819	synonymous_variant	92949					proteinaceous extracellular matrix	metallopeptidase activity|zinc ion binding	g.chr9:18504910C>T	AF176313	CCDS6485.1, CCDS47954.1	9p21.3	2013-01-11			ENSG00000178031	ENSG00000178031		"""Immunoglobulin superfamily / I-set domain containing"""	14632	protein-coding gene	gene with protein product	"""punctin"""	609198	"""chromosome 9 open reading frame 94"""	C9orf94		9628581, 11805097	Standard	NM_001040272		Approved	ADAMTSR1, FLJ35283	uc003zne.4	Q8N6G6	OTTHUMG00000019604	ENST00000380548.4:c.147C>T	9.37:g.18504910C>T						ADAMTSL1_ENST00000276935.6_Silent_p.C49C|ADAMTSL1_ENST00000327883.7_Silent_p.C49C|ADAMTSL1_ENST00000380570.4_Silent_p.C49C|ADAMTSL1_ENST00000380566.4_Silent_p.C49C|ADAMTSL1_ENST00000431052.2_Silent_p.C49C	p.C49C	NM_001040272.5	NP_001035362.3	Q8N6G6	ATL1_HUMAN		GBM - Glioblastoma multiforme(50;1.29e-17)	2	486	+			49			TSP type-1 1.		A6PVN1|A8K7E1|Q496M6|Q496M8|Q5T708|Q5VZT8|Q8NAI9|Q96RW4|Q9BXY3	Silent	SNP	ENST00000380548.4	37	c.147C>T	CCDS47954.1																																																																																				0.617	ADAMTSL1-012	NOVEL	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401206.1			16	46	0	0	0	1	0	16	46				
CCT6A	908	broad.mit.edu	37	7	56128584	56128584	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:56128584C>T	ENST00000275603.4	+	11	1517	c.1298C>T	c.(1297-1299)gCa>gTa	p.A433V	CCT6A_ENST00000540286.1_Missense_Mutation_p.A402V|CCT6A_ENST00000335503.3_Missense_Mutation_p.A388V|SNORA15_ENST00000384439.1_RNA|CCT6A_ENST00000462133.1_3'UTR	NM_001762.3	NP_001753.1	P40227	TCPZ_HUMAN	chaperonin containing TCP1, subunit 6A (zeta 1)	433					'de novo' posttranslational protein folding (GO:0051084)|binding of sperm to zona pellucida (GO:0007339)|cellular protein metabolic process (GO:0044267)|protein folding (GO:0006457)	acrosomal vesicle (GO:0001669)|cell body (GO:0044297)|chaperonin-containing T-complex (GO:0005832)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|microtubule (GO:0005874)|zona pellucida receptor complex (GO:0002199)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|unfolded protein binding (GO:0051082)			breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	15	Breast(14;0.214)		Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)			AAGGGCAGGGCACAGCTTGGA	0.493																																						ENST00000275603.4																			0				breast(1)|cervix(2)|endometrium(1)|large_intestine(4)|lung(5)|stomach(1)|upper_aerodigestive_tract(1)	15						c.(1297-1299)gCa>gTa		chaperonin containing TCP1, subunit 6A (zeta 1)							69.0	62.0	64.0					7																	56128584		2203	4300	6503	SO:0001583	missense	908				'de novo' posttranslational protein folding	cytosol	ATP binding|unfolded protein binding	g.chr7:56128584C>T	M94083	CCDS5523.1, CCDS34640.1	7p11.2	2011-09-02			ENSG00000146731	ENSG00000146731		"""Heat Shock Proteins / Chaperonins"""	1620	protein-coding gene	gene with protein product		104613		CCT6		1352881, 8034610	Standard	NM_001762		Approved	TTCP20, TCPZ, Cctz, HTR3, TCP20	uc003trl.1	P40227	OTTHUMG00000022842	ENST00000275603.4:c.1298C>T	7.37:g.56128584C>T	ENSP00000275603:p.Ala433Val					CCT6A_ENST00000540286.1_Missense_Mutation_p.A402V|CCT6A_ENST00000462133.1_3'UTR|CCT6A_ENST00000335503.3_Missense_Mutation_p.A388V	p.A433V	NM_001762.3	NP_001753.1	P40227	TCPZ_HUMAN	Lung(13;0.00024)|LUSC - Lung squamous cell carcinoma(13;0.00099)		11	1517	+	Breast(14;0.214)		433					A6NCD2|Q3KP28|Q75LP4|Q96S46	Missense_Mutation	SNP	ENST00000275603.4	37	c.1298C>T	CCDS5523.1	.	.	.	.	.	.	.	.	.	.	C	20.5	3.997113	0.74818	.	.	ENSG00000146731	ENST00000275603;ENST00000335503;ENST00000540286;ENST00000539340	T;T;T	0.78246	-1.16;-1.16;-1.16	5.44	5.44	0.79542	.	0.154856	0.56097	D	0.000023	T	0.76521	0.3999	L	0.60957	1.885	0.80722	D	1	B;B;B	0.12630	0.006;0.001;0.001	B;B;B	0.19148	0.024;0.012;0.006	T	0.72014	-0.4418	10	0.45353	T	0.12	-0.4561	18.236	0.89949	0.0:1.0:0.0:0.0	.	402;388;433	B4DPJ8;A6NCD2;P40227	.;.;TCPZ_HUMAN	V	433;388;402;291	ENSP00000275603:A433V;ENSP00000352019:A388V;ENSP00000438488:A402V	ENSP00000275603:A433V	A	+	2	0	CCT6A	56096078	1.000000	0.71417	1.000000	0.80357	0.908000	0.53690	4.666000	0.61554	2.544000	0.85801	0.563000	0.77884	GCA		0.493	CCT6A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251526.2	NM_001762		23	43	0	0	0	1	0	23	43				
ANO5	203859	broad.mit.edu	37	11	22294383	22294383	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:22294383C>T	ENST00000324559.8	+	19	2400	c.2083C>T	c.(2083-2085)Ctt>Ttt	p.L695F	ANO5_ENST00000532043.1_3'UTR	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN	anoctamin 5	695					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)|ion transmembrane transport (GO:0034220)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	intracellular calcium activated chloride channel activity (GO:0005229)			breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						TTTGGCTCCTCTTCTTGCTCT	0.378																																						ENST00000324559.8																			0				breast(2)|central_nervous_system(3)|endometrium(1)|kidney(2)|large_intestine(12)|lung(36)|ovary(1)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	63						c.(2083-2085)Ctt>Ttt		anoctamin 5							145.0	128.0	133.0					11																	22294383		2203	4300	6503	SO:0001583	missense	203859					chloride channel complex|endoplasmic reticulum membrane	chloride channel activity	g.chr11:22294383C>T	AL833271	CCDS31444.1	11p15.1	2014-09-17	2008-08-28	2008-08-28	ENSG00000171714	ENSG00000171714		"""Ion channels / Chloride channels : Calcium activated : Anoctamins"""	27337	protein-coding gene	gene with protein product		608662	"""transmembrane protein 16E"", ""limb girdle muscular dystrophy 2L (autosomal recessive)"""	TMEM16E, LGMD2L		15067359, 20096397, 24692353	Standard	NM_213599		Approved	GDD1	uc001mqi.2	Q75V66	OTTHUMG00000166051	ENST00000324559.8:c.2083C>T	11.37:g.22294383C>T	ENSP00000315371:p.Leu695Phe					ANO5_ENST00000532043.1_3'UTR	p.L695F	NM_001142649.1|NM_213599.2	NP_001136121.1|NP_998764.1	Q75V66	ANO5_HUMAN			19	2400	+			695						Missense_Mutation	SNP	ENST00000324559.8	37	c.2083C>T	CCDS31444.1	.	.	.	.	.	.	.	.	.	.	c	24.6	4.552497	0.86127	.	.	ENSG00000171714	ENST00000324559	T	0.67698	-0.28	5.57	5.57	0.84162	.	0.000000	0.85682	D	0.000000	T	0.80082	0.4558	L	0.58510	1.815	0.80722	D	1	D	0.89917	1.0	D	0.77557	0.99	T	0.77335	-0.2626	10	0.40728	T	0.16	.	19.9071	0.97012	0.0:1.0:0.0:0.0	.	695	Q75V66	ANO5_HUMAN	F	695	ENSP00000315371:L695F	ENSP00000315371:L695F	L	+	1	0	ANO5	22250959	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	4.007000	0.57093	2.776000	0.95493	0.651000	0.88453	CTT		0.378	ANO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387615.1	NM_213599		15	47	0	0	0	1	0	15	47				
GRM5	2915	broad.mit.edu	37	11	88241840	88241840	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:88241840A>G	ENST00000305447.4	-	9	3708	c.3559T>C	c.(3559-3561)Tcg>Ccg	p.S1187P	GRM5_ENST00000418177.2_Missense_Mutation_p.S1187P|GRM5_ENST00000305432.5_Missense_Mutation_p.S1155P|GRM5_ENST00000455756.2_Missense_Mutation_p.S1155P|GRM5-AS1_ENST00000526448.1_RNA|GRM5_ENST00000393297.1_Missense_Mutation_p.S917P	NM_001143831.2	NP_001137303.1	P41594	GRM5_HUMAN	glutamate receptor, metabotropic 5	1187					activation of MAPKKK activity (GO:0000185)|cognition (GO:0050890)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|G-protein coupled glutamate receptor signaling pathway (GO:0007216)|learning (GO:0007612)|locomotory behavior (GO:0007626)|negative regulation of locomotion (GO:0040013)|phospholipase C-activating G-protein coupled glutamate receptor signaling pathway (GO:0007206)|positive regulation of long-term neuronal synaptic plasticity (GO:0048170)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|protein phosphorylation (GO:0006468)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of transcription, DNA-templated (GO:0006355)|synaptic transmission (GO:0007268)	astrocyte projection (GO:0097449)|cytoplasm (GO:0005737)|dendritic shaft (GO:0043198)|dendritic spine (GO:0043197)|extracellular vesicular exosome (GO:0070062)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)			NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)			Acamprosate(DB00659)|Rufinamide(DB06201)	CAGAGGGCCGACTCGGACACT	0.587																																						ENST00000418177.2																			0				NS(1)|breast(5)|central_nervous_system(4)|endometrium(5)|kidney(3)|large_intestine(18)|lung(40)|ovary(3)|pancreas(1)|prostate(4)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(2)	90						c.(3559-3561)Tcg>Ccg		glutamate receptor, metabotropic 5	Acamprosate(DB00659)						25.0	28.0	27.0					11																	88241840		2200	4298	6498	SO:0001583	missense	2915				activation of phospholipase C activity by metabotropic glutamate receptor signaling pathway|synaptic transmission	integral to plasma membrane	G-protein coupled receptor activity|glutamate receptor activity	g.chr11:88241840A>G	D28538	CCDS8283.1, CCDS44694.1	11q14.3	2014-06-12			ENSG00000168959	ENSG00000168959		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4597	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 86"""	604102				7908515	Standard	NM_001143831		Approved	MGLUR5, GPRC1E, mGlu5, PPP1R86	uc001pcq.3	P41594	OTTHUMG00000134306	ENST00000305447.4:c.3559T>C	11.37:g.88241840A>G	ENSP00000306138:p.Ser1187Pro					GRM5_ENST00000393297.1_Missense_Mutation_p.S917P|GRM5_ENST00000305432.5_Missense_Mutation_p.S1155P|GRM5-AS1_ENST00000526448.1_RNA|GRM5_ENST00000305447.4_Missense_Mutation_p.S1187P|GRM5_ENST00000455756.2_Missense_Mutation_p.S1155P	p.S1187P			P41594	GRM5_HUMAN			10	3926	-		Acute lymphoblastic leukemia(157;2.54e-05)|all_hematologic(158;0.00834)	1187					Q6J164	Missense_Mutation	SNP	ENST00000305447.4	37	c.3559T>C	CCDS44694.1	.	.	.	.	.	.	.	.	.	.	A	13.39	2.222163	0.39300	.	.	ENSG00000168959	ENST00000418177;ENST00000455756;ENST00000305432;ENST00000305447;ENST00000393297	D;D;D;D;D	0.90197	-2.63;-2.59;-2.59;-2.63;-2.49	4.88	4.88	0.63580	Metabotropic glutamate receptor, Homer-binding domain (1);	0.343623	0.28630	N	0.014671	D	0.93210	0.7837	L	0.52573	1.65	0.30928	N	0.727232	P;D	0.59357	0.89;0.985	B;D	0.72338	0.444;0.977	D	0.91667	0.5347	9	.	.	.	.	14.5493	0.68054	1.0:0.0:0.0:0.0	.	1155;1187	P41594-2;P41594	.;GRM5_HUMAN	P	1187;1155;1155;1187;917	ENSP00000402912:S1187P;ENSP00000405690:S1155P;ENSP00000305905:S1155P;ENSP00000306138:S1187P;ENSP00000376975:S917P	.	S	-	1	0	GRM5	87881488	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	3.761000	0.55242	1.824000	0.53156	0.451000	0.29950	TCG		0.587	GRM5-005	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000259226.1	NM_000842		17	32	0	0	0	1	0	17	32				
MATN1	4146	broad.mit.edu	37	1	31191679	31191679	+	Silent	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:31191679C>T	ENST00000373765.4	-	3	602	c.567G>A	c.(565-567)cgG>cgA	p.R189R	MATN1-AS1_ENST00000414532.2_RNA|MATN1_ENST00000477320.1_5'UTR|MATN1-AS1_ENST00000454613.1_RNA|MATN1-AS1_ENST00000414763.1_RNA	NM_002379.3	NP_002370.1	P21941	MATN1_HUMAN	matrilin 1, cartilage matrix protein	189	VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				extracellular matrix organization (GO:0030198)|growth plate cartilage chondrocyte morphogenesis (GO:0003429)|protein complex assembly (GO:0006461)|regulation of bone mineralization (GO:0030500)	extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix structural constituent (GO:0005201)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	12		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)		TGGCGATCTGCCGCAGCGTGG	0.672																																						ENST00000373765.4																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|prostate(1)|upper_aerodigestive_tract(1)	12						c.(565-567)cgG>cgA		matrilin 1, cartilage matrix protein							29.0	27.0	28.0					1																	31191679		2200	4298	6498	SO:0001819	synonymous_variant	4146				protein complex assembly	proteinaceous extracellular matrix	extracellular matrix structural constituent|protein binding	g.chr1:31191679C>T	M55675	CCDS336.1	1p35	2008-02-05			ENSG00000162510	ENSG00000162510			6907	protein-coding gene	gene with protein product		115437		CRTM, CMP		2246248, 9083061	Standard	NM_002379		Approved		uc001brz.3	P21941	OTTHUMG00000003705	ENST00000373765.4:c.567G>A	1.37:g.31191679C>T						MATN1-AS1_ENST00000414763.1_RNA|MATN1-AS1_ENST00000414532.2_RNA|MATN1_ENST00000477320.1_5'UTR|MATN1-AS1_ENST00000454613.1_RNA	p.R189R	NM_002379.3	NP_002370.1	P21941	MATN1_HUMAN		Colorectal(126;1.29e-05)|COAD - Colon adenocarcinoma(152;0.000726)|STAD - Stomach adenocarcinoma(196;0.0183)|READ - Rectum adenocarcinoma(331;0.0649)	3	602	-		Colorectal(325;0.00792)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)|Ovarian(437;0.0563)|Breast(348;0.0848)|Medulloblastoma(700;0.123)	189			VWFA 1.		B2R7E3|Q5TBB9	Silent	SNP	ENST00000373765.4	37	c.567G>A	CCDS336.1																																																																																				0.672	MATN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000010458.1	NM_002379		14	24	0	0	0	1	0	14	24				
ALG5	29880	broad.mit.edu	37	13	37539850	37539850	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr13:37539850C>A	ENST00000239891.3	-	8	701	c.635G>T	c.(634-636)cGt>cTt	p.R212L	ALG5_ENST00000443765.1_Missense_Mutation_p.R182L|ALG5_ENST00000413537.2_3'UTR	NM_013338.4	NP_037470.1	Q9Y673	ALG5_HUMAN	ALG5, dolichyl-phosphate beta-glucosyltransferase	212					cellular protein metabolic process (GO:0044267)|determination of left/right symmetry (GO:0007368)|dolichol-linked oligosaccharide biosynthetic process (GO:0006488)|post-translational protein modification (GO:0043687)|protein glycosylation (GO:0006486)|protein N-linked glycosylation via asparagine (GO:0018279)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	dolichyl-phosphate beta-glucosyltransferase activity (GO:0004581)|oligosaccharyl transferase activity (GO:0004576)	p.R212H(1)		breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)		all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472)		GAGAAGAGTACGGAAGTAAGA	0.393																																						ENST00000239891.3																			1	Substitution - Missense(1)	p.R212H(1)	large_intestine(1)	breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)	11						c.(634-636)cGt>cTt		ALG5, dolichyl-phosphate beta-glucosyltransferase							89.0	88.0	88.0					13																	37539850		2203	4300	6503	SO:0001583	missense	29880				dolichol-linked oligosaccharide biosynthetic process|post-translational protein modification|protein N-linked glycosylation via asparagine	endoplasmic reticulum membrane|integral to membrane	dolichyl-phosphate beta-glucosyltransferase activity|oligosaccharyl transferase activity	g.chr13:37539850C>A	AF088028	CCDS9361.1, CCDS45033.1	13q13.1	2013-02-22	2013-02-21		ENSG00000120697	ENSG00000120697	2.4.1.117	"""Glycosyltransferase family 2 domain containing"""	20266	protein-coding gene	gene with protein product		604565	"""asparagine-linked glycosylation 5 homolog (yeast, dolichyl-phosphate beta-glucosyltransferase)"", ""asparagine-linked glycosylation 5, dolichyl-phosphate beta-glucosyltransferase homolog (S. cerevisiae)"""			10359825	Standard	NM_013338		Approved	bA421P11.2	uc001uvy.3	Q9Y673	OTTHUMG00000016741	ENST00000239891.3:c.635G>T	13.37:g.37539850C>A	ENSP00000239891:p.Arg212Leu					ALG5_ENST00000413537.2_3'UTR|ALG5_ENST00000443765.1_Missense_Mutation_p.R182L	p.R212L	NM_013338.4	NP_037470.1	Q9Y673	ALG5_HUMAN		all cancers(112;5.79e-07)|Epithelial(112;1.81e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00785)|BRCA - Breast invasive adenocarcinoma(63;0.0127)|GBM - Glioblastoma multiforme(144;0.0472)	8	701	-		Breast(139;0.014)|Lung SC(185;0.0548)|Prostate(109;0.174)	212					B4DR37|Q5TBA6	Missense_Mutation	SNP	ENST00000239891.3	37	c.635G>T	CCDS9361.1	.	.	.	.	.	.	.	.	.	.	C	33	5.193462	0.94960	.	.	ENSG00000120697	ENST00000443765;ENST00000239891	T;T	0.61040	0.14;0.14	5.82	5.82	0.92795	.	0.000000	0.85682	D	0.000000	D	0.82820	0.5120	M	0.92367	3.3	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.81914	0.995;0.99	D	0.86125	0.1571	10	0.87932	D	0	.	20.093	0.97828	0.0:1.0:0.0:0.0	.	182;212	Q9Y673-2;Q9Y673	.;ALG5_HUMAN	L	182;212	ENSP00000390533:R182L;ENSP00000239891:R212L	ENSP00000239891:R212L	R	-	2	0	ALG5	36437850	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.592000	0.82676	2.756000	0.94617	0.561000	0.74099	CGT		0.393	ALG5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044528.2	NM_013338		17	47	1	0	5.03518e-11	1	5.60073e-11	17	47				
JMJD1C	221037	broad.mit.edu	37	10	64977085	64977085	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr10:64977085T>C	ENST00000399262.2	-	5	778	c.560A>G	c.(559-561)tAt>tGt	p.Y187C	JMJD1C_ENST00000399251.1_5'UTR|JMJD1C_ENST00000489372.2_5'UTR|JMJD1C_ENST00000542921.1_Missense_Mutation_p.Y5C|JMJD1C_ENST00000402544.1_5'UTR	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN	jumonji domain containing 1C	187					blood coagulation (GO:0007596)|chromatin modification (GO:0016568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	intracellular (GO:0005622)|nucleoplasm (GO:0005654)	dioxygenase activity (GO:0051213)|metal ion binding (GO:0046872)|thyroid hormone receptor binding (GO:0046966)			breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77	Prostate(12;0.0119)|all_hematologic(501;0.191)					ATTTAAGGAATAAGGACCTTA	0.363																																						ENST00000399262.2																			0				breast(2)|central_nervous_system(2)|cervix(1)|endometrium(8)|kidney(8)|large_intestine(9)|lung(27)|ovary(6)|prostate(4)|skin(4)|stomach(3)|upper_aerodigestive_tract(3)	77						c.(559-561)tAt>tGt		jumonji domain containing 1C							74.0	74.0	74.0					10																	64977085		1843	4087	5930	SO:0001583	missense	221037				blood coagulation|regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleoplasm	histone demethylase activity (H3-K9 specific)|metal ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|thyroid hormone receptor binding	g.chr10:64977085T>C	L40411	CCDS41532.1, CCDS60538.1	10q22.1	2011-05-25	2004-03-31	2004-04-01	ENSG00000171988	ENSG00000171988			12313	protein-coding gene	gene with protein product		604503	"""thyroid hormone receptor interactor 8"""	TRIP8		7776974	Standard	XM_005269624		Approved	DKFZp761F0118, KIAA1380, FLJ14374	uc001jmn.3	Q15652	OTTHUMG00000018311	ENST00000399262.2:c.560A>G	10.37:g.64977085T>C	ENSP00000382204:p.Tyr187Cys					JMJD1C_ENST00000399251.1_5'UTR|JMJD1C_ENST00000542921.1_Missense_Mutation_p.Y5C|JMJD1C_ENST00000489372.2_5'UTR|JMJD1C_ENST00000402544.1_5'UTR	p.Y187C	NM_032776.1	NP_116165.1	Q15652	JHD2C_HUMAN			5	778	-	Prostate(12;0.0119)|all_hematologic(501;0.191)		187					A0T124|Q5SQZ8|Q5SQZ9|Q5SR00|Q7Z3E7|Q8N3U0|Q96KB9|Q9P2G7	Missense_Mutation	SNP	ENST00000399262.2	37	c.560A>G	CCDS41532.1	.	.	.	.	.	.	.	.	.	.	T	6.737	0.504844	0.12822	.	.	ENSG00000171988	ENST00000399262;ENST00000542921	T;T	0.50548	0.78;0.74	5.74	4.59	0.56863	.	0.082681	0.50627	U	0.000103	T	0.33323	0.0859	N	0.19112	0.55	0.80722	D	1	B	0.25521	0.128	B	0.23275	0.045	T	0.07597	-1.0764	10	0.42905	T	0.14	-11.4979	12.9985	0.58662	0.0:0.0:0.135:0.865	.	187	Q15652	JHD2C_HUMAN	C	187;5	ENSP00000382204:Y187C;ENSP00000444682:Y5C	ENSP00000382204:Y187C	Y	-	2	0	JMJD1C	64647091	1.000000	0.71417	1.000000	0.80357	0.149000	0.21700	4.835000	0.62781	0.981000	0.38548	-0.472000	0.04984	TAT		0.363	JMJD1C-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000048249.2	NM_004241		12	30	0	0	0	1	0	12	30				
PNPLA6	10908	broad.mit.edu	37	19	7619527	7619527	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:7619527C>T	ENST00000221249.6	+	24	2869	c.2438C>T	c.(2437-2439)aCg>aTg	p.T813M	PNPLA6_ENST00000545201.2_Missense_Mutation_p.T786M|PNPLA6_ENST00000600737.1_Missense_Mutation_p.T851M|PNPLA6_ENST00000450331.3_Missense_Mutation_p.T813M|PNPLA6_ENST00000414982.3_Missense_Mutation_p.T861M	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN	patatin-like phospholipase domain containing 6	852					angiogenesis (GO:0001525)|cell death (GO:0008219)|lipid catabolic process (GO:0016042)|organ morphogenesis (GO:0009887)|phosphatidylcholine metabolic process (GO:0046470)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|membrane (GO:0016020)	lysophospholipase activity (GO:0004622)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						GCCTCGCTGACGCCCTGGACC	0.672																																						ENST00000221249.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(14)|ovary(3)|stomach(1)|upper_aerodigestive_tract(1)	35						c.(2437-2439)aCg>aTg		patatin-like phospholipase domain containing 6							82.0	73.0	76.0					19																	7619527		2203	4300	6503	SO:0001583	missense	10908				cell death|lipid catabolic process|phosphatidylcholine metabolic process	endoplasmic reticulum membrane|integral to membrane	lysophospholipase activity	g.chr19:7619527C>T	AJ004832	CCDS32891.1, CCDS54206.1, CCDS54207.1, CCDS59343.1	19p13.2	2013-09-11						"""Patatin-like phospholipase domain containing"""	16268	protein-coding gene	gene with protein product	"""neuropathy target esterase"""	603197				9576844, 16799181, 19029121	Standard	NM_006702		Approved	NTE, sws, iPLA2delta, SPG39	uc010xjq.2	Q8IY17		ENST00000221249.6:c.2438C>T	19.37:g.7619527C>T	ENSP00000221249:p.Thr813Met					PNPLA6_ENST00000545201.2_Missense_Mutation_p.T786M|PNPLA6_ENST00000450331.3_Missense_Mutation_p.T813M|PNPLA6_ENST00000414982.3_Missense_Mutation_p.T861M|PNPLA6_ENST00000600737.1_Missense_Mutation_p.T851M	p.T813M	NM_006702.4	NP_006693.3	Q8IY17	PLPL6_HUMAN			24	2869	+			852					A6NGQ0|B4DFB9|B7Z7T2|F5H5K9|J3KQS3|O60859|Q86W58|Q9UG58	Missense_Mutation	SNP	ENST00000221249.6	37	c.2438C>T	CCDS32891.1	.	.	.	.	.	.	.	.	.	.	c	18.73	3.687449	0.68157	.	.	ENSG00000032444	ENST00000221249;ENST00000545201;ENST00000414982;ENST00000450331	T;T;T;T	0.25912	1.77;1.77;1.77;1.77	4.98	4.98	0.66077	.	0.107337	0.64402	D	0.000005	T	0.59972	0.2233	M	0.91090	3.175	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.999;1.0;1.0;0.997	T	0.69548	-0.5116	10	0.87932	D	0	-10.1521	15.8384	0.78818	0.0:1.0:0.0:0.0	.	852;786;851;813	Q8IY17;F5H5K9;Q8IY17-3;Q8IY17-2	PLPL6_HUMAN;.;.;.	M	813;786;861;813	ENSP00000221249:T813M;ENSP00000443323:T786M;ENSP00000407509:T861M;ENSP00000394348:T813M	ENSP00000221249:T813M	T	+	2	0	PNPLA6	7525527	1.000000	0.71417	1.000000	0.80357	0.065000	0.16274	7.597000	0.82733	2.591000	0.87537	0.555000	0.69702	ACG		0.672	PNPLA6-001	KNOWN	NAGNAG_splice_site|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000459275.1	NM_006702		32	88	0	0	0	1	0	32	88				
WDFY3	23001	broad.mit.edu	37	4	85645602	85645602	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr4:85645602T>C	ENST00000295888.4	-	46	7825	c.7418A>G	c.(7417-7419)gAa>gGa	p.E2473G	WDFY3_ENST00000322366.6_Missense_Mutation_p.E2456G	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2473	Sufficient for translocalization to p62 bodies/ALIS.				aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		AATAGTGTCTTCCCCATGCTC	0.428																																						ENST00000322366.6																			0				breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(7366-7368)gAa>gGa		WD repeat and FYVE domain containing 3							151.0	144.0	147.0					4																	85645602		2203	4300	6503	SO:0001583	missense	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85645602T>C	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.7418A>G	4.37:g.85645602T>C	ENSP00000295888:p.Glu2473Gly					WDFY3_ENST00000295888.4_Missense_Mutation_p.E2473G	p.E2456G			Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	45	7774	-		Hepatocellular(203;0.114)	2473					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	c.7367A>G	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	T	18.14	3.556942	0.65425	.	.	ENSG00000163625	ENST00000322366;ENST00000295888;ENST00000514711	T;T;T	0.66280	-0.2;-0.16;-0.14	6.07	6.07	0.98685	.	0.046762	0.85682	D	0.000000	T	0.54775	0.1879	L	0.44542	1.39	0.80722	D	1	P	0.39216	0.664	B	0.35353	0.201	T	0.54337	-0.8309	10	0.32370	T	0.25	.	16.6407	0.85098	0.0:0.0:0.0:1.0	.	2473	Q8IZQ1	WDFY3_HUMAN	G	2456;2473;76	ENSP00000318466:E2456G;ENSP00000295888:E2473G;ENSP00000424987:E76G	ENSP00000295888:E2473G	E	-	2	0	WDFY3	85864626	1.000000	0.71417	0.958000	0.39756	0.446000	0.32137	7.950000	0.87804	2.326000	0.78906	0.533000	0.62120	GAA		0.428	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		55	122	0	0	0	1	0	55	122				
UBAP2L	9898	broad.mit.edu	37	1	154197682	154197682	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:154197682G>A	ENST00000361546.2	+	1	125	c.83G>A	c.(82-84)cGg>cAg	p.R28Q	UBAP2L_ENST00000428931.1_Missense_Mutation_p.R28Q|UBAP2L_ENST00000271877.7_Missense_Mutation_p.R28Q|UBAP2L_ENST00000343815.6_Missense_Mutation_p.R28Q			Q14157	UBP2L_HUMAN	ubiquitin associated protein 2-like	28					binding of sperm to zona pellucida (GO:0007339)		poly(A) RNA binding (GO:0044822)			NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		LUSC - Lung squamous cell carcinoma(543;0.185)			CACAAGCAGCGGCCACAGGTA	0.463																																						ENST00000428931.1																			0				NS(2)|breast(7)|central_nervous_system(1)|endometrium(7)|kidney(1)|large_intestine(8)|lung(20)|ovary(1)|prostate(1)|urinary_tract(2)	50						c.(82-84)cGg>cAg		ubiquitin associated protein 2-like							132.0	107.0	115.0					1																	154197682		2203	4300	6503	SO:0001583	missense	9898				binding of sperm to zona pellucida		protein binding	g.chr1:154197682G>A	BC003170	CCDS1063.1, CCDS44229.1, CCDS72925.1	1q21.3	2008-02-05			ENSG00000143569	ENSG00000143569			29877	protein-coding gene	gene with protein product						8590280, 11230159	Standard	NM_014847		Approved	NICE-4, KIAA0144	uc001fep.4	Q14157	OTTHUMG00000035983	ENST00000361546.2:c.83G>A	1.37:g.154197682G>A	ENSP00000355343:p.Arg28Gln					UBAP2L_ENST00000271877.7_Missense_Mutation_p.R28Q|UBAP2L_ENST00000361546.2_Missense_Mutation_p.R28Q|UBAP2L_ENST00000343815.6_Missense_Mutation_p.R28Q	p.R28Q	NM_014847.3	NP_055662.3	Q14157	UBP2L_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.185)		2	250	+	all_lung(78;1.09e-30)|Lung NSC(65;1.66e-28)|Hepatocellular(266;0.0877)		28					B4E0U8|Q5VU75|Q5VU76|Q9BTU3|Q9UGL2|Q9UGL3|Q9UGL4|Q9UGL5	Missense_Mutation	SNP	ENST00000361546.2	37	c.83G>A	CCDS1063.1	.	.	.	.	.	.	.	.	.	.	G	25.2	4.614575	0.87359	.	.	ENSG00000143569	ENST00000343815;ENST00000428931;ENST00000441890;ENST00000271877;ENST00000412596;ENST00000368504;ENST00000437652;ENST00000456325;ENST00000361546	T;T;T;T;T;T;T;T;T	0.28454	1.61;1.61;1.61;1.61;1.61;1.61;1.61;1.61;1.61	5.35	5.35	0.76521	UBA-like (1);	0.000000	0.85682	D	0.000000	T	0.21674	0.0522	N	0.05306	-0.075	0.54753	D	0.999985	P;D;D;D	0.71674	0.709;0.998;0.998;0.997	B;D;D;D	0.72982	0.17;0.979;0.979;0.968	T	0.13872	-1.0493	10	0.13853	T	0.58	-11.3659	18.2298	0.89931	0.0:0.0:1.0:0.0	.	28;28;28;28	F8W726;Q14157-4;Q14157-1;Q14157	.;.;.;UBP2L_HUMAN	Q	28	ENSP00000345308:R28Q;ENSP00000389445:R28Q;ENSP00000399920:R28Q;ENSP00000271877:R28Q;ENSP00000389052:R28Q;ENSP00000357490:R28Q;ENSP00000389717:R28Q;ENSP00000415310:R28Q;ENSP00000355343:R28Q	ENSP00000271877:R28Q	R	+	2	0	UBAP2L	152464306	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	9.145000	0.94634	2.785000	0.95823	0.655000	0.94253	CGG		0.463	UBAP2L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087673.1	NM_014847		18	43	0	0	0	1	0	18	43				
DOCK1	1793	broad.mit.edu	37	10	128776216	128776216	+	Missense_Mutation	SNP	G	G	C	rs553053974		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr10:128776216G>C	ENST00000280333.6	+	3	244	c.135G>C	c.(133-135)tgG>tgC	p.W45C		NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN	dedicator of cytokinesis 1	45	SH3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				apoptotic process (GO:0006915)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|cell migration (GO:0016477)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|hematopoietic progenitor cell differentiation (GO:0002244)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|phagocytosis, engulfment (GO:0006911)|positive regulation of GTPase activity (GO:0043547)|signal transduction (GO:0007165)|small GTPase mediated signal transduction (GO:0007264)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)	GTPase activator activity (GO:0005096)|guanyl-nucleotide exchange factor activity (GO:0005085)			NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)		GTTTAGGGTGGTACCGAGGTT	0.388																																						ENST00000280333.6																			0				NS(2)|breast(1)|central_nervous_system(7)|endometrium(13)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(10)|lung(15)|ovary(4)|prostate(3)|stomach(2)|upper_aerodigestive_tract(5)|urinary_tract(1)	72						c.(133-135)tgG>tgC		dedicator of cytokinesis 1							285.0	280.0	282.0					10																	128776216		1901	4125	6026	SO:0001583	missense	1793				apoptosis|axon guidance|blood coagulation|integrin-mediated signaling pathway|phagocytosis, engulfment|small GTPase mediated signal transduction	cytosol|membrane	GTP binding|GTPase activator activity|GTPase binding|guanyl-nucleotide exchange factor activity|SH3 domain binding	g.chr10:128776216G>C	D50857	CCDS73222.1	10q26.13-q26.3	2009-10-28			ENSG00000150760	ENSG00000150760			2987	protein-coding gene	gene with protein product	"""DOwnstream of CrK"""	601403	"""dedicator of cyto-kinesis 1"""			8657152, 8661160	Standard	XM_006717681		Approved	DOCK180, ced5	uc001ljt.3	Q14185	OTTHUMG00000019249	ENST00000280333.6:c.135G>C	10.37:g.128776216G>C	ENSP00000280333:p.Trp45Cys						p.W45C	NM_001380.3	NP_001371.1	Q14185	DOCK1_HUMAN		BRCA - Breast invasive adenocarcinoma(275;0.0221)|Colorectal(40;0.115)	3	244	+		all_epithelial(44;2.3e-07)|all_lung(145;0.00466)|Lung NSC(174;0.00685)|Colorectal(57;0.0107)|Renal(717;0.0113)|Breast(234;0.0492)|all_neural(114;0.108)|all_hematologic(284;0.14)	45			SH3.		A9Z1Z5	Missense_Mutation	SNP	ENST00000280333.6	37	c.135G>C		.	.	.	.	.	.	.	.	.	.	G	17.34	3.364317	0.61513	.	.	ENSG00000150760	ENST00000280333	T	0.75589	-0.95	5.12	5.12	0.69794	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	D	0.91932	0.7445	H	0.98901	4.365	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.94949	0.8098	10	0.87932	D	0	.	16.1103	0.81259	0.0:0.0:1.0:0.0	.	45;45	B2RUU3;Q14185	.;DOCK1_HUMAN	C	45	ENSP00000280333:W45C	ENSP00000280333:W45C	W	+	3	0	DOCK1	128666206	1.000000	0.71417	1.000000	0.80357	0.760000	0.43138	6.098000	0.71458	2.542000	0.85734	0.655000	0.94253	TGG		0.388	DOCK1-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000050979.2	NM_001380		45	96	0	0	0	1	0	45	96				
GABRA5	2558	broad.mit.edu	37	15	27128606	27128606	+	Silent	SNP	G	G	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr15:27128606G>C	ENST00000335625.5	+	6	1287	c.399G>C	c.(397-399)acG>acC	p.T133T	GABRA5_ENST00000355395.5_Silent_p.T133T|GABRA5_ENST00000557449.1_Intron|GABRB3_ENST00000541819.2_Intron|GABRA5_ENST00000400081.3_Silent_p.T133T	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN	gamma-aminobutyric acid (GABA) A receptor, alpha 5	133					associative learning (GO:0008306)|behavioral fear response (GO:0001662)|brain development (GO:0007420)|cochlea development (GO:0090102)|gamma-aminobutyric acid signaling pathway (GO:0007214)|inner ear receptor cell development (GO:0060119)|innervation (GO:0060384)|ion transmembrane transport (GO:0034220)|negative regulation of neuron apoptotic process (GO:0043524)|sensory perception of sound (GO:0007605)|signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|dendrite (GO:0030425)|integral component of plasma membrane (GO:0005887)|neuronal cell body membrane (GO:0032809)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)|receptor activity (GO:0004872)|transporter activity (GO:0005215)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amobarbital(DB01351)|Amoxapine(DB00543)|Aprobarbital(DB01352)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Butethal(DB01353)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Heptabarbital(DB01354)|Hexobarbital(DB01355)|Isoflurane(DB00753)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methylphenobarbital(DB00849)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Secobarbital(DB00418)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Thiopental(DB00599)|Topiramate(DB00273)|Triazolam(DB00897)|Zopiclone(DB01198)	CCCCAGACACGTTCTTCCACA	0.577																																						ENST00000335625.5																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(26)|ovary(1)|upper_aerodigestive_tract(1)	49						c.(397-399)acG>acC		gamma-aminobutyric acid (GABA) A receptor, alpha 5	Alprazolam(DB00404)|Ethchlorvynol(DB00189)|Flunitrazepam(DB01544)|Flurazepam(DB00690)|Lorazepam(DB00186)|Meprobamate(DB00371)|Midazolam(DB00683)						73.0	81.0	78.0					15																	27128606		2198	4298	6496	SO:0001819	synonymous_variant	2558				gamma-aminobutyric acid signaling pathway|synaptic transmission	cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr15:27128606G>C		CCDS45194.1	15q12	2012-06-22			ENSG00000186297	ENSG00000186297		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4079	protein-coding gene	gene with protein product	"""GABA(A) receptor, alpha 5"""	137142				1321750	Standard	NM_000810		Approved		uc021sgi.1	P31644	OTTHUMG00000171824	ENST00000335625.5:c.399G>C	15.37:g.27128606G>C						GABRB3_ENST00000541819.2_Intron|GABRA5_ENST00000355395.5_Silent_p.T133T|GABRA5_ENST00000400081.3_Silent_p.T133T|GABRA5_ENST00000557449.1_Intron	p.T133T	NM_000810.3	NP_000801.1	P31644	GBRA5_HUMAN		all cancers(64;1.45e-08)|Epithelial(43;4.96e-08)|BRCA - Breast invasive adenocarcinoma(123;0.0232)|Lung(196;0.182)	6	1287	+		all_lung(180;4.59e-13)|Breast(32;0.000563)|Colorectal(260;0.227)	133					A8K338|Q14DC2|Q53XL6|Q9NYT3|Q9NYT4|Q9NYT5	Silent	SNP	ENST00000335625.5	37	c.399G>C	CCDS45194.1																																																																																				0.577	GABRA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000415234.1			29	61	0	0	0	1	0	29	61				
HLA-G	3135	broad.mit.edu	37	6	29797377	29797377	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr6:29797377T>C	ENST00000360323.6	+	4	826	c.802T>C	c.(802-804)Tgg>Cgg	p.W268R	HLA-G_ENST00000376828.2_Missense_Mutation_p.W273R|HLA-G_ENST00000428701.1_Missense_Mutation_p.W268R|HLA-G_ENST00000376818.3_Missense_Mutation_p.W176R|HLA-G_ENST00000376815.3_Intron			P17693	HLAG_HUMAN	major histocompatibility complex, class I, G	268	Alpha-3.|Ig-like C1-type.				antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	early endosome membrane (GO:0031901)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						CTTCCAGAAGTGGGCAGCTGT	0.617																																						ENST00000428701.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						c.(802-804)Tgg>Cgg		major histocompatibility complex, class I, G							65.0	59.0	61.0					6																	29797377		2203	4297	6500	SO:0001583	missense	3135				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29797377T>C		CCDS4668.1	6p21.3	2013-01-11	2007-12-12		ENSG00000204632	ENSG00000204632		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4964	protein-coding gene	gene with protein product	"""b2 microglobulin"""	142871	"""HLA-G histocompatibility antigen, class I, G"""				Standard	NM_002127		Approved		uc003nnw.2	P17693	OTTHUMG00000031157	ENST00000360323.6:c.802T>C	6.37:g.29797377T>C	ENSP00000353472:p.Trp268Arg					HLA-G_ENST00000376815.3_Intron|HLA-G_ENST00000360323.6_Missense_Mutation_p.W268R|HLA-G_ENST00000376818.3_Missense_Mutation_p.W176R|HLA-G_ENST00000376828.2_Missense_Mutation_p.W273R	p.W268R	NM_002127.5	NP_002118.1	P17693	HLAG_HUMAN			5	980	+			268			Alpha-3.|Ig-like C1-type.			Missense_Mutation	SNP	ENST00000360323.6	37	c.802T>C	CCDS4668.1	.	.	.	.	.	.	.	.	.	.	.	9.750	1.167168	0.21621	.	.	ENSG00000204632	ENST00000376828;ENST00000428701;ENST00000360323;ENST00000376818	T;T;T;T	0.13307	2.6;2.6;2.6;4.22	1.7	1.7	0.24286	Immunoglobulin-like (1);Immunoglobulin C1-set (2);Immunoglobulin-like fold (1);	0.686384	0.12014	U	0.507617	T	0.17789	0.0427	M	0.74389	2.26	0.24571	N	0.993929	D;D;D	0.89917	1.0;0.967;1.0	D;P;D	0.97110	1.0;0.689;1.0	T	0.06516	-1.0822	10	0.87932	D	0	.	3.8875	0.09105	0.327:0.0:0.0:0.673	.	273;176;268	Q5RJ85;Q31611;P17693	.;.;HLAG_HUMAN	R	273;268;268;176	ENSP00000366024:W273R;ENSP00000412927:W268R;ENSP00000353472:W268R;ENSP00000366014:W176R	ENSP00000353472:W268R	W	+	1	0	HLA-G	29905356	1.000000	0.71417	0.834000	0.33040	0.288000	0.27193	1.175000	0.31944	0.787000	0.33731	0.242000	0.17961	TGG		0.617	HLA-G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076286.2	NM_002127		56	104	0	0	0	1	0	56	104				
MPLKIP	136647	broad.mit.edu	37	7	40174042	40174042	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:40174042C>G	ENST00000306984.6	-	1	216	c.125G>C	c.(124-126)cGa>cCa	p.R42P	C7orf10_ENST00000309930.5_5'Flank|C7orf10_ENST00000335693.4_5'Flank|C7orf10_ENST00000401647.2_5'Flank|C7orf10_ENST00000540834.1_5'Flank	NM_138701.3	NP_619646.1	Q8TAP9	MPLKI_HUMAN	M-phase specific PLK1 interacting protein	42					mitotic nuclear division (GO:0007067)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)											GTACCCGTCTCGAGGGGAGGG	0.731																																						ENST00000306984.5																			0											c.(124-126)cGa>cCa		M-phase specific PLK1 interacting protein							3.0	4.0	4.0					7																	40174042		1909	3886	5795	SO:0001583	missense	136647				cell division|mitosis	microtubule organizing center|nucleus		g.chr7:40174042C>G	AX048113	CCDS5463.1	7p14	2014-09-17	2012-03-01	2012-03-01	ENSG00000168303	ENSG00000168303			16002	protein-coding gene	gene with protein product	tricothiodystrophy, non-photosensitive 1	609188	"""chromosome 7 open reading frame 11"""	C7orf11		11829489	Standard	NM_138701		Approved	ORF20, TTDN1	uc003thl.4	Q8TAP9	OTTHUMG00000128797	ENST00000306984.6:c.125G>C	7.37:g.40174042C>G	ENSP00000304553:p.Arg42Pro						p.R42P	NM_138701.3	NP_619646.1	Q8TAP9	TTDN1_HUMAN			1	216	-			42						Missense_Mutation	SNP	ENST00000306984.6	37	c.125G>C	CCDS5463.1	.	.	.	.	.	.	.	.	.	.	C	16.93	3.257373	0.59321	.	.	ENSG00000168303	ENST00000306984	T	0.78924	-1.22	5.18	4.31	0.51392	.	0.397351	0.24447	N	0.038453	T	0.74680	0.3748	L	0.31664	0.95	0.37972	D	0.93332	D	0.57571	0.98	P	0.55345	0.774	T	0.73607	-0.3929	10	0.25751	T	0.34	-28.0936	11.0745	0.48023	0.0:0.9157:0.0:0.0843	.	42	Q8TAP9	TTDN1_HUMAN	P	42	ENSP00000304553:R42P	ENSP00000304553:R42P	R	-	2	0	C7orf11	40140567	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	2.653000	0.46691	1.416000	0.47057	0.655000	0.94253	CGA		0.731	MPLKIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250729.3	NM_138701		3	6	0	0	0	1	0	3	6				
GLOD4	51031	broad.mit.edu	37	17	679028	679028	+	Silent	SNP	A	A	G			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:679028A>G	ENST00000301328.5	-	5	461	c.438T>C	c.(436-438)agT>agC	p.S146S	GLOD4_ENST00000301329.6_Silent_p.S131S|GLOD4_ENST00000536578.1_Silent_p.S122S			Q9HC38	GLOD4_HUMAN	glyoxalase domain containing 4	146						extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)				endometrium(1)|large_intestine(1)|prostate(1)	3				UCEC - Uterine corpus endometrioid carcinoma (25;0.022)		ACTGAGGCAGACTGCGATTCT	0.483																																						ENST00000301329.6																			0				endometrium(1)|large_intestine(1)|prostate(1)	3						c.(391-393)agT>agC		glyoxalase domain containing 4							84.0	82.0	83.0					17																	679028		2203	4300	6503	SO:0001819	synonymous_variant	51031					mitochondrion		g.chr17:679028A>G	AF177342	CCDS32520.1	17p13.3	2008-02-05	2007-03-14	2007-03-14		ENSG00000167699			14111	protein-coding gene	gene with protein product			"""chromosome 17 open reading frame 25"""	C17orf25		11642406, 12528892	Standard	NM_016080		Approved	CGI-150, HC71	uc002fru.3	Q9HC38		ENST00000301328.5:c.438T>C	17.37:g.679028A>G						GLOD4_ENST00000301328.5_Silent_p.S146S|GLOD4_ENST00000536578.1_Silent_p.S122S	p.S131S	NM_016080.3	NP_057164.3	Q9HC38	GLOD4_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (25;0.022)	4	478	-			146					D3DTG9|D3DTH1|Q96B89|Q9H3J8|Q9HC37|Q9NVN1	Silent	SNP	ENST00000301328.5	37	c.393T>C																																																																																					0.483	GLOD4-005	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000437190.1	NM_016080		13	64	0	0	0	1	0	13	64				
TTF2	8458	broad.mit.edu	37	1	117618156	117618156	+	Missense_Mutation	SNP	C	C	T	rs367793200		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:117618156C>T	ENST00000369466.4	+	5	994	c.950C>T	c.(949-951)cCg>cTg	p.P317L		NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN	transcription termination factor, RNA polymerase II	317					ATP catabolic process (GO:0006200)|DNA-templated transcription, termination (GO:0006353)|mRNA processing (GO:0006397)|regulation of transcription, DNA-templated (GO:0006355)|RNA splicing (GO:0008380)|termination of RNA polymerase II transcription (GO:0006369)	cytoplasm (GO:0005737)|spliceosomal complex (GO:0005681)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|ATP-dependent helicase activity (GO:0008026)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|zinc ion binding (GO:0008270)			NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)		CAAGAGCGGCCGGAGACCCAC	0.612																																						ENST00000369466.3																			0				NS(1)|autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(7)|liver(1)|lung(24)|ovary(1)|prostate(2)|skin(2)|urinary_tract(2)	50						c.(949-951)cCg>cTg		transcription termination factor, RNA polymerase II		C	LEU/PRO	0,4406		0,0,2203	40.0	41.0	41.0		950	-1.8	0.0	1		41	1,8599	1.2+/-3.3	0,1,4299	no	missense	TTF2	NM_003594.3	98	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	317/1163	117618156	1,13005	2203	4300	6503	SO:0001583	missense	8458				mRNA processing|regulation of transcription, DNA-dependent|RNA splicing|termination of RNA polymerase II transcription	cytoplasm|spliceosomal complex|transcription elongation factor complex	ATP binding|ATP-dependent helicase activity|DNA binding|DNA-dependent ATPase activity|protein binding|zinc ion binding	g.chr1:117618156C>T	AF073771	CCDS892.1	1p13.1	2014-02-18			ENSG00000116830	ENSG00000116830			12398	protein-coding gene	gene with protein product	"""zinc finger, GRF-type containing 6"""	604718				9748214	Standard	NM_003594		Approved	HuF2, ZGRF6	uc001egy.3	Q9UNY4	OTTHUMG00000012030	ENST00000369466.4:c.950C>T	1.37:g.117618156C>T	ENSP00000358478:p.Pro317Leu						p.P317L	NM_003594.3	NP_003585.3	Q9UNY4	TTF2_HUMAN		Lung(183;0.0553)|Colorectal(144;0.179)|LUSC - Lung squamous cell carcinoma(189;0.19)	5	994	+	Lung SC(450;0.225)	all_cancers(81;4.23e-06)|all_epithelial(167;3.65e-07)|all_lung(203;2.81e-06)|Lung NSC(69;1.98e-05)	317					A8K4Q2|O75921|Q5T2K7|Q5VVU8|Q8N6I8	Missense_Mutation	SNP	ENST00000369466.4	37	c.950C>T	CCDS892.1	.	.	.	.	.	.	.	.	.	.	C	12.62	1.994105	0.35226	0.0	1.16E-4	ENSG00000116830	ENST00000369466	D	0.86865	-2.18	5.19	-1.75	0.08031	.	2.896150	0.01240	N	0.008581	T	0.57636	0.2067	N	0.14661	0.345	0.09310	N	1	B;B	0.14805	0.002;0.011	B;B	0.09377	0.0;0.004	T	0.53989	-0.8360	10	0.41790	T	0.15	8.6374	5.3778	0.16174	0.0:0.4405:0.2507:0.3087	.	317;317	Q9UNY4;Q9UNY4-2	TTF2_HUMAN;.	L	317	ENSP00000358478:P317L	ENSP00000358478:P317L	P	+	2	0	TTF2	117419679	0.000000	0.05858	0.000000	0.03702	0.003000	0.03518	-0.722000	0.04958	-0.181000	0.10619	0.561000	0.74099	CCG		0.612	TTF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033277.3			14	27	0	0	0	1	0	14	27				
PDE8A	5151	broad.mit.edu	37	15	85666413	85666413	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr15:85666413G>A	ENST00000310298.4	+	20	2326	c.2074G>A	c.(2074-2076)Gaa>Aaa	p.E692K	PDE8A_ENST00000557957.1_Missense_Mutation_p.E620K|PDE8A_ENST00000394553.1_Missense_Mutation_p.E692K|PDE8A_ENST00000339708.5_Missense_Mutation_p.E646K			O60658	PDE8A_HUMAN	phosphodiesterase 8A	692	Catalytic. {ECO:0000250}.				cAMP catabolic process (GO:0006198)|cyclic nucleotide metabolic process (GO:0009187)|phosphorelay signal transduction system (GO:0000160)|regulation of transcription, DNA-templated (GO:0006355)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	3',5'-cyclic-AMP phosphodiesterase activity (GO:0004115)|3',5'-cyclic-nucleotide phosphodiesterase activity (GO:0004114)|metal ion binding (GO:0046872)|signal transducer activity (GO:0004871)			NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25	Colorectal(223;0.227)		BRCA - Breast invasive adenocarcinoma(143;0.0608)		Caffeine(DB00201)|Ketotifen(DB00920)	GGCAACACTAGAAGAAAATGG	0.433																																						ENST00000310298.4																			0				NS(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(8)|ovary(2)|pancreas(1)|prostate(1)|skin(2)	25						c.(2074-2076)Gaa>Aaa		phosphodiesterase 8A							104.0	95.0	98.0					15																	85666413		2203	4299	6502	SO:0001583	missense	5151				cyclic nucleotide metabolic process|regulation of transcription, DNA-dependent	cytosol	3',5'-cyclic-AMP phosphodiesterase activity|metal ion binding|two-component response regulator activity	g.chr15:85666413G>A	AF056490	CCDS10336.1, CCDS10337.1, CCDS58397.1	15q25.3	2008-05-14			ENSG00000073417	ENSG00000073417	3.1.4.17	"""Phosphodiesterases"""	8793	protein-coding gene	gene with protein product		602972				9618252	Standard	NM_001243137		Approved	HsT19550	uc002blh.3	O60658	OTTHUMG00000148670	ENST00000310298.4:c.2074G>A	15.37:g.85666413G>A	ENSP00000311453:p.Glu692Lys					PDE8A_ENST00000557957.1_Missense_Mutation_p.E620K|PDE8A_ENST00000339708.5_Missense_Mutation_p.E646K|PDE8A_ENST00000394553.1_Missense_Mutation_p.E692K	p.E692K			O60658	PDE8A_HUMAN	BRCA - Breast invasive adenocarcinoma(143;0.0608)		20	2326	+	Colorectal(223;0.227)		692			Catalytic (By similarity).		B3KXE6|H0YMZ7|Q6P9H3|Q969I1|Q96PC9|Q96PD0|Q96PD1|Q96T71|Q9UMB7|Q9UMC3	Missense_Mutation	SNP	ENST00000310298.4	37	c.2074G>A	CCDS10336.1	.	.	.	.	.	.	.	.	.	.	G	13.03	2.116436	0.37339	.	.	ENSG00000073417	ENST00000310298;ENST00000394553;ENST00000339708	T;T;T	0.71698	-0.59;-0.59;-0.46	4.86	3.95	0.45737	Metal-dependent phosphohydrolase, HD domain (1);5&apos (2);-cyclic nucleotide phosphodiesterase, catalytic domain (2);3&apos (2);	0.407810	0.27270	N	0.020132	T	0.61299	0.2336	L	0.49256	1.55	0.51767	D	0.999939	P;P	0.49961	0.561;0.93	B;B	0.40982	0.082;0.345	T	0.58470	-0.7631	10	0.23302	T	0.38	.	10.896	0.47023	0.0909:0.0:0.9091:0.0	.	646;692	O60658-2;O60658	.;PDE8A_HUMAN	K	692;692;646	ENSP00000311453:E692K;ENSP00000378056:E692K;ENSP00000340679:E646K	ENSP00000311453:E692K	E	+	1	0	PDE8A	83467417	1.000000	0.71417	0.011000	0.14972	0.017000	0.09413	8.963000	0.93385	1.279000	0.44446	-0.136000	0.14681	GAA		0.433	PDE8A-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000309018.1	NM_002605		23	57	0	0	0	1	0	23	57				
PPFIA2	8499	broad.mit.edu	37	12	81688766	81688766	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr12:81688766C>T	ENST00000549396.1	-	24	2933	c.2773G>A	c.(2773-2775)Gtg>Atg	p.V925M	PPFIA2_ENST00000550584.2_Missense_Mutation_p.V925M|PPFIA2_ENST00000407050.4_Missense_Mutation_p.V851M|PPFIA2_ENST00000549325.1_Missense_Mutation_p.V910M|PPFIA2_ENST00000541570.2_Missense_Mutation_p.V492M|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000550359.2_Missense_Mutation_p.V772M|PPFIA2_ENST00000333447.7_Missense_Mutation_p.V910M|PPFIA2_ENST00000541017.1_Missense_Mutation_p.V142M|PPFIA2_ENST00000552948.1_Missense_Mutation_p.V925M|RP11-121G22.3_ENST00000549161.1_lincRNA|PPFIA2_ENST00000548586.1_Missense_Mutation_p.V925M|PPFIA2_ENST00000443686.3_Missense_Mutation_p.V826M	NM_001220476.1|NM_001282536.1|NM_003625.3	NP_001207405.1|NP_001269465.1|NP_003616.2	O75334	LIPA2_HUMAN	protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2	925	SAM 1. {ECO:0000255|PROSITE- ProRule:PRU00184}.				cell-matrix adhesion (GO:0007160)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|presynaptic active zone (GO:0048786)				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						CCACTCTTCACGTTGGCTCGG	0.413																																						ENST00000550584.2																			0				NS(1)|autonomic_ganglia(1)|central_nervous_system(1)|endometrium(13)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(15)|lung(37)|ovary(3)|pancreas(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(5)	85						c.(2773-2775)Gtg>Atg		protein tyrosine phosphatase, receptor type, f polypeptide (PTPRF), interacting protein (liprin), alpha 2							84.0	83.0	83.0					12																	81688766		2102	4272	6374	SO:0001583	missense	8499							g.chr12:81688766C>T	AF034799	CCDS55850.1, CCDS55851.1, CCDS55852.1, CCDS55853.1, CCDS55854.1, CCDS55855.1, CCDS55856.1, CCDS55857.1, CCDS59236.1, CCDS73503.1	12q21.31	2013-01-10						"""Sterile alpha motif (SAM) domain containing"""	9246	protein-coding gene	gene with protein product	"""Liprin-alpha2"""	603143				9624153	Standard	NM_003625		Approved		uc031qis.1	O75334		ENST00000549396.1:c.2773G>A	12.37:g.81688766C>T	ENSP00000450337:p.Val925Met					PPFIA2_ENST00000443686.3_Missense_Mutation_p.V826M|PPFIA2_ENST00000549325.1_Missense_Mutation_p.V910M|PPFIA2_ENST00000545296.2_Intron|PPFIA2_ENST00000407050.4_Missense_Mutation_p.V851M|PPFIA2_ENST00000548586.1_Missense_Mutation_p.V925M|PPFIA2_ENST00000541017.1_Missense_Mutation_p.V142M|PPFIA2_ENST00000333447.7_Missense_Mutation_p.V910M|PPFIA2_ENST00000552948.1_Missense_Mutation_p.V925M|PPFIA2_ENST00000541570.2_Missense_Mutation_p.V492M|RP11-121G22.3_ENST00000549161.1_lincRNA|PPFIA2_ENST00000550359.2_Missense_Mutation_p.V772M|PPFIA2_ENST00000549396.1_Missense_Mutation_p.V925M	p.V925M	NM_001220473.1	NP_001207402.1	B7Z663	B7Z663_HUMAN			23	3068	-			851					B3KVT5|B3KXA0|B7Z2A6|B7Z3U9|B7Z663|B7ZKZ5|E7ERB8|E7ETG6|F8VP68|Q2M3G8	Missense_Mutation	SNP	ENST00000549396.1	37	c.2773G>A	CCDS55857.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	32|32	5.132496|5.132496	0.94473|0.94473	.|.	.|.	ENSG00000139220|ENSG00000139220	ENST00000551147|ENST00000549396;ENST00000549325;ENST00000541570;ENST00000541017;ENST00000407050;ENST00000541501;ENST00000333447;ENST00000548586;ENST00000443686;ENST00000552948	.|T;T;T;T;T;T;T;T;T	.|0.48836	.|0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8;0.8	5.62|5.62	5.62|5.62	0.85841|0.85841	.|Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	.|0.000000	.|0.85682	.|D	.|0.000000	T|T	0.71837|0.71837	0.3387|0.3387	M|M	0.78049|0.78049	2.395|2.395	0.80722|0.80722	D|D	1|1	.|D	.|0.89917	.|1.0	.|D	.|0.87578	.|0.998	T|T	0.74538|0.74538	-0.3632|-0.3632	5|10	.|0.87932	.|D	.|0	-17.0078|-17.0078	19.6517|19.6517	0.95819|0.95819	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	.|925	.|O75334	.|LIPA2_HUMAN	H|M	90|925;910;492;142;851;936;910;925;826;925	.|ENSP00000450337:V925M;ENSP00000450298:V910M;ENSP00000438337:V492M;ENSP00000445532:V142M;ENSP00000385093:V851M;ENSP00000327416:V910M;ENSP00000449338:V925M;ENSP00000388373:V826M;ENSP00000447868:V925M	.|ENSP00000327416:V910M	R|V	-|-	2|1	0|0	PPFIA2|PPFIA2	80212897|80212897	1.000000|1.000000	0.71417|0.71417	0.999000|0.999000	0.59377|0.59377	0.998000|0.998000	0.95712|0.95712	7.818000|7.818000	0.86416|0.86416	2.662000|2.662000	0.90505|0.90505	0.655000|0.655000	0.94253|0.94253	CGT|GTG		0.413	PPFIA2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000408030.1			20	13	0	0	0	1	0	20	13				
TRIM5	85363	broad.mit.edu	37	11	5688930	5688930	+	Silent	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:5688930G>A	ENST00000380034.3	-	5	1012	c.756C>T	c.(754-756)ggC>ggT	p.G252G	TRIM5_ENST00000380027.1_Silent_p.G252G|TRIM5_ENST00000305836.5_Intron|TRIM5_ENST00000396855.3_Silent_p.G252G|TRIM5_ENST00000483835.1_5'UTR|TRIM5_ENST00000396853.4_Intron|TRIM5_ENST00000396847.3_Silent_p.G252G	NM_033034.2|NM_033092.2	NP_149023.2|NP_149083.2	Q9C035	TRIM5_HUMAN	tripartite motif containing 5	252					activation of innate immune response (GO:0002218)|defense response to virus (GO:0051607)|innate immune response (GO:0045087)|negative regulation of viral entry into host cell (GO:0046597)|negative regulation of viral release from host cell (GO:1902187)|pattern recognition receptor signaling pathway (GO:0002221)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|protein K63-linked ubiquitination (GO:0070534)|protein trimerization (GO:0070206)|regulation of lipopolysaccharide-mediated signaling pathway (GO:0031664)|viral process (GO:0016032)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	identical protein binding (GO:0042802)|ligase activity (GO:0016874)|protein homodimerization activity (GO:0042803)|signaling pattern recognition receptor activity (GO:0008329)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)		TTTTTATGACGCCATCCACAC	0.398																																						ENST00000396847.3																			0				breast(1)|central_nervous_system(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(6)|ovary(2)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	21						c.(754-756)ggC>ggT		tripartite motif containing 5							134.0	120.0	125.0					11																	5688930		2201	4297	6498	SO:0001819	synonymous_variant	85363				interspecies interaction between organisms|protein trimerization|response to virus	cytoplasm|cytoplasmic mRNA processing body	ligase activity|protein binding|protein homodimerization activity|zinc ion binding	g.chr11:5688930G>A	AF220025	CCDS31392.1, CCDS31393.1, CCDS31394.1	11p15	2014-06-03	2011-01-25		ENSG00000132256	ENSG00000132256		"""Tripartite motif containing / Tripartite motif containing"", ""RING-type (C3HC4) zinc fingers"""	16276	protein-coding gene	gene with protein product	"""tripartite motif protein TRIM5"", ""tripartite motif protein TRIM"""	608487	"""tripartite motif-containing 5"""			11331580	Standard	NM_033034		Approved	RNF88, TRIM5alpha	uc001mbm.2	Q9C035	OTTHUMG00000066893	ENST00000380034.3:c.756C>T	11.37:g.5688930G>A						TRIM5_ENST00000396855.3_Silent_p.G252G|TRIM5_ENST00000380034.3_Silent_p.G252G|TRIM5_ENST00000305836.5_Intron|TRIM5_ENST00000380027.1_Silent_p.G252G|TRIM5_ENST00000483835.1_5'UTR|TRIM5_ENST00000396853.4_Intron	p.G252G			Q9C035	TRIM5_HUMAN		Epithelial(150;7.21e-09)|BRCA - Breast invasive adenocarcinoma(625;0.139)	5	991	-		Medulloblastoma(188;0.00225)|Breast(177;0.0204)|all_neural(188;0.0212)|Lung NSC(207;0.138)|all_lung(207;0.221)	252					A6NGQ1|A8WFA8|D3DQS8|D3DQS9|G3GJY1|Q2MLV4|Q2MLV8|Q2MLV9|Q2MLW1|Q2MLW3|Q2MLW4|Q2MLW6|Q2MLW7|Q2MLX1|Q2MLX2|Q2MLX3|Q2MLX5|Q2MLY3|Q2MLY4|Q2V6Q6|Q6GX26|Q8WU46|Q96SR5|Q9C031|Q9C032|Q9C033|Q9C034	Silent	SNP	ENST00000380034.3	37	c.756C>T	CCDS31393.1	.	.	.	.	.	.	.	.	.	.	G	2.339	-0.351468	0.05173	.	.	ENSG00000132256	ENST00000438025	.	.	.	3.6	0.596	0.17496	.	.	.	.	.	T	0.29524	0.0736	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.25293	-1.0136	4	.	.	.	.	5.8343	0.18599	0.3616:0.0:0.6384:0.0	.	.	.	.	V	129	.	.	A	-	2	0	TRIM5	5645506	0.000000	0.05858	0.000000	0.03702	0.006000	0.05464	-0.860000	0.04272	0.141000	0.18875	0.555000	0.69702	GCG		0.398	TRIM5-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000143360.3	NM_033034		16	47	0	0	0	1	0	16	47				
LIN7C	55327	broad.mit.edu	37	11	27523058	27523058	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:27523058G>A	ENST00000278193.2	-	3	232	c.212C>T	c.(211-213)gCg>gTg	p.A71V	LIN7C_ENST00000524596.1_Intron	NM_018362.3	NP_060832.1	Q9NUP9	LIN7C_HUMAN	lin-7 homolog C (C. elegans)	71					exocytosis (GO:0006887)|morphogenesis of an epithelial sheet (GO:0002011)|neurotransmitter secretion (GO:0007269)|protein transport (GO:0015031)	cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|MPP7-DLG1-LIN7 complex (GO:0097025)|neuron projection (GO:0043005)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	cytoskeletal protein binding (GO:0008092)|L27 domain binding (GO:0097016)|protein domain specific binding (GO:0019904)	p.A71V(1)		endometrium(2)|lung(2)|upper_aerodigestive_tract(1)	5						AGTAGCGTTCGCTCTCACTTC	0.313																																						ENST00000278193.2																			1	Substitution - Missense(1)	p.A71V(1)	endometrium(1)	endometrium(2)|lung(2)|upper_aerodigestive_tract(1)	5						c.(211-213)gCg>gTg		lin-7 homolog C (C. elegans)							94.0	90.0	91.0					11																	27523058		2202	4299	6501	SO:0001583	missense	55327				exocytosis|protein transport	basolateral plasma membrane|postsynaptic density|postsynaptic membrane|synaptosome|tight junction		g.chr11:27523058G>A	AK002077	CCDS7864.1	11p14	2008-07-18				ENSG00000148943			17789	protein-coding gene	gene with protein product	"""LIN-7 protein 3"""	612332				10341223	Standard	NM_018362		Approved	MALS-3, Lin7c, LIN-7C, LIN-7-C, VELI3, FLJ11215	uc001mrl.3	Q9NUP9		ENST00000278193.2:c.212C>T	11.37:g.27523058G>A	ENSP00000278193:p.Ala71Val					LIN7C_ENST00000524596.1_Intron	p.A71V	NM_018362.3	NP_060832.1	Q9NUP9	LIN7C_HUMAN			3	232	-			71						Missense_Mutation	SNP	ENST00000278193.2	37	c.212C>T	CCDS7864.1	.	.	.	.	.	.	.	.	.	.	G	31	5.090051	0.94149	.	.	ENSG00000148943	ENST00000278193	T	0.19806	2.12	5.59	5.59	0.84812	PDZ/DHR/GLGF (1);	0.098404	0.64402	D	0.000001	T	0.45438	0.1342	M	0.84948	2.725	0.80722	D	1	D	0.64830	0.994	P	0.53760	0.734	T	0.41875	-0.9484	10	0.38643	T	0.18	.	19.961	0.97250	0.0:0.0:1.0:0.0	.	71	Q9NUP9	LIN7C_HUMAN	V	71	ENSP00000278193:A71V	ENSP00000278193:A71V	A	-	2	0	LIN7C	27479634	1.000000	0.71417	0.985000	0.45067	0.852000	0.48524	9.813000	0.99286	2.783000	0.95769	0.655000	0.94253	GCG		0.313	LIN7C-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388311.2	NM_018362		19	47	0	0	0	1	0	19	47				
ADRBK1	156	broad.mit.edu	37	11	67052865	67052865	+	Missense_Mutation	SNP	G	G	A	rs61763970		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:67052865G>A	ENST00000308595.5	+	21	2304	c.2014G>A	c.(2014-2016)Gtg>Atg	p.V672M	ADRBK1_ENST00000526285.1_Intron	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	adrenergic, beta, receptor kinase 1	672					activation of phospholipase C activity (GO:0007202)|cardiac muscle contraction (GO:0060048)|desensitization of G-protein coupled receptor protein signaling pathway (GO:0002029)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|G-protein coupled acetylcholine receptor signaling pathway (GO:0007213)|heart development (GO:0007507)|innate immune response (GO:0045087)|negative regulation of striated muscle contraction (GO:0045988)|negative regulation of the force of heart contraction by chemical signal (GO:0003108)|neurotrophin TRK receptor signaling pathway (GO:0048011)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of catecholamine secretion (GO:0033605)|receptor internalization (GO:0031623)|signal transduction (GO:0007165)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alpha-2A adrenergic receptor binding (GO:0031694)|ATP binding (GO:0005524)|beta-adrenergic receptor kinase activity (GO:0047696)|Edg-2 lysophosphatidic acid receptor binding (GO:0031755)|G-protein coupled receptor kinase activity (GO:0004703)|protein kinase activity (GO:0004672)			cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		Adenosine triphosphate(DB00171)	GCGCTCGCCCGTGGTGGAGCT	0.622																																						ENST00000308595.5																			0				cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(2)|liver(2)|lung(8)|prostate(2)	22						c.(2014-2016)Gtg>Atg		adrenergic, beta, receptor kinase 1	Adenosine triphosphate(DB00171)	G	MET/VAL	0,4386		0,0,2193	18.0	19.0	19.0		2014	4.2	0.9	11	dbSNP_129	19	1,8575		0,1,4287	no	missense	ADRBK1	NM_001619.3	21	0,1,6480	AA,AG,GG		0.0117,0.0,0.0077	benign	672/690	67052865	1,12961	2193	4288	6481	SO:0001583	missense	156				activation of phospholipase C activity|cardiac muscle contraction|desensitization of G-protein coupled receptor protein signaling pathway|muscarinic acetylcholine receptor signaling pathway|negative regulation of striated muscle contraction|negative regulation of the force of heart contraction by chemical signal|nerve growth factor receptor signaling pathway|peptidyl-serine phosphorylation|positive regulation of catecholamine secretion|tachykinin receptor signaling pathway	cytosol|soluble fraction	alpha-2A adrenergic receptor binding|ATP binding|beta-adrenergic receptor kinase activity|Edg-2 lysophosphatidic acid receptor binding|G-protein coupled receptor kinase activity|signal transducer activity	g.chr11:67052865G>A	X61157	CCDS8156.1	11q13	2013-01-10			ENSG00000173020	ENSG00000173020		"""Pleckstrin homology (PH) domain containing"""	289	protein-coding gene	gene with protein product		109635				2037065	Standard	NM_001619		Approved	GRK2, BARK1	uc009yrn.1	P25098	OTTHUMG00000167104	ENST00000308595.5:c.2014G>A	11.37:g.67052865G>A	ENSP00000312262:p.Val672Met					ADRBK1_ENST00000526285.1_Intron	p.V672M	NM_001619.3	NP_001610.2	P25098	ARBK1_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		21	2304	+			672					B0ZBE1|Q13837|Q6GTT3	Missense_Mutation	SNP	ENST00000308595.5	37	c.2014G>A	CCDS8156.1	.	.	.	.	.	.	.	.	.	.	G	16.59	3.166502	0.57476	0.0	1.17E-4	ENSG00000173020	ENST00000308595	T	0.60299	0.2	4.15	4.15	0.48705	.	0.232573	0.22148	N	0.063955	T	0.36193	0.0958	N	0.08118	0	0.80722	D	1	D	0.55172	0.97	B	0.38296	0.27	T	0.44483	-0.9325	10	0.42905	T	0.14	-18.1935	16.4247	0.83810	0.0:0.0:1.0:0.0	rs61763970	672	P25098	ARBK1_HUMAN	M	672	ENSP00000312262:V672M	ENSP00000312262:V672M	V	+	1	0	ADRBK1	66809441	1.000000	0.71417	0.861000	0.33841	0.827000	0.46813	4.689000	0.61723	2.042000	0.60477	0.491000	0.48974	GTG		0.622	ADRBK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393153.1	NM_001619		6	30	0	0	0	1	0	6	30				
AP4M1	9179	broad.mit.edu	37	7	99704297	99704297	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:99704297C>A	ENST00000359593.4	+	15	1312	c.1154C>A	c.(1153-1155)cCc>cAc	p.P385H	AP4M1_ENST00000429084.1_Missense_Mutation_p.P392H|AP4M1_ENST00000421755.1_Missense_Mutation_p.P385H|AP4M1_ENST00000422582.1_Missense_Mutation_p.P257H	NM_004722.3	NP_004713.2	O00189	AP4M1_HUMAN	adaptor-related protein complex 4, mu 1 subunit	385	MHD. {ECO:0000255|PROSITE- ProRule:PRU00404}.				Golgi to endosome transport (GO:0006895)|intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	AP-type membrane coat adaptor complex (GO:0030119)|clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|extracellular vesicular exosome (GO:0070062)|Golgi trans cisterna (GO:0000138)|trans-Golgi network (GO:0005802)	transporter activity (GO:0005215)			breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)					GTCCCAGGGCCCCCAGGACCT	0.687																																					Pancreas(174;1182 2812 29595 49511)	ENST00000429084.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|skin(1)	17						c.(1174-1176)cCc>cAc		adaptor-related protein complex 4, mu 1 subunit							41.0	46.0	44.0					7																	99704297		2203	4300	6503	SO:0001583	missense	9179				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|coated pit|Golgi trans cisterna	transporter activity	g.chr7:99704297C>A	Y08387	CCDS5685.1	7q22.1	2012-06-29			ENSG00000221838	ENSG00000221838			574	protein-coding gene	gene with protein product	"""mu-adaptin-related protein-2"", ""mu subunit of AP-4"", ""AP-4 adapter complex mu subunit"", ""adaptor-related protein complex AP-4 mu4 subunit"""	602296				9013859, 10066790, 21620353	Standard	NM_004722		Approved	MU-ARP2, MU-4, SPG50	uc003utb.4	O00189	OTTHUMG00000154722	ENST00000359593.4:c.1154C>A	7.37:g.99704297C>A	ENSP00000352603:p.Pro385His					AP4M1_ENST00000422582.1_Missense_Mutation_p.P257H|AP4M1_ENST00000421755.1_Missense_Mutation_p.P385H|AP4M1_ENST00000359593.4_Missense_Mutation_p.P385H	p.P392H			O00189	AP4M1_HUMAN			15	1333	+	Lung NSC(181;0.0181)|all_lung(186;0.0284)|Esophageal squamous(72;0.0439)		385			MHD.		D6W5U1|Q8WV65|Q9UHK9	Missense_Mutation	SNP	ENST00000359593.4	37	c.1175C>A	CCDS5685.1	.	.	.	.	.	.	.	.	.	.	C	1.388	-0.581699	0.03854	.	.	ENSG00000221838	ENST00000429084;ENST00000359593;ENST00000421755;ENST00000422582	T;T;T;T	0.19669	2.13;2.13;2.13;2.13	4.81	2.43	0.29744	Clathrin adaptor, mu subunit, C-terminal (3);	0.478449	0.21768	N	0.069413	T	0.12518	0.0304	N	0.08118	0	0.09310	N	1	B;B;B	0.31611	0.331;0.002;0.331	B;B;B	0.40375	0.157;0.001;0.327	T	0.19160	-1.0314	10	0.87932	D	0	0.093	5.366	0.16113	0.0:0.2579:0.0:0.7421	.	337;392;385	B4DKN7;C9JC87;O00189	.;.;AP4M1_HUMAN	H	392;385;385;257	ENSP00000403663:P392H;ENSP00000352603:P385H;ENSP00000412185:P385H;ENSP00000406676:P257H	ENSP00000352603:P385H	P	+	2	0	AP4M1	99542233	0.002000	0.14202	0.004000	0.12327	0.567000	0.35839	0.353000	0.20130	0.337000	0.23665	0.561000	0.74099	CCC		0.687	AP4M1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000336772.4	NM_004722		26	88	1	0	4.22769e-11	1	4.71108e-11	26	88				
ZNRF3	84133	broad.mit.edu	37	22	29442737	29442737	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr22:29442737G>C	ENST00000544604.2	+	6	953	c.778G>C	c.(778-780)Gag>Cag	p.E260Q	ZNRF3_ENST00000406323.3_Missense_Mutation_p.E160Q|ZNRF3_ENST00000402174.1_Missense_Mutation_p.E160Q|ZNRF3_ENST00000332811.4_Missense_Mutation_p.E160Q	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN	zinc and ring finger 3	260					canonical Wnt signaling pathway (GO:0060070)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of non-canonical Wnt signaling pathway (GO:2000051)|protein ubiquitination (GO:0016567)|stem cell proliferation (GO:0072089)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt receptor catabolic process (GO:0038018)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	integral component of plasma membrane (GO:0005887)	frizzled binding (GO:0005109)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						GCAGGCTCTAGAGAAGATGGA	0.577																																						ENST00000544604.2																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|liver(4)|lung(9)|ovary(2)|prostate(2)|skin(1)|upper_aerodigestive_tract(2)	28						c.(778-780)Gag>Cag		zinc and ring finger 3							76.0	85.0	82.0					22																	29442737		1935	4127	6062	SO:0001583	missense	84133					integral to membrane	zinc ion binding	g.chr22:29442737G>C	AB051436	CCDS42999.1, CCDS56225.1	22q12.1	2013-01-09			ENSG00000183579	ENSG00000183579		"""RING-type (C3HC4) zinc fingers"""	18126	protein-coding gene	gene with protein product		612062				10574461	Standard	NM_032173		Approved	KIAA1133, BK747E2.3, FLJ22057, RNF203	uc003aeg.3	Q9ULT6	OTTHUMG00000151009	ENST00000544604.2:c.778G>C	22.37:g.29442737G>C	ENSP00000443824:p.Glu260Gln					ZNRF3_ENST00000332811.4_Missense_Mutation_p.E160Q|ZNRF3_ENST00000406323.3_Missense_Mutation_p.E160Q|ZNRF3_ENST00000402174.1_Missense_Mutation_p.E160Q	p.E260Q	NM_001206998.1	NP_001193927.1	Q9ULT6	ZNRF3_HUMAN			6	953	+			260					B3KU18|Q6ICH1|Q6NTF8|Q8WU18	Missense_Mutation	SNP	ENST00000544604.2	37	c.778G>C	CCDS56225.1	.	.	.	.	.	.	.	.	.	.	G	28.0	4.885028	0.91814	.	.	ENSG00000183579	ENST00000544604;ENST00000332811;ENST00000402174;ENST00000406323	T;T;T;T	0.08634	3.21;3.07;3.07;3.07	5.82	5.82	0.92795	.	0.045477	0.85682	D	0.000000	T	0.11623	0.0283	N	0.19112	0.55	0.58432	D	0.999998	P	0.51351	0.944	P	0.50570	0.644	T	0.08432	-1.0722	10	0.38643	T	0.18	-4.2002	18.657	0.91458	0.0:0.0:1.0:0.0	.	260	Q9ULT6	ZNRF3_HUMAN	Q	260;160;160;160	ENSP00000443824:E260Q;ENSP00000328614:E160Q;ENSP00000384456:E160Q;ENSP00000384553:E160Q	ENSP00000328614:E160Q	E	+	1	0	ZNRF3	27772737	1.000000	0.71417	1.000000	0.80357	0.986000	0.74619	5.448000	0.66612	2.747000	0.94245	0.655000	0.94253	GAG		0.577	ZNRF3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000320943.2	XM_290972		66	131	0	0	0	1	0	66	131				
GRIN3A	116443	broad.mit.edu	37	9	104356920	104356920	+	Intron	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr9:104356920G>A	ENST00000361820.3	-	7	3367				PPP3R2_ENST00000374806.1_Missense_Mutation_p.A98V	NM_133445.2	NP_597702.2	Q8TCU5	NMD3A_HUMAN	glutamate receptor, ionotropic, N-methyl-D-aspartate 3A						calcium ion transport (GO:0006816)|dendrite development (GO:0016358)|ion transmembrane transport (GO:0034220)|ionotropic glutamate receptor signaling pathway (GO:0035235)|prepulse inhibition (GO:0060134)|response to ethanol (GO:0045471)|rhythmic process (GO:0048511)|synaptic transmission, glutamatergic (GO:0035249)	cell junction (GO:0030054)|dendrite (GO:0030425)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|postsynaptic membrane (GO:0045211)|synapse (GO:0045202)	calcium channel activity (GO:0005262)|extracellular-glutamate-gated ion channel activity (GO:0005234)|glycine binding (GO:0016594)|identical protein binding (GO:0042802)|N-methyl-D-aspartate selective glutamate receptor activity (GO:0004972)|neurotransmitter binding (GO:0042165)|protein phosphatase 2A binding (GO:0051721)			breast(2)|central_nervous_system(2)|endometrium(4)|kidney(3)|large_intestine(12)|lung(44)|ovary(4)|pancreas(1)|skin(7)|upper_aerodigestive_tract(1)	80		Acute lymphoblastic leukemia(62;0.0568)			Acamprosate(DB00659)|Acetylcysteine(DB06151)|Amantadine(DB00915)|Atomoxetine(DB00289)|Chloroprocaine(DB01161)|Dextromethorphan(DB00514)|Ethanol(DB00898)|Ethopropazine(DB00392)|Felbamate(DB00949)|Gabapentin(DB00996)|Halothane(DB01159)|Ketamine(DB01221)|Ketobemidone(DB06738)|Memantine(DB01043)|Methadone(DB00333)|Milnacipran(DB04896)|Orphenadrine(DB01173)|Pentobarbital(DB00312)|Phenobarbital(DB01174)|Procaine(DB00721)|Secobarbital(DB00418)|Tramadol(DB00193)	AATGCTGAACGCAAACCTCAA	0.532																																						ENST00000374806.1																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(12)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	22						c.(292-294)gCg>gTg		protein phosphatase 3, regulatory subunit B, beta	Cyclosporine(DB00091)						147.0	134.0	138.0					9																	104356920		2203	4300	6503	SO:0001627	intron_variant	5535						calcium ion binding	g.chr9:104356920G>A		CCDS6758.1	9q31.1	2012-08-29			ENSG00000198785	ENSG00000198785		"""Ligand-gated ion channels / Glutamate receptors, ionotropic"", ""Glutamate receptors"""	16767	protein-coding gene	gene with protein product		606650					Standard	NM_133445		Approved	GluN3A	uc004bbp.2	Q8TCU5	OTTHUMG00000020387	ENST00000361820.3:c.2767-15278C>T	9.37:g.104356920G>A						GRIN3A_ENST00000361820.3_Intron	p.A98V	NM_147180.2	NP_671709.1	Q96LZ3	CANB2_HUMAN			1	363	-		Acute lymphoblastic leukemia(62;0.0527)	95			EF-hand 3.		B3DLF9|Q5VTR3|Q8TF29|Q8WXI6	Missense_Mutation	SNP	ENST00000361820.3	37	c.293C>T	CCDS6758.1	.	.	.	.	.	.	.	.	.	.	G	24.0	4.481344	0.84747	.	.	ENSG00000188386	ENST00000374806;ENST00000541976	T	0.73047	-0.71	3.97	3.97	0.46021	EF-hand-like domain (1);	0.000000	0.41605	D	0.000843	T	0.68906	0.3052	L	0.52011	1.625	0.49389	D	0.999781	D	0.63880	0.993	P	0.46510	0.519	T	0.75025	-0.3463	10	0.87932	D	0	-17.7694	14.3488	0.66685	0.0:0.0:1.0:0.0	.	95	Q96LZ3	CANB2_HUMAN	V	98	ENSP00000363939:A98V	ENSP00000363939:A98V	A	-	2	0	PPP3R2	103396741	1.000000	0.71417	0.996000	0.52242	0.747000	0.42532	9.446000	0.97590	2.507000	0.84556	0.563000	0.77884	GCG		0.532	GRIN3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053453.1			4	122	0	0	0	1	0	4	122				
PCDHB8	56128	broad.mit.edu	37	5	140559652	140559652	+	Silent	SNP	A	A	G			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr5:140559652A>G	ENST00000239444.2	+	1	2282	c.2037A>G	c.(2035-2037)ccA>ccG	p.P679P	PCDHB16_ENST00000361016.2_5'Flank	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	protocadherin beta 8	679					homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AGGCTGCCCCAGCCCAGGGCC	0.677																																						ENST00000239444.2																			0				NS(2)|breast(1)|cervix(2)|endometrium(5)|kidney(6)|large_intestine(14)|liver(1)|lung(38)|prostate(6)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(2)	83						c.(2035-2037)ccA>ccG									65.0	64.0	64.0					5																	140559652		2198	4291	6489	SO:0001819	synonymous_variant	56128				homophilic cell adhesion	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140559652A>G	AF152501	CCDS4250.1	5q31	2010-01-26			ENSG00000120322	ENSG00000120322		"""Cadherins / Protocadherins : Clustered"""	8693	other	protocadherin		606334				10380929	Standard	NM_019120		Approved	PCDH-BETA8, PCDH3I	uc011dai.2	Q9UN66	OTTHUMG00000129621	ENST00000239444.2:c.2037A>G	5.37:g.140559652A>G							p.P679P	NM_019120.3	NP_061993.2	Q9UN66	PCDB8_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2282	+			679					B9EGV1	Silent	SNP	ENST00000239444.2	37	c.2037A>G	CCDS4250.1																																																																																				0.677	PCDHB8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251816.2	NM_019120		7	89	0	0	0	1	0	7	89				
MYO18A	399687	broad.mit.edu	37	17	27422004	27422004	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:27422004C>T	ENST00000527372.1	-	29	4639	c.4459G>A	c.(4459-4461)Gag>Aag	p.E1487K	MYO18A_ENST00000531253.1_Missense_Mutation_p.E1487K|MYO18A_ENST00000533112.1_Missense_Mutation_p.E1487K|MYO18A_ENST00000354329.4_Missense_Mutation_p.E1487K	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1487					actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			ATGTCCTTCTCCCGCTGCAGC	0.637																																					Esophageal Squamous(182;472 2015 7001 15270 22562)	ENST00000527372.1																			0				NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36						c.(4459-4461)Gag>Aag		myosin XVIIIA							24.0	27.0	26.0					17																	27422004		2079	4220	6299	SO:0001583	missense	399687				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity	g.chr17:27422004C>T	D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"""Myosins / Myosin superfamily : Class XVIII"""	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.4459G>A	17.37:g.27422004C>T	ENSP00000437073:p.Glu1487Lys					MYO18A_ENST00000531253.1_Missense_Mutation_p.E1487K|MYO18A_ENST00000354329.4_Missense_Mutation_p.E1487K|MYO18A_ENST00000533112.1_Missense_Mutation_p.E1487K	p.E1487K	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		29	4639	-			1487					Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP	ENST00000527372.1	37	c.4459G>A	CCDS45642.1	.	.	.	.	.	.	.	.	.	.	C	37	6.247033	0.97408	.	.	ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372;ENST00000529799;ENST00000540575;ENST00000458428	T;T;T;T	0.26223	1.75;1.75;1.75;1.75	5.8	5.8	0.92144	Myosin tail (1);	0.000000	0.85682	D	0.000000	T	0.55000	0.1893	M	0.83774	2.66	0.58432	D	0.999999	D;D;D;D;D	0.76494	0.999;0.961;0.961;0.961;0.975	D;P;P;P;P	0.74674	0.984;0.616;0.616;0.616;0.794	T	0.48479	-0.9032	10	0.21014	T	0.42	.	20.0609	0.97674	0.0:1.0:0.0:0.0	.	1156;1099;1487;1487;1487	Q92614-2;F8W6Y3;Q92614-3;Q92614-4;Q92614	.;.;.;.;MY18A_HUMAN	K	1487;1487;1487;1487;1487;383;383;1099	ENSP00000346291:E1487K;ENSP00000435932:E1487K;ENSP00000434228:E1487K;ENSP00000437073:E1487K	ENSP00000346291:E1487K	E	-	1	0	MYO18A	24446130	1.000000	0.71417	0.998000	0.56505	0.989000	0.77384	7.015000	0.76387	2.755000	0.94549	0.655000	0.94253	GAG		0.637	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	NM_078471		4	10	0	0	0	1	0	4	10				
NLRX1	79671	broad.mit.edu	37	11	119045286	119045286	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:119045286G>A	ENST00000409109.1	+	6	1561	c.974G>A	c.(973-975)cGc>cAc	p.R325H	NLRX1_ENST00000409991.1_Missense_Mutation_p.R325H|NLRX1_ENST00000409265.4_Missense_Mutation_p.R325H|NLRX1_ENST00000525863.1_Missense_Mutation_p.R325H|NLRX1_ENST00000292199.2_Missense_Mutation_p.R325H	NM_001282144.1	NP_001269073.1	Q86UT6	NLRX1_HUMAN	NLR family member X1	325	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.|Required for interaction with MAVS.			R -> C (in Ref. 4; BAG53014). {ECO:0000305}.	innate immune response (GO:0045087)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of inflammatory response (GO:0050728)|negative regulation of innate immune response (GO:0045824)|negative regulation of interferon-beta production (GO:0032688)|negative regulation of interleukin-6 production (GO:0032715)|negative regulation of RIG-I signaling pathway (GO:0039536)|negative regulation of type I interferon production (GO:0032480)|viral process (GO:0016032)	mitochondrial outer membrane (GO:0005741)	ATP binding (GO:0005524)			cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)		TTCCAGCTCCGCCTCAACCAG	0.602																																						ENST00000409109.1																			0				cervix(1)|endometrium(2)|kidney(2)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	22						c.(973-975)cGc>cAc		NLR family member X1							106.0	106.0	106.0					11																	119045286		2200	4295	6495	SO:0001583	missense	79671				innate immune response|interspecies interaction between organisms|negative regulation of type I interferon production	mitochondrial outer membrane	ATP binding	g.chr11:119045286G>A	AB094095	CCDS8416.1	11q23.3	2007-02-07			ENSG00000160703	ENSG00000160703		"""Nucleotide-binding domain and leucine rich repeat containing"""	29890	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat containing X1"", ""NOD-like receptor X1"", ""NLR family, X1"""	611947				12766759	Standard	XM_005271669		Approved	NOD9, CLR11.3	uc001pvw.3	Q86UT6	OTTHUMG00000154476	ENST00000409109.1:c.974G>A	11.37:g.119045286G>A	ENSP00000387334:p.Arg325His					NLRX1_ENST00000525863.1_Missense_Mutation_p.R325H|NLRX1_ENST00000409265.4_Missense_Mutation_p.R325H|NLRX1_ENST00000292199.2_Missense_Mutation_p.R325H|NLRX1_ENST00000409991.1_Missense_Mutation_p.R325H	p.R325H			Q86UT6	NLRX1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;7.7e-05)	6	1561	+	all_hematologic(175;0.0977)	Medulloblastoma(222;0.0425)|Breast(348;0.052)|all_neural(223;0.112)	325	R -> C (in Ref. 4; BAG53014).		NACHT.|Required for interaction with MAVS.		A8K6Q1|B3KPK2|B3KTA2|Q7RTR3|Q96D51|Q9H724	Missense_Mutation	SNP	ENST00000409109.1	37	c.974G>A	CCDS8416.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.601919	0.87055	.	.	ENSG00000160703	ENST00000409991;ENST00000292199;ENST00000409265;ENST00000409109;ENST00000525863	T;T;T;T;T	0.75154	-0.81;-0.81;-0.91;-0.81;-0.91	6.07	6.07	0.98685	.	0.069243	0.64402	D	0.000009	D	0.87849	0.6281	M	0.84948	2.725	0.58432	D	0.999999	D;D	0.89917	0.998;1.0	D;D	0.65874	0.917;0.939	D	0.87058	0.2151	10	0.49607	T	0.09	.	20.6439	0.99570	0.0:0.0:1.0:0.0	.	325;325	Q86UT6-2;Q86UT6	.;NLRX1_HUMAN	H	325	ENSP00000386851:R325H;ENSP00000292199:R325H;ENSP00000386858:R325H;ENSP00000387334:R325H;ENSP00000433442:R325H	ENSP00000292199:R325H	R	+	2	0	NLRX1	118550496	1.000000	0.71417	1.000000	0.80357	0.912000	0.54170	6.687000	0.74552	2.884000	0.98904	0.655000	0.94253	CGC		0.602	NLRX1-004	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335403.1	NM_170722		55	104	0	0	0	1	0	55	104				
SLC25A32	81034	broad.mit.edu	37	8	104427657	104427657	+	5'Flank	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr8:104427657G>A	ENST00000297578.4	-	0	0				DCAF13_ENST00000521999.1_3'UTR|DCAF13_ENST00000521716.1_5'UTR|DCAF13_ENST00000297579.5_Missense_Mutation_p.A147T|DCAF13_ENST00000519682.1_5'UTR|DCAF13_ENST00000521971.1_5'UTR|SLC25A32_ENST00000543107.1_5'Flank	NM_030780.3	NP_110407.2	Q9H2D1	MFTC_HUMAN	solute carrier family 25 (mitochondrial folate carrier), member 32						folic acid metabolic process (GO:0046655)|folic acid transport (GO:0015884)|mitochondrial transport (GO:0006839)|small molecule metabolic process (GO:0044281)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)	folic acid transporter activity (GO:0008517)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(2)|ovary(1)|pancreas(1)|upper_aerodigestive_tract(2)	9			OV - Ovarian serous cystadenocarcinoma(57;2.79e-06)|STAD - Stomach adenocarcinoma(118;0.197)		Folic Acid(DB00158)	GTGGAGTCCGGCCGGAAGAGC	0.567																																						ENST00000297579.5																			0				NS(1)|breast(1)|kidney(2)|large_intestine(8)|lung(8)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	25						c.(439-441)Gcc>Acc		DDB1 and CUL4 associated factor 13							32.0	37.0	35.0					8																	104427657		2202	4299	6501	SO:0001631	upstream_gene_variant	25879				rRNA processing	CUL4 RING ubiquitin ligase complex|nucleolus|ribonucleoprotein complex		g.chr8:104427657G>A	AF283645	CCDS6300.1	8q22.3	2013-05-22	2013-03-15		ENSG00000164933	ENSG00000164933		"""Solute carriers"""	29683	protein-coding gene	gene with protein product		610815	"""solute carrier family 25, member 32"""			10978331	Standard	NM_030780		Approved	MFTC	uc003yll.4	Q9H2D1	OTTHUMG00000164790		8.37:g.104427657G>A	Exception_encountered					DCAF13_ENST00000519682.1_5'UTR|DCAF13_ENST00000521971.1_5'UTR|DCAF13_ENST00000521999.1_3'UTR|DCAF13_ENST00000521716.1_5'UTR	p.A147T	NM_015420.6	NP_056235.4	Q9NV06	DCA13_HUMAN			1	716	+			0					Q96JZ6|Q96SU7	Missense_Mutation	SNP	ENST00000297578.4	37	c.439G>A	CCDS6300.1	.	.	.	.	.	.	.	.	.	.	G	13.53	2.264267	0.39995	.	.	ENSG00000164934	ENST00000297579	T	0.75260	-0.92	3.89	2.02	0.26589	.	11.205200	0.00559	N	0.000268	T	0.67297	0.2878	.	.	.	0.20403	N	0.99991	.	.	.	.	.	.	T	0.55016	-0.8206	7	0.46703	T	0.11	2.339	4.3824	0.11300	0.1118:0.0:0.492:0.3961	.	.	.	.	T	147	ENSP00000297579:A147T	ENSP00000297579:A147T	A	+	1	0	DCAF13	104496833	0.000000	0.05858	0.001000	0.08648	0.005000	0.04900	-0.848000	0.04326	0.561000	0.29186	0.655000	0.94253	GCC		0.567	SLC25A32-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380290.2	NM_030780		12	34	0	0	0	1	0	12	34				
KRTAP6-2	337967	broad.mit.edu	37	21	31971008	31971008	+	Silent	SNP	A	A	G			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr21:31971008A>G	ENST00000334897.3	-	1	211	c.186T>C	c.(184-186)taT>taC	p.Y62Y	KRTAP22-1_ENST00000334680.2_5'Flank	NM_181604.1	NP_853635.1	Q3LI66	KRA62_HUMAN	keratin associated protein 6-2	62						intermediate filament (GO:0005882)				endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11						GGTGTCCTCAATAGTAGTAGC	0.552																																						ENST00000334897.3																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(4)	11						c.(184-186)taT>taC		keratin associated protein 6-2							52.0	49.0	50.0					21																	31971008		2203	4300	6503	SO:0001819	synonymous_variant	337967					intermediate filament		g.chr21:31971008A>G	AP001708	CCDS13600.1	21q22.1	2011-02-10			ENSG00000186930	ENSG00000186930		"""Keratin associated proteins"""	18932	protein-coding gene	gene with protein product						12359730	Standard	NM_181604		Approved	KAP6.2	uc011adc.2	Q3LI66	OTTHUMG00000057794	ENST00000334897.3:c.186T>C	21.37:g.31971008A>G							p.Y62Y	NM_181604.1	NP_853635.1	Q3LI66	KRA62_HUMAN			1	211	-			62						Silent	SNP	ENST00000334897.3	37	c.186T>C	CCDS13600.1																																																																																				0.552	KRTAP6-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128246.3			19	38	0	0	0	1	0	19	38				
WSB1	26118	broad.mit.edu	37	17	25621434	25621434	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:25621434C>T	ENST00000262394.2	+	1	329	c.13C>T	c.(13-15)Ccc>Tcc	p.P5S	MIR4522_ENST00000584932.1_RNA|WSB1_ENST00000348811.2_Missense_Mutation_p.P5S|WSB1_ENST00000581185.1_Missense_Mutation_p.P5S|WSB1_ENST00000579733.1_Missense_Mutation_p.P5S|WSB1_ENST00000583193.1_Missense_Mutation_p.P5S|WSB1_ENST00000427287.2_Missense_Mutation_p.P5S|WSB1_ENST00000578312.1_3'UTR	NM_015626.8	NP_056441.6	Q9Y6I7	WSB1_HUMAN	WD repeat and SOCS box containing 1	5					intracellular signal transduction (GO:0035556)|protein ubiquitination (GO:0016567)	intracellular (GO:0005622)				lung(3)	3	all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152)		BRCA - Breast invasive adenocarcinoma(3;0.0152)	UCEC - Uterine corpus endometrioid carcinoma (53;0.154)		GGCCAGCTTTCCCCCGAGGGT	0.627																																						ENST00000262394.2																			0				lung(3)	3						c.(13-15)Ccc>Tcc		WD repeat and SOCS box containing 1							116.0	106.0	110.0					17																	25621434		2203	4300	6503	SO:0001583	missense	26118				intracellular signal transduction	intracellular	protein binding	g.chr17:25621434C>T	AF069313	CCDS11220.1, CCDS11221.1	17q11.2	2013-01-09	2011-01-25		ENSG00000109046	ENSG00000109046		"""WD repeat domain containing"""	19221	protein-coding gene	gene with protein product		610091	"""WD repeat and SOCS box-containing 1"""			10354473, 12076535	Standard	XR_243778		Approved	DKFZp564A122, DKFZp564B0482, SWIP1	uc002gzd.1	Q9Y6I7	OTTHUMG00000132293	ENST00000262394.2:c.13C>T	17.37:g.25621434C>T	ENSP00000262394:p.Pro5Ser					WSB1_ENST00000581185.1_Missense_Mutation_p.P5S|WSB1_ENST00000578312.1_3'UTR|WSB1_ENST00000579733.1_Missense_Mutation_p.P5S|WSB1_ENST00000583193.1_Missense_Mutation_p.P5S|WSB1_ENST00000348811.2_Missense_Mutation_p.P5S|WSB1_ENST00000427287.2_Missense_Mutation_p.P5S	p.P5S	NM_015626.8	NP_056441.6	Q9Y6I7	WSB1_HUMAN	BRCA - Breast invasive adenocarcinoma(3;0.0152)	UCEC - Uterine corpus endometrioid carcinoma (53;0.154)	1	329	+	all_cancers(1;2e-13)|all_epithelial(1;4.8e-15)|Lung NSC(42;0.00152)		5					Q9NRB1|Q9UBH9|Q9UG25|Q9UNN6|Q9Y656	Missense_Mutation	SNP	ENST00000262394.2	37	c.13C>T	CCDS11220.1	.	.	.	.	.	.	.	.	.	.	C	18.11	3.550054	0.65311	.	.	ENSG00000109046	ENST00000262394;ENST00000427287;ENST00000348811	T;T;T	0.61627	0.68;0.23;0.09	5.31	2.26	0.28386	.	0.444083	0.21198	N	0.078517	T	0.66790	0.2825	L	0.53249	1.67	0.23132	N	0.998244	D;D;B;D	0.89917	1.0;1.0;0.0;1.0	D;D;B;D	0.80764	0.992;0.994;0.002;0.992	T	0.56251	-0.8010	10	0.72032	D	0.01	-15.5098	7.8474	0.29433	0.0:0.7409:0.0:0.2591	.	5;5;5;5	B4DGB8;B4DTL1;Q9Y6I7-2;Q9Y6I7	.;.;.;WSB1_HUMAN	S	5	ENSP00000262394:P5S;ENSP00000416112:P5S;ENSP00000327055:P5S	ENSP00000262394:P5S	P	+	1	0	WSB1	22645561	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	0.777000	0.26718	0.248000	0.21435	0.591000	0.81541	CCC		0.627	WSB1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255391.4	NM_015626		41	107	0	0	0	1	0	41	107				
SEC23A	10484	broad.mit.edu	37	14	39554995	39554995	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr14:39554995C>T	ENST00000307712.6	-	7	1316	c.799G>A	c.(799-801)Gca>Aca	p.A267T	SEC23A_ENST00000545328.2_Missense_Mutation_p.A238T|SEC23A_ENST00000536508.1_Missense_Mutation_p.A141T|SEC23A_ENST00000537403.1_Missense_Mutation_p.A65T	NM_006364.2	NP_006355.2	Q15436	SC23A_HUMAN	Sec23 homolog A (S. cerevisiae)	267					antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular protein metabolic process (GO:0044267)|COPII vesicle coating (GO:0048208)|ER to Golgi vesicle-mediated transport (GO:0006888)|intracellular protein transport (GO:0006886)|membrane organization (GO:0061024)|post-translational protein modification (GO:0043687)|protein N-linked glycosylation via asparagine (GO:0018279)|small molecule metabolic process (GO:0044281)|vesicle-mediated transport (GO:0016192)	COPII vesicle coat (GO:0030127)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|perinuclear region of cytoplasm (GO:0048471)	zinc ion binding (GO:0008270)	p.A267T(1)		kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23	Hepatocellular(127;0.213)		Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)		ATGGAAAGTGCCACCCCAGAG	0.488																																						ENST00000537403.1																			1	Substitution - Missense(1)	p.A267T(1)	kidney(1)	kidney(2)|large_intestine(3)|liver(1)|lung(11)|ovary(4)|pancreas(1)|upper_aerodigestive_tract(1)	23						c.(193-195)Gca>Aca		Sec23 homolog A (S. cerevisiae)							151.0	136.0	141.0					14																	39554995		2203	4300	6503	SO:0001583	missense	10484				COPII vesicle coating|intracellular protein transport|post-translational protein modification|protein N-linked glycosylation via asparagine	COPII vesicle coat|cytosol|Golgi membrane|smooth endoplasmic reticulum membrane	protein binding|zinc ion binding	g.chr14:39554995C>T	X97064	CCDS9668.1	14q21.1	2008-05-14	2001-11-28		ENSG00000100934	ENSG00000100934			10701	protein-coding gene	gene with protein product		610511	"""Sec23 (S. cerevisiae) homolog A"""			8898360, 10329445	Standard	NM_006364		Approved		uc001wup.1	Q15436	OTTHUMG00000028812	ENST00000307712.6:c.799G>A	14.37:g.39554995C>T	ENSP00000306881:p.Ala267Thr					SEC23A_ENST00000307712.6_Missense_Mutation_p.A267T|SEC23A_ENST00000536508.1_Missense_Mutation_p.A141T|SEC23A_ENST00000545328.2_Missense_Mutation_p.A238T	p.A65T			Q15436	SC23A_HUMAN	Lung(238;0.00047)|LUAD - Lung adenocarcinoma(48;0.000565)	GBM - Glioblastoma multiforme(112;0.0151)	3	1395	-	Hepatocellular(127;0.213)		267					B2R5P4|B3KXI2|Q8NE16	Missense_Mutation	SNP	ENST00000307712.6	37	c.193G>A	CCDS9668.1	.	.	.	.	.	.	.	.	.	.	C	36	5.843883	0.97016	.	.	ENSG00000100934	ENST00000537403;ENST00000307712;ENST00000536508;ENST00000545328;ENST00000554645	D;D;D;D	0.90732	-2.72;-2.72;-2.72;-2.72	5.8	5.8	0.92144	Sec23/Sec24, trunk domain (1);	0.000000	0.85682	D	0.000000	D	0.97387	0.9145	H	0.97415	4	0.80722	D	1	D;D;D;D	0.76494	0.999;0.996;0.998;0.997	D;D;D;D	0.77004	0.988;0.981;0.981;0.989	D	0.98185	1.0459	10	0.87932	D	0	-15.861	20.0467	0.97609	0.0:1.0:0.0:0.0	.	155;238;141;267	G3V531;F5H365;F5H6C4;Q15436	.;.;.;SC23A_HUMAN	T	65;267;141;238;155	ENSP00000444193:A65T;ENSP00000306881:A267T;ENSP00000437715:A141T;ENSP00000445393:A238T	ENSP00000306881:A267T	A	-	1	0	SEC23A	38624746	1.000000	0.71417	1.000000	0.80357	0.993000	0.82548	7.788000	0.85771	2.749000	0.94314	0.655000	0.94253	GCA		0.488	SEC23A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276728.2			47	48	0	0	0	1	0	47	48				
PTCHD2	57540	broad.mit.edu	37	1	11562134	11562134	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:11562134C>T	ENST00000294484.6	+	2	1223	c.1085C>T	c.(1084-1086)gCg>gTg	p.A362V	PTCHD2_ENST00000389575.3_Missense_Mutation_p.A362V	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN	patched domain containing 2	362					cholesterol homeostasis (GO:0042632)|regulation of lipid transport (GO:0032368)|smoothened signaling pathway (GO:0007224)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|nuclear membrane (GO:0031965)	hedgehog receptor activity (GO:0008158)			NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)		CAGGACCTGGCGGACATCCGG	0.627																																						ENST00000294484.6																			0				NS(3)|breast(2)|endometrium(9)|kidney(4)|large_intestine(5)|lung(34)|ovary(3)|pancreas(1)|prostate(6)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(3)	76						c.(1084-1086)gCg>gTg		patched domain containing 2							27.0	30.0	29.0					1																	11562134		1887	4112	5999	SO:0001583	missense	57540				cholesterol homeostasis|regulation of lipid transport|smoothened signaling pathway	endoplasmic reticulum|integral to membrane|nuclear membrane	hedgehog receptor activity	g.chr1:11562134C>T	AB037758	CCDS41247.1	1p36.22	2010-02-17			ENSG00000204624	ENSG00000204624			29251	protein-coding gene	gene with protein product		611251				15738394	Standard	NM_020780		Approved	KIAA1337, DISP3	uc001ash.4	Q9P2K9	OTTHUMG00000002074	ENST00000294484.6:c.1085C>T	1.37:g.11562134C>T	ENSP00000294484:p.Ala362Val					PTCHD2_ENST00000389575.3_Missense_Mutation_p.A362V	p.A362V	NM_020780.1	NP_065831.1	Q9P2K9	PTHD2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;3.13e-07)|COAD - Colon adenocarcinoma(227;4.83e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000325)|Kidney(185;0.000877)|KIRC - Kidney renal clear cell carcinoma(229;0.00273)|STAD - Stomach adenocarcinoma(313;0.00766)|READ - Rectum adenocarcinoma(331;0.0549)	2	1223	+	Ovarian(185;0.249)	Lung NSC(185;4.16e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	362					Q5VTU9|Q9UJD6	Missense_Mutation	SNP	ENST00000294484.6	37	c.1085C>T	CCDS41247.1	.	.	.	.	.	.	.	.	.	.	C	26.5	4.742274	0.89573	.	.	ENSG00000204624	ENST00000294484;ENST00000389575	T;T	0.20598	2.06;2.06	5.32	5.32	0.75619	.	0.000000	0.85682	D	0.000000	T	0.35799	0.0944	L	0.27053	0.805	0.80722	D	1	D	0.89917	1.0	D	0.83275	0.996	T	0.13415	-1.0510	10	0.59425	D	0.04	-32.3793	18.0244	0.89264	0.0:1.0:0.0:0.0	.	362	Q9P2K9	PTHD2_HUMAN	V	362	ENSP00000294484:A362V;ENSP00000374226:A362V	ENSP00000294484:A362V	A	+	2	0	PTCHD2	11484721	1.000000	0.71417	0.991000	0.47740	0.822000	0.46500	7.483000	0.81158	2.495000	0.84180	0.655000	0.94253	GCG		0.627	PTCHD2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000005770.2	XM_052561		15	46	0	0	0	1	0	15	46				
XIRP2	129446	broad.mit.edu	37	2	167760330	167760330	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:167760330C>G	ENST00000409728.1	+	2	427	c.338C>G	c.(337-339)gCc>gGc	p.A113G	XIRP2_ENST00000409756.2_Missense_Mutation_p.A113G|XIRP2_ENST00000409195.1_Missense_Mutation_p.A113G|XIRP2_ENST00000409043.1_Missense_Mutation_p.A113G|XIRP2_ENST00000295237.9_Missense_Mutation_p.A113G|XIRP2_ENST00000420519.1_Missense_Mutation_p.A113G	NM_001199143.1	NP_001186072.1	A4UGR9	XIRP2_HUMAN	xin actin-binding repeat containing 2	0					actin cytoskeleton organization (GO:0030036)|cardiac muscle tissue morphogenesis (GO:0055008)|cell-cell junction organization (GO:0045216)|ventricular septum development (GO:0003281)	cell junction (GO:0030054)|Z disc (GO:0030018)				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						TTTTCCATTGCCCTTGATGAG	0.498																																						ENST00000409195.1																			0				NS(3)|biliary_tract(2)|breast(5)|cervix(3)|endometrium(16)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(51)|lung(160)|ovary(7)|pancreas(3)|prostate(11)|skin(14)|stomach(5)|upper_aerodigestive_tract(8)|urinary_tract(7)	315						c.(337-339)gCc>gGc		xin actin-binding repeat containing 2							125.0	128.0	127.0					2																	167760330		2016	4166	6182	SO:0001583	missense	129446				actin cytoskeleton organization	cell junction	actin binding	g.chr2:167760330C>G	AK056582	CCDS42768.1, CCDS42769.1, CCDS56143.1, CCDS56144.1, CCDS56145.1	2q31.1	2013-10-25	2007-06-27	2007-06-27	ENSG00000163092	ENSG00000163092			14303	protein-coding gene	gene with protein product	"""myomaxin"""	609778	"""cardiomyopathy associated 3"""	CMYA3		17046827, 12203715, 15454575	Standard	NM_001079810		Approved		uc002udx.3	A4UGR9	OTTHUMG00000154027	ENST00000409728.1:c.338C>G	2.37:g.167760330C>G	ENSP00000386619:p.Ala113Gly					XIRP2_ENST00000295237.9_Missense_Mutation_p.A113G|XIRP2_ENST00000409043.1_Missense_Mutation_p.A113G|XIRP2_ENST00000409756.2_Missense_Mutation_p.A113G|XIRP2_ENST00000420519.1_Missense_Mutation_p.A113G|XIRP2_ENST00000409728.1_Missense_Mutation_p.A113G	p.A113G	NM_152381.5	NP_689594.4	A4UGR9	XIRP2_HUMAN			2	427	+			0					A0PJ94|B2BBS0|B2BBS1|B2BBS4|B3KVH0|J3KNB1|Q53R52|Q5MJ67|Q702N7|Q86T36|Q86T38|Q86T46|Q86T51|Q86T53|Q86T55|Q86T79|Q86TB6|Q8N1M9|Q8N3R5|Q8TBV6	Missense_Mutation	SNP	ENST00000409728.1	37	c.338C>G	CCDS56143.1	.	.	.	.	.	.	.	.	.	.	C	15.07	2.725424	0.48833	.	.	ENSG00000163092	ENST00000409043;ENST00000409728;ENST00000409195;ENST00000409756;ENST00000420519;ENST00000295237	D;D;T;D;D;T	0.84070	-1.79;-1.8;3.58;-1.79;-1.8;3.58	5.12	5.12	0.69794	.	.	.	.	.	T	0.76449	0.3989	.	.	.	0.23962	N	0.996339	P;P	0.49961	0.93;0.93	B;B	0.41510	0.359;0.359	T	0.67875	-0.5557	8	0.28530	T	0.3	-0.3386	14.0425	0.64684	0.0:1.0:0.0:0.0	.	113;113	A4UGR9-4;A4UGR9-6	.;.	G	113	ENSP00000386454:A113G;ENSP00000386619:A113G;ENSP00000386840:A113G;ENSP00000386724:A113G;ENSP00000415541:A113G;ENSP00000295237:A113G	ENSP00000295237:A113G	A	+	2	0	XIRP2	167468576	1.000000	0.71417	0.932000	0.37286	0.187000	0.23431	3.757000	0.55212	2.390000	0.81377	0.655000	0.94253	GCC		0.498	XIRP2-006	NOVEL	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000333552.1	NM_152381		22	55	0	0	0	1	0	22	55				
LRRK2	120892	broad.mit.edu	37	12	40629508	40629508	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr12:40629508T>A	ENST00000298910.7	+	4	486	c.428T>A	c.(427-429)cTa>cAa	p.L143Q	LRRK2_ENST00000343742.2_Missense_Mutation_p.L143Q	NM_198578.3	NP_940980	Q5S007	LRRK2_HUMAN	leucine-rich repeat kinase 2	143					activation of MAPK activity (GO:0000187)|activation of MAPKK activity (GO:0000186)|autophagy (GO:0006914)|cellular protein localization (GO:0034613)|cellular response to dopamine (GO:1903351)|cellular response to manganese ion (GO:0071287)|cellular response to oxidative stress (GO:0034599)|determination of adult lifespan (GO:0008340)|endocytosis (GO:0006897)|exploration behavior (GO:0035640)|GTP catabolic process (GO:0006184)|intracellular distribution of mitochondria (GO:0048312)|intracellular signal transduction (GO:0035556)|locomotory exploration behavior (GO:0035641)|MAPK cascade (GO:0000165)|negative regulation of GTPase activity (GO:0034260)|negative regulation of hydrogen peroxide-induced cell death (GO:1903206)|negative regulation of late endosome to lysosome transport (GO:1902823)|negative regulation of peroxidase activity (GO:2000469)|negative regulation of protein binding (GO:0032091)|negative regulation of protein phosphorylation (GO:0001933)|negative regulation of protein processing (GO:0010955)|negative regulation of protein processing involved in protein targeting to mitochondrion (GO:1903217)|negative regulation of protein targeting to mitochondrion (GO:1903215)|negative regulation of thioredoxin peroxidase activity by peptidyl-threonine phosphorylation (GO:1903125)|neuromuscular junction development (GO:0007528)|neuron death (GO:0070997)|neuron projection morphogenesis (GO:0048812)|olfactory bulb development (GO:0021772)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of autophagy (GO:0010508)|positive regulation of dopamine receptor signaling pathway (GO:0060161)|positive regulation of GTPase activity (GO:0043547)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of programmed cell death (GO:0043068)|positive regulation of proteasomal ubiquitin-dependent protein catabolic process (GO:0032436)|positive regulation of protein autoubiquitination (GO:1902499)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of protein ubiquitination (GO:0031398)|protein autophosphorylation (GO:0046777)|protein phosphorylation (GO:0006468)|reactive oxygen species metabolic process (GO:0072593)|regulation of branching morphogenesis of a nerve (GO:2000172)|regulation of dendritic spine morphogenesis (GO:0061001)|regulation of dopamine receptor signaling pathway (GO:0060159)|regulation of excitatory postsynaptic membrane potential (GO:0060079)|regulation of kidney size (GO:0035564)|regulation of locomotion (GO:0040012)|regulation of membrane potential (GO:0042391)|regulation of mitochondrial depolarization (GO:0051900)|regulation of neuroblast proliferation (GO:1902692)|regulation of neuron death (GO:1901214)|regulation of neuron maturation (GO:0014041)|regulation of protein kinase A signaling (GO:0010738)|regulation of synaptic transmission, glutamatergic (GO:0051966)|regulation of synaptic vesicle exocytosis (GO:2000300)|regulation of synaptic vesicle transport (GO:1902803)|response to oxidative stress (GO:0006979)|small GTPase mediated signal transduction (GO:0007264)|tangential migration from the subventricular zone to the olfactory bulb (GO:0022028)	axon (GO:0030424)|cytoplasm (GO:0005737)|cytoplasmic side of mitochondrial outer membrane (GO:0032473)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)|dendrite (GO:0030425)|dendrite cytoplasm (GO:0032839)|endoplasmic reticulum (GO:0005783)|endosome (GO:0005768)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|inclusion body (GO:0016234)|lysosome (GO:0005764)|membrane raft (GO:0045121)|mitochondrial inner membrane (GO:0005743)|mitochondrial matrix (GO:0005759)|mitochondrial membrane (GO:0031966)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|plasma membrane (GO:0005886)|synaptic vesicle (GO:0008021)|terminal bouton (GO:0043195)|trans-Golgi network (GO:0005802)	actin binding (GO:0003779)|ATP binding (GO:0005524)|clathrin binding (GO:0030276)|glycoprotein binding (GO:0001948)|GTP binding (GO:0005525)|GTP-dependent protein kinase activity (GO:0034211)|GTPase activator activity (GO:0005096)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|ion channel binding (GO:0044325)|kinase activity (GO:0016301)|MAP kinase kinase activity (GO:0004708)|peroxidase inhibitor activity (GO:0036479)|protein homodimerization activity (GO:0042803)|protein kinase A binding (GO:0051018)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|Rho GTPase binding (GO:0017048)|SNARE binding (GO:0000149)|syntaxin-1 binding (GO:0017075)|tubulin binding (GO:0015631)			NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)				GATCTCCTCCTAACTTCAGGT	0.294																																						ENST00000298910.7																			0				NS(3)|biliary_tract(1)|breast(6)|central_nervous_system(2)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(23)|large_intestine(31)|lung(55)|ovary(15)|pancreas(2)|prostate(4)|skin(4)|stomach(9)|upper_aerodigestive_tract(7)|urinary_tract(2)	181						c.(427-429)cTa>cAa		leucine-rich repeat kinase 2							169.0	147.0	155.0					12																	40629508		2203	4300	6503	SO:0001583	missense	120892				activation of MAPKK activity|determination of adult lifespan|exploration behavior|intracellular distribution of mitochondria|negative regulation of branching morphogenesis of a nerve|negative regulation of dendritic spine morphogenesis|negative regulation of neuroblast proliferation|negative regulation of neuron maturation|neuromuscular junction development|neuron death|peptidyl-serine phosphorylation|positive regulation of autophagy|positive regulation of dopamine receptor signaling pathway|positive regulation of programmed cell death|positive regulation of proteasomal ubiquitin-dependent protein catabolic process|positive regulation of protein phosphorylation|positive regulation of protein ubiquitination|protein autophosphorylation|regulation of kidney size|regulation of locomotion|regulation of membrane potential|response to oxidative stress|small GTPase mediated signal transduction|tangential migration from the subventricular zone to the olfactory bulb	external side of mitochondrial outer membrane	ATP binding|GTP binding|GTP-dependent protein kinase activity|GTPase activator activity|MAP kinase kinase activity|protein homodimerization activity|tubulin binding	g.chr12:40629508T>A	AK026776	CCDS31774.1	12q12	2011-07-21			ENSG00000188906	ENSG00000188906		"""Parkinson disease"""	18618	protein-coding gene	gene with protein product		609007	"""Parkinson disease (autosomal dominant) 8"""	PARK8		15541308	Standard	NM_198578		Approved	ROCO2, DKFZp434H2111, FLJ45829, RIPK7	uc001rmg.4	Q5S007	OTTHUMG00000059742	ENST00000298910.7:c.428T>A	12.37:g.40629508T>A	ENSP00000298910:p.Leu143Gln					LRRK2_ENST00000343742.2_Missense_Mutation_p.L143Q	p.L143Q	NM_198578.3	NP_940980.3	Q5S007	LRRK2_HUMAN			4	486	+	all_cancers(12;0.00108)|Breast(8;0.218)	Lung NSC(34;0.0942)|all_lung(34;0.11)	143					A6NJU2|Q6ZS50|Q8NCX9	Missense_Mutation	SNP	ENST00000298910.7	37	c.428T>A	CCDS31774.1	.	.	.	.	.	.	.	.	.	.	T	20.9	4.063695	0.76187	.	.	ENSG00000188906	ENST00000416796;ENST00000343742;ENST00000298910	T;T;T	0.53640	1.73;0.61;1.73	5.64	5.64	0.86602	.	0.000000	0.64402	D	0.000003	T	0.65481	0.2695	L	0.59436	1.845	0.53005	D	0.999962	D	0.89917	1.0	D	0.91635	0.999	T	0.68462	-0.5402	10	0.87932	D	0	.	14.836	0.70183	0.0:0.0:0.0:1.0	.	143	Q5S007	LRRK2_HUMAN	Q	72;143;143	ENSP00000398726:L72Q;ENSP00000341930:L143Q;ENSP00000298910:L143Q	ENSP00000298910:L143Q	L	+	2	0	LRRK2	38915775	1.000000	0.71417	0.912000	0.35992	0.979000	0.70002	5.669000	0.68081	2.131000	0.65755	0.533000	0.62120	CTA		0.294	LRRK2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277179.1	XM_058513		11	40	0	0	0	1	0	11	40				
DNAH8	1769	broad.mit.edu	37	6	38889169	38889169	+	Silent	SNP	C	C	A	rs368736066		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr6:38889169C>A	ENST00000359357.3	+	69	10152	c.9898C>A	c.(9898-9900)Cgg>Agg	p.R3300R	RP1-207H1.3_ENST00000418399.1_RNA|DNAH8_ENST00000441566.1_Silent_p.R3264R|RP1-207H1.3_ENST00000416948.1_RNA|DNAH8_ENST00000449981.2_Silent_p.R3517R			Q96JB1	DYH8_HUMAN	dynein, axonemal, heavy chain 8	3300	Stalk. {ECO:0000250}.				cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)|microtubule-based movement (GO:0007018)	axonemal dynein complex (GO:0005858)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)			NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						GCAGGAAGGCCGGTTAGCAGT	0.458																																						ENST00000359357.3																			0				NS(7)|breast(9)|central_nervous_system(4)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(3)|kidney(16)|large_intestine(44)|liver(4)|lung(101)|ovary(7)|pancreas(2)|prostate(8)|skin(28)|stomach(4)|upper_aerodigestive_tract(6)|urinary_tract(4)	260						c.(9898-9900)Cgg>Agg		dynein, axonemal, heavy chain 8							66.0	66.0	66.0					6																	38889169		2203	4300	6503	SO:0001819	synonymous_variant	1769							g.chr6:38889169C>A	Z83806	CCDS75447.1	6p21.2	2012-04-19	2006-09-04		ENSG00000124721	ENSG00000124721		"""Axonemal dyneins"""	2952	protein-coding gene	gene with protein product		603337	"""dynein, axonemal, heavy polypeptide 8"""			9373155	Standard	NM_001206927		Approved	hdhc9	uc021yzh.1	Q96JB1	OTTHUMG00000016253	ENST00000359357.3:c.9898C>A	6.37:g.38889169C>A						DNAH8_ENST00000449981.2_Silent_p.R3517R|DNAH8_ENST00000441566.1_Silent_p.R3264R	p.R3300R							69	10152	+								O00438|Q5JYI2|Q5T2M3|Q5T2M4|Q5TG00|Q9UEM4	Silent	SNP	ENST00000359357.3	37	c.9898C>A																																																																																					0.458	DNAH8-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000043574.1	NM_001206927		10	18	1	0	7.48243e-07	1	7.98993e-07	10	18				
VWA3B	200403	broad.mit.edu	37	2	98736107	98736107	+	Silent	SNP	C	C	T	rs375112578		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:98736107C>T	ENST00000477737.1	+	4	627	c.423C>T	c.(421-423)tgC>tgT	p.C141C	VWA3B_ENST00000451075.2_Intron|VWA3B_ENST00000435344.1_Silent_p.C141C	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN	von Willebrand factor A domain containing 3B	141										NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						TGGAACAGTGCGTCACCATAG	0.517																																						ENST00000477737.1																			0				NS(3)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(10)|lung(33)|ovary(3)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	70						c.(421-423)tgC>tgT		von Willebrand factor A domain containing 3B		C		0,3992		0,0,1996	190.0	186.0	187.0		423	-2.5	0.0	2		187	1,8307		0,1,4153	no	coding-synonymous	VWA3B	NM_144992.4		0,1,6149	TT,TC,CC		0.012,0.0,0.0081		141/1295	98736107	1,12299	1996	4154	6150	SO:0001819	synonymous_variant	200403							g.chr2:98736107C>T	AL832761	CCDS42718.1	2q11.2	2008-02-05			ENSG00000168658	ENSG00000168658			28385	protein-coding gene	gene with protein product						12477932	Standard	NM_144992		Approved	DKFZp686F2227, MGC26733	uc002syo.3	Q502W6	OTTHUMG00000153104	ENST00000477737.1:c.423C>T	2.37:g.98736107C>T						VWA3B_ENST00000451075.2_Intron|VWA3B_ENST00000435344.1_Silent_p.C141C	p.C141C	NM_144992.4	NP_659429.4	Q502W6	VWA3B_HUMAN			4	627	+			141					B9EK71|Q86T73|Q8N2D0|Q8N770|Q8NA79|Q8ND63|Q8ND65|Q8WW02	Silent	SNP	ENST00000477737.1	37	c.423C>T	CCDS42718.1																																																																																				0.517	VWA3B-020	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000353469.2	NM_144992		76	171	0	0	0	1	0	76	171				
APH1A	51107	broad.mit.edu	37	1	150241169	150241169	+	Silent	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:150241169G>A	ENST00000369109.3	-	1	230	c.42C>T	c.(40-42)ttC>ttT	p.F14F	APH1A_ENST00000360244.4_Silent_p.F14F|C1orf54_ENST00000369102.1_5'UTR|APH1A_ENST00000461320.1_5'UTR|APH1A_ENST00000414276.2_Silent_p.F14F	NM_001077628.2	NP_001071096.1	Q96BI3	APH1A_HUMAN	APH1A gamma secretase subunit	14					amyloid precursor protein catabolic process (GO:0042987)|apoptotic signaling pathway (GO:0097190)|membrane protein ectodomain proteolysis (GO:0006509)|membrane protein intracellular domain proteolysis (GO:0031293)|metanephros development (GO:0001656)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of apoptotic process (GO:0043065)|positive regulation of catalytic activity (GO:0043085)|protein processing (GO:0016485)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	endopeptidase activity (GO:0004175)			breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		LUSC - Lung squamous cell carcinoma(543;0.171)			AGGCCGGGCCGAACGCGACGA	0.662																																						ENST00000360244.4																			0				breast(1)|lung(4)|ovary(1)|skin(1)|urinary_tract(2)	9						c.(40-42)ttC>ttT		APH1A gamma secretase subunit							25.0	32.0	30.0					1																	150241169		1887	4094	5981	SO:0001819	synonymous_variant	51107				amyloid precursor protein catabolic process|apoptosis|induction of apoptosis by extracellular signals|membrane protein ectodomain proteolysis|membrane protein intracellular domain proteolysis|nerve growth factor receptor signaling pathway|Notch receptor processing|Notch signaling pathway|positive regulation of catalytic activity|protein processing	endoplasmic reticulum membrane|Golgi cisterna membrane|integral to plasma membrane	protein binding	g.chr1:150241169G>A	AF151835	CCDS41390.1, CCDS41391.1, CCDS58025.1	1q21.2	2013-05-01	2013-05-01		ENSG00000117362	ENSG00000117362			29509	protein-coding gene	gene with protein product		607629	"""anterior pharynx defective 1 homolog A (C. elegans)"""			10810093, 12110170	Standard	NM_001077628		Approved	APH-1A, CGI-78	uc001ety.2	Q96BI3	OTTHUMG00000012545	ENST00000369109.3:c.42C>T	1.37:g.150241169G>A						APH1A_ENST00000414276.2_Silent_p.F14F|C1orf54_ENST00000369102.1_5'UTR|APH1A_ENST00000461320.1_5'UTR|APH1A_ENST00000369109.3_Silent_p.F14F	p.F14F	NM_016022.3	NP_057106.2	Q96BI3	APH1A_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.171)		1	534	-	Lung NSC(24;7.29e-29)|Breast(34;0.00211)|Ovarian(49;0.0167)|all_hematologic(923;0.0597)|Hepatocellular(266;0.161)|Colorectal(459;0.171)		14					B4DQK0|Q5TB22|Q5TB23|Q969R6|Q9BVG0|Q9Y386	Silent	SNP	ENST00000369109.3	37	c.42C>T	CCDS41390.1																																																																																				0.662	APH1A-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000035048.1	NM_016022		6	20	0	0	0	1	0	6	20				
PCDHA3	56145	broad.mit.edu	37	5	140181353	140181353	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr5:140181353T>C	ENST00000522353.2	+	1	571	c.571T>C	c.(571-573)Tcc>Ccc	p.S191P	PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.S191P|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Intron	NM_018906.2	NP_061729.1	Q9Y5H8	PCDA3_HUMAN	protocadherin alpha 3	191	Cadherin 2. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GGAAATTAAATCCCTTGGACT	0.363																																						ENST00000522353.2																			0				NS(1)|breast(1)|endometrium(16)|kidney(3)|large_intestine(19)|lung(36)|ovary(7)|prostate(8)|skin(3)|stomach(1)	95						c.(571-573)Tcc>Ccc									60.0	63.0	62.0					5																	140181353		2203	4300	6503	SO:0001583	missense	56145							g.chr5:140181353T>C	AF152481	CCDS54915.1	5q31	2010-11-26				ENSG00000255408		"""Cadherins / Protocadherins : Clustered"""	8669	other	complex locus constituent	"""KIAA0345-like 11"""	606309				10380929	Standard	NM_018906		Approved	PCDH-ALPHA3		Q9Y5H8		ENST00000522353.2:c.571T>C	5.37:g.140181353T>C	ENSP00000429808:p.Ser191Pro					PCDHA2_ENST00000526136.1_Intron|PCDHA3_ENST00000532566.2_Missense_Mutation_p.S191P|PCDHA1_ENST00000394633.3_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA2_ENST00000520672.2_Intron	p.S191P	NM_018906.2	NP_061729.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	571	+								O75286	Missense_Mutation	SNP	ENST00000522353.2	37	c.571T>C	CCDS54915.1	.	.	.	.	.	.	.	.	.	.	t	4.399	0.073649	0.08485	.	.	ENSG00000255408	ENST00000522353;ENST00000532566	T;T	0.23348	1.91;1.91	4.86	3.65	0.41850	Cadherin (4);Cadherin-like (1);	0.178548	0.26847	U	0.022190	T	0.21427	0.0516	L	0.42245	1.32	0.26690	N	0.971361	B;B	0.16802	0.019;0.007	B;B	0.16289	0.015;0.013	T	0.13229	-1.0517	10	0.35671	T	0.21	.	10.7955	0.46457	0.0:0.0767:0.0:0.9233	.	191;191	Q9Y5H8-2;Q9Y5H8	.;PCDA3_HUMAN	P	191	ENSP00000429808:S191P;ENSP00000434086:S191P	ENSP00000429808:S191P	S	+	1	0	PCDHA3	140161537	0.000000	0.05858	0.793000	0.32043	0.236000	0.25371	-0.571000	0.05889	0.779000	0.33543	0.383000	0.25322	TCC		0.363	PCDHA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372848.2	NM_018906		25	70	0	0	0	1	0	25	70				
XKRX	402415	broad.mit.edu	37	X	100183210	100183210	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chrX:100183210G>T	ENST00000372956.2	-	1	688	c.84C>A	c.(82-84)aaC>aaA	p.N28K	XKRX_ENST00000468904.1_Missense_Mutation_p.N28K|XKRX_ENST00000328526.5_Missense_Mutation_p.N41K			Q6PP77	XKR2_HUMAN	XK, Kell blood group complex subunit-related, X-linked	28						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3)	22						TAAATCGGGGGTTGGCTCCAC	0.443																																						ENST00000328526.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(4)|lung(8)|ovary(1)|prostate(1)|skin(3)	22						c.(121-123)aaC>aaA		XK, Kell blood group complex subunit-related, X-linked							160.0	151.0	154.0					X																	100183210		2203	4300	6503	SO:0001583	missense	402415					integral to membrane|plasma membrane		g.chrX:100183210G>T	AY589511	CCDS14476.1, CCDS14476.2	Xq22	2008-02-05	2006-01-12		ENSG00000182489	ENSG00000182489			29845	protein-coding gene	gene with protein product		300684	"""X Kell blood group precursor-related, X-linked"""				Standard	NM_212559		Approved	XPLAC, XKR2	uc004egn.2	Q6PP77	OTTHUMG00000022010	ENST00000372956.2:c.84C>A	X.37:g.100183210G>T	ENSP00000362047:p.Asn28Lys					XKRX_ENST00000372956.2_Missense_Mutation_p.N28K|XKRX_ENST00000468904.1_Missense_Mutation_p.N28K	p.N41K	NM_212559.2	NP_997724.2	Q6PP77	XKR2_HUMAN			1	688	-			28					B2RNN6|B4DKU2|Q5H9J6	Missense_Mutation	SNP	ENST00000372956.2	37	c.123C>A	CCDS14476.2	.	.	.	.	.	.	.	.	.	.	G	0.752	-0.772335	0.02951	.	.	ENSG00000182489	ENST00000328526;ENST00000372956;ENST00000468904	T;T	0.61742	0.08;0.09	5.17	2.81	0.32909	.	0.250759	0.39985	N	0.001210	T	0.26629	0.0651	N	0.08118	0	0.30744	N	0.745825	B	0.02656	0.0	B	0.01281	0.0	T	0.29882	-0.9997	10	0.02654	T	1	-4.707	6.1935	0.20538	0.1135:0.3934:0.4931:0.0	.	28	Q6PP77	XKR2_HUMAN	K	41;28;28	ENSP00000327570:N41K;ENSP00000362047:N28K	ENSP00000327570:N41K	N	-	3	2	XKRX	100069866	1.000000	0.71417	0.994000	0.49952	0.707000	0.40811	0.565000	0.23578	2.158000	0.67659	0.429000	0.28392	AAC		0.443	XKRX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057501.3	NM_212559		4	121	1	0	0.150653	1	0.150899	4	121				
PLCB3	5331	broad.mit.edu	37	11	64027601	64027601	+	Silent	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:64027601C>T	ENST00000540288.1	+	14	1729	c.1626C>T	c.(1624-1626)ggC>ggT	p.G542G	PLCB3_ENST00000279230.6_Silent_p.G542G|PLCB3_ENST00000325234.5_Silent_p.G475G	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN	phospholipase C, beta 3 (phosphatidylinositol-specific)	542					inositol phosphate metabolic process (GO:0043647)|intracellular signal transduction (GO:0035556)|lipid catabolic process (GO:0016042)|regulation of systemic arterial blood pressure (GO:0003073)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)	cytosol (GO:0005829)|membrane (GO:0016020)|nucleus (GO:0005634)|protein complex (GO:0043234)	calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|phosphatidylinositol phospholipase C activity (GO:0004435)|phospholipase C activity (GO:0004629)|signal transducer activity (GO:0004871)			breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						GTGACGAGGGCCTGAACCGAG	0.592																																						ENST00000540288.1																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(2)|large_intestine(5)|lung(14)|ovary(1)|pancreas(1)|prostate(3)|urinary_tract(1)	33						c.(1624-1626)ggC>ggT		phospholipase C, beta 3 (phosphatidylinositol-specific)							73.0	69.0	71.0					11																	64027601		2200	4296	6496	SO:0001819	synonymous_variant	5331				intracellular signal transduction|lipid catabolic process|synaptic transmission	cytosol	calcium ion binding|calmodulin binding|phosphatidylinositol phospholipase C activity|signal transducer activity	g.chr11:64027601C>T	Z26649	CCDS8064.1, CCDS53654.1	11q13	2008-03-18			ENSG00000149782	ENSG00000149782	3.1.4.11		9056	protein-coding gene	gene with protein product		600230				7849701	Standard	NM_000932		Approved		uc009ypg.2	Q01970	OTTHUMG00000167816	ENST00000540288.1:c.1626C>T	11.37:g.64027601C>T						PLCB3_ENST00000325234.5_Silent_p.G475G|PLCB3_ENST00000279230.6_Silent_p.G542G	p.G542G	NM_000932.2	NP_000923.1	Q01970	PLCB3_HUMAN			14	1729	+			542					A5PKZ6|G5E960|Q8N1A4	Silent	SNP	ENST00000540288.1	37	c.1626C>T	CCDS8064.1																																																																																				0.592	PLCB3-002	KNOWN	alternative_3_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396405.1			8	18	0	0	0	1	0	8	18				
DNAH7	56171	broad.mit.edu	37	2	196681514	196681514	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:196681514C>T	ENST00000312428.6	-	51	9699	c.9599G>A	c.(9598-9600)cGc>cAc	p.R3200H		NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN	dynein, axonemal, heavy chain 7	3200					cilium movement (GO:0003341)|cilium or flagellum-dependent cell motility (GO:0001539)|metabolic process (GO:0008152)	axonemal dynein complex (GO:0005858)|cilium (GO:0005929)|microtubule (GO:0005874)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|calcium ion binding (GO:0005509)|microtubule motor activity (GO:0003777)	p.R3200L(1)		NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						ATAGCCCATGCGGGTGGTGTC	0.438																																						ENST00000312428.6																			1	Substitution - Missense(1)	p.R3200L(1)	lung(1)	NS(4)|breast(2)|endometrium(12)|haematopoietic_and_lymphoid_tissue(1)|kidney(15)|large_intestine(28)|liver(3)|lung(100)|ovary(4)|prostate(5)|skin(26)|upper_aerodigestive_tract(2)|urinary_tract(3)	205						c.(9598-9600)cGc>cAc		dynein, axonemal, heavy chain 7							152.0	154.0	153.0					2																	196681514		1886	4115	6001	SO:0001583	missense	56171				ciliary or flagellar motility|microtubule-based movement	axonemal dynein complex|cilium axoneme|cytoplasm|microtubule	ATP binding|microtubule motor activity	g.chr2:196681514C>T	AF327442	CCDS42794.1	2q33.1	2013-01-10	2006-09-04		ENSG00000118997	ENSG00000118997		"""Axonemal dyneins"", ""EF-hand domain containing"""	18661	protein-coding gene	gene with protein product		610061	"""dynein, axonemal, heavy polypeptide 7"""			9373155, 11877439	Standard	NM_018897		Approved	KIAA0944	uc002utj.4	Q8WXX0	OTTHUMG00000154438	ENST00000312428.6:c.9599G>A	2.37:g.196681514C>T	ENSP00000311273:p.Arg3200His						p.R3200H	NM_018897.2	NP_061720.2	Q8WXX0	DYH7_HUMAN			51	9699	-			3200					B8ZZX8|O00433|O95492|Q4G152|Q53QX7|Q53S64|Q53T02|Q68CY5|Q8N1Z2|Q9UMS3|Q9Y2F3	Missense_Mutation	SNP	ENST00000312428.6	37	c.9599G>A	CCDS42794.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.538723	0.85917	.	.	ENSG00000118997	ENST00000312428	T	0.54479	0.57	5.11	5.11	0.69529	.	0.000000	0.85682	D	0.000000	D	0.84238	0.5428	H	0.99042	4.41	0.80722	D	1	D	0.89917	1.0	D	0.76071	0.987	D	0.90758	0.4662	10	0.87932	D	0	.	18.3163	0.90223	0.0:1.0:0.0:0.0	.	3200	Q8WXX0	DYH7_HUMAN	H	3200	ENSP00000311273:R3200H	ENSP00000311273:R3200H	R	-	2	0	DNAH7	196389759	1.000000	0.71417	1.000000	0.80357	0.567000	0.35839	7.651000	0.83577	2.652000	0.90054	0.591000	0.81541	CGC		0.438	DNAH7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335202.3	NM_018897		4	84	0	0	0	1	0	4	84				
TP53	7157	broad.mit.edu	37	17	7578176	7578176	+	Splice_Site	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:7578176C>A	ENST00000269305.4	-	6	862		c.e6+1		TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000445888.2_Splice_Site|TP53_ENST00000574684.1_Intron|TP53_ENST00000420246.2_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site	NM_000546.5|NM_001126112.2|NM_001126118.1|NM_001276760.1|NM_001276761.1	NP_000537.3|NP_001119584.1|NP_001119590.1|NP_001263689.1|NP_001263690.1	P04637	P53_HUMAN	tumor protein p53						apoptotic process (GO:0006915)|B cell lineage commitment (GO:0002326)|base-excision repair (GO:0006284)|blood coagulation (GO:0007596)|cell aging (GO:0007569)|cell cycle arrest (GO:0007050)|cell differentiation (GO:0030154)|cell proliferation (GO:0008283)|cellular protein localization (GO:0034613)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to drug (GO:0035690)|cellular response to glucose starvation (GO:0042149)|cellular response to hypoxia (GO:0071456)|cellular response to ionizing radiation (GO:0071479)|cellular response to UV (GO:0034644)|cerebellum development (GO:0021549)|chromatin assembly (GO:0031497)|determination of adult lifespan (GO:0008340)|DNA damage response, signal transduction by p53 class mediator (GO:0030330)|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest (GO:0006977)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|DNA strand renaturation (GO:0000733)|double-strand break repair (GO:0006302)|embryonic organ development (GO:0048568)|ER overload response (GO:0006983)|gastrulation (GO:0007369)|in utero embryonic development (GO:0001701)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|mitotic cell cycle arrest (GO:0071850)|mitotic G1 DNA damage checkpoint (GO:0031571)|multicellular organism growth (GO:0035264)|multicellular organismal development (GO:0007275)|necroptotic process (GO:0070266)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of DNA replication (GO:0008156)|negative regulation of fibroblast proliferation (GO:0048147)|negative regulation of helicase activity (GO:0051097)|negative regulation of macromitophagy (GO:1901525)|negative regulation of neuroblast proliferation (GO:0007406)|negative regulation of reactive oxygen species metabolic process (GO:2000378)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neuron apoptotic process (GO:0051402)|Notch signaling pathway (GO:0007219)|nucleotide-excision repair (GO:0006289)|oligodendrocyte apoptotic process (GO:0097252)|oxidative stress-induced premature senescence (GO:0090403)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of cell aging (GO:0090343)|positive regulation of cell cycle arrest (GO:0071158)|positive regulation of histone deacetylation (GO:0031065)|positive regulation of intrinsic apoptotic signaling pathway (GO:2001244)|positive regulation of mitochondrial membrane permeability (GO:0035794)|positive regulation of neuron apoptotic process (GO:0043525)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein insertion into mitochondrial membrane involved in apoptotic signaling pathway (GO:1900740)|positive regulation of protein oligomerization (GO:0032461)|positive regulation of reactive oxygen species metabolic process (GO:2000379)|positive regulation of release of cytochrome c from mitochondria (GO:0090200)|positive regulation of thymocyte apoptotic process (GO:0070245)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|protein complex assembly (GO:0006461)|protein import into nucleus, translocation (GO:0000060)|protein localization (GO:0008104)|protein tetramerization (GO:0051262)|Ras protein signal transduction (GO:0007265)|regulation of apoptotic process (GO:0042981)|regulation of mitochondrial membrane permeability (GO:0046902)|regulation of mitochondrial membrane permeability involved in apoptotic process (GO:1902108)|regulation of tissue remodeling (GO:0034103)|regulation of transcription, DNA-templated (GO:0006355)|release of cytochrome c from mitochondria (GO:0001836)|replicative senescence (GO:0090399)|response to antibiotic (GO:0046677)|response to gamma radiation (GO:0010332)|response to ischemia (GO:0002931)|response to salt stress (GO:0009651)|response to X-ray (GO:0010165)|rRNA transcription (GO:0009303)|somitogenesis (GO:0001756)|T cell differentiation in thymus (GO:0033077)|T cell lineage commitment (GO:0002360)|T cell proliferation involved in immune response (GO:0002309)|transforming growth factor beta receptor signaling pathway (GO:0007179)|viral process (GO:0016032)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nuclear chromatin (GO:0000790)|nuclear matrix (GO:0016363)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|PML body (GO:0016605)|protein complex (GO:0043234)|replication fork (GO:0005657)	ATP binding (GO:0005524)|chaperone binding (GO:0051087)|chromatin binding (GO:0003682)|copper ion binding (GO:0005507)|damaged DNA binding (GO:0003684)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone acetyltransferase binding (GO:0035035)|histone deacetylase regulator activity (GO:0035033)|identical protein binding (GO:0042802)|p53 binding (GO:0002039)|protease binding (GO:0002020)|protein heterodimerization activity (GO:0046982)|protein kinase binding (GO:0019901)|protein N-terminus binding (GO:0047485)|protein phosphatase 2A binding (GO:0051721)|protein phosphatase binding (GO:0019903)|receptor tyrosine kinase binding (GO:0030971)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|RNA polymerase II core promoter sequence-specific DNA binding (GO:0000979)|RNA polymerase II transcription factor binding (GO:0001085)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)|transcription regulatory region DNA binding (GO:0044212)|ubiquitin protein ligase binding (GO:0031625)|zinc ion binding (GO:0008270)	p.?(56)|p.0?(8)|p.V225fs*24(1)|p.E224_V225insXX(1)		NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	Acetylsalicylic acid(DB00945)	GCAAACCAGACCTCAGGCGGC	0.527		111	"""Mis, N, F"""		"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""	"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""		Other conserved DNA damage response genes	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)																											Pancreas(47;798 1329 9957 10801)	ENST00000420246.2		111	yes	Rec	yes	Li-Fraumeni syndrome	17	17p13	7157	"""Mis, N, F"""	tumor protein p53			"""L, E, M, O"""		"""breast, sarcoma, adrenocortical carcinoma, glioma, multiple other tumour types"""	"""breast, colorectal, lung, sarcoma, adrenocortical, glioma, multiple other tumour types"""		66	Unknown(56)|Whole gene deletion(8)|Insertion - In frame(1)|Insertion - Frameshift(1)	p.?(56)|p.0?(8)|p.V225fs*24(1)|p.E224_V225insXX(1)	ovary(12)|upper_aerodigestive_tract(10)|lung(8)|biliary_tract(5)|endometrium(5)|large_intestine(4)|oesophagus(4)|bone(4)|stomach(3)|central_nervous_system(3)|haematopoietic_and_lymphoid_tissue(2)|breast(2)|cervix(1)|soft_tissue(1)|skin(1)|pancreas(1)	NS(16)|adrenal_gland(37)|autonomic_ganglia(16)|biliary_tract(273)|bone(108)|breast(2530)|central_nervous_system(1264)|cervix(68)|endometrium(223)|eye(24)|fallopian_tube(1)|gastrointestinal_tract_(site_indeterminate)(1)|genital_tract(16)|haematopoietic_and_lymphoid_tissue(1301)|kidney(96)|large_intestine(5124)|liver(897)|lung(2388)|meninges(5)|oesophagus(1473)|ovary(1659)|pancreas(452)|penis(10)|peritoneum(33)|pituitary(4)|placenta(1)|pleura(3)|prostate(235)|salivary_gland(43)|skin(791)|small_intestine(14)|soft_tissue(220)|stomach(1158)|testis(11)|thymus(21)|thyroid(54)|upper_aerodigestive_tract(2271)|urinary_tract(1259)|vagina(6)|vulva(79)	24185	GRCh37	CS071266	TP53	S		c.e6+1	Other conserved DNA damage response genes	tumor protein p53							80.0	75.0	77.0					17																	7578176		2203	4300	6503	SO:0001630	splice_region_variant	7157	Osteosarcoma, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Breast-Ovarian Cancer, non-BRCA1/2;Hereditary Adrenocortical Cancer;Endometrial Cancer, Familial Clustering of	Familial Cancer Database	Familial Osteogenic Sarcoma;LFS, SBLA syndrome (Sarcoma Breast Leukemia Adrenal cancer), incl.: Cancer with In Vitro Radioresistence, Familial, Li-Fraumeni-like s.;BRCAX;Familial Adrenocortical Carcinoma;	activation of caspase activity by cytochrome c|base-excision repair|blood coagulation|cell cycle arrest|cell differentiation|cell proliferation|cellular protein localization|cellular response to drug|cellular response to glucose starvation|cellular response to hypoxia|cellular response to ionizing radiation|cellular response to UV|determination of adult lifespan|DNA damage response, signal transduction by p53 class mediator resulting in cell cycle arrest|DNA damage response, signal transduction by p53 class mediator resulting in induction of apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|ER overload response|interspecies interaction between organisms|negative regulation of apoptosis|negative regulation of cell growth|negative regulation of cell proliferation|negative regulation of helicase activity|negative regulation of transcription from RNA polymerase II promoter|nucleotide-excision repair|oxidative stress-induced premature senescence|positive regulation of histone deacetylation|positive regulation of neuron apoptosis|positive regulation of peptidyl-tyrosine phosphorylation|positive regulation of reactive oxygen species metabolic process|positive regulation of thymocyte apoptosis|positive regulation of transcription from RNA polymerase II promoter|protein localization|protein tetramerization|Ras protein signal transduction|regulation of mitochondrial membrane permeability|replicative senescence|response to antibiotic|response to gamma radiation|response to X-ray	cytoplasm|cytosol|endoplasmic reticulum|insoluble fraction|mitochondrion|nuclear chromatin|nuclear matrix|nucleolus|nucleus|PML body|protein complex|replication fork	ATP binding|chaperone binding|chromatin binding|copper ion binding|damaged DNA binding|DNA strand annealing activity|histone acetyltransferase binding|p53 binding|protease binding|protein binding|protein heterodimerization activity|protein kinase binding|protein N-terminus binding|protein phosphatase 2A binding|RNA polymerase II transcription factor binding|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|transcription repressor activity|ubiquitin protein ligase binding|zinc ion binding	g.chr17:7578176C>A	AF307851	CCDS11118.1, CCDS45605.1, CCDS45606.1, CCDS73963.1, CCDS73964.1, CCDS73965.1, CCDS73966.1, CCDS73967.1, CCDS73968.1, CCDS73969.1, CCDS73970.1, CCDS73971.1	17p13.1	2014-09-17	2008-01-16		ENSG00000141510	ENSG00000141510			11998	protein-coding gene	gene with protein product	"""Li-Fraumeni syndrome"""	191170				6396087, 3456488, 2047879	Standard	NM_001126115		Approved	p53, LFS1	uc002gij.3	P04637	OTTHUMG00000162125	ENST00000269305.4:c.672+1G>T	17.37:g.7578176C>A		HNSCC(1;<9.43e-08)|TCGA GBM(1;<1E-08)|TSP Lung(2;<1E-08)|TCGA Ovarian(1;<1.89e-07)|Multiple Myeloma(5;0.019)				TP53_ENST00000574684.1_Intron|TP53_ENST00000359597.4_Splice_Site|TP53_ENST00000269305.4_Splice_Site|TP53_ENST00000413465.2_Splice_Site|TP53_ENST00000455263.2_Splice_Site|TP53_ENST00000445888.2_Splice_Site		NM_001126114.2|NM_001276696.1	NP_001119586.1|NP_001263625.1	P04637	P53_HUMAN		GBM - Glioblastoma multiforme(2;1.59e-06)|READ - Rectum adenocarcinoma(115;0.174)	6	805	-		all_cancers(10;1.01e-06)|Myeloproliferative disorder(207;0.0122)|Prostate(122;0.081)						Q15086|Q15087|Q15088|Q16535|Q16807|Q16808|Q16809|Q16810|Q16811|Q16848|Q2XN98|Q3LRW1|Q3LRW2|Q3LRW3|Q3LRW4|Q3LRW5|Q86UG1|Q8J016|Q99659|Q9BTM4|Q9HAQ8|Q9NP68|Q9NPJ2|Q9NZD0|Q9UBI2|Q9UQ61	Splice_Site	SNP	ENST00000269305.4	37		CCDS11118.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.964220	0.74131	.	.	ENSG00000141510	ENST00000413465;ENST00000359597;ENST00000269305;ENST00000455263;ENST00000420246;ENST00000445888;ENST00000396473;ENST00000545858;ENST00000509690;ENST00000514944	.	.	.	5.28	4.29	0.51040	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	13.205	0.59790	0.1605:0.8394:0.0:0.0	.	.	.	.	.	-1	.	.	.	-	.	.	TP53	7518901	1.000000	0.71417	0.998000	0.56505	0.979000	0.70002	7.775000	0.85489	1.321000	0.45227	0.563000	0.77884	.		0.527	TP53-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000367397.1	NM_000546	Intron	25	15	1	0	2.79863e-10	1	3.09058e-10	25	15				
GZF1	64412	broad.mit.edu	37	20	23345441	23345441	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr20:23345441C>T	ENST00000338121.5	+	2	498	c.421C>T	c.(421-423)Caa>Taa	p.Q141*	GZF1_ENST00000542987.1_Intron|GZF1_ENST00000544236.1_Intron|GZF1_ENST00000377051.2_Nonsense_Mutation_p.Q141*			Q9H116	GZF1_HUMAN	GDNF-inducible zinc finger protein 1	141					branching involved in ureteric bud morphogenesis (GO:0001658)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II distal enhancer sequence-specific DNA binding (GO:0000980)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001206)|sequence-specific DNA binding (GO:0043565)			endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)					TTTGGAGTTGCAAAATTTCTC	0.483																																						ENST00000338121.5																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(5)|lung(7)|prostate(1)|urinary_tract(2)	24						c.(421-423)Caa>Taa		GDNF-inducible zinc finger protein 1							67.0	73.0	71.0					20																	23345441		2203	4300	6503	SO:0001587	stop_gained	64412				transcription, DNA-dependent	nucleolus|nucleoplasm	sequence-specific DNA binding|zinc ion binding	g.chr20:23345441C>T	AK025447	CCDS13151.1	20p11.21	2013-01-09	2006-09-19	2006-09-19	ENSG00000125812	ENSG00000125812		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	15808	protein-coding gene	gene with protein product		613842	"""zinc finger protein 336"""	ZNF336		14522971, 16049025	Standard	NM_022482		Approved	dJ322G13.2, ZBTB23	uc002wsz.3	Q9H116	OTTHUMG00000032069	ENST00000338121.5:c.421C>T	20.37:g.23345441C>T	ENSP00000338290:p.Gln141*					GZF1_ENST00000544236.1_Intron|GZF1_ENST00000542987.1_Intron|GZF1_ENST00000377051.2_Nonsense_Mutation_p.Q141*	p.Q141*			Q9H116	GZF1_HUMAN			2	498	+	Lung NSC(19;0.0605)|Colorectal(13;0.0993)|all_lung(19;0.135)		141					A8K199|B2RBC3|B3KPL4|B4DF58|D3DW39|Q54A22|Q96N08|Q9BQK9|Q9H117|Q9H6W6	Nonsense_Mutation	SNP	ENST00000338121.5	37	c.421C>T	CCDS13151.1	.	.	.	.	.	.	.	.	.	.	C	15.02	2.708538	0.48517	.	.	ENSG00000125812	ENST00000338121;ENST00000377051	.	.	.	4.85	4.85	0.62838	.	0.000000	0.56097	D	0.000029	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.54805	T	0.06	.	17.3187	0.87230	0.0:1.0:0.0:0.0	.	.	.	.	X	141	.	ENSP00000338290:Q141X	Q	+	1	0	GZF1	23293441	1.000000	0.71417	1.000000	0.80357	0.294000	0.27393	4.097000	0.57741	2.415000	0.81967	0.650000	0.86243	CAA		0.483	GZF1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000078333.1	NM_022482		5	97	0	0	0	1	0	5	97				
C7orf57	136288	broad.mit.edu	37	7	48081042	48081042	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:48081042C>A	ENST00000348904.3	+	3	379	c.167C>A	c.(166-168)cCt>cAt	p.P56H	C7orf57_ENST00000539619.1_Missense_Mutation_p.P56H|C7orf57_ENST00000430738.1_Missense_Mutation_p.P101H|C7orf57_ENST00000420324.1_Missense_Mutation_p.P101H|C7orf57_ENST00000435376.1_5'UTR	NM_001100159.2	NP_001093629.1	Q8NEG2	CG057_HUMAN	chromosome 7 open reading frame 57	56										breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						GAGAACCTGCCTGGGACTCGG	0.577																																						ENST00000348904.3																			0				breast(1)|endometrium(2)|large_intestine(1)|lung(4)|ovary(1)	9						c.(166-168)cCt>cAt		chromosome 7 open reading frame 57							41.0	45.0	44.0					7																	48081042		1908	4137	6045	SO:0001583	missense	136288							g.chr7:48081042C>A	BC031107	CCDS47583.1, CCDS59054.1, CCDS75594.1	7p12.3	2011-11-25			ENSG00000164746	ENSG00000164746			22247	protein-coding gene	gene with protein product							Standard	NM_001100159		Approved		uc003toh.5	Q8NEG2	OTTHUMG00000155808	ENST00000348904.3:c.167C>A	7.37:g.48081042C>A	ENSP00000335500:p.Pro56His					C7orf57_ENST00000430738.1_Missense_Mutation_p.P101H|C7orf57_ENST00000435376.1_5'UTR|C7orf57_ENST00000539619.1_Missense_Mutation_p.P56H|C7orf57_ENST00000420324.1_Missense_Mutation_p.P101H	p.P56H	NM_001100159.2	NP_001093629.1	Q8NEG2	CG057_HUMAN			3	379	+			56					C9JBJ8	Missense_Mutation	SNP	ENST00000348904.3	37	c.167C>A	CCDS47583.1	.	.	.	.	.	.	.	.	.	.	C	6.229	0.410460	0.11812	.	.	ENSG00000164746	ENST00000420324;ENST00000430738;ENST00000348904;ENST00000539619	T;T;T;T	0.48201	0.82;0.82;0.82;0.82	5.69	-2.68	0.06041	.	0.709953	0.13914	N	0.354032	T	0.47911	0.1471	L	0.56769	1.78	0.09310	N	1	D	0.54964	0.969	P	0.56216	0.794	T	0.46624	-0.9178	10	0.15499	T	0.54	-24.8332	7.2056	0.25905	0.1183:0.4969:0.0:0.3848	.	56	Q8NEG2	CG057_HUMAN	H	101;101;56;56	ENSP00000394648:P101H;ENSP00000410944:P101H;ENSP00000335500:P56H;ENSP00000442474:P56H	ENSP00000335500:P56H	P	+	2	0	C7orf57	48047567	0.000000	0.05858	0.000000	0.03702	0.046000	0.14306	-0.110000	0.10824	-0.789000	0.04498	-0.471000	0.05019	CCT		0.577	C7orf57-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341745.1	NM_001100159		20	25	1	0	8.10497e-08	1	8.74596e-08	20	25				
ZNF425	155054	broad.mit.edu	37	7	148801741	148801741	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:148801741G>A	ENST00000378061.2	-	4	1354	c.1222C>T	c.(1222-1224)Cac>Tac	p.H408Y		NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	zinc finger protein 425	408					negative regulation of transcription, DNA-templated (GO:0045892)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50	Melanoma(164;0.15)		OV - Ovarian serous cystadenocarcinoma(82;0.00463)			TCTCCCGTGTGAACTCTGATG	0.532																																						ENST00000378061.2																			0				breast(6)|endometrium(4)|kidney(3)|large_intestine(11)|lung(20)|ovary(3)|skin(2)|upper_aerodigestive_tract(1)	50						c.(1222-1224)Cac>Tac		zinc finger protein 425							84.0	91.0	89.0					7																	148801741		2203	4300	6503	SO:0001583	missense	155054				negative regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	DNA binding|zinc ion binding	g.chr7:148801741G>A	AK056498	CCDS34773.1	7q36.1	2013-01-08			ENSG00000204947	ENSG00000204947		"""Zinc fingers, C2H2-type"", ""-"""	20690	protein-coding gene	gene with protein product							Standard	NM_001001661		Approved		uc003wfj.3	Q6IV72	OTTHUMG00000158971	ENST00000378061.2:c.1222C>T	7.37:g.148801741G>A	ENSP00000367300:p.His408Tyr						p.H408Y	NM_001001661.2	NP_001001661.1	Q6IV72	ZN425_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.00463)		4	1354	-	Melanoma(164;0.15)		408					B3KPM1|Q08AG3	Missense_Mutation	SNP	ENST00000378061.2	37	c.1222C>T	CCDS34773.1	.	.	.	.	.	.	.	.	.	.	G	19.40	3.819765	0.71028	.	.	ENSG00000204947	ENST00000378061	T	0.67523	-0.27	3.43	3.43	0.39272	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	D	0.84835	0.5560	H	0.94658	3.565	0.34487	D	0.704524	D	0.89917	1.0	D	0.87578	0.998	D	0.90270	0.4307	9	0.87932	D	0	.	10.5368	0.45009	0.0:0.0:1.0:0.0	.	408	Q6IV72	ZN425_HUMAN	Y	408	ENSP00000367300:H408Y	ENSP00000367300:H408Y	H	-	1	0	ZNF425	148432674	0.999000	0.42202	0.016000	0.15963	0.108000	0.19459	6.159000	0.71856	1.923000	0.55706	0.561000	0.74099	CAC		0.532	ZNF425-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000352726.1	XM_088140		48	68	0	0	0	1	0	48	68				
PLXNA2	5362	broad.mit.edu	37	1	208391083	208391083	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:208391083A>G	ENST00000367033.3	-	2	942	c.185T>C	c.(184-186)gTc>gCc	p.V62A		NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN	plexin A2	62	Sema. {ECO:0000255|PROSITE- ProRule:PRU00352}.				axon guidance (GO:0007411)|centrosome localization (GO:0051642)|cerebellar granule cell precursor tangential migration (GO:0021935)|limb bud formation (GO:0060174)|neural tube development (GO:0021915)|pharyngeal system development (GO:0060037)|regulation of cell migration (GO:0030334)|semaphorin-plexin signaling pathway (GO:0071526)|somitogenesis (GO:0001756)	integral component of plasma membrane (GO:0005887)|intracellular (GO:0005622)|plasma membrane (GO:0005886)|semaphorin receptor complex (GO:0002116)	semaphorin receptor activity (GO:0017154)			NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80				OV - Ovarian serous cystadenocarcinoma(81;0.199)		CCCCACATAGACGGCCCCCGT	0.582																																						ENST00000367033.3																			0				NS(1)|breast(3)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(5)|skin(2)|upper_aerodigestive_tract(3)	80						c.(184-186)gTc>gCc		plexin A2							109.0	104.0	106.0					1																	208391083		2203	4300	6503	SO:0001583	missense	5362				axon guidance	integral to membrane|intracellular|plasma membrane		g.chr1:208391083A>G	X87831	CCDS31013.1	1q32.2	2008-07-18			ENSG00000076356	ENSG00000076356		"""Plexins"""	9100	protein-coding gene	gene with protein product	"""plexin 2"", ""plexin-A2"", ""semaphorin receptor OCT"", ""transmembrane protein OCT"""	601054		PLXN2		8570614	Standard	NM_025179		Approved	OCT, FLJ11751, FLJ30634, KIAA0463	uc001hgz.3	O75051	OTTHUMG00000036564	ENST00000367033.3:c.185T>C	1.37:g.208391083A>G	ENSP00000356000:p.Val62Ala						p.V62A	NM_025179.3	NP_079455.3	O75051	PLXA2_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.199)	2	942	-			62			Sema.		A2RTX9|B2RMX7|Q6UX61|Q96GN9|Q9BRL1|Q9UIW1	Missense_Mutation	SNP	ENST00000367033.3	37	c.185T>C	CCDS31013.1	.	.	.	.	.	.	.	.	.	.	A	19.09	3.759395	0.69763	.	.	ENSG00000076356	ENST00000367033	T	0.08634	3.07	5.83	5.83	0.93111	WD40/YVTN repeat-like-containing domain (1);Semaphorin/CD100 antigen (4);	0.081797	0.51477	D	0.000095	T	0.30759	0.0775	M	0.82323	2.585	0.58432	D	0.999997	P;D	0.53619	0.932;0.961	P;P	0.61328	0.887;0.832	T	0.04242	-1.0966	10	0.87932	D	0	.	16.1946	0.82018	1.0:0.0:0.0:0.0	.	116;62	O75051-2;O75051	.;PLXA2_HUMAN	A	62	ENSP00000356000:V62A	ENSP00000356000:V62A	V	-	2	0	PLXNA2	206457706	1.000000	0.71417	0.997000	0.53966	0.462000	0.32619	8.993000	0.93524	2.228000	0.72767	0.528000	0.53228	GTC		0.582	PLXNA2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000088932.6	NM_025179		45	95	0	0	0	1	0	45	95				
CEACAM20	125931	broad.mit.edu	37	19	45024569	45024569	+	RNA	SNP	G	G	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:45024569G>T	ENST00000454753.1	-	0	1247							Q6UY09	CEA20_HUMAN	carcinoembryonic antigen-related cell adhesion molecule 20							integral component of membrane (GO:0016021)				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15		Prostate(69;0.0352)				AGACCTCACAGGCATAGGGCC	0.642																																						ENST00000454753.1																			0				central_nervous_system(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(8)|prostate(1)	15								carcinoembryonic antigen-related cell adhesion molecule 20							52.0	51.0	52.0					19																	45024569		1936	4133	6069			125931					integral to membrane		g.chr19:45024569G>T	AY358129	CCDS74390.1, CCDS74391.1, CCDS74392.1, CCDS74393.1	19q13.31	2013-01-30			ENSG00000176395	ENSG00000273777		"""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Immunoglobulin superfamily / I-set domain containing"""	24879	protein-coding gene	gene with protein product						12975309	Standard	NM_001102600		Approved	UNQ9366	uc010ejo.1	Q6UY09	OTTHUMG00000151532		19.37:g.45024569G>T										Q6UY09	CEA20_HUMAN			0	1247	-		Prostate(69;0.0352)							RNA	SNP	ENST00000454753.1	37																																																																																						0.642	CEACAM20-001	KNOWN	basic	processed_transcript	processed_transcript	OTTHUMT00000323032.1	NM_198444		23	28	1	0	2.52088e-20	1	3.05893e-20	23	28				
ARHGEF10L	55160	broad.mit.edu	37	1	17964479	17964479	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:17964479C>T	ENST00000361221.3	+	19	2183	c.2024C>T	c.(2023-2025)aCg>aTg	p.T675M	ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.T636M|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.T670M|ARHGEF10L_ENST00000375420.3_Missense_Mutation_p.T433M|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.T636M|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.T448M|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.T378M	NM_018125.3	NP_060595	Q9HCE6	ARGAL_HUMAN	Rho guanine nucleotide exchange factor (GEF) 10-like	675						cytoplasm (GO:0005737)	Rho guanyl-nucleotide exchange factor activity (GO:0005089)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)		CTCATCAGCACGCTGCACGGC	0.622																																						ENST00000361221.3																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|liver(2)|lung(16)|ovary(4)|pancreas(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	43						c.(2023-2025)aCg>aTg		Rho guanine nucleotide exchange factor (GEF) 10-like							62.0	43.0	50.0					1																	17964479		2201	4296	6497	SO:0001583	missense	55160				regulation of Rho protein signal transduction	cytoplasm	Rho guanyl-nucleotide exchange factor activity	g.chr1:17964479C>T	AB046846	CCDS182.1, CCDS30617.1	1p36.13	2011-11-16			ENSG00000074964	ENSG00000074964		"""Rho guanine nucleotide exchange factors"""	25540	protein-coding gene	gene with protein product	"""GrinchGEF"""	612494				10997877, 16112081	Standard	XM_005245923		Approved	FLJ10521, KIAA1626	uc001ban.3	Q9HCE6	OTTHUMG00000002514	ENST00000361221.3:c.2024C>T	1.37:g.17964479C>T	ENSP00000355060:p.Thr675Met					ARHGEF10L_ENST00000375415.1_Missense_Mutation_p.T636M|ARHGEF10L_ENST00000469726.1_3'UTR|ARHGEF10L_ENST00000452522.1_Missense_Mutation_p.T636M|ARHGEF10L_ENST00000167825.4_Missense_Mutation_p.T378M|ARHGEF10L_ENST00000434513.1_Missense_Mutation_p.T670M|ARHGEF10L_ENST00000375420.3_Missense_Mutation_p.T433M|ARHGEF10L_ENST00000375408.3_Missense_Mutation_p.T448M	p.T675M	NM_018125.3	NP_060595.3	Q9HCE6	ARGAL_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.00598)|COAD - Colon adenocarcinoma(227;1.62e-05)|BRCA - Breast invasive adenocarcinoma(304;1.68e-05)|Kidney(64;0.000269)|KIRC - Kidney renal clear cell carcinoma(64;0.00361)|STAD - Stomach adenocarcinoma(196;0.00656)|READ - Rectum adenocarcinoma(331;0.0718)|Lung(427;0.204)	19	2183	+		Colorectal(325;3.46e-05)|Breast(348;0.000162)|all_lung(284;0.000337)|Lung NSC(340;0.000419)|Renal(390;0.000518)|Ovarian(437;0.00409)|Myeloproliferative disorder(586;0.0255)	675					B7ZKS1|Q17RW1|Q3YFJ4|Q5VXI5|Q5VXI6|Q66K51|Q6P0L7|Q8NAV5|Q9NVT3	Missense_Mutation	SNP	ENST00000361221.3	37	c.2024C>T	CCDS182.1	.	.	.	.	.	.	.	.	.	.	C	22.7	4.326839	0.81690	.	.	ENSG00000074964	ENST00000361221;ENST00000452522;ENST00000434513;ENST00000375415;ENST00000375420;ENST00000375408;ENST00000457829;ENST00000167825	T;T;T;T;T;T;T	0.63255	0.29;0.33;0.1;0.33;-0.03;0.04;2.33	5.35	5.35	0.76521	.	0.051194	0.85682	D	0.000000	T	0.77968	0.4210	M	0.65498	2.005	0.58432	D	0.999996	D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D	0.97110	0.962;0.932;0.988;1.0;0.972;0.983;1.0;0.999	T	0.80115	-0.1517	10	0.87932	D	0	-13.7076	16.5516	0.84473	0.0:1.0:0.0:0.0	.	448;433;670;378;436;631;636;675	Q5VXI4;B4DTE2;Q9HCE6-5;Q9HCE6-4;B3KX74;Q9HCE6-3;Q9HCE6-2;Q9HCE6	.;.;.;.;.;.;.;ARGAL_HUMAN	M	675;636;670;636;433;448;448;378	ENSP00000355060:T675M;ENSP00000399401:T636M;ENSP00000394621:T670M;ENSP00000364564:T636M;ENSP00000364569:T433M;ENSP00000364557:T448M;ENSP00000167825:T378M	ENSP00000167825:T378M	T	+	2	0	ARHGEF10L	17837066	1.000000	0.71417	0.999000	0.59377	0.866000	0.49608	6.698000	0.74608	2.510000	0.84645	0.563000	0.77884	ACG		0.622	ARHGEF10L-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000007147.1	NM_018125		3	10	0	0	0	1	0	3	10				
MRPL24	79590	broad.mit.edu	37	1	156708372	156708372	+	Missense_Mutation	SNP	C	C	T	rs373072749		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:156708372C>T	ENST00000361531.2	-	2	261	c.125G>A	c.(124-126)cGc>cAc	p.R42H	MRPL24_ENST00000478899.1_5'Flank|MRPL24_ENST00000368211.4_Missense_Mutation_p.R42H			Q96A35	RM24_HUMAN	mitochondrial ribosomal protein L24	42	Poly-Arg.				translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	structural constituent of ribosome (GO:0003735)			endometrium(1)|large_intestine(1)|lung(4)	6	all_hematologic(923;0.088)|Hepatocellular(266;0.158)					AACCACTGGGCGCCGCCTGAT	0.582																																						ENST00000361531.2																			0				endometrium(1)|large_intestine(1)|lung(4)	6						c.(124-126)cGc>cAc		mitochondrial ribosomal protein L24		C	HIS/ARG,HIS/ARG	0,4406		0,0,2203	81.0	85.0	84.0		125,125	5.5	1.0	1		84	1,8599	1.2+/-3.3	0,1,4299	no	missense,missense	MRPL24	NM_024540.3,NM_145729.2	29,29	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	42/217,42/217	156708372	1,13005	2203	4300	6503	SO:0001583	missense	79590				translation	mitochondrion|ribosome	structural constituent of ribosome	g.chr1:156708372C>T	AB051341	CCDS1155.1	1q23.1	2012-11-14			ENSG00000143314	ENSG00000143314		"""Mitochondrial ribosomal proteins / large subunits"""	14037	protein-coding gene	gene with protein product		611836					Standard	NM_145729		Approved	MRP-L18	uc001fpx.1	Q96A35	OTTHUMG00000041296	ENST00000361531.2:c.125G>A	1.37:g.156708372C>T	ENSP00000354525:p.Arg42His					MRPL24_ENST00000368211.4_Missense_Mutation_p.R42H	p.R42H			Q96A35	RM24_HUMAN			2	261	-	all_hematologic(923;0.088)|Hepatocellular(266;0.158)		42			Poly-Arg.		D3DVC8|Q53G65|Q53HT0|Q5SYZ9|Q5SZ00|Q5SZ02|Q96Q70|Q9H7G3	Missense_Mutation	SNP	ENST00000361531.2	37	c.125G>A	CCDS1155.1	.	.	.	.	.	.	.	.	.	.	C	23.5	4.420381	0.83559	0.0	1.16E-4	ENSG00000143314	ENST00000361531;ENST00000368211;ENST00000434558;ENST00000412846;ENST00000420938	.	.	.	5.5	5.5	0.81552	Ribosomal protein L24, SH3-like (1);	0.109197	0.64402	D	0.000016	T	0.52773	0.1755	L	0.58510	1.815	0.58432	D	0.999991	D	0.67145	0.996	P	0.50490	0.642	T	0.57015	-0.7883	9	0.52906	T	0.07	-4.1955	12.9241	0.58249	0.0:0.8369:0.1631:0.0	.	42	Q96A35	RM24_HUMAN	H	42	.	ENSP00000354525:R42H	R	-	2	0	MRPL24	154974996	1.000000	0.71417	1.000000	0.80357	0.801000	0.45260	4.429000	0.59901	2.755000	0.94549	0.655000	0.94253	CGC		0.582	MRPL24-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098955.1	NM_145729		31	74	0	0	0	1	0	31	74				
HIPK2	28996	broad.mit.edu	37	7	139281659	139281659	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:139281659G>A	ENST00000406875.3	-	12	2615	c.2521C>T	c.(2521-2523)Cgc>Tgc	p.R841C	HIPK2_ENST00000428878.2_Missense_Mutation_p.R814C|HIPK2_ENST00000342645.6_Intron	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN	homeodomain interacting protein kinase 2	841	Interaction with CTBP1. {ECO:0000250}.|Interaction with HMGA1. {ECO:0000250}.|Interaction with POU4F1. {ECO:0000250}.|Interaction with SKI and SMAD1.				adult walking behavior (GO:0007628)|anterior/posterior pattern specification (GO:0009952)|cellular response to hypoxia (GO:0071456)|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator (GO:0006978)|embryonic camera-type eye morphogenesis (GO:0048596)|embryonic retina morphogenesis in camera-type eye (GO:0060059)|erythrocyte differentiation (GO:0030218)|eye development (GO:0001654)|intrinsic apoptotic signaling pathway (GO:0097193)|intrinsic apoptotic signaling pathway in response to DNA damage by p53 class mediator (GO:0042771)|iris morphogenesis (GO:0061072)|lens induction in camera-type eye (GO:0060235)|modulation by virus of host morphology or physiology (GO:0019048)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron differentiation (GO:0030182)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|PML body organization (GO:0030578)|positive regulation of angiogenesis (GO:0045766)|positive regulation of cell proliferation (GO:0008284)|positive regulation of DNA binding (GO:0043388)|positive regulation of JNK cascade (GO:0046330)|positive regulation of protein binding (GO:0032092)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|protein phosphorylation (GO:0006468)|regulation of cell cycle (GO:0051726)|retina layer formation (GO:0010842)|SMAD protein signal transduction (GO:0060395)|smoothened signaling pathway (GO:0007224)|transforming growth factor beta receptor signaling pathway (GO:0007179)|voluntary musculoskeletal movement (GO:0050882)	cytoplasm (GO:0005737)|nuclear body (GO:0016604)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)|RNA polymerase II activating transcription factor binding (GO:0001102)|RNA polymerase II transcription coactivator activity (GO:0001105)|SMAD binding (GO:0046332)|transcription corepressor activity (GO:0003714)|virion binding (GO:0046790)			breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43	Melanoma(164;0.205)					ATGGCACAGCGGGGAGGTGTG	0.627																																						ENST00000406875.3																			0				breast(4)|central_nervous_system(4)|endometrium(7)|kidney(2)|large_intestine(5)|lung(11)|ovary(3)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	43						c.(2521-2523)Cgc>Tgc		homeodomain interacting protein kinase 2							50.0	56.0	54.0					7																	139281659		2148	4251	6399	SO:0001583	missense	28996				apoptosis|DNA damage response, signal transduction by p53 class mediator resulting in transcription of p21 class mediator|negative regulation of BMP signaling pathway|positive regulation of JNK cascade|positive regulation of transforming growth factor beta receptor signaling pathway|SMAD protein signal transduction|transcription, DNA-dependent|virus-host interaction	centrosome|nuclear membrane|PML body	ATP binding|protein serine/threonine kinase activity|SMAD binding|transcription corepressor activity|virion binding	g.chr7:139281659G>A	AF208291	CCDS75666.1, CCDS75667.1	7q32-q34	2004-01-29	2001-11-29		ENSG00000064393	ENSG00000064393			14402	protein-coding gene	gene with protein product		606868	"""homeodomain-interacting protein kinase 2"""			11120354	Standard	NM_001113239		Approved		uc003vvf.4	Q9H2X6	OTTHUMG00000157704	ENST00000406875.3:c.2521C>T	7.37:g.139281659G>A	ENSP00000385571:p.Arg841Cys					HIPK2_ENST00000342645.6_Intron|HIPK2_ENST00000428878.2_Missense_Mutation_p.R814C	p.R841C	NM_022740.4	NP_073577.3	Q9H2X6	HIPK2_HUMAN			12	2615	-	Melanoma(164;0.205)		841			Interaction with CTBP1 (By similarity).|Interaction with HMGA1 (By similarity).|Interaction with POU4F1 (By similarity).|Interaction with SKI and SMAD1.		Q75MR7|Q8WWI4|Q9H2Y1	Missense_Mutation	SNP	ENST00000406875.3	37	c.2521C>T		.	.	.	.	.	.	.	.	.	.	G	25.8	4.678034	0.88445	.	.	ENSG00000064393	ENST00000406875;ENST00000428878	T;T	0.53640	0.61;0.62	5.4	4.51	0.55191	.	.	.	.	.	T	0.69115	0.3075	.	.	.	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.83275	0.982;0.996	T	0.72551	-0.4259	8	0.48119	T	0.1	.	15.836	0.78799	0.0:0.0:0.8636:0.1363	.	841;814	Q9H2X6;Q9H2X6-3	HIPK2_HUMAN;.	C	841;814	ENSP00000385571:R841C;ENSP00000413724:R814C	ENSP00000385571:R841C	R	-	1	0	HIPK2	138932199	1.000000	0.71417	0.946000	0.38457	0.975000	0.68041	7.035000	0.76517	1.488000	0.48433	0.585000	0.79938	CGC		0.627	HIPK2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000349430.3	NM_022740		26	35	0	0	0	1	0	26	35				
NRG3	10718	broad.mit.edu	37	10	84745264	84745264	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr10:84745264C>T	ENST00000404547.1	+	10	2066	c.2066C>T	c.(2065-2067)aCa>aTa	p.T689I	NRG3_ENST00000372142.2_Missense_Mutation_p.T468I|NRG3_ENST00000545131.1_Missense_Mutation_p.T315I|NRG3_ENST00000537893.1_Missense_Mutation_p.T315I|NRG3_ENST00000372141.2_Missense_Mutation_p.T665I|NRG3_ENST00000404576.2_Missense_Mutation_p.T469I|NRG3_ENST00000556918.1_Missense_Mutation_p.T495I			P56975	NRG3_HUMAN	neuregulin 3	689					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|intracellular signal transduction (GO:0035556)|mammary placode formation (GO:0060596)|pattern specification process (GO:0007389)|regulation of cell growth (GO:0001558)	extracellular region (GO:0005576)|integral component of plasma membrane (GO:0005887)	growth factor activity (GO:0008083)|receptor tyrosine kinase binding (GO:0030971)|transmembrane receptor protein tyrosine kinase activator activity (GO:0030297)	p.T468K(1)|p.T665K(1)		breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69				GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)		AGCGAAAACACAGCCTTTCTC	0.488																																						ENST00000372142.2																			2	Substitution - Missense(2)	p.T468K(1)|p.T665K(1)	lung(2)	breast(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|lung(41)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	69						c.(1402-1404)aCa>aTa		neuregulin 3							80.0	74.0	76.0					10																	84745264		2203	4300	6503	SO:0001583	missense	10718				regulation of cell growth	extracellular region|integral to plasma membrane	growth factor activity|receptor tyrosine kinase binding|transmembrane receptor protein tyrosine kinase activator activity	g.chr10:84745264C>T	AK098823	CCDS31233.1, CCDS53547.1	10q22-q23	2003-09-09			ENSG00000185737	ENSG00000185737			7999	protein-coding gene	gene with protein product		605533				9275162	Standard	NM_001010848		Approved		uc001kco.2	P56975	OTTHUMG00000018626	ENST00000404547.1:c.2066C>T	10.37:g.84745264C>T	ENSP00000384796:p.Thr689Ile					NRG3_ENST00000404576.2_Missense_Mutation_p.T469I|NRG3_ENST00000556918.1_Missense_Mutation_p.T495I|NRG3_ENST00000404547.1_Missense_Mutation_p.T689I|NRG3_ENST00000372141.2_Missense_Mutation_p.T665I|NRG3_ENST00000537893.1_Missense_Mutation_p.T315I|NRG3_ENST00000545131.1_Missense_Mutation_p.T315I	p.T468I	NM_001165973.1	NP_001159445.1	P56975	NRG3_HUMAN		GBM - Glioblastoma multiforme(1;2.5e-18)|all cancers(1;2.85e-09)	11	1677	+			689					A4D7U1|Q0PEH2|Q5VYH3	Missense_Mutation	SNP	ENST00000404547.1	37	c.1403C>T	CCDS31233.1	.	.	.	.	.	.	.	.	.	.	C	17.28	3.350748	0.61183	.	.	ENSG00000185737	ENST00000372141;ENST00000404547;ENST00000537287;ENST00000372142;ENST00000404576;ENST00000556918;ENST00000545131;ENST00000537893	T;T;T;T;T;T;T	0.60797	0.81;0.68;0.73;0.16;0.73;0.33;0.33	5.54	5.54	0.83059	.	0.000000	0.64402	D	0.000001	T	0.72011	0.3408	L	0.50333	1.59	0.51767	D	0.999939	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.83275	0.996;0.996;0.996;0.996	T	0.73864	-0.3848	10	0.87932	D	0	-18.8055	16.9886	0.86347	0.0:1.0:0.0:0.0	.	664;689;468;665	B9EGV5;P56975;P56975-3;P56975-4	.;NRG3_HUMAN;.;.	I	665;689;664;468;469;495;315;315	ENSP00000361214:T665I;ENSP00000384796:T689I;ENSP00000361215:T468I;ENSP00000385804:T469I;ENSP00000451376:T495I;ENSP00000441201:T315I;ENSP00000440377:T315I	ENSP00000361214:T665I	T	+	2	0	NRG3	84735244	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	5.274000	0.65569	2.615000	0.88500	0.655000	0.94253	ACA		0.488	NRG3-005	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000412262.1	XM_166086		19	51	0	0	0	1	0	19	51				
TRIM68	55128	broad.mit.edu	37	11	4624492	4624492	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:4624492G>A	ENST00000300747.5	-	3	794	c.505C>T	c.(505-507)Cga>Tga	p.R169*		NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN	tripartite motif containing 68	169					protein autoubiquitination (GO:0051865)|regulation of androgen receptor signaling pathway (GO:0060765)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|histone acetyltransferase binding (GO:0035035)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)		GTGGCAGTTCGTTTCCTTTCA	0.522																																						ENST00000300747.5																			0				breast(1)|endometrium(2)|large_intestine(5)|liver(1)|lung(4)|ovary(1)|urinary_tract(1)	15						c.(505-507)Cga>Tga		tripartite motif containing 68							184.0	159.0	167.0					11																	4624492		2201	4298	6499	SO:0001587	stop_gained	55128				protein autoubiquitination|regulation of androgen receptor signaling pathway	Golgi apparatus|nucleolus|perinuclear region of cytoplasm	androgen receptor binding|histone acetyltransferase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr11:4624492G>A	AF360739	CCDS31356.1	11p15.4	2013-01-09	2011-01-25	2004-11-17		ENSG00000167333		"""RING-type (C3HC4) zinc fingers"", ""Tripartite motif containing / Tripartite motif containing"""	21161	protein-coding gene	gene with protein product		613184	"""ring finger protein 137"", ""tripartite motif-containing 68"""	RNF137		11597395	Standard	NM_018073		Approved	SS-56, FLJ10369	uc001lzf.2	Q6AZZ1		ENST00000300747.5:c.505C>T	11.37:g.4624492G>A	ENSP00000300747:p.Arg169*						p.R169*	NM_018073.6	NP_060543.5	Q6AZZ1	TRI68_HUMAN		Epithelial(150;9.49e-12)|BRCA - Breast invasive adenocarcinoma(625;0.0288)|LUSC - Lung squamous cell carcinoma(625;0.192)	3	794	-		Medulloblastoma(188;0.0025)|Breast(177;0.0101)|all_neural(188;0.0227)	169					A6NI19|A8K551|B3KPM5|B4DVK4|Q8WZ70|Q96LE5|Q96PF7|Q9H9C2|Q9NW18	Nonsense_Mutation	SNP	ENST00000300747.5	37	c.505C>T	CCDS31356.1	.	.	.	.	.	.	.	.	.	.	G	31	5.079343	0.94050	.	.	ENSG00000167333	ENST00000300747	.	.	.	4.76	1.54	0.23209	.	0.808617	0.10194	N	0.704299	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.15952	T	0.53	.	4.9031	0.13784	0.1013:0.0:0.5219:0.3768	.	.	.	.	X	169	.	ENSP00000300747:R169X	R	-	1	2	TRIM68	4581068	0.009000	0.17119	0.530000	0.27963	0.775000	0.43874	1.533000	0.36040	0.674000	0.31244	0.561000	0.74099	CGA		0.522	TRIM68-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000385948.1	NM_018073		9	111	0	0	0	1	0	9	111				
OR2J3	442186	broad.mit.edu	37	6	29079969	29079969	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr6:29079969T>C	ENST00000377169.1	+	1	302	c.302T>C	c.(301-303)aTg>aCg	p.M101T		NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN	olfactory receptor, family 2, subfamily J, member 3	101						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						GCTGGTTGCATGATTCAACTT	0.488																																						ENST00000377169.1																			0				endometrium(2)|large_intestine(5)|lung(13)|prostate(1)|skin(1)|upper_aerodigestive_tract(2)	24						c.(301-303)aTg>aCg		olfactory receptor, family 2, subfamily J, member 3							221.0	234.0	230.0					6																	29079969		1304	2601	3905	SO:0001583	missense	442186				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr6:29079969T>C		CCDS43433.1	6p22.2-p21.31	2012-08-09			ENSG00000204701	ENSG00000204701		"""GPCR / Class A : Olfactory receptors"""	8261	protein-coding gene	gene with protein product		615016					Standard	NM_001005216		Approved	OR6-6	uc011dll.2	O76001	OTTHUMG00000031092	ENST00000377169.1:c.302T>C	6.37:g.29079969T>C	ENSP00000366374:p.Met101Thr						p.M101T	NM_001005216.2	NP_001005216.2	O76001	OR2J3_HUMAN			1	302	+			101					B0UY52|B9EH11|Q5SUJ7|Q6IF25|Q96R15|Q9GZK5|Q9GZL4|Q9GZL5	Missense_Mutation	SNP	ENST00000377169.1	37	c.302T>C	CCDS43433.1	.	.	.	.	.	.	.	.	.	.	T	6.154	0.396532	0.11638	.	.	ENSG00000204701	ENST00000377169	T	0.00464	7.24	2.78	2.78	0.32641	GPCR, rhodopsin-like superfamily (1);	.	.	.	.	T	0.00144	0.0004	L	0.46741	1.465	0.23816	N	0.996761	B	0.06786	0.001	B	0.04013	0.001	T	0.47649	-0.9101	9	0.49607	T	0.09	.	3.9805	0.09493	0.0:0.3576:0.0:0.6424	.	101	O76001	OR2J3_HUMAN	T	101	ENSP00000366374:M101T	ENSP00000366374:M101T	M	+	2	0	OR2J3	29187948	0.000000	0.05858	0.968000	0.41197	0.635000	0.38103	0.749000	0.26320	1.268000	0.44264	0.358000	0.22013	ATG		0.488	OR2J3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076132.2			59	129	0	0	0	1	0	59	129				
CBLC	23624	broad.mit.edu	37	19	45281403	45281403	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:45281403G>T	ENST00000270279.3	+	1	278	c.215G>T	c.(214-216)gGt>gTt	p.G72V	CBLC_ENST00000341505.4_Missense_Mutation_p.G72V	NM_012116.3	NP_036248.3	Q9ULV8	CBLC_HUMAN	Cbl proto-oncogene C, E3 ubiquitin protein ligase	72	4H.|Cbl-PTB. {ECO:0000255|PROSITE- ProRule:PRU00839}.				cell surface receptor signaling pathway (GO:0007166)|negative regulation of epidermal growth factor receptor signaling pathway (GO:0042059)|negative regulation of epidermal growth factor-activated receptor activity (GO:0007175)|negative regulation of MAP kinase activity (GO:0043407)|protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:0042787)	extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|epidermal growth factor receptor binding (GO:0005154)|ligase activity (GO:0016874)|phosphotyrosine binding (GO:0001784)|SH3 domain binding (GO:0017124)|signal transducer activity (GO:0004871)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)				ggccccgggggtcccggcggc	0.721			M		AML																																	ENST00000270279.3				Rec	yes		19	19q13.2	23624	M	Cas-Br-M (murine) ecotropic retroviral transforming sequence c			L			AML		0				breast(1)|kidney(1)|lung(6)|ovary(5)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	17						c.(214-216)gGt>gTt		Cbl proto-oncogene C, E3 ubiquitin protein ligase							4.0	6.0	6.0					19																	45281403		1853	3786	5639	SO:0001583	missense	23624				cell surface receptor linked signaling pathway|negative regulation of epidermal growth factor receptor activity|negative regulation of MAP kinase activity|protein ubiquitination involved in ubiquitin-dependent protein catabolic process	nucleus	calcium ion binding|epidermal growth factor receptor binding|phosphotyrosine binding|SH3 domain binding|signal transducer activity|ubiquitin-protein ligase activity|zinc ion binding	g.chr19:45281403G>T	AB028645	CCDS12643.1, CCDS46109.1	19q13.2	2013-07-09	2013-07-09		ENSG00000142273	ENSG00000142273		"""RING-type (C3HC4) zinc fingers"""	15961	protein-coding gene	gene with protein product		608453	"""Cas-Br-M (murine) ectropic retroviral transforming sequence c"", ""Cas-Br-M (murine) ecotropic retroviral transforming sequence c"""			10362357, 10571044	Standard	NM_012116		Approved	CBL-3, CBL-SL, RNF57	uc002ozs.3	Q9ULV8	OTTHUMG00000150715	ENST00000270279.3:c.215G>T	19.37:g.45281403G>T	ENSP00000270279:p.Gly72Val					CBLC_ENST00000341505.4_Missense_Mutation_p.G72V	p.G72V	NM_012116.3	NP_036248.3	Q9ULV8	CBLC_HUMAN			1	278	+	Lung NSC(12;0.00136)|all_lung(12;0.00371)	Ovarian(192;0.231)	72			4H.|Cbl-PTB.		Q8N1E5|Q9Y5Z2|Q9Y5Z3	Missense_Mutation	SNP	ENST00000270279.3	37	c.215G>T	CCDS12643.1	.	.	.	.	.	.	.	.	.	.	.	9.062	0.994628	0.19043	.	.	ENSG00000142273	ENST00000270279;ENST00000341505	T;T	0.76186	-1.0;-1.0	2.79	-3.74	0.04385	Adaptor protein Cbl, N-terminal helical (3);Adaptor protein Cbl, PTB domain (1);	0.521500	0.17307	N	0.179032	T	0.62417	0.2426	M	0.65975	2.015	0.25544	N	0.987159	B;B	0.09022	0.001;0.002	B;B	0.12156	0.003;0.007	T	0.50684	-0.8799	10	0.39692	T	0.17	-0.4555	3.5276	0.07765	0.4633:0.0:0.356:0.1807	.	72;72	Q9ULV8-2;Q9ULV8	.;CBLC_HUMAN	V	72	ENSP00000270279:G72V;ENSP00000340250:G72V	ENSP00000270279:G72V	G	+	2	0	CBLC	49973243	0.031000	0.19500	0.001000	0.08648	0.002000	0.02628	0.015000	0.13355	-0.682000	0.05197	-1.023000	0.02433	GGT		0.721	CBLC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319732.2	NM_012116		5	13	1	0	1.23904e-05	1	1.29824e-05	5	13				
ERCC6	2074	broad.mit.edu	37	10	50691445	50691445	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr10:50691445C>T	ENST00000355832.5	-	9	2017	c.1939G>A	c.(1939-1941)Gaa>Aaa	p.E647K	ERCC6_ENST00000542458.1_Missense_Mutation_p.E17K	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN	excision repair cross-complementation group 6	647	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				activation of JNKK activity (GO:0007256)|activation of JUN kinase activity (GO:0007257)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway in response to DNA damage (GO:0008630)|multicellular organism growth (GO:0035264)|nucleotide-excision repair (GO:0006289)|photoreceptor cell maintenance (GO:0045494)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of protein tyrosine kinase activity (GO:0061098)|pyrimidine dimer repair (GO:0006290)|regulation of DNA-templated transcription, elongation (GO:0032784)|response to gamma radiation (GO:0010332)|response to oxidative stress (GO:0006979)|response to superoxide (GO:0000303)|response to toxic substance (GO:0009636)|response to UV (GO:0009411)|response to UV-B (GO:0010224)|response to X-ray (GO:0010165)|transcription elongation from RNA polymerase I promoter (GO:0006362)|transcription from RNA polymerase II promoter (GO:0006366)|transcription-coupled nucleotide-excision repair (GO:0006283)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription elongation factor complex (GO:0008023)	ATP binding (GO:0005524)|chromatin binding (GO:0003682)|DNA binding (GO:0003677)|DNA-dependent ATPase activity (GO:0008094)|helicase activity (GO:0004386)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|protein N-terminus binding (GO:0047485)|protein tyrosine kinase activator activity (GO:0030296)			breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						TTGTGTCCTTCGTCCAAGATC	0.408								Direct reversal of damage;Nucleotide excision repair (NER)																														ENST00000355832.5																			0				breast(5)|central_nervous_system(1)|endometrium(6)|kidney(5)|large_intestine(15)|lung(19)|ovary(3)|pancreas(1)|prostate(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(1)	64						c.(1939-1941)Gaa>Aaa	Direct reversal of damage;Nucleotide excision repair (NER)	excision repair cross-complementing rodent repair deficiency, complementation group 6							178.0	151.0	160.0					10																	50691445		2203	4300	6503	SO:0001583	missense	2074				base-excision repair|positive regulation of transcription elongation, DNA-dependent|transcription from RNA polymerase II promoter|transcription-coupled nucleotide-excision repair	nucleolus|soluble fraction|transcription elongation factor complex	ATP binding|chromatin binding|DNA binding|DNA-dependent ATPase activity|helicase activity|protein C-terminus binding|protein complex binding|protein N-terminus binding	g.chr10:50691445C>T	L04791	CCDS7229.1	10q11	2014-09-17	2014-03-07		ENSG00000225830	ENSG00000225830			3438	protein-coding gene	gene with protein product	"""Cockayne syndrome B protein"""	609413	"""excision repair cross-complementing rodent repair deficiency, complementation group 6"""	CKN2		1339317, 19179336	Standard	NM_000124		Approved	CSB, RAD26, ARMD5	uc001jhs.5	Q03468	OTTHUMG00000018195	ENST00000355832.5:c.1939G>A	10.37:g.50691445C>T	ENSP00000348089:p.Glu647Lys					ERCC6_ENST00000542458.1_Missense_Mutation_p.E17K	p.E647K	NM_000124.2	NP_000115.1	Q03468	ERCC6_HUMAN			9	2017	-			647			Helicase ATP-binding.		D3DX94|Q5W0L9	Missense_Mutation	SNP	ENST00000355832.5	37	c.1939G>A	CCDS7229.1	.	.	.	.	.	.	.	.	.	.	C	36	5.900142	0.97081	.	.	ENSG00000225830	ENST00000355832;ENST00000374129;ENST00000542458	D;D	0.99674	-6.36;-6.36	5.5	5.5	0.81552	DEAD-like helicase (2);SNF2-related (1);	.	.	.	.	D	0.99896	0.9950	H	0.99806	4.795	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.96064	0.9041	9	0.87932	D	0	-30.1623	19.7532	0.96277	0.0:1.0:0.0:0.0	.	647;56	Q03468;Q59FF6	ERCC6_HUMAN;.	K	647;56;17	ENSP00000348089:E647K;ENSP00000445134:E17K	ENSP00000348089:E647K	E	-	1	0	ERCC6	50361451	1.000000	0.71417	0.987000	0.45799	0.988000	0.76386	7.442000	0.80503	2.734000	0.93682	0.650000	0.86243	GAA		0.408	ERCC6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047990.1	NM_000124		24	57	0	0	0	1	0	24	57				
GOLGA2P5	55592	broad.mit.edu	37	12	100567163	100567163	+	RNA	SNP	G	G	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr12:100567163G>C	ENST00000397112.4	-	0	274				RP11-175P13.3_ENST00000548404.2_RNA	NR_036632.1		Q9HBQ8	GGA2B_HUMAN								Golgi apparatus (GO:0005794)				large_intestine(1)|lung(3)	4						AGCGTGTCCAGAGGGACCTGT	0.512																																						ENST00000548404.2																			0																																																			55592							g.chr12:100567163G>C																													12.37:g.100567163G>C						GOLGA2B_ENST00000397112.4_RNA								0	738	-								Q9NSV2	RNA	SNP	ENST00000397112.4	37																																																																																						0.512	GOLGA2B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000396439.2			9	11	0	0	0	1	0	9	11				
TRAP1	10131	broad.mit.edu	37	16	3739110	3739110	+	Silent	SNP	G	G	A	rs370347742		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr16:3739110G>A	ENST00000246957.5	-	3	364	c.276C>T	c.(274-276)gcC>gcT	p.A92A	TRAP1_ENST00000538171.1_Silent_p.A39A	NM_016292.2	NP_057376.2	Q12931	TRAP1_HUMAN	TNF receptor-associated protein 1	92					chaperone-mediated protein folding (GO:0061077)|negative regulation of cellular respiration (GO:1901856)|negative regulation of oxidative stress-induced intrinsic apoptotic signaling pathway (GO:1902176)|regulation of reactive oxygen species metabolic process (GO:2000377)|response to stress (GO:0006950)	extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)|tumor necrosis factor receptor binding (GO:0005164)			central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19		Ovarian(90;0.0261)				TCTTTGTCTCGGCCTGGAACT	0.438																																						ENST00000246957.5																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|large_intestine(3)|lung(7)|skin(1)|upper_aerodigestive_tract(1)	19						c.(274-276)gcC>gcT		TNF receptor-associated protein 1		G		0,4394		0,0,2197	111.0	97.0	102.0		276	-8.6	0.5	16		102	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	TRAP1	NM_016292.2		0,1,6496	AA,AG,GG		0.0116,0.0,0.0077		92/705	3739110	1,12993	2197	4300	6497	SO:0001819	synonymous_variant	10131				cellular response to oxidative stress|protein folding	mitochondrion	ATP binding|tumor necrosis factor receptor binding|unfolded protein binding	g.chr16:3739110G>A	AF154108	CCDS10508.1, CCDS61824.1	16p13.3	2011-09-02			ENSG00000126602	ENSG00000126602		"""Heat shock proteins / HSPC"""	16264	protein-coding gene	gene with protein product		606219				10652318, 7876093	Standard	NM_016292		Approved	HSP75, HSP90L	uc002cvt.4	Q12931	OTTHUMG00000129427	ENST00000246957.5:c.276C>T	16.37:g.3739110G>A						TRAP1_ENST00000538171.1_Silent_p.A39A	p.A92A	NM_016292.2	NP_057376.2	Q12931	TRAP1_HUMAN			3	364	-		Ovarian(90;0.0261)	92					B4DR68|D3DUC8|F5H897|O43642|O75235|Q9UHL5	Silent	SNP	ENST00000246957.5	37	c.276C>T	CCDS10508.1																																																																																				0.438	TRAP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251586.2	NM_016292		22	40	0	0	0	1	0	22	40				
NQO1	1728	broad.mit.edu	37	16	69745127	69745127	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr16:69745127T>C	ENST00000320623.5	-	6	1088	c.577A>G	c.(577-579)Att>Gtt	p.I193V	NQO1_ENST00000561500.1_Missense_Mutation_p.I155V|NQO1_ENST00000379047.3_Missense_Mutation_p.I159V|snoU13_ENST00000459361.1_RNA|NQO1_ENST00000439109.2_Missense_Mutation_p.I121V|NQO1_ENST00000564043.1_Missense_Mutation_p.I172V|CTD-2033A16.1_ENST00000562696.1_RNA|NQO1_ENST00000379046.2_Missense_Mutation_p.I155V	NM_000903.2	NP_000894.1	P15559	NQO1_HUMAN	NAD(P)H dehydrogenase, quinone 1	193					aging (GO:0007568)|cellular nitrogen compound metabolic process (GO:0034641)|negative regulation of catalytic activity (GO:0043086)|nitric oxide biosynthetic process (GO:0006809)|positive regulation of neuron apoptotic process (GO:0043525)|regulation of cellular amino acid metabolic process (GO:0006521)|response to estradiol (GO:0032355)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|response to toxic substance (GO:0009636)|small molecule metabolic process (GO:0044281)|synaptic transmission, cholinergic (GO:0007271)|xenobiotic metabolic process (GO:0006805)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|neuronal cell body (GO:0043025)	cytochrome-b5 reductase activity, acting on NAD(P)H (GO:0004128)|NAD(P)H dehydrogenase (quinone) activity (GO:0003955)|poly(A) RNA binding (GO:0044822)|superoxide dismutase activity (GO:0004784)			autonomic_ganglia(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	10					Carboplatin(DB00958)|Cisplatin(DB00515)|Dicoumarol(DB00266)|Doxorubicin(DB00997)|Flavin adenine dinucleotide(DB03147)|Menadione(DB00170)|Oxaliplatin(DB00526)|Vitamin E(DB00163)	GTGTGCCCAATGCTATATGTC	0.463																																						ENST00000320623.5																			0				autonomic_ganglia(1)|large_intestine(2)|lung(5)|prostate(1)|stomach(1)	10						c.(577-579)Att>Gtt		NAD(P)H dehydrogenase, quinone 1	Dicumarol(DB00266)|Menadione(DB00170)						162.0	170.0	168.0					16																	69745127		2198	4300	6498	SO:0001583	missense	1728				nitric oxide biosynthetic process|regulation of cellular amino acid metabolic process|response to toxin|synaptic transmission, cholinergic|xenobiotic metabolic process	cytosol	coenzyme binding|cytochrome-b5 reductase activity|electron carrier activity|NAD(P)H dehydrogenase (quinone) activity	g.chr16:69745127T>C	M81600	CCDS10883.1, CCDS32471.1, CCDS32472.1, CCDS67067.1	16q12-q22	2012-10-02	2001-11-30	2001-12-07	ENSG00000181019	ENSG00000181019	1.6.5.2		2874	protein-coding gene	gene with protein product		125860	"""diaphorase (NADH/NADPH) (cytochrome b-5 reductase)"""	NMOR1, DIA4		2843525	Standard	NM_001286137		Approved	DHQU, QR1, DTD	uc002exp.3	P15559	OTTHUMG00000137575	ENST00000320623.5:c.577A>G	16.37:g.69745127T>C	ENSP00000319788:p.Ile193Val					NQO1_ENST00000564043.1_Missense_Mutation_p.I172V|NQO1_ENST00000561500.1_Missense_Mutation_p.I155V|NQO1_ENST00000439109.2_Missense_Mutation_p.I121V|NQO1_ENST00000379046.2_Missense_Mutation_p.I155V|NQO1_ENST00000379047.3_Missense_Mutation_p.I159V	p.I193V	NM_000903.2	NP_000894.1	P15559	NQO1_HUMAN			6	1088	-			193					B2R5Y9|B4DNM7|B7ZAD1|Q86UK1	Missense_Mutation	SNP	ENST00000320623.5	37	c.577A>G	CCDS10883.1	.	.	.	.	.	.	.	.	.	.	T	3.928	-0.016766	0.07681	.	.	ENSG00000181019	ENST00000320623;ENST00000379047;ENST00000379046;ENST00000439109	T;T;T;T	0.08193	3.12;3.32;3.32;3.32	5.41	4.32	0.51571	Flavodoxin-like fold (1);	0.157883	0.56097	N	0.000026	T	0.04137	0.0115	N	0.12611	0.24	0.44295	D	0.997161	B;B;B;B	0.11235	0.0;0.004;0.001;0.0	B;B;B;B	0.16289	0.001;0.015;0.002;0.006	T	0.23726	-1.0180	10	0.02654	T	1	-11.2307	10.5841	0.45273	0.0:0.0774:0.0:0.9226	.	121;155;159;193	B4DLR8;B4DNM7;B7ZAD1;P15559	.;.;.;NQO1_HUMAN	V	193;159;155;121	ENSP00000319788:I193V;ENSP00000368335:I159V;ENSP00000368334:I155V;ENSP00000398330:I121V	ENSP00000319788:I193V	I	-	1	0	NQO1	68302628	1.000000	0.71417	0.993000	0.49108	0.983000	0.72400	3.207000	0.51106	1.001000	0.39076	0.533000	0.62120	ATT		0.463	NQO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268956.2			65	169	0	0	0	1	0	65	169				
TUBB8P7	197331	broad.mit.edu	37	16	90161571	90161571	+	RNA	SNP	A	A	G	rs376229952		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr16:90161571A>G	ENST00000564451.1	+	0	924				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7																		CAACTGGGCCAAGGGACGCTA	0.577																																						ENST00000567960.1																			0																																																			197331							g.chr16:90161571A>G			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161571A>G						TUBB8P7_ENST00000564451.1_RNA								0	307	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.577	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		3	55	0	0	0	1	0	3	55				
ANKS1B	56899	broad.mit.edu	37	12	99478762	99478762	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr12:99478762C>T	ENST00000547776.2	-	16	2565	c.2566G>A	c.(2566-2568)Gga>Aga	p.G856R	ANKS1B_ENST00000549493.2_Missense_Mutation_p.G82R|ANKS1B_ENST00000546568.1_Missense_Mutation_p.G82R|ANKS1B_ENST00000329257.7_Missense_Mutation_p.G856R|ANKS1B_ENST00000547446.1_Missense_Mutation_p.G51R|ANKS1B_ENST00000547010.1_Missense_Mutation_p.G432R|ANKS1B_ENST00000549558.2_Missense_Mutation_p.G82R|RNA5SP366_ENST00000365454.1_RNA|ANKS1B_ENST00000546960.1_Missense_Mutation_p.G82R|ANKS1B_ENST00000550693.2_Missense_Mutation_p.G82R|ANKS1B_ENST00000332712.7_Missense_Mutation_p.G82R|ANKS1B_ENST00000549025.2_Missense_Mutation_p.G25R	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN	ankyrin repeat and sterile alpha motif domain containing 1B	856	SAM 1. {ECO:0000255|PROSITE- ProRule:PRU00184}.					cell junction (GO:0030054)|cell projection (GO:0042995)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ephrin receptor binding (GO:0046875)			NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)		TTAAGGATTCCAATTTCCAAC	0.378																																						ENST00000547776.2																			0				NS(1)|breast(1)|cervix(1)|endometrium(4)|kidney(6)|large_intestine(15)|lung(38)|pancreas(1)|prostate(2)|skin(1)	70						c.(2566-2568)Gga>Aga		ankyrin repeat and sterile alpha motif domain containing 1B							90.0	86.0	87.0					12																	99478762		1853	4084	5937	SO:0001583	missense	56899					Cajal body|cell junction|cytoplasm|dendritic spine|postsynaptic density|postsynaptic membrane		g.chr12:99478762C>T	AF145204	CCDS55864.1, CCDS55865.1, CCDS55866.1, CCDS55867.1, CCDS55868.1, CCDS55869.1, CCDS55870.1, CCDS55871.1, CCDS55872.1	12q23.1	2013-01-10						"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	24600	protein-coding gene	gene with protein product		607815				10490826, 12415113	Standard	NM_020140		Approved	EB-1, AIDA-1, cajalin-2, ANKS2	uc001tge.2	Q7Z6G8		ENST00000547776.2:c.2566G>A	12.37:g.99478762C>T	ENSP00000449629:p.Gly856Arg					ANKS1B_ENST00000549025.2_Missense_Mutation_p.G25R|ANKS1B_ENST00000546960.1_Missense_Mutation_p.G82R|ANKS1B_ENST00000546568.1_Missense_Mutation_p.G82R|ANKS1B_ENST00000329257.7_Missense_Mutation_p.G856R|ANKS1B_ENST00000547010.1_Missense_Mutation_p.G432R|ANKS1B_ENST00000549493.2_Missense_Mutation_p.G82R|ANKS1B_ENST00000547446.1_Missense_Mutation_p.G51R|ANKS1B_ENST00000550693.2_Missense_Mutation_p.G82R|ANKS1B_ENST00000332712.7_Missense_Mutation_p.G82R|ANKS1B_ENST00000549558.2_Missense_Mutation_p.G82R	p.G856R	NM_152788.4	NP_690001.3	Q7Z6G8	ANS1B_HUMAN		OV - Ovarian serous cystadenocarcinoma(2;2.89e-08)|Epithelial(2;6.12e-08)|all cancers(2;4.07e-06)	16	2565	-		all_cancers(3;0.0197)|all_epithelial(3;0.0101)|Esophageal squamous(3;0.0559)|Breast(359;0.209)	856			SAM 1.		A5PKY5|A7E259|A8K153|A8MSN4|B4DFP6|B4DH98|F8VPM3|F8VZR9|F8WC27|Q5XLJ0|Q6IVB5|Q6NUS4|Q7Z6G6|Q7Z6G7|Q8TAP3|Q9NRX7|Q9Y5K9	Missense_Mutation	SNP	ENST00000547776.2	37	c.2566G>A	CCDS55872.1	.	.	.	.	.	.	.	.	.	.	C	25.1	4.605394	0.87157	.	.	ENSG00000185046	ENST00000549558;ENST00000547776;ENST00000547010;ENST00000329257;ENST00000538702;ENST00000550693;ENST00000549025;ENST00000549493;ENST00000547446;ENST00000546568;ENST00000332712;ENST00000407362;ENST00000546960;ENST00000552245	T;T;T;T;T;D;T;T;T;T;T	0.92199	-0.02;-0.02;-0.02;-0.02;-0.02;-2.99;-0.02;-0.02;-0.02;-0.02;-0.02	5.29	5.29	0.74685	Sterile alpha motif domain (2);Sterile alpha motif/pointed domain (2);Sterile alpha motif, type 1 (1);	0.000000	0.85682	D	0.000000	D	0.97371	0.9140	H	0.96398	3.815	0.52099	D	0.999942	D;D;D;D;D;D;D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0;1.0	D;D;D;D;D;D;D;D;D;D;D	0.97110	0.999;0.999;1.0;0.999;0.998;0.996;1.0;1.0;0.998;1.0;0.999	D	0.98501	1.0614	10	0.87932	D	0	-11.6779	15.8446	0.78876	0.0:1.0:0.0:0.0	.	51;82;82;82;70;82;82;25;432;856;82	F8VPM3;Q7Z6G8-4;Q7Z6G8-5;F8VZ47;F8VQW6;Q7Z6G8-2;Q7Z6G8-3;F8VZR9;Q7Z6G8-6;Q7Z6G8;Q7Z6G8-7	.;.;.;.;.;.;.;.;.;ANS1B_HUMAN;.	R	82;856;432;856;431;82;25;82;51;82;82;18;82;82	ENSP00000448993:G82R;ENSP00000449629:G856R;ENSP00000448512:G432R;ENSP00000331381:G856R;ENSP00000447999:G82R;ENSP00000447312:G25R;ENSP00000448203:G82R;ENSP00000450015:G51R;ENSP00000448205:G82R;ENSP00000332683:G82R;ENSP00000447839:G82R	ENSP00000331381:G856R	G	-	1	0	ANKS1B	98002893	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	6.318000	0.72866	2.491000	0.84063	0.561000	0.74099	GGA		0.378	ANKS1B-003	KNOWN	basic|appris_candidate_longest|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000408421.3	NM_020140		10	6	0	0	0	1	0	10	6				
TOX	9760	broad.mit.edu	37	8	59727981	59727981	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr8:59727981G>C	ENST00000361421.1	-	7	1528	c.1308C>G	c.(1306-1308)caC>caG	p.H436Q	RNU4-50P_ENST00000364361.1_RNA	NM_014729.2	NP_055544.1	O94900	TOX_HUMAN	thymocyte selection-associated high mobility group box	436						nucleus (GO:0005634)	DNA binding (GO:0003677)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)				TGAGCGGCTGGTGCTGCTGCA	0.577																																					Pancreas(161;610 1969 17913 21374 22725)	ENST00000361421.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(11)|lung(13)|prostate(1)|skin(2)|stomach(1)	33						c.(1306-1308)caC>caG		thymocyte selection-associated high mobility group box							66.0	70.0	69.0					8																	59727981		2203	4300	6503	SO:0001583	missense	9760					nucleus	DNA binding	g.chr8:59727981G>C		CCDS34897.1	8q12.2-q12.3	2009-04-17			ENSG00000198846	ENSG00000198846			18988	protein-coding gene	gene with protein product		606863				9872452, 11850626	Standard	NM_014729		Approved	KIAA0808, TOX1	uc003xtw.1	O94900	OTTHUMG00000164331	ENST00000361421.1:c.1308C>G	8.37:g.59727981G>C	ENSP00000354842:p.His436Gln						p.H436Q	NM_014729.2	NP_055544.1	O94900	TOX_HUMAN			7	1528	-		all_cancers(86;0.165)|Myeloproliferative disorder(644;0.00452)|all_lung(136;0.036)|Lung NSC(129;0.0464)|all_epithelial(80;0.0607)	436					Q96AV5	Missense_Mutation	SNP	ENST00000361421.1	37	c.1308C>G	CCDS34897.1	.	.	.	.	.	.	.	.	.	.	G	12.30	1.896872	0.33535	.	.	ENSG00000198846	ENST00000361421;ENST00000456290	T	0.12039	2.72	5.91	4.1	0.47936	.	0.215367	0.47093	N	0.000257	T	0.08935	0.0221	N	0.19112	0.55	0.46203	D	0.998928	B	0.22604	0.072	B	0.23018	0.043	T	0.22312	-1.0220	9	.	.	.	.	11.222	0.48860	0.0697:0.1283:0.802:0.0	.	436	O94900	TOX_HUMAN	Q	436;186	ENSP00000354842:H436Q	.	H	-	3	2	TOX	59890535	1.000000	0.71417	1.000000	0.80357	0.884000	0.51177	3.016000	0.49607	0.812000	0.34326	0.591000	0.81541	CAC		0.577	TOX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000378307.1	NM_014729		25	43	0	0	0	1	0	25	43				
GNAT3	346562	broad.mit.edu	37	7	80091852	80091852	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:80091852G>A	ENST00000398291.3	-	6	779	c.686C>T	c.(685-687)gCc>gTc	p.A229V	CD36_ENST00000435819.1_Intron	NM_001102386.1	NP_001095856.1	A8MTJ3	GNAT3_HUMAN	guanine nucleotide binding protein, alpha transducing 3	229					adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|blood coagulation (GO:0007596)|detection of chemical stimulus involved in sensory perception of bitter taste (GO:0001580)|detection of visible light (GO:0009584)|platelet activation (GO:0030168)|response to nicotine (GO:0035094)|sensory perception of sweet taste (GO:0050916)|sensory perception of umami taste (GO:0050917)|synaptic transmission (GO:0007268)	acrosomal vesicle (GO:0001669)|apical plasma membrane (GO:0016324)|axoneme (GO:0005930)|heterotrimeric G-protein complex (GO:0005834)|photoreceptor inner segment (GO:0001917)|photoreceptor outer segment (GO:0001750)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	G-protein beta/gamma-subunit complex binding (GO:0031683)|G-protein coupled photoreceptor activity (GO:0008020)|G-protein coupled receptor binding (GO:0001664)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	9						CATGTCATAGGCACTAAGTGC	0.398																																						ENST00000398291.3																			0				endometrium(1)|large_intestine(2)|lung(5)|ovary(1)	9						c.(685-687)gCc>gTc		guanine nucleotide binding protein, alpha transducing 3							144.0	136.0	138.0					7																	80091852		1990	4207	6197	SO:0001583	missense	346562				detection of chemical stimulus involved in sensory perception of bitter taste|G-protein signaling, coupled to cAMP nucleotide second messenger|rhodopsin mediated phototransduction|sensory perception of sweet taste|sensory perception of umami taste	cytoplasm|heterotrimeric G-protein complex|photoreceptor inner segment|photoreceptor outer segment	G-protein beta/gamma-subunit complex binding|G-protein-coupled receptor binding|GTP binding|GTPase activity|signal transducer activity	g.chr7:80091852G>A		CCDS47625.1	7q21.11	2007-06-13			ENSG00000214415	ENSG00000214415			22800	protein-coding gene	gene with protein product		139395					Standard	NM_001102386		Approved	gustducin, GDCA	uc011kgu.2	A8MTJ3	OTTHUMG00000155401	ENST00000398291.3:c.686C>T	7.37:g.80091852G>A	ENSP00000381339:p.Ala229Val					CD36_ENST00000435819.1_Intron	p.A229V	NM_001102386.1	NP_001095856.1	A8MTJ3	GNAT3_HUMAN			6	779	-			229					A4D1B2|A4D1B3|B9EJG5	Missense_Mutation	SNP	ENST00000398291.3	37	c.686C>T	CCDS47625.1	.	.	.	.	.	.	.	.	.	.	G	25.6	4.650245	0.87958	.	.	ENSG00000214415	ENST00000398291	D	0.82619	-1.63	5.2	5.2	0.72013	.	0.000000	0.85682	U	0.000000	D	0.92371	0.7579	M	0.87900	2.915	0.80722	D	1	D	0.89917	1.0	D	0.80764	0.994	D	0.92927	0.6360	9	.	.	.	.	19.1084	0.93307	0.0:0.0:1.0:0.0	.	229	A8MTJ3	GNAT3_HUMAN	V	229	ENSP00000381339:A229V	.	A	-	2	0	GNAT3	79929788	1.000000	0.71417	1.000000	0.80357	0.977000	0.68977	7.928000	0.87587	2.579000	0.87056	0.655000	0.94253	GCC		0.398	GNAT3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000339909.3	XM_294370		26	59	0	0	0	1	0	26	59				
RHBDD3	25807	broad.mit.edu	37	22	29656597	29656597	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr22:29656597G>A	ENST00000216085.7	-	6	1125	c.701C>T	c.(700-702)cCc>cTc	p.P234L	CTA-984G1.5_ENST00000433125.1_RNA	NM_012265.1	NP_036397.1	Q9Y3P4	RHBD3_HUMAN	rhomboid domain containing 3	234					liver development (GO:0001889)|MAPK cascade (GO:0000165)|negative regulation of natural killer cell activation (GO:0032815)|positive regulation of protein catabolic process (GO:0045732)|regulation of acute inflammatory response (GO:0002673)|regulation of protein secretion (GO:0050708)|response to xenobiotic stimulus (GO:0009410)	integral component of membrane (GO:0016021)	serine-type endopeptidase activity (GO:0004252)			lung(1)|ovary(1)	2						TCCAGGGATGGGAGGCCTGGA	0.667																																						ENST00000216085.7																			0				lung(1)|ovary(1)	2						c.(700-702)cCc>cTc		rhomboid domain containing 3							14.0	15.0	15.0					22																	29656597		2198	4295	6493	SO:0001583	missense	25807					integral to membrane	serine-type endopeptidase activity	g.chr22:29656597G>A	AL050346	CCDS13850.1	22q12.2	2006-02-22	2006-02-22	2006-02-22	ENSG00000100263	ENSG00000100263			1308	protein-coding gene	gene with protein product			"""chromosome 22 open reading frame 3"""	C22orf3		10591208, 15105437	Standard	NM_012265		Approved	PTAG	uc003aeq.1	Q9Y3P4	OTTHUMG00000151032	ENST00000216085.7:c.701C>T	22.37:g.29656597G>A	ENSP00000216085:p.Pro234Leu						p.P234L	NM_012265.1	NP_036397.1	Q9Y3P4	RHBD3_HUMAN			6	1125	-			234					Q6I9X3|Q9UGQ7	Missense_Mutation	SNP	ENST00000216085.7	37	c.701C>T	CCDS13850.1	.	.	.	.	.	.	.	.	.	.	G	10.84	1.464521	0.26335	.	.	ENSG00000100263	ENST00000216085	T	0.23552	1.9	5.23	4.18	0.49190	.	0.474592	0.19568	N	0.111174	T	0.25382	0.0617	L	0.51422	1.61	0.09310	N	0.999999	B	0.23442	0.085	B	0.19666	0.026	T	0.19943	-1.0290	10	0.72032	D	0.01	-8.1635	12.1451	0.54018	0.0:0.0:0.8283:0.1717	.	234	Q9Y3P4	RHBD3_HUMAN	L	234	ENSP00000216085:P234L	ENSP00000216085:P234L	P	-	2	0	RHBDD3	27986597	0.675000	0.27558	0.188000	0.23233	0.195000	0.23768	3.221000	0.51215	1.153000	0.42468	0.655000	0.94253	CCC		0.667	RHBDD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321085.1	NM_012265		8	12	0	0	0	1	0	8	12				
FAM184A	79632	broad.mit.edu	37	6	119281277	119281277	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr6:119281277G>T	ENST00000338891.7	-	18	3857	c.3414C>A	c.(3412-3414)ttC>ttA	p.F1138L	RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000368475.4_Missense_Mutation_p.F934L|FAM184A_ENST00000521531.1_Missense_Mutation_p.F1054L|FAM184A_ENST00000352896.5_Missense_Mutation_p.F969L	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN	family with sequence similarity 184, member A	1138						extracellular space (GO:0005615)				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						TTCAGAATGTGAAGTACCGGG	0.428																																						ENST00000338891.7																			0				breast(2)|central_nervous_system(2)|endometrium(2)|kidney(5)|large_intestine(19)|lung(13)|ovary(2)|pancreas(1)|prostate(1)|skin(5)	52						c.(3412-3414)ttC>ttA		family with sequence similarity 184, member A							61.0	63.0	63.0					6																	119281277		1879	4089	5968	SO:0001583	missense	79632							g.chr6:119281277G>T	BC009055	CCDS43499.1, CCDS43500.1, CCDS75508.1	6q22.31	2008-08-14	2008-08-14	2008-08-14	ENSG00000111879	ENSG00000111879			20991	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 60"""	C6orf60		11230166	Standard	NM_024581		Approved	FLJ13942	uc003pyj.3	Q8NB25	OTTHUMG00000015471	ENST00000338891.7:c.3414C>A	6.37:g.119281277G>T	ENSP00000342604:p.Phe1138Leu					FAM184A_ENST00000521531.1_Missense_Mutation_p.F1054L|FAM184A_ENST00000352896.5_Missense_Mutation_p.F969L|RP11-351A11.1_ENST00000518570.1_RNA|FAM184A_ENST00000368475.4_Missense_Mutation_p.F934L	p.F1138L	NM_024581.4	NP_078857.5	Q8NB25	F184A_HUMAN			18	3857	-			1138					B9DI75|F8W8D6|Q5TBS9|Q7Z323|Q96GY8|Q9H0J8|Q9H851	Missense_Mutation	SNP	ENST00000338891.7	37	c.3414C>A	CCDS43499.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	21.7|21.7|21.7	4.186543|4.186543|4.186543	0.78789|0.78789|0.78789	.|.|.	.|.|.	ENSG00000111879|ENSG00000111879|ENSG00000111879	ENST00000521043;ENST00000338891;ENST00000352896;ENST00000368475;ENST00000368472;ENST00000521531|ENST00000517987|ENST00000481884	T;T;T;T;T|.|.	0.69175|.|.	0.27;0.36;-0.03;-0.38;-0.3|.|.	5.39|5.39|5.39	4.51|4.51|4.51	0.55191|0.55191|0.55191	.|.|.	0.062472|.|.	0.64402|.|.	D|.|.	0.000003|.|.	T|T|.	0.55529|0.55529|.	0.1926|0.1926|.	M|M|M	0.70275|0.70275|0.70275	2.135|2.135|2.135	0.80722|0.80722|0.80722	D|D|D	1|1|1	D;D;D|.|.	0.63046|.|.	0.99;0.99;0.992|.|.	D;D;D|.|.	0.75484|.|.	0.979;0.979;0.986|.|.	T|T|.	0.58387|0.58387|.	-0.7645|-0.7645|.	10|5|.	0.87932|.|.	D|.|.	0|.|.	-8.2841|-8.2841|-8.2841	10.8775|10.8775|10.8775	0.46919|0.46919|0.46919	0.0693:0.0:0.7999:0.1308|0.0693:0.0:0.7999:0.1308|0.0693:0.0:0.7999:0.1308	.|.|.	1054;969;1138|.|.	Q8NB25-2;F8W8D6;Q8NB25|.|.	.;.;F184A_HUMAN|.|.	L|N|X	266;1138;969;934;163;1054|68|72	ENSP00000342604:F1138L;ENSP00000326608:F969L;ENSP00000357460:F934L;ENSP00000357457:F163L;ENSP00000430442:F1054L|.|.	ENSP00000342604:F1138L|.|.	F|H|S	-|-|-	3|1|2	2|0|0	FAM184A|FAM184A|FAM184A	119322976|119322976|119322976	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.908000|0.908000|0.908000	0.53690|0.53690|0.53690	6.268000|6.268000|6.268000	0.72552|0.72552|0.72552	1.374000|1.374000|1.374000	0.46228|0.46228|0.46228	0.557000|0.557000|0.557000	0.71058|0.71058|0.71058	TTC|CAC|TCA		0.428	FAM184A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042009.3	NM_024581		19	39	1	0	2.98393e-07	1	3.19744e-07	19	39				
RUNDC3B	154661	broad.mit.edu	37	7	87369141	87369141	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:87369141G>A	ENST00000338056.3	+	6	955	c.544G>A	c.(544-546)Gaa>Aaa	p.E182K	RUNDC3B_ENST00000493037.1_Missense_Mutation_p.E165K|RUNDC3B_ENST00000394654.3_Missense_Mutation_p.E165K|RUNDC3B_ENST00000496000.1_3'UTR	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN	RUN domain containing 3B	182	RUN. {ECO:0000255|PROSITE- ProRule:PRU00178}.									breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26	Esophageal squamous(14;0.00164)					TGTCTTGGGTGAAGAAGCAAA	0.303																																						ENST00000338056.3																			0				breast(2)|endometrium(3)|kidney(2)|large_intestine(7)|lung(8)|ovary(1)|prostate(1)|skin(2)	26						c.(544-546)Gaa>Aaa		RUN domain containing 3B							64.0	64.0	64.0					7																	87369141		2203	4300	6503	SO:0001583	missense	154661							g.chr7:87369141G>A		CCDS5609.1, CCDS47635.1, CCDS47636.1	7q21.12	2009-01-14			ENSG00000105784	ENSG00000105784			30286	protein-coding gene	gene with protein product						12645870	Standard	NM_138290		Approved	RPIP9, RPIB9	uc003ujb.3	Q96NL0	OTTHUMG00000131035	ENST00000338056.3:c.544G>A	7.37:g.87369141G>A	ENSP00000337732:p.Glu182Lys					RUNDC3B_ENST00000493037.1_Missense_Mutation_p.E165K|RUNDC3B_ENST00000496000.1_3'UTR|RUNDC3B_ENST00000394654.3_Missense_Mutation_p.E165K	p.E182K	NM_001134405.1|NM_138290.2	NP_001127877.1|NP_612147.1	Q96NL0	RUN3B_HUMAN			6	955	+	Esophageal squamous(14;0.00164)		182			RUN.		B4DFD0|E9PBR4|Q8IWW5|Q8NB55|Q8TBG7	Missense_Mutation	SNP	ENST00000338056.3	37	c.544G>A	CCDS5609.1	.	.	.	.	.	.	.	.	.	.	G	27.5	4.841226	0.91197	.	.	ENSG00000105784	ENST00000338056;ENST00000493037;ENST00000394654	T;T;T	0.12774	2.65;2.65;2.65	4.79	4.79	0.61399	RUN (3);	0.051028	0.85682	D	0.000000	T	0.44808	0.1311	M	0.89414	3.03	0.80722	D	1	D;D;D;D;D	0.89917	0.999;0.999;0.996;0.996;1.0	D;D;D;D;D	0.81914	0.995;0.995;0.987;0.987;0.992	T	0.55692	-0.8101	10	0.72032	D	0.01	-5.6269	16.6142	0.84902	0.0:0.0:1.0:0.0	.	165;165;87;165;182	E9PBR4;B4DFD0;Q96NL0-2;Q96NL0-4;Q96NL0	.;.;.;.;RUN3B_HUMAN	K	182;165;165	ENSP00000337732:E182K;ENSP00000420394:E165K;ENSP00000378149:E165K	ENSP00000337732:E182K	E	+	1	0	RUNDC3B	87207077	1.000000	0.71417	1.000000	0.80357	0.992000	0.81027	7.724000	0.84798	2.216000	0.71823	0.460000	0.39030	GAA		0.303	RUNDC3B-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253679.1	NM_138290		15	29	0	0	0	1	0	15	29				
SCAMP2	10066	broad.mit.edu	37	15	75142895	75142895	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr15:75142895C>T	ENST00000268099.9	-	6	701	c.592G>A	c.(592-594)Gcc>Acc	p.A198T		NM_005697.3	NP_005688.2	O15127	SCAM2_HUMAN	secretory carrier membrane protein 2	198					post-Golgi vesicle-mediated transport (GO:0006892)|protein transport (GO:0015031)	extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)|recycling endosome membrane (GO:0055038)|trans-Golgi network membrane (GO:0032588)|transport vesicle (GO:0030133)				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	9						CAAAGGAAGGCACAGGGAGTG	0.562																																						ENST00000268099.9																			0				kidney(1)|large_intestine(1)|lung(3)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	9						c.(592-594)Gcc>Acc		secretory carrier membrane protein 2							175.0	165.0	168.0					15																	75142895		2197	4295	6492	SO:0001583	missense	10066				post-Golgi vesicle-mediated transport|protein transport	integral to membrane|nucleus|recycling endosome membrane|trans-Golgi network membrane	protein binding	g.chr15:75142895C>T	AF005038	CCDS10271.1	15q23-q25	2013-02-21			ENSG00000140497	ENSG00000140497		"""Secretory carrier membrane proteins"""	10564	protein-coding gene	gene with protein product		606912				9378760	Standard	NM_005697		Approved		uc002azb.1	O15127	OTTHUMG00000142817	ENST00000268099.9:c.592G>A	15.37:g.75142895C>T	ENSP00000268099:p.Ala198Thr						p.A198T	NM_005697.3	NP_005688.2	O15127	SCAM2_HUMAN			6	701	-			198					B2RDF0|Q9BQE8	Missense_Mutation	SNP	ENST00000268099.9	37	c.592G>A	CCDS10271.1	.	.	.	.	.	.	.	.	.	.	C	28.1	4.886304	0.91814	.	.	ENSG00000140497	ENST00000268099;ENST00000543345	T	0.21031	2.03	4.57	4.57	0.56435	.	0.057318	0.64402	D	0.000002	T	0.37785	0.1016	M	0.67953	2.075	0.58432	D	0.999994	P;P	0.46706	0.624;0.883	P;P	0.52031	0.542;0.688	T	0.32161	-0.9917	10	0.87932	D	0	.	16.7305	0.85433	0.0:1.0:0.0:0.0	.	198;167	O15127;B3KU14	SCAM2_HUMAN;.	T	198;167	ENSP00000268099:A198T	ENSP00000268099:A198T	A	-	1	0	SCAMP2	72929948	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	4.070000	0.57548	2.258000	0.74832	0.491000	0.48974	GCC		0.562	SCAMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000286403.3	NM_005697		52	153	0	0	0	1	0	52	153				
STK32C	282974	broad.mit.edu	37	10	134038745	134038745	+	Nonsense_Mutation	SNP	G	G	A	rs370764886		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr10:134038745G>A	ENST00000368622.1	-	7	898	c.517C>T	c.(517-519)Cga>Tga	p.R173*	STK32C_ENST00000368625.4_Nonsense_Mutation_p.R303*					serine/threonine kinase 32C											breast(1)|endometrium(2)|large_intestine(2)|lung(15)|ovary(2)|skin(1)	23		all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203)		Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222)		ACCCATCCTCGCAGCAGCTCA	0.662																																						ENST00000368622.1																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(15)|ovary(2)|skin(1)	23						c.(517-519)Cga>Tga		serine/threonine kinase 32C		G	stop/ARG	1,4397	2.1+/-5.4	0,1,2198	40.0	41.0	41.0		868	3.6	0.9	10		41	0,8600		0,0,4300	no	stop-gained	STK32C	NM_173575.2		0,1,6498	AA,AG,GG		0.0,0.0227,0.0077		290/487	134038745	1,12997	2199	4300	6499	SO:0001587	stop_gained	282974						ATP binding|metal ion binding|protein serine/threonine kinase activity	g.chr10:134038745G>A	AK057849	CCDS7666.1	10q26.3	2004-07-22			ENSG00000165752	ENSG00000165752			21332	protein-coding gene	gene with protein product							Standard	NM_173575		Approved	PKE, MGC23665, YANK3	uc001lle.1	Q86UX6	OTTHUMG00000019285	ENST00000368622.1:c.517C>T	10.37:g.134038745G>A	ENSP00000357611:p.Arg173*					STK32C_ENST00000368625.4_Nonsense_Mutation_p.R303*	p.R173*			Q86UX6	ST32C_HUMAN		Epithelial(32;3.99e-05)|all cancers(32;5.58e-05)|OV - Ovarian serous cystadenocarcinoma(35;9.96e-05)|BRCA - Breast invasive adenocarcinoma(275;0.222)	7	898	-		all_cancers(35;2.72e-11)|all_epithelial(44;2.33e-08)|Lung NSC(174;0.000855)|all_lung(145;0.00146)|all_neural(114;0.0299)|Breast(234;0.106)|Colorectal(31;0.112)|Melanoma(40;0.124)|Glioma(114;0.203)	290			Protein kinase.			Nonsense_Mutation	SNP	ENST00000368622.1	37	c.517C>T		.	.	.	.	.	.	.	.	.	.	G	40	8.130857	0.98670	2.27E-4	0.0	ENSG00000165752	ENST00000368622;ENST00000298630;ENST00000368625	.	.	.	4.49	3.57	0.40892	.	0.000000	0.64402	D	0.000019	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.20046	T	0.44	.	13.525	0.61591	0.0:0.0:0.8423:0.1577	.	.	.	.	X	173;290;303	.	ENSP00000298630:R290X	R	-	1	2	STK32C	133888735	0.997000	0.39634	0.886000	0.34754	0.663000	0.39108	2.747000	0.47475	0.883000	0.36040	-0.238000	0.12139	CGA		0.662	STK32C-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000051068.2	NM_173575		9	24	0	0	0	1	0	9	24				
ITGAM	3684	broad.mit.edu	37	16	31308946	31308946	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr16:31308946C>T	ENST00000287497.8	+	13	1543	c.1468C>T	c.(1468-1470)Cag>Tag	p.Q490*	ITGAM_ENST00000544665.3_Nonsense_Mutation_p.Q490*			P11215	ITAM_HUMAN	integrin, alpha M (complement component 3 receptor 3 subunit)	490					activated T cell proliferation (GO:0050798)|blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|cellular extravasation (GO:0045123)|ectodermal cell differentiation (GO:0010668)|extracellular matrix organization (GO:0030198)|innate immune response (GO:0045087)|integrin-mediated signaling pathway (GO:0007229)|leukocyte cell-cell adhesion (GO:0007159)|leukocyte migration (GO:0050900)|leukocyte migration involved in inflammatory response (GO:0002523)|microglia development (GO:0014005)|neutrophil chemotaxis (GO:0030593)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor signaling pathway (GO:0002224)	cell surface (GO:0009986)|external side of plasma membrane (GO:0009897)|extracellular vesicular exosome (GO:0070062)|integrin complex (GO:0008305)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	glycoprotein binding (GO:0001948)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)			endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						CCGAGGGGGCCAGGTGTCCGT	0.706																																						ENST00000544665.3																			0				endometrium(7)|kidney(1)|large_intestine(10)|lung(32)|ovary(1)|prostate(4)|skin(1)	56						c.(1468-1470)Cag>Tag		integrin, alpha M (complement component 3 receptor 3 subunit)							51.0	58.0	55.0					16																	31308946		2189	4292	6481	SO:0001587	stop_gained	3684				blood coagulation|cell adhesion|integrin-mediated signaling pathway|leukocyte migration	integrin complex	glycoprotein binding|receptor activity	g.chr16:31308946C>T	J03925	CCDS45470.1, CCDS54004.1	16p11.2	2010-03-23	2006-02-10			ENSG00000169896		"""CD molecules"", ""Complement system"", ""Integrins"""	6149	protein-coding gene	gene with protein product		120980	"""integrin, alpha M (complement component receptor 3, alpha; also known as CD11b (p170), macrophage antigen alpha polypeptide)"""	CR3A, CD11B			Standard	NM_001145808		Approved	MAC-1, CD11b	uc002ebr.3	P11215		ENST00000287497.8:c.1468C>T	16.37:g.31308946C>T	ENSP00000287497:p.Gln490*					ITGAM_ENST00000287497.8_Nonsense_Mutation_p.Q490*	p.Q490*	NM_000632.3|NM_001145808.1	NP_000623.2|NP_001139280.1	P11215	ITAM_HUMAN			13	1539	+			490					Q4VAK0|Q4VAK1|Q4VAK2	Nonsense_Mutation	SNP	ENST00000287497.8	37	c.1468C>T	CCDS45470.1	.	.	.	.	.	.	.	.	.	.	C	35	5.511009	0.96386	.	.	ENSG00000169896	ENST00000544665;ENST00000287497	.	.	.	4.0	4.0	0.46444	.	.	.	.	.	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.21014	T	0.42	.	11.8116	0.52185	0.0:1.0:0.0:0.0	.	.	.	.	X	490	.	ENSP00000287497:Q490X	Q	+	1	0	ITGAM	31216447	0.002000	0.14202	1.000000	0.80357	0.829000	0.46940	0.519000	0.22862	2.208000	0.71279	0.655000	0.94253	CAG		0.706	ITGAM-002	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000432816.1	NM_000632		55	95	0	0	0	1	0	55	95				
SCUBE3	222663	broad.mit.edu	37	6	35196408	35196408	+	Silent	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr6:35196408C>A	ENST00000274938.7	+	3	226	c.226C>A	c.(226-228)Cga>Aga	p.R76R	SCUBE3_ENST00000394681.1_Silent_p.R76R	NM_152753.2	NP_689966.2			signal peptide, CUB domain, EGF-like 3											breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						TGAGTGCGAGCGAGAGGATAA	0.537																																						ENST00000274938.7																			0				breast(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(12)|lung(11)|ovary(1)|prostate(1)|skin(2)|urinary_tract(1)	37						c.(226-228)Cga>Aga		signal peptide, CUB domain, EGF-like 3							211.0	134.0	160.0					6																	35196408		2203	4300	6503	SO:0001819	synonymous_variant	222663				protein heterooligomerization|protein homooligomerization	cell surface|extracellular region	calcium ion binding|protein binding	g.chr6:35196408C>A	AF452494.1	CCDS4800.1	6p21.3	2008-02-05	2004-05-19	2004-05-21		ENSG00000146197			13655	protein-coding gene	gene with protein product		614708	"""CUB domain and EGF-like repeat containing 3"""	CEGF3		12270931	Standard	NM_152753		Approved	FLJ34743	uc003okf.1	Q8IX30		ENST00000274938.7:c.226C>A	6.37:g.35196408C>A						SCUBE3_ENST00000394681.1_Silent_p.R76R	p.R76R	NM_152753.2	NP_689966.2	Q8IX30	SCUB3_HUMAN			3	226	+			76			EGF-like 2; calcium-binding (Potential).			Silent	SNP	ENST00000274938.7	37	c.226C>A	CCDS4800.1																																																																																				0.537	SCUBE3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040275.1	NM_152753		12	20	1	0	0.00010058	1	0.000103618	12	20				
RNF20	56254	broad.mit.edu	37	9	104302630	104302630	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr9:104302630T>C	ENST00000389120.3	+	3	365	c.275T>C	c.(274-276)aTt>aCt	p.I92T		NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN	ring finger protein 20, E3 ubiquitin protein ligase	92					histone H2B ubiquitination (GO:0033523)|histone monoubiquitination (GO:0010390)|negative regulation of cell migration (GO:0030336)|positive regulation of histone methylation (GO:0031062)|positive regulation of transcription, DNA-templated (GO:0045893)|protein polyubiquitination (GO:0000209)|regulation of transcription, DNA-templated (GO:0006355)|ubiquitin-dependent protein catabolic process (GO:0006511)	HULC complex (GO:0033503)|nucleolus (GO:0005730)|nucleus (GO:0005634)|ubiquitin ligase complex (GO:0000151)	chromatin binding (GO:0003682)|histone binding (GO:0042393)|ligase activity (GO:0016874)|p53 binding (GO:0002039)|transcription coactivator activity (GO:0003713)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)		TCACTATTGATTGTCAACCGA	0.408																																						ENST00000389120.3																			0				breast(3)|endometrium(3)|kidney(6)|large_intestine(7)|lung(23)|ovary(4)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.(274-276)aTt>aCt		ring finger protein 20, E3 ubiquitin protein ligase							177.0	164.0	168.0					9																	104302630		2203	4300	6503	SO:0001583	missense	56254				histone H2B ubiquitination|histone monoubiquitination|negative regulation of cell migration|positive regulation of transcription, DNA-dependent|protein polyubiquitination|ubiquitin-dependent protein catabolic process	nucleolus|ubiquitin ligase complex	histone binding|p53 binding|transcription coactivator activity|ubiquitin protein ligase binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr9:104302630T>C	AF265230	CCDS35084.1	9q22	2012-02-23	2012-02-23	2008-12-12	ENSG00000155827	ENSG00000155827		"""RING-type (C3HC4) zinc fingers"""	10062	protein-coding gene	gene with protein product	"""BRE1 E3 ubiquitin ligase homolog (S. cerevisiae)"""	607699	"""ring finger protein 20"""			16337599, 12876294, 18832071, 19037095	Standard	NM_019592		Approved	FLJ20382, FLJ11189, KAIA2779, BRE1A, hBRE1, BRE1	uc004bbn.3	Q5VTR2	OTTHUMG00000020385	ENST00000389120.3:c.275T>C	9.37:g.104302630T>C	ENSP00000373772:p.Ile92Thr						p.I92T	NM_019592.5	NP_062538.5	Q5VTR2	BRE1A_HUMAN		OV - Ovarian serous cystadenocarcinoma(323;2.88e-19)|STAD - Stomach adenocarcinoma(157;0.00311)	3	365	+		all_hematologic(171;8.99e-06)|Acute lymphoblastic leukemia(62;0.000365)|Myeloproliferative disorder(762;0.0255)	92					A7MCT5|Q2TB34|Q69YL5|Q6P527|Q8N3J4|Q96JD3|Q9H9Y7|Q9HA51|Q9NUR4|Q9NWQ3|Q9NX83	Missense_Mutation	SNP	ENST00000389120.3	37	c.275T>C	CCDS35084.1	.	.	.	.	.	.	.	.	.	.	T	16.71	3.198706	0.58126	.	.	ENSG00000155827	ENST00000389120;ENST00000478347;ENST00000488264;ENST00000374819;ENST00000479306;ENST00000466817	T	0.34275	1.37	4.17	4.17	0.49024	.	0.000000	0.85682	D	0.000000	T	0.53286	0.1787	M	0.61703	1.905	0.80722	D	1	D	0.57899	0.981	D	0.67231	0.95	T	0.51172	-0.8739	10	0.34782	T	0.22	-10.7485	13.335	0.60512	0.0:0.0:0.0:1.0	.	92	Q5VTR2	BRE1A_HUMAN	T	92;80;78;92;92;92	ENSP00000373772:I92T	ENSP00000363952:I92T	I	+	2	0	RNF20	103342451	1.000000	0.71417	0.984000	0.44739	0.933000	0.57130	6.115000	0.71566	1.895000	0.54865	0.379000	0.24179	ATT		0.408	RNF20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000356402.1	NM_019592		6	147	0	0	0	1	0	6	147				
FAT1	2195	broad.mit.edu	37	4	187549880	187549880	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr4:187549880G>C	ENST00000441802.2	-	8	4570	c.4361C>G	c.(4360-4362)cCt>cGt	p.P1454R		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	1454	Cadherin 12. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						AGAAAACTGAGGACGATGGTC	0.333										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(4360-4362)cCt>cGt		FAT atypical cadherin 1							75.0	69.0	71.0					4																	187549880		1847	4093	5940	SO:0001583	missense	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187549880G>C	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.4361C>G	4.37:g.187549880G>C	ENSP00000406229:p.Pro1454Arg	HNSCC(5;0.00058)					p.P1454R	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			8	4570	-			1454			Cadherin 12.			Missense_Mutation	SNP	ENST00000441802.2	37	c.4361C>G	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	G	25.1	4.600801	0.87055	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	D	0.81579	-1.51	5.49	5.49	0.81192	Cadherin (3);Cadherin conserved site (1);Cadherin-like (1);	0.000000	0.85682	D	0.000000	D	0.95111	0.8416	H	0.99650	4.68	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	D	0.96994	0.9724	10	0.87932	D	0	.	19.5755	0.95441	0.0:0.0:1.0:0.0	.	1454	Q14517	FAT1_HUMAN	R	1454	ENSP00000406229:P1454R	ENSP00000260147:P1454R	P	-	2	0	FAT1	187786874	1.000000	0.71417	1.000000	0.80357	0.907000	0.53573	9.657000	0.98554	2.865000	0.98341	0.655000	0.94253	CCT		0.333	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		7	21	0	0	0	1	0	7	21				
SNHG14	104472715	broad.mit.edu	37	15	25486971	25486971	+	RNA	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr15:25486971G>A	ENST00000453082.2	+	0	2156				SNORD115-39_ENST00000363694.1_RNA|SNORD115-38_ENST00000365037.1_RNA|SNORD115-40_ENST00000606510.1_RNA	NR_003343.1				small nucleolar RNA host gene 14 (non-protein coding)																		TTACGCTGAGGCCCAGCCTAG	0.488																																						ENST00000453082.2																			0																				341.0	344.0	343.0					15																	25486971		876	1991	2867			104472715							g.chr15:25486971G>A			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25486971G>A						SNORD115-39_ENST00000363694.1_RNA		NR_003343.1						0	2156	+									RNA	SNP	ENST00000453082.2	37																																																																																						0.488	SNHG14-003	KNOWN	non_canonical_TEC|basic	antisense	processed_transcript	OTTHUMT00000126730.2			102	239	0	0	0	1	0	102	239				
FOXF1	2294	broad.mit.edu	37	16	86546540	86546540	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr16:86546540G>A	ENST00000262426.4	+	2	1032	c.989G>A	c.(988-990)cGg>cAg	p.R330Q		NM_001451.2	NP_001442.2	Q12946	FOXF1_HUMAN	forkhead box F1	330			R -> W (in ACDMPV; unknown pathological significance). {ECO:0000269|PubMed:23505205}.		blood vessel development (GO:0001568)|branching involved in open tracheal system development (GO:0060446)|cardiac left ventricle morphogenesis (GO:0003214)|cellular response to cytokine stimulus (GO:0071345)|cellular response to organic cyclic compound (GO:0071407)|detection of wounding (GO:0014822)|determination of left/right symmetry (GO:0007368)|digestive tract development (GO:0048565)|ductus arteriosus closure (GO:0097070)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic ectodermal digestive tract morphogenesis (GO:0048613)|embryonic foregut morphogenesis (GO:0048617)|endocardial cushion development (GO:0003197)|epithelial cell differentiation involved in mammary gland alveolus development (GO:0061030)|epithelial tube branching involved in lung morphogenesis (GO:0060441)|establishment of epithelial cell apical/basal polarity (GO:0045198)|extracellular matrix organization (GO:0030198)|heart development (GO:0007507)|in utero embryonic development (GO:0001701)|lateral mesodermal cell differentiation (GO:0048371)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung vasculature development (GO:0060426)|mesenchyme migration (GO:0090131)|midgut development (GO:0007494)|morphogenesis of a branching structure (GO:0001763)|negative regulation of inflammatory response (GO:0050728)|negative regulation of mast cell degranulation (GO:0043305)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|pancreas development (GO:0031016)|positive regulation of cell migration (GO:0030335)|positive regulation of cell-substrate adhesion (GO:0010811)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of smooth muscle cell differentiation (GO:0051150)|renal system development (GO:0072001)|respiratory tube development (GO:0030323)|right lung morphogenesis (GO:0060461)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle cell differentiation (GO:0051145)|smoothened signaling pathway (GO:0007224)|somitogenesis (GO:0001756)|trachea development (GO:0060438)|ureter development (GO:0072189)|vasculogenesis (GO:0001570)|venous blood vessel development (GO:0060841)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	DNA binding (GO:0003677)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001228)|sequence-specific DNA binding (GO:0043565)			autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	12						GGCATCCCGCGGTATCACTCG	0.632																																						ENST00000262426.4																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|large_intestine(3)|lung(4)|ovary(1)|urinary_tract(1)	12						c.(988-990)cGg>cAg		forkhead box F1							75.0	70.0	72.0					16																	86546540		2198	4300	6498	SO:0001583	missense	2294				branching involved in open tracheal system development|cardiac left ventricle morphogenesis|embryonic ectodermal digestive tract morphogenesis|endocardial cushion development|in utero embryonic development|lung vasculature development|midgut development|pancreas development|positive regulation of transcription, DNA-dependent|regulation of sequence-specific DNA binding transcription factor activity|ureter development|venous blood vessel development	transcription factor complex	DNA bending activity|double-stranded DNA binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription factor binding	g.chr16:86546540G>A	U13219	CCDS10957.2	16q24	2008-02-05			ENSG00000103241	ENSG00000103241		"""Forkhead boxes"""	3809	protein-coding gene	gene with protein product		601089		FKHL5		8825632, 7957066	Standard	NM_001451		Approved	FREAC1	uc002fjl.3	Q12946	OTTHUMG00000137651	ENST00000262426.4:c.989G>A	16.37:g.86546540G>A	ENSP00000262426:p.Arg330Gln						p.R330Q	NM_001451.2	NP_001442.2	Q12946	FOXF1_HUMAN			2	1032	+			330					B2RAF4|Q5FWE5	Missense_Mutation	SNP	ENST00000262426.4	37	c.989G>A	CCDS10957.2	.	.	.	.	.	.	.	.	.	.	G	24.5	4.538949	0.85917	.	.	ENSG00000103241	ENST00000262426	D	0.98164	-4.76	4.88	4.88	0.63580	.	0.593745	0.16339	N	0.218792	D	0.96482	0.8852	L	0.49126	1.545	0.58432	D	0.999999	P	0.49862	0.929	B	0.39258	0.295	D	0.96505	0.9374	10	0.46703	T	0.11	.	17.3653	0.87362	0.0:0.0:1.0:0.0	.	330	Q12946	FOXF1_HUMAN	Q	330	ENSP00000262426:R330Q	ENSP00000262426:R330Q	R	+	2	0	FOXF1	85104041	1.000000	0.71417	0.946000	0.38457	0.956000	0.61745	9.183000	0.94887	2.392000	0.81423	0.655000	0.94253	CGG		0.632	FOXF1-001	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000269103.2	NM_001451		20	39	0	0	0	1	0	20	39				
TMED5	50999	broad.mit.edu	37	1	93645724	93645724	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:93645724C>T	ENST00000370282.3	-	1	561	c.76G>A	c.(76-78)Gcc>Acc	p.A26T	CCDC18_ENST00000334652.5_5'Flank|CCDC18_ENST00000557479.1_5'Flank|TMED5_ENST00000479918.1_Missense_Mutation_p.A26T|TMED5_ENST00000370280.1_Missense_Mutation_p.A26T|CCDC18_ENST00000343253.7_5'UTR|CCDC18_ENST00000401026.3_5'Flank|CCDC18_ENST00000338949.4_5'Flank	NM_016040.4	NP_057124.3	Q9Y3A6	TMED5_HUMAN	transmembrane emp24 protein transport domain containing 5	26					Golgi ribbon formation (GO:0090161)|protein transport (GO:0015031)	cis-Golgi network (GO:0005801)|endoplasmic reticulum exit site (GO:0070971)|endoplasmic reticulum-Golgi intermediate compartment (GO:0005793)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	6		all_lung(203;0.0223)|Lung NSC(277;0.071)|Melanoma(281;0.147)|Glioma(108;0.188)		all cancers(265;0.00108)|GBM - Glioblastoma multiforme(16;0.00407)|Epithelial(280;0.0797)		GTGAAGCCGGCCGCCCCAGGC	0.667																																						ENST00000370282.3																			0				breast(1)|endometrium(1)|large_intestine(2)|lung(1)|ovary(1)	6						c.(76-78)Gcc>Acc		transmembrane emp24 protein transport domain containing 5							53.0	57.0	56.0					1																	93645724		2203	4300	6503	SO:0001583	missense	50999				transport	endoplasmic reticulum membrane|ER-Golgi intermediate compartment|integral to membrane		g.chr1:93645724C>T	BC070051	CCDS743.1, CCDS53342.1	1p22.1	2013-09-19			ENSG00000117500	ENSG00000117500			24251	protein-coding gene	gene with protein product						10810093	Standard	NM_016040		Approved	CGI-100	uc001dpn.3	Q9Y3A6	OTTHUMG00000010162	ENST00000370282.3:c.76G>A	1.37:g.93645724C>T	ENSP00000359305:p.Ala26Thr					TMED5_ENST00000370280.1_Missense_Mutation_p.A26T|TMED5_ENST00000479918.1_Missense_Mutation_p.A26T|CCDC18_ENST00000343253.7_5'UTR	p.A26T	NM_016040.4	NP_057124.3	Q9Y3A6	TMED5_HUMAN		all cancers(265;0.00108)|GBM - Glioblastoma multiforme(16;0.00407)|Epithelial(280;0.0797)	1	561	-		all_lung(203;0.0223)|Lung NSC(277;0.071)|Melanoma(281;0.147)|Glioma(108;0.188)	26					B1AKT4|B2R703|D3DT38|Q96AX8	Missense_Mutation	SNP	ENST00000370282.3	37	c.76G>A	CCDS743.1	.	.	.	.	.	.	.	.	.	.	C	16.82	3.228976	0.58777	.	.	ENSG00000117500	ENST00000370282;ENST00000479918;ENST00000370280	T;T;T	0.47869	1.42;0.83;0.87	5.22	0.564	0.17302	.	0.248932	0.40554	N	0.001063	T	0.10551	0.0258	N	0.19112	0.55	0.48696	D	0.99969	B;B	0.06786	0.0;0.001	B;B	0.04013	0.001;0.001	T	0.08371	-1.0725	10	0.19590	T	0.45	-4.7646	4.7464	0.13040	0.1765:0.4931:0.0:0.3304	.	26;26	B1AKT4;Q9Y3A6	.;TMED5_HUMAN	T	26	ENSP00000359305:A26T;ENSP00000418992:A26T;ENSP00000359303:A26T	ENSP00000359303:A26T	A	-	1	0	TMED5	93418312	0.467000	0.25831	0.476000	0.27291	0.363000	0.29612	0.325000	0.19628	0.307000	0.22880	-0.463000	0.05309	GCC		0.667	TMED5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000028076.3	NM_016040		33	76	0	0	0	1	0	33	76				
DCAF12L2	340578	broad.mit.edu	37	X	125298689	125298689	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chrX:125298689C>T	ENST00000360028.2	-	1	1245	c.1219G>A	c.(1219-1221)Ggc>Agc	p.G407S	DCAF12L2_ENST00000538699.1_Missense_Mutation_p.G407S			Q5VW00	DC122_HUMAN	DDB1 and CUL4 associated factor 12-like 2	407										NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						CAGCCTCTGCCGCAGGCAAGC	0.607																																						ENST00000538699.1																			0				NS(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(11)|lung(36)|ovary(2)|pancreas(1)|skin(2)|upper_aerodigestive_tract(3)	64						c.(1219-1221)Ggc>Agc		DDB1 and CUL4 associated factor 12-like 2							87.0	91.0	90.0					X																	125298689		2203	4300	6503	SO:0001583	missense	340578							g.chrX:125298689C>T	AL445072	CCDS43991.1	Xq25	2013-01-09	2009-07-17	2009-07-17	ENSG00000198354	ENSG00000198354		"""WD repeat domain containing"""	32950	protein-coding gene	gene with protein product			"""WD repeat domain 40C"""	WDR40C			Standard	NM_001013628		Approved		uc004euk.2	Q5VW00	OTTHUMG00000022348	ENST00000360028.2:c.1219G>A	X.37:g.125298689C>T	ENSP00000353128:p.Gly407Ser					DCAF12L2_ENST00000360028.2_Missense_Mutation_p.G407S	p.G407S	NM_001013628.2	NP_001013650.1	Q5VW00	DC122_HUMAN			2	1299	-			407					B2RN42	Missense_Mutation	SNP	ENST00000360028.2	37	c.1219G>A	CCDS43991.1	.	.	.	.	.	.	.	.	.	.	C	15.56	2.868808	0.51588	.	.	ENSG00000198354	ENST00000538699;ENST00000360028	T;T	0.19938	2.11;2.11	4.14	4.14	0.48551	.	0.000000	0.37012	N	0.002295	T	0.32133	0.0819	L	0.41632	1.29	0.40004	D	0.975207	D	0.89917	1.0	D	0.68039	0.955	T	0.02464	-1.1155	10	0.20046	T	0.44	.	13.3094	0.60371	0.0:1.0:0.0:0.0	.	407	Q5VW00	DC122_HUMAN	S	407	ENSP00000441489:G407S;ENSP00000353128:G407S	ENSP00000353128:G407S	G	-	1	0	DCAF12L2	125126370	0.993000	0.37304	0.994000	0.49952	0.769000	0.43574	2.293000	0.43558	2.305000	0.77605	0.600000	0.82982	GGC		0.607	DCAF12L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000058181.1	NM_001013628		58	39	0	0	0	1	0	58	39				
SLC1A7	6512	broad.mit.edu	37	1	53580430	53580430	+	Splice_Site	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:53580430C>T	ENST00000371494.4	-	3	558	c.431G>A	c.(430-432)cGg>cAg	p.R144Q	RP11-334A14.8_ENST00000439621.1_RNA|SLC1A7_ENST00000371491.4_Splice_Site_p.R144Q	NM_006671.4	NP_006662.3	O00341	EAA5_HUMAN	solute carrier family 1 (glutamate transporter), member 7	144					dicarboxylic acid transport (GO:0006835)|ion transport (GO:0006811)|L-glutamate transport (GO:0015813)|transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	L-glutamate transmembrane transporter activity (GO:0005313)|sodium:dicarboxylate symporter activity (GO:0017153)	p.R144Q(1)		NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26				Colorectal(1306;0.234)		CAATAGTTACCGGATGAGGTC	0.657																																					NSCLC(128;80 1811 21245 38490 51715)	ENST00000371494.4																			1	Substitution - Missense(1)	p.R144Q(1)	skin(1)	NS(1)|breast(3)|endometrium(3)|kidney(2)|large_intestine(4)|lung(8)|ovary(2)|prostate(1)|skin(1)|stomach(1)	26						c.e3+1		solute carrier family 1 (glutamate transporter), member 7	L-Glutamic Acid(DB00142)						124.0	105.0	111.0					1																	53580430		2203	4300	6503	SO:0001630	splice_region_variant	6512					integral to membrane|plasma membrane	high-affinity glutamate transmembrane transporter activity|sodium:dicarboxylate symporter activity	g.chr1:53580430C>T	U76362	CCDS574.1, CCDS72796.1, CCDS72797.1, CCDS72798.1	1p32.3	2013-05-22			ENSG00000162383	ENSG00000162383		"""Solute carriers"""	10945	protein-coding gene	gene with protein product		604471				9108121	Standard	NM_001287597		Approved	EAAT5	uc001cuy.3	O00341	OTTHUMG00000008937	ENST00000371494.4:c.431+1G>A	1.37:g.53580430C>T						SLC1A7_ENST00000371491.4_Splice_Site_p.R144_splice|RP11-334A14.8_ENST00000439621.1_RNA	p.R144_splice	NM_006671.4	NP_006662.3	O00341	EAA5_HUMAN		Colorectal(1306;0.234)	3	558	-			144					Q5VVZ0|Q969Z8|Q9BW45	Splice_Site	SNP	ENST00000371494.4	37	c.431_splice	CCDS574.1	.	.	.	.	.	.	.	.	.	.	C	36	5.742017	0.96873	.	.	ENSG00000162383	ENST00000371494;ENST00000371491	T;T	0.59502	0.26;1.28	5.42	5.42	0.78866	.	0.000000	0.85682	D	0.000000	T	0.80959	0.4724	M	0.88377	2.95	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.999;1.0	D	0.83611	0.0134	9	.	.	.	-33.1298	19.2345	0.93853	0.0:1.0:0.0:0.0	.	144;144	Q9BW45;O00341	.;EAA5_HUMAN	Q	144	ENSP00000360549:R144Q;ENSP00000360546:R144Q	.	R	-	2	0	SLC1A7	53353018	1.000000	0.71417	1.000000	0.80357	0.787000	0.44495	7.487000	0.81328	2.550000	0.86006	0.655000	0.94253	CGG		0.657	SLC1A7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000024746.1	NM_006671	Missense_Mutation	17	32	0	0	0	1	0	17	32				
LRRTM3	347731	broad.mit.edu	37	10	68686347	68686347	+	Splice_Site	SNP	T	T	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr10:68686347T>C	ENST00000361320.4	+	1	582		c.e1+2		CTNNA3_ENST00000433211.2_Intron|CTNNA3_ENST00000373744.4_Intron	NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN	leucine rich repeat transmembrane neuronal 3						positive regulation of beta-amyloid formation (GO:1902004)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|postsynaptic membrane (GO:0045211)				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						AAAGGATGGGTATGTTTTGTC	0.388																																						ENST00000361320.4																			0				breast(1)|cervix(1)|endometrium(3)|kidney(4)|large_intestine(6)|lung(20)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(3)	41						c.e1+2		leucine rich repeat transmembrane neuronal 3							143.0	144.0	143.0					10																	68686347		2203	4300	6503	SO:0001630	splice_region_variant	347731					integral to membrane		g.chr10:68686347T>C	BX640611	CCDS7270.1	10q22.1	2007-01-22				ENSG00000198739			19410	protein-coding gene	gene with protein product		610869				12676565	Standard	XR_247527		Approved		uc001jmz.1	Q86VH5		ENST00000361320.4:c.4+2T>C	10.37:g.68686347T>C						CTNNA3_ENST00000433211.1_Intron|CTNNA3_ENST00000494580.1_Intron|CTNNA3_ENST00000373744.4_Intron		NM_178011.3	NP_821079.3	Q86VH5	LRRT3_HUMAN			1	582	+								A8K2A3|Q2NKX7|Q6N0A3	Splice_Site	SNP	ENST00000361320.4	37		CCDS7270.1	.	.	.	.	.	.	.	.	.	.	T	13.14	2.148075	0.37923	.	.	ENSG00000198739	ENST00000361320;ENST00000373722	.	.	.	5.62	5.62	0.85841	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	15.0981	0.72250	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	+	.	.	LRRTM3	68356353	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	6.161000	0.71868	2.266000	0.75297	0.533000	0.62120	.		0.388	LRRTM3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048277.2	NM_178011	Intron	55	133	0	0	0	1	0	55	133				
HIST2H2BB	338391	broad.mit.edu	37	1	149376823	149376823	+	lincRNA	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:149376823G>A	ENST00000415338.1	-	0	1061				HIST2H2BB_ENST00000609585.1_RNA																							AAGACCCTGCGAGGCAGGAAC	0.502																																						ENST00000415338.1																			0																																																			338391							g.chr1:149376823G>A																													1.37:g.149376823G>A														0	1061	-									RNA	SNP	ENST00000415338.1	37																																																																																						0.502	RP5-998N21.4-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000098435.1			4	24	0	0	0	1	0	4	24				
PCOLCE	5118	broad.mit.edu	37	7	100205710	100205710	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:100205710C>T	ENST00000223061.5	+	9	1614	c.1334C>T	c.(1333-1335)gCt>gTt	p.A445V		NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN	procollagen C-endopeptidase enhancer	445					multicellular organismal development (GO:0007275)|positive regulation of peptidase activity (GO:0010952)|proteolysis (GO:0006508)	extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	collagen binding (GO:0005518)|heparin binding (GO:0008201)|peptidase activator activity (GO:0016504)			breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)					GTGCGGGCTGCTGCGTCCCAG	0.562																																						ENST00000223061.5																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(3)|lung(11)|ovary(1)|skin(2)|upper_aerodigestive_tract(3)	23						c.(1333-1335)gCt>gTt		procollagen C-endopeptidase enhancer							32.0	36.0	35.0					7																	100205710		2203	4300	6503	SO:0001583	missense	5118				multicellular organismal development	extracellular space	collagen binding|heparin binding|peptidase activator activity	g.chr7:100205710C>T	L33799	CCDS5700.1	7q22	2008-07-18			ENSG00000106333	ENSG00000106333			8738	protein-coding gene	gene with protein product	"""procollagen, type 1, COOH-terminal proteinase enhancer"", ""procollagen C-proteinase enhancer 1"""	600270				8824813, 9799793	Standard	NM_002593		Approved	PCPE, PCPE1	uc003uvo.3	Q15113	OTTHUMG00000156675	ENST00000223061.5:c.1334C>T	7.37:g.100205710C>T	ENSP00000223061:p.Ala445Val						p.A445V	NM_002593.3	NP_002584.2	Q15113	PCOC1_HUMAN			9	1614	+	Lung NSC(181;0.0261)|all_lung(186;0.0392)|Esophageal squamous(72;0.0439)		445					B2R9E1|O14550	Missense_Mutation	SNP	ENST00000223061.5	37	c.1334C>T	CCDS5700.1	.	.	.	.	.	.	.	.	.	.	C	13.53	2.265314	0.40095	.	.	ENSG00000106333	ENST00000223061	T	0.19806	2.12	4.31	3.43	0.39272	.	0.152170	0.30667	N	0.009125	T	0.11110	0.0271	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.23440	-1.0188	10	0.87932	D	0	-7.2228	10.4555	0.44548	0.0:0.9001:0.0:0.0999	.	445	Q15113	PCOC1_HUMAN	V	445	ENSP00000223061:A445V	ENSP00000223061:A445V	A	+	2	0	PCOLCE	100043646	0.872000	0.30054	0.003000	0.11579	0.060000	0.15804	2.605000	0.46283	1.116000	0.41820	0.462000	0.41574	GCT		0.562	PCOLCE-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000345285.1	NM_002593		32	63	0	0	0	1	0	32	63				
PCDHB3	56132	broad.mit.edu	37	5	140482180	140482180	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr5:140482180G>C	ENST00000231130.2	+	1	1947	c.1947G>C	c.(1945-1947)gaG>gaC	p.E649D	AC005754.7_ENST00000607216.1_RNA	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	protocadherin beta 3	649	Cadherin 6. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			ACAATGGCGAGCCTCCGCGCT	0.716																																						ENST00000231130.2																			0				NS(2)|breast(2)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(19)|lung(24)|ovary(1)|pancreas(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(3)	72						c.(1945-1947)gaG>gaC									18.0	21.0	20.0					5																	140482180		1972	3916	5888	SO:0001583	missense	56132				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to plasma membrane	calcium ion binding	g.chr5:140482180G>C	AF152496	CCDS4245.1	5q31	2010-01-26			ENSG00000113205	ENSG00000113205		"""Cadherins / Protocadherins : Clustered"""	8688	other	protocadherin		606329				10380929	Standard	NM_018937		Approved	PCDH-BETA3	uc003lio.3	Q9Y5E6	OTTHUMG00000129622	ENST00000231130.2:c.1947G>C	5.37:g.140482180G>C	ENSP00000231130:p.Glu649Asp						p.E649D	NM_018937.2	NP_061760.1	Q9Y5E6	PCDB3_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1947	+			649			Cadherin 6.		B2R8P2	Missense_Mutation	SNP	ENST00000231130.2	37	c.1947G>C	CCDS4245.1	.	.	.	.	.	.	.	.	.	.	G	7.132	0.579994	0.13686	.	.	ENSG00000113205	ENST00000231130	T	0.52754	0.65	4.38	2.51	0.30379	Cadherin (4);Cadherin-like (1);	.	.	.	.	T	0.33990	0.0882	L	0.38692	1.165	0.23865	N	0.996624	B	0.13594	0.008	B	0.23150	0.044	T	0.22208	-1.0223	9	0.35671	T	0.21	.	4.2607	0.10739	0.0857:0.28:0.4876:0.1468	.	649	Q9Y5E6	PCDB3_HUMAN	D	649	ENSP00000231130:E649D	ENSP00000231130:E649D	E	+	3	2	PCDHB3	140462364	0.000000	0.05858	0.994000	0.49952	0.310000	0.27922	-0.729000	0.04920	0.930000	0.37217	0.556000	0.70494	GAG		0.716	PCDHB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251817.2	NM_018937		31	73	0	0	0	1	0	31	73				
SZT2	23334	broad.mit.edu	37	1	43897177	43897177	+	Missense_Mutation	SNP	G	G	C	rs76392948		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:43897177G>C	ENST00000562955.1	+	34	4900	c.4900G>C	c.(4900-4902)Gag>Cag	p.E1634Q	SZT2_ENST00000372442.1_Missense_Mutation_p.E792Q	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN	seizure threshold 2 homolog (mouse)	1691					central nervous system development (GO:0007417)|corpus callosum morphogenesis (GO:0021540)|embryo development (GO:0009790)|pigmentation (GO:0043473)|post-embryonic development (GO:0009791)|regulation of superoxide dismutase activity (GO:1901668)	extracellular vesicular exosome (GO:0070062)|peroxisome (GO:0005777)				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						ACTGGCTATTGAGACCACCAT	0.468																																						ENST00000562955.1																			0				NS(2)|breast(9)|central_nervous_system(1)|endometrium(17)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(19)|lung(39)|ovary(4)|pancreas(3)|prostate(4)|skin(2)|stomach(1)|upper_aerodigestive_tract(4)|urinary_tract(3)	113						c.(4900-4902)Gag>Cag		seizure threshold 2 homolog (mouse)							112.0	112.0	112.0					1																	43897177		2203	4300	6503	SO:0001583	missense	23334					peroxisome		g.chr1:43897177G>C	AB007936	CCDS30694.1, CCDS30694.2	1p34.2	2012-11-19	2011-06-10	2011-06-10	ENSG00000198198	ENSG00000198198			29040	protein-coding gene	gene with protein product	"""seizure threshold 2 homolog A (mouse)"", ""seizure threshold 2 homolog B (mouse)"""	615463	"""chromosome 1 open reading frame 84"", ""KIAA0467"""	C1orf84, KIAA0467		9455484	Standard	NM_015284		Approved	FLJ10387, SZT2B, RP11-506B15.1, FLJ34502, SZT2A	uc001cjk.3	Q5T011	OTTHUMG00000007423	ENST00000562955.1:c.4900G>C	1.37:g.43897177G>C	ENSP00000457168:p.Glu1634Gln					SZT2_ENST00000372442.1_Missense_Mutation_p.E792Q	p.E1634Q	NM_015284.3	NP_056099.3	Q5T011	SZT2_HUMAN			34	4900	+			1691					A0PJK5|A7E2X4|O75055|Q5JUY7|Q5T012|Q5XKC7|Q6ZNI8|Q6ZT24|Q7Z636|Q8NAY9|Q9H5H7|Q9UFQ8	Missense_Mutation	SNP	ENST00000562955.1	37	c.4900G>C	CCDS30694.2	.	.	.	.	.	.	.	.	.	.	G	14.75	2.628052	0.46944	.	.	ENSG00000198198	ENST00000372442	.	.	.	5.34	5.34	0.76211	.	0.131958	0.53938	D	0.000056	T	0.48909	0.1526	N	0.14661	0.345	0.23483	N	0.99758	D	0.76494	0.999	D	0.68943	0.961	T	0.49184	-0.8966	9	0.46703	T	0.11	.	19.4188	0.94712	0.0:0.0:1.0:0.0	.	1634	Q5T011-5	.	Q	792	.	ENSP00000361519:E792Q	E	+	1	0	SZT2	43669764	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.546000	0.67243	2.664000	0.90586	0.655000	0.94253	GAG		0.468	SZT2-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000019517.3	NM_015284		44	98	0	0	0	1	0	44	98				
NSUN7	79730	broad.mit.edu	37	4	40778128	40778128	+	Silent	SNP	C	C	G			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr4:40778128C>G	ENST00000381782.2	+	7	1383	c.888C>G	c.(886-888)gtC>gtG	p.V296V	NSUN7_ENST00000463952.1_3'UTR|NSUN7_ENST00000316607.5_Silent_p.V296V	NM_024677.4	NP_078953	Q8NE18	NSUN7_HUMAN	NOP2/Sun domain family, member 7	296							methyltransferase activity (GO:0008168)|RNA binding (GO:0003723)			NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						ATGATGATGTCTTAATGGTCA	0.338																																						ENST00000381782.2																			0				NS(1)|autonomic_ganglia(1)|cervix(1)|large_intestine(1)|lung(2)|skin(1)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	12						c.(886-888)gtC>gtG		NOP2/Sun domain family, member 7							103.0	102.0	103.0					4																	40778128		2203	4298	6501	SO:0001819	synonymous_variant	79730							g.chr4:40778128C>G	BC036568	CCDS3461.2	4p14	2013-10-11	2009-11-23		ENSG00000179299	ENSG00000179299		"""NOP2/Sun domain containing"""	25857	protein-coding gene	gene with protein product			"""NOL1/NOP2/Sun domain family, member 7"""			17442852	Standard	NM_024677		Approved	FLJ14001	uc003gvj.4	Q8NE18	OTTHUMG00000128597	ENST00000381782.2:c.888C>G	4.37:g.40778128C>G						NSUN7_ENST00000463952.1_3'UTR|NSUN7_ENST00000316607.5_Silent_p.V296V	p.V296V	NM_024677.4	NP_078953.3					7	1383	+								C9JI19|Q8N9K8|Q9H815	Silent	SNP	ENST00000381782.2	37	c.888C>G	CCDS3461.2																																																																																				0.338	NSUN7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250454.2	NM_024677		13	41	0	0	0	1	0	13	41				
KIAA0319	9856	broad.mit.edu	37	6	24566860	24566860	+	Silent	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr6:24566860G>A	ENST00000378214.3	-	14	2781	c.2257C>T	c.(2257-2259)Ctg>Ttg	p.L753L	KIAA0319_ENST00000537886.1_Silent_p.L753L|KIAA0319_ENST00000430948.2_Silent_p.L708L|KIAA0319_ENST00000543707.1_Silent_p.L753L|KIAA0319_ENST00000535378.1_Silent_p.L744L	NM_001168375.1|NM_014809.3	NP_001161847.1|NP_055624.2	Q5VV43	K0319_HUMAN	KIAA0319	753	PKD 5. {ECO:0000255|PROSITE- ProRule:PRU00151}.				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						CGGATCCACAGATAGGACACA	0.488																																						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.(2230-2232)Ctg>Ttg		KIAA0319							105.0	102.0	103.0					6																	24566860		2203	4300	6503	SO:0001819	synonymous_variant	9856				negative regulation of dendrite development|neuron migration	early endosome membrane|integral to membrane|plasma membrane	protein binding	g.chr6:24566860G>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.2257C>T	6.37:g.24566860G>A						KIAA0319_ENST00000543707.1_Silent_p.L753L|KIAA0319_ENST00000430948.2_Silent_p.L708L|KIAA0319_ENST00000537886.1_Silent_p.L753L|KIAA0319_ENST00000378214.3_Silent_p.L753L	p.L744L	NM_001168374.1	NP_001161846.1	Q5VV43	K0319_HUMAN			15	2872	-			753			PKD 5.		A7MD37|B2RTU7|B4DHA7|B4DK75|B7ZML3|F5H123|Q9UJC8|Q9Y4G7	Silent	SNP	ENST00000378214.3	37	c.2230C>T	CCDS34348.1																																																																																				0.488	KIAA0319-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040009.1	NM_014809		27	66	0	0	0	1	0	27	66				
CPNE6	9362	broad.mit.edu	37	14	24546501	24546501	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr14:24546501C>T	ENST00000397016.2	+	16	1749	c.1438C>T	c.(1438-1440)Cgg>Tgg	p.R480W	CPNE6_ENST00000216775.2_Missense_Mutation_p.R480W|CPNE6_ENST00000537691.1_Missense_Mutation_p.R535W	NM_001280558.1	NP_001267487.1	O95741	CPNE6_HUMAN	copine VI (neuronal)	480	VWFA. {ECO:0000255|PROSITE- ProRule:PRU00219}.				lipid metabolic process (GO:0006629)|nervous system development (GO:0007399)|synaptic transmission (GO:0007268)|vesicle-mediated transport (GO:0016192)	axon (GO:0030424)|dendrite (GO:0030425)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	calcium ion binding (GO:0005509)|phosphatidylserine binding (GO:0001786)|transporter activity (GO:0005215)			endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22				GBM - Glioblastoma multiforme(265;0.0184)		CTCTGACATGCGGCTGCTGGA	0.627																																						ENST00000397016.2																			0				endometrium(4)|large_intestine(3)|liver(2)|lung(5)|ovary(1)|prostate(1)|skin(5)|upper_aerodigestive_tract(1)	22						c.(1438-1440)Cgg>Tgg		copine VI (neuronal)							102.0	89.0	93.0					14																	24546501		2203	4300	6503	SO:0001583	missense	9362				lipid metabolic process|nervous system development|synaptic transmission|vesicle-mediated transport		calcium ion binding|transporter activity	g.chr14:24546501C>T	AB009288	CCDS9607.1, CCDS61413.1	14q11.2	2008-07-09			ENSG00000100884	ENSG00000100884			2319	protein-coding gene	gene with protein product		605688				9645480	Standard	NM_001280558		Approved		uc001wll.3	O95741	OTTHUMG00000028781	ENST00000397016.2:c.1438C>T	14.37:g.24546501C>T	ENSP00000380211:p.Arg480Trp					CPNE6_ENST00000537691.1_Missense_Mutation_p.R535W|CPNE6_ENST00000216775.2_Missense_Mutation_p.R480W	p.R480W			O95741	CPNE6_HUMAN		GBM - Glioblastoma multiforme(265;0.0184)	16	1749	+			480			VWFA.		B2RAG6|B7Z1M3|D3DS55|F5GXN1|Q53HA6|Q8WVG1	Missense_Mutation	SNP	ENST00000397016.2	37	c.1438C>T	CCDS9607.1	.	.	.	.	.	.	.	.	.	.	C	18.81	3.704044	0.68615	.	.	ENSG00000100884	ENST00000537691;ENST00000397016;ENST00000216775	T;T;T	0.24723	1.84;1.84;1.84	5.06	2.16	0.27623	von Willebrand factor, type A (2);	0.000000	0.47852	D	0.000206	T	0.41259	0.1151	L	0.52573	1.65	0.43637	D	0.996033	D;D;D	0.76494	0.999;0.997;0.999	D;P;P	0.67103	0.949;0.676;0.889	T	0.18053	-1.0349	10	0.87932	D	0	-36.6127	12.5299	0.56109	0.4322:0.5677:0.0:0.0	.	535;305;480	F5GXN1;B3KWK1;O95741	.;.;CPNE6_HUMAN	W	535;480;480	ENSP00000440077:R535W;ENSP00000380211:R480W;ENSP00000216775:R480W	ENSP00000216775:R480W	R	+	1	2	CPNE6	23616341	0.992000	0.36948	0.998000	0.56505	0.811000	0.45836	0.672000	0.25187	0.146000	0.19002	-0.470000	0.05040	CGG		0.627	CPNE6-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071869.5			37	23	0	0	0	1	0	37	23				
FSHB	2488	broad.mit.edu	37	11	30255303	30255303	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:30255303G>A	ENST00000417547.1	+	3	385	c.346G>A	c.(346-348)Ggc>Agc	p.G116S	FSHB_ENST00000254122.3_Missense_Mutation_p.G116S|FSHB_ENST00000533718.1_Missense_Mutation_p.G116S	NM_001018080.1	NP_001018090.1	P01225	FSHB_HUMAN	follicle stimulating hormone, beta polypeptide	116					cellular protein metabolic process (GO:0044267)|female gamete generation (GO:0007292)|female pregnancy (GO:0007565)|follicle-stimulating hormone signaling pathway (GO:0042699)|peptide hormone processing (GO:0016486)|positive regulation of bone resorption (GO:0045780)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|progesterone biosynthetic process (GO:0006701)|regulation of osteoclast differentiation (GO:0045670)|Sertoli cell proliferation (GO:0060011)|signal transduction (GO:0007165)|transforming growth factor beta receptor signaling pathway (GO:0007179)	cytoplasm (GO:0005737)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)	hormone activity (GO:0005179)			haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	12						TACTGTGCGAGGCCTGGGGCC	0.507																																						ENST00000417547.1																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(3)|skin(1)	12						c.(346-348)Ggc>Agc		follicle stimulating hormone, beta polypeptide	Follitropin beta(DB00066)|Thyrotropin Alfa(DB00024)|Urofollitropin(DB00094)						76.0	66.0	69.0					11																	30255303		2202	4299	6501	SO:0001583	missense	2488				cellular nitrogen compound metabolic process|female gamete generation|female pregnancy|ovarian follicle development|peptide hormone processing|progesterone biosynthetic process|spermatogenesis|transforming growth factor beta receptor signaling pathway	cytoplasm|extracellular region|soluble fraction	follicle-stimulating hormone activity|protein heterodimerization activity	g.chr11:30255303G>A		CCDS7868.1	11p13	2013-02-26				ENSG00000131808		"""Endogenous ligands"""	3964	protein-coding gene	gene with protein product	"""follitropin, beta chain"", ""follicle-stimulating hormone beta subunit"""	136530				2885163, 3151250	Standard	NM_000510		Approved		uc001msm.3	P01225		ENST00000417547.1:c.346G>A	11.37:g.30255303G>A	ENSP00000416606:p.Gly116Ser					FSHB_ENST00000254122.3_Missense_Mutation_p.G116S|FSHB_ENST00000533718.1_Missense_Mutation_p.G116S	p.G116S	NM_001018080.1	NP_001018090.1	P01225	FSHB_HUMAN			3	385	+			116					A2TF08|A5JVV3|Q14D61	Missense_Mutation	SNP	ENST00000417547.1	37	c.346G>A	CCDS7868.1	.	.	.	.	.	.	.	.	.	.	G	16.00	2.999406	0.54147	.	.	ENSG00000131808	ENST00000254122;ENST00000417547;ENST00000533718	D;D;D	0.81579	-1.51;-1.51;-1.51	5.65	5.65	0.86999	Cystine knot (1);Gonadotropin, beta subunit, conserved site (1);	0.066940	0.64402	D	0.000004	T	0.78984	0.4370	L	0.31207	0.915	0.44587	D	0.997558	D	0.56287	0.975	P	0.62382	0.901	T	0.72293	-0.4336	10	0.02654	T	1	.	13.1248	0.59349	0.0721:0.0:0.9278:0.0	.	116	P01225	FSHB_HUMAN	S	116	ENSP00000254122:G116S;ENSP00000416606:G116S;ENSP00000433424:G116S	ENSP00000254122:G116S	G	+	1	0	FSHB	30211879	1.000000	0.71417	0.984000	0.44739	0.481000	0.33189	4.407000	0.59754	2.941000	0.99782	0.655000	0.94253	GGC		0.507	FSHB-003	KNOWN	alternative_5_UTR|not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000389757.1	NM_000510		7	37	0	0	0	1	0	7	37				
ROCK2	9475	broad.mit.edu	37	2	11332360	11332360	+	Silent	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:11332360G>A	ENST00000315872.6	-	32	4525	c.4077C>T	c.(4075-4077)gcC>gcT	p.A1359A	ROCK2_ENST00000401753.1_Silent_p.A1116A	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN	Rho-associated, coiled-coil containing protein kinase 2	1359					actin cytoskeleton organization (GO:0030036)|axon guidance (GO:0007411)|centrosome duplication (GO:0051298)|cytokinesis (GO:0000910)|extrinsic apoptotic signaling pathway via death domain receptors (GO:0008625)|intracellular signal transduction (GO:0035556)|negative regulation of angiogenesis (GO:0016525)|neural tube closure (GO:0001843)|positive regulation of centrosome duplication (GO:0010825)|protein phosphorylation (GO:0006468)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cell adhesion (GO:0030155)|regulation of cell motility (GO:2000145)|regulation of circadian rhythm (GO:0042752)|regulation of establishment of cell polarity (GO:2000114)|regulation of focal adhesion assembly (GO:0051893)|regulation of keratinocyte differentiation (GO:0045616)|regulation of stress fiber assembly (GO:0051492)|rhythmic process (GO:0048511)|smooth muscle contraction (GO:0006939)	centrosome (GO:0005813)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|spindle pole centrosome (GO:0031616)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|protein serine/threonine kinase activity (GO:0004674)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)		GAGATGATCGGGCAAAAGGGT	0.428																																						ENST00000315872.6																			0				breast(2)|central_nervous_system(1)|cervix(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(5)|large_intestine(6)|lung(10)|prostate(1)|skin(4)|stomach(3)|urinary_tract(2)	43						c.(4075-4077)gcC>gcT		Rho-associated, coiled-coil containing protein kinase 2							160.0	153.0	155.0					2																	11332360		1817	4073	5890	SO:0001819	synonymous_variant	9475				axon guidance|cytokinesis|intracellular signal transduction	cytosol|plasma membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity|structural molecule activity	g.chr2:11332360G>A	D87931	CCDS42654.1	2p24	2013-01-10			ENSG00000134318	ENSG00000134318	2.7.11.1	"""Pleckstrin homology (PH) domain containing"""	10252	protein-coding gene	gene with protein product		604002				9933571	Standard	NM_004850		Approved		uc002rbd.1	O75116	OTTHUMG00000149916	ENST00000315872.6:c.4077C>T	2.37:g.11332360G>A						ROCK2_ENST00000401753.1_Silent_p.A1116A	p.A1359A	NM_004850.3	NP_004841.2	O75116	ROCK2_HUMAN		Epithelial(75;0.137)|OV - Ovarian serous cystadenocarcinoma(76;0.162)	32	4525	-	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		1359					Q53QZ0|Q53SJ7|Q9UQN5	Silent	SNP	ENST00000315872.6	37	c.4077C>T	CCDS42654.1																																																																																				0.428	ROCK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313886.3			62	177	0	0	0	1	0	62	177				
PRR19	284338	broad.mit.edu	37	19	42813763	42813763	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:42813763G>T	ENST00000499536.2	+	1	838	c.27G>T	c.(25-27)caG>caT	p.Q9H	PRR19_ENST00000341747.3_Missense_Mutation_p.Q9H|PRR19_ENST00000598490.1_Missense_Mutation_p.Q9H			A6NJB7	PRR19_HUMAN	proline rich 19	9										NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	10		Prostate(69;0.00682)				CAGTCTCCCAGCCTTTTCAGC	0.567																																						ENST00000499536.2																			0				NS(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(2)|upper_aerodigestive_tract(1)	10						c.(25-27)caG>caT		proline rich 19							69.0	78.0	75.0					19																	42813763		2203	4300	6503	SO:0001583	missense	284338							g.chr19:42813763G>T	AK124116	CCDS33036.1	19q13.2	2007-12-17				ENSG00000188368			33728	protein-coding gene	gene with protein product							Standard	NM_199285		Approved	MGC70924	uc002oti.3	A6NJB7		ENST00000499536.2:c.27G>T	19.37:g.42813763G>T	ENSP00000445247:p.Gln9His					PRR19_ENST00000341747.3_Missense_Mutation_p.Q9H|PRR19_ENST00000598490.1_Missense_Mutation_p.Q9H	p.Q9H			A6NJB7	PRR19_HUMAN			1	838	+		Prostate(69;0.00682)	9					A8K663|B3KW48|Q6P584	Missense_Mutation	SNP	ENST00000499536.2	37	c.27G>T	CCDS33036.1	.	.	.	.	.	.	.	.	.	.	G	5.671	0.308476	0.10733	.	.	ENSG00000188368	ENST00000341747;ENST00000499536	.	.	.	3.96	0.493	0.16878	.	1.275860	0.05802	N	0.612469	T	0.30665	0.0772	L	0.27053	0.805	0.19300	N	0.99997	B;B	0.14012	0.009;0.009	B;B	0.12156	0.007;0.007	T	0.33292	-0.9874	9	0.66056	D	0.02	-1.8327	6.6814	0.23123	0.0931:0.0:0.6041:0.3028	.	9;9	A6NJB7;A6NJB7-2	PRR19_HUMAN;.	H	9	.	ENSP00000342709:Q9H	Q	+	3	2	PRR19	47505603	0.635000	0.27199	0.215000	0.23724	0.022000	0.10575	0.449000	0.21744	-0.014000	0.14175	-2.120000	0.00349	CAG		0.567	PRR19-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463735.1	NM_199285		49	64	1	0	3.21987e-24	1	3.96193e-24	49	64				
NCAPD3	23310	broad.mit.edu	37	11	134073581	134073581	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:134073581G>A	ENST00000534548.2	-	11	1500	c.1436C>T	c.(1435-1437)gCg>gTg	p.A479V		NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN	non-SMC condensin II complex, subunit D3	479					mitotic cell cycle (GO:0000278)|mitotic chromosome condensation (GO:0007076)	germinal vesicle (GO:0042585)|membrane (GO:0016020)|nuclear condensin complex (GO:0000799)|nuclear pericentric heterochromatin (GO:0031618)|nucleoplasm (GO:0005654)	methylated histone binding (GO:0035064)			NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)		ACTCTCCGACGCACTGGTAAC	0.488																																						ENST00000534548.2																			0				NS(1)|breast(3)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(5)|large_intestine(9)|liver(1)|lung(28)|ovary(3)|prostate(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(1435-1437)gCg>gTg		non-SMC condensin II complex, subunit D3							56.0	55.0	55.0					11																	134073581		2201	4297	6498	SO:0001583	missense	23310				cell division|mitotic chromosome condensation	nuclear centromeric heterochromatin|nuclear condensin complex	methylated histone residue binding	g.chr11:134073581G>A	AK124878	CCDS31723.1	11q25	2008-02-04			ENSG00000151503	ENSG00000151503			28952	protein-coding gene	gene with protein product		609276				7584044, 8619474, 14532007	Standard	NM_015261		Approved	hCAP-D3, CAP-D3, hHCP-6, KIAA0056, FLJ42888, hcp-6	uc001qhd.1	P42695	OTTHUMG00000167172	ENST00000534548.2:c.1436C>T	11.37:g.134073581G>A	ENSP00000433681:p.Ala479Val						p.A479V	NM_015261.2	NP_056076.1	P42695	CNDD3_HUMAN		Epithelial(10;8.74e-10)|BRCA - Breast invasive adenocarcinoma(10;1e-08)|all cancers(11;1.46e-08)|OV - Ovarian serous cystadenocarcinoma(99;0.00345)|Lung(977;0.227)	11	1500	-	all_hematologic(175;0.127)	all_cancers(12;1.68e-21)|all_epithelial(12;5.86e-16)|all_lung(97;1.19e-05)|Lung NSC(97;2.76e-05)|Breast(109;0.000182)|Medulloblastoma(222;0.0245)|all_neural(223;0.0505)|Esophageal squamous(93;0.0559)	479					A6NFS2|Q4KMQ9	Missense_Mutation	SNP	ENST00000534548.2	37	c.1436C>T	CCDS31723.1	.	.	.	.	.	.	.	.	.	.	G	12.45	1.940553	0.34283	.	.	ENSG00000151503	ENST00000534548	T	0.64085	-0.08	5.88	1.76	0.24704	Armadillo-type fold (1);	0.804755	0.11993	N	0.509659	T	0.43055	0.1230	N	0.25647	0.755	0.09310	N	1	B	0.19706	0.038	B	0.10450	0.005	T	0.21449	-1.0245	10	0.21014	T	0.42	-0.2167	6.5	0.22164	0.1925:0.0:0.5907:0.2168	.	479	P42695	CNDD3_HUMAN	V	479	ENSP00000433681:A479V	ENSP00000431612:A479V	A	-	2	0	NCAPD3	133578791	0.027000	0.19231	0.002000	0.10522	0.005000	0.04900	2.071000	0.41500	0.830000	0.34757	0.655000	0.94253	GCG		0.488	NCAPD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393575.2	NM_015261		11	35	0	0	0	1	0	11	35				
TACC3	10460	broad.mit.edu	37	4	1730164	1730164	+	Silent	SNP	C	C	T	rs142409115	byFrequency	TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr4:1730164C>T	ENST00000313288.4	+	4	1141	c.1035C>T	c.(1033-1035)ggC>ggT	p.G345G		NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	transforming, acidic coiled-coil containing protein 3	345					astral microtubule organization (GO:0030953)|cerebral cortex development (GO:0021987)|cytoplasmic sequestering of transcription factor (GO:0042994)|hemopoiesis (GO:0030097)|interkinetic nuclear migration (GO:0022027)|neurogenesis (GO:0022008)|regulation of cell cycle (GO:0051726)|regulation of microtubule-based process (GO:0032886)|response to hypoxia (GO:0001666)	centrosome (GO:0005813)|cytoplasm (GO:0005737)		p.G345G(1)		central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25		Breast(71;0.212)|all_epithelial(65;0.241)	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)			TATCTGATGGCGCCACCAGCA	0.592													C|||	19	0.00379393	0.0129	0.0	5008	,	,		18618	0.0		0.0	False		,,,				2504	0.002				Ovarian(120;482 2294 11894 35824)	ENST00000313288.4																			1	Substitution - coding silent(1)	p.G345G(1)	endometrium(1)	central_nervous_system(1)|endometrium(4)|large_intestine(1)|lung(10)|ovary(4)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(2)	25						c.(1033-1035)ggC>ggT		transforming, acidic coiled-coil containing protein 3		C		51,4355	51.6+/-87.1	0,51,2152	49.0	56.0	54.0		1035	-10.3	0.0	4	dbSNP_134	54	0,8600		0,0,4300	no	coding-synonymous	TACC3	NM_006342.1		0,51,6452	TT,TC,CC		0.0,1.1575,0.3921		345/839	1730164	51,12955	2203	4300	6503	SO:0001819	synonymous_variant	10460					centrosome		g.chr4:1730164C>T	AF093543	CCDS3352.1	4p16.3	2008-07-29			ENSG00000013810	ENSG00000013810			11524	protein-coding gene	gene with protein product		605303				17675670	Standard	NM_006342		Approved	ERIC1	uc003gdo.3	Q9Y6A5	OTTHUMG00000089535	ENST00000313288.4:c.1035C>T	4.37:g.1730164C>T							p.G345G	NM_006342.2	NP_006333.1	Q9Y6A5	TACC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(23;0.00765)|Epithelial(3;0.0126)		4	1141	+		Breast(71;0.212)|all_epithelial(65;0.241)	345					Q2NKK4|Q3KQS5|Q9UMQ1	Silent	SNP	ENST00000313288.4	37	c.1035C>T	CCDS3352.1	4	0.0018315018315018315	4	0.008130081300813009	0	0.0	0	0.0	0	0.0	C	6.235	0.411531	0.11812	0.011575	0.0	ENSG00000013810	ENST00000470136	.	.	.	5.16	-10.3	0.00346	.	.	.	.	.	T	0.16727	0.0402	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.13308	-1.0514	4	.	.	.	0.0147	7.2164	0.25961	0.0819:0.5388:0.1652:0.2141	.	.	.	.	C	12	.	.	R	+	1	0	TACC3	1699962	0.000000	0.05858	0.000000	0.03702	0.010000	0.07245	-3.573000	0.00426	-2.441000	0.00550	-0.218000	0.12543	CGC		0.592	TACC3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000203730.2			10	53	0	0	0	1	0	10	53				
MMP2	4313	broad.mit.edu	37	16	55519218	55519218	+	Silent	SNP	C	C	T	rs151071926	byFrequency	TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr16:55519218C>T	ENST00000219070.4	+	4	1046	c.537C>T	c.(535-537)ggC>ggT	p.G179G	MMP2_ENST00000570308.1_Silent_p.G103G|MMP2_ENST00000437642.2_Silent_p.G129G|MMP2_ENST00000543485.1_Silent_p.G103G	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN	matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	179	Collagenase-like 1.				angiogenesis (GO:0001525)|blood vessel maturation (GO:0001955)|bone trabecula formation (GO:0060346)|cellular protein metabolic process (GO:0044267)|cellular response to amino acid stimulus (GO:0071230)|collagen catabolic process (GO:0030574)|embryo implantation (GO:0007566)|endodermal cell differentiation (GO:0035987)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|face morphogenesis (GO:0060325)|intramembranous ossification (GO:0001957)|positive regulation of innate immune response (GO:0045089)|proteolysis (GO:0006508)|response to hypoxia (GO:0001666)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)|sarcomere (GO:0030017)	metalloendopeptidase activity (GO:0004222)|serine-type endopeptidase activity (GO:0004252)|zinc ion binding (GO:0008270)			NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	Captopril(DB01197)|Marimastat(DB00786)	CAGAGCATGGCGATGGATACC	0.567													c|||	3	0.000599042	0.0015	0.0	5008	,	,		22759	0.0		0.0	False		,,,				2504	0.001					ENST00000219070.4																			0				NS(1)|breast(3)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(12)|liver(2)|lung(23)|ovary(3)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	58						c.(535-537)ggC>ggT		matrix metallopeptidase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)	Marimastat(DB00786)|Sulindac(DB00605)		,	6,4390	11.4+/-27.6	0,6,2192	160.0	133.0	142.0		387,537	-2.8	0.8	16	dbSNP_134	142	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	MMP2	NM_001127891.1,NM_004530.4	,	0,6,6492	TT,TC,CC		0.0,0.1365,0.0462	,	129/611,179/661	55519218	6,12990	2198	4300	6498	SO:0001819	synonymous_variant	4313				angiogenesis|collagen catabolic process|proteolysis	extracellular space|membrane|nucleus|proteinaceous extracellular matrix	metalloendopeptidase activity|protein binding|zinc ion binding	g.chr16:55519218C>T		CCDS10752.1, CCDS45487.1	16q13-q21	2008-02-05	2005-08-08		ENSG00000087245	ENSG00000087245	3.4.24.24		7166	protein-coding gene	gene with protein product		120360	"""matrix metalloproteinase 2 (gelatinase A, 72kD gelatinase, 72kD type IV collagenase)"", ""matrix metalloproteinase 2 (gelatinase A, 72kDa gelatinase, 72kDa type IV collagenase)"""	CLG4, CLG4A			Standard	NM_004530		Approved	TBE-1	uc002ehz.4	P08253	OTTHUMG00000133202	ENST00000219070.4:c.537C>T	16.37:g.55519218C>T						MMP2_ENST00000437642.2_Silent_p.G129G|MMP2_ENST00000570308.1_Silent_p.G103G|MMP2_ENST00000543485.1_Silent_p.G103G	p.G179G	NM_004530.4	NP_004521.1	P08253	MMP2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (183;0.0185)|all cancers(182;7.16e-45)|Epithelial(162;5.26e-37)|GBM - Glioblastoma multiforme(240;9e-08)|Kidney(780;0.00227)|BRCA - Breast invasive adenocarcinoma(181;0.00786)	4	1046	+		Renal(780;0.00183)|Breast(268;0.00354)|Hepatocellular(780;0.00826)|all_neural(199;0.0189)	179			Collagenase-like 1.		B2R6U1|B4DWH3|E9PE45|Q9UCJ8	Silent	SNP	ENST00000219070.4	37	c.537C>T	CCDS10752.1																																																																																				0.567	MMP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256913.3			40	105	0	0	0	1	0	40	105				
HIST1H1C	3006	broad.mit.edu	37	6	26056117	26056117	+	Silent	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr6:26056117C>T	ENST00000343677.2	-	1	582	c.540G>A	c.(538-540)gcG>gcA	p.A180A		NM_005319.3	NP_005310.1	P16403	H12_HUMAN	histone cluster 1, H1c	180					nucleosome assembly (GO:0006334)|nucleosome positioning (GO:0016584)	nuclear euchromatin (GO:0005719)|nucleosome (GO:0000786)|nucleus (GO:0005634)	chromatin DNA binding (GO:0031490)|poly(A) RNA binding (GO:0044822)	p.A180A(2)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						TCTTGGGCTTCGCAACCTTGG	0.542																																						ENST00000343677.2																			2	Substitution - coding silent(2)	p.A180A(2)	NS(1)|lung(1)	NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(1)|large_intestine(1)|lung(8)|ovary(4)|prostate(3)|skin(3)|upper_aerodigestive_tract(3)	34						c.(538-540)gcG>gcA		histone cluster 1, H1c							97.0	106.0	103.0					6																	26056117		2203	4300	6503	SO:0001819	synonymous_variant	3006				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr6:26056117C>T	X57129	CCDS4577.1	6p21.3	2012-10-02	2006-10-11	2003-02-21	ENSG00000187837	ENSG00000187837		"""Histones / Replication-dependent"""	4716	protein-coding gene	gene with protein product		142710	"""H1 histone family, member 2"", ""histone 1, H1c"""	H1F2		2759094, 12408966	Standard	NM_005319		Approved	H1.2, H1s-1, H1c	uc003nfw.3	P16403	OTTHUMG00000016140	ENST00000343677.2:c.540G>A	6.37:g.26056117C>T							p.A180A	NM_005319.3	NP_005310.1	P16403	H12_HUMAN			1	582	-			180					A8K4I2	Silent	SNP	ENST00000343677.2	37	c.540G>A	CCDS4577.1																																																																																				0.542	HIST1H1C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043372.1	NM_005319		59	117	0	0	0	1	0	59	117				
NLRP14	338323	broad.mit.edu	37	11	7064059	7064059	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:7064059T>G	ENST00000299481.4	+	4	1148	c.802T>G	c.(802-804)Ttt>Gtt	p.F268V		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	268	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GAACTTTGCCTTTGAAGAACC	0.478																																						ENST00000299481.4																			0				breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21						c.(802-804)Ttt>Gtt		NLR family, pyrin domain containing 14							110.0	108.0	109.0					11																	7064059		2201	4296	6497	SO:0001583	missense	338323				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	g.chr11:7064059T>G	BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"""Nucleotide-binding domain and leucine rich repeat containing"""	22939	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"""	609665	"""NACHT, leucine rich repeat and PYD containing 14"""	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.802T>G	11.37:g.7064059T>G	ENSP00000299481:p.Phe268Val						p.F268V	NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN		Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)	4	1148	+			268			NACHT.		Q7RTR6	Missense_Mutation	SNP	ENST00000299481.4	37	c.802T>G	CCDS7776.1	.	.	.	.	.	.	.	.	.	.	T	16.68	3.190883	0.58017	.	.	ENSG00000158077	ENST00000299481	T	0.78246	-1.16	4.57	4.57	0.56435	NACHT nucleoside triphosphatase (1);	0.000000	0.47852	D	0.000207	T	0.81559	0.4848	L	0.52573	1.65	0.33295	D	0.564086	D	0.63880	0.993	D	0.63192	0.912	D	0.84869	0.0824	10	0.41790	T	0.15	.	10.5248	0.44941	0.0:0.0:0.0:1.0	.	268	Q86W24	NAL14_HUMAN	V	268	ENSP00000299481:F268V	ENSP00000299481:F268V	F	+	1	0	NLRP14	7020635	0.981000	0.34729	1.000000	0.80357	0.942000	0.58702	2.082000	0.41605	2.065000	0.61736	0.533000	0.62120	TTT		0.478	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822		4	102	0	0	0	1	0	4	102				
NAV2	89797	broad.mit.edu	37	11	19914110	19914110	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:19914110C>A	ENST00000396087.3	+	7	1069	c.970C>A	c.(970-972)Cca>Aca	p.P324T	NAV2_ENST00000360655.4_Missense_Mutation_p.P237T|NAV2_ENST00000396085.1_Missense_Mutation_p.P301T|NAV2_ENST00000527559.2_Missense_Mutation_p.P253T|NAV2_ENST00000540292.1_Missense_Mutation_p.P255T|NAV2_ENST00000349880.4_Missense_Mutation_p.P301T	NM_001244963.1	NP_001231892.1	Q8IVL1	NAV2_HUMAN	neuron navigator 2	324	Poly-Pro.				glossopharyngeal nerve development (GO:0021563)|locomotory behavior (GO:0007626)|optic nerve development (GO:0021554)|regulation of systemic arterial blood pressure by baroreceptor feedback (GO:0003025)|sensory perception of smell (GO:0007608)|sensory perception of sound (GO:0007605)|vagus nerve development (GO:0021564)	interstitial matrix (GO:0005614)|nucleus (GO:0005634)	ATP binding (GO:0005524)|helicase activity (GO:0004386)|heparin binding (GO:0008201)			NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						AGTCACCTCCCCACCCCCACC	0.527																																						ENST00000396085.1																			0				NS(1)|breast(2)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(2)|kidney(7)|large_intestine(26)|lung(38)|ovary(3)|pancreas(1)|prostate(7)|skin(5)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	116						c.(901-903)Cca>Aca		neuron navigator 2							83.0	71.0	75.0					11																	19914110		2199	4293	6492	SO:0001583	missense	89797					nucleus	ATP binding|helicase activity	g.chr11:19914110C>A	AB037840	CCDS7850.1, CCDS7851.2, CCDS44552.1, CCDS53612.1, CCDS58126.1	11p15.1	2008-07-18			ENSG00000166833	ENSG00000166833	3.6.1.1		15997	protein-coding gene	gene with protein product	"""pore membrane and/or filament interacting like protein 2"", ""retinoic acid inducible gene in neuroblastoma 1"", ""helicase, APC down-regulated 1"""	607026				12079279, 12062803	Standard	NM_145117		Approved	FLJ10633, FLJ11030, HELAD1, KIAA1419, POMFIL2, RAINB1, FLJ23707	uc010rdm.2	Q8IVL1	OTTHUMG00000151837	ENST00000396087.3:c.970C>A	11.37:g.19914110C>A	ENSP00000379396:p.Pro324Thr					NAV2_ENST00000360655.4_Missense_Mutation_p.P237T|NAV2_ENST00000527559.2_Missense_Mutation_p.P253T|NAV2_ENST00000349880.4_Missense_Mutation_p.P301T|NAV2_ENST00000396087.3_Missense_Mutation_p.P324T|NAV2_ENST00000540292.1_Missense_Mutation_p.P255T	p.P301T	NM_182964.5	NP_892009.3	Q8IVL1	NAV2_HUMAN			6	1262	+			324					A6NEC1|Q8IVK3|Q8IVK4|Q8IVK5|Q8IVK6|Q8IVK7|Q8IVK8|Q8NHC9|Q8NHD0|Q8TDE9|Q8TDF0|Q8TEB3|Q96B30|Q9NUZ6|Q9NVM7|Q9P2C8	Missense_Mutation	SNP	ENST00000396087.3	37	c.901C>A	CCDS58126.1	.	.	.	.	.	.	.	.	.	.	C	13.88	2.370503	0.42003	.	.	ENSG00000166833	ENST00000360655;ENST00000396085;ENST00000349880;ENST00000396087;ENST00000527559;ENST00000540292	T;T;T;T;T;T	0.26957	1.7;1.81;1.81;1.8;1.7;1.7	5.82	4.91	0.64330	.	0.215493	0.32769	N	0.005667	T	0.26304	0.0642	L	0.46157	1.445	0.80722	D	1	B;B	0.23249	0.082;0.043	B;B	0.31869	0.137;0.031	T	0.04333	-1.0959	9	.	.	.	.	13.0937	0.59180	0.0:0.9251:0.0:0.0749	.	301;237	Q8IVL1-3;Q8IVL1-4	.;.	T	237;301;301;324;253;255	ENSP00000353871:P237T;ENSP00000379394:P301T;ENSP00000309577:P301T;ENSP00000379396:P324T;ENSP00000435395:P253T;ENSP00000443489:P255T	.	P	+	1	0	NAV2	19870686	0.994000	0.37717	0.968000	0.41197	0.760000	0.43138	4.593000	0.61034	1.474000	0.48178	0.650000	0.86243	CCA		0.527	NAV2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000324112.1	NM_145117		18	39	1	0	5.35267e-07	1	5.72567e-07	18	39				
PYGM	5837	broad.mit.edu	37	11	64521785	64521785	+	Silent	SNP	G	G	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:64521785G>T	ENST00000164139.3	-	9	1430	c.1032C>A	c.(1030-1032)tcC>tcA	p.S344S	PYGM_ENST00000462303.1_5'Flank|PYGM_ENST00000377432.3_Silent_p.S256S	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN	phosphorylase, glycogen, muscle	344					carbohydrate metabolic process (GO:0005975)|glucose metabolic process (GO:0006006)|glycogen catabolic process (GO:0005980)|glycogen metabolic process (GO:0005977)|small molecule metabolic process (GO:0044281)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	glycogen phosphorylase activity (GO:0008184)|nucleotide binding (GO:0000166)|pyridoxal phosphate binding (GO:0030170)			cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						GGATGGCCAGGGAGGGGTGGG	0.622																																						ENST00000164139.3																			0				cervix(1)|endometrium(2)|kidney(3)|large_intestine(4)|lung(21)|ovary(3)|prostate(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	38						c.(1030-1032)tcC>tcA		phosphorylase, glycogen, muscle	Pyridoxal Phosphate(DB00114)						62.0	61.0	62.0					11																	64521785		2201	4297	6498	SO:0001819	synonymous_variant	5837				glucose metabolic process|glycogen catabolic process	cytosol	glycogen phosphorylase activity|protein binding	g.chr11:64521785G>T		CCDS8079.1, CCDS53659.1	11q12-q13.2	2013-03-01	2008-07-31		ENSG00000068976	ENSG00000068976	2.4.1.1	"""Glycogen phosphorylases"""	9726	protein-coding gene	gene with protein product	"""McArdle syndrome"", ""glycogen storage disease type V"", ""glycogen phosphorylase, muscle form"""	608455	"""phosphorylase, glycogen; muscle"""				Standard	NM_005609		Approved		uc001oax.4	P11217	OTTHUMG00000066835	ENST00000164139.3:c.1032C>A	11.37:g.64521785G>T						PYGM_ENST00000377432.3_Silent_p.S256S	p.S344S	NM_005609.2	NP_005600.1	P11217	PYGM_HUMAN			9	1430	-			344					A0AVK1|A6NDY6	Silent	SNP	ENST00000164139.3	37	c.1032C>A	CCDS8079.1																																																																																				0.622	PYGM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000143254.2	NM_005609		31	67	1	0	8.16721e-17	1	9.66217e-17	31	67				
TMC1	117531	broad.mit.edu	37	9	75435995	75435995	+	Silent	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr9:75435995C>T	ENST00000297784.5	+	20	2541	c.2001C>T	c.(1999-2001)ttC>ttT	p.F667F	TMC1_ENST00000396237.3_Silent_p.F667F|TMC1_ENST00000340019.3_Silent_p.F667F|TMC1_ENST00000486417.1_3'UTR	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN	transmembrane channel-like 1	667					auditory receptor cell development (GO:0060117)|detection of mechanical stimulus involved in sensory perception of sound (GO:0050910)|vestibular reflex (GO:0060005)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|stereocilium bundle tip (GO:0032426)	voltage-gated calcium channel activity (GO:0005245)			NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						GTGGTCCATTCAGGTCTCTTG	0.468																																					Pancreas(75;173 1345 14232 34245 43413)	ENST00000297784.5																			0				NS(1)|breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(4)|lung(21)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	36						c.(1999-2001)ttC>ttT		transmembrane channel-like 1							242.0	217.0	225.0					9																	75435995		2203	4300	6503	SO:0001819	synonymous_variant	117531				sensory perception of sound	integral to membrane		g.chr9:75435995C>T	AF417578	CCDS6643.1	9q21	2014-01-28			ENSG00000165091	ENSG00000165091			16513	protein-coding gene	gene with protein product		606706	"""transmembrane, cochlear expressed, 1"""	DFNA36, DFNB7, DFNB11		11850618, 11850623	Standard	NM_138691		Approved		uc004aiz.1	Q8TDI8	OTTHUMG00000020014	ENST00000297784.5:c.2001C>T	9.37:g.75435995C>T						TMC1_ENST00000396237.3_Silent_p.F667F|TMC1_ENST00000340019.3_Silent_p.F667F|TMC1_ENST00000486417.1_3'UTR	p.F667F	NM_138691.2	NP_619636.2	Q8TDI8	TMC1_HUMAN			20	2541	+			667					A8MVZ2|B1AM91	Silent	SNP	ENST00000297784.5	37	c.2001C>T	CCDS6643.1																																																																																				0.468	TMC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052655.1			50	129	0	0	0	1	0	50	129				
OR4A16	81327	broad.mit.edu	37	11	55111114	55111114	+	Silent	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:55111114C>A	ENST00000314721.2	+	1	488	c.438C>A	c.(436-438)gcC>gcA	p.A146A		NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN	olfactory receptor, family 4, subfamily A, member 16	146						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						TGGTGGTGGCCATGATTGGAG	0.463																																						ENST00000314721.2																			0				NS(1)|cervix(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(28)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	51						c.(436-438)gcC>gcA		olfactory receptor, family 4, subfamily A, member 16							183.0	165.0	171.0					11																	55111114		2201	4296	6497	SO:0001819	synonymous_variant	81327				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:55111114C>A	AB065519	CCDS31499.1	11q11	2012-08-09			ENSG00000181961	ENSG00000181961		"""GPCR / Class A : Olfactory receptors"""	15153	protein-coding gene	gene with protein product							Standard	NM_001005274		Approved	OR4A16Q	uc010rie.2	Q8NH70	OTTHUMG00000166710	ENST00000314721.2:c.438C>A	11.37:g.55111114C>A							p.A146A	NM_001005274.1	NP_001005274.1	Q8NH70	O4A16_HUMAN			1	488	+			146					Q6IFL3	Silent	SNP	ENST00000314721.2	37	c.438C>A	CCDS31499.1																																																																																				0.463	OR4A16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000391160.1	NM_001005274		25	74	1	0	8.24728e-16	1	9.64539e-16	25	74				
HINFP	25988	broad.mit.edu	37	11	119003380	119003380	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:119003380A>G	ENST00000350777.2	+	7	827	c.764A>G	c.(763-765)tAt>tGt	p.Y255C	HINFP_ENST00000527410.1_Missense_Mutation_p.Y255C	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN	histone H4 transcription factor	255					DNA damage checkpoint (GO:0000077)|DNA repair (GO:0006281)|establishment of protein localization (GO:0045184)|G1/S transition of mitotic cell cycle (GO:0000082)|in utero embryonic development (GO:0001701)|myoblast differentiation (GO:0045445)|negative regulation of gene expression (GO:0010629)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of gene expression (GO:0010628)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of gene expression (GO:0010468)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	Cajal body (GO:0015030)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)|enzyme binding (GO:0019899)|histone binding (GO:0042393)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						GTGAATCACTATAAGTGCCCT	0.572																																						ENST00000350777.2																			0				endometrium(2)|kidney(1)|large_intestine(4)|lung(7)|ovary(1)|pancreas(3)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(763-765)tAt>tGt		histone H4 transcription factor							166.0	152.0	157.0					11																	119003380		2200	4295	6495	SO:0001583	missense	25988				DNA damage checkpoint|DNA repair|establishment of protein localization|in utero embryonic development|myoblast differentiation|negative regulation of transcription, DNA-dependent|positive regulation of transcription, DNA-dependent|regulation of transcription involved in G1/S phase of mitotic cell cycle	Cajal body	enzyme binding|histone binding|sequence-specific DNA binding transcription factor activity|transcription coactivator activity|transcription regulatory region DNA binding|zinc ion binding	g.chr11:119003380A>G	AL080201	CCDS8414.1, CCDS58188.1	11q23.3	2013-01-08	2009-01-22	2009-01-22	ENSG00000172273	ENSG00000172273		"""Zinc fingers, C2H2-type"""	17850	protein-coding gene	gene with protein product	"""histone nuclear factor P"""	607099	"""MBD2-interacting zinc finger 1"", ""MBD2-interacting zinc finger"""	MIZF		11553631	Standard	NM_015517		Approved	DKFZP434F162, HiNF-P, ZNF743	uc001pvq.3	Q9BQA5	OTTHUMG00000166168	ENST00000350777.2:c.764A>G	11.37:g.119003380A>G	ENSP00000318085:p.Tyr255Cys					HINFP_ENST00000527410.1_Missense_Mutation_p.Y255C	p.Y255C	NM_001243259.1|NM_015517.4|NM_198971.2	NP_001230188.1|NP_056332.2|NP_945322.1	Q9BQA5	HINFP_HUMAN			7	827	+			255					B3KPH6|B4DWB4|E9PQF4|Q96E65|Q9Y4M7	Missense_Mutation	SNP	ENST00000350777.2	37	c.764A>G	CCDS8414.1	.	.	.	.	.	.	.	.	.	.	A	20.2	3.943207	0.73672	.	.	ENSG00000172273	ENST00000350777;ENST00000527410	T;T	0.61392	0.11;0.11	5.53	5.53	0.82687	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.000000	0.85682	D	0.000000	T	0.77811	0.4186	M	0.83692	2.655	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.81600	-0.0859	10	0.87932	D	0	-25.3742	14.8412	0.70226	1.0:0.0:0.0:0.0	.	255	Q9BQA5	HINFP_HUMAN	C	255	ENSP00000318085:Y255C;ENSP00000436815:Y255C	ENSP00000318085:Y255C	Y	+	2	0	HINFP	118508590	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	8.630000	0.90987	2.108000	0.64289	0.533000	0.62120	TAT		0.572	HINFP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000388201.2	NM_015517		73	123	0	0	0	1	0	73	123				
LOC151174	151174	broad.mit.edu	37	2	239141088	239141088	+	5'Flank	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:239141088C>T	ENST00000409070.1	-	0	0				AC016757.3_ENST00000470346.1_5'Flank|AC016757.3_ENST00000409376.1_5'Flank|AC016757.3_ENST00000334973.4_5'Flank|AC096574.4_ENST00000456601.1_RNA|AC016757.3_ENST00000409942.1_5'Flank																							GATCAGATTGCGCGGTCTCTT	0.493																																						ENST00000456601.1																			0																																																	SO:0001631	upstream_gene_variant	101927958							g.chr2:239141088C>T																													2.37:g.239141088C>T	Exception_encountered													0	764	+									RNA	SNP	ENST00000409070.1	37																																																																																						0.493	AC016757.3-006	PUTATIVE	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000328480.1			26	39	0	0	0	1	0	26	39				
VPS13B	157680	broad.mit.edu	37	8	100479781	100479781	+	Silent	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr8:100479781G>A	ENST00000358544.2	+	24	3696	c.3585G>A	c.(3583-3585)acG>acA	p.T1195T	VPS13B_ENST00000357162.2_Silent_p.T1195T|VPS13B_ENST00000395996.1_Silent_p.T1195T	NM_017890.4	NP_060360.3	Q7Z7G8	VP13B_HUMAN	vacuolar protein sorting 13 homolog B (yeast)	1195					protein transport (GO:0015031)			p.T1195T(2)		NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193	Breast(36;3.73e-07)		OV - Ovarian serous cystadenocarcinoma(57;0.00636)			TGCTTGCTACGGGACCTGATA	0.433																																					Colon(161;2205 2542 7338 31318)	ENST00000395996.1																			2	Substitution - coding silent(2)	p.T1195T(2)	lung(2)	NS(1)|autonomic_ganglia(1)|breast(6)|central_nervous_system(4)|cervix(3)|endometrium(11)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(37)|lung(78)|ovary(8)|pancreas(3)|prostate(5)|skin(9)|upper_aerodigestive_tract(4)|urinary_tract(9)	193						c.(3583-3585)acG>acA		vacuolar protein sorting 13 homolog B (yeast)							209.0	181.0	190.0					8																	100479781		2203	4300	6503	SO:0001819	synonymous_variant	157680				protein transport			g.chr8:100479781G>A	AJ608772	CCDS6280.1, CCDS6281.1, CCDS6283.1, CCDS47903.1	8q22-q23	2014-09-17	2006-12-19	2005-04-08	ENSG00000132549	ENSG00000132549			2183	protein-coding gene	gene with protein product		607817	"""Cohen syndrome 1"""	CHS1, COH1		7920642, 15498460	Standard	NM_181661		Approved		uc003yiv.4	Q7Z7G8	OTTHUMG00000140383	ENST00000358544.2:c.3585G>A	8.37:g.100479781G>A						VPS13B_ENST00000358544.2_Silent_p.T1195T|VPS13B_ENST00000357162.2_Silent_p.T1195T	p.T1195T			Q7Z7G8	VP13B_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.00636)		24	3696	+	Breast(36;3.73e-07)		1195					C9JD30|Q709C6|Q709C7|Q7Z7G4|Q7Z7G5|Q7Z7G6|Q7Z7G7|Q8NB77|Q9NWV1|Q9Y4E7	Silent	SNP	ENST00000358544.2	37	c.3585G>A	CCDS6280.1																																																																																				0.433	VPS13B-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000277138.1	NM_184042		43	93	0	0	0	1	0	43	93				
ABHD11	83451	broad.mit.edu	37	7	73151895	73151895	+	Missense_Mutation	SNP	C	C	A	rs567820396		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:73151895C>A	ENST00000222800.3	-	3	528	c.459G>T	c.(457-459)caG>caT	p.Q153H	ABHD11_ENST00000395147.4_Missense_Mutation_p.Q153H|ABHD11_ENST00000458339.1_Missense_Mutation_p.Q153H|ABHD11_ENST00000468998.1_5'Flank|ABHD11_ENST00000437775.2_Missense_Mutation_p.Q146H|LINC00035_ENST00000427153.1_RNA	NM_148912.2	NP_683710.1	Q8NFV4	ABHDB_HUMAN	abhydrolase domain containing 11	153						mitochondrion (GO:0005739)	hydrolase activity (GO:0016787)			breast(1)|endometrium(1)|large_intestine(1)|lung(1)	4		Lung NSC(55;0.0908)|all_lung(88;0.198)				GGCTCACCCTCTGTAGTGCCA	0.617																																						ENST00000222800.3																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(1)	4						c.(457-459)caG>caT		abhydrolase domain containing 11							34.0	30.0	31.0					7																	73151895		2203	4300	6503	SO:0001583	missense	83451						hydrolase activity	g.chr7:73151895C>A	AF217971	CCDS5558.1, CCDS47607.1, CCDS47608.1, CCDS75615.1	7q11.23	2010-08-05	2005-01-24	2005-01-27	ENSG00000106077	ENSG00000106077		"""Abhydrolase domain containing"""	16407	protein-coding gene	gene with protein product			"""Williams Beuren syndrome chromosome region 21"""	WBSCR21		12073013	Standard	NR_026910		Approved	PP1226	uc003tzb.3	Q8NFV4	OTTHUMG00000130029	ENST00000222800.3:c.459G>T	7.37:g.73151895C>A	ENSP00000222800:p.Gln153His					ABHD11_ENST00000437775.2_Missense_Mutation_p.Q146H|ABHD11_ENST00000458339.1_Missense_Mutation_p.Q153H|ABHD11_ENST00000395147.4_Missense_Mutation_p.Q153H	p.Q153H	NM_148912.2	NP_683710.1	Q8NFV4	ABHDB_HUMAN			3	528	-		Lung NSC(55;0.0908)|all_lung(88;0.198)	153					H7BYM8|Q6PJU0|Q8N722|Q8N723|Q8NFV2|Q8NFV3|Q9HBS8	Missense_Mutation	SNP	ENST00000222800.3	37	c.459G>T	CCDS5558.1	.	.	.	.	.	.	.	.	.	.	C	12.66	2.003717	0.35320	.	.	ENSG00000106077	ENST00000437775;ENST00000222800;ENST00000458339;ENST00000395147	T;T;T;T	0.66995	-0.24;-0.24;-0.24;-0.24	5.28	3.48	0.39840	Alpha/beta hydrolase fold-1 (1);	0.260060	0.39210	N	0.001423	T	0.65112	0.2660	L	0.49256	1.55	0.32331	N	0.561113	P;P;B	0.38788	0.647;0.616;0.295	P;B;B	0.46718	0.525;0.236;0.246	T	0.69555	-0.5114	10	0.45353	T	0.12	-16.6688	8.0917	0.30805	0.0:0.8132:0.0:0.1868	.	153;146;153	C9J7Q4;Q8NFV4-4;Q8NFV4	.;.;ABHDB_HUMAN	H	146;153;153;153	ENSP00000416970:Q146H;ENSP00000222800:Q153H;ENSP00000397666:Q153H;ENSP00000378579:Q153H	ENSP00000222800:Q153H	Q	-	3	2	ABHD11	72789831	1.000000	0.71417	0.997000	0.53966	0.827000	0.46813	1.295000	0.33377	0.621000	0.30232	-0.291000	0.09656	CAG		0.617	ABHD11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252306.1			4	16	1	0	0.00909568	1	0.00924627	4	16				
POTEF	728378	broad.mit.edu	37	2	130877830	130877830	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:130877830C>T	ENST00000409914.2	-	3	658	c.259G>A	c.(259-261)Gac>Aac	p.D87N	POTEF_ENST00000361163.4_Missense_Mutation_p.D87N|POTEF_ENST00000360967.5_Missense_Mutation_p.D87N|POTEF_ENST00000357462.5_Missense_Mutation_p.D87N	NM_001099771.2	NP_001093241.1	A5A3E0	POTEF_HUMAN	POTE ankyrin domain family, member F	87					retina homeostasis (GO:0001895)	blood microparticle (GO:0072562)|cytoplasm (GO:0005737)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						GCAGAGTCGTCGTGGTCTCCA	0.602																																						ENST00000357462.5																			0				breast(1)|cervix(1)|endometrium(6)|kidney(2)|large_intestine(4)|lung(28)|ovary(3)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	53						c.(259-261)Gac>Aac		POTE ankyrin domain family, member F							91.0	119.0	109.0					2																	130877830		2203	4294	6497	SO:0001583	missense	728378					cell cortex	ATP binding	g.chr2:130877830C>T	EF523384	CCDS46409.1	2q21.1	2013-01-10	2008-11-26	2008-11-26	ENSG00000196604	ENSG00000196604		"""POTE ankyrin domain containing"", ""Ankyrin repeat domain containing"""	33905	protein-coding gene	gene with protein product			"""ANKRD26-like family C, member 1B"""	A26C1B		17101985	Standard	NM_001099771		Approved	POTEACTIN, POTE2alpha	uc010fmh.2	A5A3E0	OTTHUMG00000153628	ENST00000409914.2:c.259G>A	2.37:g.130877830C>T	ENSP00000386786:p.Asp87Asn					POTEF_ENST00000360967.5_Missense_Mutation_p.D87N|POTEF_ENST00000409914.2_Missense_Mutation_p.D87N|POTEF_ENST00000361163.4_Missense_Mutation_p.D87N	p.D87N			A5A3E0	POTEF_HUMAN			1	352	-			87					A6NC34	Missense_Mutation	SNP	ENST00000409914.2	37	c.259G>A	CCDS46409.1	.	.	.	.	.	.	.	.	.	.	.	6.850	0.526176	0.13066	.	.	ENSG00000196604	ENST00000357462;ENST00000409914;ENST00000360967;ENST00000361163	T;T;T;T	0.78246	-1.16;-1.16;1.66;1.63	0.62	-0.532	0.11890	.	.	.	.	.	T	0.64148	0.2572	L	0.61218	1.895	0.09310	N	1	D	0.57571	0.98	B	0.32149	0.141	T	0.58255	-0.7668	8	0.87932	D	0	.	.	.	.	.	87	A5A3E0	POTEF_HUMAN	N	87	ENSP00000350052:D87N;ENSP00000386786:D87N;ENSP00000354232:D87N;ENSP00000355012:D87N	ENSP00000350052:D87N	D	-	1	0	POTEF	130594300	0.000000	0.05858	0.000000	0.03702	0.021000	0.10359	-0.245000	0.08890	-0.259000	0.09432	0.164000	0.16699	GAC		0.602	POTEF-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000331889.2	NM_001099771		10	391	0	0	0	1	0	10	391				
GRM8	2918	broad.mit.edu	37	7	126883110	126883110	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:126883110C>T	ENST00000339582.2	-	2	957	c.149G>A	c.(148-150)gGt>gAt	p.G50D	GRM8_ENST00000358373.3_Missense_Mutation_p.G50D|GRM8_ENST00000444921.2_Missense_Mutation_p.G50D|GRM8_ENST00000405249.1_Missense_Mutation_p.G50D			O00222	GRM8_HUMAN	glutamate receptor, metabotropic 8	50					adenylate cyclase-inhibiting G-protein coupled glutamate receptor signaling pathway (GO:0007196)|negative regulation of cAMP biosynthetic process (GO:0030818)|regulation of synaptic transmission, glutamatergic (GO:0051966)|sensory perception of smell (GO:0007608)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)|presynaptic membrane (GO:0042734)	G-protein coupled receptor activity (GO:0004930)|glutamate receptor activity (GO:0008066)|group III metabotropic glutamate receptor activity (GO:0001642)			breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125		Prostate(267;0.186)				AGGGAAGAGACCCCCCAAAAT	0.517										HNSCC(24;0.065)																												ENST00000339582.2																			0				breast(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|large_intestine(16)|lung(62)|ovary(5)|pancreas(1)|prostate(1)|skin(14)|stomach(1)|upper_aerodigestive_tract(6)|urinary_tract(4)	125						c.(148-150)gGt>gAt		glutamate receptor, metabotropic 8	L-Glutamic Acid(DB00142)						95.0	91.0	92.0					7																	126883110		2203	4300	6503	SO:0001583	missense	2918				negative regulation of cAMP biosynthetic process|sensory perception of smell|visual perception	integral to plasma membrane		g.chr7:126883110C>T		CCDS5794.1, CCDS47696.1	7q31.3-q32.1	2012-08-29			ENSG00000179603	ENSG00000179603		"""GPCR / Class C : Glutamate receptors, metabotropic"", ""Glutamate receptors"""	4600	protein-coding gene	gene with protein product		601116				8824806	Standard	NM_000845		Approved	GLUR8, GPRC1H, mGlu8, MGLUR8	uc003vlr.2	O00222	OTTHUMG00000022888	ENST00000339582.2:c.149G>A	7.37:g.126883110C>T	ENSP00000344173:p.Gly50Asp	HNSCC(24;0.065)				GRM8_ENST00000358373.3_Missense_Mutation_p.G50D|GRM8_ENST00000405249.1_Missense_Mutation_p.G50D|GRM8_ENST00000444921.2_Missense_Mutation_p.G50D	p.G50D			O00222	GRM8_HUMAN			2	957	-		Prostate(267;0.186)	50					A4D0Y3|B0FZ74|B0M0L0|O15493|O95945|O95946|Q3MIV9|Q52M02|Q6J165	Missense_Mutation	SNP	ENST00000339582.2	37	c.149G>A	CCDS5794.1	.	.	.	.	.	.	.	.	.	.	C	21.3	4.123734	0.77436	.	.	ENSG00000179603	ENST00000339582;ENST00000444921;ENST00000358373;ENST00000405249;ENST00000457830	D;D;D;D;D	0.83992	-1.79;-1.79;-1.79;-1.79;-1.79	6.17	6.17	0.99709	.	0.000000	0.85682	D	0.000000	D	0.92545	0.7632	M	0.84773	2.715	0.80722	D	1	D;D	0.89917	0.989;1.0	P;D	0.91635	0.848;0.999	D	0.92534	0.6036	10	0.87932	D	0	.	19.8676	0.96824	0.0:1.0:0.0:0.0	.	50;50	O00222-2;O00222	.;GRM8_HUMAN	D	50	ENSP00000344173:G50D;ENSP00000409790:G50D;ENSP00000351142:G50D;ENSP00000385731:G50D;ENSP00000415522:G50D	ENSP00000344173:G50D	G	-	2	0	GRM8	126670346	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	7.818000	0.86416	2.941000	0.99782	0.655000	0.94253	GGT		0.517	GRM8-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000059209.4			25	40	0	0	0	1	0	25	40				
MC2R	4158	broad.mit.edu	37	18	13884786	13884786	+	Silent	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr18:13884786G>A	ENST00000327606.3	-	2	912	c.732C>T	c.(730-732)ttC>ttT	p.F244F		NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN	melanocortin 2 receptor (adrenocorticotropic hormone)	244					G-protein coupled receptor signaling pathway (GO:0007186)|G-protein coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger (GO:0007187)|neuropeptide signaling pathway (GO:0007218)|placenta development (GO:0001890)|positive regulation of cAMP biosynthetic process (GO:0030819)	cytoplasm (GO:0005737)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	corticotropin receptor activity (GO:0004978)|melanocortin receptor activity (GO:0004977)			breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30					Corticotropin(DB01285)|Cosyntropin(DB01284)	TACTTGGGCAGAATGTCATCA	0.527																																					Colon(141;1584 1782 35999 48227 48692)	ENST00000327606.3																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(10)|lung(8)|ovary(4)|pancreas(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	30						c.(730-732)ttC>ttT		melanocortin 2 receptor (adrenocorticotropic hormone)	Corticotropin(DB01285)|Cosyntropin(DB01284)						82.0	75.0	77.0					18																	13884786		2203	4300	6503	SO:0001819	synonymous_variant	4158				G-protein signaling, coupled to cyclic nucleotide second messenger|positive regulation of cAMP biosynthetic process	integral to plasma membrane	corticotropin receptor activity|protein binding	g.chr18:13884786G>A		CCDS11869.1	18p11.2	2012-08-10			ENSG00000185231	ENSG00000185231		"""GPCR / Class A : Melanocortin receptors"""	6930	protein-coding gene	gene with protein product		607397				8390157	Standard	NM_001291911		Approved	ACTHR	uc002ksp.1	Q01718	OTTHUMG00000131721	ENST00000327606.3:c.732C>T	18.37:g.13884786G>A							p.F244F	NM_000529.2	NP_000520.1	Q01718	ACTHR_HUMAN			2	912	-			244					A8K016|Q3MI45|Q504X6	Silent	SNP	ENST00000327606.3	37	c.732C>T	CCDS11869.1																																																																																				0.527	MC2R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254639.2			23	65	0	0	0	1	0	23	65				
MPO	4353	broad.mit.edu	37	17	56349243	56349243	+	Silent	SNP	G	G	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:56349243G>T	ENST00000225275.3	-	11	1979	c.1803C>A	c.(1801-1803)gcC>gcA	p.A601A	MPO_ENST00000340482.3_Silent_p.A633A	NM_000250.1	NP_000241.1	P05164	PERM_HUMAN	myeloperoxidase	601					aging (GO:0007568)|defense response (GO:0006952)|defense response to fungus (GO:0050832)|hydrogen peroxide catabolic process (GO:0042744)|hypochlorous acid biosynthetic process (GO:0002149)|low-density lipoprotein particle remodeling (GO:0034374)|negative regulation of apoptotic process (GO:0043066)|negative regulation of growth of symbiont in host (GO:0044130)|oxidation-reduction process (GO:0055114)|removal of superoxide radicals (GO:0019430)|respiratory burst involved in defense response (GO:0002679)|response to food (GO:0032094)|response to lipopolysaccharide (GO:0032496)|response to mechanical stimulus (GO:0009612)|response to oxidative stress (GO:0006979)|response to yeast (GO:0001878)	azurophil granule (GO:0042582)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosome (GO:0005764)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|secretory granule (GO:0030141)	chromatin binding (GO:0003682)|heme binding (GO:0020037)|heparin binding (GO:0008201)|metal ion binding (GO:0046872)|peroxidase activity (GO:0004601)			breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46					Aminosalicylic Acid(DB00233)|Bivalirudin(DB00006)|Calcipotriol(DB02300)|Carboplatin(DB00958)|Cefaclor(DB00833)|Cefdinir(DB00535)|Cisplatin(DB00515)|Cysteamine(DB00847)|Dapsone(DB00250)|Enoxaparin(DB01225)|Human Serum Albumin(DB00062)|L-Carnitine(DB00583)|Melatonin(DB01065)|Mesalazine(DB00244)|Nabumetone(DB00461)|Octreotide(DB00104)|Oxaliplatin(DB00526)|Propylthiouracil(DB00550)|Ticlopidine(DB00208)|Tolmetin(DB00500)	AGCGCCTCCAGGCATTGTATC	0.582																																						ENST00000340482.3																			0				breast(4)|central_nervous_system(1)|endometrium(2)|kidney(2)|large_intestine(8)|liver(1)|lung(13)|ovary(2)|pancreas(1)|skin(4)|soft_tissue(1)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(4)	46						c.(1897-1899)gcC>gcA		myeloperoxidase	Cefdinir(DB00535)						67.0	63.0	64.0					17																	56349243		2203	4300	6503	SO:0001819	synonymous_variant	4353				anti-apoptosis|hydrogen peroxide catabolic process|low-density lipoprotein particle remodeling	extracellular space|lysosome|nucleus|stored secretory granule	chromatin binding|heme binding|heparin binding|peroxidase activity	g.chr17:56349243G>T		CCDS11604.1	17q21.3-q23	2014-09-17				ENSG00000005381	1.11.1.7		7218	protein-coding gene	gene with protein product		606989					Standard	NM_000250		Approved		uc002ivu.1	P05164		ENST00000225275.3:c.1803C>A	17.37:g.56349243G>T						MPO_ENST00000225275.3_Silent_p.A601A	p.A633A			P05164	PERM_HUMAN			10	2075	-			601					A1L4B8|Q14862|Q4PJH5|Q9UCL7	Silent	SNP	ENST00000225275.3	37	c.1899C>A	CCDS11604.1																																																																																				0.582	MPO-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000443971.1			37	87	1	0	1.96642e-18	1	2.34899e-18	37	87				
HERC2P3	283755	broad.mit.edu	37	15	20649625	20649625	+	RNA	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr15:20649625C>T	ENST00000428453.1	-	0	2573							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						TCCACCCGTCCTCTCCCAGCT	0.572																																						ENST00000428453.1																			0				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35															77.0	71.0	73.0					15																	20649625		2188	4266	6454			283755							g.chr15:20649625C>T	AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20649625C>T														0	2573	-									RNA	SNP	ENST00000428453.1	37																																																																																						0.572	HERC2P3-014	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347772.2	NG_008269		38	152	0	0	0	1	0	38	152				
ADAM32	203102	broad.mit.edu	37	8	39068690	39068690	+	Silent	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr8:39068690C>T	ENST00000379907.4	+	12	1207	c.1080C>T	c.(1078-1080)agC>agT	p.S360S	ADAM32_ENST00000437682.2_Intron|ADAM32_ENST00000519315.1_Intron	NM_145004.5	NP_659441	Q8TC27	ADA32_HUMAN	ADAM metallopeptidase domain 32	360	Peptidase M12B. {ECO:0000255|PROSITE- ProRule:PRU00276}.					integral component of membrane (GO:0016021)	metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)			AGACTTTTAGCAGTTGCAGTT	0.333																																						ENST00000379907.4																			0				breast(1)|endometrium(4)|kidney(2)|large_intestine(7)|lung(14)|ovary(1)|skin(2)	31						c.(1078-1080)agC>agT		ADAM metallopeptidase domain 32							104.0	102.0	103.0					8																	39068690		1817	4088	5905	SO:0001819	synonymous_variant	203102				proteolysis	integral to membrane	metalloendopeptidase activity|zinc ion binding	g.chr8:39068690C>T	BC026085	CCDS47846.1	8p11.22	2005-08-18	2005-08-18		ENSG00000197140	ENSG00000197140		"""ADAM metallopeptidase domain containing"""	15479	protein-coding gene	gene with protein product			"""a disintegrin and metalloproteinase domain 32"""			12568724	Standard	NM_145004		Approved		uc003xmt.4	Q8TC27	OTTHUMG00000164071	ENST00000379907.4:c.1080C>T	8.37:g.39068690C>T						ADAM32_ENST00000437682.2_Intron|ADAM32_ENST00000519315.1_Intron	p.S360S	NM_145004.5	NP_659441.3	Q8TC27	ADA32_HUMAN	LUSC - Lung squamous cell carcinoma(45;6.2e-07)|Colorectal(1;0.00699)|READ - Rectum adenocarcinoma(1;0.146)		12	1207	+		all_cancers(7;3e-05)|all_lung(54;0.00187)|Hepatocellular(245;0.00745)|Lung NSC(58;0.00771)|Breast(189;0.0503)	360			Peptidase M12B.		Q8TC42	Silent	SNP	ENST00000379907.4	37	c.1080C>T	CCDS47846.1																																																																																				0.333	ADAM32-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377089.1	NM_145004		12	22	0	0	0	1	0	12	22				
SPATA19	219938	broad.mit.edu	37	11	133715268	133715268	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:133715268C>T	ENST00000299140.3	-	1	128	c.74G>A	c.(73-75)aGt>aAt	p.S25N	SPATA19_ENST00000532889.1_Missense_Mutation_p.S25N	NM_174927.1	NP_777587.1	Q7Z5L4	SPT19_HUMAN	spermatogenesis associated 19	25					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)	mitochondrial outer membrane (GO:0005741)				cervix(1)|endometrium(2)|large_intestine(2)|lung(5)|prostate(1)	11	all_hematologic(175;0.127)	all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117)		Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207)		GCTTACCGAACTGGTTATTGG	0.423																																						ENST00000299140.3																			0				cervix(1)|endometrium(2)|large_intestine(2)|lung(5)|prostate(1)	11						c.(73-75)aGt>aAt		spermatogenesis associated 19							109.0	108.0	108.0					11																	133715268		2201	4297	6498	SO:0001583	missense	219938				cell differentiation|multicellular organismal development|spermatogenesis	mitochondrial outer membrane		g.chr11:133715268C>T	AK098717	CCDS8493.1	11q25	2010-04-23				ENSG00000166118			30614	protein-coding gene	gene with protein product	"""spergen 1"", ""cancer/testis antigen 132"""	609805				12477932	Standard	XM_005271448		Approved	FLJ25851, spergen1, SPAS1, CT132	uc001qgv.1	Q7Z5L4		ENST00000299140.3:c.74G>A	11.37:g.133715268C>T	ENSP00000299140:p.Ser25Asn					SPATA19_ENST00000532889.1_Missense_Mutation_p.S25N	p.S25N	NM_174927.1	NP_777587.1	Q7Z5L4	SPT19_HUMAN		Epithelial(10;4.36e-10)|all cancers(11;7.1e-09)|BRCA - Breast invasive adenocarcinoma(10;8.45e-09)|OV - Ovarian serous cystadenocarcinoma(99;0.00286)|Lung(977;0.207)	1	128	-	all_hematologic(175;0.127)	all_cancers(12;5.59e-17)|all_epithelial(12;2.65e-12)|all_lung(97;0.00045)|Lung NSC(97;0.000861)|Breast(109;0.000873)|Medulloblastoma(222;0.0425)|Esophageal squamous(93;0.0844)|all_neural(223;0.117)	25					Q8N7A9	Missense_Mutation	SNP	ENST00000299140.3	37	c.74G>A	CCDS8493.1	.	.	.	.	.	.	.	.	.	.	C	15.97	2.989536	0.53934	.	.	ENSG00000166118	ENST00000299140;ENST00000532889	T;T	0.47528	0.84;0.84	5.48	3.6	0.41247	.	0.261331	0.33572	N	0.004779	T	0.27765	0.0683	N	0.14661	0.345	0.24235	N	0.995382	B	0.13594	0.008	B	0.16289	0.015	T	0.14699	-1.0463	10	0.34782	T	0.22	-17.2629	7.9626	0.30081	0.0:0.8119:0.0:0.1881	.	25	Q7Z5L4	SPT19_HUMAN	N	25	ENSP00000299140:S25N;ENSP00000435248:S25N	ENSP00000299140:S25N	S	-	2	0	SPATA19	133220478	0.980000	0.34600	0.439000	0.26833	0.903000	0.53119	0.904000	0.28491	0.680000	0.31366	0.563000	0.77884	AGT		0.423	SPATA19-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000393281.1	NM_174927		20	43	0	0	0	1	0	20	43				
FANCI	55215	broad.mit.edu	37	15	89811661	89811661	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr15:89811661G>A	ENST00000310775.7	+	10	873	c.787G>A	c.(787-789)Gaa>Aaa	p.E263K	FANCI_ENST00000300027.8_Missense_Mutation_p.E263K	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	263					cell cycle (GO:0007049)|DNA repair (GO:0006281)|positive regulation of protein ubiquitination (GO:0031398)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA polymerase binding (GO:0070182)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					GCCATCAGGTGAACTTCGTCA	0.428								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia																													ENST00000310775.7																			0				breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(787-789)Gaa>Aaa	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group I							222.0	191.0	202.0					15																	89811661		2200	4299	6499	SO:0001583	missense	55215	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle|DNA repair	nucleoplasm	protein binding	g.chr15:89811661G>A	BC004277	CCDS10349.2, CCDS45346.1	15q26.1	2014-09-17	2007-05-03	2007-05-03	ENSG00000140525	ENSG00000140525		"""Fanconi anemia, complementation groups"""	25568	protein-coding gene	gene with protein product		611360	"""KIAA1794"""	KIAA1794		14630800, 17460694, 17412408	Standard	NM_001113378		Approved	FLJ10719	uc010bnp.1	Q9NVI1	OTTHUMG00000132993	ENST00000310775.7:c.787G>A	15.37:g.89811661G>A	ENSP00000310842:p.Glu263Lys					FANCI_ENST00000300027.8_Missense_Mutation_p.E263K	p.E263K	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN			10	873	+	Lung NSC(78;0.0472)|all_lung(78;0.089)		263					A4ZVE4|A5YMH4|A6NJZ0|Q96JN1|Q96ST0|Q9BT96	Missense_Mutation	SNP	ENST00000310775.7	37	c.787G>A	CCDS45346.1	.	.	.	.	.	.	.	.	.	.	G	19.62	3.860835	0.71834	.	.	ENSG00000140525	ENST00000300027;ENST00000310775;ENST00000447611	T;T;T	0.57436	0.4;0.4;0.4	4.68	4.68	0.58851	.	0.131843	0.51477	D	0.000089	T	0.59404	0.2191	L	0.59436	1.845	0.80722	D	1	P;P;P	0.46457	0.84;0.878;0.878	P;P;P	0.52909	0.713;0.546;0.546	T	0.57613	-0.7781	10	0.33940	T	0.23	-16.707	12.5738	0.56352	0.0:0.3192:0.6808:0.0	.	263;263;263	Q9NVI1;Q9NVI1-2;Q9NVI1-1	FANCI_HUMAN;.;.	K	263	ENSP00000300027:E263K;ENSP00000310842:E263K;ENSP00000413249:E263K	ENSP00000300027:E263K	E	+	1	0	FANCI	87612665	1.000000	0.71417	0.999000	0.59377	0.987000	0.75469	5.266000	0.65525	2.144000	0.66660	0.561000	0.74099	GAA		0.428	FANCI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421140.1	NM_018193		35	94	0	0	0	1	0	35	94				
PRPF4B	8899	broad.mit.edu	37	6	4049263	4049263	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr6:4049263G>A	ENST00000337659.6	+	8	2049	c.1949G>A	c.(1948-1950)cGg>cAg	p.R650Q	PRPF4B_ENST00000538861.1_Missense_Mutation_p.R636Q	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN	pre-mRNA processing factor 4B	650					mRNA splicing, via spliceosome (GO:0000398)|protein phosphorylation (GO:0006468)|RNA splicing (GO:0008380)	catalytic step 2 spliceosome (GO:0071013)|chromosome (GO:0005694)|nucleus (GO:0005634)	ATP binding (GO:0005524)|poly(A) RNA binding (GO:0044822)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.R139L(1)|p.R650L(1)		breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22	Ovarian(93;0.0925)	all_hematologic(90;0.0895)				GCTCGTCTTCGGGCCGCTGGC	0.408																																						ENST00000337659.6																			2	Substitution - Missense(2)	p.R139L(1)|p.R650L(1)	lung(2)	breast(6)|endometrium(3)|large_intestine(5)|lung(4)|upper_aerodigestive_tract(3)|urinary_tract(1)	22						c.(1948-1950)cGg>cAg		pre-mRNA processing factor 4B							73.0	72.0	72.0					6																	4049263		2203	4300	6503	SO:0001583	missense	8899					catalytic step 2 spliceosome	ATP binding|protein binding|protein serine/threonine kinase activity	g.chr6:4049263G>A	U48736	CCDS4488.1	6p24.2	2013-10-03	2013-10-03		ENSG00000112739	ENSG00000112739			17346	protein-coding gene	gene with protein product		602338	"""PRP4 pre-mRNA processing factor 4 homolog B (yeast)"""			9628581, 11418604	Standard	XR_241936		Approved	Prp4, PR4H, KIAA0536	uc003mvv.3	Q13523	OTTHUMG00000014157	ENST00000337659.6:c.1949G>A	6.37:g.4049263G>A	ENSP00000337194:p.Arg650Gln					PRPF4B_ENST00000538861.1_Missense_Mutation_p.R636Q	p.R650Q	NM_003913.4	NP_003904.3	Q13523	PRP4B_HUMAN			8	2049	+	Ovarian(93;0.0925)	all_hematologic(90;0.0895)	650					A8K5C9|Q5D0F6|Q5TAY8|Q8IVC3|Q8TDP2|Q96QT7|Q9UEE6	Missense_Mutation	SNP	ENST00000337659.6	37	c.1949G>A	CCDS4488.1	.	.	.	.	.	.	.	.	.	.	G	17.82	3.482567	0.63962	.	.	ENSG00000112739	ENST00000337659;ENST00000538861	T;T	0.68479	-0.32;-0.33	5.73	5.73	0.89815	.	0.000000	0.64402	D	0.000008	T	0.68421	0.2999	L	0.41573	1.285	0.80722	D	1	D	0.69078	0.997	D	0.70227	0.968	T	0.60632	-0.7225	10	0.17832	T	0.49	.	19.8928	0.96935	0.0:0.0:1.0:0.0	.	650	Q13523	PRP4B_HUMAN	Q	650;636	ENSP00000337194:R650Q;ENSP00000439331:R636Q	ENSP00000337194:R650Q	R	+	2	0	PRPF4B	3994262	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	9.476000	0.97823	2.713000	0.92767	0.591000	0.81541	CGG		0.408	PRPF4B-011	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000314018.2			15	26	0	0	0	1	0	15	26				
SIGLEC9	27180	broad.mit.edu	37	19	51629383	51629383	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:51629383C>G	ENST00000250360.3	+	3	813	c.746C>G	c.(745-747)aCa>aGa	p.T249R	SIGLEC9_ENST00000440804.3_Missense_Mutation_p.T249R	NM_014441.2	NP_055256.1	Q9Y336	SIGL9_HUMAN	sialic acid binding Ig-like lectin 9	249	Ig-like C2-type 2.				cell adhesion (GO:0007155)|cell surface receptor signaling pathway (GO:0007166)	integral component of plasma membrane (GO:0005887)	carbohydrate binding (GO:0030246)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45		all_neural(266;0.0529)		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)		GGAGACGGCACAGGTAGGATG	0.597																																						ENST00000440804.3																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(6)|liver(3)|lung(25)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	45						c.(745-747)aCa>aGa		sialic acid binding Ig-like lectin 9							102.0	89.0	93.0					19																	51629383		2203	4300	6503	SO:0001583	missense	27180				cell adhesion|cell surface receptor linked signaling pathway	integral to plasma membrane	sugar binding	g.chr19:51629383C>G	AF135027	CCDS12825.1, CCDS56100.1	19q13.3-q13.4	2013-01-29			ENSG00000129450	ENSG00000129450		"""Sialic acid binding Ig-like lectins"", ""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	10878	protein-coding gene	gene with protein product		605640				10903842	Standard	NM_014441		Approved	CD329	uc002pvu.3	Q9Y336		ENST00000250360.3:c.746C>G	19.37:g.51629383C>G	ENSP00000250360:p.Thr249Arg					SIGLEC9_ENST00000250360.3_Missense_Mutation_p.T249R	p.T249R	NM_001198558.1	NP_001185487.1	Q9Y336	SIGL9_HUMAN		GBM - Glioblastoma multiforme(134;0.000826)|OV - Ovarian serous cystadenocarcinoma(262;0.00295)	3	813	+		all_neural(266;0.0529)	249			Ig-like C2-type 2.		Q6GTU4|Q9BYI9	Missense_Mutation	SNP	ENST00000250360.3	37	c.746C>G	CCDS12825.1	.	.	.	.	.	.	.	.	.	.	.	14.57	2.574879	0.45902	.	.	ENSG00000129450	ENST00000440804;ENST00000250360	T;T	0.13538	2.58;2.79	3.02	1.97	0.26223	Immunoglobulin-like (1);	0.807430	0.10126	N	0.712774	T	0.28001	0.0690	M	0.85041	2.73	0.25417	N	0.988304	D	0.55172	0.97	P	0.51297	0.665	T	0.13229	-1.0517	10	0.66056	D	0.02	.	5.954	0.19263	0.0:0.8478:0.0:0.1522	.	249	Q9Y336	SIGL9_HUMAN	R	249	ENSP00000413861:T249R;ENSP00000250360:T249R	ENSP00000250360:T249R	T	+	2	0	SIGLEC9	56321195	0.731000	0.28111	0.642000	0.29436	0.198000	0.23893	0.961000	0.29267	0.460000	0.27045	0.514000	0.50259	ACA		0.597	SIGLEC9-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000464224.1	NM_014441		14	81	0	0	0	1	0	14	81				
MTHFD1L	25902	broad.mit.edu	37	6	151265717	151265717	+	Silent	SNP	G	G	A	rs186295565		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr6:151265717G>A	ENST00000367321.3	+	14	1810	c.1536G>A	c.(1534-1536)acG>acA	p.T512T		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	512	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)		ATGAAAACACGCAAACAGATA	0.468													G|||	1	0.000199681	0.0	0.0014	5008	,	,		18867	0.0		0.0	False		,,,				2504	0.0					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.(1534-1536)acG>acA		methylenetetrahydrofolate dehydrogenase (NADP+ dependent) 1-like							53.0	49.0	50.0					6																	151265717		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.chr6:151265717G>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.1536G>A	6.37:g.151265717G>A							p.T512T	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)	14	1810	+		Ovarian(120;0.128)	512			Formyltetrahydrofolate synthetase.		Q2TBF3|Q8WVW0|Q96HG8|Q9H789|Q9UFU8	Silent	SNP	ENST00000367321.3	37	c.1536G>A	CCDS5228.1																																																																																				0.468	MTHFD1L-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042699.1	NM_015440		5	15	0	0	0	1	0	5	15				
WDFY3	23001	broad.mit.edu	37	4	85664916	85664916	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr4:85664916C>T	ENST00000295888.4	-	37	6417	c.6010G>A	c.(6010-6012)Gaa>Aaa	p.E2004K	WDFY3_ENST00000322366.6_Missense_Mutation_p.E2004K	NM_014991.4	NP_055806.2	Q8IZQ1	WDFY3_HUMAN	WD repeat and FYVE domain containing 3	2004					aggrephagy (GO:0035973)|positive regulation of macroautophagy (GO:0016239)	autophagic vacuole (GO:0005776)|cytoplasm (GO:0005737)|extrinsic component of membrane (GO:0019898)|inclusion body (GO:0016234)|nuclear envelope (GO:0005635)|PML body (GO:0016605)	1-phosphatidylinositol binding (GO:0005545)|beta-N-acetylglucosaminylglycopeptide beta-1,4-galactosyltransferase activity (GO:0003831)|metal ion binding (GO:0046872)			breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;0.000808)		GTTTGAAATTCTTTTTGCTGA	0.323																																						ENST00000322366.6																			0				breast(5)|central_nervous_system(5)|endometrium(15)|haematopoietic_and_lymphoid_tissue(3)|kidney(8)|large_intestine(32)|lung(50)|ovary(3)|prostate(5)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(6010-6012)Gaa>Aaa		WD repeat and FYVE domain containing 3							95.0	95.0	95.0					4																	85664916		2203	4300	6503	SO:0001583	missense	23001					cytoplasmic part|extrinsic to membrane|nuclear envelope	1-phosphatidylinositol binding|metal ion binding|protein binding	g.chr4:85664916C>T	AB023210	CCDS3609.1	4q21.3	2013-01-09			ENSG00000163625	ENSG00000163625		"""Zinc fingers, FYVE domain containing"", ""WD repeat domain containing"""	20751	protein-coding gene	gene with protein product						10231032	Standard	NM_014991		Approved	KIAA0993, ALFY, ZFYVE25	uc003hpd.3	Q8IZQ1	OTTHUMG00000130424	ENST00000295888.4:c.6010G>A	4.37:g.85664916C>T	ENSP00000295888:p.Glu2004Lys					WDFY3_ENST00000295888.4_Missense_Mutation_p.E2004K	p.E2004K			Q8IZQ1	WDFY3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.000808)	37	6417	-		Hepatocellular(203;0.114)	2004					Q4W5K5|Q6P0Q5|Q8N1T2|Q8NAV6|Q96BS7|Q96D33|Q96N85|Q9Y2J7	Missense_Mutation	SNP	ENST00000295888.4	37	c.6010G>A	CCDS3609.1	.	.	.	.	.	.	.	.	.	.	C	21.0	4.085604	0.76642	.	.	ENSG00000163625	ENST00000322366;ENST00000295888	T;T	0.64085	-0.08;-0.08	5.35	5.35	0.76521	.	0.000000	0.85682	D	0.000000	T	0.51227	0.1662	L	0.40543	1.245	0.80722	D	1	B	0.27882	0.192	B	0.20184	0.028	T	0.51204	-0.8735	10	0.06494	T	0.89	.	19.4376	0.94804	0.0:1.0:0.0:0.0	.	2004	Q8IZQ1	WDFY3_HUMAN	K	2004	ENSP00000318466:E2004K;ENSP00000295888:E2004K	ENSP00000295888:E2004K	E	-	1	0	WDFY3	85883940	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	7.194000	0.77789	2.660000	0.90430	0.467000	0.42956	GAA		0.323	WDFY3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252811.2	NM_014991		22	62	0	0	0	1	0	22	62				
FAM91A1	157769	broad.mit.edu	37	8	124790324	124790324	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr8:124790324T>C	ENST00000334705.7	+	5	673	c.427T>C	c.(427-429)Tca>Cca	p.S143P	FAM91A1_ENST00000521166.1_Missense_Mutation_p.S143P	NM_144963.2	NP_659400	Q658Y4	F91A1_HUMAN	family with sequence similarity 91, member A1	143										breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		STAD - Stomach adenocarcinoma(47;0.00192)			TCAGTGTAGATCATCAAAAGT	0.299																																						ENST00000334705.7																			0				breast(4)|central_nervous_system(3)|endometrium(6)|kidney(2)|large_intestine(3)|lung(6)|ovary(1)|pancreas(1)|prostate(1)|skin(1)	28						c.(427-429)Tca>Cca		family with sequence similarity 91, member A1							138.0	127.0	131.0					8																	124790324		1838	4075	5913	SO:0001583	missense	157769							g.chr8:124790324T>C	AK074370	CCDS6346.2	8q24.13	2005-10-04			ENSG00000176853	ENSG00000176853			26306	protein-coding gene	gene with protein product						12477932	Standard	XM_005250806		Approved	FLJ23790	uc003yqv.3	Q658Y4	OTTHUMG00000133021	ENST00000334705.7:c.427T>C	8.37:g.124790324T>C	ENSP00000335082:p.Ser143Pro					FAM91A1_ENST00000521166.1_Missense_Mutation_p.S143P	p.S143P	NM_144963.2	NP_659400.2	Q658Y4	F91A1_HUMAN	STAD - Stomach adenocarcinoma(47;0.00192)		5	673	+	Lung NSC(37;8.76e-13)|Ovarian(258;0.00744)|all_neural(195;0.0741)		143					B6YY23|Q658T5|Q8TE89	Missense_Mutation	SNP	ENST00000334705.7	37	c.427T>C	CCDS6346.2	.	.	.	.	.	.	.	.	.	.	T	21.8	4.198112	0.79015	.	.	ENSG00000176853	ENST00000521166;ENST00000334705	T;T	0.59772	0.24;0.8	5.41	5.41	0.78517	.	0.154599	0.45361	U	0.000376	T	0.75686	0.3883	M	0.85859	2.78	0.58432	D	0.999999	D;D	0.69078	0.997;0.997	P;P	0.61800	0.894;0.894	T	0.80446	-0.1379	10	0.72032	D	0.01	.	14.0056	0.64461	0.0:0.0:0.0:1.0	.	143;143	E7ER68;Q658Y4	.;F91A1_HUMAN	P	143	ENSP00000429491:S143P;ENSP00000335082:S143P	ENSP00000335082:S143P	S	+	1	0	FAM91A1	124859505	1.000000	0.71417	0.999000	0.59377	0.843000	0.47879	5.883000	0.69721	2.057000	0.61298	0.460000	0.39030	TCA		0.299	FAM91A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256607.1	NM_144963		11	21	0	0	0	1	0	11	21				
MLXIPL	51085	broad.mit.edu	37	7	73011953	73011953	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:73011953G>A	ENST00000313375.3	-	9	1209	c.1162C>T	c.(1162-1164)Ccc>Tcc	p.P388S	MLXIPL_ENST00000354613.1_Missense_Mutation_p.P388S|MLXIPL_ENST00000429400.2_Missense_Mutation_p.P388S|MLXIPL_ENST00000414749.2_Missense_Mutation_p.P388S|MLXIPL_ENST00000395189.1_Missense_Mutation_p.P295S|MLXIPL_ENST00000434326.1_Missense_Mutation_p.P295S	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	MLXPL_HUMAN	MLX interacting protein-like	388	Poly-Pro.				anatomical structure morphogenesis (GO:0009653)|energy reserve metabolic process (GO:0006112)|fatty acid homeostasis (GO:0055089)|glucose homeostasis (GO:0042593)|glucose mediated signaling pathway (GO:0010255)|intracellular signal transduction (GO:0035556)|negative regulation of cell cycle arrest (GO:0071157)|negative regulation of oxidative phosphorylation (GO:0090324)|negative regulation of peptidyl-serine phosphorylation (GO:0033137)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of cellular metabolic process (GO:0031325)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of glycolytic process (GO:0045821)|positive regulation of lipid biosynthetic process (GO:0046889)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of energy homeostasis (GO:2000505)|regulation of fatty acid biosynthetic process (GO:0042304)|regulation of transcription, DNA-templated (GO:0006355)|small molecule metabolic process (GO:0044281)|transcription, DNA-templated (GO:0006351)|triglyceride homeostasis (GO:0070328)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	carbohydrate response element binding (GO:0035538)|DNA binding (GO:0003677)|protein heterodimerization activity (GO:0046982)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription factor binding (GO:0008134)			cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13		Lung NSC(55;0.0659)|all_lung(88;0.152)				ACAGGAGGGGGTGGGAGCCGG	0.672																																						ENST00000313375.3																			0				cervix(1)|kidney(1)|large_intestine(1)|lung(5)|ovary(1)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	13						c.(1162-1164)Ccc>Tcc		MLX interacting protein-like							6.0	8.0	8.0					7																	73011953		1893	3743	5636	SO:0001583	missense	51085				anatomical structure morphogenesis|energy reserve metabolic process|glucose mediated signaling pathway|intracellular protein kinase cascade|negative regulation of cell cycle arrest|negative regulation of oxidative phosphorylation|negative regulation of peptidyl-serine phosphorylation|positive regulation of cell proliferation|positive regulation of fatty acid biosynthetic process|positive regulation of glycolysis|positive regulation of transcription from RNA polymerase II promoter|triglyceride homeostasis	cytosol|transcription factor complex	carbohydrate response element binding|protein heterodimerization activity|sequence-specific DNA binding transcription factor activity|transcription factor binding	g.chr7:73011953G>A	AK055029	CCDS5553.1, CCDS5554.1, CCDS47605.1, CCDS47606.1	7q11.23	2013-05-21	2005-10-31	2005-10-31	ENSG00000009950	ENSG00000009950			12744	protein-coding gene	gene with protein product	"""carbohydrate response element binding protein"""	605678	"""Williams Beuren syndrome chromosome region 14"""	WBSCR14		9860302	Standard	XM_005250399		Approved	WS-bHLH, MIO, CHREBP, MONDOB, bHLHd14	uc003tyn.1	Q9NP71	OTTHUMG00000129995	ENST00000313375.3:c.1162C>T	7.37:g.73011953G>A	ENSP00000320886:p.Pro388Ser					MLXIPL_ENST00000429400.2_Missense_Mutation_p.P388S|MLXIPL_ENST00000434326.1_Missense_Mutation_p.P295S|MLXIPL_ENST00000354613.1_Missense_Mutation_p.P388S|MLXIPL_ENST00000414749.2_Missense_Mutation_p.P388S|MLXIPL_ENST00000395189.1_Missense_Mutation_p.P295S	p.P388S	NM_032951.2|NM_032953.2	NP_116569.1|NP_116571.1	Q9NP71	WBS14_HUMAN			9	1209	-		Lung NSC(55;0.0659)|all_lung(88;0.152)	388			Poly-Pro.		C5HU02|C5HU03|C5HU04|Q96E48|Q9BY03|Q9BY04|Q9BY05|Q9BY06|Q9Y2P3	Missense_Mutation	SNP	ENST00000313375.3	37	c.1162C>T	CCDS5553.1	.	.	.	.	.	.	.	.	.	.	g	8.304	0.820657	0.16678	.	.	ENSG00000009950	ENST00000414749;ENST00000429400;ENST00000313375;ENST00000354613;ENST00000395189;ENST00000434326	T;T;T;T;T;T	0.26660	2.5;2.51;2.5;2.5;1.72;1.8	3.41	0.405	0.16361	.	1.965940	0.02554	N	0.095925	T	0.22704	0.0548	L	0.44542	1.39	0.09310	N	1	B;B;B;B;B;B	0.18013	0.025;0.005;0.003;0.005;0.005;0.005	B;B;B;B;B;B	0.13407	0.009;0.006;0.002;0.006;0.006;0.006	T	0.24512	-1.0158	10	0.59425	D	0.04	-5.3007	3.6097	0.08055	0.1018:0.1653:0.5628:0.1701	.	295;295;388;388;388;388	C5HU01;Q9NP71-6;Q9NP71;Q9NP71-2;Q9NP71-3;Q9NP71-4	.;.;MLXPL_HUMAN;.;.;.	S	388;388;388;388;295;295	ENSP00000412330:P388S;ENSP00000406296:P388S;ENSP00000320886:P388S;ENSP00000346629:P388S;ENSP00000378616:P295S;ENSP00000392636:P295S	ENSP00000320886:P388S	P	-	1	0	MLXIPL	72649889	0.005000	0.15991	0.300000	0.25030	0.181000	0.23173	1.007000	0.29860	-0.043000	0.13513	-0.487000	0.04747	CCC		0.672	MLXIPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000252262.1	NM_032951		10	12	0	0	0	1	0	10	12				
MATN2	4147	broad.mit.edu	37	8	98900392	98900392	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr8:98900392G>A	ENST00000520016.1	+	1	188	c.64G>A	c.(64-66)Gag>Aag	p.E22K	MATN2_ENST00000522025.2_Intron|MATN2_ENST00000524308.1_Missense_Mutation_p.E22K|MATN2_ENST00000254898.5_Missense_Mutation_p.E22K|MATN2_ENST00000521689.1_Missense_Mutation_p.E22K			O00339	MATN2_HUMAN	matrilin 2	22						proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)	p.E22K(2)		breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31	Breast(36;1.43e-06)		OV - Ovarian serous cystadenocarcinoma(57;0.244)			CCTCCCTGCCGAGGCCAGGGA	0.627																																						ENST00000254898.5																			2	Substitution - Missense(2)	p.E22K(2)	breast(2)	breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(17)|ovary(2)|urinary_tract(1)	31						c.(64-66)Gag>Aag		matrilin 2							33.0	34.0	33.0					8																	98900392		1972	4171	6143	SO:0001583	missense	4147					proteinaceous extracellular matrix	calcium ion binding	g.chr8:98900392G>A	U69263	CCDS55264.1, CCDS55265.1	8q22.1-q22.2	2008-05-15							6908	protein-coding gene	gene with protein product		602108				9083061, 11852232	Standard	XM_005250920		Approved		uc003yic.3	O00339		ENST00000520016.1:c.64G>A	8.37:g.98900392G>A	ENSP00000430487:p.Glu22Lys					MATN2_ENST00000521689.1_Missense_Mutation_p.E22K|MATN2_ENST00000520016.1_Missense_Mutation_p.E22K|MATN2_ENST00000524308.1_Missense_Mutation_p.E22K|MATN2_ENST00000522025.2_Intron	p.E22K	NM_002380.3|NM_030583.2	NP_002371.3|NP_085072.2	O00339	MATN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;0.244)		2	295	+	Breast(36;1.43e-06)		22					A8K106|E7EW74|E9PD48|E9PGL2|Q6UWA5|Q7Z5X1|Q8NDE6|Q96FT5|Q9NSZ1	Missense_Mutation	SNP	ENST00000520016.1	37	c.64G>A	CCDS55264.1	.	.	.	.	.	.	.	.	.	.	G	11.71	1.719276	0.30503	.	.	ENSG00000132561	ENST00000521689;ENST00000254898;ENST00000378716;ENST00000524308;ENST00000520016	D;T;D;T	0.82711	-1.61;-0.76;-1.64;-0.73	5.02	5.02	0.67125	.	0.506948	0.16665	N	0.204624	T	0.62829	0.2460	N	0.08118	0	0.09310	N	1	P;B;B	0.35433	0.501;0.185;0.185	B;B;B	0.22152	0.038;0.012;0.012	T	0.52056	-0.8626	10	0.16896	T	0.51	-4.3846	13.7179	0.62710	0.0:0.0:1.0:0.0	.	22;22;22	O00339-2;O00339;Q8N2G3	.;MATN2_HUMAN;.	K	22	ENSP00000429977:E22K;ENSP00000254898:E22K;ENSP00000430221:E22K;ENSP00000430487:E22K	ENSP00000254898:E22K	E	+	1	0	MATN2	98969568	0.534000	0.26362	0.038000	0.18304	0.010000	0.07245	1.735000	0.38176	2.602000	0.87976	0.655000	0.94253	GAG		0.627	MATN2-004	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000380332.1			15	22	0	0	0	1	0	15	22				
BHMT	635	broad.mit.edu	37	5	78426800	78426800	+	Missense_Mutation	SNP	G	G	A	rs556850126	byFrequency	TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr5:78426800G>A	ENST00000274353.5	+	8	1189	c.1082G>A	c.(1081-1083)cGg>cAg	p.R361Q	BHMT_ENST00000524080.1_Missense_Mutation_p.R208Q|DMGDH_ENST00000520388.1_Intron	NM_001713.2	NP_001704.2	Q93088	BHMT1_HUMAN	betaine--homocysteine S-methyltransferase	361					amino-acid betaine catabolic process (GO:0006579)|amino-acid betaine metabolic process (GO:0006577)|cellular nitrogen compound metabolic process (GO:0034641)|L-methionine salvage (GO:0071267)|protein methylation (GO:0006479)|regulation of homocysteine metabolic process (GO:0050666)|response to organonitrogen compound (GO:0010243)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|protein complex (GO:0043234)	betaine-homocysteine S-methyltransferase activity (GO:0047150)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)	29		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	L-Methionine(DB00134)	GCCTCAGGCCGGCCATACAAC	0.532													G|||	3	0.000599042	0.0	0.0	5008	,	,		12297	0.0		0.0	False		,,,				2504	0.0031					ENST00000274353.5																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(14)|ovary(1)|prostate(1)|skin(2)	29						c.(1081-1083)cGg>cAg		betaine--homocysteine S-methyltransferase	L-Methionine(DB00134)						128.0	135.0	133.0					5																	78426800		2203	4300	6503	SO:0001583	missense	635				protein methylation|regulation of homocysteine metabolic process	cytoplasm	betaine-homocysteine S-methyltransferase activity|homocysteine S-methyltransferase activity|zinc ion binding	g.chr5:78426800G>A	BC012616	CCDS4046.1	5q14.1	2012-09-20	2010-04-28		ENSG00000145692	ENSG00000145692	2.1.1.5		1047	protein-coding gene	gene with protein product	"""betaine homocysteine methyltransferase"""	602888				8798461, 9281325	Standard	NM_001713		Approved	BHMT1	uc003kfu.4	Q93088	OTTHUMG00000108157	ENST00000274353.5:c.1082G>A	5.37:g.78426800G>A	ENSP00000274353:p.Arg361Gln					DMGDH_ENST00000520388.1_Intron|BHMT_ENST00000524080.1_Missense_Mutation_p.R208Q	p.R361Q	NM_001713.2	NP_001704.2	Q93088	BHMT1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;1.88e-45)|Epithelial(54;8.07e-41)|all cancers(79;3.51e-36)	8	1189	+		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)	361					Q9UNI9	Missense_Mutation	SNP	ENST00000274353.5	37	c.1082G>A	CCDS4046.1	.	.	.	.	.	.	.	.	.	.	G	36	5.759342	0.96898	.	.	ENSG00000145692	ENST00000274353;ENST00000524080	T;T	0.31247	1.5;1.5	5.55	5.55	0.83447	Homocysteine S-methyltransferase (2);	0.000000	0.85682	D	0.000000	T	0.62938	0.2469	M	0.86178	2.8	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.998	T	0.67860	-0.5561	10	0.72032	D	0.01	-13.2699	19.5116	0.95144	0.0:0.0:1.0:0.0	.	208;361	E5RJH0;Q93088	.;BHMT1_HUMAN	Q	361;208	ENSP00000274353:R361Q;ENSP00000428240:R208Q	ENSP00000274353:R361Q	R	+	2	0	BHMT	78462556	1.000000	0.71417	1.000000	0.80357	0.940000	0.58332	9.813000	0.99286	2.619000	0.88677	0.655000	0.94253	CGG		0.532	BHMT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226961.1	NM_001713		77	87	0	0	0	1	0	77	87				
TAOK2	9344	broad.mit.edu	37	16	29997177	29997177	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr16:29997177C>T	ENST00000308893.4	+	15	3030	c.1987C>T	c.(1987-1989)Cgg>Tgg	p.R663W	TAOK2_ENST00000279394.3_Missense_Mutation_p.R663W|TAOK2_ENST00000416441.2_Missense_Mutation_p.R490W|TAOK2_ENST00000543033.1_Missense_Mutation_p.R663W	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN	TAO kinase 2	663					actin cytoskeleton organization (GO:0030036)|activation of MAPKK activity (GO:0000186)|apoptotic process (GO:0006915)|cell migration (GO:0016477)|cellular response to DNA damage stimulus (GO:0006974)|focal adhesion assembly (GO:0048041)|G2 DNA damage checkpoint (GO:0031572)|positive regulation of JNK cascade (GO:0046330)|positive regulation of stress-activated MAPK cascade (GO:0032874)|protein targeting to membrane (GO:0006612)|regulation of cell growth (GO:0001558)|regulation of cell shape (GO:0008360)|response to stress (GO:0006950)|stress-activated MAPK cascade (GO:0051403)	cell projection (GO:0042995)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoskeleton (GO:0005856)|integral component of membrane (GO:0016021)|nucleolus (GO:0005730)|nucleus (GO:0005634)|receptor complex (GO:0043235)	ATP binding (GO:0005524)|mitogen-activated protein kinase kinase binding (GO:0031434)|protein serine/threonine kinase activity (GO:0004674)			breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						GGACCTGCTGCGGGAGGTAGG	0.592																																						ENST00000308893.4																			0				breast(1)|endometrium(3)|large_intestine(5)|lung(8)|ovary(1)|prostate(3)|skin(1)	22						c.(1987-1989)Cgg>Tgg		TAO kinase 2							36.0	31.0	33.0					16																	29997177		2197	4299	6496	SO:0001583	missense	9344				actin cytoskeleton organization|activation of MAPKK activity|apoptosis|cell migration|focal adhesion assembly|positive regulation of JNK cascade|protein targeting to membrane|regulation of cell growth|regulation of cell shape|response to stress	cytoplasmic vesicle membrane|cytoskeleton|dendrite|integral to membrane|nucleolus	ATP binding|protein serine/threonine kinase activity	g.chr16:29997177C>T	AB020688	CCDS10662.1, CCDS10663.1, CCDS58448.1	16p11.2	2008-02-05			ENSG00000149930	ENSG00000149930			16835	protein-coding gene	gene with protein product		613199				10048485, 9786855	Standard	NM_016151		Approved	TAO1, KIAA0881, PSK, PSK1, TAO2, MAP3K17	uc002dva.2	Q9UL54	OTTHUMG00000132111	ENST00000308893.4:c.1987C>T	16.37:g.29997177C>T	ENSP00000310094:p.Arg663Trp					TAOK2_ENST00000416441.2_Missense_Mutation_p.R490W|TAOK2_ENST00000543033.1_Missense_Mutation_p.R663W|TAOK2_ENST00000279394.3_Missense_Mutation_p.R663W	p.R663W	NM_001252043.1|NM_016151.3	NP_001238972.1|NP_057235.2	Q9UL54	TAOK2_HUMAN			15	3030	+			663					A5PKY1|A7MCZ2|B2RN35|B7ZM88|O94957|Q6UW73|Q7LC09|Q9NSW2	Missense_Mutation	SNP	ENST00000308893.4	37	c.1987C>T	CCDS10663.1	.	.	.	.	.	.	.	.	.	.	c	19.12	3.766237	0.69878	.	.	ENSG00000149930	ENST00000416441;ENST00000308893;ENST00000543033;ENST00000279394	T;T;T	0.54675	0.56;0.56;0.56	4.72	4.72	0.59763	.	0.171905	0.39407	N	0.001375	T	0.72875	0.3515	M	0.78637	2.42	0.80722	D	1	D;D;D;D;D	0.89917	1.0;1.0;1.0;1.0;1.0	D;D;D;D;D	0.97110	0.993;0.999;1.0;0.999;0.997	T	0.74847	-0.3525	9	.	.	.	.	16.6122	0.84886	0.0:1.0:0.0:0.0	.	854;490;663;663;663	Q86V37;Q9UL54-3;Q9UL54-2;A0PJ48;Q9UL54	.;.;.;.;TAOK2_HUMAN	W	663	ENSP00000310094:R663W;ENSP00000440336:R663W;ENSP00000279394:R663W	.	R	+	1	2	TAOK2	29904678	0.999000	0.42202	1.000000	0.80357	0.806000	0.45545	3.107000	0.50329	2.468000	0.83385	0.461000	0.40582	CGG		0.592	TAOK2-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000255152.2	NM_016151		18	24	0	0	0	1	0	18	24				
AACS	65985	broad.mit.edu	37	12	125587272	125587272	+	Silent	SNP	T	T	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr12:125587272T>C	ENST00000316519.6	+	6	824	c.618T>C	c.(616-618)tcT>tcC	p.S206S	AACS_ENST00000261686.6_Silent_p.S206S|AACS_ENST00000316543.10_5'Flank	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN	acetoacetyl-CoA synthetase	206					adipose tissue development (GO:0060612)|cellular response to cholesterol (GO:0071397)|cellular response to glucose stimulus (GO:0071333)|cellular response to testosterone stimulus (GO:0071394)|fatty acid metabolic process (GO:0006631)|liver development (GO:0001889)|positive regulation of insulin secretion (GO:0032024)|response to drug (GO:0042493)|response to ethanol (GO:0045471)|response to nutrient (GO:0007584)|response to oleic acid (GO:0034201)|response to purine-containing compound (GO:0014074)|response to starvation (GO:0042594)|white fat cell differentiation (GO:0050872)	cytoplasm (GO:0005737)	acetoacetate-CoA ligase activity (GO:0030729)|ATP binding (GO:0005524)|butyrate-CoA ligase activity (GO:0047760)			breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26	all_neural(191;0.101)|Medulloblastoma(191;0.163)			OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)		TCATCTTCTCTGTGGAGGCTG	0.502																																						ENST00000316519.6																			0				breast(1)|central_nervous_system(1)|cervix(1)|large_intestine(4)|liver(1)|lung(16)|ovary(1)|stomach(1)	26						c.(616-618)tcT>tcC		acetoacetyl-CoA synthetase							176.0	187.0	184.0					12																	125587272		2203	4300	6503	SO:0001819	synonymous_variant	65985				fatty acid metabolic process	cytosol	acetoacetate-CoA ligase activity|ATP binding	g.chr12:125587272T>C	AK022451	CCDS9263.1	12q24.31	2010-09-29			ENSG00000081760	ENSG00000081760	6.2.1.16	"""Acyl-CoA synthetase family"""	21298	protein-coding gene	gene with protein product	"""acyl-CoA synthetase family member 1"""	614364				12623130, 17762044	Standard	NM_023928		Approved	FLJ12389, SUR-5, ACSF1	uc001uhc.3	Q86V21	OTTHUMG00000168550	ENST00000316519.6:c.618T>C	12.37:g.125587272T>C						AACS_ENST00000261686.6_Silent_p.S206S	p.S206S	NM_023928.3	NP_076417.2	Q86V21	AACS_HUMAN		OV - Ovarian serous cystadenocarcinoma(86;9.82e-05)|Epithelial(86;0.000642)|all cancers(50;0.00843)	6	824	+	all_neural(191;0.101)|Medulloblastoma(191;0.163)		206					Q49AB9|Q49AC3|Q658Q8|Q8IWD2|Q8NEW5|Q9BSJ9|Q9H829|Q9HA19	Silent	SNP	ENST00000316519.6	37	c.618T>C	CCDS9263.1																																																																																				0.502	AACS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000400202.1	NM_023928		160	93	0	0	0	1	0	160	93				
IGHV3OR16-9	28307	broad.mit.edu	37	16	33647499	33647499	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr16:33647499C>A	ENST00000558425.1	-	2	100	c.101G>T	c.(100-102)gGg>gTg	p.G34V																								CAGGGACCCCCCAGGCTGTAC	0.567																																						ENST00000558425.1																			0											c.(100-102)gGg>gTg									78.0	90.0	87.0					16																	33647499		1827	4087	5914	SO:0001583	missense	28307							g.chr16:33647499C>A																												ENST00000558425.1:c.101G>T	16.37:g.33647499C>A	ENSP00000475107:p.Gly34Val						p.G34V							2	100	-									Missense_Mutation	SNP	ENST00000558425.1	37	c.101G>T																																																																																					0.567	RP11-812E19.9-201	KNOWN	basic	protein_coding	protein_coding				49	111	1	0	1.98717e-13	1	2.25948e-13	49	111				
DNM2	1785	broad.mit.edu	37	19	10923013	10923013	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:10923013T>C	ENST00000355667.6	+	15	1711	c.1631T>C	c.(1630-1632)gTg>gCg	p.V544A	DNM2_ENST00000585892.1_Missense_Mutation_p.V544A|DNM2_ENST00000389253.4_Missense_Mutation_p.V544A|DNM2_ENST00000359692.6_Missense_Mutation_p.V540A|DNM2_ENST00000408974.4_Missense_Mutation_p.V540A|DNM2_ENST00000314646.5_Missense_Mutation_p.V544A	NM_001005360.2|NM_001190716.1	NP_001005360.1|NP_001177645.1	P50570	DYN2_HUMAN	dynamin 2	544	PH. {ECO:0000255|PROSITE- ProRule:PRU00145}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|cell death (GO:0008219)|endocytosis (GO:0006897)|G2/M transition of mitotic cell cycle (GO:0000086)|GTP catabolic process (GO:0006184)|membrane organization (GO:0061024)|nitric oxide metabolic process (GO:0046209)|positive regulation of apoptotic process (GO:0043065)|positive regulation of transcription, DNA-templated (GO:0045893)|post-Golgi vesicle-mediated transport (GO:0006892)|receptor internalization (GO:0031623)|regulation of nitric-oxide synthase activity (GO:0050999)|regulation of transcription, DNA-templated (GO:0006355)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic vesicle transport (GO:0048489)|transferrin transport (GO:0033572)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|endocytic vesicle membrane (GO:0030666)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|Golgi apparatus (GO:0005794)|Golgi membrane (GO:0000139)|microtubule (GO:0005874)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|microtubule binding (GO:0008017)			breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42			Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)			TACTGGTTTGTGCTGACTGCC	0.622			"""F, N, Splice, Mis, O"""		ETP ALL																																	ENST00000314646.5				Rec	yes		19	19p13.2	1785	"""F, N, Splice, Mis, O"""	dynamin 2			L			ETP ALL		0				breast(2)|central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(6)|kidney(2)|large_intestine(10)|lung(11)|ovary(2)|skin(3)|upper_aerodigestive_tract(2)	42						c.(1630-1632)gTg>gCg		dynamin 2							98.0	65.0	76.0					19																	10923013		2202	4297	6499	SO:0001583	missense	1785				G2/M transition of mitotic cell cycle|positive regulation of apoptosis|positive regulation of transcription, DNA-dependent|post-Golgi vesicle-mediated transport|receptor internalization|signal transduction|synaptic vesicle transport|transferrin transport	cell junction|cytosol|Golgi membrane|microtubule|postsynaptic density|postsynaptic membrane	GTP binding|GTPase activity|microtubule binding	g.chr19:10923013T>C		CCDS32907.1, CCDS32908.1, CCDS45968.1, CCDS45969.1, CCDS59351.1	19p	2014-09-17						"""Pleckstrin homology (PH) domain containing"""	2974	protein-coding gene	gene with protein product	"""dynamin II"", ""cytoskeletal protein"""	602378				7590285, 9143510	Standard	NM_001190716		Approved	DYNII, DYN2, CMTDIB, CMTDI1, DI-CMTB	uc002mps.2	P50570		ENST00000355667.6:c.1631T>C	19.37:g.10923013T>C	ENSP00000347890:p.Val544Ala					DNM2_ENST00000389253.4_Missense_Mutation_p.V544A|DNM2_ENST00000359692.6_Missense_Mutation_p.V540A|DNM2_ENST00000355667.6_Missense_Mutation_p.V544A|DNM2_ENST00000585892.1_Missense_Mutation_p.V544A|DNM2_ENST00000408974.4_Missense_Mutation_p.V540A	p.V544A			P50570	DYN2_HUMAN	Epithelial(33;4.17e-05)|all cancers(31;8.48e-05)		15	1795	+			544			PH.		A8K1B6|E7EV30|E9PEQ4|K7ESI9|Q5I0Y0|Q7Z5S3|Q9UPH4	Missense_Mutation	SNP	ENST00000355667.6	37	c.1631T>C	CCDS45968.1	.	.	.	.	.	.	.	.	.	.	T	25.0	4.596314	0.86953	.	.	ENSG00000079805	ENST00000408974;ENST00000355667;ENST00000359692;ENST00000389253;ENST00000314646;ENST00000545324	T;T;T	0.79940	-1.32;-1.32;-1.32	5.36	5.36	0.76844	Pleckstrin homology-type (1);Pleckstrin homology domain (3);	0.063541	0.64402	D	0.000006	D	0.91071	0.7190	M	0.91406	3.205	0.58432	D	0.999999	P;P;P;B;P;B	0.49635	0.926;0.926;0.831;0.409;0.831;0.373	D;D;D;P;D;P	0.69654	0.965;0.959;0.925;0.815;0.945;0.728	D	0.91634	0.5321	10	0.41790	T	0.15	-1.87	14.3739	0.66860	0.0:0.0:0.0:1.0	.	138;273;540;540;544;544	Q8N1K8;B4DJ53;A8K1B6;P50570-2;P50570;E9PEQ4	.;.;.;.;DYN2_HUMAN;.	A	540;540;544;544;544;151	ENSP00000386192:V540A;ENSP00000373905:V544A;ENSP00000313164:V544A	ENSP00000313164:V544A	V	+	2	0	DNM2	10784013	1.000000	0.71417	0.999000	0.59377	0.942000	0.58702	7.935000	0.87658	2.042000	0.60477	0.533000	0.62120	GTG		0.622	DNM2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000452592.1	NM_004945		10	9	0	0	0	1	0	10	9				
OXSM	54995	broad.mit.edu	37	3	25832847	25832847	+	Silent	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr3:25832847C>T	ENST00000280701.3	+	2	435	c.336C>T	c.(334-336)atC>atT	p.I112I	NGLY1_ENST00000417874.2_5'Flank|OXSM_ENST00000420173.2_Silent_p.I112I|OXSM_ENST00000449808.1_Intron	NM_017897.2	NP_060367.1	Q9NWU1	OXSM_HUMAN	3-oxoacyl-ACP synthase, mitochondrial	112					acyl-CoA metabolic process (GO:0006637)|medium-chain fatty acid biosynthetic process (GO:0051792)|short-chain fatty acid biosynthetic process (GO:0051790)	mitochondrion (GO:0005739)	3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						AATCAGATATCAAGTCCATGT	0.453																																						ENST00000280701.3																			0				breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(9)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	25						c.(334-336)atC>atT		3-oxoacyl-ACP synthase, mitochondrial							159.0	134.0	143.0					3																	25832847		2203	4300	6503	SO:0001819	synonymous_variant	54995				acyl-CoA metabolic process|medium-chain fatty acid biosynthetic process|short-chain fatty acid biosynthetic process	mitochondrion	3-oxoacyl-[acyl-carrier-protein] synthase activity	g.chr3:25832847C>T	BC008202	CCDS2643.1, CCDS46780.1	3p24.2	2010-03-19			ENSG00000151093	ENSG00000151093	2.3.1.41		26063	protein-coding gene	gene with protein product	"""beta-ketoacyl synthase"""	610324				12477932	Standard	NM_017897		Approved	KS, FLJ20604, FASN2D	uc003cdn.3	Q9NWU1	OTTHUMG00000130477	ENST00000280701.3:c.336C>T	3.37:g.25832847C>T						OXSM_ENST00000449808.1_Intron|OXSM_ENST00000420173.2_Silent_p.I112I	p.I112I	NM_017897.2	NP_060367.1	Q9NWU1	OXSM_HUMAN			2	435	+			112						Silent	SNP	ENST00000280701.3	37	c.336C>T	CCDS2643.1																																																																																				0.453	OXSM-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252876.2	NM_017897		24	20	0	0	0	1	0	24	20				
MAB21L1	4081	broad.mit.edu	37	13	36050199	36050199	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr13:36050199G>A	ENST00000379919.4	-	1	633	c.77C>T	c.(76-78)gCc>gTc	p.A26V	NBEA_ENST00000540320.1_Intron|NBEA_ENST00000400445.3_Intron|NBEA_ENST00000310336.4_Intron|NBEA_ENST00000537702.1_5'Flank|NBEA_ENST00000379939.2_Intron	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN	mab-21-like 1 (C. elegans)	26					anatomical structure morphogenesis (GO:0009653)|camera-type eye development (GO:0043010)|positive regulation of cell proliferation (GO:0008284)	nucleus (GO:0005634)				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)		TTTGGCAATGGCAGCTTTCCT	0.502																																						ENST00000379919.4																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(3)|lung(7)|ovary(2)|skin(2)|upper_aerodigestive_tract(1)	20						c.(76-78)gCc>gTc		mab-21-like 1 (C. elegans)							99.0	102.0	101.0					13																	36050199		2203	4300	6503	SO:0001583	missense	4081				anatomical structure morphogenesis	nucleus		g.chr13:36050199G>A	BC028170	CCDS9353.1	13q13.3	2008-02-05	2001-11-28		ENSG00000180660	ENSG00000180660			6757	protein-coding gene	gene with protein product		601280	"""mab-21 (C. elegans)-like 1"""			8733127	Standard	NM_005584		Approved	CAGR1		Q13394	OTTHUMG00000016723	ENST00000379919.4:c.77C>T	13.37:g.36050199G>A	ENSP00000369251:p.Ala26Val					NBEA_ENST00000310336.4_Intron|NBEA_ENST00000540320.1_Intron|NBEA_ENST00000400445.3_Intron|NBEA_ENST00000379939.2_Intron	p.A26V	NM_005584.4	NP_005575.1	Q13394	MB211_HUMAN		all cancers(112;9.63e-08)|Epithelial(112;1.37e-06)|BRCA - Breast invasive adenocarcinoma(63;0.000659)|OV - Ovarian serous cystadenocarcinoma(117;0.00372)|GBM - Glioblastoma multiforme(144;0.115)	1	633	-		Breast(139;0.014)|Lung SC(185;0.051)|Prostate(109;0.202)	26					Q6I9T5	Missense_Mutation	SNP	ENST00000379919.4	37	c.77C>T	CCDS9353.1	.	.	.	.	.	.	.	.	.	.	G	12.92	2.081947	0.36758	.	.	ENSG00000180660	ENST00000379919	T	0.17854	2.25	5.76	5.76	0.90799	.	0.098314	0.64402	D	0.000002	T	0.13927	0.0337	N	0.22421	0.69	0.58432	D	0.999999	B	0.20368	0.044	B	0.21546	0.035	T	0.09207	-1.0685	10	0.27785	T	0.31	-3.5372	16.2648	0.82571	0.0:0.0:0.867:0.133	.	26	Q13394	MB211_HUMAN	V	26	ENSP00000369251:A26V	ENSP00000369251:A26V	A	-	2	0	MAB21L1	34948199	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	9.869000	0.99810	2.736000	0.93811	0.655000	0.94253	GCC		0.502	MAB21L1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044459.3	NM_005584		38	94	0	0	0	1	0	38	94				
F12	2161	broad.mit.edu	37	5	176829388	176829388	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr5:176829388T>C	ENST00000253496.3	-	14	1801	c.1753A>G	c.(1753-1755)Agc>Ggc	p.S585G	F12_ENST00000514943.1_5'Flank|PFN3_ENST00000358571.2_5'Flank	NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	coagulation factor XII (Hageman factor)	585	Peptidase S1. {ECO:0000255|PROSITE- ProRule:PRU00274}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|Factor XII activation (GO:0002542)|fibrinolysis (GO:0042730)|innate immune response (GO:0045087)|plasma kallikrein-kinin cascade (GO:0002353)|positive regulation of blood coagulation (GO:0030194)|positive regulation of fibrinolysis (GO:0051919)|positive regulation of plasminogen activation (GO:0010756)|protein autoprocessing (GO:0016540)|protein processing (GO:0016485)|response to misfolded protein (GO:0051788)|zymogen activation (GO:0031638)	extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|plasma membrane (GO:0005886)	misfolded protein binding (GO:0051787)|serine-type aminopeptidase activity (GO:0070009)|serine-type endopeptidase activity (GO:0004252)			central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		Ethanolamine Oleate(DB06689)	GATCCCCAGCTGATGATGCCT	0.632									Hereditary Angioedema																													ENST00000253496.3																			0				central_nervous_system(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(5)|skin(1)|urinary_tract(1)	12						c.(1753-1755)Agc>Ggc		coagulation factor XII (Hageman factor)							65.0	52.0	56.0					5																	176829388		2203	4300	6503	SO:0001583	missense	2161	Hereditary Angioedema	Familial Cancer Database	HAE, type I-III, Hereditary Angioneurotic Edema, HANE,	Factor XII activation|fibrinolysis|innate immune response|positive regulation of blood coagulation|positive regulation of fibrinolysis|positive regulation of plasminogen activation|protein autoprocessing|response to misfolded protein|zymogen activation	extracellular space|plasma membrane	serine-type endopeptidase activity	g.chr5:176829388T>C	M31315	CCDS34302.1	5q35.3	2014-09-17			ENSG00000131187	ENSG00000131187	3.4.21.38		3530	protein-coding gene	gene with protein product		610619					Standard	NM_000505		Approved		uc003mgo.4	P00748	OTTHUMG00000163403	ENST00000253496.3:c.1753A>G	5.37:g.176829388T>C	ENSP00000253496:p.Ser585Gly						p.S585G	NM_000505.3	NP_000496.2	P00748	FA12_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		14	1801	-	all_cancers(89;2.04e-05)|Renal(175;0.000269)|Lung NSC(126;0.000832)|all_lung(126;0.00152)	all_neural(177;0.00409)|Medulloblastoma(196;0.00498)|all_hematologic(541;0.21)	585			Peptidase S1.		P78339	Missense_Mutation	SNP	ENST00000253496.3	37	c.1753A>G	CCDS34302.1	.	.	.	.	.	.	.	.	.	.	T	18.85	3.711427	0.68730	.	.	ENSG00000131187	ENST00000253496	D	0.93133	-3.17	5.41	5.41	0.78517	Peptidase cysteine/serine, trypsin-like (1);Peptidase S1/S6, chymotrypsin/Hap (3);	0.115277	0.39544	N	0.001327	D	0.97645	0.9228	H	0.95816	3.725	0.40876	D	0.983952	D	0.89917	1.0	D	0.87578	0.998	D	0.99433	1.0936	10	0.72032	D	0.01	.	14.4311	0.67251	0.0:0.0:0.0:1.0	.	585	P00748	FA12_HUMAN	G	585	ENSP00000253496:S585G	ENSP00000253496:S585G	S	-	1	0	F12	176761994	1.000000	0.71417	1.000000	0.80357	0.679000	0.39708	2.592000	0.46171	2.063000	0.61619	0.459000	0.35465	AGC		0.632	F12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000373217.1			7	29	0	0	0	1	0	7	29				
ANLN	54443	broad.mit.edu	37	7	36464327	36464327	+	Missense_Mutation	SNP	G	G	C	rs201028914	byFrequency	TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:36464327G>C	ENST00000265748.2	+	17	2906	c.2685G>C	c.(2683-2685)aaG>aaC	p.K895N	ANLN_ENST00000396068.2_Missense_Mutation_p.K858N	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN	anillin, actin binding protein	895	Localization to the cleavage furrow.				hematopoietic progenitor cell differentiation (GO:0002244)|mitotic cytokinesis (GO:0000281)|mitotic nuclear division (GO:0007067)|regulation of exit from mitosis (GO:0007096)|septin ring assembly (GO:0000921)	actin cytoskeleton (GO:0015629)|actomyosin contractile ring (GO:0005826)|intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	actin binding (GO:0003779)			breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						GCCTTGATAAGAAGAAAAAAA	0.294																																						ENST00000265748.2																			0				breast(2)|endometrium(5)|kidney(5)|large_intestine(9)|lung(17)|ovary(2)|prostate(3)|skin(2)	45						c.(2683-2685)aaG>aaC		anillin, actin binding protein							61.0	65.0	64.0					7																	36464327		2200	4299	6499	SO:0001583	missense	54443				cytokinesis|mitosis|regulation of exit from mitosis|septin ring assembly	actomyosin contractile ring|nucleus	actin binding	g.chr7:36464327G>C	AF273437	CCDS5447.1, CCDS64628.1	7p15-p14	2013-01-10	2006-08-22		ENSG00000011426	ENSG00000011426		"""Pleckstrin homology (PH) domain containing"""	14082	protein-coding gene	gene with protein product			"""anillin (Drosophila Scraps homolog), actin binding protein"", ""anillin, actin binding protein (scraps homolog, Drosophila)"""			10931866	Standard	NM_001284301		Approved	ANILLIN, Scraps, scra	uc003tff.3	Q9NQW6	OTTHUMG00000023143	ENST00000265748.2:c.2685G>C	7.37:g.36464327G>C	ENSP00000265748:p.Lys895Asn					ANLN_ENST00000396068.2_Missense_Mutation_p.K858N	p.K895N	NM_018685.2	NP_061155.2	Q9NQW6	ANLN_HUMAN			17	2906	+			895			Localization to the cleavage furrow.		Q5CZ78|Q6NSK5|Q9H8Y4|Q9NVN9|Q9NVP0	Missense_Mutation	SNP	ENST00000265748.2	37	c.2685G>C	CCDS5447.1	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	.|.|.	G|G|G	18.46|18.46|18.46	3.628019|3.628019|3.628019	0.66901|0.66901|0.66901	.|.|.	.|.|.	ENSG00000011426|ENSG00000011426|ENSG00000011426	ENST00000428612|ENST00000265748;ENST00000396068|ENST00000446635;ENST00000457743	.|T;T|.	.|0.49720|.	.|0.77;0.77|.	5.92|5.92|5.92	4.14|4.14|4.14	0.48551|0.48551|0.48551	.|.|.	.|0.000000|.	.|0.85682|.	.|D|.	.|0.000000|.	T|T|T	0.65270|0.65270|0.65270	0.2675|0.2675|0.2675	M|M|M	0.71581|0.71581|0.71581	2.175|2.175|2.175	0.54753|0.54753|0.54753	D|D|D	0.999988|0.999988|0.999988	.|D;P;P;P|.	.|0.89917|.	.|1.0;0.926;0.909;0.926|.	.|D;P;P;P|.	.|0.97110|.	.|1.0;0.857;0.777;0.857|.	T|T|T	0.63111|0.63111|0.63111	-0.6710|-0.6710|-0.6710	5|10|5	.|0.56958|.	.|D|.	.|0.05|.	-19.563|-19.563|-19.563	9.8305|9.8305|9.8305	0.40939|0.40939|0.40939	0.222:0.0:0.778:0.0|0.222:0.0:0.778:0.0|0.222:0.0:0.778:0.0	.|.|.	.|772;857;858;895|.	.|B4DSL6;A8K5D9;Q9NQW6-2;Q9NQW6|.	.|.;.;.;ANLN_HUMAN|.	Q|N|T	60|895;858|249;99	.|ENSP00000265748:K895N;ENSP00000379380:K858N|.	.|ENSP00000265748:K895N|.	E|K|R	+|+|+	1|3|2	0|2|0	ANLN|ANLN|ANLN	36430852|36430852|36430852	1.000000|1.000000|1.000000	0.71417|0.71417|0.71417	1.000000|1.000000|1.000000	0.80357|0.80357|0.80357	0.907000|0.907000|0.907000	0.53573|0.53573|0.53573	1.888000|1.888000|1.888000	0.39708|0.39708|0.39708	0.863000|0.863000|0.863000	0.35553|0.35553|0.35553	0.650000|0.650000|0.650000	0.86243|0.86243|0.86243	GAA|AAG|AGA		0.294	ANLN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000218582.3	NM_018685		6	21	0	0	0	1	0	6	21				
PCNX	22990	broad.mit.edu	37	14	71575657	71575657	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr14:71575657C>T	ENST00000304743.2	+	34	7084	c.6638C>T	c.(6637-6639)gCg>gTg	p.A2213V	PCNX_ENST00000238570.5_Missense_Mutation_p.A2141V|PCNX_ENST00000439984.3_Missense_Mutation_p.A2102V|PCNX_ENST00000556272.1_3'UTR	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	pecanex homolog (Drosophila)	2213						integral component of membrane (GO:0016021)				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87			KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)		GGCTTTCTTGCGACAGAGGGA	0.567																																						ENST00000304743.2																			0				NS(2)|biliary_tract(1)|breast(3)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(14)|liver(2)|lung(40)|ovary(1)|prostate(7)|skin(2)|urinary_tract(1)	87						c.(6637-6639)gCg>gTg		pecanex homolog (Drosophila)							84.0	82.0	83.0					14																	71575657		2203	4300	6503	SO:0001583	missense	22990					integral to membrane		g.chr14:71575657C>T	AF233450, AB018348	CCDS9806.1	14q24.2	2014-07-03							19740	protein-coding gene	gene with protein product			"""pecanex-like 1 (Drosophila)"""	PCNXL1		9244429, 15777640	Standard	NM_014982		Approved	KIAA0995, KIAA0805, pecanex	uc001xmo.2	Q96RV3		ENST00000304743.2:c.6638C>T	14.37:g.71575657C>T	ENSP00000304192:p.Ala2213Val					PCNX_ENST00000556272.1_3'UTR|PCNX_ENST00000439984.3_Missense_Mutation_p.A2102V|PCNX_ENST00000238570.5_Missense_Mutation_p.A2141V	p.A2213V	NM_014982.2	NP_055797.2	Q96RV3	PCX1_HUMAN	KIRC - Kidney renal clear cell carcinoma(12;0.206)	all cancers(60;0.00835)|BRCA - Breast invasive adenocarcinoma(234;0.00951)|OV - Ovarian serous cystadenocarcinoma(108;0.0417)	34	7084	+			2213					B2RTR6|O94897|Q96AI7|Q9Y2J9	Missense_Mutation	SNP	ENST00000304743.2	37	c.6638C>T	CCDS9806.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	17.31|17.31	3.357994|3.357994	0.61403|0.61403	.|.	.|.	ENSG00000100731|ENSG00000100731	ENST00000304743;ENST00000238570;ENST00000439984|ENST00000554691	T;T;T|.	0.11063|.	3.25;3.23;2.81|.	5.86|5.86	4.97|4.97	0.65823|0.65823	.|.	0.048553|.	0.85682|.	D|.	0.000000|.	T|.	0.34193|.	0.0889|.	N|N	0.08118|0.08118	0|0	0.31462|0.31462	N|N	0.669408|0.669408	B;B;B|.	0.15930|.	0.01;0.015;0.015|.	B;B;B|.	0.16722|.	0.016;0.008;0.004|.	T|.	0.35025|.	-0.9805|.	10|.	0.66056|.	D|.	0.02|.	.|.	16.8731|16.8731	0.86044|0.86044	0.0:0.1334:0.8666:0.0|0.0:0.1334:0.8666:0.0	.|.	2141;2102;2213|.	Q96RV3-3;B2RTR6;Q96RV3|.	.;.;PCX1_HUMAN|.	V|X	2213;2141;2102|1200	ENSP00000304192:A2213V;ENSP00000238570:A2141V;ENSP00000396617:A2102V|.	ENSP00000238570:A2141V|.	A|R	+|+	2|1	0|2	PCNX|PCNX	70645410|70645410	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.102000|0.102000	0.19082|0.19082	5.659000|5.659000	0.68010|0.68010	1.481000|1.481000	0.48307|0.48307	-0.357000|-0.357000	0.07601|0.07601	GCG|CGA		0.567	PCNX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412479.1	NM_014982		34	33	0	0	0	1	0	34	33				
MGME1	92667	broad.mit.edu	37	20	17970729	17970729	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr20:17970729C>A	ENST00000377704.4	+	3	745	c.659C>A	c.(658-660)tCa>tAa	p.S220*	MGME1_ENST00000377710.5_Missense_Mutation_p.Q338K|MGME1_ENST00000377709.1_Missense_Mutation_p.Q258K|MGME1_ENST00000467391.1_3'UTR					mitochondrial genome maintenance exonuclease 1																		CCAGAATATTCAGAAACCAGA	0.413																																						ENST00000377704.4																			0											c.(658-660)tCa>tAa		mitochondrial genome maintenance exonuclease 1							53.0	54.0	54.0					20																	17970729		2203	4300	6503	SO:0001587	stop_gained	92667							g.chr20:17970729C>A		CCDS13131.1	20p11.23	2013-08-29	2013-01-11	2013-01-11	ENSG00000125871	ENSG00000125871			16205	protein-coding gene	gene with protein product		615076	"""chromosome 20 open reading frame 72"""	C20orf72		23313956, 23358826, 23434322	Standard	NM_052865		Approved	bA504H3.4, DDK1	uc002wqh.3	Q9BQP7	OTTHUMG00000031955	ENST00000377704.4:c.659C>A	20.37:g.17970729C>A	ENSP00000366933:p.Ser220*					MGME1_ENST00000467391.1_3'UTR|MGME1_ENST00000377709.1_Missense_Mutation_p.Q258K|MGME1_ENST00000377710.5_Missense_Mutation_p.Q338K	p.S220*							3	745	+									Nonsense_Mutation	SNP	ENST00000377704.4	37	c.659C>A		.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	15.57|15.57	2.873522|2.873522	0.51695|0.51695	.|.	.|.	ENSG00000125871|ENSG00000125871	ENST00000377710;ENST00000377709|ENST00000377704	T;T|.	0.41758|.	0.99;1.01|.	6.08|6.08	5.1|5.1	0.69264|0.69264	.|.	0.466038|.	0.24671|.	N|.	0.036560|.	T|.	0.64091|.	0.2567|.	L|L	0.57536|0.57536	1.79|1.79	0.80722|0.80722	D|D	1|1	B|.	0.34103|.	0.437|.	B|.	0.29862|.	0.108|.	T|.	0.56001|.	-0.8051|.	10|.	0.09338|0.07325	T|T	0.73|0.83	-12.7469|-12.7469	15.2735|15.2735	0.73723|0.73723	0.0:0.86:0.14:0.0|0.0:0.86:0.14:0.0	.|.	338|.	Q9BQP7|.	CT072_HUMAN|.	K|X	338;258|220	ENSP00000366939:Q338K;ENSP00000366938:Q258K|.	ENSP00000366938:Q258K|ENSP00000366933:S220X	Q|S	+|+	1|2	0|0	C20orf72|C20orf72	17918729|17918729	0.325000|0.325000	0.24660|0.24660	0.775000|0.775000	0.31657|0.31657	0.176000|0.176000	0.22953|0.22953	1.311000|1.311000	0.33562|0.33562	2.894000|2.894000	0.99253|0.99253	0.655000|0.655000	0.94253|0.94253	CAG|TCA		0.413	MGME1-003	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000078141.1	NM_052865		27	28	1	0	9.65021e-13	1	1.0912e-12	27	28				
UBASH3B	84959	broad.mit.edu	37	11	122666900	122666900	+	Nonsense_Mutation	SNP	C	C	T	rs375615215		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:122666900C>T	ENST00000284273.5	+	8	1525	c.1150C>T	c.(1150-1152)Cga>Tga	p.R384*		NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN	ubiquitin associated and SH3 domain containing B	384	Protein tyrosine phosphatase. {ECO:0000250}.				negative regulation of platelet aggregation (GO:0090331)|negative regulation of protein kinase activity (GO:0006469)|regulation of release of sequestered calcium ion into cytosol (GO:0051279)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	protein tyrosine phosphatase activity (GO:0004725)			breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)		CCCCCAGAAGCGATGCCTTTT	0.547											OREG0021442	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000284273.5																			0				breast(1)|central_nervous_system(1)|endometrium(3)|large_intestine(5)|lung(11)|prostate(1)|skin(2)|stomach(2)	26						c.(1150-1152)Cga>Tga		ubiquitin associated and SH3 domain containing B		C	stop/ARG	0,4404		0,0,2202	171.0	149.0	156.0		1150	4.6	1.0	11		156	1,8597	1.2+/-3.3	0,1,4298	no	stop-gained	UBASH3B	NM_032873.4		0,1,6500	TT,TC,CC		0.0116,0.0,0.0077		384/650	122666900	1,13001	2202	4299	6501	SO:0001587	stop_gained	84959					cytoplasm|nucleus	protein tyrosine phosphatase activity	g.chr11:122666900C>T	AB075839	CCDS31694.1	11q24.1	2010-04-28	2010-04-28		ENSG00000154127	ENSG00000154127			29884	protein-coding gene	gene with protein product	"""SH3 domain-containing 70 kDa protein, suppressor of T-cell receptor signaling 1, nm23-phosphorylated unknown substrate"""	609201				11853319, 12370296	Standard	NM_032873		Approved	KIAA1959, STS-1	uc001pyi.4	Q8TF42	OTTHUMG00000166025	ENST00000284273.5:c.1150C>T	11.37:g.122666900C>T	ENSP00000284273:p.Arg384*		OREG0021442	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1520		p.R384*	NM_032873.4	NP_116262.2	Q8TF42	UBS3B_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.37e-05)|OV - Ovarian serous cystadenocarcinoma(99;0.0463)	8	1525	+		Breast(109;0.00254)|Medulloblastoma(222;0.00877)|Lung NSC(97;0.0183)|all_lung(97;0.0186)|all_neural(223;0.0381)|all_hematologic(192;0.104)	384			Protein tyrosine phosphatase (By similarity).		Q53GT5|Q53GT8|Q8NBV7|Q96IG9|Q96NZ2	Nonsense_Mutation	SNP	ENST00000284273.5	37	c.1150C>T	CCDS31694.1	.	.	.	.	.	.	.	.	.	.	C	42	9.300138	0.99130	0.0	1.16E-4	ENSG00000154127	ENST00000284273	.	.	.	5.54	4.61	0.57282	.	0.049895	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	-8.7863	13.4947	0.61419	0.3257:0.6743:0.0:0.0	.	.	.	.	X	384	.	ENSP00000284273:R384X	R	+	1	2	UBASH3B	122172110	1.000000	0.71417	1.000000	0.80357	0.978000	0.69477	1.879000	0.39618	1.247000	0.43917	0.655000	0.94253	CGA		0.547	UBASH3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387499.1	NM_032873		35	91	0	0	0	1	0	35	91				
MYH8	4626	broad.mit.edu	37	17	10301888	10301888	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:10301888C>T	ENST00000403437.2	-	30	4145	c.4051G>A	c.(4051-4053)Gag>Aag	p.E1351K	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN	myosin, heavy chain 8, skeletal muscle, perinatal	1351					ATP catabolic process (GO:0006200)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|skeletal muscle contraction (GO:0003009)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)|sarcomere (GO:0030017)	actin filament binding (GO:0051015)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|myosin light chain binding (GO:0032027)|structural constituent of muscle (GO:0008307)			NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						TGCTCTTCCTCATACTGTTCC	0.572									Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling																													ENST00000403437.2																			0				NS(3)|breast(8)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(1)|kidney(5)|large_intestine(23)|lung(61)|ovary(3)|prostate(3)|skin(10)|upper_aerodigestive_tract(2)|urinary_tract(2)	134						c.(4051-4053)Gag>Aag		myosin, heavy chain 8, skeletal muscle, perinatal							167.0	153.0	158.0					17																	10301888		2203	4300	6503	SO:0001583	missense	4626	Trismus-Pseudocamptodactyly Syndrome with Cardiac Myxoma and Freckling	Familial Cancer Database	Carney Complex Variant	muscle filament sliding	cytosol|muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity|structural constituent of muscle	g.chr17:10301888C>T		CCDS11153.1	17p13.1	2013-09-19	2006-09-29		ENSG00000133020	ENSG00000133020		"""Myosins / Myosin superfamily : Class II"""	7578	protein-coding gene	gene with protein product		160741	"""myosin, heavy polypeptide 8, skeletal muscle, perinatal"""			2373371	Standard	NM_002472		Approved	MyHC-peri, MyHC-pn	uc002gmm.2	P13535	OTTHUMG00000130361	ENST00000403437.2:c.4051G>A	17.37:g.10301888C>T	ENSP00000384330:p.Glu1351Lys					CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000581304.1_RNA|CTC-297N7.7_ENST00000587182.1_RNA	p.E1351K	NM_002472.2	NP_002463.2	P13535	MYH8_HUMAN			30	4145	-			1351					Q14910	Missense_Mutation	SNP	ENST00000403437.2	37	c.4051G>A	CCDS11153.1	.	.	.	.	.	.	.	.	.	.	C	36	5.752163	0.96890	.	.	ENSG00000133020	ENST00000252173;ENST00000403437	D	0.84070	-1.8	5.35	5.35	0.76521	Myosin tail (1);	0.000000	0.41938	U	0.000795	D	0.94387	0.8195	H	0.96720	3.87	0.58432	D	0.999999	D	0.76494	0.999	D	0.70935	0.971	D	0.95773	0.8810	10	0.87932	D	0	.	19.253	0.93933	0.0:1.0:0.0:0.0	.	1351	P13535	MYH8_HUMAN	K	1351	ENSP00000384330:E1351K	ENSP00000252173:E1351K	E	-	1	0	MYH8	10242613	1.000000	0.71417	0.984000	0.44739	0.998000	0.95712	7.498000	0.81546	2.785000	0.95823	0.655000	0.94253	GAG		0.572	MYH8-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252724.2	NM_002472		54	128	0	0	0	1	0	54	128				
JMJD6	23210	broad.mit.edu	37	17	74720008	74720008	+	Silent	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:74720008G>A	ENST00000397625.4	-	3	765	c.651C>T	c.(649-651)ctC>ctT	p.L217L	METTL23_ENST00000588302.1_5'Flank|JMJD6_ENST00000445478.2_Silent_p.L217L|METTL23_ENST00000591571.1_5'Flank|METTL23_ENST00000341249.6_5'Flank|METTL23_ENST00000586752.1_5'Flank|METTL23_ENST00000586738.1_5'Flank|METTL23_ENST00000588822.1_5'Flank|METTL23_ENST00000589977.1_5'Flank|METTL23_ENST00000590964.1_5'Flank|JMJD6_ENST00000585429.1_Silent_p.L217L|METTL23_ENST00000588783.1_5'Flank	NM_015167.2	NP_055982.2	Q6NYC1	JMJD6_HUMAN	jumonji domain containing 6	217	JmjC. {ECO:0000255|PROSITE- ProRule:PRU00538}.				cell surface receptor signaling pathway (GO:0007166)|erythrocyte development (GO:0048821)|heart development (GO:0007507)|histone H3-R2 demethylation (GO:0070078)|histone H4-R3 demethylation (GO:0070079)|kidney development (GO:0001822)|lung development (GO:0030324)|macrophage activation (GO:0042116)|mRNA processing (GO:0006397)|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine (GO:0018395)|recognition of apoptotic cell (GO:0043654)|regulation of mRNA splicing, via spliceosome (GO:0048024)|regulation of transcription, DNA-templated (GO:0006355)|retina development in camera-type eye (GO:0060041)|RNA splicing (GO:0008380)|sprouting angiogenesis (GO:0002040)|T cell differentiation in thymus (GO:0033077)|transcription, DNA-templated (GO:0006351)	nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	histone demethylase activity (H3-R2 specific) (GO:0033746)|histone demethylase activity (H4-R3 specific) (GO:0033749)|identical protein binding (GO:0042802)|iron ion binding (GO:0005506)|peptidyl-lysine 5-dioxygenase activity (GO:0070815)|receptor activity (GO:0004872)|RNA binding (GO:0003723)|single-stranded RNA binding (GO:0003727)			endometrium(2)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|skin(2)	16						TCACTTTGATGAGTTCCCTGG	0.542																																						ENST00000445478.2																			0				endometrium(2)|kidney(5)|large_intestine(2)|lung(3)|ovary(2)|skin(2)	16						c.(649-651)ctC>ctT		jumonji domain containing 6							134.0	130.0	131.0					17																	74720008		1946	4137	6083	SO:0001819	synonymous_variant	23210				mRNA processing|peptidyl-lysine hydroxylation to 5-hydroxy-L-lysine|regulation of nuclear mRNA splicing, via spliceosome|regulation of transcription, DNA-dependent|RNA splicing|sprouting angiogenesis|transcription, DNA-dependent	nucleolus|nucleoplasm	histone demethylase activity (H3-R2 specific)|histone demethylase activity (H4-R3 specific)|identical protein binding|iron ion binding|oxidoreductase activity, acting on single donors with incorporation of molecular oxygen, incorporation of two atoms of oxygen|peptidyl-lysine 5-dioxygenase activity|single-stranded RNA binding	g.chr17:74720008G>A	AB011157	CCDS42383.1, CCDS42384.1	17q25	2007-11-20	2007-02-16	2007-02-16	ENSG00000070495	ENSG00000070495			19355	protein-coding gene	gene with protein product		604914	"""phosphatidylserine receptor"""	PTDSR		11877474	Standard	NM_015167		Approved	PTDSR1, KIAA0585	uc002jsn.1	Q6NYC1	OTTHUMG00000169267	ENST00000397625.4:c.651C>T	17.37:g.74720008G>A						JMJD6_ENST00000397625.4_Silent_p.L217L|JMJD6_ENST00000585429.1_Silent_p.L217L	p.L217L	NM_001081461.1	NP_001074930.1	Q6NYC1	JMJD6_HUMAN			3	854	-			217			JmjC.		B3KMN8|B4DGX1|Q86VY0|Q8IUM5|Q9Y4E2	Silent	SNP	ENST00000397625.4	37	c.651C>T	CCDS42384.1																																																																																				0.542	JMJD6-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000403211.1	NM_015167		43	84	0	0	0	1	0	43	84				
N4BP2L1	90634	broad.mit.edu	37	13	32972342	32972342	+	IGR	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr13:32972342C>T	ENST00000380130.2	-	0	3046				BRCA2_ENST00000380152.3_Missense_Mutation_p.S3231L|BRCA2_ENST00000544455.1_Missense_Mutation_p.S3231L	NM_052818.2	NP_438169.2	Q5TBK1	N42L1_HUMAN	NEDD4 binding protein 2-like 1											large_intestine(1)|lung(2)|ovary(1)|skin(1)	5		Lung SC(185;0.0262)		all cancers(112;6.3e-06)|Epithelial(112;3.51e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.00607)|BRCA - Breast invasive adenocarcinoma(63;0.0171)		AGTCCTTTATCACTTTGTATG	0.343																																						ENST00000544455.1										"""D, Mis, N, F, S"""						"""breast, ovarian, pancreatic, leukemia  (FANCB, FANCD1)"""	"""breast, ovarian, pancreatic"""		0				NS(3)|breast(13)|central_nervous_system(5)|cervix(2)|endometrium(24)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(32)|liver(1)|lung(41)|oesophagus(5)|ovary(22)|pancreas(4)|prostate(3)|salivary_gland(1)|skin(11)|upper_aerodigestive_tract(2)|urinary_tract(3)	183						c.(9691-9693)tCa>tTa	Homologous recombination	breast cancer 2, early onset							108.0	117.0	114.0					13																	32972342		2203	4300	6503	SO:0001628	intergenic_variant	675	Pancreatic Cancer, Familial Clustering of;Li-Fraumeni syndrome;Hereditary Prostate Cancer;Hereditary Breast-Ovarian Cancer, BRCA2 type;Fanconi Anemia type D1, bi-allelic BRCA2 mutations;Fanconi Anemia			cell cycle cytokinesis|centrosome duplication|double-strand break repair via homologous recombination|negative regulation of mammary gland epithelial cell proliferation|nucleotide-excision repair|positive regulation of transcription, DNA-dependent|regulation of S phase of mitotic cell cycle	BRCA2-MAGE-D1 complex|centrosome|nucleoplasm|stored secretory granule	gamma-tubulin binding|H3 histone acetyltransferase activity|H4 histone acetyltransferase activity|protease binding|single-stranded DNA binding	g.chr13:32972342C>T	U50527	CCDS9345.2, CCDS41877.1	13q13.1	2008-11-05			ENSG00000139597	ENSG00000139597			25037	protein-coding gene	gene with protein product	"""hypothetical gene CG018"""					8812419	Standard	NM_052818		Approved	CG018	uc001uuc.3	Q5TBK1	OTTHUMG00000016697		13.37:g.32972342C>T		TCGA Ovarian(8;0.087)				BRCA2_ENST00000380152.3_Missense_Mutation_p.S3231L	p.S3231L	NM_000059.3	NP_000050.2	P51587	BRCA2_HUMAN		all cancers(112;7.13e-07)|Epithelial(112;1.59e-05)|OV - Ovarian serous cystadenocarcinoma(117;0.000732)|BRCA - Breast invasive adenocarcinoma(63;0.0291)|GBM - Glioblastoma multiforme(144;0.0704)	27	9919	+		Lung SC(185;0.0262)	3231					A4QN21|Q5TBK0	Missense_Mutation	SNP	ENST00000380130.2	37	c.9692C>T	CCDS9345.2	.	.	.	.	.	.	.	.	.	.	C	13.33	2.204282	0.38905	.	.	ENSG00000139618	ENST00000380152;ENST00000544455	T;T	0.00792	5.69;5.69	4.21	3.36	0.38483	.	1.027250	0.07723	N	0.943961	T	0.01661	0.0053	M	0.71581	2.175	0.19775	N	0.999958	B	0.25007	0.116	B	0.23852	0.049	T	0.41716	-0.9493	10	0.72032	D	0.01	.	11.0414	0.47833	0.0:0.9116:0.0:0.0884	.	3231	P51587	BRCA2_HUMAN	L	3231	ENSP00000369497:S3231L;ENSP00000439902:S3231L	ENSP00000369497:S3231L	S	+	2	0	BRCA2	31870342	0.356000	0.24930	0.212000	0.23672	0.014000	0.08584	2.110000	0.41873	1.346000	0.45694	0.591000	0.81541	TCA		0.343	N4BP2L1-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_052818		26	83	0	0	0	1	0	26	83				
USP34	9736	broad.mit.edu	37	2	61566564	61566564	+	Nonsense_Mutation	SNP	G	G	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:61566564G>T	ENST00000398571.2	-	18	2742	c.2666C>A	c.(2665-2667)tCg>tAg	p.S889*		NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	ubiquitin specific peptidase 34	889					positive regulation of canonical Wnt signaling pathway (GO:0090263)|protein deubiquitination (GO:0016579)|protein K48-linked deubiquitination (GO:0071108)|ubiquitin-dependent protein catabolic process (GO:0006511)|Wnt signaling pathway (GO:0016055)		cysteine-type endopeptidase activity (GO:0004197)|ubiquitin thiolesterase activity (GO:0004221)|ubiquitin-specific protease activity (GO:0004843)	p.S889L(1)		autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138			Epithelial(17;0.229)			ACATACTAACGAACAAAGAAG	0.289																																						ENST00000398571.2																			1	Substitution - Missense(1)	p.S889L(1)	large_intestine(1)	autonomic_ganglia(1)|breast(14)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(24)|lung(52)|ovary(8)|prostate(10)|skin(6)|urinary_tract(2)	138						c.(2665-2667)tCg>tAg		ubiquitin specific peptidase 34							78.0	70.0	73.0					2																	61566564		1796	4061	5857	SO:0001587	stop_gained	9736				positive regulation of canonical Wnt receptor signaling pathway|protein K48-linked deubiquitination|ubiquitin-dependent protein catabolic process|Wnt receptor signaling pathway		cysteine-type endopeptidase activity|protein binding|ubiquitin thiolesterase activity|ubiquitin-specific protease activity	g.chr2:61566564G>T	AB011142	CCDS42686.1	2p16.1-p15	2005-08-08	2005-08-08		ENSG00000115464	ENSG00000115464		"""Ubiquitin-specific peptidases"""	20066	protein-coding gene	gene with protein product		615295	"""ubiquitin specific protease 34"""			12838346	Standard	NM_014709		Approved	KIAA0570, KIAA0729	uc002sbe.3	Q70CQ2	OTTHUMG00000152265	ENST00000398571.2:c.2666C>A	2.37:g.61566564G>T	ENSP00000381577:p.Ser889*						p.S889*	NM_014709.3	NP_055524.3	Q70CQ2	UBP34_HUMAN	Epithelial(17;0.229)		18	2742	-			889					A8MWD0|B3KWU9|O60316|O94834|Q3B777|Q6P6C9|Q7L8P6|Q8N3T9|Q8TBW2|Q9UGA1	Nonsense_Mutation	SNP	ENST00000398571.2	37	c.2666C>A	CCDS42686.1	.	.	.	.	.	.	.	.	.	.	G	39	7.752380	0.98471	.	.	ENSG00000115464	ENST00000263989;ENST00000398569;ENST00000398571	.	.	.	5.69	5.69	0.88448	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.06236	T	0.91	.	19.8093	0.96541	0.0:0.0:1.0:0.0	.	.	.	.	X	737;737;889	.	ENSP00000263989:S737X	S	-	2	0	USP34	61420068	1.000000	0.71417	1.000000	0.80357	0.862000	0.49288	9.869000	0.99810	2.688000	0.91661	0.460000	0.39030	TCG		0.289	USP34-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325650.4			15	22	1	0	3.27435e-08	1	3.54577e-08	15	22				
ZFHX3	463	broad.mit.edu	37	16	72822363	72822363	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr16:72822363G>A	ENST00000268489.5	-	10	10484	c.9812C>T	c.(9811-9813)aCg>aTg	p.T3271M	RP5-991G20.1_ENST00000563328.2_RNA|AC004943.1_ENST00000584072.1_RNA|RP5-991G20.4_ENST00000569195.1_RNA|ZFHX3_ENST00000397992.5_Missense_Mutation_p.T2357M	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN	zinc finger homeobox 3	3271					brain development (GO:0007420)|cell cycle arrest (GO:0007050)|muscle organ development (GO:0007517)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of myoblast differentiation (GO:0045663)|regulation of neuron differentiation (GO:0045664)|regulation of transcription, DNA-templated (GO:0006355)|transcription from RNA polymerase II promoter (GO:0006366)	mitochondrion (GO:0005739)|nucleus (GO:0005634)|transcription factor complex (GO:0005667)	enzyme binding (GO:0019899)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153		Ovarian(137;0.13)				GGCTGAGATCGTGGCTGCAGT	0.602																																						ENST00000268489.5																			0				NS(3)|breast(7)|cervix(2)|endometrium(18)|haematopoietic_and_lymphoid_tissue(5)|kidney(8)|large_intestine(22)|liver(1)|lung(46)|ovary(5)|pancreas(1)|prostate(15)|skin(6)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(11)	153						c.(9811-9813)aCg>aTg		zinc finger homeobox 3							77.0	86.0	83.0					16																	72822363		2198	4300	6498	SO:0001583	missense	463				muscle organ development|negative regulation of myoblast differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transcription, DNA-dependent|positive regulation of myoblast differentiation	transcription factor complex	enzyme binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr16:72822363G>A	D10250	CCDS10908.1, CCDS54035.1	16q22.3	2012-03-09	2007-08-09	2007-08-09	ENSG00000140836	ENSG00000140836		"""Zinc fingers, C2H2-type"", ""Homeoboxes / ZF class"""	777	protein-coding gene	gene with protein product		104155	"""AT-binding transcription factor 1"""	ATBF1		1719379, 7592926	Standard	NM_006885		Approved	ZNF927	uc002fck.3	Q15911	OTTHUMG00000137599	ENST00000268489.5:c.9812C>T	16.37:g.72822363G>A	ENSP00000268489:p.Thr3271Met					ZFHX3_ENST00000397992.5_Missense_Mutation_p.T2357M	p.T3271M	NM_006885.3	NP_008816.3	Q15911	ZFHX3_HUMAN			10	10484	-		Ovarian(137;0.13)	3271					D3DWS8|O15101|Q13719	Missense_Mutation	SNP	ENST00000268489.5	37	c.9812C>T	CCDS10908.1	.	.	.	.	.	.	.	.	.	.	G	14.50	2.554544	0.45487	.	.	ENSG00000140836	ENST00000268489;ENST00000397992	T;T	0.74106	-0.81;-0.79	5.55	5.55	0.83447	.	0.123452	0.36234	N	0.002714	T	0.67524	0.2902	L	0.27053	0.805	0.51233	D	0.999915	P	0.49358	0.923	B	0.42188	0.379	T	0.72808	-0.4181	10	0.66056	D	0.02	.	19.5071	0.95124	0.0:0.0:1.0:0.0	.	3271	Q15911	ZFHX3_HUMAN	M	3271;2357	ENSP00000268489:T3271M;ENSP00000438926:T2357M	ENSP00000268489:T3271M	T	-	2	0	ZFHX3	71379864	0.973000	0.33851	0.875000	0.34327	0.958000	0.62258	5.216000	0.65246	2.617000	0.88574	0.557000	0.71058	ACG		0.602	ZFHX3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000269008.1	NM_006885		45	94	0	0	0	1	0	45	94				
ZNF701	55762	broad.mit.edu	37	19	53077370	53077370	+	Silent	SNP	G	G	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:53077370G>T	ENST00000540331.1	+	3	393	c.168G>T	c.(166-168)cgG>cgT	p.R56R	CTD-3099C6.7_ENST00000599222.1_RNA|ZNF701_ENST00000391785.3_5'UTR|ZNF701_ENST00000301093.2_Silent_p.R56R|ZNF701_ENST00000478039.1_3'UTR	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN	zinc finger protein 701	56					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(5)|kidney(1)|large_intestine(2)|lung(6)	14				OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)		AAAAAACACGGAAGAGGAAGA	0.433																																					NSCLC(89;451 1475 9611 20673 52284)	ENST00000540331.1																			0				endometrium(5)|kidney(1)|large_intestine(2)|lung(6)	14						c.(166-168)cgG>cgT		zinc finger protein 701							155.0	120.0	132.0					19																	53077370		2203	4300	6503	SO:0001819	synonymous_variant	55762				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:53077370G>T	AK001753	CCDS33092.1, CCDS54311.1	19q13.41	2013-01-08				ENSG00000167562		"""Zinc fingers, C2H2-type"", ""-"""	25597	protein-coding gene	gene with protein product							Standard	NM_018260		Approved	FLJ10891	uc021uyw.1	Q9NV72		ENST00000540331.1:c.168G>T	19.37:g.53077370G>T						ZNF701_ENST00000391785.3_5'UTR|ZNF701_ENST00000301093.2_Silent_p.R56R|ZNF701_ENST00000478039.1_3'UTR	p.R56R	NM_001172655.1	NP_001166126.1	Q9NV72	ZN701_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.0105)|GBM - Glioblastoma multiforme(134;0.0402)	3	393	+			211			KRAB.		A2RRM8|B9EGF2|F5GZM6|Q66K42	Silent	SNP	ENST00000540331.1	37	c.168G>T	CCDS54311.1																																																																																				0.433	ZNF701-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000463467.1	NM_018260		21	58	1	0	0.000229342	1	0.000234302	21	58				
OR10G9	219870	broad.mit.edu	37	11	123894262	123894262	+	Silent	SNP	G	G	A	rs139965523		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:123894262G>A	ENST00000375024.1	+	1	543	c.543G>A	c.(541-543)ccG>ccA	p.P181P		NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN	olfactory receptor, family 10, subfamily G, member 9	181						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)	p.P181P(1)		breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)		GTGATGCACCGCCCATCCTGA	0.542													g|||	1	0.000199681	0.0	0.0	5008	,	,		23068	0.0		0.001	False		,,,				2504	0.0					ENST00000375024.1																			1	Substitution - coding silent(1)	p.P181P(1)	prostate(1)	breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(33)|prostate(2)|skin(4)|stomach(8)|urinary_tract(1)	61						c.(541-543)ccG>ccA		olfactory receptor, family 10, subfamily G, member 9		A		0,4402		0,0,2201	271.0	232.0	245.0		543	-6.9	0.0	11	dbSNP_134	245	3,8595	2.2+/-6.3	0,3,4296	no	coding-synonymous	OR10G9	NM_001001953.1		0,3,6497	AA,AG,GG		0.0349,0.0,0.0231		181/312	123894262	3,12997	2201	4299	6500	SO:0001819	synonymous_variant	219870				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr11:123894262G>A	AB065756	CCDS31703.1	11q24.1	2012-08-09			ENSG00000236981	ENSG00000236981		"""GPCR / Class A : Olfactory receptors"""	15129	protein-coding gene	gene with protein product				OR10G10P			Standard	NM_001001953		Approved		uc010sad.2	Q8NGN4	OTTHUMG00000165967	ENST00000375024.1:c.543G>A	11.37:g.123894262G>A							p.P181P	NM_001001953.1	NP_001001953.1	Q8NGN4	O10G9_HUMAN		BRCA - Breast invasive adenocarcinoma(274;4.88e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0399)	1	543	+		Breast(109;0.00867)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.118)|all_lung(97;0.126)|all_neural(223;0.22)	181						Silent	SNP	ENST00000375024.1	37	c.543G>A	CCDS31703.1																																																																																				0.542	OR10G9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387269.1	NM_001001953		75	130	0	0	0	1	0	75	130				
JMY	133746	broad.mit.edu	37	5	78612017	78612017	+	Missense_Mutation	SNP	G	G	A	rs34067120	byFrequency	TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr5:78612017G>A	ENST00000396137.4	+	10	3316	c.2854G>A	c.(2854-2856)Gat>Aat	p.D952N	JMY_ENST00000412001.1_Intron	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN	junction mediating and regulatory protein, p53 cofactor	952					'de novo' actin filament nucleation (GO:0070060)|actin polymerization-dependent cell motility (GO:0070358)|Arp2/3 complex-mediated actin nucleation (GO:0034314)|cell cycle arrest (GO:0007050)|DNA repair (GO:0006281)|intrinsic apoptotic signaling pathway by p53 class mediator (GO:0072332)|positive regulation of apoptotic process (GO:0043065)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|regulation of transcription from RNA polymerase II promoter (GO:0006357)	cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|nucleus (GO:0005634)	transcription coactivator activity (GO:0003713)			endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)		ACTTCTACCCGATACAGACCC	0.418																																						ENST00000396137.4																			0				endometrium(4)|kidney(2)|large_intestine(2)|lung(6)|skin(1)|urinary_tract(1)	16						c.(2854-2856)Gat>Aat		junction mediating and regulatory protein, p53 cofactor		G	ASN/ASP	2,3712		0,2,1855	67.0	63.0	64.0		2854	5.7	1.0	5	dbSNP_126	64	18,8188		0,18,4085	yes	missense	JMY	NM_152405.4	23	0,20,5940	AA,AG,GG		0.2194,0.0539,0.1678	probably-damaging	952/989	78612017	20,11900	1857	4103	5960	SO:0001583	missense	133746				'de novo' actin filament nucleation|actin polymerization-dependent cell motility|Arp2/3 complex-mediated actin nucleation|cell cycle arrest|DNA repair|induction of apoptosis|positive regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter	cell leading edge|cytoplasm|cytoskeleton|nucleus	actin binding|transcription coactivator activity	g.chr5:78612017G>A	AK095189	CCDS4047.3	5q14.1	2010-03-23			ENSG00000152409	ENSG00000152409			28916	protein-coding gene	gene with protein product		604279				10518217	Standard	NM_152405		Approved	FLJ37870	uc003kfx.4	Q8N9B5	OTTHUMG00000131301	ENST00000396137.4:c.2854G>A	5.37:g.78612017G>A	ENSP00000379441:p.Asp952Asn					JMY_ENST00000412001.1_Intron	p.D952N	NM_152405.4	NP_689618.4	Q8N9B5	JMY_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.45e-45)|Epithelial(54;5.85e-40)|all cancers(79;2.89e-35)	10	3316	+		all_lung(232;0.00051)|Lung NSC(167;0.00131)|Ovarian(174;0.0261)|Prostate(461;0.191)	952					A1L4P5|B5MDS2|B5MDT0	Missense_Mutation	SNP	ENST00000396137.4	37	c.2854G>A	CCDS4047.3	.	.	.	.	.	.	.	.	.	.	G	25.9	4.681514	0.88542	5.39E-4	0.002194	ENSG00000152409	ENST00000282259;ENST00000396137	T	0.32753	1.44	5.65	5.65	0.86999	.	0.128773	0.51477	D	0.000094	T	0.48554	0.1506	L	0.43923	1.385	0.52099	D	0.99994	D	0.89917	1.0	D	0.76071	0.987	T	0.14254	-1.0479	10	0.21014	T	0.42	.	19.7184	0.96132	0.0:0.0:1.0:0.0	rs34067120	952	Q8N9B5	JMY_HUMAN	N	941;952	ENSP00000379441:D952N	ENSP00000282259:D941N	D	+	1	0	JMY	78647773	1.000000	0.71417	0.992000	0.48379	0.990000	0.78478	6.793000	0.75130	2.672000	0.90937	0.643000	0.83706	GAT		0.418	JMY-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254070.4	NM_152405		12	19	0	0	0	1	0	12	19				
ZNF236	7776	broad.mit.edu	37	18	74593273	74593273	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr18:74593273C>T	ENST00000253159.8	+	9	1414	c.1216C>T	c.(1216-1218)Cca>Tca	p.P406S	ZNF236_ENST00000320610.9_Missense_Mutation_p.P408S	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN	zinc finger protein 236	406					cellular response to glucose stimulus (GO:0071333)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)		GTCTTCAATTCCAGCTGCAGC	0.483																																						ENST00000253159.8																			0				NS(1)|breast(2)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(14)|lung(43)|ovary(7)|pancreas(1)|prostate(6)|skin(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	94						c.(1216-1218)Cca>Tca		zinc finger protein 236							89.0	92.0	91.0					18																	74593273		2041	4205	6246	SO:0001583	missense	7776				cellular response to glucose stimulus	nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr18:74593273C>T	AF085243	CCDS42447.1	18q22-q23	2013-01-08				ENSG00000130856		"""Zinc fingers, C2H2-type"""	13028	protein-coding gene	gene with protein product		604760				10458916	Standard	NM_007345		Approved		uc002lmi.3	Q9UL36		ENST00000253159.8:c.1216C>T	18.37:g.74593273C>T	ENSP00000253159:p.Pro406Ser					ZNF236_ENST00000320610.9_Missense_Mutation_p.P408S	p.P406S	NM_007345.3	NP_031371.3	Q9UL36	ZN236_HUMAN		OV - Ovarian serous cystadenocarcinoma(15;4.36e-06)|BRCA - Breast invasive adenocarcinoma(31;0.0686)	9	1414	+		Prostate(75;0.0405)|Esophageal squamous(42;0.129)|Melanoma(33;0.132)	406					B2RTX9|Q9UL37	Missense_Mutation	SNP	ENST00000253159.8	37	c.1216C>T	CCDS42447.1	.	.	.	.	.	.	.	.	.	.	C	18.66	3.671862	0.67928	.	.	ENSG00000130856	ENST00000253159;ENST00000543926;ENST00000320610	T;T	0.11495	2.77;2.97	4.66	4.66	0.58398	.	0.000000	0.56097	D	0.000038	T	0.28962	0.0719	M	0.67953	2.075	0.50632	D	0.999885	D;P	0.69078	0.997;0.799	D;B	0.64042	0.921;0.234	T	0.02173	-1.1201	10	0.26408	T	0.33	.	17.9205	0.88964	0.0:1.0:0.0:0.0	.	406;406	Q9NWI2;Q9UL36	.;ZN236_HUMAN	S	406	ENSP00000253159:P406S;ENSP00000444524:P406S	ENSP00000253159:P406S	P	+	1	0	ZNF236	72722261	1.000000	0.71417	1.000000	0.80357	0.683000	0.39861	3.467000	0.53078	2.306000	0.77630	0.455000	0.32223	CCA		0.483	ZNF236-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000445776.1			38	39	0	0	0	1	0	38	39				
TGFB1I1	7041	broad.mit.edu	37	16	31488684	31488684	+	Silent	SNP	G	G	A	rs149594870		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr16:31488684G>A	ENST00000394863.3	+	11	1303	c.1173G>A	c.(1171-1173)ccG>ccA	p.P391P	TGFB1I1_ENST00000394858.2_Silent_p.P374P|TGFB1I1_ENST00000567607.1_Silent_p.P374P|TGFB1I1_ENST00000361773.3_Silent_p.P374P	NM_001042454.2	NP_001035919.1	O43294	TGFI1_HUMAN	transforming growth factor beta 1 induced transcript 1	391	LIM zinc-binding 3. {ECO:0000255|PROSITE- ProRule:PRU00125}.				androgen receptor signaling pathway (GO:0030521)|cell adhesion (GO:0007155)|cell fate commitment (GO:0045165)|epithelial cell differentiation (GO:0030855)|morphogenesis of embryonic epithelium (GO:0016331)|negative regulation of cell proliferation (GO:0008285)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|response to heat (GO:0009408)|transcription from RNA polymerase II promoter (GO:0006366)|ubiquitin-dependent SMAD protein catabolic process (GO:0030579)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|focal adhesion (GO:0005925)|intracellular (GO:0005622)|nucleus (GO:0005634)	androgen receptor binding (GO:0050681)|I-SMAD binding (GO:0070411)|Roundabout binding (GO:0048495)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)			lung(8)|upper_aerodigestive_tract(1)	9						AGGGCCGCCCGTTGTGCGAGA	0.682																																						ENST00000394863.3																			0				lung(8)|upper_aerodigestive_tract(1)	9						c.(1171-1173)ccG>ccA		transforming growth factor beta 1 induced transcript 1		G	,,	0,4390		0,0,2195	24.0	23.0	23.0		1173,1122,1122	-0.9	1.0	16	dbSNP_134	23	1,8597		0,1,4298	no	coding-synonymous,coding-synonymous,coding-synonymous	TGFB1I1	NM_001042454.2,NM_001164719.1,NM_015927.4	,,	0,1,6493	AA,AG,GG		0.0116,0.0,0.0077	,,	391/462,374/445,374/445	31488684	1,12987	2195	4299	6494	SO:0001819	synonymous_variant	7041				androgen receptor signaling pathway|cell adhesion|negative regulation of cell proliferation|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of epithelial to mesenchymal transition|positive regulation of transcription, DNA-dependent|positive regulation of transforming growth factor beta receptor signaling pathway|transcription from RNA polymerase II promoter|ubiquitin-dependent SMAD protein catabolic process|Wnt receptor signaling pathway	cytoplasm|cytoskeleton|focal adhesion|nuclear matrix	androgen receptor binding|I-SMAD binding|Roundabout binding|transcription coactivator activity|zinc ion binding	g.chr16:31488684G>A	AB007836	CCDS10713.1, CCDS42156.1	16p11	2008-02-05			ENSG00000140682	ENSG00000140682			11767	protein-coding gene	gene with protein product		602353				9422762, 10075738	Standard	NM_015927		Approved	Hic-5, TSC-5, ARA55, HIC-5	uc002ecd.2	O43294	OTTHUMG00000132467	ENST00000394863.3:c.1173G>A	16.37:g.31488684G>A						TGFB1I1_ENST00000361773.3_Silent_p.P374P|TGFB1I1_ENST00000394858.2_Silent_p.P374P|TGFB1I1_ENST00000567607.1_Silent_p.P374P	p.P391P	NM_001042454.2	NP_001035919.1	O43294	TGFI1_HUMAN			11	1303	+			391			LIM zinc-binding 3.		B2R8D5|Q9BPW3|Q9Y2V5	Silent	SNP	ENST00000394863.3	37	c.1173G>A	CCDS42156.1																																																																																				0.682	TGFB1I1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255630.3			14	16	0	0	0	1	0	14	16				
SLC4A1AP	22950	broad.mit.edu	37	2	27900722	27900722	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:27900722G>A	ENST00000326019.6	+	8	1976	c.1694G>A	c.(1693-1695)aGg>aAg	p.R565K		NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN	solute carrier family 4 (anion exchanger), member 1, adaptor protein	565						cytoplasm (GO:0005737)|nucleus (GO:0005634)				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23	Acute lymphoblastic leukemia(172;0.155)					TTTGAACTGAGGAAAGAACAA	0.353																																						ENST00000326019.6																			0				breast(2)|cervix(1)|endometrium(2)|kidney(2)|large_intestine(6)|lung(9)|upper_aerodigestive_tract(1)	23						c.(1693-1695)aGg>aAg		solute carrier family 4 (anion exchanger), member 1, adaptor protein							93.0	93.0	93.0					2																	27900722		2203	4300	6503	SO:0001583	missense	22950					cytoplasm|nucleus	double-stranded RNA binding|protein binding	g.chr2:27900722G>A		CCDS33166.1	2p23.3	2010-03-11	2001-11-28		ENSG00000163798	ENSG00000163798			13813	protein-coding gene	gene with protein product	"""lung cancer oncogene 3"""	602655	"""solute carrier family 4 (anion exchanger), member 1, adapter protein"""			9422766	Standard	NM_018158		Approved	kanadaptin, HLC3	uc002rlk.4	Q9BWU0	OTTHUMG00000151944	ENST00000326019.6:c.1694G>A	2.37:g.27900722G>A	ENSP00000323837:p.Arg565Lys						p.R565K	NM_018158.2	NP_060628.2	Q9BWU0	NADAP_HUMAN			8	1976	+	Acute lymphoblastic leukemia(172;0.155)		565					A6NJ39|Q4KMT1|Q4KMX0|Q7Z5Q9|Q9NVN2	Missense_Mutation	SNP	ENST00000326019.6	37	c.1694G>A	CCDS33166.1	.	.	.	.	.	.	.	.	.	.	G	13.99	2.401357	0.42613	.	.	ENSG00000163798	ENST00000326019	T	0.27104	1.69	5.51	5.51	0.81932	.	0.115194	0.64402	D	0.000003	T	0.15219	0.0367	N	0.12920	0.275	0.35982	D	0.836068	B	0.15719	0.014	B	0.18871	0.023	T	0.17471	-1.0368	10	0.26408	T	0.33	-20.2939	10.9444	0.47292	0.145:0.0:0.855:0.0	.	565	Q9BWU0	NADAP_HUMAN	K	565	ENSP00000323837:R565K	ENSP00000323837:R565K	R	+	2	0	SLC4A1AP	27754226	1.000000	0.71417	0.995000	0.50966	0.981000	0.71138	1.451000	0.35145	2.585000	0.87301	0.650000	0.86243	AGG		0.353	SLC4A1AP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000324550.1	NM_018158		15	43	0	0	0	1	0	15	43				
SH3RF1	57630	broad.mit.edu	37	4	170042112	170042112	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr4:170042112G>C	ENST00000284637.9	-	8	1716	c.1375C>G	c.(1375-1377)Cgg>Ggg	p.R459G	SH3RF1_ENST00000508685.1_5'UTR	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN	SH3 domain containing ring finger 1	459	Interaction with AKT2. {ECO:0000250}.|SH3 3. {ECO:0000255|PROSITE- ProRule:PRU00192}.				negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of extrinsic apoptotic signaling pathway (GO:2001237)|protein ubiquitination (GO:0016567)|regulation of JNK cascade (GO:0046328)	cell projection (GO:0042995)|cytosol (GO:0005829)|Golgi apparatus (GO:0005794)	ligase activity (GO:0016874)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31		Prostate(90;0.00267)|Renal(120;0.0183)		GBM - Glioblastoma multiforme(119;0.0287)		TCCTCTTTCCGAGGAGTGTAT	0.403																																						ENST00000284637.9																			0				NS(1)|breast(2)|endometrium(2)|kidney(2)|large_intestine(4)|lung(10)|prostate(2)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(4)	31						c.(1375-1377)Cgg>Ggg		SH3 domain containing ring finger 1							110.0	95.0	100.0					4																	170042112		2203	4300	6503	SO:0001583	missense	57630					Golgi apparatus|lamellipodium|perinuclear region of cytoplasm	ligase activity|zinc ion binding	g.chr4:170042112G>C	BC033203	CCDS34099.1	4q32.3	2013-01-09	2006-02-13	2006-02-13	ENSG00000154447	ENSG00000154447		"""RING-type (C3HC4) zinc fingers"""	17650	protein-coding gene	gene with protein product	"""plenty of SH3 domains"""		"""SH3 multiple domains 2"""	SH3MD2		9482736	Standard	NM_020870		Approved	POSH, RNF142, KIAA1494	uc003isa.1	Q7Z6J0	OTTHUMG00000161010	ENST00000284637.9:c.1375C>G	4.37:g.170042112G>C	ENSP00000284637:p.Arg459Gly					SH3RF1_ENST00000508685.1_5'UTR	p.R459G	NM_020870.3	NP_065921.2	Q7Z6J0	SH3R1_HUMAN		GBM - Glioblastoma multiforme(119;0.0287)	8	1716	-		Prostate(90;0.00267)|Renal(120;0.0183)	459			Interaction with AKT2 (By similarity).|SH3 3.		Q05BT2|Q8IW46|Q9HAM2|Q9P234	Missense_Mutation	SNP	ENST00000284637.9	37	c.1375C>G	CCDS34099.1	.	.	.	.	.	.	.	.	.	.	G	15.33	2.800344	0.50315	.	.	ENSG00000154447	ENST00000284637	T	0.51574	0.7	5.92	5.03	0.67393	Src homology-3 domain (4);	0.000000	0.85682	D	0.000000	T	0.55816	0.1944	L	0.47016	1.485	0.80722	D	1	P	0.52577	0.954	P	0.55667	0.781	T	0.57118	-0.7866	10	0.72032	D	0.01	-25.6438	14.5513	0.68068	0.0:0.0:0.7518:0.2482	.	459	Q7Z6J0	SH3R1_HUMAN	G	459	ENSP00000284637:R459G	ENSP00000284637:R459G	R	-	1	2	SH3RF1	170278687	1.000000	0.71417	1.000000	0.80357	0.033000	0.12548	5.386000	0.66238	2.811000	0.96726	0.555000	0.69702	CGG		0.403	SH3RF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000363382.3	NM_020870		19	48	0	0	0	1	0	19	48				
ALPL	249	broad.mit.edu	37	1	21904050	21904050	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:21904050G>T	ENST00000374840.3	+	12	1734	c.1484G>T	c.(1483-1485)gGc>gTc	p.G495V	ALPL_ENST00000374830.1_Missense_Mutation_p.G141V|ALPL_ENST00000539907.1_Missense_Mutation_p.G418V|ALPL_ENST00000425315.2_Missense_Mutation_p.G495V|ALPL_ENST00000374829.1_Missense_Mutation_p.G141V|ALPL_ENST00000540617.1_Missense_Mutation_p.G440V|ALPL_ENST00000374832.1_Missense_Mutation_p.G495V	NM_000478.4	NP_000469.3	P05186	PPBT_HUMAN	alkaline phosphatase, liver/bone/kidney	495					cellular response to organic cyclic compound (GO:0071407)|cementum mineralization (GO:0071529)|developmental process involved in reproduction (GO:0003006)|endochondral ossification (GO:0001958)|osteoblast differentiation (GO:0001649)|response to antibiotic (GO:0046677)|response to glucocorticoid (GO:0051384)|response to lipopolysaccharide (GO:0032496)|response to vitamin D (GO:0033280)|skeletal system development (GO:0001501)	anchored component of membrane (GO:0031225)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	alkaline phosphatase activity (GO:0004035)|metal ion binding (GO:0046872)|pyrophosphatase activity (GO:0016462)	p.G495D(1)		breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	Amifostine(DB01143)|Fospropofol(DB06716)	GCCAACCTCGGCCACTGTGCT	0.687																																						ENST00000374840.3																			1	Substitution - Missense(1)	p.G495D(1)	lung(1)	breast(1)|central_nervous_system(2)|endometrium(2)|kidney(1)|large_intestine(1)|lung(11)|ovary(3)|pancreas(1)|prostate(1)|skin(2)|urinary_tract(1)	26						c.(1483-1485)gGc>gTc		alkaline phosphatase, liver/bone/kidney	Amifostine(DB01143)						32.0	28.0	29.0					1																	21904050		2184	4284	6468	SO:0001583	missense	249				response to vitamin D|skeletal system development	anchored to membrane|cytoplasm|integral to membrane|plasma membrane	alkaline phosphatase activity|metal ion binding	g.chr1:21904050G>T	BC021289	CCDS217.1, CCDS53274.1, CCDS53275.1	1p36.12	2008-02-05			ENSG00000162551	ENSG00000162551	3.1.3.1		438	protein-coding gene	gene with protein product		171760		HOPS		3532105, 3446011	Standard	NM_001127501		Approved	TNSALP	uc001bet.3	P05186	OTTHUMG00000002949	ENST00000374840.3:c.1484G>T	1.37:g.21904050G>T	ENSP00000363973:p.Gly495Val					ALPL_ENST00000374832.1_Missense_Mutation_p.G495V|ALPL_ENST00000540617.1_Missense_Mutation_p.G440V|ALPL_ENST00000539907.1_Missense_Mutation_p.G418V|ALPL_ENST00000425315.2_Missense_Mutation_p.G495V|ALPL_ENST00000374829.1_Missense_Mutation_p.G141V|ALPL_ENST00000374830.1_Missense_Mutation_p.G141V	p.G495V	NM_000478.4	NP_000469.3	P05186	PPBT_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0192)|OV - Ovarian serous cystadenocarcinoma(117;8.7e-28)|COAD - Colon adenocarcinoma(152;1.57e-05)|GBM - Glioblastoma multiforme(114;2.66e-05)|BRCA - Breast invasive adenocarcinoma(304;0.000177)|STAD - Stomach adenocarcinoma(196;0.00645)|KIRC - Kidney renal clear cell carcinoma(1967;0.00856)|READ - Rectum adenocarcinoma(331;0.0623)|Lung(427;0.146)	12	1734	+		all_lung(284;2.19e-05)|Lung NSC(340;2.22e-05)|Colorectal(325;3.46e-05)|Renal(390;0.000219)|Breast(348;0.00222)|Ovarian(437;0.00308)|Myeloproliferative disorder(586;0.0255)	495					A1A4E7|B2RMP8|B7Z387|B7Z4Y6|O75090|Q2TAI7|Q59EJ7|Q5BKZ5|Q5VTG5|Q6NZI8|Q8WU32|Q9UBK0	Missense_Mutation	SNP	ENST00000374840.3	37	c.1484G>T	CCDS217.1	.	.	.	.	.	.	.	.	.	.	a	5.785	0.329251	0.10956	.	.	ENSG00000162551	ENST00000539907;ENST00000540617;ENST00000374840;ENST00000374832;ENST00000425315;ENST00000374830;ENST00000374829	D;D;D;D;D;D;D	0.97279	-3.92;-3.92;-3.74;-3.74;-3.74;-4.32;-4.32	4.59	4.59	0.56863	Alkaline phosphatase-like, alpha/beta/alpha (1);Alkaline-phosphatase-like, core domain (1);	0.285191	0.37095	N	0.002244	D	0.90899	0.7140	N	0.08118	0	0.34287	D	0.682855	B;B;B	0.22983	0.012;0.078;0.007	B;B;B	0.21546	0.017;0.035;0.001	D	0.88605	0.3152	10	0.46703	T	0.11	-21.6058	8.4643	0.32947	0.9071:0.0:0.0929:0.0	.	418;443;495	B7Z387;B7Z1D1;P05186	.;.;PPBT_HUMAN	V	418;440;495;495;495;141;141	ENSP00000437674:G418V;ENSP00000442672:G440V;ENSP00000363973:G495V;ENSP00000363965:G495V;ENSP00000394765:G495V;ENSP00000363963:G141V;ENSP00000363962:G141V	ENSP00000363962:G141V	G	+	2	0	ALPL	21776637	0.690000	0.27699	0.866000	0.34008	0.017000	0.09413	1.098000	0.31000	0.804000	0.34136	-0.376000	0.06991	GGC		0.687	ALPL-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000008202.1	NM_000478		18	28	1	0	1.50039e-11	1	1.67498e-11	18	28				
SNHG14	104472715	broad.mit.edu	37	15	25496064	25496064	+	RNA	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr15:25496064C>T	ENST00000452731.1	+	0	0				SNORD115-44_ENST00000365391.1_RNA|SNORD115-43_ENST00000365503.1_RNA					small nucleolar RNA host gene 14 (non-protein coding)																		AAAAATCATGCTCAATAGGAT	0.517																																						ENST00000365391.1																			0																				429.0	427.0	427.0					15																	25496064		876	1989	2865			100033818							g.chr15:25496064C>T			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25496064C>T								NR_003359.1						0	59	+									RNA	SNP	ENST00000452731.1	37																																																																																						0.517	SNHG14-008	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000126735.1			117	321	0	0	0	1	0	117	321				
SAMD8	142891	broad.mit.edu	37	10	76868871	76868871	+	5'Flank	SNP	G	G	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr10:76868871G>T	ENST00000542569.1	+	0	0				SAMD8_ENST00000372690.3_5'Flank|DUSP13_ENST00000372700.3_Silent_p.A15A|DUSP13_ENST00000607131.1_5'UTR|SAMD8_ENST00000372687.4_5'Flank|DUSP13_ENST00000607009.1_5'UTR|DUSP13_ENST00000491677.2_5'UTR|DUSP13_ENST00000372702.3_Silent_p.A15A	NM_001174156.1|NM_144660.2	NP_001167627.1|NP_653261.1	Q96LT4	SAMD8_HUMAN	sterile alpha motif domain containing 8						ceramide biosynthetic process (GO:0046513)|regulation of ceramide biosynthetic process (GO:2000303)|sphingomyelin biosynthetic process (GO:0006686)	integral component of endoplasmic reticulum membrane (GO:0030176)|integral component of membrane (GO:0016021)	transferase activity (GO:0016740)			NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(2)|lung(4)|prostate(1)	12	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)					GGCAAGGCGTGGCTTTGTCCT	0.632																																						ENST00000372702.3																			0				large_intestine(3)|lung(3)|prostate(1)|urinary_tract(1)	8						c.(43-45)gcC>gcA		dual specificity phosphatase 13							60.0	54.0	56.0					10																	76868871		2203	4300	6503	SO:0001631	upstream_gene_variant	51207					cytoplasm	protein tyrosine phosphatase activity|protein tyrosine/serine/threonine phosphatase activity	g.chr10:76868871G>T	AK057811	CCDS7347.1, CCDS53543.1	10q22.3	2013-01-10			ENSG00000156671	ENSG00000156671		"""Sterile alpha motif (SAM) domain containing"""	26320	protein-coding gene	gene with protein product		611575					Standard	NM_144660		Approved	FLJ25082	uc001jwx.2	Q96LT4	OTTHUMG00000018515		10.37:g.76868871G>T	Exception_encountered					DUSP13_ENST00000372700.3_Silent_p.A15A|DUSP13_ENST00000607131.1_5'UTR|DUSP13_ENST00000607009.1_5'UTR|DUSP13_ENST00000491677.2_5'UTR	p.A15A			Q6B8I1	MDSP_HUMAN			1	108	-	all_cancers(46;0.0207)|all_epithelial(25;0.00126)|Prostate(51;0.0112)|Ovarian(15;0.0348)		15					Q5JSC5|Q5JSC8|Q66K52	Silent	SNP	ENST00000542569.1	37	c.45C>A	CCDS53543.1																																																																																				0.632	SAMD8-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_144660		16	44	1	0	4.7546e-09	1	5.17611e-09	16	44				
EPHA10	284656	broad.mit.edu	37	1	38188813	38188813	+	Silent	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:38188813G>A	ENST00000373048.4	-	10	1859	c.1860C>T	c.(1858-1860)ttC>ttT	p.F620F	EPHA10_ENST00000330210.7_Silent_p.F115F|EPHA10_ENST00000540011.1_Silent_p.F115F|EPHA10_ENST00000427468.2_Silent_p.F620F|EPHA10_ENST00000446149.2_5'UTR	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN	EPH receptor A10	620					ephrin receptor signaling pathway (GO:0048013)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)	ATP binding (GO:0005524)|ephrin receptor activity (GO:0005003)|transmembrane-ephrin receptor activity (GO:0005005)			NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)				GGGGGTCCAGGAATGTGCGAC	0.597																																						ENST00000373048.4																			0				NS(2)|breast(4)|cervix(1)|endometrium(5)|kidney(4)|large_intestine(4)|lung(13)|prostate(3)|skin(8)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(2)	50						c.(1858-1860)ttC>ttT		EPH receptor A10							54.0	60.0	58.0					1																	38188813		2034	4203	6237	SO:0001819	synonymous_variant	284656					extracellular region|integral to membrane|integral to plasma membrane	ATP binding|ephrin receptor activity|protein binding|transmembrane-ephrin receptor activity	g.chr1:38188813G>A	AK090974	CCDS425.1, CCDS41305.1	1p34.3	2013-02-11			ENSG00000183317	ENSG00000183317		"""EPH receptors"", ""Sterile alpha motif (SAM) domain containing"", ""Fibronectin type III domain containing"""	19987	protein-coding gene	gene with protein product		611123				12477932	Standard	NM_001099439		Approved	FLJ16103, FLJ33655	uc009vvi.3	Q5JZY3	OTTHUMG00000004325	ENST00000373048.4:c.1860C>T	1.37:g.38188813G>A						EPHA10_ENST00000427468.2_Silent_p.F620F|EPHA10_ENST00000330210.7_Silent_p.F115F|EPHA10_ENST00000446149.2_5'UTR|EPHA10_ENST00000540011.1_Silent_p.F115F	p.F620F	NM_001099439.1	NP_001092909.1	Q5JZY3	EPHAA_HUMAN			10	1859	-	Acute lymphoblastic leukemia(166;0.074)|all_hematologic(146;0.197)	Myeloproliferative disorder(586;0.0255)|all_neural(195;0.164)	620					A4FU89|J3KPB5|Q6NW42	Silent	SNP	ENST00000373048.4	37	c.1860C>T	CCDS41305.1																																																																																				0.597	EPHA10-003	KNOWN	not_organism_supported|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000012497.2	NM_173641		21	51	0	0	0	1	0	21	51				
ARHGAP29	9411	broad.mit.edu	37	1	94650429	94650429	+	Splice_Site	SNP	T	T	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:94650429T>C	ENST00000260526.6	-	18	2290	c.2108A>G	c.(2107-2109)cAg>cGg	p.Q703R	ARHGAP29_ENST00000482481.1_5'UTR	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN	Rho GTPase activating protein 29	703	Rho-GAP. {ECO:0000255|PROSITE- ProRule:PRU00172}.				positive regulation of Rho GTPase activity (GO:0032321)|regulation of small GTPase mediated signal transduction (GO:0051056)|Rho protein signal transduction (GO:0007266)|small GTPase mediated signal transduction (GO:0007264)	cytosol (GO:0005829)	metal ion binding (GO:0046872)|PDZ domain binding (GO:0030165)|Rho GTPase activator activity (GO:0005100)			NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54		all_lung(203;0.000732)|Lung NSC(277;0.00328)		all cancers(265;0.0187)|Epithelial(280;0.159)		ATAATGTACCTGTAGACACAA	0.333																																						ENST00000260526.6																			0				NS(1)|breast(5)|endometrium(6)|kidney(2)|large_intestine(9)|lung(19)|ovary(1)|skin(8)|upper_aerodigestive_tract(1)|urinary_tract(2)	54						c.e18+1		Rho GTPase activating protein 29							57.0	59.0	58.0					1																	94650429		2201	4299	6500	SO:0001630	splice_region_variant	9411				Rho protein signal transduction	cytosol	metal ion binding|Rho GTPase activator activity	g.chr1:94650429T>C		CCDS748.1	1p22.1	2011-06-29			ENSG00000137962	ENSG00000137962		"""Rho GTPase activating proteins"""	30207	protein-coding gene	gene with protein product		610496				9305890	Standard	NM_004815		Approved	PARG1	uc001dqj.4	Q52LW3	OTTHUMG00000010643	ENST00000260526.6:c.2109+1A>G	1.37:g.94650429T>C						ARHGAP29_ENST00000482481.1_5'UTR	p.Q703_splice	NM_004815.3	NP_004806.3	Q52LW3	RHG29_HUMAN		all cancers(265;0.0187)|Epithelial(280;0.159)	18	2290	-		all_lung(203;0.000732)|Lung NSC(277;0.00328)	703			Rho-GAP.		O15463|Q59H86|Q5VYZ0|Q6NVX2|Q8TBI6	Splice_Site	SNP	ENST00000260526.6	37	c.2109_splice	CCDS748.1	.	.	.	.	.	.	.	.	.	.	T	20.8	4.047457	0.75846	.	.	ENSG00000137962	ENST00000260526	T	0.21932	1.98	5.3	5.3	0.74995	Rho GTPase-activating protein domain (4);Rho GTPase activation protein (1);	0.000000	0.34700	N	0.003751	T	0.21718	0.0523	L	0.54863	1.705	0.80722	D	1	P;P	0.42248	0.655;0.774	B;P	0.48873	0.194;0.593	T	0.01256	-1.1404	10	0.66056	D	0.02	-13.2478	15.2389	0.73452	0.0:0.0:0.0:1.0	.	703;703	F8VWZ8;Q52LW3	.;RHG29_HUMAN	R	703	ENSP00000260526:Q703R	ENSP00000260526:Q703R	Q	-	2	0	ARHGAP29	94423017	1.000000	0.71417	1.000000	0.80357	0.980000	0.70556	5.270000	0.65547	1.987000	0.57996	0.455000	0.32223	CAG		0.333	ARHGAP29-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000029376.2	NM_004815	Missense_Mutation	11	29	0	0	0	1	0	11	29				
TRMU	55687	broad.mit.edu	37	22	46749737	46749737	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr22:46749737G>T	ENST00000290846.4	+	8	1186	c.846G>T	c.(844-846)aaG>aaT	p.K282N	TRMU_ENST00000381019.3_Missense_Mutation_p.K282N	NM_018006.4	NP_060476.2	O75648	MTU1_HUMAN	tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase	282					tRNA processing (GO:0008033)	mitochondrion (GO:0005739)	ATP binding (GO:0005524)|sulfurtransferase activity (GO:0016783)|tRNA binding (GO:0000049)			NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)	10		Ovarian(80;0.00965)|Breast(42;0.0194)|all_neural(38;0.0416)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00449)|LUAD - Lung adenocarcinoma(64;0.248)		TGGTGGAGAAGGACAGCGTCA	0.582																																						ENST00000290846.4																			0				NS(2)|cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|lung(2)|ovary(1)	10						c.(844-846)aaG>aaT		tRNA 5-methylaminomethyl-2-thiouridylate methyltransferase							185.0	150.0	162.0					22																	46749737		2203	4300	6503	SO:0001583	missense	55687					mitochondrion	ATP binding|sulfurtransferase activity|tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase activity|tRNA binding	g.chr22:46749737G>T	AY062123	CCDS14075.1, CCDS63510.1	22q13	2005-08-11	2005-08-11	2005-08-11	ENSG00000100416	ENSG00000100416	2.1.1.61		25481	protein-coding gene	gene with protein product		610230	"""tRNA (5-methylaminomethyl-2-thiouridylate)-methyltransferase """	TRMT		14746906	Standard	XM_005261678		Approved	FLJ10140, MTO2	uc003bhp.3	O75648	OTTHUMG00000150424	ENST00000290846.4:c.846G>T	22.37:g.46749737G>T	ENSP00000290846:p.Lys282Asn					TRMU_ENST00000381019.3_Missense_Mutation_p.K282N	p.K282N	NM_018006.4	NP_060476.2	O75648	MTU1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00449)|LUAD - Lung adenocarcinoma(64;0.248)	8	1186	+		Ovarian(80;0.00965)|Breast(42;0.0194)|all_neural(38;0.0416)	282					A8K3U7|Q05C99|Q5W9C8|Q66K31|Q6ICC3|Q9NWC1	Missense_Mutation	SNP	ENST00000290846.4	37	c.846G>T	CCDS14075.1	.	.	.	.	.	.	.	.	.	.	G	15.52	2.858669	0.51376	.	.	ENSG00000100416	ENST00000290846;ENST00000381019	T;T	0.75477	-0.94;-0.94	4.99	3.97	0.46021	Adenine nucleotide alpha hydrolase-like domains (1);	0.000000	0.85682	D	0.000000	D	0.87869	0.6286	H	0.97131	3.945	0.80722	D	1	D;D;D;D;D	0.69078	0.995;0.997;0.985;0.982;0.986	P;P;P;P;D	0.68192	0.899;0.903;0.842;0.718;0.956	D	0.88317	0.2960	10	0.87932	D	0	-16.1787	5.0631	0.14568	0.3061:0.0:0.6939:0.0	.	282;128;128;282;282	B4DHM1;O75648-3;O75648-4;O75648-2;O75648	.;.;.;.;MTU1_HUMAN	N	282	ENSP00000290846:K282N;ENSP00000370407:K282N	ENSP00000290846:K282N	K	+	3	2	TRMU	45128401	1.000000	0.71417	1.000000	0.80357	0.070000	0.16714	3.564000	0.53791	2.294000	0.77228	0.650000	0.86243	AAG		0.582	TRMU-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318042.2	NM_018006		22	58	1	0	3.6726e-16	1	4.31162e-16	22	58				
CDO1	1036	broad.mit.edu	37	5	115146921	115146921	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr5:115146921A>T	ENST00000250535.4	-	3	896	c.340T>A	c.(340-342)Tcc>Acc	p.S114T	CDO1_ENST00000502631.1_5'UTR	NM_001801.2	NP_001792.2	Q16878	CDO1_HUMAN	cysteine dioxygenase type 1	114					cellular nitrogen compound metabolic process (GO:0034641)|cysteine metabolic process (GO:0006534)|inflammatory response (GO:0006954)|L-cysteine catabolic process (GO:0019448)|lactation (GO:0007595)|oxidation-reduction process (GO:0055114)|response to amino acid (GO:0043200)|response to cAMP (GO:0051591)|response to ethanol (GO:0045471)|response to glucagon (GO:0033762)|response to glucocorticoid (GO:0051384)|small molecule metabolic process (GO:0044281)|sulfur amino acid biosynthetic process (GO:0000097)|sulfur amino acid catabolic process (GO:0000098)|sulfur amino acid metabolic process (GO:0000096)|taurine biosynthetic process (GO:0042412)	cytosol (GO:0005829)	cysteine dioxygenase activity (GO:0017172)|ferrous iron binding (GO:0008198)			breast(1)|endometrium(1)|large_intestine(3)|lung(1)|skin(5)	11		all_cancers(142;0.0046)|all_epithelial(76;0.000161)|Prostate(80;0.0132)|Ovarian(225;0.0776)		OV - Ovarian serous cystadenocarcinoma(64;7.8e-08)|Epithelial(69;7.32e-07)|all cancers(49;3.24e-05)	L-Cysteine(DB00151)	ATCTCATTGGATTTTTTGTCA	0.403																																						ENST00000250535.4																			0				breast(1)|endometrium(1)|large_intestine(3)|lung(1)|skin(5)	11						c.(340-342)Tcc>Acc		cysteine dioxygenase type 1	L-Cysteine(DB00151)|NADH(DB00157)						234.0	227.0	229.0					5																	115146921		2202	4300	6502	SO:0001583	missense	1036				inflammatory response|sulfur amino acid biosynthetic process|taurine biosynthetic process	cytosol	cysteine dioxygenase activity	g.chr5:115146921A>T		CCDS4121.1	5q23.2	2013-06-11	2013-06-11		ENSG00000129596	ENSG00000129596	1.13.11.20		1795	protein-coding gene	gene with protein product		603943	"""cysteine dioxygenase, type I"""			7524679	Standard	NM_001801		Approved		uc003krg.3	Q16878	OTTHUMG00000128891	ENST00000250535.4:c.340T>A	5.37:g.115146921A>T	ENSP00000250535:p.Ser114Thr					CDO1_ENST00000502631.1_5'UTR	p.S114T	NM_001801.2	NP_001792.2	Q16878	CDO1_HUMAN		OV - Ovarian serous cystadenocarcinoma(64;7.8e-08)|Epithelial(69;7.32e-07)|all cancers(49;3.24e-05)	3	896	-		all_cancers(142;0.0046)|all_epithelial(76;0.000161)|Prostate(80;0.0132)|Ovarian(225;0.0776)	114					B2RAK4|P78513|Q6FHZ8|Q8TB64	Missense_Mutation	SNP	ENST00000250535.4	37	c.340T>A	CCDS4121.1	.	.	.	.	.	.	.	.	.	.	A	9.732	1.162620	0.21538	.	.	ENSG00000129596	ENST00000250535	T	0.43688	0.94	5.79	1.99	0.26369	Cupin, RmlC-type (1);RmlC-like jelly roll fold (1);	0.752631	0.13949	N	0.351661	T	0.17789	0.0427	N	0.08118	0	0.23685	N	0.997112	B	0.02656	0.0	B	0.01281	0.0	T	0.27226	-1.0080	10	0.12766	T	0.61	-24.0527	4.496	0.11837	0.3717:0.4408:0.0716:0.1159	.	114	Q16878	CDO1_HUMAN	T	114	ENSP00000250535:S114T	ENSP00000250535:S114T	S	-	1	0	CDO1	115174820	0.965000	0.33210	0.866000	0.34008	0.978000	0.69477	0.925000	0.28791	0.108000	0.17862	-0.313000	0.08912	TCC		0.403	CDO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250853.2	NM_001801		56	145	0	0	0	1	0	56	145				
SETD1A	9739	broad.mit.edu	37	16	30982757	30982757	+	Silent	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr16:30982757C>T	ENST00000262519.8	+	13	3761	c.3075C>T	c.(3073-3075)ggC>ggT	p.G1025G		NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN	SET domain containing 1A	1025	Ser-rich. {ECO:0000255}.				histone H3-K4 methylation (GO:0051568)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	chromosome (GO:0005694)|histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)|Set1C/COMPASS complex (GO:0048188)	histone methyltransferase activity (H3-K4 specific) (GO:0042800)|nucleotide binding (GO:0000166)|RNA binding (GO:0003723)			NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						ACTCAGATGGCGAAAATGACA	0.552																																						ENST00000262519.8																			0				NS(2)|breast(2)|central_nervous_system(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(9)|lung(21)|ovary(3)|prostate(2)|skin(4)|upper_aerodigestive_tract(4)|urinary_tract(1)	59						c.(3073-3075)ggC>ggT		SET domain containing 1A							142.0	140.0	141.0					16																	30982757		2197	4300	6497	SO:0001819	synonymous_variant	9739				regulation of transcription, DNA-dependent|transcription, DNA-dependent	chromosome|nuclear speck|Set1C/COMPASS complex	histone-lysine N-methyltransferase activity|nucleotide binding|protein binding|RNA binding	g.chr16:30982757C>T	AB002337	CCDS32435.1	16p11.2	2013-02-12			ENSG00000099381	ENSG00000099381		"""Chromatin-modifying enzymes / K-methyltransferases"", ""RNA binding motif (RRM) containing"""	29010	protein-coding gene	gene with protein product		611052				9205841, 12670868	Standard	XM_005255723		Approved	KIAA0339, Set1, KMT2F	uc002ead.1	O15047	OTTHUMG00000150474	ENST00000262519.8:c.3075C>T	16.37:g.30982757C>T							p.G1025G	NM_014712.1	NP_055527.1	O15047	SET1A_HUMAN			13	3761	+			1025			Ser-rich.		A6NP62|Q6PIF3|Q8TAJ6	Silent	SNP	ENST00000262519.8	37	c.3075C>T	CCDS32435.1																																																																																				0.552	SETD1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318244.2	NM_014712		47	130	0	0	0	1	0	47	130				
DNM1P47	100216544	broad.mit.edu	37	15	102296086	102296086	+	RNA	SNP	C	C	A	rs112186824		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr15:102296086C>A	ENST00000561463.1	+	0	4132									DNM1 pseudogene 47																		CTCGTGGAGGCGTCGGCAGAG	0.607																																						ENST00000561463.1																			0																																																			100216544							g.chr15:102296086C>A	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102296086C>A														0	4132	+									RNA	SNP	ENST00000561463.1	37																																																																																						0.607	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		3	10	1	0	0.115264	1	0.11602	3	10				
B3GNT6	192134	broad.mit.edu	37	11	76750627	76750627	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:76750627C>T	ENST00000533140.1	+	2	170	c.32C>T	c.(31-33)gCc>gTc	p.A11V	B3GNT6_ENST00000421061.1_Missense_Mutation_p.A11V|B3GNT6_ENST00000354301.5_Missense_Mutation_p.A11V			O43505	B3GN1_HUMAN	UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 (core 3 synthase)	0					axon guidance (GO:0007411)|carbohydrate metabolic process (GO:0005975)|glycosaminoglycan metabolic process (GO:0030203)|keratan sulfate biosynthetic process (GO:0018146)|keratan sulfate metabolic process (GO:0042339)|poly-N-acetyllactosamine biosynthetic process (GO:0030311)|protein glycosylation (GO:0006486)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|integral component of Golgi membrane (GO:0030173)	N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransferase activity (GO:0008532)			central_nervous_system(1)|kidney(2)|lung(4)|prostate(1)	8						TCCCTGACTGCCAAGACTCTG	0.642											OREG0021252	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000533140.1																			0				central_nervous_system(1)|kidney(2)|lung(4)|prostate(1)	8						c.(31-33)gCc>gTc		UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 6 (core 3 synthase)							92.0	97.0	96.0					11																	76750627		2012	4169	6181	SO:0001583	missense	192134				O-glycan processing, core 3	Golgi membrane|integral to membrane	beta-1,3-galactosyl-O-glycosyl-glycoprotein beta-1,3-N-acetylglucosaminyltransferase activity|galactosyltransferase activity	g.chr11:76750627C>T	AB073740	CCDS53681.1	11q13.4	2013-02-19			ENSG00000198488	ENSG00000198488		"""Beta 3-glycosyltransferases"""	24141	protein-coding gene	gene with protein product		615315				11821425	Standard	NM_138706		Approved	B3Gn-T6	uc021qnp.1	Q6ZMB0		ENST00000533140.1:c.32C>T	11.37:g.76750627C>T	ENSP00000435352:p.Ala11Val		OREG0021252	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1170	B3GNT6_ENST00000421061.1_Missense_Mutation_p.A11V|B3GNT6_ENST00000354301.5_Missense_Mutation_p.A11V	p.A11V			Q6ZMB0	B3GN6_HUMAN			2	170	+			11					Q4TTN0	Missense_Mutation	SNP	ENST00000533140.1	37	c.32C>T	CCDS53681.1	.	.	.	.	.	.	.	.	.	.	C	14.52	2.560922	0.45590	.	.	ENSG00000198488	ENST00000533140;ENST00000354301;ENST00000528622;ENST00000421061	T;T;T	0.27402	1.67;1.67;2.6	2.92	-4.57	0.03421	.	2.665200	0.02041	U	0.049291	T	0.12220	0.0297	N	0.08118	0	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.29549	-1.0008	10	0.02654	T	1	.	5.6698	0.17715	0.0:0.2589:0.1567:0.5844	.	11	Q6ZMB0	B3GN6_HUMAN	V	11	ENSP00000435352:A11V;ENSP00000346256:A11V;ENSP00000403463:A11V	ENSP00000346256:A11V	A	+	2	0	B3GNT6	76428275	0.000000	0.05858	0.000000	0.03702	0.222000	0.24845	-1.306000	0.02735	-1.245000	0.02513	-0.459000	0.05422	GCC		0.642	B3GNT6-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000382740.2	NM_138706		59	158	0	0	0	1	0	59	158				
PRDM1	639	broad.mit.edu	37	6	106553159	106553159	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr6:106553159C>T	ENST00000369096.4	+	5	1358	c.1124C>T	c.(1123-1125)gCt>gTt	p.A375V	PRDM1_ENST00000369089.3_Missense_Mutation_p.A241V|PRDM1_ENST00000369091.2_Missense_Mutation_p.A339V	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN	PR domain containing 1, with ZNF domain	375					cell fate commitment (GO:0045165)|eye photoreceptor cell development (GO:0042462)|germ cell development (GO:0007281)|intestinal epithelial cell development (GO:0060576)|maternal placenta development (GO:0001893)|negative regulation of B cell proliferation (GO:0030889)|negative regulation of lipopolysaccharide-mediated signaling pathway (GO:0031665)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of B cell differentiation (GO:0045579)|positive regulation of gene expression (GO:0010628)|post-embryonic development (GO:0009791)|transcription, DNA-templated (GO:0006351)|trophoblast giant cell differentiation (GO:0060707)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	metal ion binding (GO:0046872)|methyltransferase activity (GO:0008168)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)		GACTCCTACGCTTACTTGAAC	0.642			"""D, N, Mis, F, S"""		DLBCL																																	ENST00000369096.4				Rec	yes		6	6q21	639	"""D, N, Mis, F, S"""	"""PR domain containing 1, with ZNF domain"""			L			DLBCL		0				NS(1)|breast(4)|endometrium(5)|haematopoietic_and_lymphoid_tissue(59)|kidney(1)|large_intestine(6)|lung(10)|ovary(1)|skin(5)|urinary_tract(2)	94						c.(1123-1125)gCt>gTt		PR domain containing 1, with ZNF domain							79.0	69.0	72.0					6																	106553159		2203	4300	6503	SO:0001583	missense	639				negative regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr6:106553159C>T		CCDS5054.2, CCDS34505.1	6q21	2013-01-08			ENSG00000057657	ENSG00000057657		"""Zinc fingers, C2H2-type"""	9346	protein-coding gene	gene with protein product		603423		BLIMP1		1851123	Standard	NM_001198		Approved	PRDI-BF1	uc003prd.2	O75626	OTTHUMG00000015299	ENST00000369096.4:c.1124C>T	6.37:g.106553159C>T	ENSP00000358092:p.Ala375Val					PRDM1_ENST00000369091.2_Missense_Mutation_p.A339V|PRDM1_ENST00000369089.3_Missense_Mutation_p.A241V	p.A375V	NM_001198.3	NP_001189.2	O75626	PRDM1_HUMAN		all cancers(137;1.83e-46)|Epithelial(106;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(136;1.99e-20)|GBM - Glioblastoma multiforme(226;3.72e-11)|BRCA - Breast invasive adenocarcinoma(108;1.38e-05)	5	1358	+	Breast(9;0.022)	all_cancers(87;2.2e-31)|all_epithelial(87;2.03e-21)|Acute lymphoblastic leukemia(125;4.99e-11)|all_lung(197;7.55e-09)|all_hematologic(75;5.82e-08)|Lung NSC(302;1.28e-06)|Colorectal(196;0.0112)|Ovarian(999;0.0365)	375					B2REA6|E1P5E0|Q86WM7	Missense_Mutation	SNP	ENST00000369096.4	37	c.1124C>T	CCDS5054.2	.	.	.	.	.	.	.	.	.	.	C	12.28	1.889870	0.33348	.	.	ENSG00000057657	ENST00000369091;ENST00000369096;ENST00000456278;ENST00000369089	T;T;T	0.44482	0.92;0.92;0.92	5.29	4.42	0.53409	.	1.631490	0.03185	N	0.172652	T	0.20861	0.0502	L	0.36672	1.1	0.09310	N	1	B;B	0.25351	0.025;0.124	B;B	0.17979	0.015;0.02	T	0.40059	-0.9583	10	0.32370	T	0.25	-0.2398	15.9264	0.79621	0.0:0.8644:0.1356:0.0	.	241;375	Q86WM7;O75626	.;PRDM1_HUMAN	V	339;375;339;241	ENSP00000358087:A339V;ENSP00000358092:A375V;ENSP00000358085:A241V	ENSP00000358085:A241V	A	+	2	0	PRDM1	106659852	0.020000	0.18652	0.038000	0.18304	0.582000	0.36321	2.716000	0.47219	1.228000	0.43614	0.655000	0.94253	GCT		0.642	PRDM1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041661.3			27	63	0	0	0	1	0	27	63				
SLC39A12	221074	broad.mit.edu	37	10	18276463	18276463	+	Silent	SNP	G	G	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr10:18276463G>T	ENST00000377369.2	+	7	1425	c.1152G>T	c.(1150-1152)ggG>ggT	p.G384G	SLC39A12_ENST00000539911.1_Silent_p.G250G|SLC39A12_ENST00000377371.3_Silent_p.G384G|SLC39A12_ENST00000377374.4_Silent_p.G384G	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	384					regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						CCATGCTGGGGACAGCGCTGG	0.562																																						ENST00000377369.2																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(1150-1152)ggG>ggT		solute carrier family 39 (zinc transporter), member 12							149.0	114.0	126.0					10																	18276463		2203	4300	6503	SO:0001819	synonymous_variant	221074				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr10:18276463G>T		CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"""Solute carriers"""	20860	protein-coding gene	gene with protein product		608734	"""solute carrier family 39 (metal ion transporter), member 12"""			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377369.2:c.1152G>T	10.37:g.18276463G>T						SLC39A12_ENST00000377374.4_Silent_p.G384G|SLC39A12_ENST00000539911.1_Silent_p.G250G|SLC39A12_ENST00000377371.3_Silent_p.G384G	p.G384G	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN			7	1425	+			384					B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Silent	SNP	ENST00000377369.2	37	c.1152G>T	CCDS44362.1																																																																																				0.562	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_152725		31	22	1	0	1.08312e-15	1	1.25954e-15	31	22				
FMO1	2326	broad.mit.edu	37	1	171254589	171254589	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:171254589G>A	ENST00000354841.4	+	8	1636	c.1505G>A	c.(1504-1506)cGa>cAa	p.R502Q	FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000367750.3_Missense_Mutation_p.R502Q|FMO1_ENST00000402921.2_Missense_Mutation_p.R439Q	NM_001282692.1	NP_001269621.1	Q01740	FMO1_HUMAN	flavin containing monooxygenase 1	502					NADPH oxidation (GO:0070995)|organic acid metabolic process (GO:0006082)|small molecule metabolic process (GO:0044281)|toxin metabolic process (GO:0009404)|xenobiotic metabolic process (GO:0006805)	endoplasmic reticulum lumen (GO:0005788)|integral component of membrane (GO:0016021)	flavin adenine dinucleotide binding (GO:0050660)|monooxygenase activity (GO:0004497)|N,N-dimethylaniline monooxygenase activity (GO:0004499)|NADP binding (GO:0050661)	p.R502Q(1)		NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)				Cevimeline(DB00185)|Cimetidine(DB00501)|Lorcaserin(DB04871)|Tamoxifen(DB00675)|Vandetanib(DB05294)|Voriconazole(DB00582)	ATCAAAGCTCGAGTTGTACAA	0.433																																						ENST00000354841.4																			1	Substitution - Missense(1)	p.R502Q(1)	skin(1)	NS(1)|breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(4)|lung(13)|prostate(2)|skin(2)	27						c.(1504-1506)cGa>cAa		flavin containing monooxygenase 1							93.0	92.0	92.0					1																	171254589		2203	4300	6503	SO:0001583	missense	2326				NADPH oxidation|organic acid metabolic process|toxin metabolic process|xenobiotic metabolic process	endoplasmic reticulum lumen|integral to membrane|intrinsic to endoplasmic reticulum membrane|microsome	flavin adenine dinucleotide binding|flavin-containing monooxygenase activity|NADP binding	g.chr1:171254589G>A	M64082	CCDS1294.1, CCDS60351.1	1q24.3	2011-08-04			ENSG00000010932	ENSG00000010932	1.14.13.8		3769	protein-coding gene	gene with protein product		136130					Standard	XM_005245037		Approved		uc001ghl.3	Q01740	OTTHUMG00000035502	ENST00000354841.4:c.1505G>A	1.37:g.171254589G>A	ENSP00000346901:p.Arg502Gln					FMO1_ENST00000469112.1_3'UTR|FMO1_ENST00000402921.2_Missense_Mutation_p.R439Q|FMO1_ENST00000367750.3_Missense_Mutation_p.R502Q	p.R502Q			Q01740	FMO1_HUMAN			8	1636	+	all_hematologic(923;0.0922)|Acute lymphoblastic leukemia(37;0.181)		502					A8K248|B7Z3P4|Q5QPT2|Q9UJC2	Missense_Mutation	SNP	ENST00000354841.4	37	c.1505G>A	CCDS1294.1	.	.	.	.	.	.	.	.	.	.	G	19.35	3.809986	0.70797	.	.	ENSG00000010932	ENST00000367750;ENST00000402921;ENST00000354841	T;T;T	0.62941	-0.01;-0.01;-0.01	5.61	5.61	0.85477	.	0.000000	0.85682	D	0.000000	T	0.81216	0.4776	M	0.89353	3.025	0.58432	D	0.999995	D;D	0.89917	1.0;1.0	D;D	0.91635	0.999;0.999	D	0.84279	0.0493	10	0.87932	D	0	-11.9213	19.217	0.93782	0.0:0.0:1.0:0.0	.	439;502	B7Z3P4;Q01740	.;FMO1_HUMAN	Q	502;439;502	ENSP00000356724:R502Q;ENSP00000385543:R439Q;ENSP00000346901:R502Q	ENSP00000346901:R502Q	R	+	2	0	FMO1	169521213	0.991000	0.36638	0.513000	0.27749	0.024000	0.10985	5.912000	0.69948	2.634000	0.89283	0.557000	0.71058	CGA		0.433	FMO1-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000086212.1	NM_002021		18	27	0	0	0	1	0	18	27				
ABCC10	89845	broad.mit.edu	37	6	43400649	43400649	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr6:43400649G>T	ENST00000372530.4	+	3	1146	c.931G>T	c.(931-933)Ggc>Tgc	p.G311C	ABCC10_ENST00000244533.3_Missense_Mutation_p.G268C|ABCC10_ENST00000443426.2_Intron	NM_001198934.1	NP_001185863.1	Q5T3U5	MRP7_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 10	311	ABC transmembrane type-1 1. {ECO:0000255|PROSITE-ProRule:PRU00441}.				transmembrane transport (GO:0055085)	integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56	all_lung(25;0.00536)		Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		Cyclosporine(DB00091)|Cytarabine(DB00987)|Daunorubicin(DB00694)|Docetaxel(DB01248)|Doxorubicin(DB00997)|Estradiol(DB00783)|Etoposide(DB00773)|Gemcitabine(DB00441)|Methotrexate(DB00563)|Paclitaxel(DB01229)|Sildenafil(DB00203)|Tenofovir(DB00300)|Verapamil(DB00661)|Vincristine(DB00541)	CCTACTGGTGGGCTTCCTGGA	0.612																																						ENST00000244533.3																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(6)|kidney(4)|large_intestine(8)|lung(21)|ovary(7)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	56						c.(802-804)Ggc>Tgc		ATP-binding cassette, sub-family C (CFTR/MRP), member 10							48.0	52.0	50.0					6																	43400649		2203	4300	6503	SO:0001583	missense	89845					integral to membrane|plasma membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr6:43400649G>T	U66684	CCDS4896.1, CCDS56430.1	6p12.3	2012-03-14			ENSG00000124574	ENSG00000124574		"""ATP binding cassette transporters / subfamily C"""	52	protein-coding gene	gene with protein product		612509				8894702	Standard	NM_033450		Approved	EST182763, MRP7, SIMRP7	uc003ouy.1	Q5T3U5	OTTHUMG00000014733	ENST00000372530.4:c.931G>T	6.37:g.43400649G>T	ENSP00000361608:p.Gly311Cys					ABCC10_ENST00000372530.4_Missense_Mutation_p.G311C|ABCC10_ENST00000443426.2_Intron	p.G268C	NM_033450.2	NP_258261.2	Q5T3U5	MRP7_HUMAN	Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|all cancers(41;0.0152)|OV - Ovarian serous cystadenocarcinoma(102;0.0804)		1	1161	+	all_lung(25;0.00536)		311					Q8NHX7|Q9H7N2|Q9NXY3|Q9UF48	Missense_Mutation	SNP	ENST00000372530.4	37	c.802G>T	CCDS56430.1	.	.	.	.	.	.	.	.	.	.	G	14.98	2.698406	0.48307	.	.	ENSG00000124574	ENST00000372530;ENST00000244533	D;D	0.91996	-2.95;-2.95	5.44	4.53	0.55603	ABC transporter, transmembrane domain, type 1 (1);ABC transporter, integral membrane type 1 (1);ABC transporter, transmembrane domain (1);	0.264674	0.40385	N	0.001115	D	0.92143	0.7509	M	0.67700	2.07	0.41418	D	0.987781	D;D	0.76494	0.997;0.999	D;D	0.66847	0.927;0.947	D	0.92058	0.5654	10	0.56958	D	0.05	-3.4549	6.4399	0.21845	0.3379:0.0:0.6621:0.0	.	268;311	Q5T3U5-2;Q5T3U5	.;MRP7_HUMAN	C	311;268	ENSP00000361608:G311C;ENSP00000244533:G268C	ENSP00000244533:G268C	G	+	1	0	ABCC10	43508627	1.000000	0.71417	1.000000	0.80357	0.727000	0.41649	0.898000	0.28404	1.207000	0.43291	-0.367000	0.07326	GGC		0.612	ABCC10-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040603.2	NM_033450		25	56	1	0	2.39556e-15	1	2.77001e-15	25	56				
MEGF8	1954	broad.mit.edu	37	19	42848890	42848890	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:42848890G>T	ENST00000251268.6	+	12	2002	c.2002G>T	c.(2002-2004)Gtc>Ttc	p.V668F	MEGF8_ENST00000334370.4_Missense_Mutation_p.V668F	NM_001271938.1	NP_001258867.1	Q7Z7M0	MEGF8_HUMAN	multiple EGF-like-domains 8	668					BMP signaling pathway (GO:0030509)|cell migration involved in gastrulation (GO:0042074)|craniofacial suture morphogenesis (GO:0097094)|determination of digestive tract left/right asymmetry (GO:0071907)|determination of heart left/right asymmetry (GO:0061371)|embryonic heart tube left/right pattern formation (GO:0060971)|embryonic heart tube morphogenesis (GO:0003143)|embryonic limb morphogenesis (GO:0030326)|embryonic skeletal system morphogenesis (GO:0048704)|epiboly involved in gastrulation with mouth forming second (GO:0055113)|fasciculation of sensory neuron axon (GO:0097155)|left/right pattern formation (GO:0060972)|limb morphogenesis (GO:0035108)|positive regulation of axon extension involved in axon guidance (GO:0048842)|regulation of gene expression (GO:0010468)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)	calcium ion binding (GO:0005509)|receptor activity (GO:0004872)			breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50		Prostate(69;0.00682)				GCCTGTCTTCGTCACGTCCCT	0.677																																						ENST00000334370.4																			0				breast(2)|cervix(1)|endometrium(11)|kidney(2)|large_intestine(9)|lung(20)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(2002-2004)Gtc>Ttc		multiple EGF-like-domains 8							66.0	66.0	66.0					19																	42848890		2203	4300	6503	SO:0001583	missense	1954					integral to membrane	calcium ion binding|structural molecule activity	g.chr19:42848890G>T	AB011541	CCDS12604.2, CCDS62693.1	19q13.2	2011-11-24	2006-03-31	2006-03-31	ENSG00000105429	ENSG00000105429			3233	protein-coding gene	gene with protein product	"""HBV pre s2 binding protein 1"""	604267	"""EGF-like-domain, multiple 4"", ""chromosome 19 open reading frame 49"""	EGFL4, C19orf49		9693030	Standard	NM_001410		Approved	SBP1, FLJ22365	uc002otm.5	Q7Z7M0	OTTHUMG00000150342	ENST00000251268.6:c.2002G>T	19.37:g.42848890G>T	ENSP00000251268:p.Val668Phe					MEGF8_ENST00000251268.6_Missense_Mutation_p.V668F	p.V668F	NM_001410.2	NP_001401.2	Q7Z7M0	MEGF8_HUMAN			12	2637	+		Prostate(69;0.00682)	718					A8KAY0|O75097	Missense_Mutation	SNP	ENST00000251268.6	37	c.2002G>T		.	.	.	.	.	.	.	.	.	.	G	19.25	3.791626	0.70452	.	.	ENSG00000105429	ENST00000334370;ENST00000251268	T;T	0.24350	1.92;1.86	4.93	4.93	0.64822	.	0.094480	0.44902	D	0.000411	T	0.26919	0.0659	N	0.24115	0.695	0.80722	D	1	D;D	0.57257	0.979;0.97	B;P	0.54664	0.446;0.758	T	0.02009	-1.1230	10	0.56958	D	0.05	-21.9097	9.3093	0.37893	0.0988:0.0:0.9012:0.0	.	668;668	Q7Z7M0;Q7Z7M0-2	MEGF8_HUMAN;.	F	668	ENSP00000334219:V668F;ENSP00000251268:V668F	ENSP00000251268:V668F	V	+	1	0	MEGF8	47540730	1.000000	0.71417	1.000000	0.80357	0.956000	0.61745	3.492000	0.53259	2.288000	0.76882	0.457000	0.33378	GTC		0.677	MEGF8-002	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000463854.1	NM_001410		22	64	1	0	1.10923e-09	1	1.21837e-09	22	64				
GON4L	54856	broad.mit.edu	37	1	155796641	155796641	+	Silent	SNP	G	G	A	rs371195008		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:155796641G>A	ENST00000368331.1	-	3	732	c.684C>T	c.(682-684)ctC>ctT	p.L228L	GON4L_ENST00000361040.5_Silent_p.L228L|GON4L_ENST00000437809.1_Silent_p.L228L|GON4L_ENST00000271883.5_Silent_p.L228L|GON4L_ENST00000471341.1_5'UTR	NM_001282858.1|NM_001282860.1	NP_001269787.1|NP_001269789.1	Q3T8J9	GON4L_HUMAN	gon-4-like (C. elegans)	228					regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)					TTGGAATGAAGAGTCCACCAT	0.398																																						ENST00000437809.1																			0				NS(2)|breast(4)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(7)|lung(10)|ovary(3)|prostate(3)|skin(2)|stomach(1)|urinary_tract(1)	45						c.(682-684)ctC>ctT		gon-4-like (C. elegans)		G	,	1,4405		0,1,2202	103.0	101.0	101.0		684,684	3.7	1.0	1		101	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	GON4L	NM_001037533.1,NM_032292.4	,	0,1,6502	AA,AG,GG		0.0,0.0227,0.0077	,	228/2241,228/1530	155796641	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	54856				regulation of transcription, DNA-dependent	cytoplasm|nucleus	DNA binding	g.chr1:155796641G>A	AB046826	CCDS1121.1, CCDS44242.1, CCDS60296.1	1q22	2013-10-31	2006-11-08	2006-02-16	ENSG00000116580	ENSG00000116580			25973	protein-coding gene	gene with protein product		610393	"""gon-4 homolog (C.elegans)"""	GON4		16545939, 21454521	Standard	XM_005245283		Approved	FLJ20203, GON-4	uc001fly.1	Q3T8J9	OTTHUMG00000014106	ENST00000368331.1:c.684C>T	1.37:g.155796641G>A						GON4L_ENST00000271883.5_Silent_p.L228L|GON4L_ENST00000361040.5_Silent_p.L228L|GON4L_ENST00000368331.1_Silent_p.L228L|GON4L_ENST00000471341.1_5'UTR	p.L228L			Q3T8J9	GON4L_HUMAN			3	806	-	Hepatocellular(266;0.0997)|all_hematologic(923;0.145)|all_neural(408;0.195)		228					B7ZBL4|Q14C93|Q3T8J8|Q5VYZ5|Q5W0D5|Q6AWA6|Q6P1Q6|Q7Z3L3|Q8IY79|Q9BQI1|Q9HCG6	Silent	SNP	ENST00000368331.1	37	c.684C>T																																																																																					0.398	GON4L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_032292		23	56	0	0	0	1	0	23	56				
MS4A15	219995	broad.mit.edu	37	11	60541334	60541334	+	Missense_Mutation	SNP	G	G	A	rs200402929		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:60541334G>A	ENST00000405633.3	+	6	602	c.523G>A	c.(523-525)Gtg>Atg	p.V175M	MS4A15_ENST00000337911.4_Missense_Mutation_p.V82M|MS4A15_ENST00000528170.1_Missense_Mutation_p.V134M	NM_001098835.1	NP_001092305.1	Q8N5U1	M4A15_HUMAN	membrane-spanning 4-domains, subfamily A, member 15	175						integral component of membrane (GO:0016021)		p.V82M(1)		breast(1)|large_intestine(2)|lung(3)	6						CTATCTGGCCGTGCTTACTAT	0.577																																						ENST00000405633.3																			1	Substitution - Missense(1)	p.V82M(1)	large_intestine(1)	breast(1)|large_intestine(2)|lung(3)	6						c.(523-525)Gtg>Atg		membrane-spanning 4-domains, subfamily A, member 15							247.0	192.0	210.0					11																	60541334		2203	4300	6503	SO:0001583	missense	219995					integral to membrane	receptor activity	g.chr11:60541334G>A	AY584608	CCDS7991.1, CCDS44617.1, CCDS60802.1	11q12.2	2008-03-25							28573	protein-coding gene	gene with protein product							Standard	NM_001098835		Approved		uc009ynf.1	Q8N5U1		ENST00000405633.3:c.523G>A	11.37:g.60541334G>A	ENSP00000386022:p.Val175Met					MS4A15_ENST00000337911.4_Missense_Mutation_p.V82M|MS4A15_ENST00000528170.1_Missense_Mutation_p.V134M	p.V175M	NM_001098835.1	NP_001092305.1	Q8N5U1	M4A15_HUMAN			6	602	+			175					A9UJY6|A9UJY7|F2Z2J5	Missense_Mutation	SNP	ENST00000405633.3	37	c.523G>A	CCDS44617.1	.	.	.	.	.	.	.	.	.	.	G	12.36	1.913197	0.33815	.	.	ENSG00000166961	ENST00000528170;ENST00000337911;ENST00000405633	T;T;T	0.19250	2.19;2.16;2.48	4.83	4.83	0.62350	.	0.132904	0.49305	D	0.000143	T	0.40196	0.1107	M	0.62016	1.91	0.37912	D	0.931418	D;D	0.89917	0.959;1.0	B;D	0.80764	0.362;0.994	T	0.27571	-1.0070	10	0.20519	T	0.43	-25.2779	13.4224	0.61005	0.0:0.0:1.0:0.0	.	134;175	F2Z2J5;Q8N5U1	.;M4A15_HUMAN	M	134;82;175	ENSP00000434165:V134M;ENSP00000338692:V82M;ENSP00000386022:V175M	ENSP00000338692:V82M	V	+	1	0	MS4A15	60297910	0.960000	0.32886	0.981000	0.43875	0.074000	0.17049	1.506000	0.35747	2.243000	0.73865	0.555000	0.69702	GTG		0.577	MS4A15-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000395618.1			48	99	0	0	0	1	0	48	99				
TTC39B	158219	broad.mit.edu	37	9	15172092	15172092	+	Silent	SNP	A	A	G	rs140541523	byFrequency	TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr9:15172092A>G	ENST00000512701.2	-	20	2010	c.1974T>C	c.(1972-1974)gaT>gaC	p.D658D	TTC39B_ENST00000355694.2_Silent_p.D592D|TTC39B_ENST00000507285.1_Silent_p.D493D|TTC39B_ENST00000297615.5_Silent_p.D589D|TTC39B_ENST00000507993.1_Silent_p.D493D|TTC39B_ENST00000380850.4_Silent_p.D645D			Q5VTQ0	TT39B_HUMAN	tetratricopeptide repeat domain 39B	658										NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						CCAGGGAGTAATCTTTGTAGT	0.398													A|||	5	0.000998403	0.0	0.0	5008	,	,		17062	0.0		0.002	False		,,,				2504	0.0031					ENST00000355694.2																			0				NS(1)|breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(7)|ovary(2)|prostate(1)	21						c.(1774-1776)gaT>gaC		tetratricopeptide repeat domain 39B		A	,,,,	0,4406		0,0,2203	84.0	82.0	83.0		1968,1935,1767,1479,1974	3.0	1.0	9	dbSNP_134	83	10,8590	7.7+/-29.5	0,10,4290	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	TTC39B	NM_001168339.1,NM_001168340.1,NM_001168341.1,NM_001168342.1,NM_152574.2	,,,,	0,10,6493	GG,GA,AA		0.1163,0.0,0.0769	,,,,	656/681,645/670,589/614,493/518,658/683	15172092	10,12996	2203	4300	6503	SO:0001819	synonymous_variant	158219						binding	g.chr9:15172092A>G	AK091187	CCDS6477.1, CCDS6477.2, CCDS55294.1, CCDS55295.1, CCDS55296.1	9p22.2	2013-01-11	2008-06-23	2008-06-23	ENSG00000155158	ENSG00000155158		"""Tetratricopeptide (TTC) repeat domain containing"""	23704	protein-coding gene	gene with protein product		613574	"""chromosome 9 open reading frame 52"""	C9orf52			Standard	NM_001168339		Approved	FLJ33868	uc003zlr.2	Q5VTQ0	OTTHUMG00000019581	ENST00000512701.2:c.1974T>C	9.37:g.15172092A>G						TTC39B_ENST00000380850.4_Silent_p.D645D|TTC39B_ENST00000512701.1_Silent_p.D658D|TTC39B_ENST00000507993.1_Silent_p.D493D|TTC39B_ENST00000507285.1_Silent_p.D493D|TTC39B_ENST00000297615.5_Silent_p.D589D	p.D592D	NM_001168339.1|NM_152574.2	NP_001161811.1|NP_689787.2	Q5VTQ0	TT39B_HUMAN			20	2010	-			592					A5PLN1|B4DQ10|B4DQX4|B4DW93|Q8IVR7|Q8IXZ6|Q8N267	Silent	SNP	ENST00000512701.2	37	c.1776T>C	CCDS6477.2																																																																																				0.398	TTC39B-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051758.3	NM_152574		25	39	0	0	0	1	0	25	39				
BRIP1	83990	broad.mit.edu	37	17	59934430	59934430	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:59934430G>A	ENST00000259008.2	-	4	635	c.368C>T	c.(367-369)tCa>tTa	p.S123L	BRIP1_ENST00000577598.1_Missense_Mutation_p.S123L	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN	BRCA1 interacting protein C-terminal helicase 1	123	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA damage checkpoint (GO:0000077)|DNA duplex unwinding (GO:0032508)|double-strand break repair (GO:0006302)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|small molecule metabolic process (GO:0044281)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)	4 iron, 4 sulfur cluster binding (GO:0051539)|ATP binding (GO:0005524)|ATP-dependent DNA helicase activity (GO:0004003)|DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						TTGACAAGTTGATGAAGTGCC	0.338			"""F, N, Mis"""			"""AML, leukemia, breast"""		Involved in tolerance or repair of DNA crosslinks																														ENST00000259008.2			yes	Rec		"""Fanconi anaemia J, breast cancer susceptiblity"""	17	17q22	83990	"""F, N, Mis"""	BRCA1 interacting protein C-terminal helicase 1			"""L, E"""		"""AML, leukemia, breast"""			0				NS(1)|breast(3)|endometrium(9)|kidney(5)|large_intestine(9)|liver(2)|lung(15)|ovary(1)|skin(2)|upper_aerodigestive_tract(2)|urinary_tract(6)	55						c.(367-369)tCa>tTa	Involved in tolerance or repair of DNA crosslinks	BRCA1 interacting protein C-terminal helicase 1							257.0	232.0	241.0					17																	59934430		2203	4300	6503	SO:0001583	missense	83990				DNA damage checkpoint|double-strand break repair|regulation of transcription from RNA polymerase II promoter	cytoplasm|nucleus	ATP binding|ATP-dependent DNA helicase activity|DNA binding|protein binding	g.chr17:59934430G>A	AF360549	CCDS11631.1	17q22.2	2014-09-17				ENSG00000136492		"""Fanconi anemia, complementation groups"""	20473	protein-coding gene	gene with protein product	"""BRCA1/BRCA2-associated helicase 1"""	605882				11595410, 11301010	Standard	NM_032043		Approved	OF, BACH1, FANCJ	uc002izk.2	Q9BX63		ENST00000259008.2:c.368C>T	17.37:g.59934430G>A	ENSP00000259008:p.Ser123Leu					BRIP1_ENST00000577598.1_Missense_Mutation_p.S123L	p.S123L	NM_032043.2	NP_114432.2	Q9BX63	FANCJ_HUMAN			4	635	-			123			Helicase ATP-binding.		Q3MJE2|Q8NCI5	Missense_Mutation	SNP	ENST00000259008.2	37	c.368C>T	CCDS11631.1	.	.	.	.	.	.	.	.	.	.	G	2.203	-0.382495	0.04966	.	.	ENSG00000136492	ENST00000259008	T	0.54866	0.55	5.24	4.27	0.50696	DEAD-like helicase (1);Helicase, superfamily 1/2, ATP-binding domain, DinG/Rad3-type (1);	0.807093	0.11552	N	0.552674	T	0.34193	0.0889	N	0.11560	0.145	0.09310	N	1	B	0.02656	0.0	B	0.04013	0.001	T	0.16958	-1.0385	9	.	.	.	-4.9698	13.2132	0.59836	0.085:0.0:0.915:0.0	.	123	Q9BX63	FANCJ_HUMAN	L	123	ENSP00000259008:S123L	.	S	-	2	0	BRIP1	57289212	0.081000	0.21417	0.006000	0.13384	0.014000	0.08584	1.232000	0.32636	0.712000	0.32039	-0.813000	0.03139	TCA		0.338	BRIP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000445362.1	NM_032043		38	104	0	0	0	1	0	38	104				
MX2	4600	broad.mit.edu	37	21	42767544	42767544	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr21:42767544G>T	ENST00000330714.3	+	7	1086	c.902G>T	c.(901-903)aGg>aTg	p.R301M	MX2_ENST00000543692.1_3'UTR|MX2_ENST00000496774.1_3'UTR	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN	MX dynamin-like GTPase 2	301	Dynamin-type G.				cytokine-mediated signaling pathway (GO:0019221)|defense response (GO:0006952)|defense response to virus (GO:0051607)|GTP catabolic process (GO:0006184)|mRNA transport (GO:0051028)|protein transport (GO:0015031)|regulation of cell cycle (GO:0051726)|regulation of nucleocytoplasmic transport (GO:0046822)|response to interferon-alpha (GO:0035455)|response to virus (GO:0009615)|type I interferon signaling pathway (GO:0060337)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nuclear pore (GO:0005643)|nucleus (GO:0005634)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)				CTAATGGACAGGGGCACTGAG	0.507																																						ENST00000330714.3																			0				breast(2)|endometrium(3)|large_intestine(6)|lung(12)|ovary(2)|prostate(3)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)	34						c.(901-903)aGg>aTg		myxovirus (influenza virus) resistance 2 (mouse)							124.0	100.0	108.0					21																	42767544		2203	4300	6503	SO:0001583	missense	4600				response to virus|type I interferon-mediated signaling pathway	cytoplasm|nucleus	GTP binding|GTPase activity	g.chr21:42767544G>T		CCDS13672.1	21q22.3	2014-07-15	2014-07-15		ENSG00000183486	ENSG00000183486			7533	protein-coding gene	gene with protein product	"""interferon-regulated resistance GTP-binding protein MXB"", ""second interferon-induced protein p78"""	147890	"""myxovirus (influenza) resistance 2, homolog of murine"", ""myxovirus (influenza virus) resistance 2 (mouse)"""			2481229, 8798556	Standard	NM_002463		Approved	MXB	uc002yzf.1	P20592	OTTHUMG00000086753	ENST00000330714.3:c.902G>T	21.37:g.42767544G>T	ENSP00000333657:p.Arg301Met					MX2_ENST00000543692.1_3'UTR|MX2_ENST00000496774.1_3'UTR	p.R301M	NM_002463.1	NP_002454.1	P20592	MX2_HUMAN			7	1086	+		Prostate(19;1.57e-07)|all_epithelial(19;0.0222)	301					B7Z5D3|D3DSI7	Missense_Mutation	SNP	ENST00000330714.3	37	c.902G>T	CCDS13672.1	.	.	.	.	.	.	.	.	.	.	G	10.70	1.424387	0.25639	.	.	ENSG00000183486	ENST00000330714	D	0.89810	-2.57	3.56	-2.76	0.05896	Dynamin, GTPase domain (1);	0.497496	0.22178	N	0.063559	D	0.93090	0.7800	M	0.89904	3.07	0.80722	D	1	D	0.67145	0.996	D	0.63033	0.91	D	0.91736	0.5400	10	0.87932	D	0	-6.284	10.1953	0.43051	0.3728:0.0:0.6272:0.0	.	301	P20592	MX2_HUMAN	M	301	ENSP00000333657:R301M	ENSP00000333657:R301M	R	+	2	0	MX2	41689414	0.075000	0.21258	0.633000	0.29310	0.013000	0.08279	-0.310000	0.08135	-0.451000	0.07097	-0.749000	0.03505	AGG		0.507	MX2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000195147.1	NM_002463		16	43	1	0	7.07596e-05	1	7.33892e-05	16	43				
NUP54	53371	broad.mit.edu	37	4	77057545	77057545	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr4:77057545G>A	ENST00000264883.3	-	4	456	c.316C>T	c.(316-318)Cag>Tag	p.Q106*	NUP54_ENST00000514987.1_Nonsense_Mutation_p.Q58*|NUP54_ENST00000342467.6_5'UTR|NUP54_ENST00000458189.2_Intron|NUP54_ENST00000515460.1_5'UTR	NM_017426.2	NP_059122.2	Q7Z3B4	NUP54_HUMAN	nucleoporin 54kDa	106	9 X 2 AA repeats of F-G.				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)|protein targeting (GO:0006605)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	cytoplasm (GO:0005737)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)|nucleoplasm (GO:0005654)	nucleocytoplasmic transporter activity (GO:0005487)			cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1)	19						TGTGTAGGCTGACTGAAGAGA	0.418																																						ENST00000264883.3																			0				cervix(1)|endometrium(1)|kidney(2)|large_intestine(4)|lung(5)|ovary(1)|prostate(3)|skin(1)|stomach(1)	19						c.(316-318)Cag>Tag		nucleoporin 54kDa							77.0	80.0	79.0					4																	77057545		2203	4300	6503	SO:0001587	stop_gained	53371				carbohydrate metabolic process|glucose transport|mRNA transport|regulation of glucose transport|transmembrane transport|viral reproduction	cytoplasm|nuclear membrane|nuclear pore|nucleoplasm		g.chr4:77057545G>A	AF157322	CCDS3576.1, CCDS63998.1	4q21.1	2008-07-03	2002-08-29		ENSG00000138750	ENSG00000138750			17359	protein-coding gene	gene with protein product		607607	"""nucleoporin 54kD"""			8707840	Standard	NM_017426		Approved		uc003hjs.3	Q7Z3B4	OTTHUMG00000130098	ENST00000264883.3:c.316C>T	4.37:g.77057545G>A	ENSP00000264883:p.Gln106*					NUP54_ENST00000514987.1_Nonsense_Mutation_p.Q58*|NUP54_ENST00000458189.2_Intron|NUP54_ENST00000342467.6_5'UTR|NUP54_ENST00000515460.1_5'UTR	p.Q106*	NM_017426.2	NP_059122.2	Q7Z3B4	NUP54_HUMAN			4	456	-			106			9 X 2 AA repeats of F-G.		B2RCK7|B4DT35|Q96EA7|Q9NVL5|Q9P0I1	Nonsense_Mutation	SNP	ENST00000264883.3	37	c.316C>T	CCDS3576.1	.	.	.	.	.	.	.	.	.	.	G	20.2	3.948820	0.73787	.	.	ENSG00000138750	ENST00000264883;ENST00000514987	.	.	.	5.39	4.51	0.55191	.	0.106321	0.64402	D	0.000003	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.46703	T	0.11	-6.8425	16.1605	0.81700	0.0:0.133:0.867:0.0	.	.	.	.	X	106;58	.	ENSP00000264883:Q106X	Q	-	1	0	NUP54	77276569	1.000000	0.71417	1.000000	0.80357	0.979000	0.70002	9.408000	0.97327	2.520000	0.84964	0.655000	0.94253	CAG		0.418	NUP54-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252402.3			18	54	0	0	0	1	0	18	54				
TNRC18	84629	broad.mit.edu	37	7	5353062	5353062	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:5353062G>A	ENST00000430969.1	-	27	7808	c.7460C>T	c.(7459-7461)cCg>cTg	p.P2487L	TNRC18_ENST00000399537.4_Missense_Mutation_p.P2487L	NM_001080495.2	NP_001073964.2	O15417	TNC18_HUMAN	trinucleotide repeat containing 18	2487							chromatin binding (GO:0003682)			central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11		Ovarian(82;0.142)		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)		CCCCGCCCCCGGATCCTCCCG	0.697																																						ENST00000399537.4																			0				central_nervous_system(1)|endometrium(1)|large_intestine(1)|lung(8)	11						c.(7459-7461)cCg>cTg		trinucleotide repeat containing 18							11.0	12.0	11.0					7																	5353062		1564	3574	5138	SO:0001583	missense	84629						DNA binding	g.chr7:5353062G>A	U80753	CCDS47534.1	7p22.1	2012-04-17			ENSG00000182095	ENSG00000182095		"""Trinucleotide (CAG) repeat containing"""	11962	protein-coding gene	gene with protein product						9225980	Standard	NM_001080495		Approved	CAGL79, TNRC18A, KIAA1856	uc003soi.4	O15417	OTTHUMG00000151831	ENST00000430969.1:c.7460C>T	7.37:g.5353062G>A	ENSP00000395538:p.Pro2487Leu					TNRC18_ENST00000430969.1_Missense_Mutation_p.P2487L	p.P2487L			O15417	TNC18_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.195)|OV - Ovarian serous cystadenocarcinoma(56;5.32e-15)	27	7808	-		Ovarian(82;0.142)	2487					A8MX41|Q96JH1|Q96K91	Missense_Mutation	SNP	ENST00000430969.1	37	c.7460C>T	CCDS47534.1	.	.	.	.	.	.	.	.	.	.	g	0.091	-1.167446	0.01660	.	.	ENSG00000182095	ENST00000399537;ENST00000430969	T;T	0.11169	2.81;2.8	4.89	4.0	0.46444	.	0.428900	0.17362	N	0.177020	T	0.09291	0.0229	L	0.44542	1.39	0.09310	N	1	B	0.22414	0.069	B	0.11329	0.006	T	0.33904	-0.9850	10	0.07482	T	0.82	.	12.9222	0.58239	0.0798:0.0:0.9202:0.0	.	2487	O15417	TNC18_HUMAN	L	2487	ENSP00000382452:P2487L;ENSP00000395538:P2487L	ENSP00000382452:P2487L	P	-	2	0	TNRC18	5319588	0.277000	0.24220	0.002000	0.10522	0.213000	0.24496	2.673000	0.46858	1.044000	0.40200	0.561000	0.74099	CCG		0.697	TNRC18-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding				9	20	0	0	0	1	0	9	20				
CFAP53	220136	broad.mit.edu	37	18	47753777	47753777	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr18:47753777C>T	ENST00000398545.4	-	8	1636	c.1519G>A	c.(1519-1521)Gca>Aca	p.A507T		NM_145020.3	NP_659457.2														endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20				STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)		CTGGGGCATGCCTTGCGCATG	0.438																																						ENST00000398545.4																			0				endometrium(1)|kidney(4)|large_intestine(6)|lung(6)|ovary(1)|pancreas(1)|skin(1)	20						c.(1519-1521)Gca>Aca		coiled-coil domain containing 11							168.0	171.0	170.0					18																	47753777		2028	4167	6195	SO:0001583	missense	220136							g.chr18:47753777C>T																												ENST00000398545.4:c.1519G>A	18.37:g.47753777C>T	ENSP00000381553:p.Ala507Thr						p.A507T	NM_145020.3	NP_659457.2	Q96M91	CCD11_HUMAN		STAD - Stomach adenocarcinoma(97;2.66e-05)|Colorectal(21;7.57e-05)|Lung(128;0.00932)|READ - Rectum adenocarcinoma(32;0.164)	8	1636	-			507						Missense_Mutation	SNP	ENST00000398545.4	37	c.1519G>A	CCDS11940.2	.	.	.	.	.	.	.	.	.	.	C	13.87	2.366298	0.41902	.	.	ENSG00000172361	ENST00000398545	T	0.30981	1.51	5.39	2.11	0.27256	.	0.957082	0.08687	N	0.908504	T	0.13286	0.0322	N	0.04508	-0.205	0.09310	N	1	B	0.14438	0.01	B	0.08055	0.003	T	0.29882	-0.9997	10	0.23302	T	0.38	0.0803	5.7609	0.18199	0.0:0.6293:0.0:0.3707	.	507	Q96M91	CCD11_HUMAN	T	507	ENSP00000381553:A507T	ENSP00000381553:A507T	A	-	1	0	CCDC11	46007775	0.010000	0.17322	0.007000	0.13788	0.160000	0.22226	0.164000	0.16542	0.759000	0.33084	0.655000	0.94253	GCA		0.438	CCDC11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000255922.3			25	15	0	0	0	1	0	25	15				
GUCY2D	3000	broad.mit.edu	37	17	7909801	7909801	+	Missense_Mutation	SNP	C	C	T	rs545271894		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:7909801C>T	ENST00000254854.4	+	4	1297	c.1147C>T	c.(1147-1149)Cgg>Tgg	p.R383W		NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN	guanylate cyclase 2D, membrane (retina-specific)	383					intracellular signal transduction (GO:0035556)|phototransduction, visible light (GO:0007603)|receptor guanylyl cyclase signaling pathway (GO:0007168)|regulation of rhodopsin mediated signaling pathway (GO:0022400)|rhodopsin mediated signaling pathway (GO:0016056)|visual perception (GO:0007601)	integral component of plasma membrane (GO:0005887)|nuclear outer membrane (GO:0005640)|photoreceptor disc membrane (GO:0097381)	ATP binding (GO:0005524)|GTP binding (GO:0005525)|guanylate cyclase activity (GO:0004383)|protein kinase activity (GO:0004672)|receptor activity (GO:0004872)	p.R383R(1)		skin(1)	1		Prostate(122;0.157)				CCGCCACATCCGGGATGCGCA	0.672													C|||	1	0.000199681	0.0	0.0014	5008	,	,		14342	0.0		0.0	False		,,,				2504	0.0					ENST00000254854.4																			1	Substitution - coding silent(1)	p.R383R(1)	large_intestine(1)	skin(1)	1						c.(1147-1149)Cgg>Tgg		guanylate cyclase 2D, membrane (retina-specific)							28.0	33.0	31.0					17																	7909801		2202	4300	6502	SO:0001583	missense	3000				intracellular signal transduction|receptor guanylyl cyclase signaling pathway|visual perception	integral to plasma membrane|nuclear outer membrane	ATP binding|GTP binding|guanylate cyclase activity|protein kinase activity|receptor activity	g.chr17:7909801C>T	L26921	CCDS11127.1	17p13.1	2013-06-06			ENSG00000132518	ENSG00000132518			4689	protein-coding gene	gene with protein product		600179	"""cone rod dystrophy 6"""	CORD6, LCA, GUC2D, GUC1A4		1356371, 12552567	Standard	NM_000180		Approved	retGC, RETGC-1, ROS-GC1, CYGD, LCA1	uc002gjt.2	Q02846	OTTHUMG00000108169	ENST00000254854.4:c.1147C>T	17.37:g.7909801C>T	ENSP00000254854:p.Arg383Trp						p.R383W	NM_000180.3	NP_000171.1	Q02846	GUC2D_HUMAN			4	1297	+		Prostate(122;0.157)	383					Q6LEA7	Missense_Mutation	SNP	ENST00000254854.4	37	c.1147C>T	CCDS11127.1	.	.	.	.	.	.	.	.	.	.	C	13.28	2.189081	0.38707	.	.	ENSG00000132518	ENST00000254854	D	0.84516	-1.86	5.15	-2.38	0.06622	Extracellular ligand-binding receptor (1);	1.298530	0.05493	N	0.556966	T	0.80065	0.4555	M	0.67397	2.05	0.09310	N	1	B	0.22800	0.075	B	0.21546	0.035	T	0.61158	-0.7119	10	0.41790	T	0.15	.	1.773	0.03016	0.2955:0.353:0.2031:0.1483	.	383	Q02846	GUC2D_HUMAN	W	383	ENSP00000254854:R383W	ENSP00000254854:R383W	R	+	1	2	GUCY2D	7850526	0.000000	0.05858	0.000000	0.03702	0.083000	0.17756	-0.007000	0.12810	-0.310000	0.08766	-1.149000	0.01842	CGG		0.672	GUCY2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226973.2			22	47	0	0	0	1	0	22	47				
FBXW7	55294	broad.mit.edu	37	4	153245424	153245424	+	Silent	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr4:153245424G>A	ENST00000281708.4	-	11	2996	c.1767C>T	c.(1765-1767)ctC>ctT	p.L589L	FBXW7_ENST00000603841.1_Silent_p.L589L|FBXW7_ENST00000296555.5_Silent_p.L471L|FBXW7_ENST00000393956.3_Silent_p.L413L|FBXW7_ENST00000263981.5_Silent_p.L509L|FBXW7_ENST00000603548.1_Silent_p.L589L	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN	F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase	589					cellular response to DNA damage stimulus (GO:0006974)|cellular response to UV (GO:0034644)|lipid homeostasis (GO:0055088)|lung development (GO:0030324)|negative regulation of DNA endoreduplication (GO:0032876)|negative regulation of hepatocyte proliferation (GO:2000346)|negative regulation of Notch signaling pathway (GO:0045746)|negative regulation of SREBP signaling pathway (GO:2000639)|negative regulation of triglyceride biosynthetic process (GO:0010868)|Notch signaling pathway (GO:0007219)|positive regulation of epidermal growth factor-activated receptor activity (GO:0045741)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of oxidative stress-induced neuron intrinsic apoptotic signaling pathway (GO:1903378)|positive regulation of proteasomal protein catabolic process (GO:1901800)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process (GO:2000060)|positive regulation of ubiquitin-protein transferase activity (GO:0051443)|protein stabilization (GO:0050821)|protein ubiquitination (GO:0016567)|regulation of cell cycle G1/S phase transition (GO:1902806)|regulation of lipid storage (GO:0010883)|regulation of protein localization (GO:0032880)|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process (GO:0031146)|sister chromatid cohesion (GO:0007062)|vasculature development (GO:0001944)|vasculogenesis (GO:0001570)|viral process (GO:0016032)	cytoplasm (GO:0005737)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|Parkin-FBXW7-Cul1 ubiquitin ligase complex (GO:1990452)|protein complex (GO:0043234)|SCF ubiquitin ligase complex (GO:0019005)	cyclin binding (GO:0030332)|identical protein binding (GO:0042802)|protein binding, bridging (GO:0030674)|sequence-specific DNA binding transcription factor activity (GO:0003700)|ubiquitin protein ligase binding (GO:0031625)|ubiquitin-protein transferase activator activity (GO:0097027)	p.?(1)		NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)				TATTGTCTTTGAGTTCCATTC	0.408			"""Mis, N, D, F"""		"""colorectal, endometrial, T-ALL"""																																	ENST00000281708.4				Rec	yes		4	4q31.3	55294	"""Mis, N, D, F"""	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"""			"""E, L"""			"""colorectal, endometrial, T-ALL"""		1	Unknown(1)	p.?(1)	haematopoietic_and_lymphoid_tissue(1)	NS(1)|biliary_tract(8)|bone(1)|breast(5)|central_nervous_system(6)|cervix(2)|endometrium(36)|haematopoietic_and_lymphoid_tissue(159)|kidney(6)|large_intestine(155)|lung(31)|ovary(10)|pancreas(3)|prostate(2)|skin(6)|stomach(16)|upper_aerodigestive_tract(9)|urinary_tract(6)	462						c.(1765-1767)ctC>ctT		F-box and WD repeat domain containing 7, E3 ubiquitin protein ligase							144.0	127.0	132.0					4																	153245424		2203	4300	6503	SO:0001819	synonymous_variant	55294				interspecies interaction between organisms|lipid homeostasis|negative regulation of DNA endoreduplication|negative regulation of hepatocyte proliferation|negative regulation of Notch signaling pathway|negative regulation of triglyceride biosynthetic process|positive regulation of epidermal growth factor receptor activity|positive regulation of ERK1 and ERK2 cascade|positive regulation of protein ubiquitination involved in ubiquitin-dependent protein catabolic process|protein stabilization|protein ubiquitination|regulation of lipid storage|regulation of protein localization|SCF-dependent proteasomal ubiquitin-dependent protein catabolic process|sister chromatid cohesion|vasculature development	nucleolus|nucleoplasm|SCF ubiquitin ligase complex	protein binding	g.chr4:153245424G>A	AF411971	CCDS3777.1, CCDS3778.1, CCDS34078.1, CCDS64082.1	4q31.23	2013-01-09	2012-02-23					"""F-boxes / WD-40 domains"", ""WD repeat domain containing"""	16712	protein-coding gene	gene with protein product	"""archipelago homolog (Drosophila)"""	606278	"""F-box and WD-40 domain protein 7 (archipelago homolog, Drosophila)"", ""F-box and WD repeat domain containing 7"""			10531037, 11425854	Standard	NM_018315		Approved	AGO, FLJ11071, SEL-10, SEL10, FBW7, FBX30, CDC4, FBXW6	uc003ims.3	Q969H0		ENST00000281708.4:c.1767C>T	4.37:g.153245424G>A						FBXW7_ENST00000393956.3_Silent_p.L413L|FBXW7_ENST00000296555.5_Silent_p.L471L|FBXW7_ENST00000603841.1_Silent_p.L589L|FBXW7_ENST00000263981.5_Silent_p.L509L|FBXW7_ENST00000603548.1_Silent_p.L589L	p.L589L	NM_033632.3	NP_361014.1	Q969H0	FBXW7_HUMAN			11	2996	-	all_hematologic(180;0.093)	Acute lymphoblastic leukemia(8;0.000629)|all_hematologic(8;0.067)	589					B7ZLP9|Q68DR0|Q96A16|Q96LE0|Q96RI2|Q9NUX6	Silent	SNP	ENST00000281708.4	37	c.1767C>T	CCDS3777.1																																																																																				0.408	FBXW7-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000469956.1			13	34	0	0	0	1	0	13	34				
EXTL2	2135	broad.mit.edu	37	1	101339656	101339656	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:101339656C>A	ENST00000370114.3	-	5	2271	c.835G>T	c.(835-837)Ggc>Tgc	p.G279C	EXTL2_ENST00000370113.3_Missense_Mutation_p.G279C|EXTL2_ENST00000535414.1_Missense_Mutation_p.G266C	NM_001033025.2|NM_001261440.1	NP_001028197.1|NP_001248369.1	Q9UBQ6	EXTL2_HUMAN	exostosin-like glycosyltransferase 2	279					heparan sulfate proteoglycan biosynthetic process (GO:0015012)|N-acetylglucosamine metabolic process (GO:0006044)|UDP-N-acetylgalactosamine metabolic process (GO:0019276)	endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|intrinsic component of endoplasmic reticulum membrane (GO:0031227)	alpha-1,4-N-acetylgalactosaminyltransferase activity (GO:0035248)|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity (GO:0001888)|metal ion binding (GO:0046872)			haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	14		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)		CCAGAATAGCCACTGTTGGTT	0.388																																						ENST00000370114.3																			0				haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(4)|skin(1)|urinary_tract(1)	14						c.(835-837)Ggc>Tgc		exostosin-like glycosyltransferase 2							88.0	81.0	83.0					1																	101339656		2203	4299	6502	SO:0001583	missense	2135				N-acetylglucosamine metabolic process|UDP-N-acetylgalactosamine metabolic process	extracellular region|integral to membrane|intrinsic to endoplasmic reticulum membrane	alpha-1,4-N-acetylgalactosaminyltransferase activity|glucuronyl-galactosyl-proteoglycan 4-alpha-N-acetylglucosaminyltransferase activity|metal ion binding	g.chr1:101339656C>A	U76189	CCDS775.1, CCDS72831.1	1p21	2013-03-01	2013-03-01		ENSG00000162694	ENSG00000162694	2.4.1.223	"""Exostosin glycosyltransferase family"""	3516	protein-coding gene	gene with protein product	"""alpha-1,4-N-acteylhexosaminyltransferase"""	602411	"""exostoses (multiple)-like 2"""			9450183, 15831490	Standard	NM_001439		Approved		uc001dtk.2	Q9UBQ6	OTTHUMG00000011814	ENST00000370114.3:c.835G>T	1.37:g.101339656C>A	ENSP00000359132:p.Gly279Cys					EXTL2_ENST00000370113.3_Missense_Mutation_p.G279C|EXTL2_ENST00000535414.1_Missense_Mutation_p.G266C	p.G279C	NM_001033025.2|NM_001261440.1	NP_001028197.1|NP_001248369.1	Q9UBQ6	EXTL2_HUMAN		Epithelial(280;0.0425)|all cancers(265;0.0628)|COAD - Colon adenocarcinoma(174;0.148)|Colorectal(144;0.167)|Lung(183;0.195)	5	2271	-		all_epithelial(167;2.48e-06)|all_lung(203;0.000414)|Lung NSC(277;0.000946)	279					B2R795|D3DT60	Missense_Mutation	SNP	ENST00000370114.3	37	c.835G>T	CCDS775.1	.	.	.	.	.	.	.	.	.	.	C	25.8	4.674001	0.88445	.	.	ENSG00000162694	ENST00000370114;ENST00000370113;ENST00000535414	T;T;T	0.78364	-1.17;-1.17;-1.17	5.97	5.97	0.96955	EXTL2, alpha-1,4-N-acetylhexosaminyltransferase (1);	0.000000	0.85682	D	0.000000	T	0.80686	0.4670	L	0.43554	1.36	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.999	T	0.73199	-0.4058	10	0.17369	T	0.5	-17.2467	20.428	0.99075	0.0:1.0:0.0:0.0	.	278;279	Q8N8F1;Q9UBQ6	.;EXTL2_HUMAN	C	279;279;266	ENSP00000359132:G279C;ENSP00000359131:G279C;ENSP00000444385:G266C	ENSP00000359131:G279C	G	-	1	0	EXTL2	101112244	1.000000	0.71417	0.989000	0.46669	0.977000	0.68977	7.487000	0.81328	2.837000	0.97791	0.655000	0.94253	GGC		0.388	EXTL2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000032705.1	NM_001439		13	34	1	0	0.00010058	1	0.000103618	13	34				
SNHG14	104472715	broad.mit.edu	37	15	25304613	25304613	+	RNA	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr15:25304613G>A	ENST00000549804.2	+	0	98				SNORD116-3_ENST00000384287.1_RNA|SNHG14_ENST00000384733.1_RNA|SNHG14_ENST00000547292.1_RNA|SNORD116-5_ENST00000384462.1_RNA					small nucleolar RNA host gene 14 (non-protein coding)																		GGGTGCCGAAGGTCTTTAAGG	0.502																																						ENST00000549804.2																			0																																																			104472715							g.chr15:25304613G>A			15q11.2	2014-01-17	2011-08-22	2011-08-22	ENSG00000224078	ENSG00000224078		"""Long non-coding RNAs"""	37462	non-coding RNA	RNA, long non-coding	"""non-protein coding RNA 214"""		"""UBE3A antisense RNA 1 (non-protein coding)"""	UBE3A-AS1		23771028	Standard			Approved	NCRNA00214, UBE3A-AS			OTTHUMG00000056661		15.37:g.25304613G>A														0	98	+									RNA	SNP	ENST00000549804.2	37																																																																																						0.502	SNHG14-012	KNOWN	non_canonical_other|basic	antisense	processed_transcript	OTTHUMT00000408278.2			19	35	0	0	0	1	0	19	35				
SNED1	25992	broad.mit.edu	37	2	242011234	242011234	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:242011234G>C	ENST00000310397.8	+	26	3758	c.3758G>C	c.(3757-3759)aGa>aCa	p.R1253T	SNED1_ENST00000401884.1_Missense_Mutation_p.R1253T|SNED1_ENST00000342631.6_Missense_Mutation_p.R1253T|MTERFD2_ENST00000464344.2_5'Flank|SNED1_ENST00000405547.3_Missense_Mutation_p.R1253T	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN	sushi, nidogen and EGF-like domains 1	1253					cell-matrix adhesion (GO:0007160)	extracellular vesicular exosome (GO:0070062)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)		GTGGACGGCAGAGGAAGAGTG	0.672																																						ENST00000310397.8																			0				NS(1)|breast(1)|central_nervous_system(3)|kidney(2)|large_intestine(6)|lung(4)|ovary(3)|prostate(3)|upper_aerodigestive_tract(1)	24						c.(3757-3759)aGa>aCa		sushi, nidogen and EGF-like domains 1							27.0	33.0	31.0					2																	242011234		2069	4205	6274	SO:0001583	missense	25992				cell-matrix adhesion	extracellular region	calcium ion binding	g.chr2:242011234G>C	AK074062	CCDS46562.1	2q37.3	2014-01-28			ENSG00000162804	ENSG00000162804		"""Fibronectin type III domain containing"""	24696	protein-coding gene	gene with protein product						12477932	Standard	NM_001080437		Approved	FLJ00133, SST3, Snep	uc002wah.1	Q8TER0	OTTHUMG00000151803	ENST00000310397.8:c.3758G>C	2.37:g.242011234G>C	ENSP00000308893:p.Arg1253Thr					SNED1_ENST00000401884.1_Missense_Mutation_p.R1253T|SNED1_ENST00000405547.3_Missense_Mutation_p.R1253T|SNED1_ENST00000342631.6_Missense_Mutation_p.R1253T	p.R1253T	NM_001080437.1	NP_001073906.1	Q8TER0	SNED1_HUMAN		Epithelial(32;6.46e-32)|all cancers(36;6.23e-29)|OV - Ovarian serous cystadenocarcinoma(60;2.1e-14)|Kidney(56;6.35e-09)|KIRC - Kidney renal clear cell carcinoma(57;5.98e-08)|BRCA - Breast invasive adenocarcinoma(100;3.66e-06)|Lung(119;0.00072)|LUSC - Lung squamous cell carcinoma(224;0.00553)|Colorectal(34;0.0162)|COAD - Colon adenocarcinoma(134;0.109)	26	3758	+		all_cancers(19;7.48e-31)|all_epithelial(40;1.35e-12)|Breast(86;0.000148)|Renal(207;0.00528)|Ovarian(221;0.104)|Esophageal squamous(248;0.131)|all_lung(227;0.17)|all_hematologic(139;0.182)|Melanoma(123;0.238)	1253					B5MDC3|B7WNK6|B7WPM0|Q336F4|Q336F5|Q8N369|Q8TEP7	Missense_Mutation	SNP	ENST00000310397.8	37	c.3758G>C	CCDS46562.1	.	.	.	.	.	.	.	.	.	.	G	23.9	4.473840	0.84640	.	.	ENSG00000162804	ENST00000401884;ENST00000405547;ENST00000310397;ENST00000342631	D;D;D;D	0.84944	-1.84;-1.67;-1.92;-1.65	4.95	4.95	0.65309	.	0.000000	0.49305	D	0.000141	D	0.91570	0.7337	M	0.71581	2.175	0.39022	D	0.959765	D;D;D;D	0.89917	1.0;1.0;0.998;1.0	D;D;D;D	0.91635	0.999;0.999;0.987;0.999	D	0.93165	0.6561	10	0.72032	D	0.01	.	15.9836	0.80130	0.0:0.0:1.0:0.0	.	1253;1253;1253;1253	Q8TER0-3;Q8TER0-5;B5MEF5;Q8TER0	.;.;.;SNED1_HUMAN	T	1253	ENSP00000384871:R1253T;ENSP00000386007:R1253T;ENSP00000308893:R1253T;ENSP00000342992:R1253T	ENSP00000308893:R1253T	R	+	2	0	SNED1	241659907	1.000000	0.71417	0.985000	0.45067	0.973000	0.67179	6.991000	0.76232	2.293000	0.77203	0.467000	0.42956	AGA		0.672	SNED1-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323935.2	XM_059482		4	16	0	0	0	1	0	4	16				
HERC2P3	283755	broad.mit.edu	37	15	20649624	20649624	+	RNA	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr15:20649624C>T	ENST00000428453.1	-	0	2574							Q9BVR0	HRC23_HUMAN	hect domain and RLD 2 pseudogene 3								metal ion binding (GO:0046872)|ubiquitin-protein transferase activity (GO:0004842)			central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35						ATCCACCCGTCCTCTCCCAGC	0.572																																						ENST00000428453.1																			0				central_nervous_system(1)|endometrium(11)|kidney(2)|large_intestine(1)|lung(14)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	35															77.0	70.0	72.0					15																	20649624		2188	4266	6454			283755							g.chr15:20649624C>T	AF041081		15q11.2	2010-08-02			ENSG00000180229	ENSG00000180229			4871	pseudogene	pseudogene						9730612	Standard	NR_036432		Approved	D15F37S4, LOC283755	uc001ytg.3	Q9BVR0	OTTHUMG00000157175		15.37:g.20649624C>T														0	2574	-									RNA	SNP	ENST00000428453.1	37																																																																																						0.572	HERC2P3-014	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000347772.2	NG_008269		40	153	0	0	0	1	0	40	153				
FGFR2	2263	broad.mit.edu	37	10	123256095	123256095	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr10:123256095G>A	ENST00000358487.5	-	13	2086	c.1814C>T	c.(1813-1815)tCa>tTa	p.S605L	FGFR2_ENST00000360144.3_Missense_Mutation_p.S517L|FGFR2_ENST00000457416.2_Missense_Mutation_p.S606L|FGFR2_ENST00000357555.5_Missense_Mutation_p.S516L|FGFR2_ENST00000369059.1_Missense_Mutation_p.S491L|FGFR2_ENST00000356226.4_Missense_Mutation_p.S488L|FGFR2_ENST00000369056.1_Missense_Mutation_p.S606L|FGFR2_ENST00000478859.1_Missense_Mutation_p.S377L|FGFR2_ENST00000369061.4_Missense_Mutation_p.S493L|FGFR2_ENST00000351936.6_Missense_Mutation_p.S603L|FGFR2_ENST00000346997.2_Missense_Mutation_p.S603L|FGFR2_ENST00000369060.4_Missense_Mutation_p.S489L	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	fibroblast growth factor receptor 2	605	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				angiogenesis (GO:0001525)|apoptotic process (GO:0006915)|axonogenesis (GO:0007409)|bone development (GO:0060348)|bone mineralization (GO:0030282)|bone morphogenesis (GO:0060349)|branch elongation involved in salivary gland morphogenesis (GO:0060667)|branching involved in labyrinthine layer morphogenesis (GO:0060670)|branching involved in prostate gland morphogenesis (GO:0060442)|branching involved in salivary gland morphogenesis (GO:0060445)|branching morphogenesis of a nerve (GO:0048755)|bud elongation involved in lung branching (GO:0060449)|cell fate commitment (GO:0045165)|cell-cell signaling (GO:0007267)|coronal suture morphogenesis (GO:0060365)|digestive tract development (GO:0048565)|embryonic cranial skeleton morphogenesis (GO:0048701)|embryonic digestive tract morphogenesis (GO:0048557)|embryonic organ development (GO:0048568)|embryonic organ morphogenesis (GO:0048562)|embryonic pattern specification (GO:0009880)|endodermal digestive tract morphogenesis (GO:0061031)|epidermal growth factor receptor signaling pathway (GO:0007173)|epidermis morphogenesis (GO:0048730)|epithelial cell differentiation (GO:0030855)|epithelial cell proliferation involved in salivary gland morphogenesis (GO:0060664)|epithelial to mesenchymal transition (GO:0001837)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|fibroblast growth factor receptor signaling pathway involved in hemopoiesis (GO:0035603)|fibroblast growth factor receptor signaling pathway involved in mammary gland specification (GO:0060595)|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptotic process in bone marrow (GO:0035602)|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development (GO:0035607)|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow (GO:0035604)|gland morphogenesis (GO:0022612)|hair follicle morphogenesis (GO:0031069)|in utero embryonic development (GO:0001701)|innate immune response (GO:0045087)|inner ear morphogenesis (GO:0042472)|insulin receptor signaling pathway (GO:0008286)|lacrimal gland development (GO:0032808)|lateral sprouting from an epithelium (GO:0060601)|lens fiber cell development (GO:0070307)|limb bud formation (GO:0060174)|lung alveolus development (GO:0048286)|lung development (GO:0030324)|lung lobe morphogenesis (GO:0060463)|lung-associated mesenchyme development (GO:0060484)|mammary gland bud formation (GO:0060615)|membranous septum morphogenesis (GO:0003149)|mesenchymal cell differentiation (GO:0048762)|mesenchymal cell differentiation involved in lung development (GO:0060915)|mesenchymal cell proliferation involved in lung development (GO:0060916)|mesodermal cell differentiation (GO:0048333)|midbrain development (GO:0030901)|morphogenesis of embryonic epithelium (GO:0016331)|multicellular organism growth (GO:0035264)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitosis (GO:0045839)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|neurotrophin TRK receptor signaling pathway (GO:0048011)|odontogenesis (GO:0042476)|orbitofrontal cortex development (GO:0021769)|organ growth (GO:0035265)|organ morphogenesis (GO:0009887)|otic vesicle formation (GO:0030916)|outflow tract septum morphogenesis (GO:0003148)|peptidyl-tyrosine phosphorylation (GO:0018108)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell cycle (GO:0045787)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial cell proliferation involved in lung morphogenesis (GO:0060501)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of mesenchymal cell proliferation (GO:0002053)|positive regulation of phospholipase activity (GO:0010518)|positive regulation of smooth muscle cell proliferation (GO:0048661)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of Wnt signaling pathway (GO:0030177)|post-embryonic development (GO:0009791)|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis (GO:0060527)|prostate epithelial cord elongation (GO:0060523)|prostate gland morphogenesis (GO:0060512)|protein autophosphorylation (GO:0046777)|pyramidal neuron development (GO:0021860)|regulation of branching involved in prostate gland morphogenesis (GO:0060687)|regulation of cell fate commitment (GO:0010453)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)|regulation of morphogenesis of a branching structure (GO:0060688)|regulation of multicellular organism growth (GO:0040014)|regulation of osteoblast differentiation (GO:0045667)|regulation of osteoblast proliferation (GO:0033688)|regulation of smooth muscle cell differentiation (GO:0051150)|regulation of smoothened signaling pathway (GO:0008589)|reproductive structure development (GO:0048608)|skeletal system morphogenesis (GO:0048705)|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development (GO:0060529)|synaptic vesicle transport (GO:0048489)|ureteric bud development (GO:0001657)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|ventricular zone neuroblast division (GO:0021847)	cell cortex (GO:0005938)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|excitatory synapse (GO:0060076)|extracellular region (GO:0005576)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|fibroblast growth factor binding (GO:0017134)|fibroblast growth factor-activated receptor activity (GO:0005007)|heparin binding (GO:0008201)|protein homodimerization activity (GO:0042803)|protein tyrosine kinase activity (GO:0004713)			breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	Palifermin(DB00039)|Ponatinib(DB08901)|Regorafenib(DB08896)|Thalidomide(DB01041)	GTAGGTGCATGACACCAAGTC	0.517		5	Mis		"""gastric. NSCLC, endometrial"""		"""Crouzon, Pfeiffer, and Apert syndromes"""		Saethre-Chotzen syndrome;Apert syndrome																													ENST00000358487.5		5		Dom	yes		10	10q26	2263	Mis	fibroblast growth factor receptor 2	yes	"""Crouzon, Pfeiffer, and Apert syndromes"""	E			"""gastric. NSCLC, endometrial"""		0				breast(3)|central_nervous_system(3)|cervix(2)|endometrium(98)|haematopoietic_and_lymphoid_tissue(4)|kidney(4)|large_intestine(7)|lung(21)|ovary(4)|skin(30)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(2)	181						c.(1813-1815)tCa>tTa		fibroblast growth factor receptor 2	Palifermin(DB00039)						277.0	273.0	274.0					10																	123256095		2203	4300	6503	SO:0001583	missense	2263	Saethre-Chotzen syndrome;Apert syndrome	Familial Cancer Database	Acrocephalosyndactyly type III;Acrocephalosyndactyly type I and II, ACS1. ACS2, incl Apert-Crouzon s.	angiogenesis|axonogenesis|bone mineralization|bone morphogenesis|branch elongation involved in salivary gland morphogenesis|branching involved in embryonic placenta morphogenesis|branching morphogenesis of a nerve|bud elongation involved in lung branching|cell fate commitment|cell growth|cell-cell signaling|cellular response to protein stimulus|embryonic digestive tract morphogenesis|embryonic pattern specification|epithelial cell proliferation involved in salivary gland morphogenesis|fibroblast growth factor receptor signaling pathway involved in hemopoiesis|fibroblast growth factor receptor signaling pathway involved in mammary gland specification|fibroblast growth factor receptor signaling pathway involved in negative regulation of apoptosis in bone marrow|fibroblast growth factor receptor signaling pathway involved in orbitofrontal cortex development|fibroblast growth factor receptor signaling pathway involved in positive regulation of cell proliferation in bone marrow|hair follicle morphogenesis|insulin receptor signaling pathway|lacrimal gland development|lateral sprouting from an epithelium|limb bud formation|lung alveolus development|lung lobe morphogenesis|lung-associated mesenchyme development|mammary gland bud formation|membranous septum morphogenesis|mesenchymal cell differentiation involved in lung development|mesenchymal cell proliferation involved in lung development|midbrain development|multicellular organism growth|negative regulation of transcription from RNA polymerase II promoter|odontogenesis|organ growth|otic vesicle formation|outflow tract septum morphogenesis|positive regulation of canonical Wnt receptor signaling pathway|positive regulation of cardiac muscle cell proliferation|positive regulation of cell cycle|positive regulation of cell division|positive regulation of epithelial cell proliferation involved in lung morphogenesis|positive regulation of ERK1 and ERK2 cascade|positive regulation of mesenchymal cell proliferation|positive regulation of transcription from RNA polymerase II promoter|post-embryonic development|prostate epithelial cord arborization involved in prostate glandular acinus morphogenesis|prostate epithelial cord elongation|pyramidal neuron development|regulation of branching involved in prostate gland morphogenesis|regulation of cell fate commitment|regulation of fibroblast growth factor receptor signaling pathway|regulation of multicellular organism growth|regulation of smooth muscle cell differentiation|regulation of smoothened signaling pathway|squamous basal epithelial stem cell differentiation involved in prostate gland acinus development|ureteric bud development|ventricular cardiac muscle tissue morphogenesis|ventricular zone neuroblast division	cell cortex|cell surface|excitatory synapse|extracellular region|integral to membrane|nucleus|plasma membrane	ATP binding|fibroblast growth factor binding|fibroblast growth factor receptor activity|heparin binding|protein binding	g.chr10:123256095G>A	AK026508	CCDS7620.2, CCDS31298.1, CCDS44485.1, CCDS44486.1, CCDS44487.1, CCDS44488.1, CCDS44489.1, CCDS53584.1, CCDS73210.1	10q25.3-q26	2013-01-11	2008-08-01		ENSG00000066468	ENSG00000066468		"""CD molecules"", ""Immunoglobulin superfamily / I-set domain containing"""	3689	protein-coding gene	gene with protein product	"""Crouzon syndrome"", ""Pfeiffer syndrome"""	176943	"""bacteria-expressed kinase"", ""keratinocyte growth factor receptor"", ""craniofacial dysostosis 1"", ""Jackson-Weiss syndrome"""	KGFR, BEK, CFD1, JWS			Standard	NM_022970		Approved	CEK3, TK14, TK25, ECT1, K-SAM, CD332	uc021pzy.1	P21802	OTTHUMG00000019175	ENST00000358487.5:c.1814C>T	10.37:g.123256095G>A	ENSP00000351276:p.Ser605Leu					FGFR2_ENST00000369059.1_Missense_Mutation_p.S491L|FGFR2_ENST00000478859.1_Missense_Mutation_p.S377L|FGFR2_ENST00000346997.2_Missense_Mutation_p.S603L|FGFR2_ENST00000360144.3_Missense_Mutation_p.S517L|FGFR2_ENST00000369056.1_Missense_Mutation_p.S606L|FGFR2_ENST00000369061.4_Missense_Mutation_p.S493L|FGFR2_ENST00000351936.6_Missense_Mutation_p.S603L|FGFR2_ENST00000457416.2_Missense_Mutation_p.S606L|FGFR2_ENST00000369060.4_Missense_Mutation_p.S489L|FGFR2_ENST00000356226.4_Missense_Mutation_p.S488L|FGFR2_ENST00000357555.5_Missense_Mutation_p.S516L	p.S605L	NM_000141.4	NP_000132.3	P21802	FGFR2_HUMAN	STAD - Stomach adenocarcinoma(1;7.52e-05)|all cancers(1;0.0722)	all cancers(201;9.73e-05)|GBM - Glioblastoma multiforme(135;0.0845)	13	2086	-		Lung NSC(174;0.0841)|all_lung(145;0.106)|all_neural(114;0.107)	605			Protein kinase.		B4DFC2|E7EVR6|E9PCR0|P18443|Q01742|Q12922|Q14300|Q14301|Q14302|Q14303|Q14304|Q14305|Q14672|Q14718|Q14719|Q1KHY5|Q86YI4|Q8IXC7|Q96KL9|Q96KM0|Q96KM1|Q96KM2|Q9NZU2|Q9NZU3|Q9UD01|Q9UD02|Q9UIH3|Q9UIH4|Q9UIH5|Q9UIH6|Q9UIH7|Q9UIH8|Q9UM87|Q9UMC6|Q9UNS7|Q9UQH7|Q9UQH8|Q9UQH9|Q9UQI0	Missense_Mutation	SNP	ENST00000358487.5	37	c.1814C>T	CCDS31298.1	.	.	.	.	.	.	.	.	.	.	G	32	5.184664	0.94885	.	.	ENSG00000066468	ENST00000357555;ENST00000369062;ENST00000369061;ENST00000358487;ENST00000356226;ENST00000369060;ENST00000369059;ENST00000429361;ENST00000346997;ENST00000457416;ENST00000351936;ENST00000360144;ENST00000369056;ENST00000369058;ENST00000336553	D;D;D;D;D;D;D;D;D;D;D;D;D;D	0.83163	-1.69;-1.69;-1.69;-1.69;-1.69;-1.69;-1.69;-1.69;-1.69;-1.69;-1.69;-1.69;-1.69;-1.69	5.28	5.28	0.74379	Serine-threonine/tyrosine-protein kinase (1);Protein kinase-like domain (1);Tyrosine-protein kinase, catalytic domain (1);Protein kinase, catalytic domain (1);	0.105016	0.64402	D	0.000002	D	0.88919	0.6568	L	0.48260	1.515	0.80722	D	1	D;D;D;D;D;D;D;D	0.89917	0.987;0.997;0.986;0.999;1.0;0.972;1.0;0.999	D;D;D;D;D;P;D;D	0.79108	0.918;0.986;0.942;0.953;0.989;0.618;0.992;0.977	D	0.89889	0.4036	10	0.87932	D	0	.	18.9702	0.92712	0.0:0.0:1.0:0.0	.	622;604;516;488;605;517;606;508	D3DRD5;P21802-18;P21802-21;P21802-20;P21802;P21802-22;P21802-17;D3DRD3	.;.;.;.;FGFR2_HUMAN;.;.;.	L	516;606;493;605;488;489;491;197;603;606;603;517;606;606;514	ENSP00000350166:S516L;ENSP00000358057:S493L;ENSP00000351276:S605L;ENSP00000348559:S488L;ENSP00000358056:S489L;ENSP00000358055:S491L;ENSP00000404219:S197L;ENSP00000263451:S603L;ENSP00000410294:S606L;ENSP00000309878:S603L;ENSP00000353262:S517L;ENSP00000358052:S606L;ENSP00000358054:S606L;ENSP00000337665:S514L	ENSP00000337665:S514L	S	-	2	0	FGFR2	123246085	1.000000	0.71417	0.947000	0.38551	0.938000	0.57974	9.743000	0.98849	2.464000	0.83262	0.549000	0.68633	TCA		0.517	FGFR2-001	KNOWN	non_canonical_conserved|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000050715.1	NM_022976, NM_000141		106	251	0	0	0	1	0	106	251				
UBR2	23304	broad.mit.edu	37	6	42559958	42559958	+	Silent	SNP	T	T	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr6:42559958T>C	ENST00000372899.1	+	3	666	c.408T>C	c.(406-408)caT>caC	p.H136H	UBR2_ENST00000372903.2_Silent_p.H136H|UBR2_ENST00000372901.1_Silent_p.H136H	NM_015255.2	NP_056070.1	Q8IWV8	UBR2_HUMAN	ubiquitin protein ligase E3 component n-recognin 2	136					cellular response to leucine (GO:0071233)|chromatin silencing (GO:0006342)|histone H2A ubiquitination (GO:0033522)|male meiosis I (GO:0007141)|negative regulation of TOR signaling (GO:0032007)|spermatogenesis (GO:0007283)|ubiquitin-dependent protein catabolic process (GO:0006511)	chromatin (GO:0000785)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|ubiquitin ligase complex (GO:0000151)	leucine binding (GO:0070728)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64	Colorectal(47;0.196)		Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)			ACAGAGATCATCGATATAGGG	0.308																																						ENST00000372901.1																			0				breast(1)|central_nervous_system(1)|endometrium(10)|kidney(7)|large_intestine(14)|lung(22)|ovary(3)|pancreas(1)|skin(5)	64						c.(406-408)caT>caC		ubiquitin protein ligase E3 component n-recognin 2							120.0	108.0	112.0					6																	42559958		2203	4299	6502	SO:0001819	synonymous_variant	23304				cellular response to leucine|chromatin silencing|histone H2A ubiquitination|negative regulation of TOR signaling cascade	nucleus|plasma membrane	leucine binding|zinc ion binding	g.chr6:42559958T>C	BC024217	CCDS4870.1, CCDS55001.1	6p21.1	2008-06-23	2005-01-10	2005-01-12	ENSG00000024048	ENSG00000024048		"""Ubiquitin protein ligase E3 component n-recognins"""	21289	protein-coding gene	gene with protein product		609134	"""chromosome 6 open reading frame 133"""	C6orf133			Standard	NM_015255		Approved	bA49A4.1, dJ392M17.3, KIAA0349	uc011dur.2	Q8IWV8	OTTHUMG00000014703	ENST00000372899.1:c.408T>C	6.37:g.42559958T>C						UBR2_ENST00000372903.2_Silent_p.H136H|UBR2_ENST00000372899.1_Silent_p.H136H	p.H136H			Q8IWV8	UBR2_HUMAN	Colorectal(64;0.00062)|COAD - Colon adenocarcinoma(64;0.00152)|all cancers(41;0.004)|KIRC - Kidney renal clear cell carcinoma(15;0.02)|Kidney(15;0.0388)|OV - Ovarian serous cystadenocarcinoma(102;0.196)		3	666	+	Colorectal(47;0.196)		136					O15057|Q4VXK2|Q5TFH6|Q6P2I2|Q6ZUD0	Silent	SNP	ENST00000372899.1	37	c.408T>C	CCDS4870.1																																																																																				0.308	UBR2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000040558.2	NM_015255		30	50	0	0	0	1	0	30	50				
TTN	7273	broad.mit.edu	37	2	179586717	179586717	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:179586717C>A	ENST00000591111.1	-	76	21946	c.21722G>T	c.(21721-21723)gGa>gTa	p.G7241V	TTN_ENST00000589042.1_Missense_Mutation_p.G7558V|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000342992.6_Missense_Mutation_p.G6314V|RP11-171I2.1_ENST00000590024.1_RNA|TTN_ENST00000342175.6_Intron|TTN_ENST00000460472.2_Intron|TTN_ENST00000359218.5_Intron			Q8WZ42	TITIN_HUMAN	titin	12809	Ig-like 54.				adult heart development (GO:0007512)|blood coagulation (GO:0007596)|cardiac muscle contraction (GO:0060048)|cardiac muscle fiber development (GO:0048739)|cardiac muscle hypertrophy (GO:0003300)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac myofibril assembly (GO:0055003)|detection of muscle stretch (GO:0035995)|forward locomotion (GO:0043056)|in utero embryonic development (GO:0001701)|mitotic chromosome condensation (GO:0007076)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|regulation of catalytic activity (GO:0050790)|regulation of protein kinase activity (GO:0045859)|regulation of relaxation of cardiac muscle (GO:1901897)|response to calcium ion (GO:0051592)|sarcomere organization (GO:0045214)|sarcomerogenesis (GO:0048769)|skeletal muscle myosin thick filament assembly (GO:0030241)|skeletal muscle thin filament assembly (GO:0030240)|somitogenesis (GO:0001756)|striated muscle contraction (GO:0006941)	condensed nuclear chromosome (GO:0000794)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|M band (GO:0031430)|nucleus (GO:0005634)|striated muscle thin filament (GO:0005865)|Z disc (GO:0030018)	actin filament binding (GO:0051015)|actinin binding (GO:0042805)|ATP binding (GO:0005524)|calcium ion binding (GO:0005509)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|muscle alpha-actinin binding (GO:0051371)|protease binding (GO:0002020)|protein kinase binding (GO:0019901)|protein self-association (GO:0043621)|protein serine/threonine kinase activity (GO:0004674)|structural constituent of muscle (GO:0008307)|structural molecule activity conferring elasticity (GO:0097493)|telethonin binding (GO:0031433)			NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448			OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)			ATAGTTTCCTCCAGGACGGAT	0.418																																						ENST00000589042.1																			0				NS(24)|autonomic_ganglia(1)|breast(64)|central_nervous_system(14)|cervix(14)|endometrium(96)|haematopoietic_and_lymphoid_tissue(16)|kidney(91)|large_intestine(303)|liver(1)|lung(595)|ovary(58)|pancreas(17)|prostate(38)|skin(60)|stomach(29)|upper_aerodigestive_tract(1)|urinary_tract(26)	1448						c.(22672-22674)gGa>gTa		titin							274.0	256.0	262.0					2																	179586717		1923	4132	6055	SO:0001583	missense	7273						ATP binding|nucleic acid binding|protein serine/threonine kinase activity|protein tyrosine kinase activity	g.chr2:179586717C>A	X90568	CCDS54421.1, CCDS54422.1, CCDS54423.1, CCDS54424.1, CCDS33337.1, CCDS59435.1, CCDS74610.1	2q31	2014-09-17	2004-02-13		ENSG00000155657	ENSG00000155657		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"", ""Fibronectin type III domain containing"""	12403	protein-coding gene	gene with protein product		188840	"""cardiomyopathy, dilated 1G (autosomal dominant)"""	CMD1G		2129545, 10051295	Standard	NM_003319		Approved	CMPD4, FLJ32040, TMD, CMH9, LGMD2J, MYLK5	uc031rqd.1	Q8WZ42	OTTHUMG00000154448	ENST00000591111.1:c.21722G>T	2.37:g.179586717C>A	ENSP00000465570:p.Gly7241Val					TTN_ENST00000460472.2_Intron|TTN_ENST00000342175.6_Intron|TTN-AS1_ENST00000585451.1_RNA|TTN_ENST00000591111.1_Missense_Mutation_p.G7241V|TTN_ENST00000359218.5_Intron|TTN_ENST00000342992.6_Missense_Mutation_p.G6314V	p.G7558V	NM_001267550.1	NP_001254479.1	Q8WZ42	TITIN_HUMAN	OV - Ovarian serous cystadenocarcinoma(117;0.023)|Epithelial(96;0.0454)|all cancers(119;0.134)		78	22897	-			7241			Ig-like 57.		A6NKB1|E7EQE6|E7ET18|K7ENY1|Q10465|Q10466|Q15598|Q2XUS3|Q32Q60|Q4U1Z6|Q4ZG20|Q6NSG0|Q6PDB1|Q6PJP0|Q7KYM2|Q7KYN4|Q7KYN5|Q7LDM3|Q7Z2X3|Q8TCG8|Q8WZ42|Q8WZ51|Q8WZ52|Q8WZ53|Q8WZB3|Q92761|Q92762|Q9UD97|Q9UP84|Q9Y6L9	Missense_Mutation	SNP	ENST00000591111.1	37	c.22673G>T		.	.	.	.	.	.	.	.	.	.	C	14.14	2.446408	0.43429	.	.	ENSG00000155657	ENST00000342992	T	0.48522	0.81	6.16	6.16	0.99307	Immunoglobulin I-set (1);Immunoglobulin subtype 2 (1);Immunoglobulin-like (1);Ribonuclease H-like (1);Immunoglobulin-like fold (1);	.	.	.	.	T	0.71888	0.3393	M	0.74881	2.28	0.80722	D	1	D	0.89917	1.0	D	0.97110	1.0	T	0.71817	-0.4478	9	0.87932	D	0	.	20.8598	0.99761	0.0:1.0:0.0:0.0	.	7241	Q8WZ42	TITIN_HUMAN	V	6314	ENSP00000343764:G6314V	ENSP00000343764:G6314V	G	-	2	0	TTN	179294962	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.042000	0.70996	2.937000	0.99478	0.650000	0.86243	GGA		0.418	TTN-019	PUTATIVE	basic	protein_coding	protein_coding	OTTHUMT00000460310.1	NM_133378		53	119	1	0	3.07002e-29	1	3.80806e-29	53	119				
SAMD11	148398	broad.mit.edu	37	1	874667	874667	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:874667T>C	ENST00000342066.3	+	7	616	c.533T>C	c.(532-534)cTg>cCg	p.L178P		NM_152486.2	NP_689699	Q96NU1	SAM11_HUMAN	sterile alpha motif domain containing 11	178					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)	nucleus (GO:0005634)				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)		GCGCTGCTGCTGCCGCGGGAG	0.692																																						ENST00000342066.3																			0				breast(1)|cervix(1)|endometrium(3)|kidney(1)|large_intestine(2)|lung(4)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	15						c.(532-534)cTg>cCg		sterile alpha motif domain containing 11							12.0	13.0	13.0					1																	874667		2190	4290	6480	SO:0001583	missense	148398					nucleus		g.chr1:874667T>C	BC024295	CCDS2.2	1p36.33	2013-01-10			ENSG00000187634	ENSG00000187634		"""Sterile alpha motif (SAM) domain containing"""	28706	protein-coding gene	gene with protein product						12477932	Standard	NM_152486		Approved	MGC45873	uc001abw.1	Q96NU1	OTTHUMG00000040719	ENST00000342066.3:c.533T>C	1.37:g.874667T>C	ENSP00000342313:p.Leu178Pro						p.L178P	NM_152486.2	NP_689699.2	Q96NU1	SAM11_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (11;0.00459)|Epithelial(90;1.74e-38)|OV - Ovarian serous cystadenocarcinoma(86;5.93e-23)|Colorectal(212;0.000159)|COAD - Colon adenocarcinoma(227;0.000193)|BRCA - Breast invasive adenocarcinoma(365;0.000472)|Kidney(185;0.0023)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0342)|Lung(427;0.199)	7	616	+	all_cancers(77;0.00164)|all_epithelial(69;0.000959)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;8.75e-19)|all_lung(118;2.3e-08)|Lung NSC(185;2.38e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Lung SC(97;0.128)	178					A2AA76|I7FV78|I7FV81|I7G0Z6|Q5SV96|Q5SV99|Q5SVA0|Q8N195|Q8TB59	Missense_Mutation	SNP	ENST00000342066.3	37	c.533T>C	CCDS2.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	T|T	13.78|13.78	2.339461|2.339461	0.41398|0.41398	.|.	.|.	ENSG00000187634|ENSG00000187634	ENST00000341065;ENST00000455979|ENST00000420190;ENST00000342066	.|.	.|.	.|.	4.36|4.36	4.36|4.36	0.52297|0.52297	.|.	.|0.273612	.|0.24072	.|N	.|0.041807	T|T	0.67683|0.67683	0.2919|0.2919	L|L	0.47716|0.47716	1.5|1.5	0.49389|0.49389	D|D	0.999786|0.999786	.|D;D	.|0.76494	.|0.999;0.999	.|D;D	.|0.74023	.|0.982;0.96	T|T	0.69917|0.69917	-0.5015|-0.5015	5|9	.|0.66056	.|D	.|0.02	-15.9388|-15.9388	11.8058|11.8058	0.52155|0.52155	0.0:0.0:0.0:1.0|0.0:0.0:0.0:1.0	.|.	.|178;178	.|Q96NU1-1;Q96NU1	.|.;SAM11_HUMAN	R|P	102;5|178	.|.	.|ENSP00000342313:L178P	C|L	+|+	1|2	0|0	SAMD11|SAMD11	864530|864530	.|.	.|.	0.683000|0.683000	0.30040|0.30040	0.043000|0.043000	0.13939|0.13939	.|.	.|.	1.749000|1.749000	0.51849|0.51849	0.482000|0.482000	0.46254|0.46254	TGC|CTG		0.692	SAMD11-010	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000276866.2	NM_152486		7	12	0	0	0	1	0	7	12				
PGPEP1L	145814	broad.mit.edu	37	15	99512851	99512851	+	Silent	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr15:99512851G>A	ENST00000378919.6	-	4	379	c.174C>T	c.(172-174)gcC>gcT	p.A58A	PGPEP1L_ENST00000535714.1_Silent_p.A4A|RP11-654A16.3_ENST00000559468.1_RNA	NM_001102612.2	NP_001096082.2	A6NFU8	PGPIL_HUMAN	pyroglutamyl-peptidase I-like	58							cysteine-type peptidase activity (GO:0008234)			breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|stomach(1)	14						TCGCCTTGGCGGCGGTGTCCA	0.612																																						ENST00000535714.1																			0				breast(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(2)|skin(1)|stomach(1)	14						c.(10-12)gcC>gcT		pyroglutamyl-peptidase I-like							95.0	101.0	99.0					15																	99512851		2162	4265	6427	SO:0001819	synonymous_variant	145814				proteolysis		cysteine-type peptidase activity	g.chr15:99512851G>A		CCDS53977.1, CCDS58400.1	15q26.3	2010-02-16			ENSG00000183571	ENSG00000183571			27080	protein-coding gene	gene with protein product							Standard	NM_001102612		Approved		uc002bum.3	A6NFU8		ENST00000378919.6:c.174C>T	15.37:g.99512851G>A						PGPEP1L_ENST00000378919.6_Silent_p.A58A|RP11-654A16.3_ENST00000559468.1_RNA	p.A4A	NM_001167902.1	NP_001161374.1	A6NFU8	PGPIL_HUMAN			4	817	-			58					H0YF86	Silent	SNP	ENST00000378919.6	37	c.12C>T	CCDS53977.1																																																																																				0.612	PGPEP1L-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000415703.1	NM_001102612.2		61	120	0	0	0	1	0	61	120				
PCNXL3	399909	broad.mit.edu	37	11	65396297	65396297	+	Silent	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:65396297C>A	ENST00000355703.3	+	24	4358	c.3819C>A	c.(3817-3819)gcC>gcA	p.A1273A		NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN	pecanex-like 3 (Drosophila)	1273						integral component of membrane (GO:0016021)				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						CAGACTCGGCCATGCTGTTCG	0.677																																						ENST00000355703.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(1)|lung(6)|prostate(1)	13						c.(3817-3819)gcC>gcA		pecanex-like 3 (Drosophila)							33.0	35.0	34.0					11																	65396297		2107	4207	6314	SO:0001819	synonymous_variant	399909					integral to membrane		g.chr11:65396297C>A	BX640978	CCDS44650.1	11q12.1	2008-07-21			ENSG00000197136	ENSG00000197136			18760	protein-coding gene	gene with protein product						15146197	Standard	NM_032223		Approved	FLJ22427	uc001oey.2	Q9H6A9	OTTHUMG00000166539	ENST00000355703.3:c.3819C>A	11.37:g.65396297C>A							p.A1273A	NM_032223.2	NP_115599.2	Q9H6A9	PCX3_HUMAN			24	4358	+			1273					Q6MZN8	Silent	SNP	ENST00000355703.3	37	c.3819C>A	CCDS44650.1																																																																																				0.677	PCNXL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390321.1	NM_032223		11	14	1	0	6.81908e-15	1	7.85537e-15	11	14				
HIST2H2AC	8338	broad.mit.edu	37	1	149858798	149858798	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:149858798G>A	ENST00000331380.2	+	1	274	c.274G>A	c.(274-276)Gag>Aag	p.E92K	BOLA1_ENST00000369153.2_5'Flank|HIST2H2BE_ENST00000369155.2_5'Flank	NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	histone cluster 2, H2ac	92						extracellular vesicular exosome (GO:0070062)|nucleosome (GO:0000786)|nucleus (GO:0005634)	DNA binding (GO:0003677)			NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20	Breast(34;0.0124)|all_hematologic(923;0.127)		STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)			CCGCAACGACGAGGAACTGAA	0.597																																						ENST00000331380.2																			0				NS(1)|breast(3)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|lung(11)|ovary(1)|skin(1)	20						c.(274-276)Gag>Aag		histone cluster 2, H2ac							68.0	69.0	68.0					1																	149858798		2203	4297	6500	SO:0001583	missense	8338				nucleosome assembly	nucleosome|nucleus	DNA binding	g.chr1:149858798G>A	AY131973	CCDS937.1	1q21.2	2011-01-27	2006-10-11	2003-02-21	ENSG00000184260	ENSG00000184260		"""Histones / Replication-dependent"""	4738	protein-coding gene	gene with protein product		602797	"""H2A histone family, member Q"", ""histone 2, H2ac"""	H2A, H2AFQ		1469070, 9439656, 12408966	Standard	NM_003517		Approved	H2A/q	uc001etd.3	Q16777	OTTHUMG00000035825	ENST00000331380.2:c.274G>A	1.37:g.149858798G>A	ENSP00000332194:p.Glu92Lys						p.E92K	NM_003517.2	NP_003508.1	Q16777	H2A2C_HUMAN	STAD - Stomach adenocarcinoma(528;0.133)|LUSC - Lung squamous cell carcinoma(543;0.221)		1	274	+	Breast(34;0.0124)|all_hematologic(923;0.127)		92					Q6DRA7|Q8IUE5	Missense_Mutation	SNP	ENST00000331380.2	37	c.274G>A	CCDS937.1	.	.	.	.	.	.	.	.	.	.	G	12.24	1.878358	0.33162	.	.	ENSG00000184260	ENST00000331380	T	0.47528	0.84	5.34	3.44	0.39384	Histone-fold (2);Histone H2A (1);	0.000000	0.44902	D	0.000420	T	0.68183	0.2973	H	0.96748	3.875	0.38548	D	0.949392	D	0.63880	0.993	D	0.65684	0.937	T	0.76239	-0.3032	10	0.87932	D	0	.	9.7166	0.40278	0.0779:0.1416:0.7806:0.0	.	92	Q16777	H2A2C_HUMAN	K	92	ENSP00000332194:E92K	ENSP00000332194:E92K	E	+	1	0	HIST2H2AC	148125422	1.000000	0.71417	0.984000	0.44739	0.041000	0.13682	7.519000	0.81809	0.619000	0.30197	-0.136000	0.14681	GAG		0.597	HIST2H2AC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000087128.1	NM_003517		37	73	0	0	0	1	0	37	73				
TUBB8P7	197331	broad.mit.edu	37	16	90161926	90161926	+	RNA	SNP	T	T	C	rs8061283	byFrequency	TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr16:90161926T>C	ENST00000564451.1	+	0	1279				TUBB8P7_ENST00000567960.1_RNA					tubulin, beta 8 class VIII pseudogene 7									p.I221T(3)									CCCACACCCATCTATGGTGAC	0.527													.|||	3140	0.626997	0.9395	0.5	5008	,	,		11330	0.7847		0.4702	False		,,,				2504	0.2935					ENST00000567960.1																			3	Substitution - Missense(3)	p.I221T(3)	kidney(2)|prostate(1)																																																197331							g.chr16:90161926T>C			16q24.3	2013-02-18			ENSG00000261812	ENSG00000261812			42345	pseudogene	pseudogene							Standard	NG_002334		Approved				OTTHUMG00000172847		16.37:g.90161926T>C						TUBB8P7_ENST00000564451.1_RNA								0	662	+									RNA	SNP	ENST00000564451.1	37																																																																																						0.527	TUBB8P7-004	KNOWN	basic	processed_transcript	polymorphic_pseudogene	OTTHUMT00000420856.1	NG_002334		3	31	0	0	0	1	0	3	31				
PRDM16	63976	broad.mit.edu	37	1	3328134	3328134	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:3328134C>A	ENST00000270722.5	+	9	1422	c.1373C>A	c.(1372-1374)gCc>gAc	p.A458D	PRDM16_ENST00000378391.2_Missense_Mutation_p.A458D|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000442529.2_Missense_Mutation_p.A458D|PRDM16_ENST00000514189.1_Missense_Mutation_p.A459D|PRDM16_ENST00000511072.1_Missense_Mutation_p.A459D|PRDM16_ENST00000441472.2_Missense_Mutation_p.A458D|PRDM16_ENST00000378398.3_Missense_Mutation_p.A459D			Q9HAZ2	PRD16_HUMAN	PR domain containing 16	458					brown fat cell differentiation (GO:0050873)|negative regulation of granulocyte differentiation (GO:0030853)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of transforming growth factor beta receptor signaling pathway (GO:0030512)|neurogenesis (GO:0022008)|palate development (GO:0060021)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cellular respiration (GO:0043457)|somatic stem cell maintenance (GO:0035019)|tongue development (GO:0043586)|transcription, DNA-templated (GO:0006351)|white fat cell differentiation (GO:0050872)	nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)	metal ion binding (GO:0046872)|sequence-specific DNA binding (GO:0043565)|transcription coactivator activity (GO:0003713)			breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)		GGCATCTTTGCCCCGGGCCTG	0.617			T	EVI1	"""MDS, AML"""																																	ENST00000378398.3				Dom	yes		1	1p36.23-p33	63976	T	PR domain containing 16			L	EVI1		"""MDS, AML"""		0				breast(4)|central_nervous_system(1)|endometrium(5)|kidney(4)|large_intestine(7)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(3)	59						c.(1375-1377)gCc>gAc		PR domain containing 16							51.0	59.0	56.0					1																	3328134		2068	4229	6297	SO:0001583	missense	63976				brown fat cell differentiation|negative regulation of granulocyte differentiation|negative regulation of transcription from RNA polymerase II promoter|negative regulation of transforming growth factor beta receptor signaling pathway|positive regulation of transcription, DNA-dependent|regulation of cellular respiration|transcription, DNA-dependent	transcriptional repressor complex	protein binding|sequence-specific DNA binding|transcription coactivator activity|zinc ion binding	g.chr1:3328134C>A	AF294278	CCDS41236.1, CCDS44048.1, CCDS41236.2, CCDS44048.2	1p36.23-p33	2013-01-08			ENSG00000142611	ENSG00000142611		"""Zinc fingers, C2H2-type"""	14000	protein-coding gene	gene with protein product	"""MDS1/EVI1-like"", ""PR-domain zinc finger protein 16"", ""transcription factor MEL1"""	605557				11050005	Standard	NM_199454		Approved	MEL1, PFM13, KIAA1675, MGC166915	uc001akf.3	Q9HAZ2	OTTHUMG00000000581	ENST00000270722.5:c.1373C>A	1.37:g.3328134C>A	ENSP00000270722:p.Ala458Asp					PRDM16_ENST00000514189.1_Missense_Mutation_p.A459D|PRDM16_ENST00000442529.2_Missense_Mutation_p.A458D|PRDM16_ENST00000378391.2_Missense_Mutation_p.A458D|PRDM16_ENST00000512462.1_3'UTR|PRDM16_ENST00000511072.1_Missense_Mutation_p.A459D|PRDM16_ENST00000270722.5_Missense_Mutation_p.A458D|PRDM16_ENST00000441472.2_Missense_Mutation_p.A458D	p.A459D			Q9HAZ2	PRD16_HUMAN		Epithelial(90;5.59e-35)|OV - Ovarian serous cystadenocarcinoma(86;1.99e-20)|GBM - Glioblastoma multiforme(42;3.72e-11)|Colorectal(212;0.000425)|BRCA - Breast invasive adenocarcinoma(365;0.000946)|COAD - Colon adenocarcinoma(227;0.000968)|Kidney(185;0.00155)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0175)|Lung(427;0.137)	10	1458	+	all_cancers(77;0.00208)|all_epithelial(69;0.000732)|Ovarian(185;0.0634)|Lung NSC(156;0.109)|all_lung(157;0.111)	all_epithelial(116;2.03e-21)|all_lung(118;7.55e-09)|Lung NSC(185;1.28e-06)|Breast(487;0.000792)|Renal(390;0.00137)|Hepatocellular(190;0.00515)|Myeloproliferative disorder(586;0.0267)|Ovarian(437;0.0365)|Lung SC(97;0.114)|Medulloblastoma(700;0.134)	458			Pro-rich.		A6NHQ8|B1AJP7|B1AJP8|B1AJP9|B1WB48|Q8WYJ9|Q9C0I8	Missense_Mutation	SNP	ENST00000270722.5	37	c.1376C>A	CCDS41236.2	.	.	.	.	.	.	.	.	.	.	C	10.73	1.431234	0.25813	.	.	ENSG00000142611	ENST00000511072;ENST00000378398;ENST00000441472;ENST00000442529;ENST00000378391;ENST00000514189;ENST00000270722;ENST00000512462;ENST00000408992;ENST00000509860	T;T;T;T;T;T;T;T;T	0.05996	3.36;3.37;3.39;3.39;3.39;3.4;3.38;3.36;3.37	5.36	5.36	0.76844	.	0.250946	0.26546	N	0.023761	T	0.12817	0.0311	M	0.62723	1.935	0.28744	N	0.901784	B;B;P;B	0.42757	0.1;0.328;0.789;0.418	B;B;P;B	0.45428	0.036;0.265;0.48;0.094	T	0.02150	-1.1205	10	0.40728	T	0.16	.	15.4535	0.75294	0.0:0.861:0.139:0.0	.	458;458;458;458	Q9HAZ2;Q9HAZ2-2;F8WEV3;D3YTA5	PRD16_HUMAN;.;.;.	D	459;459;458;458;458;459;458;274;274;267	ENSP00000426975:A459D;ENSP00000367651:A459D;ENSP00000407968:A458D;ENSP00000405253:A458D;ENSP00000367643:A458D;ENSP00000421400:A459D;ENSP00000270722:A458D;ENSP00000422504:A274D;ENSP00000425796:A267D	ENSP00000270722:A458D	A	+	2	0	PRDM16	3317994	0.455000	0.25736	0.013000	0.15412	0.144000	0.21451	2.412000	0.44609	2.530000	0.85305	0.609000	0.83330	GCC		0.617	PRDM16-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000001382.3	NM_022114		29	97	1	0	1.88708e-17	1	2.24548e-17	29	97				
NUTM2G	441457	broad.mit.edu	37	9	99697715	99697715	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr9:99697715G>A	ENST00000372322.3	+	3	840	c.819G>A	c.(817-819)atG>atA	p.M273I	NUTM2G_ENST00000354649.3_Missense_Mutation_p.M273I|HIATL2_ENST00000506067.1_Intron	NM_001170741.1	NP_001164212.1	Q5VZR2	NTM2G_HUMAN	NUT family member 2G	273																	TTGACCGGATGATTTTCTACG	0.652																																						ENST00000354649.3																			0											c.(817-819)atG>atA		NUT family member 2G							59.0	62.0	61.0					9																	99697715		2034	4195	6229	SO:0001583	missense	441457							g.chr9:99697715G>A		CCDS43854.1, CCDS55329.1	9q22.33	2013-05-02	2013-03-14	2013-05-02	ENSG00000188152	ENSG00000188152			23449	protein-coding gene	gene with protein product			"""family with sequence similarity 22, member G"""	FAM22G			Standard	NM_001045477		Approved			Q5VZR2	OTTHUMG00000020305	ENST00000372322.3:c.819G>A	9.37:g.99697715G>A	ENSP00000361397:p.Met273Ile					HIATL2_ENST00000506067.1_Intron|NUTM2G_ENST00000372322.3_Missense_Mutation_p.M273I	p.M273I	NM_001045477.2	NP_001038942.1					3	1534	+								A6NNI5|Q5VZR3	Missense_Mutation	SNP	ENST00000372322.3	37	c.819G>A	CCDS55329.1	.	.	.	.	.	.	.	.	.	.	.	13.45	2.241339	0.39598	.	.	ENSG00000188152	ENST00000354649;ENST00000372322;ENST00000375230	T;T	0.29655	1.56;1.56	1.17	1.17	0.20885	.	0.317552	0.28482	N	0.015184	T	0.32823	0.0842	M	0.73962	2.25	0.09310	N	1	P	0.45827	0.867	P	0.44811	0.461	T	0.20907	-1.0261	10	0.87932	D	0	.	5.7733	0.18265	0.0:0.0:1.0:0.0	.	273	Q5VZR2-2	.	I	273;273;154	ENSP00000346670:M273I;ENSP00000361397:M273I	ENSP00000346670:M273I	M	+	3	0	FAM22G	98737536	0.996000	0.38824	0.327000	0.25402	0.076000	0.17211	0.621000	0.24418	0.989000	0.38761	0.291000	0.19559	ATG		0.652	NUTM2G-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000053291.2	NM_001170741		36	89	0	0	0	1	0	36	89				
TDRD3	81550	broad.mit.edu	37	13	61103347	61103347	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr13:61103347A>G	ENST00000196169.3	+	11	2497	c.1709A>G	c.(1708-1710)aAc>aGc	p.N570S	TDRD3_ENST00000535286.1_Missense_Mutation_p.N663S|TDRD3_ENST00000377894.2_Missense_Mutation_p.N570S|TDRD3_ENST00000377881.2_Missense_Mutation_p.N570S	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN	tudor domain containing 3	570	Tudor. {ECO:0000255|PROSITE- ProRule:PRU00211}.				chromatin modification (GO:0016568)|regulation of RNA biosynthetic process (GO:2001141)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|methylated histone binding (GO:0035064)|poly(A) RNA binding (GO:0044822)|transcription coactivator activity (GO:0003713)			breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40		Prostate(109;0.173)|Breast(118;0.174)		GBM - Glioblastoma multiforme(99;0.000291)		TGGGAAGACAACAAGGTATGG	0.333																																					Colon(36;164 906 35820 50723)	ENST00000196169.3																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|skin(2)|stomach(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	40						c.(1708-1710)aAc>aGc		tudor domain containing 3							63.0	67.0	65.0					13																	61103347		2203	4300	6503	SO:0001583	missense	81550				chromatin modification	cytoplasm|nucleus	chromatin binding|methylated histone residue binding|nucleic acid binding|transcription coactivator activity	g.chr13:61103347A>G	AK023578	CCDS9441.1, CCDS53872.1	13q14.3	2013-01-23			ENSG00000083544	ENSG00000083544		"""Tudor domain containing"""	20612	protein-coding gene	gene with protein product		614392					Standard	NM_030794		Approved	FLJ21007	uc010aeg.3	Q9H7E2	OTTHUMG00000017007	ENST00000196169.3:c.1709A>G	13.37:g.61103347A>G	ENSP00000196169:p.Asn570Ser					TDRD3_ENST00000377881.2_Missense_Mutation_p.N570S|TDRD3_ENST00000535286.1_Missense_Mutation_p.N663S|TDRD3_ENST00000377894.2_Missense_Mutation_p.N570S	p.N570S	NM_001146071.1|NM_030794.2	NP_001139543.1|NP_110421.1	Q9H7E2	TDRD3_HUMAN		GBM - Glioblastoma multiforme(99;0.000291)	11	2497	+		Prostate(109;0.173)|Breast(118;0.174)	570			Tudor.		B2MWP9|Q53XA6|Q6P992	Missense_Mutation	SNP	ENST00000196169.3	37	c.1709A>G	CCDS9441.1	.	.	.	.	.	.	.	.	.	.	A	15.26	2.780192	0.49891	.	.	ENSG00000083544	ENST00000196169;ENST00000377881;ENST00000377894;ENST00000535286	T;T;T;T	0.09723	2.95;2.95;2.95;2.95	5.84	5.84	0.93424	Tudor subgroup (1);Maternal tudor protein (1);Tudor domain (1);	0.096276	0.85682	D	0.000000	T	0.28400	0.0702	L	0.56199	1.76	0.52501	D	0.999951	P;D;B	0.76494	0.459;0.999;0.327	B;D;B	0.70487	0.175;0.969;0.206	T	0.00338	-1.1806	10	0.37606	T	0.19	-18.9718	16.5317	0.84362	1.0:0.0:0.0:0.0	.	663;569;570	Q9H7E2-3;Q9H7E2-2;Q9H7E2	.;.;TDRD3_HUMAN	S	570;570;570;663	ENSP00000196169:N570S;ENSP00000367113:N570S;ENSP00000367126:N570S;ENSP00000440190:N663S	ENSP00000196169:N570S	N	+	2	0	TDRD3	60001348	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	6.128000	0.71650	2.367000	0.80283	0.528000	0.53228	AAC		0.333	TDRD3-201	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000045175.2	NM_030794		32	63	0	0	0	1	0	32	63				
UNC45A	55898	broad.mit.edu	37	15	91491102	91491102	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr15:91491102T>C	ENST00000418476.2	+	11	1617	c.1577T>C	c.(1576-1578)cTg>cCg	p.L526P	UNC45A_ENST00000394275.2_Missense_Mutation_p.L511P	NM_018671.3	NP_061141.2	Q9H3U1	UN45A_HUMAN	unc-45 homolog A (C. elegans)	526					cell differentiation (GO:0030154)|chaperone-mediated protein folding (GO:0061077)|muscle organ development (GO:0007517)	cytoplasm (GO:0005737)|Golgi apparatus (GO:0005794)|nucleus (GO:0005634)				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25	Lung NSC(78;0.0771)|all_lung(78;0.137)		Lung(145;0.189)			ACTCTCAAACTGGCTAAGCAG	0.572																																						ENST00000394275.2																			0				breast(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(7)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	25						c.(1531-1533)cTg>cCg		unc-45 homolog A (C. elegans)							84.0	65.0	71.0					15																	91491102		2198	4298	6496	SO:0001583	missense	55898				cell differentiation|muscle organ development	nucleus|perinuclear region of cytoplasm	protein binding	g.chr15:91491102T>C		CCDS10367.1, CCDS42082.1	15q26.1	2008-02-05			ENSG00000140553	ENSG00000140553			30594	protein-coding gene	gene with protein product	"""smooth muscle cell associated protein-1"""	611219				12356907	Standard	XM_005254963		Approved	SMAP-1, GC-UNC45	uc002bqg.3	Q9H3U1	OTTHUMG00000141261	ENST00000418476.2:c.1577T>C	15.37:g.91491102T>C	ENSP00000407487:p.Leu526Pro					UNC45A_ENST00000418476.2_Missense_Mutation_p.L526P	p.L511P	NM_001039675.1	NP_001034764.1	Q9H3U1	UN45A_HUMAN	Lung(145;0.189)		14	2367	+	Lung NSC(78;0.0771)|all_lung(78;0.137)		526					A8K6F7|Q7L3Y6|Q9H3U8|Q9NSE8|Q9NSE9	Missense_Mutation	SNP	ENST00000418476.2	37	c.1532T>C	CCDS10367.1	.	.	.	.	.	.	.	.	.	.	T	22.1	4.248147	0.80024	.	.	ENSG00000140553	ENST00000394275;ENST00000418476	T;T	0.69685	-0.42;-0.42	4.97	4.97	0.65823	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	D	0.84428	0.5470	M	0.90252	3.1	0.80722	D	1	D;D	0.76494	0.999;0.999	D;D	0.85130	0.997;0.997	D	0.87483	0.2422	10	0.59425	D	0.04	-16.1106	14.8613	0.70384	0.0:0.0:0.0:1.0	.	526;511	Q9H3U1;A8K6F7	UN45A_HUMAN;.	P	511;526	ENSP00000377816:L511P;ENSP00000407487:L526P	ENSP00000377816:L511P	L	+	2	0	UNC45A	89292106	1.000000	0.71417	1.000000	0.80357	0.990000	0.78478	7.792000	0.85828	2.098000	0.63641	0.456000	0.33151	CTG		0.572	UNC45A-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280406.2	NM_018671		13	36	0	0	0	1	0	13	36				
ZNF772	400720	broad.mit.edu	37	19	57985623	57985623	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:57985623C>A	ENST00000343280.4	-	5	749	c.489G>T	c.(487-489)caG>caT	p.Q163H	ZNF772_ENST00000425074.3_3'UTR|ZNF772_ENST00000600175.1_Intron|AC004076.9_ENST00000415705.3_Intron|ZNF772_ENST00000601768.1_Intron|AC004076.9_ENST00000596831.1_Intron|ZNF772_ENST00000427512.2_Missense_Mutation_p.Q51H|ZNF772_ENST00000356584.3_Missense_Mutation_p.Q122H	NM_001024596.2	NP_001019767.1	Q68DY9	ZN772_HUMAN	zinc finger protein 772	163					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|endometrium(1)|large_intestine(4)|lung(3)	9		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174)		GGTGTGTTTCCTGGTGCTCAG	0.517																																					Melanoma(5;289 436 14293 15924 30817)	ENST00000343280.4																			0				breast(1)|endometrium(1)|large_intestine(4)|lung(3)	9						c.(487-489)caG>caT		zinc finger protein 772							117.0	107.0	110.0					19																	57985623		2203	4300	6503	SO:0001583	missense	400720				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr19:57985623C>A	BX647068	CCDS33133.1, CCDS46210.1	19q13.43	2013-01-08				ENSG00000197128		"""Zinc fingers, C2H2-type"", ""-"""	33106	protein-coding gene	gene with protein product							Standard	NM_001024596		Approved	DKFZp686I1569	uc002qot.3	Q68DY9		ENST00000343280.4:c.489G>T	19.37:g.57985623C>A	ENSP00000341165:p.Gln163His					ZNF772_ENST00000600175.1_Intron|AC004076.9_ENST00000596831.1_Intron|ZNF772_ENST00000601768.1_Intron|ZNF772_ENST00000427512.2_Missense_Mutation_p.Q51H|ZNF772_ENST00000425074.3_3'UTR|AC004076.9_ENST00000415705.3_Intron|ZNF772_ENST00000356584.3_Missense_Mutation_p.Q122H	p.Q163H	NM_001024596.2	NP_001019767.1	Q68DY9	ZN772_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.168)|GBM - Glioblastoma multiforme(193;0.026)|Lung(386;0.174)	5	749	-		Colorectal(82;0.000256)|all_neural(62;0.0577)|Ovarian(87;0.221)	163					A6NJK9|B4DH56|B4DYS0	Missense_Mutation	SNP	ENST00000343280.4	37	c.489G>T	CCDS33133.1	.	.	.	.	.	.	.	.	.	.	C	17.53	3.413797	0.62511	.	.	ENSG00000197128	ENST00000343280;ENST00000427512;ENST00000319969;ENST00000356584	T;T;T	0.07567	3.18;3.18;3.18	3.99	0.429	0.16506	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (2);Zinc finger, C2H2-type/integrase, DNA-binding (1);	.	.	.	.	T	0.12987	0.0315	L	0.48218	1.51	0.80722	D	1	P;P;P	0.44309	0.799;0.697;0.832	P;B;P	0.54460	0.639;0.436;0.753	T	0.10200	-1.0640	9	0.62326	D	0.03	.	4.9403	0.13961	0.1669:0.6371:0.0:0.196	.	51;122;163	Q68DY9-2;A6NJK9;Q68DY9	.;.;ZN772_HUMAN	H	163;51;109;122	ENSP00000341165:Q163H;ENSP00000395967:Q51H;ENSP00000348992:Q122H	ENSP00000321015:Q109H	Q	-	3	2	ZNF772	62677435	0.031000	0.19500	0.214000	0.23707	0.977000	0.68977	1.043000	0.30316	0.015000	0.14971	0.491000	0.48974	CAG		0.517	ZNF772-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000397447.1	NM_001024596		24	63	1	0	4.87955e-14	1	5.58964e-14	24	63				
IL12A-AS1	101928376	broad.mit.edu	37	3	159820331	159820331	+	RNA	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr3:159820331C>A	ENST00000497452.1	-	0	517									IL12A antisense RNA 1																		AGACCCCCTCCCAACATGATC	0.463																																						ENST00000497452.1																			0																																																			101928376							g.chr3:159820331C>A	AK097161		3q25.33	2013-09-02			ENSG00000244040	ENSG00000244040		"""Long non-coding RNAs"""	49094	non-coding RNA	RNA, long non-coding							Standard	NR_108088		Approved				OTTHUMG00000158951		3.37:g.159820331C>A														0	517	-									RNA	SNP	ENST00000497452.1	37																																																																																						0.463	IL12A-AS1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000352647.1			7	29	1	0	8.12818e-05	1	8.41603e-05	7	29				
FOXK2	3607	broad.mit.edu	37	17	80559213	80559213	+	Silent	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:80559213C>T	ENST00000335255.5	+	9	1995	c.1821C>T	c.(1819-1821)caC>caT	p.H607H	FOXK2_ENST00000529652.1_3'UTR|RP13-638C3.4_ENST00000576912.1_RNA	NM_004514.3	NP_004505.2	Q01167	FOXK2_HUMAN	forkhead box K2	607					positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	intracellular membrane-bounded organelle (GO:0043231)|nucleus (GO:0005634)	magnesium ion binding (GO:0000287)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17	Breast(20;0.00106)|all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)			TGGCAACACACGCATCCGCAT	0.627																																						ENST00000335255.5																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(5)|prostate(1)|urinary_tract(1)	17						c.(1819-1821)caC>caT		forkhead box K2							97.0	80.0	85.0					17																	80559213		2203	4300	6503	SO:0001819	synonymous_variant	3607				embryo development|pattern specification process|regulation of sequence-specific DNA binding transcription factor activity|regulation of transcription from RNA polymerase II promoter|tissue development	transcription factor complex	DNA bending activity|double-stranded DNA binding|magnesium ion binding|promoter binding|sequence-specific DNA binding|sequence-specific enhancer binding RNA polymerase II transcription factor activity|specific RNA polymerase II transcription factor activity|specific transcriptional repressor activity|transcription activator activity|transcription factor binding	g.chr17:80559213C>T	U58196	CCDS11813.1	17q25	2006-12-15	2004-03-09	2004-03-10	ENSG00000141568	ENSG00000141568		"""Forkhead boxes"""	6036	protein-coding gene	gene with protein product		147685	"""interleukin enhancer binding factor 1"""	ILF, ILF1		3260003	Standard	NM_004514		Approved		uc002kfn.3	Q01167	OTTHUMG00000140374	ENST00000335255.5:c.1821C>T	17.37:g.80559213C>T						FOXK2_ENST00000529652.1_3'UTR	p.H607H	NM_004514.3	NP_004505.2	Q01167	FOXK2_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0371)|BRCA - Breast invasive adenocarcinoma(99;0.0415)		9	1995	+	Breast(20;0.00106)|all_neural(118;0.0952)		607					A6NEP5|Q13622|Q13623|Q13624	Silent	SNP	ENST00000335255.5	37	c.1821C>T	CCDS11813.1	.	.	.	.	.	.	.	.	.	.	C	1.256	-0.617079	0.03663	.	.	ENSG00000141568	ENST00000335241	.	.	.	5.09	-3.0	0.05480	.	.	.	.	.	T	0.60038	0.2238	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.63655	-0.6588	5	0.72032	D	0.01	.	8.5529	0.33462	0.0:0.4634:0.0976:0.439	.	.	.	.	C	315	.	ENSP00000334321:R315C	R	+	1	0	FOXK2	78152502	0.327000	0.24678	0.636000	0.29352	0.015000	0.08874	-0.415000	0.07106	-0.335000	0.08451	-0.137000	0.14449	CGC		0.627	FOXK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000277099.2	NM_181430		22	58	0	0	0	1	0	22	58				
CCDC178	374864	broad.mit.edu	37	18	30791983	30791983	+	Silent	SNP	A	A	G	rs143104022		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr18:30791983A>G	ENST00000383096.3	-	20	2297	c.2115T>C	c.(2113-2115)caT>caC	p.H705H	CCDC178_ENST00000583930.1_Silent_p.H705H|CCDC178_ENST00000402325.1_Silent_p.H705H|CCDC178_ENST00000579916.1_Intron|CCDC178_ENST00000579947.1_Silent_p.H705H|CCDC178_ENST00000300227.8_Silent_p.H667H|CCDC178_ENST00000403303.1_Silent_p.H705H|CCDC178_ENST00000406524.2_Silent_p.H705H			Q5BJE1	CC178_HUMAN	coiled-coil domain containing 178	705																	CAGTTTGTGCATGTTCCCTTT	0.323																																						ENST00000383096.3																			0											c.(2113-2115)caT>caC		coiled-coil domain containing 178							80.0	77.0	78.0					18																	30791983		2200	4297	6497	SO:0001819	synonymous_variant	374864							g.chr18:30791983A>G	AK126038	CCDS11906.1, CCDS42424.1	18q12.1	2012-10-15	2012-10-15	2012-10-15	ENSG00000166960	ENSG00000166960			29588	protein-coding gene	gene with protein product			"""chromosome 18 open reading frame 34"""	C18orf34			Standard	NM_198995		Approved	FLJ44050	uc002kxn.2	Q5BJE1	OTTHUMG00000132279	ENST00000383096.3:c.2115T>C	18.37:g.30791983A>G						CCDC178_ENST00000403303.1_Silent_p.H705H|CCDC178_ENST00000402325.1_Silent_p.H705H|CCDC178_ENST00000300227.8_Silent_p.H667H|CCDC178_ENST00000579947.1_Silent_p.H705H|CCDC178_ENST00000583930.1_Silent_p.H705H|CCDC178_ENST00000406524.2_Silent_p.H705H|CCDC178_ENST00000579916.1_Intron	p.H705H							20	2297	-								A6NDC6|J3KS92|Q6ZP67|Q6ZU20	Silent	SNP	ENST00000383096.3	37	c.2115T>C	CCDS42424.1																																																																																				0.323	CCDC178-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255373.2	NM_198995		3	9	0	0	0	1	0	3	9				
DNM1	1759	broad.mit.edu	37	9	130982471	130982471	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr9:130982471G>T	ENST00000372923.3	+	6	792	c.700G>T	c.(700-702)Gtg>Ttg	p.V234L	DNM1_ENST00000393594.3_Missense_Mutation_p.V234L|DNM1_ENST00000475805.1_Missense_Mutation_p.V234L|DNM1_ENST00000341179.7_Missense_Mutation_p.V234L|DNM1_ENST00000486160.1_Missense_Mutation_p.V234L	NM_004408.2	NP_004399.2	Q05193	DYN1_HUMAN	dynamin 1	234	Dynamin-type G.				endocytosis (GO:0006897)|endosome organization (GO:0007032)|GTP catabolic process (GO:0006184)|receptor internalization (GO:0031623)|receptor-mediated endocytosis (GO:0006898)	extracellular vesicular exosome (GO:0070062)|membrane coat (GO:0030117)|microtubule (GO:0005874)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|identical protein binding (GO:0042802)|poly(A) RNA binding (GO:0044822)|protein kinase binding (GO:0019901)			breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						CTACATTGGAGTGGTGAACCG	0.567																																					GBM(113;146 1575 2722 28670 29921)	ENST00000341179.7																			0				breast(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(15)|lung(6)|ovary(2)|urinary_tract(2)	32						c.(700-702)Gtg>Ttg		dynamin 1							153.0	143.0	147.0					9																	130982471		2203	4300	6503	SO:0001583	missense	1759				receptor-mediated endocytosis	microtubule	GTP binding|GTPase activity	g.chr9:130982471G>T	L07807	CCDS6895.1, CCDS43882.1, CCDS75911.1, CCDS75912.1	9q34	2013-01-10			ENSG00000106976	ENSG00000106976		"""Pleckstrin homology (PH) domain containing"""	2972	protein-coding gene	gene with protein product		602377		DNM		2144893, 9143509	Standard	XM_005251763		Approved		uc022bob.1	Q05193	OTTHUMG00000020733	ENST00000372923.3:c.700G>T	9.37:g.130982471G>T	ENSP00000362014:p.Val234Leu					DNM1_ENST00000372923.3_Missense_Mutation_p.V234L|DNM1_ENST00000486160.1_Missense_Mutation_p.V234L|DNM1_ENST00000475805.1_Missense_Mutation_p.V234L|DNM1_ENST00000393594.3_Missense_Mutation_p.V234L	p.V234L	NM_001005336.1	NP_001005336.1	Q05193	DYN1_HUMAN			6	792	+			234					A6NLM6|Q5SYX0|Q5SYX2|Q6P3T6|Q86VD2	Missense_Mutation	SNP	ENST00000372923.3	37	c.700G>T	CCDS6895.1	.	.	.	.	.	.	.	.	.	.	G	20.3	3.963627	0.74016	.	.	ENSG00000106976	ENST00000475805;ENST00000341179;ENST00000372923;ENST00000393589;ENST00000393594;ENST00000486160	D;D;D;D;D	0.86432	-2.12;-2.12;-2.12;-2.12;-2.12	5.71	5.71	0.89125	Dynamin, GTPase domain (1);Dynamin central domain (1);	0.000000	0.85682	D	0.000000	D	0.91630	0.7355	H	0.94620	3.56	0.80722	D	1	B;B;B	0.29212	0.107;0.087;0.237	B;B;B	0.27170	0.077;0.026;0.069	D	0.91067	0.4890	10	0.87932	D	0	-36.826	19.8432	0.96699	0.0:0.0:1.0:0.0	.	234;234;234	Q05193;Q05193-3;Q05193-2	DYN1_HUMAN;.;.	L	234;234;234;229;234;234	ENSP00000419225:V234L;ENSP00000345680:V234L;ENSP00000362014:V234L;ENSP00000377219:V234L;ENSP00000420045:V234L	ENSP00000345680:V234L	V	+	1	0	DNM1	130022292	1.000000	0.71417	1.000000	0.80357	0.888000	0.51559	9.835000	0.99442	2.700000	0.92200	0.462000	0.41574	GTG		0.567	DNM1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054367.1	NM_004408		47	107	1	0	2.43139e-17	1	2.88757e-17	47	107				
PIK3CD	5293	broad.mit.edu	37	1	9775659	9775659	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:9775659T>C	ENST00000377346.4	+	4	397	c.202T>C	c.(202-204)Tat>Cat	p.Y68H	PIK3CD_ENST00000536656.1_Missense_Mutation_p.Y68H|PIK3CD_ENST00000543390.1_5'Flank|PIK3CD_ENST00000361110.2_Missense_Mutation_p.Y68H	NM_005026.3	NP_005017.3	O00329	PK3CD_HUMAN	phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta	68	PI3K-ABD. {ECO:0000255|PROSITE- ProRule:PRU00877}.				adaptive immune response (GO:0002250)|B cell activation (GO:0042113)|B cell chemotaxis (GO:0035754)|B cell homeostasis (GO:0001782)|B cell receptor signaling pathway (GO:0050853)|cytokine production (GO:0001816)|epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|mast cell chemotaxis (GO:0002551)|mast cell degranulation (GO:0043303)|mast cell differentiation (GO:0060374)|natural killer cell activation (GO:0030101)|natural killer cell chemotaxis (GO:0035747)|natural killer cell differentiation (GO:0001779)|neurotrophin TRK receptor signaling pathway (GO:0048011)|neutrophil chemotaxis (GO:0030593)|neutrophil extravasation (GO:0072672)|phosphatidylinositol 3-kinase signaling (GO:0014065)|phosphatidylinositol biosynthetic process (GO:0006661)|phosphatidylinositol-3-phosphate biosynthetic process (GO:0036092)|phosphatidylinositol-mediated signaling (GO:0048015)|phospholipid metabolic process (GO:0006644)|protein phosphorylation (GO:0006468)|respiratory burst involved in defense response (GO:0002679)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|T cell activation (GO:0042110)|T cell chemotaxis (GO:0010818)|T cell differentiation (GO:0030217)|T cell receptor signaling pathway (GO:0050852)	cytosol (GO:0005829)|mast cell granule (GO:0042629)|phosphatidylinositol 3-kinase complex (GO:0005942)|plasma membrane (GO:0005886)	1-phosphatidylinositol-3-kinase activity (GO:0016303)|1-phosphatidylinositol-4-phosphate 3-kinase activity (GO:0035005)|ATP binding (GO:0005524)|phosphatidylinositol 3-kinase activity (GO:0035004)|phosphatidylinositol-4,5-bisphosphate 3-kinase activity (GO:0046934)			central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	Caffeine(DB00201)	CCCCGAGGCCTATGTGTTCAC	0.647																																						ENST00000536656.1																			0				central_nervous_system(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(5)|lung(12)|pancreas(1)|skin(2)|upper_aerodigestive_tract(1)	31						c.(202-204)Tat>Cat		phosphatidylinositol-4,5-bisphosphate 3-kinase, catalytic subunit delta							65.0	61.0	63.0					1																	9775659		2203	4300	6503	SO:0001583	missense	5293				phosphatidylinositol-mediated signaling|protein phosphorylation	phosphatidylinositol 3-kinase complex|plasma membrane	1-phosphatidylinositol-3-kinase activity|ATP binding|phosphatidylinositol-4,5-bisphosphate 3-kinase activity|protein binding	g.chr1:9775659T>C		CCDS104.1	1p36.2	2014-09-17	2012-07-13		ENSG00000171608	ENSG00000171608	2.7.1.153		8977	protein-coding gene	gene with protein product	"""phosphatidylinositol 3-kinase, catalytic, delta polypeptide"", ""phosphoinositide-3-kinase C"""	602839	"""phosphoinositide-3-kinase, catalytic, delta polypeptide"""			9113989, 9455486	Standard	NM_005026		Approved	p110D	uc001aqb.4	O00329	OTTHUMG00000001450	ENST00000377346.4:c.202T>C	1.37:g.9775659T>C	ENSP00000366563:p.Tyr68His					PIK3CD_ENST00000377346.4_Missense_Mutation_p.Y68H|PIK3CD_ENST00000361110.2_Missense_Mutation_p.Y68H	p.Y68H			O00329	PK3CD_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0231)|Colorectal(212;7.52e-08)|COAD - Colon adenocarcinoma(227;1.78e-05)|Kidney(185;0.000322)|KIRC - Kidney renal clear cell carcinoma(229;0.00114)|BRCA - Breast invasive adenocarcinoma(304;0.0021)|STAD - Stomach adenocarcinoma(132;0.00395)|READ - Rectum adenocarcinoma(331;0.0419)	4	410	+	all_lung(157;0.222)	all_lung(118;2.44e-05)|Lung NSC(185;4.08e-05)|Renal(390;0.000147)|Colorectal(325;0.00205)|Breast(348;0.00314)|Hepatocellular(190;0.00825)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	68					A6NCG0|G1FFP1|O15445|Q5SR49	Missense_Mutation	SNP	ENST00000377346.4	37	c.202T>C	CCDS104.1	.	.	.	.	.	.	.	.	.	.	T	33	5.271062	0.95429	.	.	ENSG00000171608	ENST00000536656;ENST00000377346;ENST00000361110;ENST00000360563	D;D;D	0.85955	-2.05;-2.05;-2.05	6.04	6.04	0.98038	Phosphatidylinositol 3-kinase, p85-binding (2);	0.000000	0.85682	D	0.000000	D	0.89079	0.6613	L	0.58101	1.795	0.80722	D	1	D;D;P	0.56287	0.975;0.965;0.584	P;P;P	0.57371	0.766;0.819;0.539	D	0.89568	0.3811	10	0.59425	D	0.04	-36.2932	14.8183	0.70052	0.0:0.0:0.0:1.0	.	68;68;68	B7ZM44;Q5SR50;O00329	.;.;PK3CD_HUMAN	H	68	ENSP00000446444:Y68H;ENSP00000366563:Y68H;ENSP00000354410:Y68H	ENSP00000353766:Y68H	Y	+	1	0	PIK3CD	9698246	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	7.649000	0.83500	2.317000	0.78254	0.460000	0.39030	TAT		0.647	PIK3CD-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000004235.1	NM_005026		23	49	0	0	0	1	0	23	49				
TMEM126A	84233	broad.mit.edu	37	11	85365269	85365269	+	Silent	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:85365269C>T	ENST00000304511.2	+	3	358	c.249C>T	c.(247-249)taC>taT	p.Y83Y	TMEM126A_ENST00000532180.1_Silent_p.Y13Y|TMEM126A_ENST00000528105.1_Silent_p.Y13Y	NM_032273.3	NP_115649.1	Q9H061	T126A_HUMAN	transmembrane protein 126A	83					optic nerve development (GO:0021554)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)				breast(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(2)|stomach(1)	7		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)				ACTTAACTTACAGATGTTTTG	0.378																																						ENST00000304511.2																			0				breast(1)|endometrium(1)|large_intestine(1)|lung(1)|ovary(2)|stomach(1)	7						c.(247-249)taC>taT		transmembrane protein 126A							124.0	118.0	120.0					11																	85365269		2203	4299	6502	SO:0001819	synonymous_variant	84233					integral to membrane|mitochondrion		g.chr11:85365269C>T		CCDS8268.1, CCDS58165.1	11q14.1	2011-03-25			ENSG00000171202	ENSG00000171202			25382	protein-coding gene	gene with protein product		612988				11230166	Standard	NM_032273		Approved	DKFZp586C1924, OPA7	uc001par.3	Q9H061	OTTHUMG00000166975	ENST00000304511.2:c.249C>T	11.37:g.85365269C>T						TMEM126A_ENST00000528105.1_Silent_p.Y13Y|TMEM126A_ENST00000532180.1_Silent_p.Y13Y	p.Y83Y	NM_032273.3	NP_115649.1	Q9H061	T126A_HUMAN			3	358	+		Acute lymphoblastic leukemia(157;4.88e-06)|all_hematologic(158;0.00572)	83					B2R570|E9PI16	Silent	SNP	ENST00000304511.2	37	c.249C>T	CCDS8268.1																																																																																				0.378	TMEM126A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000392177.1	NM_032273		18	59	0	0	0	1	0	18	59				
IPO13	9670	broad.mit.edu	37	1	44422003	44422003	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:44422003C>A	ENST00000372343.3	+	3	1495	c.833C>A	c.(832-834)aCa>aAa	p.T278K	IPO13_ENST00000492152.1_3'UTR	NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN	importin 13	278					protein import into nucleus (GO:0006606)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)				TACGTGAACACACTCCTGAAA	0.532																																						ENST00000372343.3																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|kidney(4)|large_intestine(6)|lung(13)|ovary(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	40						c.(832-834)aCa>aAa		importin 13							66.0	64.0	65.0					1																	44422003		2203	4300	6503	SO:0001583	missense	9670				protein import into nucleus	cytoplasm|nucleus	protein binding|protein transporter activity	g.chr1:44422003C>A	AB018267	CCDS503.1	1p34.1	2008-02-05			ENSG00000117408	ENSG00000117408		"""Importins"""	16853	protein-coding gene	gene with protein product		610411				9872452, 11447110	Standard	NM_014652		Approved	IMP13, KIAA0724, RANBP13	uc001ckx.3	O94829	OTTHUMG00000008297	ENST00000372343.3:c.833C>A	1.37:g.44422003C>A	ENSP00000361418:p.Thr278Lys					IPO13_ENST00000492152.1_3'UTR	p.T278K	NM_014652.3	NP_055467.3	O94829	IPO13_HUMAN			3	1495	+	Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0821)	278					D3DPY4|Q5T4X3|Q7LC04|Q96HS3|Q9H8N3|Q9UFR1	Missense_Mutation	SNP	ENST00000372343.3	37	c.833C>A	CCDS503.1	.	.	.	.	.	.	.	.	.	.	C	15.35	2.806738	0.50421	.	.	ENSG00000117408	ENST00000372343	.	.	.	5.87	4.95	0.65309	Armadillo-like helical (1);Armadillo-type fold (1);	0.000000	0.85682	D	0.000000	T	0.62962	0.2471	L	0.58810	1.83	0.80722	D	1	D	0.59767	0.986	P	0.53062	0.717	T	0.56547	-0.7961	9	0.18276	T	0.48	-21.5327	15.4014	0.74843	0.0:0.9324:0.0:0.0676	.	278	O94829	IPO13_HUMAN	K	278	.	ENSP00000361418:T278K	T	+	2	0	IPO13	44194590	1.000000	0.71417	1.000000	0.80357	0.684000	0.39900	6.039000	0.70972	2.792000	0.96026	0.609000	0.83330	ACA		0.532	IPO13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000022846.1	NM_014652		10	20	1	0	2.68362e-12	1	3.02338e-12	10	20				
COL22A1	169044	broad.mit.edu	37	8	139606317	139606317	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr8:139606317G>T	ENST00000303045.6	-	63	5004	c.4558C>A	c.(4558-4560)Cca>Aca	p.P1520T	COL22A1_ENST00000435777.1_Missense_Mutation_p.P1500T|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1520	Collagen-like 15.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			GGACGACCTGGCTCCCCCATG	0.647										HNSCC(7;0.00092)																												ENST00000303045.6																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211						c.(4558-4560)Cca>Aca		collagen, type XXII, alpha 1							29.0	32.0	31.0					8																	139606317		2203	4300	6503	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139606317G>T	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.4558C>A	8.37:g.139606317G>T	ENSP00000303153:p.Pro1520Thr	HNSCC(7;0.00092)				COL22A1_ENST00000435777.1_Missense_Mutation_p.P1500T|COL22A1_ENST00000341807.4_5'UTR	p.P1520T	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		63	5004	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1520			Collagen-like 15.|Gly-rich.|Pro-rich.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.4558C>A	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	G	20.8	4.042811	0.75732	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.94184	-3.37;-3.37	5.92	5.92	0.95590	.	0.000000	0.49916	D	0.000133	D	0.95629	0.8579	L	0.59967	1.855	0.80722	D	1	P;D	0.89917	0.641;1.0	P;D	0.91635	0.598;0.999	D	0.92740	0.6207	10	0.14252	T	0.57	.	19.3538	0.94402	0.0:0.0:1.0:0.0	.	1500;1520	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	T	1520;1500;1213	ENSP00000303153:P1520T;ENSP00000387655:P1500T	ENSP00000303153:P1520T	P	-	1	0	COL22A1	139675499	1.000000	0.71417	1.000000	0.80357	0.963000	0.63663	7.538000	0.82048	2.820000	0.97059	0.650000	0.86243	CCA		0.647	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		26	36	1	0	2.79863e-10	1	3.09058e-10	26	36				
XPO5	57510	broad.mit.edu	37	6	43492366	43492366	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr6:43492366C>A	ENST00000265351.7	-	31	3530	c.3320G>T	c.(3319-3321)aGg>aTg	p.R1107M	POLR1C_ENST00000304004.3_Intron	NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	exportin 5	1107					gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|protein export from nucleus (GO:0006611)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|protein transporter activity (GO:0008565)|RNA binding (GO:0003723)|tRNA binding (GO:0000049)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)			CTCCAGGTACCTGGGGCGCTG	0.483																																						ENST00000265351.7																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(2)|kidney(8)|large_intestine(4)|lung(10)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	34						c.(3319-3321)aGg>aTg		exportin 5							126.0	126.0	126.0					6																	43492366		1910	4123	6033	SO:0001583	missense	57510				gene silencing by RNA	cytosol|nucleoplasm	protein binding|tRNA binding	g.chr6:43492366C>A	AB033117	CCDS47430.1	6p21.1	2011-04-13			ENSG00000124571	ENSG00000124571		"""Exportins"""	17675	protein-coding gene	gene with protein product		607845				11777942, 12426392	Standard	NM_020750		Approved	KIAA1291	uc003ovp.3	Q9HAV4	OTTHUMG00000014742	ENST00000265351.7:c.3320G>T	6.37:g.43492366C>A	ENSP00000265351:p.Arg1107Met					POLR1C_ENST00000304004.3_Intron	p.R1107M	NM_020750.2	NP_065801.1	Q9HAV4	XPO5_HUMAN	all cancers(41;0.000321)|Colorectal(64;0.00245)|COAD - Colon adenocarcinoma(64;0.00536)|OV - Ovarian serous cystadenocarcinoma(102;0.0524)		31	3530	-	all_cancers(18;2.08e-05)|Lung NSC(15;0.000907)|all_lung(25;0.00243)		1107					Q5JTE6|Q96G48|Q96HN3|Q9BWM6|Q9BZV5|Q9H9M4|Q9NT89|Q9NW39|Q9ULC9	Missense_Mutation	SNP	ENST00000265351.7	37	c.3320G>T	CCDS47430.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	22.7|22.7	4.324619|4.324619	0.81580|0.81580	.|.	.|.	ENSG00000124571|ENSG00000124571	ENST00000455285|ENST00000265351;ENST00000372258;ENST00000439465	.|T	.|0.37235	.|1.21	6.06|6.06	5.19|5.19	0.71726|0.71726	.|Armadillo-type fold (1);	.|0.048379	.|0.85682	.|D	.|0.000000	T|T	0.39091|0.39091	0.1065|0.1065	L|L	0.60455|0.60455	1.87|1.87	0.53688|0.53688	D|D	0.999976|0.999976	.|D	.|0.76494	.|0.999	.|P	.|0.59703	.|0.862	T|T	0.35822|0.35822	-0.9773|-0.9773	5|10	.|0.52906	.|T	.|0.07	-13.3659|-13.3659	11.4229|11.4229	0.49993|0.49993	0.0:0.8628:0.0:0.1372|0.0:0.8628:0.0:0.1372	.|.	.|1107	.|Q9HAV4	.|XPO5_HUMAN	C|M	222|1107;647;735	.|ENSP00000265351:R1107M	.|ENSP00000265351:R1107M	G|R	-|-	1|2	0|0	XPO5|XPO5	43600344|43600344	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.880000|0.880000	0.50808|0.50808	3.678000|3.678000	0.54627|0.54627	1.581000|1.581000	0.49865|0.49865	-0.140000|-0.140000	0.14226|0.14226	GGT|AGG		0.483	XPO5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000040657.2	NM_020750		31	78	1	0	6.53348e-20	1	7.91234e-20	31	78				
FNDC1	84624	broad.mit.edu	37	6	159653322	159653322	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr6:159653322G>A	ENST00000297267.9	+	11	1978	c.1778G>A	c.(1777-1779)cGa>cAa	p.R593Q	FNDC1_ENST00000340366.6_Missense_Mutation_p.R530Q	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN	fibronectin type III domain containing 1	593					cellular response to hypoxia (GO:0071456)|positive regulation of cardiac muscle cell apoptotic process (GO:0010666)|positive regulation of protein phosphorylation (GO:0001934)|regulation of protein transport (GO:0051223)	cell-cell junction (GO:0005911)|extracellular region (GO:0005576)|mitochondrial membrane (GO:0031966)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)		GCGCTGCCCCGAAGGGAAGGC	0.697																																						ENST00000297267.9																			0				NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(3)|kidney(2)|large_intestine(29)|liver(2)|lung(23)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(3)	93						c.(1777-1779)cGa>cAa		fibronectin type III domain containing 1							19.0	24.0	23.0					6																	159653322		2022	4176	6198	SO:0001583	missense	84624					extracellular region		g.chr6:159653322G>A	AB058769	CCDS47512.1	6q25	2013-02-11			ENSG00000164694	ENSG00000164694		"""Fibronectin type III domain containing"""	21184	protein-coding gene	gene with protein product		609991	"""fibronectin type III domain containing 2"""	FNDC2		11347906	Standard	NM_032532		Approved	bA243O10.1, KIAA1866, dJ322A24.1	uc010kjv.3	Q4ZHG4	OTTHUMG00000015927	ENST00000297267.9:c.1778G>A	6.37:g.159653322G>A	ENSP00000297267:p.Arg593Gln					FNDC1_ENST00000340366.6_Missense_Mutation_p.R530Q	p.R593Q	NM_032532.2	NP_115921.2	Q4ZHG4	FNDC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(65;2.6e-16)|BRCA - Breast invasive adenocarcinoma(81;1.06e-05)	11	1978	+		Breast(66;0.000781)|Ovarian(120;0.0308)|Prostate(117;0.195)	593					A6H8X2|B7ZBR4|B7ZBR5|B9EK49|Q5JPI0|Q5VU31|Q5VU32|Q5VXX4|Q70CQ6|Q96JG1	Missense_Mutation	SNP	ENST00000297267.9	37	c.1778G>A	CCDS47512.1	.	.	.	.	.	.	.	.	.	.	G	12.39	1.922260	0.33908	.	.	ENSG00000164694	ENST00000297267;ENST00000340366	T;T	0.08008	3.14;4.01	5.44	-2.75	0.05914	.	1.055960	0.07407	N	0.891809	T	0.01765	0.0056	L	0.34521	1.04	0.09310	N	1	B;B	0.13145	0.007;0.002	B;B	0.10450	0.005;0.001	T	0.48328	-0.9045	10	0.33141	T	0.24	-1.4043	6.1204	0.20150	0.2727:0.3424:0.3849:0.0	.	530;593	Q4ZHG4-2;Q4ZHG4	.;FNDC1_HUMAN	Q	593;530	ENSP00000297267:R593Q;ENSP00000342460:R530Q	ENSP00000297267:R593Q	R	+	2	0	FNDC1	159573312	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.208000	0.17415	-0.235000	0.09767	-0.812000	0.03155	CGA		0.697	FNDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000042897.3	NM_032532		6	14	0	0	0	1	0	6	14				
TTLL5	23093	broad.mit.edu	37	14	76231057	76231057	+	Missense_Mutation	SNP	G	G	T	rs374016756		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr14:76231057G>T	ENST00000298832.9	+	19	1855	c.1650G>T	c.(1648-1650)gaG>gaT	p.E550D	TTLL5_ENST00000555422.1_3'UTR|TTLL5_ENST00000557636.1_Missense_Mutation_p.E564D|TTLL5_ENST00000554510.1_Missense_Mutation_p.E59D|TTLL5_ENST00000556893.1_Missense_Mutation_p.E101D	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN	tubulin tyrosine ligase-like family, member 5	550					fertilization (GO:0009566)|protein polyglutamylation (GO:0018095)|sperm axoneme assembly (GO:0007288)|sperm motility (GO:0030317)|transcription, DNA-templated (GO:0006351)	centrosome (GO:0005813)|cilium (GO:0005929)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)			NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50				BRCA - Breast invasive adenocarcinoma(234;0.029)		TGTCTCTGGAGGTGCGAAAAC	0.502																																						ENST00000298832.9																			0				NS(2)|breast(2)|central_nervous_system(2)|endometrium(5)|haematopoietic_and_lymphoid_tissue(4)|kidney(1)|large_intestine(3)|lung(22)|ovary(2)|pancreas(1)|prostate(2)|skin(2)|urinary_tract(2)	50						c.(1648-1650)gaG>gaT		tubulin tyrosine ligase-like family, member 5							128.0	115.0	119.0					14																	76231057		2203	4300	6503	SO:0001583	missense	23093				protein modification process|transcription, DNA-dependent	centrosome|cilium|microtubule basal body|nucleus	tubulin-tyrosine ligase activity	g.chr14:76231057G>T	AF107885	CCDS32124.1	14q24.3	2014-09-09	2005-07-29	2005-07-29	ENSG00000119685	ENSG00000119685		"""Tubulin tyrosine ligase-like family"""	19963	protein-coding gene	gene with protein product		612268	"""KIAA0998"""	KIAA0998		15890843	Standard	NM_015072		Approved		uc001xrx.3	Q6EMB2	OTTHUMG00000171611	ENST00000298832.9:c.1650G>T	14.37:g.76231057G>T	ENSP00000298832:p.Glu550Asp					TTLL5_ENST00000555422.1_3'UTR|TTLL5_ENST00000557636.1_Missense_Mutation_p.E564D|TTLL5_ENST00000554510.1_Missense_Mutation_p.E59D|TTLL5_ENST00000556893.1_Missense_Mutation_p.E101D	p.E550D	NM_015072.4	NP_055887.3	Q6EMB2	TTLL5_HUMAN		BRCA - Breast invasive adenocarcinoma(234;0.029)	19	1855	+			550					B9EGH8|B9EGH9|Q9BUB0|Q9H0G4|Q9H7W2|Q9P1V5|Q9UPZ4	Missense_Mutation	SNP	ENST00000298832.9	37	c.1650G>T	CCDS32124.1	.	.	.	.	.	.	.	.	.	.	G	14.38	2.518782	0.44763	.	.	ENSG00000119685	ENST00000418433;ENST00000557636;ENST00000298832;ENST00000393826;ENST00000556893;ENST00000554510	T;T;T;T	0.32753	3.61;3.76;1.6;1.44	5.29	4.4	0.53042	.	1.085760	0.06855	N	0.798069	T	0.39358	0.1075	N	0.19112	0.55	0.27829	N	0.941539	B;B;D	0.69078	0.011;0.096;0.997	B;B;D	0.72625	0.016;0.038;0.978	T	0.29274	-1.0017	10	0.13470	T	0.59	.	11.6878	0.51497	0.0831:0.0:0.9169:0.0	.	564;101;550	G3V2J9;Q6EMB2-2;Q6EMB2	.;.;TTLL5_HUMAN	D	237;564;550;101;101;59	ENSP00000450713:E564D;ENSP00000298832:E550D;ENSP00000452524:E101D;ENSP00000451946:E59D	ENSP00000298832:E550D	E	+	3	2	TTLL5	75300810	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	0.968000	0.29357	1.224000	0.43551	0.579000	0.79373	GAG		0.502	TTLL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000414453.1	NM_015072		35	26	1	0	4.11147e-13	1	4.65765e-13	35	26				
MZF1	7593	broad.mit.edu	37	19	59073882	59073882	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:59073882G>A	ENST00000215057.2	-	6	2322	c.1762C>T	c.(1762-1764)Ctc>Ttc	p.L588F	AC016629.8_ENST00000600726.1_RNA|MZF1_ENST00000594234.1_3'UTR|AC016629.8_ENST00000600534.1_RNA|AC016629.8_ENST00000593642.1_RNA|MZF1_ENST00000599369.1_Missense_Mutation_p.L588F	NM_001267033.1|NM_198055.1	NP_001253962.1|NP_932172.1	P28698	MZF1_HUMAN	myeloid zinc finger 1	588					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)		TGTACGCGGAGATGCTGCGTG	0.682																																						ENST00000215057.2																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	11						c.(1762-1764)Ctc>Ttc		myeloid zinc finger 1							23.0	20.0	21.0					19																	59073882		2202	4299	6501	SO:0001583	missense	7593				viral reproduction	nucleus	protein homodimerization activity|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr19:59073882G>A	M58297	CCDS12988.1, CCDS59427.1	19q13.43	2014-08-22	2006-06-15	2006-06-15	ENSG00000099326	ENSG00000099326		"""-"", ""Zinc fingers, C2H2-type"""	13108	protein-coding gene	gene with protein product		194550	"""zinc finger protein 42 (myeloid-specific retinoic acid-responsive)"""	ZNF42		1860835	Standard	NM_198055		Approved	ZSCAN6, MZF1B, MZF-1, Zfp98	uc002qtn.3	P28698	OTTHUMG00000183550	ENST00000215057.2:c.1762C>T	19.37:g.59073882G>A	ENSP00000215057:p.Leu588Phe					AC016629.8_ENST00000600726.1_RNA|MZF1_ENST00000599369.1_Missense_Mutation_p.L588F|AC016629.8_ENST00000593642.1_RNA|MZF1_ENST00000594234.1_3'UTR|AC016629.8_ENST00000600534.1_RNA	p.L588F	NM_001267033.1|NM_198055.1	NP_001253962.1|NP_932172.1	P28698	MZF1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (67;0.0443)|all cancers(4;7.92e-14)|Epithelial(4;5.57e-11)|OV - Ovarian serous cystadenocarcinoma(4;1.13e-09)|GBM - Glioblastoma multiforme(193;0.0108)|Lung(386;0.182)	6	2322	-		all_cancers(17;4.4e-22)|all_epithelial(17;2.15e-16)|Lung NSC(17;1.24e-06)|all_lung(17;5.41e-06)|Colorectal(82;3.46e-05)|Renal(17;0.00179)|all_neural(62;0.00607)|Ovarian(87;0.0443)|Breast(46;0.0928)|Medulloblastoma(540;0.184)	588					M0QXU0|Q7Z729|Q96I71|Q9NRY0|Q9UBW2	Missense_Mutation	SNP	ENST00000215057.2	37	c.1762C>T	CCDS12988.1	.	.	.	.	.	.	.	.	.	.	G	16.80	3.223162	0.58668	.	.	ENSG00000099326	ENST00000215057	T	0.20738	2.05	3.45	-1.37	0.09056	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);Zinc finger, C2H2-type/integrase, DNA-binding (1);	0.000000	0.30519	N	0.009445	T	0.31949	0.0813	M	0.71871	2.18	0.33131	D	0.543022	D	0.59357	0.985	P	0.61592	0.891	T	0.37865	-0.9687	10	0.59425	D	0.04	-21.008	4.2364	0.10627	0.2852:0.0:0.5492:0.1655	.	588	P28698	MZF1_HUMAN	F	588	ENSP00000215057:L588F	ENSP00000215057:L588F	L	-	1	0	MZF1	63765694	0.001000	0.12720	0.995000	0.50966	0.843000	0.47879	-0.215000	0.09279	-0.147000	0.11254	0.462000	0.41574	CTC		0.682	MZF1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000467112.1	NM_198055		9	18	0	0	0	1	0	9	18				
LPAR4	2846	broad.mit.edu	37	X	78011321	78011321	+	Nonsense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chrX:78011321C>T	ENST00000435339.3	+	2	1341	c.955C>T	c.(955-957)Cag>Tag	p.Q319*		NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN	lysophosphatidic acid receptor 4	319					G-protein coupled receptor signaling pathway (GO:0007186)	integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)			breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						TGAATCCTTTCAGAAGTCCTT	0.428																																						ENST00000435339.2																			0				breast(3)|endometrium(3)|kidney(4)|large_intestine(4)|lung(16)|ovary(4)|pancreas(1)|skin(1)|upper_aerodigestive_tract(2)	38						c.(955-957)Cag>Tag		lysophosphatidic acid receptor 4							177.0	150.0	159.0					X																	78011321		2203	4299	6502	SO:0001587	stop_gained	2846					integral to plasma membrane	lipid binding|purinergic nucleotide receptor activity, G-protein coupled	g.chrX:78011321C>T	U90322	CCDS14441.1	Xq21.1	2012-08-08	2008-04-11	2008-04-11	ENSG00000147145	ENSG00000147145		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	4478	protein-coding gene	gene with protein product		300086	"""G protein-coupled receptor 23"""	GPR23			Standard	NM_005296		Approved	P2Y9, P2Y5-LIKE, P2RY9, LPA4	uc010nme.3	Q99677	OTTHUMG00000021895	ENST00000435339.3:c.955C>T	X.37:g.78011321C>T	ENSP00000408205:p.Gln319*					LPAR4_ENST00000373301.2_Nonsense_Mutation_p.Q319*	p.Q319*	NM_005296.2	NP_005287.1	Q99677	LPAR4_HUMAN			2	1360	+			319					B2RAC7|O15132|Q502U9|Q6NSP5	Nonsense_Mutation	SNP	ENST00000435339.3	37	c.955C>T	CCDS14441.1	.	.	.	.	.	.	.	.	.	.	C	38	7.137806	0.98088	.	.	ENSG00000147145	ENST00000435339;ENST00000373301	.	.	.	4.26	4.26	0.50523	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.51188	T	0.08	.	14.4699	0.67509	0.0:1.0:0.0:0.0	.	.	.	.	X	319	.	ENSP00000362398:Q319X	Q	+	1	0	LPAR4	77897977	1.000000	0.71417	1.000000	0.80357	0.846000	0.48090	3.283000	0.51701	1.961000	0.56991	0.422000	0.28245	CAG		0.428	LPAR4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057322.2	NM_005296		45	24	0	0	0	1	0	45	24				
GTF3C5	9328	broad.mit.edu	37	9	135917545	135917545	+	Silent	SNP	C	C	T	rs546891940		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr9:135917545C>T	ENST00000372097.5	+	2	548	c.225C>T	c.(223-225)tgC>tgT	p.C75C	GTF3C5_ENST00000485692.1_Intron|GTF3C5_ENST00000372095.5_Intron|GTF3C5_ENST00000342018.8_Silent_p.C75C|GTF3C5_ENST00000372108.5_Silent_p.C75C|GTF3C5_ENST00000372099.6_Silent_p.C66C	NM_012087.3	NP_036219.2	Q9Y5Q8	TF3C5_HUMAN	general transcription factor IIIC, polypeptide 5, 63kDa	75					5S class rRNA transcription from RNA polymerase III type 1 promoter (GO:0042791)|gene expression (GO:0010467)|skeletal muscle cell differentiation (GO:0035914)|transcription from RNA polymerase III promoter (GO:0006383)|transcription, DNA-templated (GO:0006351)|tRNA transcription from RNA polymerase III promoter (GO:0042797)	nucleoplasm (GO:0005654)|transcription factor TFIIIC complex (GO:0000127)	DNA binding (GO:0003677)			endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21				OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)		ACCCAGTGTGCGCCAACCGCT	0.612													C|||	1	0.000199681	0.0	0.0	5008	,	,		18121	0.0		0.001	False		,,,				2504	0.0					ENST00000372097.5																			0				endometrium(5)|kidney(1)|large_intestine(7)|lung(6)|pancreas(1)|prostate(1)	21						c.(223-225)tgC>tgT		general transcription factor IIIC, polypeptide 5, 63kDa							73.0	72.0	72.0					9																	135917545		2203	4300	6503	SO:0001819	synonymous_variant	9328					transcription factor TFIIIC complex	DNA binding|protein binding	g.chr9:135917545C>T	AF133124	CCDS6958.1, CCDS48050.1, CCDS75927.1	9q34.13	2010-03-23	2002-08-29		ENSG00000148308	ENSG00000148308		"""General transcription factors"""	4668	protein-coding gene	gene with protein product	"""transcription factor IIIC, 63 kD"""	604890	"""general transcription factor IIIC, polypeptide 5 (63kD)"""			10373544	Standard	NM_012087		Approved	TFiiiC2-63, TFIIIC63, TFIIICepsilon	uc004ccj.4	Q9Y5Q8	OTTHUMG00000020856	ENST00000372097.5:c.225C>T	9.37:g.135917545C>T						GTF3C5_ENST00000342018.8_Silent_p.C75C|GTF3C5_ENST00000485692.1_Intron|GTF3C5_ENST00000372095.5_Intron|GTF3C5_ENST00000372099.6_Silent_p.C66C|GTF3C5_ENST00000372108.5_Silent_p.C75C	p.C75C	NM_012087.3	NP_036219.2	Q9Y5Q8	TF3C5_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;4.01e-06)|Epithelial(140;4e-05)	2	548	+			75					A6NI44|A6NJB9|Q5T7U2|Q5T7U3|Q8N2U7|Q8N857|Q96GD9|Q9H4P2	Silent	SNP	ENST00000372097.5	37	c.225C>T	CCDS6958.1																																																																																				0.612	GTF3C5-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000054826.1	NM_001122823		33	79	0	0	0	1	0	33	79				
ACSL5	51703	broad.mit.edu	37	10	114136094	114136094	+	5'UTR	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr10:114136094C>T	ENST00000354273.4	+	0	138				ACSL5_ENST00000356116.1_Silent_p.L9L|ACSL5_ENST00000479936.1_Intron|ACSL5_ENST00000433418.1_5'UTR|ACSL5_ENST00000354655.4_Intron|ACSL5_ENST00000393081.1_Intron			Q9ULC5	ACSL5_HUMAN	acyl-CoA synthetase long-chain family member 5						cellular lipid metabolic process (GO:0044255)|long-chain fatty acid metabolic process (GO:0001676)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|regulation of extrinsic apoptotic signaling pathway (GO:2001236)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|mitochondrial inner membrane (GO:0005743)|mitochondrial outer membrane (GO:0005741)|mitochondrion (GO:0005739)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)			breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21		Colorectal(252;0.117)|Breast(234;0.222)		Epithelial(162;0.0343)|all cancers(201;0.137)		CACCCTGTCTCTGGAGGAACC	0.617																																						ENST00000356116.1																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(6)|prostate(1)|skin(2)|stomach(1)	21						c.(25-27)ctC>ctT		acyl-CoA synthetase long-chain family member 5							90.0	94.0	93.0					10																	114136094		2203	4300	6503	SO:0001623	5_prime_UTR_variant	51703				fatty acid metabolic process|long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|mitochondrial outer membrane	ATP binding|long-chain fatty acid-CoA ligase activity	g.chr10:114136094C>T	AB033899	CCDS7572.1, CCDS7573.1	10q25.1-q25.2	2004-06-21	2004-02-19	2004-02-20	ENSG00000197142	ENSG00000197142		"""Acyl-CoA synthetase family"""	16526	protein-coding gene	gene with protein product	"""FACL5 for fatty acid coenzyme A ligase 5"", ""long-chain acyl-CoA synthetase 5"", ""long-chain fatty acid coenzyme A ligase 5"", ""fatty-acid-Coenzyme A ligase, long-chain 5"""	605677	"""fatty-acid-Coenzyme A ligase, long-chain 5"""	FACL5		11127823	Standard	NM_016234		Approved	ACS5, ACS2	uc001kzu.3	Q9ULC5	OTTHUMG00000019060	ENST00000354273.4:c.-142C>T	10.37:g.114136094C>T						ACSL5_ENST00000354655.4_Intron|ACSL5_ENST00000433418.1_5'UTR|ACSL5_ENST00000354273.4_5'UTR|ACSL5_ENST00000479936.1_Intron|ACSL5_ENST00000393081.1_Intron	p.L9L	NM_016234.3	NP_057318.2	Q9ULC5	ACSL5_HUMAN		Epithelial(162;0.0343)|all cancers(201;0.137)	1	139	+		Colorectal(252;0.117)|Breast(234;0.222)	0					A6GV77|D3DRB3|Q6UX44|Q9UIU4	Silent	SNP	ENST00000354273.4	37	c.27C>T	CCDS7573.1																																																																																				0.617	ACSL5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050386.1	NM_016234		47	119	0	0	0	1	0	47	119				
TMEM74	157753	broad.mit.edu	37	8	109797107	109797107	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr8:109797107C>G	ENST00000297459.3	-	2	399	c.221G>C	c.(220-222)aGt>aCt	p.S74T	TMEM74_ENST00000518838.1_Intron	NM_153015.1	NP_694560.1	Q96NL1	TMM74_HUMAN	transmembrane protein 74	74					autophagy (GO:0006914)	cytoplasmic vesicle (GO:0031410)|integral component of membrane (GO:0016021)|lysosome (GO:0005764)				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	29			OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)			CTGAAGAGTACTGTTTTGCAG	0.502																																						ENST00000297459.3																			0				breast(1)|endometrium(2)|kidney(1)|large_intestine(6)|lung(12)|ovary(1)|prostate(3)|skin(2)|urinary_tract(1)	29						c.(220-222)aGt>aCt		transmembrane protein 74							127.0	129.0	129.0					8																	109797107		2203	4300	6503	SO:0001583	missense	157753				autophagy	autophagic vacuole membrane|cytoplasmic vesicle|integral to membrane|lysosomal membrane		g.chr8:109797107C>G	AK055230	CCDS6310.1	8q23.1	2009-11-06				ENSG00000164841			26409	protein-coding gene	gene with protein product		613935				12477932	Standard	NM_153015		Approved	FLJ30668, NET36	uc003ymy.1	Q96NL1		ENST00000297459.3:c.221G>C	8.37:g.109797107C>G	ENSP00000297459:p.Ser74Thr					TMEM74_ENST00000518838.1_Intron	p.S74T	NM_153015.1	NP_694560.1	Q96NL1	TMM74_HUMAN	OV - Ovarian serous cystadenocarcinoma(57;3.08e-10)		2	399	-			74						Missense_Mutation	SNP	ENST00000297459.3	37	c.221G>C	CCDS6310.1	.	.	.	.	.	.	.	.	.	.	C	0.149	-1.093619	0.01858	.	.	ENSG00000164841	ENST00000297459	.	.	.	5.9	-2.08	0.07254	.	1.137380	0.06304	N	0.701429	T	0.17408	0.0418	N	0.19112	0.55	0.09310	N	1	B	0.06786	0.001	B	0.06405	0.002	T	0.20907	-1.0261	9	0.12103	T	0.63	0.1982	1.9322	0.03329	0.1196:0.2053:0.2356:0.4395	.	74	Q96NL1	TMM74_HUMAN	T	74	.	ENSP00000297459:S74T	S	-	2	0	TMEM74	109866283	0.000000	0.05858	0.003000	0.11579	0.003000	0.03518	-0.418000	0.07080	-0.375000	0.07955	-0.150000	0.13652	AGT		0.502	TMEM74-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000380755.1	NM_153015		45	107	0	0	0	1	0	45	107				
ALDH1L1	10840	broad.mit.edu	37	3	125872376	125872376	+	Missense_Mutation	SNP	C	C	T	rs181617166	byFrequency	TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr3:125872376C>T	ENST00000393434.2	-	7	1118	c.769G>A	c.(769-771)Gag>Aag	p.E257K	ALDH1L1_ENST00000413612.1_5'UTR|ALDH1L1_ENST00000455064.2_Missense_Mutation_p.E82K|ALDH1L1_ENST00000393431.2_Missense_Mutation_p.E257K|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.E267K|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.E257K|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.E156K	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN	aldehyde dehydrogenase 1 family, member L1	257					10-formyltetrahydrofolate catabolic process (GO:0009258)|biosynthetic process (GO:0009058)|one-carbon metabolic process (GO:0006730)	extracellular vesicular exosome (GO:0070062)|mitochondrion (GO:0005739)	catalytic activity (GO:0003824)|formyltetrahydrofolate dehydrogenase activity (GO:0016155)|hydroxymethyl-, formyl- and related transferase activity (GO:0016742)|methyltransferase activity (GO:0008168)|oxidoreductase activity, acting on the aldehyde or oxo group of donors, NAD or NADP as acceptor (GO:0016620)			NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52				GBM - Glioblastoma multiforme(114;0.0462)	Tetrahydrofolic acid(DB00116)	GCGTCTCCCTCGGGCACCAGG	0.537													C|||	3	0.000599042	0.0	0.0	5008	,	,		20658	0.002		0.001	False		,,,				2504	0.0					ENST00000393434.2																			0				NS(1)|breast(2)|central_nervous_system(3)|endometrium(2)|kidney(5)|large_intestine(10)|lung(22)|ovary(3)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	52						c.(769-771)Gag>Aag		aldehyde dehydrogenase 1 family, member L1	Tetrahydrofolic acid(DB00116)	C	LYS/GLU	0,4406		0,0,2203	99.0	97.0	98.0		769	2.4	0.7	3		98	1,8599	1.2+/-3.3	0,1,4299	yes	missense	ALDH1L1	NM_012190.2	56	0,1,6502	TT,TC,CC		0.0116,0.0,0.0077	benign	257/903	125872376	1,13005	2203	4300	6503	SO:0001583	missense	10840				10-formyltetrahydrofolate catabolic process|biosynthetic process		acyl carrier activity|cofactor binding|formyltetrahydrofolate dehydrogenase activity|hydroxymethyl-, formyl- and related transferase activity|methyltransferase activity	g.chr3:125872376C>T	AF052732	CCDS3034.1, CCDS58850.1, CCDS58851.1	3q21.2	2010-07-19		2005-01-27	ENSG00000144908	ENSG00000144908	1.5.1.6	"""Aldehyde dehydrogenases"""	3978	protein-coding gene	gene with protein product	"""cytosolic 10-formyltetrahydrofolate dehydrogenase"""	600249	"""formyltetrahydrofolate dehydrogenase"""	FTHFD			Standard	NM_012190		Approved	10-fTHF	uc031sbp.1	O75891	OTTHUMG00000125551	ENST00000393434.2:c.769G>A	3.37:g.125872376C>T	ENSP00000377083:p.Glu257Lys					ALDH1L1_ENST00000413612.1_5'UTR|ALDH1L1_ENST00000472186.1_Missense_Mutation_p.E257K|ALDH1L1_ENST00000273450.3_Missense_Mutation_p.E267K|ALDH1L1_ENST00000452905.2_Missense_Mutation_p.E156K|ALDH1L1_ENST00000455064.2_Missense_Mutation_p.E82K|ALDH1L1_ENST00000393431.2_Missense_Mutation_p.E257K	p.E257K	NM_012190.3	NP_036322.2	O75891	AL1L1_HUMAN		GBM - Glioblastoma multiforme(114;0.0462)	7	1118	-			257					B4DG36|E9PBX3|Q68CS1	Missense_Mutation	SNP	ENST00000393434.2	37	c.769G>A	CCDS3034.1	3	0.0013736263736263737	0	0.0	0	0.0	2	0.0034965034965034965	1	0.0013192612137203166	C	6.775	0.512001	0.12944	0.0	1.16E-4	ENSG00000144908	ENST00000273450;ENST00000472186;ENST00000452905;ENST00000393434;ENST00000393431;ENST00000455064	T;T;T;T;T;T	0.43294	0.95;0.95;0.95;0.95;0.95;0.98	4.25	2.37	0.29283	Formyl transferase, C-terminal-like (1);Formyl transferase, C-terminal (2);	0.633028	0.15907	N	0.238804	T	0.24851	0.0603	L	0.27053	0.805	0.09310	N	1	B;B;B;B;B	0.27264	0.173;0.083;0.061;0.149;0.025	B;B;B;B;B	0.21151	0.029;0.015;0.009;0.033;0.006	T	0.15065	-1.0450	10	0.23891	T	0.37	.	6.9175	0.24367	0.0:0.7198:0.1785:0.1018	.	82;156;309;162;257	B4DGC8;E9PBX3;Q59G10;Q9UFA9;O75891	.;.;.;.;AL1L1_HUMAN	K	267;257;156;257;257;82	ENSP00000273450:E267K;ENSP00000420293:E257K;ENSP00000395881:E156K;ENSP00000377083:E257K;ENSP00000377081:E257K;ENSP00000414126:E82K	ENSP00000273450:E267K	E	-	1	0	ALDH1L1	127355066	0.002000	0.14202	0.716000	0.30569	0.199000	0.23934	0.083000	0.14871	0.393000	0.25203	0.467000	0.42956	GAG		0.537	ALDH1L1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354391.1	NM_012190		29	67	0	0	0	1	0	29	67				
CACNA1E	777	broad.mit.edu	37	1	181764067	181764067	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:181764067C>T	ENST00000367573.2	+	46	6095	c.6095C>T	c.(6094-6096)tCg>tTg	p.S2032L	CACNA1E_ENST00000367567.4_Missense_Mutation_p.S1596L|CACNA1E_ENST00000360108.3_Missense_Mutation_p.S2013L|CACNA1E_ENST00000526775.1_Missense_Mutation_p.S1970L|CACNA1E_ENST00000357570.5_Missense_Mutation_p.S1983L|CACNA1E_ENST00000358338.5_Missense_Mutation_p.S1921L|CACNA1E_ENST00000367570.1_Missense_Mutation_p.S1989L	NM_001205293.1	NP_001192222.1	Q15878	CAC1E_HUMAN	calcium channel, voltage-dependent, R type, alpha 1E subunit	2032					calcium ion import (GO:0070509)|energy reserve metabolic process (GO:0006112)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transport (GO:0006810)	plasma membrane (GO:0005886)|voltage-gated calcium channel complex (GO:0005891)	calcium ion binding (GO:0005509)|high voltage-gated calcium channel activity (GO:0008331)|voltage-gated calcium channel activity (GO:0005245)	p.S1989L(1)		NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						TCAAATTCCTCGTGGTTGGAG	0.527																																						ENST00000526775.1																			1	Substitution - Missense(1)	p.S1989L(1)	large_intestine(1)	NS(2)|breast(9)|central_nervous_system(3)|cervix(1)|endometrium(22)|haematopoietic_and_lymphoid_tissue(6)|kidney(4)|large_intestine(34)|lung(99)|ovary(6)|pancreas(1)|prostate(9)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	204						c.(5908-5910)tCg>tTg		calcium channel, voltage-dependent, R type, alpha 1E subunit							78.0	76.0	77.0					1																	181764067		1912	4131	6043	SO:0001583	missense	777				energy reserve metabolic process|membrane depolarization|synaptic transmission	voltage-gated calcium channel complex	voltage-gated calcium channel activity	g.chr1:181764067C>T	AK096563	CCDS53443.1, CCDS55664.1, CCDS55665.1	1q25.3	2013-01-10	2007-02-16		ENSG00000198216	ENSG00000198216		"""Calcium channel subunits"", ""Voltage-gated ion channels / Calcium channels"", ""EF-hand domain containing"""	1392	protein-coding gene	gene with protein product		601013		CACNL1A6		8388125, 16382099	Standard	NM_001205293		Approved	Cav2.3, BII, CACH6	uc009wxt.3	Q15878	OTTHUMG00000037301	ENST00000367573.2:c.6095C>T	1.37:g.181764067C>T	ENSP00000356545:p.Ser2032Leu					CACNA1E_ENST00000358338.5_Missense_Mutation_p.S1921L|CACNA1E_ENST00000357570.5_Missense_Mutation_p.S1983L|CACNA1E_ENST00000367573.2_Missense_Mutation_p.S2032L|CACNA1E_ENST00000367570.1_Missense_Mutation_p.S1989L|CACNA1E_ENST00000360108.3_Missense_Mutation_p.S2013L|CACNA1E_ENST00000367567.4_Missense_Mutation_p.S1596L	p.S1970L	NM_001205294.1	NP_001192223.1	Q15878	CAC1E_HUMAN			44	6074	+			2032					B1AM12|B1AM13|B1AM14|Q14580|Q14581	Missense_Mutation	SNP	ENST00000367573.2	37	c.5909C>T	CCDS55664.1	.	.	.	.	.	.	.	.	.	.	C	14.06	2.422489	0.43020	.	.	ENSG00000198216	ENST00000367570;ENST00000526775;ENST00000357570;ENST00000358338;ENST00000367567;ENST00000360108;ENST00000367573	D;D;D;D;D;D;D	0.95788	-3.75;-3.75;-3.75;-3.75;-3.81;-3.75;-3.75	5.91	5.91	0.95273	.	0.752924	0.13193	N	0.406526	D	0.90721	0.7088	N	0.14661	0.345	0.48511	D	0.999663	B;B	0.23128	0.08;0.022	B;B	0.17979	0.02;0.005	D	0.84987	0.0892	10	0.12766	T	0.61	.	19.8936	0.96942	0.0:1.0:0.0:0.0	.	1970;1989	Q15878-2;Q15878-3	.;.	L	1989;1970;1983;1921;1596;2013;2032	ENSP00000356542:S1989L;ENSP00000434814:S1970L;ENSP00000350183:S1983L;ENSP00000351101:S1921L;ENSP00000356539:S1596L;ENSP00000353222:S2013L;ENSP00000356545:S2032L	ENSP00000350183:S1983L	S	+	2	0	CACNA1E	180030690	1.000000	0.71417	0.968000	0.41197	0.969000	0.65631	5.073000	0.64395	2.793000	0.96121	0.655000	0.94253	TCG		0.527	CACNA1E-003	KNOWN	non_canonical_U12|basic|CCDS	protein_coding	protein_coding	OTTHUMT00000090793.2	NM_000721		16	42	0	0	0	1	0	16	42				
KCNA5	3741	broad.mit.edu	37	12	5153527	5153527	+	Missense_Mutation	SNP	G	G	C	rs144879674	byFrequency	TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr12:5153527G>C	ENST00000252321.3	+	1	443	c.214G>C	c.(214-216)Gac>Cac	p.D72H		NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN	potassium voltage-gated channel, shaker-related subfamily, member 5	72	2 X 11 AA tandem repeat of D-[SP]-G-V-R- P-L-P-P-L-P.				atrial cardiac muscle cell action potential (GO:0086014)|membrane hyperpolarization (GO:0060081)|negative regulation of cytosolic calcium ion concentration (GO:0051481)|negative regulation of potassium ion transport (GO:0043267)|positive regulation of G1/S transition of mitotic cell cycle (GO:1900087)|positive regulation of myoblast proliferation (GO:2000288)|potassium ion export (GO:0071435)|potassium ion homeostasis (GO:0055075)|potassium ion transport (GO:0006813)|protein homooligomerization (GO:0051260)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of insulin secretion (GO:0050796)|regulation of membrane potential (GO:0042391)|regulation of potassium ion transport (GO:0043266)|regulation of vasoconstriction (GO:0019229)|response to hypoxia (GO:0001666)|synaptic transmission (GO:0007268)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|intercalated disc (GO:0014704)|intracellular canaliculus (GO:0046691)|membrane raft (GO:0045121)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|voltage-gated potassium channel complex (GO:0008076)|Z disc (GO:0030018)	alpha-actinin binding (GO:0051393)|delayed rectifier potassium channel activity (GO:0005251)|outward rectifier potassium channel activity (GO:0015271)|potassium channel inhibitor activity (GO:0019870)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|voltage-gated potassium channel activity involved in atrial cardiac muscle cell action potential repolarization (GO:0086089)			NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52					Dalfampridine(DB06637)	TCCGCTGCCGGACCCGGGAGT	0.751																																						ENST00000252321.3																			0				NS(1)|breast(3)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(8)|liver(1)|lung(21)|ovary(5)|prostate(2)|upper_aerodigestive_tract(2)	52						c.(214-216)Gac>Cac		potassium voltage-gated channel, shaker-related subfamily, member 5																																				SO:0001583	missense	3741					Golgi apparatus|voltage-gated potassium channel complex	delayed rectifier potassium channel activity	g.chr12:5153527G>C	M83254	CCDS8536.1	12p13	2012-07-05				ENSG00000130037		"""Potassium channels"", ""Voltage-gated ion channels / Potassium channels"""	6224	protein-coding gene	gene with protein product		176267				16382104	Standard	NM_002234		Approved	Kv1.5, HK2, HPCN1	uc001qni.4	P22460		ENST00000252321.3:c.214G>C	12.37:g.5153527G>C	ENSP00000252321:p.Asp72His						p.D72H	NM_002234.3	NP_002225.2	P22460	KCNA5_HUMAN			1	443	+			72			2 X 11 AA tandem repeat of D-[SP]-G-V-R- P-L-P-P-L-P.		Q4KKT8|Q4VAJ1|Q4VAJ2|Q9UDA4	Missense_Mutation	SNP	ENST00000252321.3	37	c.214G>C	CCDS8536.1	.	.	.	.	.	.	.	.	.	.	-	12.19	1.862436	0.32884	.	.	ENSG00000130037	ENST00000252321	D	0.97430	-4.38	.	.	.	.	7739.210000	0.00166	N	0.000000	D	0.90728	0.7090	N	0.08118	0	0.09310	N	1	B	0.34015	0.435	B	0.29440	0.102	D	0.87304	0.2307	8	0.45353	T	0.12	.	.	.	.	.	72	P22460	KCNA5_HUMAN	H	72	ENSP00000252321:D72H	ENSP00000252321:D72H	D	+	1	0	KCNA5	5023788	0.044000	0.20184	0.471000	0.27229	0.777000	0.43975	0.000000	0.12993	0.000000	0.14550	0.000000	0.15137	GAC		0.751	KCNA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398925.2	NM_002234		4	4	0	0	0	1	0	4	4				
KIRREL3	84623	broad.mit.edu	37	11	126432787	126432787	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:126432787C>A	ENST00000525144.2	-	2	325	c.76G>T	c.(76-78)Gga>Tga	p.G26*	KIRREL3_ENST00000529097.2_Nonsense_Mutation_p.G26*|KIRREL3-AS1_ENST00000548204.1_RNA|KIRREL3_ENST00000525704.2_Nonsense_Mutation_p.G26*|KIRREL3_ENST00000533026.2_5'UTR	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN	kin of IRRE like 3 (Drosophila)	26					hemopoiesis (GO:0030097)	extracellular region (GO:0005576)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)		AGACAGCATCCTCTCTTCTGG	0.567																																						ENST00000525144.2																			0				central_nervous_system(1)|endometrium(5)|large_intestine(11)|lung(8)|ovary(3)|prostate(1)	29						c.(76-78)Gga>Tga		kin of IRRE like 3 (Drosophila)							105.0	100.0	102.0					11																	126432787		1936	4130	6066	SO:0001587	stop_gained	84623				hemopoiesis	extracellular region|integral to membrane|plasma membrane	protein binding	g.chr11:126432787C>A	AB058770	CCDS53723.1, CCDS55796.1, CCDS73413.1	11q24	2013-01-29			ENSG00000149571	ENSG00000149571		"""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	23204	protein-coding gene	gene with protein product		607761				12424224, 11347906	Standard	NM_032531		Approved	NEPH2, KIAA1867, KIRRE	uc001qea.3	Q8IZU9	OTTHUMG00000165831	ENST00000525144.2:c.76G>T	11.37:g.126432787C>A	ENSP00000435466:p.Gly26*					KIRREL3-AS1_ENST00000548204.1_RNA|KIRREL3_ENST00000529097.2_Nonsense_Mutation_p.G26*|KIRREL3_ENST00000533026.2_5'UTR|KIRREL3_ENST00000525704.2_Nonsense_Mutation_p.G26*	p.G26*	NM_032531.3	NP_115920.1	Q8IZU9	KIRR3_HUMAN		BRCA - Breast invasive adenocarcinoma(274;6.03e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.12)	2	325	-	all_hematologic(175;0.145)	Lung NSC(97;0.0484)|all_lung(97;0.0522)|Medulloblastoma(222;0.0523)|Breast(109;0.0949)|all_neural(223;0.224)	26					Q3MIJ7|Q6UWJ9|Q6UWL5|Q96JG0	Nonsense_Mutation	SNP	ENST00000525144.2	37	c.76G>T	CCDS53723.1	.	.	.	.	.	.	.	.	.	.	C	36	5.736652	0.96865	.	.	ENSG00000149571	ENST00000525144;ENST00000529097;ENST00000525704	.	.	.	5.47	5.47	0.80525	.	0.000000	0.56097	D	0.000034	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	17.5197	0.87783	0.0:1.0:0.0:0.0	.	.	.	.	X	26	.	ENSP00000435466:G26X	G	-	1	0	KIRREL3	125937997	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	4.770000	0.62309	2.569000	0.86673	0.650000	0.86243	GGA		0.567	KIRREL3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000386479.2	NM_032531		20	61	1	0	1.40151e-16	1	1.64852e-16	20	61				
AK9	221264	broad.mit.edu	37	6	109867141	109867141	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr6:109867141C>T	ENST00000424296.2	-	26	3230	c.3154G>A	c.(3154-3156)Gcc>Acc	p.A1052T	AK9_ENST00000355283.1_Missense_Mutation_p.A131T|AK9_ENST00000341338.6_Missense_Mutation_p.A131T	NM_001145128.2	NP_001138600.2	Q5TCS8	KAD9_HUMAN	adenylate kinase 9	1052	Adenylate kinase 2.|NMPbind 2. {ECO:0000250}.				ADP phosphorylation (GO:0006757)|AMP phosphorylation (GO:0006756)|CDP phosphorylation (GO:0061508)|CMP phosphorylation (GO:0061566)|dADP phosphorylation (GO:0006174)|dAMP phosphorylation (GO:0061565)|dCDP phosphorylation (GO:0061570)|dCMP phosphorylation (GO:0061567)|dGDP phosphorylation (GO:0006186)|GDP phosphorylation (GO:0061568)|TDP phosphorylation (GO:0061571)|UDP phosphorylation (GO:0061569)	cytoplasm (GO:0005737)|nuclear membrane (GO:0031965)|nucleolus (GO:0005730)|nucleus (GO:0005634)	ATP binding (GO:0005524)|nucleoside diphosphate kinase activity (GO:0004550)|nucleoside phosphate kinase activity (GO:0050145)										TCTTGTTTGGCAGCTTGCTCG	0.353																																						ENST00000424296.2																			0											c.(3154-3156)Gcc>Acc		adenylate kinase 9							112.0	108.0	109.0					6																	109867141		2203	4300	6503	SO:0001583	missense	221264							g.chr6:109867141C>T	AK131244, BC146443, BC087860	CCDS5077.1, CCDS55048.1	6q21	2013-04-29	2013-04-29	2013-04-29			2.7.4.3		33814	protein-coding gene	gene with protein product		615358	"""chromosome 6 open reading frame 224"", ""adenylate kinase domain containing 2"", ""chromosome 6 open reading frame 199"", ""adenylate kinase domain containing 1"""	C6orf224, AKD2, C6orf199, AKD1		23416111	Standard	NM_145025		Approved	FLJ42177, FLJ25791, dJ70A9.1, MGC26954		Q5TCS8		ENST00000424296.2:c.3154G>A	6.37:g.109867141C>T	ENSP00000410186:p.Ala1052Thr					AK9_ENST00000355283.1_Missense_Mutation_p.A131T|AK9_ENST00000341338.6_Missense_Mutation_p.A131T	p.A1052T	NM_001145128.2	NP_001138600.2					26	3230	-								A6NL75|B2RDJ0|B6ZDM7|Q3MIS4|Q5I0W8|Q6ZNF1|Q6ZVR7|Q8N7C6|Q8WW00|Q96NF4	Missense_Mutation	SNP	ENST00000424296.2	37	c.3154G>A	CCDS55048.1	.	.	.	.	.	.	.	.	.	.	C	4.394	0.072805	0.08436	.	.	ENSG00000155085	ENST00000424296;ENST00000355283;ENST00000341338	T;T;T	0.64618	-0.11;0.94;0.94	5.47	0.41	0.16387	ATPase, AAA+ type, core (1);	1.190010	0.05821	N	0.615767	T	0.28267	0.0698	L	0.50333	1.59	0.09310	N	1	B;B	0.17852	0.019;0.024	B;B	0.15052	0.012;0.01	T	0.09574	-1.0668	9	.	.	.	.	2.3217	0.04212	0.1165:0.4204:0.114:0.3491	.	131;1052	Q5TCS8-5;Q5TCS8	.;AKD1_HUMAN	T	1052;131;131	ENSP00000410186:A1052T;ENSP00000347431:A131T;ENSP00000344637:A131T	.	A	-	1	0	AKD1	109973834	0.000000	0.05858	0.000000	0.03702	0.267000	0.26476	-0.450000	0.06803	-0.147000	0.11254	0.557000	0.71058	GCC		0.353	AK9-202	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001145128		22	47	0	0	0	1	0	22	47				
CP	1356	broad.mit.edu	37	3	148895683	148895683	+	Missense_Mutation	SNP	C	C	A	rs386134133		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr3:148895683C>A	ENST00000264613.6	-	17	3224	c.2962G>T	c.(2962-2964)Ggc>Tgc	p.G988C		NM_000096.3	NP_000087	P00450	CERU_HUMAN	ceruloplasmin (ferroxidase)	988	F5/8 type A 3.|Plastocyanin-like 6.				cellular iron ion homeostasis (GO:0006879)|copper ion transport (GO:0006825)|transmembrane transport (GO:0055085)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|lysosomal membrane (GO:0005765)	chaperone binding (GO:0051087)|copper ion binding (GO:0005507)|ferroxidase activity (GO:0004322)			breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		Drotrecogin alfa(DB00055)	ATTTCATTGCCCATTCCCATC	0.418																																						ENST00000264613.6																			0				breast(6)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(9)|lung(14)|ovary(1)|prostate(1)|soft_tissue(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	44	GRCh37	CM066552	CP	M		c.(2962-2964)Ggc>Tgc		ceruloplasmin (ferroxidase)	Drotrecogin alfa(DB00055)						262.0	225.0	237.0					3																	148895683		2203	4300	6503	SO:0001583	missense	1356				cellular iron ion homeostasis|copper ion transport|transmembrane transport	extracellular space	chaperone binding|ferroxidase activity	g.chr3:148895683C>A	M13536	CCDS3141.1	3q23-q25	2010-07-01			ENSG00000047457	ENSG00000047457	1.16.3.1		2295	protein-coding gene	gene with protein product		117700					Standard	NM_000096		Approved		uc003ewy.4	P00450	OTTHUMG00000159563	ENST00000264613.6:c.2962G>T	3.37:g.148895683C>A	ENSP00000264613:p.Gly988Cys						p.G988C	NM_000096.3	NP_000087.1	P00450	CERU_HUMAN	LUSC - Lung squamous cell carcinoma(72;0.0473)|Lung(72;0.0607)		17	3224	-		Prostate(884;0.00217)|Hepatocellular(537;0.00826)|Myeloproliferative disorder(1037;0.0122)|all_neural(597;0.0189)|Melanoma(1037;0.152)	988			F5/8 type A 3.|Plastocyanin-like 6.		Q14063|Q2PP18|Q9UKS4	Missense_Mutation	SNP	ENST00000264613.6	37	c.2962G>T	CCDS3141.1	.	.	.	.	.	.	.	.	.	.	C	29.9	5.049055	0.93740	.	.	ENSG00000047457	ENST00000479771;ENST00000264613;ENST00000494544	D;D;D	0.99845	-7.12;-7.12;-7.12	5.78	5.78	0.91487	Cupredoxin (2);Multicopper oxidase, type 2 (1);	0.000000	0.85682	D	0.000000	D	0.99898	0.9951	H	0.96080	3.765	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	1.0;1.0;1.0;1.0	D	0.96581	0.9430	10	0.87932	D	0	-18.2289	20.0172	0.97481	0.0:1.0:0.0:0.0	.	988;988;988;701	A8K5A4;P00450;Q1L857;B3KTA8	.;CERU_HUMAN;.;.	C	123;988;771	ENSP00000420367:G123C;ENSP00000264613:G988C;ENSP00000420545:G771C	ENSP00000264613:G988C	G	-	1	0	CP	150378373	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	7.800000	0.85949	2.731000	0.93534	0.557000	0.71058	GGC		0.418	CP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317498.1	NM_000096		33	65	1	0	1.26612e-14	1	1.4558e-14	33	65				
FAM71A	149647	broad.mit.edu	37	1	212798649	212798649	+	Missense_Mutation	SNP	G	G	A	rs202026670		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:212798649G>A	ENST00000294829.3	+	1	861	c.430G>A	c.(430-432)Gcc>Acc	p.A144T	RP11-338C15.5_ENST00000427949.1_RNA	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN	family with sequence similarity 71, member A	144						nucleus (GO:0005634)				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36				OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)		CCTGAAGTTCGCCACTGGCAG	0.507													G|||	1	0.000199681	0.0008	0.0	5008	,	,		23084	0.0		0.0	False		,,,				2504	0.0					ENST00000294829.3																			0				breast(2)|central_nervous_system(1)|cervix(1)|endometrium(3)|large_intestine(7)|liver(1)|lung(12)|ovary(1)|prostate(3)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	36						c.(430-432)Gcc>Acc		family with sequence similarity 71, member A							103.0	108.0	106.0					1																	212798649		2203	4300	6503	SO:0001583	missense	149647							g.chr1:212798649G>A		CCDS1507.1	1q32.3	2008-02-05			ENSG00000162771	ENSG00000162771			26541	protein-coding gene	gene with protein product						12477932	Standard	NM_153606		Approved	FLJ32796	uc010pth.1	Q8IYT1	OTTHUMG00000041084	ENST00000294829.3:c.430G>A	1.37:g.212798649G>A	ENSP00000294829:p.Ala144Thr					RP11-338C15.5_ENST00000427949.1_RNA	p.A144T	NM_153606.3	NP_705834.2	Q8IYT1	FA71A_HUMAN		OV - Ovarian serous cystadenocarcinoma(81;0.00631)|all cancers(67;0.00981)|GBM - Glioblastoma multiforme(131;0.0715)|Epithelial(68;0.094)	1	861	+			144					Q5VTZ1	Missense_Mutation	SNP	ENST00000294829.3	37	c.430G>A	CCDS1507.1	1	4.578754578754579E-4	1	0.0020325203252032522	0	0.0	0	0.0	0	0.0	G	19.58	3.854394	0.71719	.	.	ENSG00000162771	ENST00000294829	T	0.18810	2.19	4.53	4.53	0.55603	.	0.122604	0.36374	N	0.002634	T	0.48409	0.1498	M	0.82923	2.615	0.37566	D	0.919265	D	0.89917	1.0	D	0.97110	1.0	T	0.58853	-0.7563	10	0.72032	D	0.01	-22.2409	13.0067	0.58710	0.0:0.0:1.0:0.0	.	144	Q8IYT1	FA71A_HUMAN	T	144	ENSP00000294829:A144T	ENSP00000294829:A144T	A	+	1	0	FAM71A	210865272	0.462000	0.25791	0.955000	0.39395	0.581000	0.36288	2.296000	0.43584	2.521000	0.84997	0.557000	0.71058	GCC		0.507	FAM71A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098529.1	NM_153606		39	111	0	0	0	1	0	39	111				
ITIH6	347365	broad.mit.edu	37	X	54784137	54784137	+	Silent	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chrX:54784137C>T	ENST00000218436.6	-	8	2399	c.2370G>A	c.(2368-2370)tcG>tcA	p.S790S		NM_198510.2	NP_940912.1	Q6UXX5	ITIH6_HUMAN	inter-alpha-trypsin inhibitor heavy chain family, member 6	790	Pro-rich.				hyaluronan metabolic process (GO:0030212)	extracellular region (GO:0005576)	serine-type endopeptidase inhibitor activity (GO:0004867)										GTTGGGGGTGCGATGGAGCAC	0.547																																						ENST00000218436.6																			0											c.(2368-2370)tcG>tcA		inter-alpha-trypsin inhibitor heavy chain family, member 6							115.0	98.0	104.0					X																	54784137		2203	4300	6503	SO:0001819	synonymous_variant	347365				hyaluronan metabolic process	extracellular region	serine-type endopeptidase inhibitor activity	g.chrX:54784137C>T	AY358170	CCDS14361.1	Xp11.22-p11.21	2011-10-26	2011-10-26	2011-10-26	ENSG00000102313	ENSG00000102313			28907	protein-coding gene	gene with protein product			"""inter-alpha (globulin) inhibitor H5-like"""	ITIH5L		12975309	Standard	NM_198510		Approved	UNQ6369	uc004dtj.2	Q6UXX5	OTTHUMG00000021634	ENST00000218436.6:c.2370G>A	X.37:g.54784137C>T							p.S790S	NM_198510.2	NP_940912.1	Q6UXX5	ITH5L_HUMAN			8	2399	-			790			Pro-rich.		A6NN03	Silent	SNP	ENST00000218436.6	37	c.2370G>A	CCDS14361.1																																																																																				0.547	ITIH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056814.2	NM_198510		46	22	0	0	0	1	0	46	22				
OCEL1	79629	broad.mit.edu	37	19	17339665	17339665	+	Silent	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:17339665G>A	ENST00000215061.4	+	6	770	c.726G>A	c.(724-726)ctG>ctA	p.L242L	OCEL1_ENST00000601529.1_3'UTR|OCEL1_ENST00000597836.1_Silent_p.L186L	NM_024578.1	NP_078854.1	Q9H607	OCEL1_HUMAN	occludin/ELL domain containing 1	242										central_nervous_system(2)|endometrium(2)|kidney(1)|lung(2)	7						AGGGTAAACTGAGGCATCTCA	0.572																																						ENST00000215061.4																			0				central_nervous_system(2)|endometrium(2)|kidney(1)|lung(2)	7						c.(724-726)ctG>ctA		occludin/ELL domain containing 1							92.0	83.0	86.0					19																	17339665		2203	4300	6503	SO:0001819	synonymous_variant	79629							g.chr19:17339665G>A	BC029361	CCDS12351.1	19p13.11	2008-02-05				ENSG00000099330			26221	protein-coding gene	gene with protein product						12477932	Standard	NM_024578		Approved	FLJ22709	uc002nfp.3	Q9H607		ENST00000215061.4:c.726G>A	19.37:g.17339665G>A						OCEL1_ENST00000601529.1_3'UTR|OCEL1_ENST00000597836.1_Silent_p.L186L	p.L242L	NM_024578.1	NP_078854.1	Q9H607	OCEL1_HUMAN			6	770	+			242						Silent	SNP	ENST00000215061.4	37	c.726G>A	CCDS12351.1																																																																																				0.572	OCEL1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463307.1	NM_024578		30	55	0	0	0	1	0	30	55				
SVIP	258010	broad.mit.edu	37	11	22848833	22848833	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:22848833C>T	ENST00000354193.4	-	3	255	c.139G>A	c.(139-141)Gtg>Atg	p.V47M	RP11-17A1.3_ENST00000528701.1_RNA|RP11-17A1.3_ENST00000499625.1_RNA|RP11-17A1.3_ENST00000525963.1_RNA|SVIP_ENST00000533774.1_5'UTR	NM_148893.1	NP_683691.1	Q8NHG7	SVIP_HUMAN	small VCP/p97-interacting protein	47					negative regulation of ER-associated ubiquitin-dependent protein catabolic process (GO:1903070)|negative regulation of protein complex assembly (GO:0031333)|positive regulation of autophagy (GO:0010508)|positive regulation of protein lipidation (GO:1903061)	endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|plasma membrane (GO:0005886)	protein self-association (GO:0043621)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	3						TTTTCTTGCACAGATTGAACA	0.348																																						ENST00000354193.4																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)	3						c.(139-141)Gtg>Atg		small VCP/p97-interacting protein							100.0	102.0	102.0					11																	22848833		1786	4059	5845	SO:0001583	missense	258010					Golgi membrane|plasma membrane|smooth endoplasmic reticulum membrane		g.chr11:22848833C>T	AF527534	CCDS41627.1	11p14.2	2009-03-10				ENSG00000198168			25238	protein-coding gene	gene with protein product						18793143, 17872946, 12529442	Standard	NM_148893		Approved	DKFZp313A2432	uc001mqp.4	Q8NHG7		ENST00000354193.4:c.139G>A	11.37:g.22848833C>T	ENSP00000346130:p.Val47Met					SVIP_ENST00000533774.1_5'UTR	p.V47M	NM_148893.1	NP_683691.1	Q8NHG7	SVIP_HUMAN			3	255	-			47						Missense_Mutation	SNP	ENST00000354193.4	37	c.139G>A	CCDS41627.1	.	.	.	.	.	.	.	.	.	.	C	16.51	3.144223	0.57044	.	.	ENSG00000198168	ENST00000354193	.	.	.	4.85	4.85	0.62838	.	0.000000	0.45606	D	0.000346	T	0.71230	0.3315	.	.	.	0.31173	N	0.702938	D	0.76494	0.999	D	0.85130	0.997	T	0.75113	-0.3432	8	0.72032	D	0.01	-10.002	13.8522	0.63504	0.0:1.0:0.0:0.0	.	47	Q8NHG7	SVIP_HUMAN	M	47	.	ENSP00000346130:V47M	V	-	1	0	SVIP	22805409	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.785000	0.55424	2.399000	0.81585	0.655000	0.94253	GTG		0.348	SVIP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387725.2	NM_148893		32	72	0	0	0	1	0	32	72				
FASN	2194	broad.mit.edu	37	17	80043275	80043275	+	Missense_Mutation	SNP	C	C	T	rs374469081		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:80043275C>T	ENST00000306749.2	-	24	4344	c.4126G>A	c.(4126-4128)Gcg>Acg	p.A1376T	FASN_ENST00000579758.1_5'Flank	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	fatty acid synthase	1376					acetyl-CoA metabolic process (GO:0006084)|cellular lipid metabolic process (GO:0044255)|cellular response to interleukin-4 (GO:0071353)|energy reserve metabolic process (GO:0006112)|fatty acid biosynthetic process (GO:0006633)|fatty acid metabolic process (GO:0006631)|long-chain fatty-acyl-CoA biosynthetic process (GO:0035338)|osteoblast differentiation (GO:0001649)|pantothenate metabolic process (GO:0015939)|positive regulation of cellular metabolic process (GO:0031325)|small molecule metabolic process (GO:0044281)|triglyceride biosynthetic process (GO:0019432)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|glycogen granule (GO:0042587)|Golgi apparatus (GO:0005794)|membrane (GO:0016020)|mitochondrion (GO:0005739)|plasma membrane (GO:0005886)	3-hydroxyoctanoyl-[acyl-carrier-protein] dehydratase activity (GO:0047451)|3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity (GO:0004317)|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity (GO:0004316)|3-oxoacyl-[acyl-carrier-protein] synthase activity (GO:0004315)|[acyl-carrier-protein] S-acetyltransferase activity (GO:0004313)|[acyl-carrier-protein] S-malonyltransferase activity (GO:0004314)|drug binding (GO:0008144)|enoyl-[acyl-carrier-protein] reductase (NADPH, A-specific) activity (GO:0047117)|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity (GO:0004319)|fatty acid synthase activity (GO:0004312)|myristoyl-[acyl-carrier-protein] hydrolase activity (GO:0016295)|NADPH binding (GO:0070402)|oleoyl-[acyl-carrier-protein] hydrolase activity (GO:0004320)|palmitoyl-[acyl-carrier-protein] hydrolase activity (GO:0016296)|poly(A) RNA binding (GO:0044822)|zinc ion binding (GO:0008270)			central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		Cerulenin(DB01034)|Orlistat(DB01083)	CTCTCCCACGCGTCCTGTGGG	0.731																																					Colon(59;314 1043 11189 28578 32273)	ENST00000306749.2																			0				central_nervous_system(3)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(1)|lung(12)|prostate(3)|skin(2)|urinary_tract(1)	34						c.(4126-4128)Gcg>Acg		fatty acid synthase	Cerulenin(DB01034)|Orlistat(DB01083)|Pyrazinamide(DB00339)	C	THR/ALA	0,4342		0,0,2171	14.0	20.0	18.0		4126	3.5	0.8	17		18	1,8489		0,1,4244	no	missense	FASN	NM_004104.4	58	0,1,6415	TT,TC,CC		0.0118,0.0,0.0078	benign	1376/2512	80043275	1,12831	2171	4245	6416	SO:0001583	missense	2194				energy reserve metabolic process|fatty acid biosynthetic process|long-chain fatty-acyl-CoA biosynthetic process|pantothenate metabolic process|positive regulation of cellular metabolic process|triglyceride biosynthetic process	cytosol|Golgi apparatus|melanosome|plasma membrane	3-hydroxypalmitoyl-[acyl-carrier-protein] dehydratase activity|3-oxoacyl-[acyl-carrier-protein] reductase (NADPH) activity|3-oxoacyl-[acyl-carrier-protein] synthase activity|[acyl-carrier-protein] S-acetyltransferase activity|[acyl-carrier-protein] S-malonyltransferase activity|acyl carrier activity|cofactor binding|enoyl-[acyl-carrier-protein] reductase (NADPH, B-specific) activity|myristoyl-[acyl-carrier-protein] hydrolase activity|oleoyl-[acyl-carrier-protein] hydrolase activity|palmitoyl-[acyl-carrier-protein] hydrolase activity|phosphopantetheine binding|protein binding|zinc ion binding	g.chr17:80043275C>T	U26644	CCDS11801.1	17q25	2012-01-31			ENSG00000169710	ENSG00000169710	2.3.1.85	"""Short chain dehydrogenase/reductase superfamily / Atypical members"""	3594	protein-coding gene	gene with protein product	"""short chain dehydrogenase/reductase family 27X, member 1"""	600212				7835891, 7567999, 19027726	Standard	NM_004104		Approved	FAS, SDR27X1	uc002kdu.3	P49327		ENST00000306749.2:c.4126G>A	17.37:g.80043275C>T	ENSP00000304592:p.Ala1376Thr						p.A1376T	NM_004104.4	NP_004095.4	P49327	FAS_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0211)|BRCA - Breast invasive adenocarcinoma(99;0.0237)		24	4344	-	all_neural(118;0.0878)|Ovarian(332;0.227)|all_lung(278;0.246)		1376					Q13479|Q16702|Q4LE83|Q6P4U5|Q6SS02|Q969R1|Q96C68|Q96IT0	Missense_Mutation	SNP	ENST00000306749.2	37	c.4126G>A	CCDS11801.1	.	.	.	.	.	.	.	.	.	.	C	9.363	1.068610	0.20067	0.0	1.18E-4	ENSG00000169710	ENST00000306749;ENST00000545909	T	0.09255	3.0	4.49	3.48	0.39840	.	0.124896	0.51477	D	0.000082	T	0.07143	0.0181	N	0.22421	0.69	0.24833	N	0.99251	B	0.18461	0.028	B	0.12837	0.008	T	0.29822	-0.9999	10	0.33940	T	0.23	-20.0762	8.6423	0.33985	0.0:0.6013:0.3132:0.0855	.	1376	P49327	FAS_HUMAN	T	1376;341	ENSP00000304592:A1376T	ENSP00000304592:A1376T	A	-	1	0	FASN	77636564	0.981000	0.34729	0.836000	0.33094	0.080000	0.17528	2.486000	0.45259	0.929000	0.37192	0.462000	0.41574	GCG		0.731	FASN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442369.1	NM_004104		5	22	0	0	0	1	0	5	22				
CORO1B	57175	broad.mit.edu	37	11	67206256	67206256	+	Silent	SNP	G	G	A	rs367989759		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:67206256G>A	ENST00000341356.5	-	10	1340	c.1230C>T	c.(1228-1230)aaC>aaT	p.N410N	CORO1B_ENST00000393893.1_Silent_p.N410N|CORO1B_ENST00000539724.1_5'UTR|PTPRCAP_ENST00000326294.3_5'Flank	NM_020441.2	NP_065174.1	Q9BR76	COR1B_HUMAN	coronin, actin binding protein, 1B	410					actin cytoskeleton organization (GO:0030036)|actin filament branching (GO:0090135)|actin filament bundle assembly (GO:0051017)|cell migration (GO:0016477)|endothelial cell chemotaxis (GO:0035767)|negative regulation of Arp2/3 complex-mediated actin nucleation (GO:0034316)|positive regulation of lamellipodium morphogenesis (GO:2000394)|protein localization to cell leading edge (GO:1902463)|ruffle organization (GO:0031529)|wound healing (GO:0042060)	actin cytoskeleton (GO:0015629)|actin filament (GO:0005884)|cell leading edge (GO:0031252)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|lamellipodium (GO:0030027)|stress fiber (GO:0001725)	actin filament binding (GO:0051015)|Arp2/3 complex binding (GO:0071933)|identical protein binding (GO:0042802)			cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13			BRCA - Breast invasive adenocarcinoma(15;3.26e-06)			CAGACAACACGTTGCGCCGGC	0.706																																						ENST00000393893.1																			0				cervix(1)|endometrium(3)|large_intestine(1)|lung(6)|ovary(1)|prostate(1)	13						c.(1228-1230)aaC>aaT		coronin, actin binding protein, 1B		G	,	0,4330		0,0,2165	9.0	10.0	10.0		1230,1230	0.5	0.9	11		10	3,8523		0,3,4260	no	coding-synonymous,coding-synonymous	CORO1B	NM_001018070.2,NM_020441.2	,	0,3,6425	AA,AG,GG		0.0352,0.0,0.0233	,	410/490,410/490	67206256	3,12853	2165	4263	6428	SO:0001819	synonymous_variant	57175				actin cytoskeleton organization	actin cytoskeleton|cytoplasm	actin filament binding	g.chr11:67206256G>A	AK000860	CCDS8164.1	11q13.1	2013-01-10	2001-11-28		ENSG00000172725	ENSG00000172725		"""Coronins"", ""WD repeat domain containing"""	2253	protein-coding gene	gene with protein product		609849	"""coronin, actin-binding protein, 1B"""			9778037	Standard	NM_001018070		Approved	coronin-2	uc001olk.1	Q9BR76	OTTHUMG00000167775	ENST00000341356.5:c.1230C>T	11.37:g.67206256G>A						CORO1B_ENST00000341356.5_Silent_p.N410N|CORO1B_ENST00000539724.1_5'UTR	p.N410N	NM_001018070.2	NP_001018080.1	Q9BR76	COR1B_HUMAN	BRCA - Breast invasive adenocarcinoma(15;3.26e-06)		11	1333	-			410					B2RD45	Silent	SNP	ENST00000341356.5	37	c.1230C>T	CCDS8164.1																																																																																				0.706	CORO1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396220.1	NM_020441		5	10	0	0	0	1	0	5	10				
ABCA13	154664	broad.mit.edu	37	7	48626818	48626818	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:48626818T>A	ENST00000435803.1	+	57	14598	c.14574T>A	c.(14572-14574)agT>agA	p.S4858R	ABCA13_ENST00000544596.1_Missense_Mutation_p.S588R	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN	ATP-binding cassette, sub-family A (ABC1), member 13	4858	ABC transporter 2. {ECO:0000255|PROSITE- ProRule:PRU00434}.				transport (GO:0006810)	integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)			breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						CCACCTACAGTGGGGGAACCA	0.532																																						ENST00000435803.1																			0				breast(13)|central_nervous_system(8)|endometrium(25)|haematopoietic_and_lymphoid_tissue(4)|kidney(20)|large_intestine(51)|lung(100)|ovary(5)|pancreas(2)|prostate(22)|skin(10)|stomach(3)|upper_aerodigestive_tract(3)|urinary_tract(4)	270						c.(14572-14574)agT>agA		ATP-binding cassette, sub-family A (ABC1), member 13							42.0	45.0	44.0					7																	48626818		1963	4187	6150	SO:0001583	missense	154664				transport	integral to membrane	ATP binding|ATPase activity	g.chr7:48626818T>A	AY204751	CCDS47584.1	7p12.3	2012-03-14			ENSG00000179869	ENSG00000179869		"""ATP binding cassette transporters / subfamily A"""	14638	protein-coding gene	gene with protein product		607807				12697998	Standard	NM_152701		Approved	FLJ33876, FLJ33951	uc003toq.2	Q86UQ4	OTTHUMG00000155840	ENST00000435803.1:c.14574T>A	7.37:g.48626818T>A	ENSP00000411096:p.Ser4858Arg					ABCA13_ENST00000544596.1_Missense_Mutation_p.S588R	p.S4858R	NM_152701.3	NP_689914.2	Q86UQ4	ABCAD_HUMAN			57	14598	+			4858			ABC transporter 2.		K9LC76|K9LC79|K9LCX7|K9LDK8|K9LDY4|Q6ZTT7|Q86WI2|Q8N248	Missense_Mutation	SNP	ENST00000435803.1	37	c.14574T>A	CCDS47584.1	.	.	.	.	.	.	.	.	.	.	T	21.8	4.198891	0.79015	.	.	ENSG00000179869	ENST00000435803;ENST00000411975;ENST00000544596	T;T;T	0.74002	-0.8;-0.8;-0.8	5.71	0.639	0.17747	ATPase, AAA+ type, core (1);ABC transporter-like (2);	0.000000	0.64402	D	0.000010	D	0.91116	0.7203	H	0.99834	4.825	0.41847	D	0.990151	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;0.999	D	0.88956	0.3390	10	0.87932	D	0	.	8.8975	0.35474	0.0:0.3979:0.0:0.6021	.	588;2560;4858	F5H7B7;Q86UQ4-3;Q86UQ4	.;.;ABCAD_HUMAN	R	4858;631;588	ENSP00000411096:S4858R;ENSP00000391042:S631R;ENSP00000442634:S588R	ENSP00000391042:S631R	S	+	3	2	ABCA13	48597364	0.989000	0.36119	0.997000	0.53966	0.993000	0.82548	0.091000	0.15046	-0.110000	0.12022	0.528000	0.53228	AGT		0.532	ABCA13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341964.2	NM_152701		6	17	0	0	0	1	0	6	17				
FAT1	2195	broad.mit.edu	37	4	187629214	187629214	+	Missense_Mutation	SNP	T	T	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr4:187629214T>A	ENST00000441802.2	-	2	1977	c.1768A>T	c.(1768-1770)Act>Tct	p.T590S		NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN	FAT atypical cadherin 1	590	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				actin filament organization (GO:0007015)|anatomical structure morphogenesis (GO:0009653)|cell adhesion (GO:0007155)|cell migration (GO:0016477)|cell-cell signaling (GO:0007267)|establishment or maintenance of cell polarity (GO:0007163)|homophilic cell adhesion (GO:0007156)|single organismal cell-cell adhesion (GO:0016337)	cell-cell junction (GO:0005911)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lamellipodium (GO:0030027)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						GCAGAAACAGTGGTTATTTGC	0.393										HNSCC(5;0.00058)																											Colon(197;1040 2055 4143 4984 49344)	ENST00000441802.2																			0				NS(1)|breast(3)|central_nervous_system(3)|endometrium(38)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(33)|lung(88)|ovary(13)|pancreas(2)|prostate(16)|skin(2)|upper_aerodigestive_tract(11)|urinary_tract(4)	228						c.(1768-1770)Act>Tct		FAT atypical cadherin 1							74.0	68.0	70.0					4																	187629214		1871	4121	5992	SO:0001583	missense	2195				actin filament organization|anatomical structure morphogenesis|cell migration|cell-cell signaling|establishment or maintenance of cell polarity|homophilic cell adhesion	cell-cell junction|integral to plasma membrane|nucleus|perinuclear region of cytoplasm	calcium ion binding|protein binding	g.chr4:187629214T>A	X87241	CCDS47177.1	4q35.2	2013-05-31	2013-05-31	2008-10-30	ENSG00000083857	ENSG00000083857		"""Cadherins / Cadherin-related"""	3595	protein-coding gene	gene with protein product	"""cadherin-related family member 8"""	600976	"""FAT tumor suppressor (Drosophila) homolog"", ""FAT tumor suppressor homolog 1 (Drosophila)"""	FAT		8586420	Standard	XM_005262834		Approved	CDHF7, CDHR8	uc003izf.3	Q14517	OTTHUMG00000160320	ENST00000441802.2:c.1768A>T	4.37:g.187629214T>A	ENSP00000406229:p.Thr590Ser	HNSCC(5;0.00058)					p.T590S	NM_005245.3	NP_005236.2	Q14517	FAT1_HUMAN			2	1977	-			590			Cadherin 5.			Missense_Mutation	SNP	ENST00000441802.2	37	c.1768A>T	CCDS47177.1	.	.	.	.	.	.	.	.	.	.	T	18.65	3.669706	0.67814	.	.	ENSG00000083857	ENST00000441802;ENST00000260147	T	0.39229	1.09	5.4	5.4	0.78164	Cadherin (2);Cadherin-like (1);	0.000000	0.85682	D	0.000000	T	0.60715	0.2290	M	0.78456	2.415	0.80722	D	1	D	0.69078	0.997	D	0.63703	0.917	T	0.58945	-0.7546	10	0.13853	T	0.58	.	15.5918	0.76537	0.0:0.0:0.0:1.0	.	590	Q14517	FAT1_HUMAN	S	590	ENSP00000406229:T590S	ENSP00000260147:T590S	T	-	1	0	FAT1	187866208	1.000000	0.71417	0.107000	0.21349	0.537000	0.34900	6.112000	0.71547	2.263000	0.75096	0.533000	0.62120	ACT		0.393	FAT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000360209.3	NM_005245		8	22	0	0	0	1	0	8	22				
BIRC5	332	broad.mit.edu	37	17	76212113	76212113	+	Silent	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:76212113G>A	ENST00000301633.4	+	3	419	c.288G>A	c.(286-288)acG>acA	p.T96T	BIRC5_ENST00000350051.3_Intron|AC087645.1_ENST00000600484.1_Intron|BIRC5_ENST00000592734.1_Intron|BIRC5_ENST00000374948.2_Intron	NM_001012271.1	NP_001012271.1	O15392	BIRC5_HUMAN	baculoviral IAP repeat containing 5	74					apoptotic process (GO:0006915)|cell division (GO:0051301)|chromosome segregation (GO:0007059)|cytokinesis (GO:0000910)|establishment of chromosome localization (GO:0051303)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|mitotic nuclear division (GO:0007067)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of cell proliferation (GO:0008284)|positive regulation of exit from mitosis (GO:0031536)|positive regulation of mitotic cell cycle (GO:0045931)|protein complex localization (GO:0031503)|protein phosphorylation (GO:0006468)|spindle checkpoint (GO:0031577)|transcription, DNA-templated (GO:0006351)	centriole (GO:0005814)|chromosome passenger complex (GO:0032133)|chromosome, centromeric region (GO:0000775)|condensed chromosome kinetochore (GO:0000777)|cytoplasm (GO:0005737)|cytoplasmic microtubule (GO:0005881)|cytosol (GO:0005829)|interphase microtubule organizing center (GO:0031021)|microtubule (GO:0005874)|midbody (GO:0030496)|nuclear chromosome (GO:0000228)|nucleus (GO:0005634)|spindle microtubule (GO:0005876)	chaperone binding (GO:0051087)|cobalt ion binding (GO:0050897)|cofactor binding (GO:0048037)|cysteine-type endopeptidase inhibitor activity (GO:0004869)|cysteine-type endopeptidase inhibitor activity involved in apoptotic process (GO:0043027)|enzyme binding (GO:0019899)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|microtubule binding (GO:0008017)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|Ran GTPase binding (GO:0008536)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			kidney(1)|urinary_tract(1)	2			BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.153)			ggcggatcacgaggtcaggag	0.557																																						ENST00000301633.4																			0				kidney(1)|urinary_tract(1)	2						c.(286-288)acG>acA		baculoviral IAP repeat containing 5							31.0	34.0	33.0					17																	76212113		2203	4296	6499	SO:0001819	synonymous_variant	332				anti-apoptosis|apoptosis|cell division|chromosome segregation|cytokinesis|establishment of chromosome localization|G2/M transition of mitotic cell cycle|mitosis|mitotic prometaphase|positive regulation of exit from mitosis|positive regulation of mitotic cell cycle|protein complex localization|spindle checkpoint	centriole|chromosome passenger complex|chromosome, centromeric region|cytoplasm|cytoplasmic microtubule|cytosol|interphase microtubule organizing center|midbody|nuclear chromosome|spindle|spindle microtubule	caspase inhibitor activity|chaperone binding|cobalt ion binding|cofactor binding|cysteine-type endopeptidase inhibitor activity|metal ion binding|microtubule binding|protein heterodimerization activity|protein homodimerization activity|Ran GTPase binding|zinc ion binding	g.chr17:76212113G>A	U75285	CCDS11755.1, CCDS32751.1, CCDS32752.1	17q25.3	2013-01-17	2011-01-25		ENSG00000089685	ENSG00000089685		"""Baculoviral IAP repeat containing"""	593	protein-coding gene	gene with protein product	"""survivin variant 3 alpha"""	603352	"""apoptosis inhibitor 4"", ""baculoviral IAP repeat-containing 5"""	API4		8106347, 7947793	Standard	XR_243654		Approved	EPR-1, survivin	uc002jvf.3	O15392		ENST00000301633.4:c.288G>A	17.37:g.76212113G>A						AC087645.1_ENST00000600484.1_Intron|BIRC5_ENST00000374948.2_Intron|BIRC5_ENST00000350051.3_Intron|BIRC5_ENST00000592734.1_Intron	p.T96T	NM_001012271.1	NP_001012271.1	O15392	BIRC5_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.00269)|OV - Ovarian serous cystadenocarcinoma(97;0.153)		3	419	+			74					A2SUH6|B2R4R1|Q2I3N8|Q4VGX0|Q53F61|Q5MGC6|Q6FHL2|Q75SP2|Q9P2W8	Silent	SNP	ENST00000301633.4	37	c.288G>A	CCDS32752.1																																																																																				0.557	BIRC5-004	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000437234.3	NM_001168		7	19	0	0	0	1	0	7	19				
HEATR5B	54497	broad.mit.edu	37	2	37255248	37255248	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:37255248T>C	ENST00000233099.5	-	24	3766	c.3671A>G	c.(3670-3672)gAt>gGt	p.D1224G	HEATR5B_ENST00000354531.2_Missense_Mutation_p.D1224G	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN	HEAT repeat containing 5B	1224						extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77		all_hematologic(82;0.21)				CATGGTATCATCATCCATCTC	0.408																																						ENST00000233099.5																			0				breast(3)|cervix(3)|endometrium(3)|kidney(3)|large_intestine(11)|lung(31)|ovary(5)|pancreas(1)|prostate(1)|skin(10)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(3)	77						c.(3670-3672)gAt>gGt		HEAT repeat containing 5B							105.0	110.0	108.0					2																	37255248		2203	4300	6503	SO:0001583	missense	54497						binding	g.chr2:37255248T>C	AB037835	CCDS33181.1	2p22.2	2007-01-02			ENSG00000008869	ENSG00000008869			29273	protein-coding gene	gene with protein product						10718198	Standard	XM_005264379		Approved	KIAA1414, DKFZp686P15184	uc002rpp.1	Q9P2D3	OTTHUMG00000152158	ENST00000233099.5:c.3671A>G	2.37:g.37255248T>C	ENSP00000233099:p.Asp1224Gly					HEATR5B_ENST00000354531.2_Missense_Mutation_p.D1224G	p.D1224G	NM_019024.1	NP_061897.1	Q9P2D3	HTR5B_HUMAN			24	3766	-		all_hematologic(82;0.21)	1224					B5MDU8|Q7Z3B2|Q9NVL7	Missense_Mutation	SNP	ENST00000233099.5	37	c.3671A>G	CCDS33181.1	.	.	.	.	.	.	.	.	.	.	T	20.7	4.029329	0.75504	.	.	ENSG00000008869	ENST00000233099;ENST00000354531	T;T	0.60548	0.18;0.18	4.58	4.58	0.56647	.	0.000000	0.85682	D	0.000000	T	0.76118	0.3943	M	0.84326	2.69	0.80722	D	1	D	0.71674	0.998	D	0.72075	0.976	T	0.78471	-0.2191	10	0.44086	T	0.13	-17.232	14.243	0.65969	0.0:0.0:0.0:1.0	.	1224	Q9P2D3	HTR5B_HUMAN	G	1224	ENSP00000233099:D1224G;ENSP00000346531:D1224G	ENSP00000233099:D1224G	D	-	2	0	HEATR5B	37108752	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	7.905000	0.87416	1.833000	0.53350	0.383000	0.25322	GAT		0.408	HEATR5B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325492.1	NM_019024		8	53	0	0	0	1	0	8	53				
VWF	7450	broad.mit.edu	37	12	6103232	6103232	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr12:6103232G>C	ENST00000261405.5	-	37	6648	c.6394C>G	c.(6394-6396)Ctt>Gtt	p.L2132V		NM_000552.3	NP_000543	P04275	VWF_HUMAN	von Willebrand factor	2132	VWFD 4. {ECO:0000255|PROSITE- ProRule:PRU00580}.				blood coagulation (GO:0007596)|blood coagulation, intrinsic pathway (GO:0007597)|cell adhesion (GO:0007155)|cell-substrate adhesion (GO:0031589)|extracellular matrix organization (GO:0030198)|hemostasis (GO:0007599)|liver development (GO:0001889)|placenta development (GO:0001890)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|protein homooligomerization (GO:0051260)|response to wounding (GO:0009611)	endoplasmic reticulum (GO:0005783)|external side of plasma membrane (GO:0009897)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|platelet alpha granule (GO:0031091)|platelet alpha granule lumen (GO:0031093)|proteinaceous extracellular matrix (GO:0005578)|Weibel-Palade body (GO:0033093)	chaperone binding (GO:0051087)|collagen binding (GO:0005518)|glycoprotein binding (GO:0001948)|identical protein binding (GO:0042802)|immunoglobulin binding (GO:0019865)|integrin binding (GO:0005178)|protease binding (GO:0002020)|protein homodimerization activity (GO:0042803)|protein N-terminus binding (GO:0047485)			NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129					Antihemophilic Factor(DB00025)	TCGGGGACAAGACACTGCTCC	0.582																																						ENST00000261405.5																			0				NS(1)|breast(6)|central_nervous_system(5)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(8)|large_intestine(25)|lung(41)|ovary(7)|pancreas(2)|prostate(6)|skin(15)|stomach(1)|upper_aerodigestive_tract(5)	129						c.(6394-6396)Ctt>Gtt		von Willebrand factor	Antihemophilic Factor(DB00025)						92.0	78.0	83.0					12																	6103232		2203	4300	6503	SO:0001583	missense	7450				blood coagulation, intrinsic pathway|cell-substrate adhesion|platelet activation|platelet degranulation|protein homooligomerization	endoplasmic reticulum|platelet alpha granule lumen|proteinaceous extracellular matrix|Weibel-Palade body	chaperone binding|collagen binding|glycoprotein binding|immunoglobulin binding|integrin binding|protease binding|protein homodimerization activity|protein N-terminus binding	g.chr12:6103232G>C		CCDS8539.1	12p13.3	2014-09-17			ENSG00000110799	ENSG00000110799		"""Endogenous ligands"""	12726	protein-coding gene	gene with protein product		613160		F8VWF		2251280	Standard	NM_000552		Approved		uc001qnn.1	P04275	OTTHUMG00000168265	ENST00000261405.5:c.6394C>G	12.37:g.6103232G>C	ENSP00000261405:p.Leu2132Val						p.L2132V	NM_000552.3	NP_000543.2	P04275	VWF_HUMAN			37	6648	-			2132			VWFD 4.		Q8TCE8|Q99806	Missense_Mutation	SNP	ENST00000261405.5	37	c.6394C>G	CCDS8539.1	.	.	.	.	.	.	.	.	.	.	G	0.050	-1.254466	0.01457	.	.	ENSG00000110799	ENST00000261405	T	0.35421	1.31	5.17	5.17	0.71159	von Willebrand factor, type D domain (1);Uncharacterised domain, cysteine-rich (1);	0.337220	0.21791	N	0.069061	T	0.16385	0.0394	N	0.08118	0	0.41921	D	0.990512	B	0.23937	0.094	B	0.18871	0.023	T	0.14420	-1.0473	10	0.22109	T	0.4	.	6.323	0.21229	0.0959:0.0:0.719:0.185	.	2132	P04275	VWF_HUMAN	V	2132	ENSP00000261405:L2132V	ENSP00000261405:L2132V	L	-	1	0	VWF	5973493	0.311000	0.24536	0.872000	0.34217	0.014000	0.08584	1.307000	0.33516	2.413000	0.81919	0.561000	0.74099	CTT		0.582	VWF-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000399020.1	NM_000552		12	35	0	0	0	1	0	12	35				
R3HCC1L	27291	broad.mit.edu	37	10	99968077	99968077	+	Missense_Mutation	SNP	G	G	A	rs373657280	byFrequency	TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr10:99968077G>A	ENST00000298999.3	+	5	509	c.206G>A	c.(205-207)cGa>cAa	p.R69Q	R3HCC1L_ENST00000314594.5_5'UTR|R3HCC1L_ENST00000370586.2_Intron|R3HCC1L_ENST00000370584.3_Missense_Mutation_p.R69Q	NM_014472.4	NP_055287	Q7Z5L2	R3HCL_HUMAN	R3H domain and coiled-coil containing 1-like	69							nucleotide binding (GO:0000166)										CCGGAGGCTCGAAGACTAAAT	0.353													G|||	3	0.000599042	0.0	0.0	5008	,	,		19272	0.0		0.0	False		,,,				2504	0.0031					ENST00000298999.3																			0											c.(205-207)cGa>cAa		R3H domain and coiled-coil containing 1-like							71.0	78.0	76.0					10																	99968077		2203	4299	6502	SO:0001583	missense	27291							g.chr10:99968077G>A	AF525304	CCDS31267.1, CCDS58093.1, CCDS73178.1	10q24.2	2012-05-23	2012-05-23	2012-05-23	ENSG00000166024	ENSG00000166024			23512	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 28"""	C10orf28			Standard	NM_014472		Approved	GIDRP86, PSORT	uc001kox.4	Q7Z5L2	OTTHUMG00000018873	ENST00000298999.3:c.206G>A	10.37:g.99968077G>A	ENSP00000298999:p.Arg69Gln					R3HCC1L_ENST00000370584.3_Missense_Mutation_p.R69Q|R3HCC1L_ENST00000314594.5_5'UTR|R3HCC1L_ENST00000370586.2_Intron	p.R69Q	NM_014472.4	NP_055287.4					5	509	+								O60598|Q5W0B4|Q5W0B5|Q86VT9|Q8N9H0	Missense_Mutation	SNP	ENST00000298999.3	37	c.206G>A	CCDS31267.1	.	.	.	.	.	.	.	.	.	.	G	0	-2.730264	0.00089	.	.	ENSG00000166024	ENST00000370584;ENST00000538495;ENST00000298999	T;T	0.04758	3.56;3.56	5.81	0.746	0.18365	.	0.578419	0.16601	N	0.207353	T	0.01061	0.0035	N	0.00210	-1.845	0.09310	N	0.999993	B;B	0.10296	0.003;0.001	B;B	0.01281	0.0;0.0	T	0.47787	-0.9090	9	.	.	.	0.9296	7.6295	0.28230	0.6631:0.2621:0.0748:0.0	.	69;69	Q7Z5L2;Q7Z5L2-2	GIDRP_HUMAN;.	Q	69	ENSP00000359616:R69Q;ENSP00000298999:R69Q	.	R	+	2	0	C10orf28	99958067	0.046000	0.20272	0.000000	0.03702	0.003000	0.03518	0.453000	0.21811	-0.094000	0.12374	-2.142000	0.00338	CGA		0.353	R3HCC1L-001	PUTATIVE	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000049764.1	NM_014472		35	65	0	0	0	1	0	35	65				
NLRP14	338323	broad.mit.edu	37	11	7091526	7091526	+	Nonsense_Mutation	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:7091526C>A	ENST00000299481.4	+	11	3331	c.2985C>A	c.(2983-2985)taC>taA	p.Y995*		NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN	NLR family, pyrin domain containing 14	995					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|spermatogenesis (GO:0007283)		ATP binding (GO:0005524)			breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21				Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)		GGTTGGAATACTGTGGTTTGA	0.378																																						ENST00000299481.4																			0				breast(3)|large_intestine(7)|lung(1)|ovary(3)|pancreas(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)	21						c.(2983-2985)taC>taA		NLR family, pyrin domain containing 14							104.0	96.0	98.0					11																	7091526		2201	4296	6497	SO:0001587	stop_gained	338323				cell differentiation|multicellular organismal development|spermatogenesis		ATP binding	g.chr11:7091526C>A	BK001107	CCDS7776.1	11p15.4	2006-12-08	2006-12-08	2006-12-08		ENSG00000158077		"""Nucleotide-binding domain and leucine rich repeat containing"""	22939	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 14"""	609665	"""NACHT, leucine rich repeat and PYD containing 14"""	NALP14		12563287	Standard	NM_176822		Approved	NOD5, GC-LRR, Nalp-iota, PAN8, CLR11.2	uc001mfb.1	Q86W24		ENST00000299481.4:c.2985C>A	11.37:g.7091526C>A	ENSP00000299481:p.Tyr995*						p.Y995*	NM_176822.3	NP_789792.1	Q86W24	NAL14_HUMAN		Epithelial(150;4.62e-08)|BRCA - Breast invasive adenocarcinoma(625;0.0871)	11	3331	+			995					Q7RTR6	Nonsense_Mutation	SNP	ENST00000299481.4	37	c.2985C>A	CCDS7776.1	.	.	.	.	.	.	.	.	.	.	C	41	8.660416	0.98903	.	.	ENSG00000158077	ENST00000299481	.	.	.	4.13	2.17	0.27698	.	0.737504	0.11735	N	0.534587	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.02654	T	1	.	10.3883	0.44154	0.0:0.6118:0.3882:0.0	.	.	.	.	X	995	.	ENSP00000299481:Y995X	Y	+	3	2	NLRP14	7048102	0.000000	0.05858	0.828000	0.32881	0.887000	0.51463	-1.914000	0.01579	0.658000	0.30925	0.557000	0.71058	TAC		0.378	NLRP14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000384551.1	NM_176822		12	29	1	0	1.08611e-07	1	1.1679e-07	12	29				
SOHLH2	54937	broad.mit.edu	37	13	36744834	36744834	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr13:36744834G>A	ENST00000379881.3	-	10	1179	c.1091C>T	c.(1090-1092)aCt>aTt	p.T364I	SOHLH2_ENST00000554962.1_Missense_Mutation_p.T441I|CCDC169-SOHLH2_ENST00000511166.1_Missense_Mutation_p.T441I	NM_017826.2	NP_060296.2	Q9NX45	SOLH2_HUMAN	spermatogenesis and oogenesis specific basic helix-loop-helix 2	364					multicellular organismal development (GO:0007275)|oogenesis (GO:0048477)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)			autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)	KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)		ATATCTGACAGTATGCAAGGA	0.428																																						ENST00000379881.3																			0				autonomic_ganglia(1)|breast(1)|endometrium(1)|kidney(1)|large_intestine(13)|lung(5)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	26						c.(1090-1092)aCt>aTt		spermatogenesis and oogenesis specific basic helix-loop-helix 2							156.0	146.0	149.0					13																	36744834		2203	4300	6503	SO:0001583	missense	54937							g.chr13:36744834G>A	AK000456	CCDS9355.1, CCDS61309.1	13q13.3	2013-05-21			ENSG00000120669	ENSG00000120669		"""Basic helix-loop-helix proteins"""	26026	protein-coding gene	gene with protein product	"""spermatogenesis associated 28"""					12477932	Standard	NM_017826		Approved	FLJ20449, TEB1, bHLHe81, SPATA28		Q9NX45	OTTHUMG00000016728	ENST00000379881.3:c.1091C>T	13.37:g.36744834G>A	ENSP00000369210:p.Thr364Ile					CCDC169-SOHLH2_ENST00000511166.1_Missense_Mutation_p.T441I|SOHLH2_ENST00000554962.1_Missense_Mutation_p.T441I	p.T364I	NM_017826.2	NP_060296.2			KIRC - Kidney renal clear cell carcinoma(5;0.119)|Kidney(79;0.169)	all cancers(112;4.63e-08)|Epithelial(112;2.67e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.00272)|BRCA - Breast invasive adenocarcinoma(63;0.00685)|GBM - Glioblastoma multiforme(144;0.0273)	10	1179	-		Breast(139;0.0615)|Lung SC(185;0.0743)|Prostate(109;0.184)						B4DX90|Q5EGC3|Q8TC74|Q96QX4	Missense_Mutation	SNP	ENST00000379881.3	37	c.1091C>T	CCDS9355.1	.	.	.	.	.	.	.	.	.	.	G	14.55	2.569614	0.45798	.	.	ENSG00000120669;ENSG00000120669;ENSG00000250709	ENST00000379881;ENST00000554962;ENST00000511166	T;T;T	0.32023	1.47;1.47;1.47	5.04	5.04	0.67666	.	0.548909	0.16493	N	0.212012	T	0.26159	0.0638	L	0.29908	0.895	0.27220	N	0.959682	B;B	0.29432	0.244;0.244	B;B	0.29942	0.055;0.109	T	0.22941	-1.0202	10	0.72032	D	0.01	-1.2671	13.8817	0.63686	0.0:0.0:1.0:0.0	.	441;364	B4DX90;Q9NX45	.;SOLH2_HUMAN	I	364;441;441	ENSP00000369210:T364I;ENSP00000451542:T441I;ENSP00000421868:T441I	ENSP00000421868:T441I	T	-	2	0	CCDC169-SOHLH2;SOHLH2	35642834	0.995000	0.38212	0.975000	0.42487	0.272000	0.26649	4.389000	0.59639	2.353000	0.79882	0.591000	0.81541	ACT		0.428	SOHLH2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044477.2	NM_017826		42	93	0	0	0	1	0	42	93				
HPX	3263	broad.mit.edu	37	11	6459602	6459602	+	Silent	SNP	G	G	A	rs575933587		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:6459602G>A	ENST00000265983.3	-	5	574	c.474C>T	c.(472-474)ggC>ggT	p.G158G	HPX_ENST00000525057.1_5'UTR	NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN	hemopexin	158					cellular iron ion homeostasis (GO:0006879)|heme metabolic process (GO:0042168)|heme transport (GO:0015886)|hemoglobin metabolic process (GO:0020027)|positive regulation of humoral immune response mediated by circulating immunoglobulin (GO:0002925)|positive regulation of immunoglobulin production (GO:0002639)|positive regulation of interferon-gamma-mediated signaling pathway (GO:0060335)|positive regulation of tyrosine phosphorylation of Stat1 protein (GO:0042511)|viral process (GO:0016032)	blood microparticle (GO:0072562)|endocytic vesicle lumen (GO:0071682)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)	heme transporter activity (GO:0015232)|metal ion binding (GO:0046872)			endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)		AGAAGAGGACGCCTTCAGCTT	0.502																																						ENST00000265983.3																			0				endometrium(1)|large_intestine(2)|lung(11)|prostate(1)	15						c.(472-474)ggC>ggT		hemopexin							194.0	174.0	181.0					11																	6459602		2201	4296	6497	SO:0001819	synonymous_variant	3263				cellular iron ion homeostasis|interspecies interaction between organisms	extracellular space	heme transporter activity|metal ion binding|protein binding	g.chr11:6459602G>A	J03048	CCDS7763.1	11p15.5-p15.4	2012-10-02			ENSG00000110169	ENSG00000110169			5171	protein-coding gene	gene with protein product		142290				2989777, 2842511	Standard	NM_000613		Approved		uc001mdg.2	P02790	OTTHUMG00000133399	ENST00000265983.3:c.474C>T	11.37:g.6459602G>A						HPX_ENST00000525057.1_5'UTR	p.G158G	NM_000613.2	NP_000604.1	P02790	HEMO_HUMAN		Epithelial(150;5.46e-08)|BRCA - Breast invasive adenocarcinoma(625;0.19)	5	574	-		Medulloblastoma(188;0.00776)|all_neural(188;0.0652)|Breast(177;0.114)	158					B2R957	Silent	SNP	ENST00000265983.3	37	c.474C>T	CCDS7763.1																																																																																				0.502	HPX-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257256.1	NM_000613		69	144	0	0	0	1	0	69	144				
ANKRD13D	338692	broad.mit.edu	37	11	67069096	67069096	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:67069096C>T	ENST00000447274.2	+	13	2400	c.1225C>T	c.(1225-1227)Ctt>Ttt	p.L409F	SSH3_ENST00000308127.4_5'Flank|SSH3_ENST00000376757.5_5'Flank|ANKRD13D_ENST00000511455.2_Missense_Mutation_p.L496F|ANKRD13D_ENST00000514166.1_Missense_Mutation_p.L409F|ANKRD13D_ENST00000308440.6_Missense_Mutation_p.L409F|ANKRD13D_ENST00000504236.1_3'UTR|SSH3_ENST00000308298.7_5'Flank|ANKRD13D_ENST00000515828.1_Missense_Mutation_p.L146F			Q6ZTN6	AN13D_HUMAN	ankyrin repeat domain 13 family, member D	409						endosome (GO:0005768)|plasma membrane (GO:0005886)				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	9			BRCA - Breast invasive adenocarcinoma(15;2.26e-06)			GCAGAGCCTGCTTGAAGCGGG	0.662																																						ENST00000447274.2																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(3)|ovary(1)	9						c.(1225-1227)Ctt>Ttt		ankyrin repeat domain 13 family, member D							40.0	43.0	42.0					11																	67069096		2200	4295	6495	SO:0001583	missense	338692							g.chr11:67069096C>T	AK027313	CCDS31616.1, CCDS31616.2	11q13.2	2013-01-11		2005-08-09	ENSG00000172932	ENSG00000172932		"""Ankyrin repeat domain containing"""	27880	protein-coding gene	gene with protein product		615126					Standard	NM_207354		Approved		uc001okd.2	Q6ZTN6	OTTHUMG00000162929	ENST00000447274.2:c.1225C>T	11.37:g.67069096C>T	ENSP00000402616:p.Leu409Phe					ANKRD13D_ENST00000511455.2_Missense_Mutation_p.L496F|ANKRD13D_ENST00000515828.1_Missense_Mutation_p.L146F|ANKRD13D_ENST00000514166.1_Missense_Mutation_p.L409F|ANKRD13D_ENST00000308440.6_Missense_Mutation_p.L409F|ANKRD13D_ENST00000504236.1_3'UTR	p.L409F			Q6ZTN6	AN13D_HUMAN	BRCA - Breast invasive adenocarcinoma(15;2.26e-06)		13	2400	+			409					D6RCN6|Q0VAK0|Q0VGC3|Q6ZVD0|Q86SU1	Missense_Mutation	SNP	ENST00000447274.2	37	c.1225C>T		.	.	.	.	.	.	.	.	.	.	C	19.21	3.783659	0.70222	.	.	ENSG00000172932	ENST00000447274;ENST00000511455;ENST00000308440;ENST00000514166;ENST00000515828	T;T;T;T;T	0.53857	1.25;1.42;1.25;1.25;0.6	4.51	3.57	0.40892	Ubiquitin interacting motif (2);	0.088945	0.47093	D	0.000259	T	0.68933	0.3055	M	0.79805	2.47	0.58432	D	0.999998	D;D;D	0.89917	0.999;1.0;0.996	D;D;D	0.80764	0.994;0.989;0.957	T	0.71596	-0.4545	10	0.72032	D	0.01	-17.0481	8.0191	0.30398	0.0:0.7525:0.0:0.2475	.	146;496;409	Q6ZTN6-2;Q6ZTN6-3;Q6ZTN6	.;.;AN13D_HUMAN	F	409;496;409;409;146	ENSP00000402616:L409F;ENSP00000427130:L496F;ENSP00000310874:L409F;ENSP00000444404:L409F;ENSP00000443977:L146F	ENSP00000310874:L409F	L	+	1	0	ANKRD13D	66825672	1.000000	0.71417	0.997000	0.53966	0.621000	0.37620	2.011000	0.40922	2.333000	0.79357	0.561000	0.74099	CTT		0.662	ANKRD13D-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000371067.2	NM_207354		28	58	0	0	0	1	0	28	58				
DAB1	1600	broad.mit.edu	37	1	57480776	57480776	+	Silent	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:57480776C>T	ENST00000371231.1	-	13	1357	c.1323G>A	c.(1321-1323)caG>caA	p.Q441Q	DAB1_ENST00000371234.4_Silent_p.Q408Q|DAB1_ENST00000420954.2_Silent_p.Q406Q|DAB1_ENST00000371236.2_Silent_p.Q408Q|DAB1_ENST00000439789.2_Silent_p.Q322Q|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000414851.2_Silent_p.Q390Q			O75553	DAB1_HUMAN	Dab, reelin signal transducer, homolog 1 (Drosophila)	441					adult walking behavior (GO:0007628)|cell-cell adhesion involved in neuronal-glial interactions involved in cerebral cortex radial glia guided migration (GO:0021813)|cerebellum structural organization (GO:0021589)|dendrite development (GO:0016358)|Golgi localization (GO:0051645)|lateral motor column neuron migration (GO:0097477)|midgut development (GO:0007494)|negative regulation of astrocyte differentiation (GO:0048712)|negative regulation of axonogenesis (GO:0050771)|negative regulation of cell adhesion (GO:0007162)|negative regulation of JAK-STAT cascade (GO:0046426)|positive regulation of neuron differentiation (GO:0045666)|positive regulation of protein kinase activity (GO:0045860)|radial glia guided migration of Purkinje cell (GO:0021942)|response to drug (GO:0042493)|small GTPase mediated signal transduction (GO:0007264)|ventral spinal cord development (GO:0021517)	apical part of cell (GO:0045177)|brush border (GO:0005903)|cytosol (GO:0005829)|membrane (GO:0016020)|neuron projection (GO:0043005)|neuronal cell body (GO:0043025)|perinuclear region of cytoplasm (GO:0048471)|postsynaptic density (GO:0014069)				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						TGCCCATTTTCTGCCTGGGCT	0.617																																						ENST00000371236.2																			0				central_nervous_system(1)|cervix(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(12)|lung(28)|ovary(3)|skin(4)|upper_aerodigestive_tract(5)|urinary_tract(5)	64						c.(1222-1224)caG>caA		Dab, reelin signal transducer, homolog 1 (Drosophila)							74.0	73.0	73.0					1																	57480776		2203	4300	6503	SO:0001819	synonymous_variant	1600				cell differentiation|nervous system development			g.chr1:57480776C>T	BC067445	CCDS607.1	1p32-p31	2013-10-03	2013-10-03		ENSG00000173406	ENSG00000173406			2661	protein-coding gene	gene with protein product		603448	"""disabled (Drosophila) homolog 1"", ""disabled homolog 1 (Drosophila)"", ""Dab, reelin signal transducer, homolog 1 (Drosophila)"", ""Dab reelin signal transducer 1"""			9790777	Standard	NM_021080		Approved		uc001cys.1	O75553	OTTHUMG00000008391	ENST00000371231.1:c.1323G>A	1.37:g.57480776C>T						DAB1_ENST00000371231.1_Silent_p.Q441Q|DAB1_ENST00000439789.2_Silent_p.Q322Q|DAB1_ENST00000485760.1_5'UTR|DAB1_ENST00000371234.4_Silent_p.Q408Q|DAB1_ENST00000420954.2_Silent_p.Q406Q|DAB1_ENST00000414851.2_Silent_p.Q390Q	p.Q408Q			O75553	DAB1_HUMAN			12	1487	-			441					A4FU90|B3KTG3|Q4LE59|Q5T6M6|Q5T6M9|Q5T835|Q5T836|Q5T837|Q6NWS9|Q6NWT0|Q6NWT1|Q9NYA8	Silent	SNP	ENST00000371231.1	37	c.1224G>A																																																																																					0.617	DAB1-010	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000027962.1	NM_021080		32	56	0	0	0	1	0	32	56				
STRN3	29966	broad.mit.edu	37	14	31364661	31364661	+	Missense_Mutation	SNP	T	T	G			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr14:31364661T>G	ENST00000357479.5	-	18	2546	c.2350A>C	c.(2350-2352)Ata>Cta	p.I784L	STRN3_ENST00000355683.5_Missense_Mutation_p.I700L	NM_001083893.1	NP_001077362.1	Q13033	STRN3_HUMAN	striatin, calmodulin binding protein 3	784					negative regulation of intracellular estrogen receptor signaling pathway (GO:0033147)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|response to estradiol (GO:0032355)	cytoplasm (GO:0005737)|dendrite (GO:0030425)|Golgi apparatus (GO:0005794)|neuronal cell body (GO:0043025)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	armadillo repeat domain binding (GO:0070016)|calmodulin binding (GO:0005516)|protein complex binding (GO:0032403)|protein phosphatase 2A binding (GO:0051721)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20	Hepatocellular(127;0.0877)|Breast(36;0.148)		LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)		GCACTAGCTATATATGCTTTT	0.378																																						ENST00000355683.5																			0				NS(1)|breast(1)|endometrium(2)|kidney(3)|large_intestine(2)|lung(7)|ovary(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(1)	20						c.(2098-2100)Ata>Cta		striatin, calmodulin binding protein 3							93.0	80.0	84.0					14																	31364661		2203	4300	6503	SO:0001583	missense	29966				negative regulation of estrogen receptor signaling pathway|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|response to estradiol stimulus	cytoplasm|dendrite|Golgi apparatus|neuronal cell body|nucleoplasm|nucleus|plasma membrane|protein complex	armadillo repeat domain binding|calmodulin binding|protein complex binding|protein phosphatase 2A binding|sequence-specific DNA binding transcription factor activity	g.chr14:31364661T>G		CCDS9641.1, CCDS41938.1	14q13-q21	2013-01-10			ENSG00000196792	ENSG00000196792		"""WD repeat domain containing"""	15720	protein-coding gene	gene with protein product	"""cell cycle S/G2 nuclear autoantigen"""	614766				7864889, 10681496	Standard	NM_014574		Approved	SG2NA	uc001wqu.2	Q13033	OTTHUMG00000140201	ENST00000357479.5:c.2350A>C	14.37:g.31364661T>G	ENSP00000350071:p.Ile784Leu					STRN3_ENST00000357479.5_Missense_Mutation_p.I784L	p.I700L	NM_014574.3	NP_055389.3	Q13033	STRN3_HUMAN	LUAD - Lung adenocarcinoma(48;0.00192)|Lung(238;0.0119)|BRCA - Breast invasive adenocarcinoma(188;0.0805)	GBM - Glioblastoma multiforme(265;0.0124)	16	2313	-	Hepatocellular(127;0.0877)|Breast(36;0.148)		784					A2RTX7|A6NHZ7|Q9NRA5	Missense_Mutation	SNP	ENST00000357479.5	37	c.2098A>C	CCDS41938.1	.	.	.	.	.	.	.	.	.	.	T	28.3	4.907573	0.92107	.	.	ENSG00000196792	ENST00000355683;ENST00000357479	T;T	0.77750	-1.12;-1.12	5.51	5.51	0.81932	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);WD40-repeat-containing domain (1);	0.000000	0.85682	D	0.000000	D	0.83362	0.5238	L	0.49640	1.575	0.80722	D	1	B;P	0.48016	0.383;0.904	B;P	0.58873	0.316;0.847	D	0.84234	0.0468	10	0.54805	T	0.06	-8.4741	15.6356	0.76949	0.0:0.0:0.0:1.0	.	700;784	Q13033-2;Q13033	.;STRN3_HUMAN	L	700;784	ENSP00000347909:I700L;ENSP00000350071:I784L	ENSP00000347909:I700L	I	-	1	0	STRN3	30434412	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	7.997000	0.88414	2.093000	0.63338	0.482000	0.46254	ATA		0.378	STRN3-002	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000409713.1	NM_014574		6	12	0	0	0	1	0	6	12				
CELSR1	9620	broad.mit.edu	37	22	46760000	46760000	+	Silent	SNP	G	G	A	rs201676998		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr22:46760000G>A	ENST00000262738.3	-	34	8927	c.8928C>T	c.(8926-8928)tgC>tgT	p.C2976C		NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN	cadherin, EGF LAG seven-pass G-type receptor 1	2976					anterior/posterior pattern specification (GO:0009952)|apical protein localization (GO:0045176)|central nervous system development (GO:0007417)|establishment of body hair planar orientation (GO:0048105)|establishment of planar polarity (GO:0001736)|establishment of planar polarity of embryonic epithelium (GO:0042249)|G-protein coupled receptor signaling pathway (GO:0007186)|hair follicle development (GO:0001942)|homophilic cell adhesion (GO:0007156)|inner ear morphogenesis (GO:0042472)|lateral sprouting involved in lung morphogenesis (GO:0060490)|locomotory behavior (GO:0007626)|neural tube closure (GO:0001843)|neuron migration (GO:0001764)|neuropeptide signaling pathway (GO:0007218)|orthogonal dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060488)|planar cell polarity pathway involved in neural tube closure (GO:0090179)|planar dichotomous subdivision of terminal units involved in lung branching morphogenesis (GO:0060489)|protein localization involved in establishment of planar polarity (GO:0090251)|regulation of actin cytoskeleton organization (GO:0032956)|Rho protein signal transduction (GO:0007266)|wound healing (GO:0042060)	integral component of membrane (GO:0016021)|integral component of plasma membrane (GO:0005887)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)|G-protein coupled receptor activity (GO:0004930)|protein dimerization activity (GO:0046983)|transmembrane signaling receptor activity (GO:0004888)			breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)		CTGTGATGGCGCAGTCGGGGC	0.697													G|||	1	0.000199681	0.0	0.0	5008	,	,		9461	0.001		0.0	False		,,,				2504	0.0					ENST00000262738.3																			0				breast(8)|central_nervous_system(5)|cervix(1)|endometrium(15)|haematopoietic_and_lymphoid_tissue(5)|kidney(4)|large_intestine(13)|lung(27)|ovary(2)|pancreas(2)|prostate(3)|skin(6)|upper_aerodigestive_tract(1)|urinary_tract(3)	95						c.(8926-8928)tgC>tgT		cadherin, EGF LAG seven-pass G-type receptor 1							31.0	36.0	34.0					22																	46760000		2201	4298	6499	SO:0001819	synonymous_variant	9620				central nervous system development|homophilic cell adhesion|neural tube closure|neuropeptide signaling pathway	integral to plasma membrane	calcium ion binding|G-protein coupled receptor activity|protein dimerization activity	g.chr22:46760000G>A	AF231024	CCDS14076.1	22q13.31	2014-08-08	2013-02-18		ENSG00000075275	ENSG00000075275		"""Cadherins / Major cadherins"", ""-"", ""GPCR / Class B : Orphans"""	1850	protein-coding gene	gene with protein product	"""flamingo homolog 2 (Drosophila)"""	604523	"""cadherin, EGF LAG seven-pass G-type receptor 1, flamingo (Drosophila) homolog"""			9339365	Standard	XM_006724383		Approved	ME2, HFMI2, FMI2, CDHF9	uc003bhw.1	Q9NYQ6	OTTHUMG00000150423	ENST00000262738.3:c.8928C>T	22.37:g.46760000G>A							p.C2976C	NM_014246.1	NP_055061.1	Q9NYQ6	CELR1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (28;0.00643)|BRCA - Breast invasive adenocarcinoma(115;0.171)	34	8927	-		Ovarian(80;0.00142)|Breast(42;0.00296)|all_neural(38;0.0416)|Colorectal(5;0.0766)	2976					O95722|Q5TH47|Q9BWQ5|Q9Y506|Q9Y526	Silent	SNP	ENST00000262738.3	37	c.8928C>T	CCDS14076.1																																																																																				0.697	CELSR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318037.1	NM_014246		18	53	0	0	0	1	0	18	53				
DNAJA3	9093	broad.mit.edu	37	16	4500478	4500478	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr16:4500478G>A	ENST00000262375.6	+	10	1396	c.1319G>A	c.(1318-1320)gGc>gAc	p.G440D	DNAJA3_ENST00000355296.4_Missense_Mutation_p.G440D|DNAJA3_ENST00000431375.2_Missense_Mutation_p.G287D	NM_005147.5	NP_005138.3	Q96EY1	DNJA3_HUMAN	DnaJ (Hsp40) homolog, subfamily A, member 3	440					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation-induced cell death of T cells (GO:0006924)|cell aging (GO:0007569)|mitochondrial DNA replication (GO:0006264)|negative regulation of apoptotic process (GO:0043066)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0043154)|negative regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043124)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|negative regulation of programmed cell death (GO:0043069)|negative regulation of protein kinase activity (GO:0006469)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuromuscular junction development (GO:0007528)|positive regulation of apoptotic process (GO:0043065)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T cell proliferation (GO:0042102)|protein folding (GO:0006457)|protein stabilization (GO:0050821)|response to heat (GO:0009408)|response to interferon-gamma (GO:0034341)|skeletal muscle acetylcholine-gated channel clustering (GO:0071340)|small GTPase mediated signal transduction (GO:0007264)|T cell differentiation in thymus (GO:0033077)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extrinsic component of plasma membrane (GO:0019897)|intracellular membrane-bounded organelle (GO:0043231)|mitochondrial matrix (GO:0005759)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|postsynaptic membrane (GO:0045211)	ATP binding (GO:0005524)|interferon-gamma receptor binding (GO:0005133)|metal ion binding (GO:0046872)|NF-kappaB binding (GO:0051059)|protein kinase binding (GO:0019901)|small GTPase regulator activity (GO:0005083)|transcription factor binding (GO:0008134)			NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|upper_aerodigestive_tract(2)	15						ACGGTGAACGGCGTCACCCTC	0.607																																						ENST00000262375.6																			0				NS(1)|breast(3)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(5)|ovary(2)|upper_aerodigestive_tract(2)	15						c.(1318-1320)gGc>gAc		DnaJ (Hsp40) homolog, subfamily A, member 3							45.0	36.0	39.0					16																	4500478		2197	4298	6495	SO:0001583	missense	9093				activation of caspase activity|negative regulation of apoptosis|negative regulation of caspase activity|negative regulation of cell proliferation|negative regulation of I-kappaB kinase/NF-kappaB cascade|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of NF-kappaB transcription factor activity|negative regulation of protein kinase activity|neuromuscular junction development|positive regulation of apoptosis|positive regulation of protein ubiquitination|protein folding|protein stabilization|response to heat|response to interferon-gamma	cytosol|mitochondrial matrix|mitochondrial nucleoid|nucleus	ATP binding|heat shock protein binding|interferon-gamma receptor binding|metal ion binding|NF-kappaB binding|protein kinase binding	g.chr16:4500478G>A	AF061749	CCDS10515.1, CCDS45400.1, CCDS66930.1	16p13.3	2011-09-02			ENSG00000103423	ENSG00000103423		"""Heat shock proteins / DNAJ (HSP40)"""	11808	protein-coding gene	gene with protein product		608382		TID1		9683573	Standard	NM_005147		Approved	hTid-1	uc002cwk.3	Q96EY1	OTTHUMG00000129470	ENST00000262375.6:c.1319G>A	16.37:g.4500478G>A	ENSP00000262375:p.Gly440Asp					DNAJA3_ENST00000431375.2_Missense_Mutation_p.G287D|DNAJA3_ENST00000355296.4_Missense_Mutation_p.G440D	p.G440D	NM_005147.5	NP_005138.3	Q96EY1	DNJA3_HUMAN			10	1396	+			440					B2RAJ5|B4DI33|E7ES32|O75472|Q8WUJ6|Q8WXJ3|Q96D76|Q96IV1|Q9NYH8	Missense_Mutation	SNP	ENST00000262375.6	37	c.1319G>A	CCDS10515.1	.	.	.	.	.	.	.	.	.	.	G	27.9	4.868759	0.91587	.	.	ENSG00000103423	ENST00000262375;ENST00000355296;ENST00000431375	T;T;T	0.66460	-0.1;-0.21;0.76	5.63	5.63	0.86233	.	0.000000	0.85682	D	0.000000	T	0.81969	0.4935	M	0.71206	2.165	0.80722	D	1	D;D;D	0.89917	1.0;0.991;1.0	D;D;D	0.97110	1.0;0.937;1.0	T	0.83291	-0.0033	10	0.87932	D	0	-18.2857	18.6707	0.91510	0.0:0.0:1.0:0.0	.	287;440;440	E7ES32;Q96EY1-2;Q96EY1	.;.;DNJA3_HUMAN	D	440;440;287	ENSP00000262375:G440D;ENSP00000347445:G440D;ENSP00000393970:G287D	ENSP00000262375:G440D	G	+	2	0	DNAJA3	4440479	1.000000	0.71417	0.910000	0.35882	0.662000	0.39071	9.631000	0.98424	2.659000	0.90383	0.561000	0.74099	GGC		0.607	DNAJA3-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251633.1			5	10	0	0	0	1	0	5	10				
HYDIN	54768	broad.mit.edu	37	16	70866892	70866892	+	Silent	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr16:70866892C>T	ENST00000393567.2	-	80	13908	c.13758G>A	c.(13756-13758)gaG>gaA	p.E4586E		NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN	HYDIN, axonemal central pair apparatus protein	4586					cilium assembly (GO:0042384)|cilium movement (GO:0003341)|epithelial cell development (GO:0002064)|trachea development (GO:0060438)|ventricular system development (GO:0021591)	cell projection (GO:0042995)				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43		Ovarian(137;0.0654)				CAAAAGAAACCTCCATGCCTG	0.428																																						ENST00000393567.2																			0				breast(1)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(17)|lung(12)|ovary(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	43						c.(13756-13758)gaG>gaA		HYDIN, axonemal central pair apparatus protein							11.0	10.0	10.0					16																	70866892		1780	4012	5792	SO:0001819	synonymous_variant	54768							g.chr16:70866892C>T	AK074472	CCDS10897.1, CCDS56004.1, CCDS56005.1, CCDS59269.1	16q22.2	2014-02-05	2012-01-06		ENSG00000157423	ENSG00000157423		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	19368	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 31"""	610812	"""hydrocephalus inducing"", ""hydrocephalus inducing homolog (mouse)"""			12719380, 23022101	Standard	NM_001198542		Approved	DKFZp434D0513, KIAA1864, PPP1R31, CILD5	uc031qwy.1	Q4G0P3	OTTHUMG00000137584	ENST00000393567.2:c.13758G>A	16.37:g.70866892C>T							p.E4586E	NM_001270974.1	NP_001257903.1	Q4G0P3	HYDIN_HUMAN			80	13908	-		Ovarian(137;0.0654)	4586					A6NC70|A6NLZ0|B4DQY4|B4DRN4|F5H6V3|Q8N3H8|Q8N3P6|Q8TC08|Q96JG3|Q96SS4|Q9H5U3|Q9H9B8|Q9NTI0|Q9UBE5	Silent	SNP	ENST00000393567.2	37	c.13758G>A	CCDS59269.1																																																																																				0.428	HYDIN-001	PUTATIVE	not_organism_supported|basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000398624.3			6	16	0	0	0	1	0	6	16				
ZMIZ2	83637	broad.mit.edu	37	7	44798983	44798983	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:44798983C>A	ENST00000309315.4	+	7	1040	c.917C>A	c.(916-918)cCt>cAt	p.P306H	ZMIZ2_ENST00000265346.7_Missense_Mutation_p.P306H|ZMIZ2_ENST00000441627.1_Missense_Mutation_p.P306H|ZMIZ2_ENST00000413916.1_Missense_Mutation_p.P274H|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.P274H	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN	zinc finger, MIZ-type containing 2	306	Pro-rich.				positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|transcription, DNA-templated (GO:0006351)	mitochondrion (GO:0005739)|nuclear replication fork (GO:0043596)|nucleus (GO:0005634)	ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|zinc ion binding (GO:0008270)			breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						CCTTCCTACCCTGGGCACAGG	0.672																																					NSCLC(20;604 852 1948 16908 50522)	ENST00000309315.4																			0				breast(3)|endometrium(2)|kidney(3)|large_intestine(6)|lung(10)|ovary(6)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	35						c.(916-918)cCt>cAt		zinc finger, MIZ-type containing 2							40.0	48.0	45.0					7																	44798983		2010	4147	6157	SO:0001583	missense	83637				positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear replication fork	ligand-dependent nuclear receptor transcription coactivator activity|protein binding|zinc ion binding	g.chr7:44798983C>A	AK090415	CCDS43576.1, CCDS43577.1, CCDS75591.1	7p13	2009-11-06			ENSG00000122515	ENSG00000122515		"""Zinc fingers, MIZ-type"""	22229	protein-coding gene	gene with protein product		611196					Standard	XM_005249866		Approved	KIAA1886, hZIMP7, ZIMP7, DKFZp761I2123, NET27	uc003tlr.3	Q8NF64	OTTHUMG00000155817	ENST00000309315.4:c.917C>A	7.37:g.44798983C>A	ENSP00000311778:p.Pro306His					ZMIZ2_ENST00000413916.1_Missense_Mutation_p.P274H|ZMIZ2_ENST00000441627.1_Missense_Mutation_p.P306H|ZMIZ2_ENST00000265346.7_Missense_Mutation_p.P306H|ZMIZ2_ENST00000433667.1_Missense_Mutation_p.P274H	p.P306H	NM_031449.3	NP_113637.3	Q8NF64	ZMIZ2_HUMAN			7	1040	+			306			Pro-rich.		A4D2K7|D3DVL1|O94790|Q0VGB4|Q659A8|Q6JKL5|Q8WTX8|Q96Q01|Q9BQH7	Missense_Mutation	SNP	ENST00000309315.4	37	c.917C>A	CCDS43576.1	.	.	.	.	.	.	.	.	.	.	C	20.3	3.962949	0.74016	.	.	ENSG00000122515	ENST00000413916;ENST00000309315;ENST00000441627;ENST00000433667;ENST00000265346;ENST00000414051	T;T;T;T;T	0.74421	1.36;-0.84;-0.84;-0.84;1.37	4.67	4.67	0.58626	.	0.227351	0.29300	N	0.012557	D	0.84032	0.5383	M	0.73217	2.22	0.40793	D	0.983272	D;D;D	0.62365	0.988;0.991;0.988	P;P;P	0.61275	0.736;0.886;0.736	D	0.86724	0.1944	10	0.72032	D	0.01	-2.1874	17.3623	0.87354	0.0:1.0:0.0:0.0	.	306;306;274	Q8NF64-2;Q8NF64;Q8NF64-3	.;ZMIZ2_HUMAN;.	H	274;306;306;274;306;306	ENSP00000409648:P274H;ENSP00000311778:P306H;ENSP00000414723:P306H;ENSP00000396601:P274H;ENSP00000265346:P306H	ENSP00000265346:P306H	P	+	2	0	ZMIZ2	44765508	0.990000	0.36364	0.970000	0.41538	0.992000	0.81027	3.038000	0.49783	2.413000	0.81919	0.462000	0.41574	CCT		0.672	ZMIZ2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000341790.1	NM_031449		38	76	1	0	6.29468e-14	1	7.19727e-14	38	76				
CDH4	1002	broad.mit.edu	37	20	60511926	60511926	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr20:60511926C>A	ENST00000360469.5	+	16	2764	c.2676C>A	c.(2674-2676)gaC>gaA	p.D892E	CDH4_ENST00000543233.1_Missense_Mutation_p.D818E	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	cadherin 4, type 1, R-cadherin (retinal)	892					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74			BRCA - Breast invasive adenocarcinoma(19;2.36e-08)			GGGACCAAGACTACGATTACC	0.592																																						ENST00000360469.5																			0				NS(2)|breast(2)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(17)|liver(2)|lung(25)|ovary(2)|prostate(1)|skin(7)|upper_aerodigestive_tract(1)|urinary_tract(1)	74						c.(2674-2676)gaC>gaA		cadherin 4, type 1, R-cadherin (retinal)							76.0	60.0	65.0					20																	60511926		2203	4300	6503	SO:0001583	missense	1002				adherens junction organization|cell junction assembly		calcium ion binding	g.chr20:60511926C>A	L34059	CCDS13488.1, CCDS58784.1	20q13.3	2010-01-26			ENSG00000179242	ENSG00000179242		"""Cadherins / Major cadherins"""	1763	protein-coding gene	gene with protein product	"""R-Cadherin"""	603006				10191097, 10516427	Standard	NM_001794		Approved		uc002ybn.2	P55283	OTTHUMG00000032890	ENST00000360469.5:c.2676C>A	20.37:g.60511926C>A	ENSP00000353656:p.Asp892Glu					CDH4_ENST00000543233.1_Missense_Mutation_p.D818E	p.D892E	NM_001794.3	NP_001785.2	P55283	CADH4_HUMAN	BRCA - Breast invasive adenocarcinoma(19;2.36e-08)		16	2764	+			892					B3KWB8|G3V1P8|Q2M208|Q5VZ44|Q9BZ05	Missense_Mutation	SNP	ENST00000360469.5	37	c.2676C>A	CCDS13488.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.625236	0.87560	.	.	ENSG00000179242	ENST00000360469;ENST00000536643;ENST00000543233	T;T	0.78126	-1.15;-1.15	4.49	3.54	0.40534	Cadherin, cytoplasmic domain (1);	0.052882	0.64402	D	0.000001	T	0.75117	0.3806	L	0.52573	1.65	0.80722	D	1	P	0.37038	0.579	B	0.43728	0.429	T	0.70784	-0.4778	9	.	.	.	.	11.5232	0.50565	0.0:0.9101:0.0:0.0899	.	892	P55283	CADH4_HUMAN	E	892;800;818	ENSP00000353656:D892E;ENSP00000443301:D818E	.	D	+	3	2	CDH4	59945321	1.000000	0.71417	0.999000	0.59377	0.951000	0.60555	2.501000	0.45389	0.867000	0.35654	0.467000	0.42956	GAC		0.592	CDH4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000079965.2	NM_001794		16	46	1	0	1.37285e-15	1	1.59344e-15	16	46				
MARCKS	4082	broad.mit.edu	37	6	114181119	114181119	+	Silent	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr6:114181119C>T	ENST00000368635.4	+	2	744	c.363C>T	c.(361-363)gcC>gcT	p.A121A		NM_002356.5	NP_002347.5	P29966	MARCS_HUMAN	myristoylated alanine-rich protein kinase C substrate	121					energy reserve metabolic process (GO:0006112)|regulation of insulin secretion (GO:0050796)|small molecule metabolic process (GO:0044281)	actin cytoskeleton (GO:0015629)|cell cortex (GO:0005938)|centrosome (GO:0005813)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|germinal vesicle (GO:0042585)|plasma membrane (GO:0005886)	actin filament binding (GO:0051015)|calmodulin binding (GO:0005516)			breast(1)|kidney(1)|large_intestine(1)|lung(1)	4		all_cancers(87;7.65e-05)|all_epithelial(87;0.000296)|all_hematologic(75;0.0172)|Colorectal(196;0.0317)|all_lung(197;0.198)		Epithelial(106;1.59e-07)|all cancers(137;9.85e-07)|OV - Ovarian serous cystadenocarcinoma(136;0.000322)		CGCCCACGGCCGCGGAGGGAG	0.751																																						ENST00000368635.4																			0				breast(1)|kidney(1)|large_intestine(1)|lung(1)	4						c.(361-363)gcC>gcT		myristoylated alanine-rich protein kinase C substrate							3.0	4.0	3.0					6																	114181119		992	2389	3381	SO:0001819	synonymous_variant	4082				energy reserve metabolic process|regulation of insulin secretion	actin cytoskeleton|plasma membrane	actin filament binding|calmodulin binding	g.chr6:114181119C>T	M68956	CCDS5101.1	6q21	2014-04-10	2001-12-17	2001-12-20	ENSG00000155130	ENSG00000277443			6759	protein-coding gene	gene with protein product		177061	"""myristoylated alanine-rich protein kinase C substrate (MARCKS, 80K-L)"""	MACS		1560845, 8420923	Standard	NM_002356		Approved	PKCSL, 80K-L	uc003pvy.4	P29966	OTTHUMG00000188327	ENST00000368635.4:c.363C>T	6.37:g.114181119C>T							p.A121A	NM_002356.5	NP_002347.5	P29966	MARCS_HUMAN		Epithelial(106;1.59e-07)|all cancers(137;9.85e-07)|OV - Ovarian serous cystadenocarcinoma(136;0.000322)	2	744	+		all_cancers(87;7.65e-05)|all_epithelial(87;0.000296)|all_hematologic(75;0.0172)|Colorectal(196;0.0317)|all_lung(197;0.198)	121					E1P560|Q2LA83|Q5TDB7	Silent	SNP	ENST00000368635.4	37	c.363C>T	CCDS5101.1																																																																																				0.751	MARCKS-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041903.1	NM_002356		8	6	0	0	0	1	0	8	6				
FANCI	55215	broad.mit.edu	37	15	89811724	89811724	+	Missense_Mutation	SNP	G	G	A	rs368711186	byFrequency	TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr15:89811724G>A	ENST00000310775.7	+	10	936	c.850G>A	c.(850-852)Gaa>Aaa	p.E284K	FANCI_ENST00000300027.8_Missense_Mutation_p.E284K	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN	Fanconi anemia, complementation group I	284					cell cycle (GO:0007049)|DNA repair (GO:0006281)|positive regulation of protein ubiquitination (GO:0031398)	membrane (GO:0016020)|nucleoplasm (GO:0005654)	DNA binding (GO:0003677)|DNA polymerase binding (GO:0070182)			breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31	Lung NSC(78;0.0472)|all_lung(78;0.089)					ATTGGACTATGAACTAGGCAG	0.403								Involved in tolerance or repair of DNA crosslinks	Fanconi Anemia				G|||	2	0.000399361	0.0015	0.0	5008	,	,		20169	0.0		0.0	False		,,,				2504	0.0					ENST00000310775.7																			0				breast(1)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(3)|lung(7)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	31						c.(850-852)Gaa>Aaa	Involved in tolerance or repair of DNA crosslinks	Fanconi anemia, complementation group I		G	LYS/GLU,LYS/GLU	0,4400		0,0,2200	204.0	184.0	191.0		850,850	4.6	0.6	15		191	1,8597		0,1,4298	no	missense,missense	FANCI	NM_001113378.1,NM_018193.2	56,56	0,1,6498	AA,AG,GG		0.0116,0.0,0.0077	possibly-damaging,possibly-damaging	284/1329,284/1269	89811724	1,12997	2200	4299	6499	SO:0001583	missense	55215	Fanconi Anemia	Familial Cancer Database	Pancytopenia Dysmelia, FA (several complementation groups)	cell cycle|DNA repair	nucleoplasm	protein binding	g.chr15:89811724G>A	BC004277	CCDS10349.2, CCDS45346.1	15q26.1	2014-09-17	2007-05-03	2007-05-03	ENSG00000140525	ENSG00000140525		"""Fanconi anemia, complementation groups"""	25568	protein-coding gene	gene with protein product		611360	"""KIAA1794"""	KIAA1794		14630800, 17460694, 17412408	Standard	NM_001113378		Approved	FLJ10719	uc010bnp.1	Q9NVI1	OTTHUMG00000132993	ENST00000310775.7:c.850G>A	15.37:g.89811724G>A	ENSP00000310842:p.Glu284Lys					FANCI_ENST00000300027.8_Missense_Mutation_p.E284K	p.E284K	NM_001113378.1	NP_001106849.1	Q9NVI1	FANCI_HUMAN			10	936	+	Lung NSC(78;0.0472)|all_lung(78;0.089)		284					A4ZVE4|A5YMH4|A6NJZ0|Q96JN1|Q96ST0|Q9BT96	Missense_Mutation	SNP	ENST00000310775.7	37	c.850G>A	CCDS45346.1	.	.	.	.	.	.	.	.	.	.	G	35	5.460203	0.96240	0.0	1.16E-4	ENSG00000140525	ENST00000300027;ENST00000310775;ENST00000447611	T;T;T	0.70164	-0.46;-0.46;0.26	4.58	4.58	0.56647	.	0.302450	0.35555	N	0.003123	T	0.72708	0.3494	M	0.67953	2.075	0.80722	D	1	B;P;P	0.45212	0.138;0.853;0.765	B;P;B	0.49999	0.206;0.628;0.392	T	0.70923	-0.4740	10	0.23891	T	0.37	-9.0255	17.3492	0.87318	0.0:0.0:1.0:0.0	.	284;284;284	Q9NVI1;Q9NVI1-2;Q9NVI1-1	FANCI_HUMAN;.;.	K	284	ENSP00000300027:E284K;ENSP00000310842:E284K;ENSP00000413249:E284K	ENSP00000300027:E284K	E	+	1	0	FANCI	87612728	1.000000	0.71417	0.562000	0.28370	0.984000	0.73092	9.237000	0.95368	2.086000	0.62901	0.561000	0.74099	GAA		0.403	FANCI-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000421140.1	NM_018193		51	93	0	0	0	1	0	51	93				
MAGED2	10916	broad.mit.edu	37	X	54841145	54841145	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chrX:54841145C>A	ENST00000375068.1	+	11	1556	c.1323C>A	c.(1321-1323)ttC>ttA	p.F441L	SNORA11_ENST00000408789.1_RNA|MAGED2_ENST00000375062.4_Missense_Mutation_p.F356L|MAGED2_ENST00000375058.1_Missense_Mutation_p.F441L|MAGED2_ENST00000396224.1_Missense_Mutation_p.F441L|MAGED2_ENST00000218439.4_Missense_Mutation_p.F441L|MAGED2_ENST00000375060.1_Missense_Mutation_p.F356L|MAGED2_ENST00000347546.4_Missense_Mutation_p.F423L|MAGED2_ENST00000375053.2_Missense_Mutation_p.F441L			Q9UNF1	MAGD2_HUMAN	melanoma antigen family D, 2	441	MAGE. {ECO:0000255|PROSITE- ProRule:PRU00127}.					membrane (GO:0016020)				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						AATATGAGTTCTTCTGGGGCC	0.478																																						ENST00000375068.1																			0				breast(2)|endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(8)|ovary(2)|prostate(1)|skin(1)|urinary_tract(1)	26						c.(1321-1323)ttC>ttA		melanoma antigen family D, 2							85.0	72.0	76.0					X																	54841145		2203	4300	6503	SO:0001583	missense	10916							g.chrX:54841145C>A	AF128527	CCDS14362.1	Xp11.2	2008-08-01			ENSG00000102316	ENSG00000102316			16353	protein-coding gene	gene with protein product	"""hepatocellular carcinoma associated protein"", ""breast cancer associated gene 1"", ""melanoma-associated antigen D2"", ""hepatocellular carcinoma-associated protein HCA10"""	300470					Standard	NM_014599		Approved	JCL-1, BCG1, 11B6, MAGE-D2, HCA10, MAGED, MGC8386	uc004dtk.1	Q9UNF1	OTTHUMG00000021638	ENST00000375068.1:c.1323C>A	X.37:g.54841145C>A	ENSP00000364209:p.Phe441Leu					MAGED2_ENST00000375058.1_Missense_Mutation_p.F441L|MAGED2_ENST00000375060.1_Missense_Mutation_p.F356L|MAGED2_ENST00000375053.2_Missense_Mutation_p.F441L|MAGED2_ENST00000375062.4_Missense_Mutation_p.F356L|MAGED2_ENST00000218439.4_Missense_Mutation_p.F441L|MAGED2_ENST00000396224.1_Missense_Mutation_p.F441L|MAGED2_ENST00000347546.3_Missense_Mutation_p.F385L|MAGED2_ENST00000343474.6_Missense_Mutation_p.F423L	p.F441L			Q9UNF1	MAGD2_HUMAN			11	1556	+			441			MAGE.		A6NMX0|O76058|Q5BJF3|Q8NAL6|Q9H218|Q9P0U9|Q9UM52	Missense_Mutation	SNP	ENST00000375068.1	37	c.1323C>A	CCDS14362.1	.	.	.	.	.	.	.	.	.	.	C	17.59	3.426527	0.62733	.	.	ENSG00000102316	ENST00000375068;ENST00000375053;ENST00000347546;ENST00000343474;ENST00000375062;ENST00000218439;ENST00000375058;ENST00000375060;ENST00000396224	T;T;T;T;T;T;T;T;T	0.05649	3.41;3.41;3.41;3.41;3.41;3.41;3.41;3.41;3.41	4.32	3.45	0.39498	.	0.000000	0.45606	D	0.000360	T	0.20333	0.0489	M	0.76727	2.345	0.44995	D	0.998018	P;B	0.44946	0.846;0.384	P;B	0.59761	0.863;0.429	T	0.00263	-1.1866	10	0.87932	D	0	.	11.0057	0.47633	0.0:0.8999:0.0:0.1001	.	356;441	Q5H907;Q9UNF1	.;MAGD2_HUMAN	L	441;441;385;423;356;441;441;356;441	ENSP00000364209:F441L;ENSP00000364193:F441L;ENSP00000336962:F385L;ENSP00000340290:F423L;ENSP00000364202:F356L;ENSP00000218439:F441L;ENSP00000364198:F441L;ENSP00000364200:F356L;ENSP00000379526:F441L	ENSP00000218439:F441L	F	+	3	2	MAGED2	54857870	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	1.007000	0.29860	0.913000	0.36797	0.513000	0.50165	TTC		0.478	MAGED2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000056821.2	NM_014599		21	14	1	0	9.95505e-16	1	1.16205e-15	21	14				
PCNXL2	80003	broad.mit.edu	37	1	233313604	233313604	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:233313604G>C	ENST00000258229.9	-	17	3451	c.3217C>G	c.(3217-3219)Caa>Gaa	p.Q1073E	PCNXL2_ENST00000488780.2_Missense_Mutation_p.Q206E	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN	pecanex-like 2 (Drosophila)	1073						integral component of membrane (GO:0016021)				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86		all_cancers(173;0.0347)|Prostate(94;0.137)				GCCAGATTTTGATGTAAAAAT	0.433																																						ENST00000258229.8																			0				NS(1)|autonomic_ganglia(1)|breast(4)|central_nervous_system(1)|cervix(1)|endometrium(16)|kidney(7)|large_intestine(19)|lung(30)|pancreas(1)|skin(1)|upper_aerodigestive_tract(3)|urinary_tract(1)	86						c.(3217-3219)Caa>Gaa		pecanex-like 2 (Drosophila)							65.0	63.0	63.0					1																	233313604		1876	4111	5987	SO:0001583	missense	80003					integral to membrane		g.chr1:233313604G>C	AK055374	CCDS44335.1	1q42.2	2008-02-05	2001-11-28		ENSG00000135749	ENSG00000135749			8736	protein-coding gene	gene with protein product			"""pecanex (Drosophila)-like 2"""			12477932	Standard	NM_014801		Approved	KIAA0435, FLJ11383	uc001hvl.2	A6NKB5	OTTHUMG00000037824	ENST00000258229.9:c.3217C>G	1.37:g.233313604G>C	ENSP00000258229:p.Gln1073Glu					PCNXL2_ENST00000488780.2_Missense_Mutation_p.Q206E	p.Q1073E	NM_014801.3	NP_055616.3	A6NKB5	PCX2_HUMAN			17	3451	-		all_cancers(173;0.0347)|Prostate(94;0.137)	1073					O43162|Q5T9Z8|Q5TDF1|Q8TEP4|Q96HP9|Q9HAL8	Missense_Mutation	SNP	ENST00000258229.9	37	c.3217C>G	CCDS44335.1	.	.	.	.	.	.	.	.	.	.	G	0.092	-1.165621	0.01673	.	.	ENSG00000135749	ENST00000258229;ENST00000488780	T	0.07908	3.15	5.25	2.2	0.27929	.	.	.	.	.	T	0.07098	0.0180	L	0.42245	1.32	0.09310	N	1	B	0.11235	0.004	B	0.10450	0.005	T	0.40534	-0.9558	9	0.23302	T	0.38	.	5.1573	0.15042	0.0811:0.1421:0.6301:0.1467	.	1073	A6NKB5	PCX2_HUMAN	E	1073;206	ENSP00000258229:Q1073E	ENSP00000258229:Q1073E	Q	-	1	0	PCNXL2	231380227	0.163000	0.22920	0.221000	0.23827	0.436000	0.31835	0.211000	0.17474	0.551000	0.29008	0.467000	0.42956	CAA		0.433	PCNXL2-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000092480.3	NM_014801		23	34	0	0	0	1	0	23	34				
RELB	5971	broad.mit.edu	37	19	45537531	45537531	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:45537531C>T	ENST00000221452.8	+	10	1387	c.1237C>T	c.(1237-1239)Cgg>Tgg	p.R413W	RELB_ENST00000540120.1_Missense_Mutation_p.R413W|RELB_ENST00000505236.1_Missense_Mutation_p.R410W	NM_006509.3	NP_006500.2	Q01201	RELB_HUMAN	v-rel avian reticuloendotheliosis viral oncogene homolog B	413	RHD. {ECO:0000255|PROSITE- ProRule:PRU00265}.				antigen processing and presentation (GO:0019882)|circadian regulation of gene expression (GO:0032922)|myeloid dendritic cell differentiation (GO:0043011)|NIK/NF-kappaB signaling (GO:0038061)|positive regulation of gene expression (GO:0010628)|T-helper 1 cell differentiation (GO:0045063)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|nucleus (GO:0005634)	core promoter binding (GO:0001047)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12		Ovarian(192;0.0728)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00986)		GAAGCGGAAACGGGGGATGCC	0.512																																						ENST00000221452.8																			0				breast(1)|endometrium(1)|kidney(2)|large_intestine(1)|lung(3)|ovary(3)|skin(1)	12						c.(1237-1239)Cgg>Tgg		v-rel avian reticuloendotheliosis viral oncogene homolog B							53.0	56.0	55.0					19																	45537531		1957	4145	6102	SO:0001583	missense	5971					nucleus	protein binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity	g.chr19:45537531C>T	M83221	CCDS46110.1	19q13.32	2013-07-09	2013-07-09		ENSG00000104856	ENSG00000104856			9956	protein-coding gene	gene with protein product		604758	"""v-rel avian reticuloendotheliosis viral oncogene homolog B (nuclear factor of kappa light polypeptide gene enhancer in B-cells 3)"""			1531086	Standard	NM_006509		Approved	REL-B	uc021uvp.1	Q01201	OTTHUMG00000162116	ENST00000221452.8:c.1237C>T	19.37:g.45537531C>T	ENSP00000221452:p.Arg413Trp					RELB_ENST00000505236.1_Missense_Mutation_p.R410W|RELB_ENST00000540120.1_Missense_Mutation_p.R413W	p.R413W	NM_006509.3	NP_006500.2	Q01201	RELB_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00986)	10	1387	+		Ovarian(192;0.0728)|all_neural(266;0.112)	413			RHD.		Q6GTX7|Q9UEI7	Missense_Mutation	SNP	ENST00000221452.8	37	c.1237C>T	CCDS46110.1	.	.	.	.	.	.	.	.	.	.	C	22.5	4.301587	0.81136	.	.	ENSG00000104856	ENST00000221452;ENST00000540120;ENST00000505236	T;T;T	0.59638	0.25;0.25;0.25	4.82	4.82	0.62117	.	0.201323	0.29537	N	0.011863	T	0.67785	0.2930	M	0.75447	2.3	0.49483	D	0.999798	D	0.89917	1.0	P	0.53146	0.719	T	0.73069	-0.4099	10	0.87932	D	0	-0.6031	13.2639	0.60122	0.0:1.0:0.0:0.0	.	410	D6R992	.	W	413;413;410	ENSP00000221452:R413W;ENSP00000445542:R413W;ENSP00000423287:R410W	ENSP00000221452:R413W	R	+	1	2	RELB	50229371	1.000000	0.71417	1.000000	0.80357	0.996000	0.88848	3.810000	0.55613	2.501000	0.84356	0.563000	0.77884	CGG		0.512	RELB-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000367361.2			27	44	0	0	0	1	0	27	44				
MPV17	4358	broad.mit.edu	37	2	27534804	27534804	+	Nonsense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:27534804G>A	ENST00000380044.1	-	7	479	c.424C>T	c.(424-426)Cag>Tag	p.Q142*	MPV17_ENST00000402722.1_Intron|MPV17_ENST00000405983.1_Nonsense_Mutation_p.Q157*|MPV17_ENST00000405076.1_Nonsense_Mutation_p.Q79*|MPV17_ENST00000402310.1_Intron|MPV17_ENST00000357186.6_Nonsense_Mutation_p.Q86*|MPV17_ENST00000403262.2_Nonsense_Mutation_p.Q142*|MPV17_ENST00000233545.2_Nonsense_Mutation_p.Q142*	NM_002437.4	NP_002428.1	P39210	MPV17_HUMAN	MpV17 mitochondrial inner membrane protein	142					cellular response to reactive oxygen species (GO:0034614)|glomerular basement membrane development (GO:0032836)|homeostatic process (GO:0042592)|inner ear development (GO:0048839)|mitochondrial genome maintenance (GO:0000002)|reactive oxygen species metabolic process (GO:0072593)|regulation of reactive oxygen species metabolic process (GO:2000377)	integral component of membrane (GO:0016021)|mitochondrial inner membrane (GO:0005743)|mitochondrion (GO:0005739)|peroxisome (GO:0005777)				lung(4)	4	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					TTGGCTAACTGCACAGCAGGC	0.532																																						ENST00000357186.6																			0				lung(4)	4						c.(256-258)Cag>Tag		MpV17 mitochondrial inner membrane protein							92.0	99.0	96.0					2																	27534804		2203	4300	6503	SO:0001587	stop_gained	4358				cellular response to reactive oxygen species|glomerular basement membrane development|homeostatic process|inner ear development|mitochondrial genome maintenance|regulation of reactive oxygen species metabolic process	integral to peroxisomal membrane|mitochondrial inner membrane		g.chr2:27534804G>A		CCDS1748.1	2p23.3	2008-02-05	2006-05-12		ENSG00000115204	ENSG00000115204			7224	protein-coding gene	gene with protein product	"""glomerulosclerosis"""	137960	"""MpV17 transgene, murine homolog, glomerulosclerosis"""			8281143, 16582910	Standard	XM_005264326		Approved	SYM1	uc002rjs.3	P39210	OTTHUMG00000097074	ENST00000380044.1:c.424C>T	2.37:g.27534804G>A	ENSP00000369383:p.Gln142*					MPV17_ENST00000402310.1_Intron|MPV17_ENST00000233545.2_Nonsense_Mutation_p.Q142*|MPV17_ENST00000380044.1_Nonsense_Mutation_p.Q142*|MPV17_ENST00000405076.1_Nonsense_Mutation_p.Q79*|MPV17_ENST00000405983.1_Nonsense_Mutation_p.Q157*|MPV17_ENST00000402722.1_Intron|MPV17_ENST00000403262.2_Nonsense_Mutation_p.Q142*	p.Q86*			P39210	MPV17_HUMAN			5	1485	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		142					D6W555|Q53SY2|Q96B08	Nonsense_Mutation	SNP	ENST00000380044.1	37	c.256C>T	CCDS1748.1	.	.	.	.	.	.	.	.	.	.	G	15.81	2.944116	0.53079	.	.	ENSG00000115204	ENST00000233545;ENST00000380044;ENST00000357186;ENST00000405983;ENST00000405076;ENST00000403262	.	.	.	4.68	4.68	0.58851	.	0.000000	0.85682	D	0.000000	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	13.1054	0.59244	0.0:0.0:1.0:0.0	.	.	.	.	X	142;142;86;157;79;142	.	ENSP00000233545:Q142X	Q	-	1	0	MPV17	27388308	1.000000	0.71417	1.000000	0.80357	0.991000	0.79684	6.671000	0.74472	2.153000	0.67306	0.561000	0.74099	CAG		0.532	MPV17-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214193.1	NM_002437		10	34	0	0	0	1	0	10	34				
LIMK2	3985	broad.mit.edu	37	22	31673039	31673039	+	Intron	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr22:31673039C>T	ENST00000331728.4	+	16	1886				LIMK2_ENST00000406516.1_Silent_p.D601D|LIMK2_ENST00000340552.4_Silent_p.D658D|LIMK2_ENST00000444929.2_Intron|LIMK2_ENST00000467301.1_Intron|LIMK2_ENST00000333611.4_Intron	NM_005569.3	NP_005560.1	P53671	LIMK2_HUMAN	LIM domain kinase 2						phosphorylation (GO:0016310)|spermatogenesis (GO:0007283)	cis-Golgi network (GO:0005801)|cytoplasm (GO:0005737)|nucleus (GO:0005634)	ATP binding (GO:0005524)|protein serine/threonine kinase activity (GO:0004674)|zinc ion binding (GO:0008270)			endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						TGCTGGTTGACTGTTACAAAC	0.567																																						ENST00000340552.4																			0				endometrium(7)|kidney(3)|large_intestine(6)|lung(6)|ovary(2)|prostate(4)|skin(1)	29						c.(1972-1974)gaC>gaT		LIM domain kinase 2							87.0	74.0	79.0					22																	31673039		2203	4300	6503	SO:0001627	intron_variant	3985					mitochondrion|nucleus	ATP binding|protein serine/threonine kinase activity|zinc ion binding	g.chr22:31673039C>T	D45906	CCDS13891.1, CCDS13892.1, CCDS33637.1	22q12	2005-01-21			ENSG00000182541	ENSG00000182541			6614	protein-coding gene	gene with protein product		601988				8537403, 10591208	Standard	NM_005569		Approved		uc003akh.3	P53671	OTTHUMG00000151251	ENST00000331728.4:c.1773-1244C>T	22.37:g.31673039C>T						LIMK2_ENST00000406516.1_Silent_p.D601D|LIMK2_ENST00000333611.4_Intron|LIMK2_ENST00000444929.2_Intron|LIMK2_ENST00000331728.4_Intron|LIMK2_ENST00000467301.1_Intron	p.D658D	NM_001031801.1	NP_001026971.1	P53671	LIMK2_HUMAN			15	2204	+			0					A8K6H5|Q7KZ80|Q7L3H5|Q96E10|Q99464|Q9UFU0	Silent	SNP	ENST00000331728.4	37	c.1974C>T	CCDS13891.1																																																																																				0.567	LIMK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321911.1	NM_016733		23	59	0	0	0	1	0	23	59				
CDH11	1009	broad.mit.edu	37	16	64984670	64984670	+	Splice_Site	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr16:64984670C>A	ENST00000268603.4	-	12	2509	c.1894G>T	c.(1894-1896)Gtc>Ttc	p.V632F	CDH11_ENST00000566827.1_Splice_Site_p.V506F|CDH11_ENST00000394156.3_Splice_Site_p.G632C	NM_001797.2	NP_001788.2	P55287	CAD11_HUMAN	cadherin 11, type 2, OB-cadherin (osteoblast)	632					adherens junction organization (GO:0034332)|cell adhesion (GO:0007155)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|corticospinal tract morphogenesis (GO:0021957)|homophilic cell adhesion (GO:0007156)|ossification (GO:0001503)|skeletal system development (GO:0001501)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88		Ovarian(137;0.0973)		OV - Ovarian serous cystadenocarcinoma(108;0.205)		GCGCCCTTACCCAGGAGAATG	0.617			T	USP6	aneurysmal bone cysts					TSP Lung(24;0.17)																												ENST00000394156.3				Dom	yes		16	16q22.1	1009	T	"""cadherin 11, type 2, OB-cadherin (osteoblast)"""			M	USP6		aneurysmal bone cysts		0				NS(1)|breast(1)|central_nervous_system(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(5)|kidney(5)|large_intestine(19)|lung(40)|ovary(3)|prostate(3)|skin(2)|urinary_tract(2)	88						c.e12+1		cadherin 11, type 2, OB-cadherin (osteoblast)							43.0	36.0	38.0					16																	64984670		2203	4300	6503	SO:0001630	splice_region_variant	1009				adherens junction organization|cell junction assembly|homophilic cell adhesion|ossification|skeletal system development	integral to membrane|plasma membrane	calcium ion binding|protein binding	g.chr16:64984670C>A	D21255	CCDS10803.1	16q21	2010-01-26			ENSG00000140937	ENSG00000140937		"""Cadherins / Major cadherins"""	1750	protein-coding gene	gene with protein product	"""OB-Cadherin"""	600023				9615235	Standard	NM_001797		Approved	OB, CAD11	uc002eoi.3	P55287	OTTHUMG00000137494	ENST00000268603.4:c.1894+1G>T	16.37:g.64984670C>A		TSP Lung(24;0.17)				CDH11_ENST00000566827.1_Splice_Site_p.V506_splice|CDH11_ENST00000268603.4_Splice_Site_p.V632_splice	p.G632_splice			P55287	CAD11_HUMAN		OV - Ovarian serous cystadenocarcinoma(108;0.205)	12	2347	-		Ovarian(137;0.0973)	0					A8K5D6|A8MZC8|B7WP28|Q15065|Q15066|Q9UQ93|Q9UQ94	Splice_Site	SNP	ENST00000268603.4	37	c.1894_splice	CCDS10803.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	18.04|18.04	3.534590|3.534590	0.64972|0.64972	.|.	.|.	ENSG00000140937|ENSG00000140937	ENST00000394156|ENST00000268603;ENST00000538390	T|T	0.55588|0.60424	0.51|0.19	5.81|5.81	5.81|5.81	0.92471|0.92471	.|.	.|0.104592	.|0.64402	.|D	.|0.000004	T|T	0.79263|0.79263	0.4416|0.4416	M|M	0.90759|0.90759	3.145|3.145	0.58432|0.58432	D|D	0.999999|0.999999	B|D	0.31705|0.60575	0.336|0.988	B|P	0.20184|0.59825	0.028|0.864	T|T	0.82412|0.82412	-0.0470|-0.0470	8|9	.|.	.|.	.|.	.|.	19.0707|19.0707	0.93134|0.93134	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	632|632	P55287-2|P55287	.|CAD11_HUMAN	C|F	632|632;615	ENSP00000377711:G632C|ENSP00000268603:V632F	.|.	G|V	-|-	1|1	0|0	CDH11|CDH11	63542171|63542171	0.999000|0.999000	0.42202|0.42202	1.000000|1.000000	0.80357|0.80357	0.870000|0.870000	0.49936|0.49936	4.075000|4.075000	0.57584|0.57584	2.746000|2.746000	0.94184|0.94184	0.655000|0.655000	0.94253|0.94253	GGT|GTC		0.617	CDH11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268755.1	NM_033664	Missense_Mutation	14	35	1	0	2.31682e-05	1	2.41516e-05	14	35				
PRRT1	80863	broad.mit.edu	37	6	32117130	32117130	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr6:32117130C>T	ENST00000211413.5	-	4	914	c.790G>A	c.(790-792)Gct>Act	p.A264T	PRRT1_ENST00000375152.2_Missense_Mutation_p.A183T|PRRT1_ENST00000467780.1_5'UTR|PRRT1_ENST00000375150.2_Missense_Mutation_p.A183T	NM_030651.3	NP_085154.3	Q99946	PRRT1_HUMAN	proline-rich transmembrane protein 1	264					response to biotic stimulus (GO:0009607)	cell junction (GO:0030054)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|synapse (GO:0045202)		p.A264T(1)		breast(2)|endometrium(1)|kidney(1)|lung(2)	6						TCGCGTGAAGCGATCTCGGCC	0.652																																						ENST00000211413.5																			1	Substitution - Missense(1)	p.A264T(1)	kidney(1)	breast(2)|endometrium(1)|kidney(1)|lung(2)	6						c.(790-792)Gct>Act		proline-rich transmembrane protein 1							33.0	29.0	30.0					6																	32117130		1507	2707	4214	SO:0001583	missense	80863				response to biotic stimulus	integral to membrane		g.chr6:32117130C>T	AK054885	CCDS4739.1	6p21.32	2011-10-10	2005-07-24	2005-07-24		ENSG00000204314		"""Proline-rich transmembrane proteins"""	13943	protein-coding gene	gene with protein product	"""interferon induced transmembrane protein domain containing 7"""		"""chromosome 6 open reading frame 31"""	C6orf31			Standard	XM_006715221		Approved	NG5, IFITMD7	uc003nzt.3	Q99946		ENST00000211413.5:c.790G>A	6.37:g.32117130C>T	ENSP00000211413:p.Ala264Thr					PRRT1_ENST00000375150.2_Missense_Mutation_p.A183T|PRRT1_ENST00000375152.2_Missense_Mutation_p.A183T|PRRT1_ENST00000467780.1_5'UTR	p.A264T	NM_030651.3	NP_085154.3	Q99946	PRRT1_HUMAN			4	914	-			264					A6ND08|A6ND40|B0S869|Q5SSW4|Q5SSX7|Q5STI1|Q96DW3|Q96NQ8	Missense_Mutation	SNP	ENST00000211413.5	37	c.790G>A	CCDS4739.1	.	.	.	.	.	.	.	.	.	.	c	35	5.507660	0.96386	.	.	ENSG00000204314	ENST00000211413;ENST00000375150;ENST00000375152	D;D;D	0.87729	-2.29;-2.29;-2.29	4.99	4.99	0.66335	.	.	.	.	.	D	0.91297	0.7256	M	0.72479	2.2	0.54753	D	0.999987	D;D	0.76494	0.999;0.967	D;P	0.80764	0.994;0.801	D	0.91328	0.5087	9	0.49607	T	0.09	-5.5816	15.7852	0.78297	0.0:1.0:0.0:0.0	.	264;183	Q99946;Q99946-2	PRRT1_HUMAN;.	T	264;183;183	ENSP00000211413:A264T;ENSP00000364292:A183T;ENSP00000364294:A183T	ENSP00000211413:A264T	A	-	1	0	PRRT1	32225108	1.000000	0.71417	0.998000	0.56505	0.964000	0.63967	6.713000	0.74686	2.332000	0.79248	0.645000	0.84053	GCT		0.652	PRRT1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076255.2	NM_030651		6	14	0	0	0	1	0	6	14				
TLE4	7091	broad.mit.edu	37	9	82337412	82337412	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr9:82337412G>T	ENST00000376552.2	+	18	3051	c.2033G>T	c.(2032-2034)gGg>gTg	p.G678V	TLE4_ENST00000376544.3_Missense_Mutation_p.G609V|TLE4_ENST00000376537.4_Missense_Mutation_p.G710V|TLE4_ENST00000376534.4_Missense_Mutation_p.G315V|TLE4_ENST00000265284.6_Missense_Mutation_p.G653V|TLE4_ENST00000376520.4_Missense_Mutation_p.G710V	NM_007005.3	NP_008936.2	Q04727	TLE4_HUMAN	transducin-like enhancer of split 4	678					negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|Notch signaling pathway (GO:0007219)|Wnt signaling pathway (GO:0016055)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II distal enhancer sequence-specific DNA binding transcription factor activity (GO:0003705)|transcription corepressor activity (GO:0003714)			breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						CTTGCAGTGGGGATGGAGAAC	0.478																																						ENST00000376520.4																			0				breast(2)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(10)|lung(12)|ovary(1)|prostate(2)|skin(2)|upper_aerodigestive_tract(1)	39						c.(2128-2130)gGg>gTg		transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)							101.0	99.0	100.0					9																	82337412		2016	4217	6233	SO:0001583	missense	7091							g.chr9:82337412G>T	M99439	CCDS43837.1, CCDS65069.1, CCDS65070.1, CCDS75851.1	9q21.32	2014-03-07	2014-03-07		ENSG00000106829	ENSG00000106829		"""WD repeat domain containing"""	11840	protein-coding gene	gene with protein product		605132	"""transducin-like enhancer of split 4, homolog of Drosophila E(sp1)"", ""transducin-like enhancer of split 4 (E(sp1) homolog, Drosophila)"""			8365415	Standard	XM_005252167		Approved	E(spI), ESG, GRG4	uc004alc.3	Q04727	OTTHUMG00000020072	ENST00000376552.2:c.2033G>T	9.37:g.82337412G>T	ENSP00000365735:p.Gly678Val					TLE4_ENST00000376544.3_Missense_Mutation_p.G609V|TLE4_ENST00000376552.2_Missense_Mutation_p.G678V|TLE4_ENST00000376534.4_Missense_Mutation_p.G315V|TLE4_ENST00000265284.6_Missense_Mutation_p.G653V|TLE4_ENST00000376537.4_Missense_Mutation_p.G710V	p.G710V			O60756	BCE1_HUMAN			19	2957	+			0					F8W6T6|Q3ZCS1|Q5T1Y2|Q6PCB3|Q9BZ07|Q9BZ08|Q9BZ09|Q9NSL3|Q9ULF9	Missense_Mutation	SNP	ENST00000376552.2	37	c.2129G>T	CCDS43837.1	.	.	.	.	.	.	.	.	.	.	G	26.6	4.752509	0.89753	.	.	ENSG00000106829	ENST00000376552;ENST00000376544;ENST00000376520;ENST00000376537;ENST00000376534;ENST00000265284	T;T;T;T;T;T	0.15256	2.44;2.44;2.44;2.44;2.44;2.44	6.03	5.13	0.70059	WD40/YVTN repeat-like-containing domain (1);WD40 repeat-like-containing domain (1);	0.047282	0.85682	D	0.000000	T	0.47154	0.1430	M	0.84683	2.71	0.80722	D	1	D;D;D;D	0.89917	1.0;1.0;1.0;1.0	D;D;D;D	0.97110	0.996;1.0;0.996;0.991	T	0.55630	-0.8111	10	0.87932	D	0	-17.5127	15.0523	0.71885	0.0674:0.0:0.9326:0.0	.	653;609;710;678	F8W6T6;Q04727-2;Q04727-3;Q04727	.;.;.;TLE4_HUMAN	V	678;609;710;710;315;653	ENSP00000365735:G678V;ENSP00000365727:G609V;ENSP00000365703:G710V;ENSP00000365720:G710V;ENSP00000365717:G315V;ENSP00000265284:G653V	ENSP00000265284:G653V	G	+	2	0	TLE4	81527232	1.000000	0.71417	1.000000	0.80357	0.995000	0.86356	9.869000	0.99810	1.562000	0.49601	0.655000	0.94253	GGG		0.478	TLE4-008	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052792.4	XM_212237		17	41	1	0	9.16793e-09	1	9.96302e-09	17	41				
C19orf12	83636	broad.mit.edu	37	19	30199207	30199207	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:30199207C>A	ENST00000392278.2	-	2	273	c.147G>T	c.(145-147)atG>atT	p.M49I	C19orf12_ENST00000592153.1_Missense_Mutation_p.M38I|C19orf12_ENST00000392275.1_Intron|C19orf12_ENST00000392276.1_Intron|C19orf12_ENST00000323670.9_Missense_Mutation_p.M38I	NM_001031726.3	NP_001026896.2	Q9NSK7	CS012_HUMAN	chromosome 19 open reading frame 12	49					cell death (GO:0008219)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|mitochondrion (GO:0005739)						Ovarian(5;0.000567)|Breast(6;0.0203)|Esophageal squamous(110;0.239)		UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0435)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.183)			CGACGAAGGCCATGGCCCCTG	0.612																																						ENST00000323670.9																			0											c.(112-114)atG>atT		chromosome 19 open reading frame 12							55.0	60.0	58.0					19																	30199207		1910	4106	6016	SO:0001583	missense	83636					integral to membrane		g.chr19:30199207C>A	AK057185	CCDS12418.2, CCDS42542.1, CCDS59373.1, CCDS74325.1	19q13.11	2013-07-24			ENSG00000131943	ENSG00000131943			25443	protein-coding gene	gene with protein product	"""neurodegeneration with brain iron accumulation 4"""	614297	"""spastic paraplegia 43 (autosomal recessive)"""	SPG43		21981780, 23857908	Standard	NM_031448		Approved	MGC10922, DKFZP762D096, NBIA4	uc002nsj.3	Q9NSK7	OTTHUMG00000149838	ENST00000392278.2:c.147G>T	19.37:g.30199207C>A	ENSP00000376103:p.Met49Ile					C19orf12_ENST00000392276.1_Intron|C19orf12_ENST00000392275.1_Intron|C19orf12_ENST00000392278.2_Missense_Mutation_p.M49I|C19orf12_ENST00000592153.1_Missense_Mutation_p.M38I	p.M38I	NM_001256047.1|NM_031448.4	NP_001242976.1|NP_113636.2	Q9NSK7	CS012_HUMAN	UCEC - Uterine corpus endometrioid carcinoma (4;2.65e-06)|STAD - Stomach adenocarcinoma(5;1.7e-06)|Lung(7;0.0435)|LUAD - Lung adenocarcinoma(5;0.0989)|BRCA - Breast invasive adenocarcinoma(6;0.183)		2	253	-	Ovarian(5;0.000567)|Breast(6;0.0203)|Esophageal squamous(110;0.239)		38					B3KQ16|Q0D2Q0|Q6P4C5|Q9BSL7	Missense_Mutation	SNP	ENST00000392278.2	37	c.114G>T	CCDS42542.1	.	.	.	.	.	.	.	.	.	.	C	4.721	0.134069	0.09032	.	.	ENSG00000131943	ENST00000323670;ENST00000392278;ENST00000342680	T;T;T	0.80653	-1.4;-1.4;-1.4	6.08	1.33	0.21861	.	0.806166	0.11556	N	0.552301	T	0.64338	0.2589	N	0.22421	0.69	0.09310	N	1	B;B	0.02656	0.0;0.0	B;B	0.04013	0.001;0.0	T	0.51044	-0.8755	10	0.37606	T	0.19	-28.6279	4.4719	0.11717	0.1154:0.4179:0.3364:0.1303	.	38;49	Q9NSK7;Q9NSK7-4	CS012_HUMAN;.	I	38;49;38	ENSP00000313332:M38I;ENSP00000376103:M49I;ENSP00000345497:M38I	ENSP00000313332:M38I	M	-	3	0	C19orf12	34891047	0.000000	0.05858	0.566000	0.28421	0.002000	0.02628	-0.470000	0.06639	0.445000	0.26639	-0.921000	0.02739	ATG		0.612	C19orf12-003	KNOWN	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000313509.2	NM_031448		29	66	1	0	7.38237e-10	1	8.13783e-10	29	66				
CCT6P1	643253	broad.mit.edu	37	7	65226641	65226641	+	RNA	SNP	G	G	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:65226641G>T	ENST00000442266.1	+	0	1167				SNORA15_ENST00000384058.1_RNA					chaperonin containing TCP1, subunit 6 (zeta) pseudogene 1																		AGGTTCTTGCGCAGAATTCTG	0.383																																						ENST00000442266.1																			0																																																			643253							g.chr7:65226641G>T	BC052238, BC073761		7q11.21	2010-06-29	2008-09-22	2008-09-22	ENSG00000228409	ENSG00000228409			33094	pseudogene	pseudogene			"""chaperonin containing TCP1, subunit 6A (zeta 1) pseudogene 1"""	CCT6AP1			Standard	NR_003110		Approved		uc003tug.3		OTTHUMG00000156733		7.37:g.65226641G>T														0	1167	+									RNA	SNP	ENST00000442266.1	37																																																																																						0.383	CCT6P1-003	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000345507.1	NR_003110		3	21	1	0	0.115264	1	0.11602	3	21				
FCGRT	2217	broad.mit.edu	37	19	50029365	50029365	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:50029365G>A	ENST00000221466.5	+	7	1573	c.1087G>A	c.(1087-1089)Gcc>Acc	p.A363T	FCGRT_ENST00000596975.1_Missense_Mutation_p.A271T|FCGRT_ENST00000426395.3_Missense_Mutation_p.A363T|RCN3_ENST00000270645.3_5'Flank|FCGRT_ENST00000599988.1_Missense_Mutation_p.A97T	NM_001136019.2	NP_001129491.1	P55899	FCGRN_HUMAN	Fc fragment of IgG, receptor, transporter, alpha	363					antigen processing and presentation (GO:0019882)|IgG immunoglobulin transcytosis in epithelial cells mediated by FcRn immunoglobulin receptor (GO:0002416)|immune response (GO:0006955)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	IgG binding (GO:0019864)			endometrium(3)|kidney(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	9		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)		OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156)		TGTGATTCCAGCCACCGCCTG	0.582																																						ENST00000221466.5																			0				endometrium(3)|kidney(2)|lung(1)|ovary(1)|prostate(1)|skin(1)	9						c.(1087-1089)Gcc>Acc		Fc fragment of IgG, receptor, transporter, alpha							93.0	91.0	92.0					19																	50029365		2203	4300	6503	SO:0001583	missense	2217				antigen processing and presentation|female pregnancy|immune response	integral to membrane|MHC class I protein complex	IgG binding|receptor activity	g.chr19:50029365G>A	U12255	CCDS12770.1	19q13.3	2013-01-11				ENSG00000104870		"""Immunoglobulin superfamily / C1-set domain containing"""	3621	protein-coding gene	gene with protein product		601437				7964511, 8646894	Standard	NM_001136019		Approved	FCRN, alpha-chain	uc002pog.2	P55899		ENST00000221466.5:c.1087G>A	19.37:g.50029365G>A	ENSP00000221466:p.Ala363Thr					FCGRT_ENST00000596975.1_Missense_Mutation_p.A271T|FCGRT_ENST00000599988.1_Missense_Mutation_p.A97T|FCGRT_ENST00000426395.3_Missense_Mutation_p.A363T	p.A363T	NM_001136019.2	NP_001129491.1	P55899	FCGRN_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00291)|GBM - Glioblastoma multiforme(134;0.0156)	7	1573	+		all_lung(116;7.84e-06)|Lung NSC(112;2.8e-05)|all_neural(266;0.0966)|Ovarian(192;0.231)	363					Q5HYM5|Q9HBV7|Q9NZ19	Missense_Mutation	SNP	ENST00000221466.5	37	c.1087G>A	CCDS12770.1	.	.	.	.	.	.	.	.	.	.	G	16.63	3.177189	0.57692	.	.	ENSG00000104870	ENST00000221466;ENST00000426395	T;T	0.00808	5.67;5.67	3.96	2.93	0.34026	.	.	.	.	.	T	0.01061	0.0035	L	0.40543	1.245	0.18873	N	0.999987	P	0.37781	0.608	B	0.34180	0.177	T	0.50980	-0.8763	9	0.87932	D	0	.	7.9613	0.30072	0.1097:0.0:0.8903:0.0	.	363	P55899	FCGRN_HUMAN	T	363	ENSP00000221466:A363T;ENSP00000410798:A363T	ENSP00000221466:A363T	A	+	1	0	FCGRT	54721177	0.001000	0.12720	0.004000	0.12327	0.033000	0.12548	0.986000	0.29590	1.274000	0.44362	-0.219000	0.12488	GCC		0.582	FCGRT-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465267.1			46	106	0	0	0	1	0	46	106				
PLEC	5339	broad.mit.edu	37	8	144997785	144997785	+	Silent	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr8:144997785C>T	ENST00000322810.4	-	31	6892	c.6723G>A	c.(6721-6723)gcG>gcA	p.A2241A	PLEC_ENST00000345136.3_Silent_p.A2104A|PLEC_ENST00000356346.3_Silent_p.A2090A|PLEC_ENST00000354958.2_Silent_p.A2082A|PLEC_ENST00000398774.2_Silent_p.A2072A|PLEC_ENST00000436759.2_Silent_p.A2131A|PLEC_ENST00000354589.3_Silent_p.A2104A|PLEC_ENST00000357649.2_Silent_p.A2108A|PLEC_ENST00000527096.1_Silent_p.A2127A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN	plectin	2241	Central fibrous rod domain.				apoptotic process (GO:0006915)|cell junction assembly (GO:0034329)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|extracellular matrix organization (GO:0030198)|hemidesmosome assembly (GO:0031581)	costamere (GO:0043034)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|focal adhesion (GO:0005925)|hemidesmosome (GO:0030056)|intermediate filament cytoskeleton (GO:0045111)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|sarcoplasm (GO:0016528)	ankyrin binding (GO:0030506)|poly(A) RNA binding (GO:0044822)|structural constituent of muscle (GO:0008307)			NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						GGGACTGCGCCGCCTCACGCT	0.756																																						ENST00000322810.4																			0				NS(1)|breast(3)|central_nervous_system(4)|cervix(7)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(9)|large_intestine(8)|lung(57)|ovary(4)|pancreas(2)|prostate(11)|skin(9)|stomach(2)|upper_aerodigestive_tract(10)	137						c.(6721-6723)gcG>gcA		plectin							5.0	7.0	6.0					8																	144997785		1791	3855	5646	SO:0001819	synonymous_variant	5339				cellular component disassembly involved in apoptosis|hemidesmosome assembly	cytosol|focal adhesion|hemidesmosome|intermediate filament cytoskeleton|sarcolemma	actin binding|structural constituent of muscle	g.chr8:144997785C>T	U53204	CCDS43769.1, CCDS43770.1, CCDS43771.1, CCDS43772.1, CCDS43773.1, CCDS43774.1, CCDS43775.1, CCDS47936.1	8q24	2010-02-04	2010-02-04	2010-02-04	ENSG00000178209	ENSG00000178209			9069	protein-coding gene	gene with protein product		601282	"""plectin 1, intermediate filament binding protein, 500kD"", ""epidermolysis bullosa simplex 1 (Ogna)"", ""plectin 1, intermediate filament binding protein 500kDa"""	EBS1, PLEC1		8633055, 8696340	Standard	XM_005250976		Approved	PCN, PLTN	uc003zaf.1	Q15149	OTTHUMG00000165291	ENST00000322810.4:c.6723G>A	8.37:g.144997785C>T						PLEC_ENST00000356346.3_Silent_p.A2090A|PLEC_ENST00000398774.2_Silent_p.A2072A|PLEC_ENST00000436759.2_Silent_p.A2131A|PLEC_ENST00000527096.1_Silent_p.A2127A|PLEC_ENST00000354589.3_Silent_p.A2104A|PLEC_ENST00000345136.3_Silent_p.A2104A|PLEC_ENST00000357649.2_Silent_p.A2108A|PLEC_ENST00000354958.2_Silent_p.A2082A	p.A2241A	NM_201380.2	NP_958782.1	Q15149	PLEC_HUMAN			31	6892	-			2241			Central fibrous rod domain.		Q15148|Q16640|Q6S376|Q6S377|Q6S378|Q6S379|Q6S380|Q6S381|Q6S382|Q6S383	Silent	SNP	ENST00000322810.4	37	c.6723G>A	CCDS43772.1																																																																																				0.756	PLEC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000383281.1	NM_000445		14	12	0	0	0	1	0	14	12				
PTCH1	5727	broad.mit.edu	37	9	98232133	98232133	+	Silent	SNP	G	G	A	rs145690756	byFrequency	TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr9:98232133G>A	ENST00000331920.6	-	13	2108	c.1809C>T	c.(1807-1809)cgC>cgT	p.R603R	PTCH1_ENST00000375274.2_Silent_p.R602R|PTCH1_ENST00000430669.2_Silent_p.R537R|PTCH1_ENST00000437951.1_Silent_p.R537R|PTCH1_ENST00000421141.1_Silent_p.R452R|PTCH1_ENST00000418258.1_Silent_p.R452R|PTCH1_ENST00000429896.2_Silent_p.R452R	NM_000264.3	NP_000255.2	Q13635	PTC1_HUMAN	patched 1	603					brain development (GO:0007420)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation involved in kidney development (GO:0061005)|cell proliferation involved in metanephros development (GO:0072203)|cellular response to cholesterol (GO:0071397)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|embryonic organ development (GO:0048568)|epidermis development (GO:0008544)|glucose homeostasis (GO:0042593)|heart morphogenesis (GO:0003007)|hindlimb morphogenesis (GO:0035137)|in utero embryonic development (GO:0001701)|keratinocyte proliferation (GO:0043616)|limb morphogenesis (GO:0035108)|mammary gland duct morphogenesis (GO:0060603)|mammary gland epithelial cell differentiation (GO:0060644)|negative regulation of cell division (GO:0051782)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of smoothened signaling pathway (GO:0045879)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neural plate axis specification (GO:0021997)|neural tube closure (GO:0001843)|neural tube patterning (GO:0021532)|organ morphogenesis (GO:0009887)|pharyngeal system development (GO:0060037)|positive regulation of cholesterol efflux (GO:0010875)|protein processing (GO:0016485)|protein targeting to plasma membrane (GO:0072661)|regulation of mitotic cell cycle (GO:0007346)|regulation of protein localization (GO:0032880)|regulation of smoothened signaling pathway (GO:0008589)|renal system development (GO:0072001)|response to chlorate (GO:0010157)|response to drug (GO:0042493)|response to estradiol (GO:0032355)|response to mechanical stimulus (GO:0009612)|response to retinoic acid (GO:0032526)|smoothened signaling pathway (GO:0007224)|smoothened signaling pathway involved in dorsal/ventral neural tube patterning (GO:0060831)|somite development (GO:0061053)|spinal cord motor neuron differentiation (GO:0021522)	axonal growth cone (GO:0044295)|caveola (GO:0005901)|dendritic growth cone (GO:0044294)|integral component of membrane (GO:0016021)|intracellular membrane-bounded organelle (GO:0043231)|midbody (GO:0030496)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|primary cilium (GO:0072372)	cholesterol binding (GO:0015485)|cyclin binding (GO:0030332)|hedgehog family protein binding (GO:0097108)|hedgehog receptor activity (GO:0008158)|heparin binding (GO:0008201)|smoothened binding (GO:0005119)	p.R602R(2)|p.R603R(2)		NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)				TCCTGTCCTCGCGTCGATATA	0.438													G|||	3	0.000599042	0.0	0.0	5008	,	,		20000	0.003		0.0	False		,,,				2504	0.0					ENST00000430669.2																			4	Substitution - coding silent(4)	p.R602R(2)|p.R603R(2)	large_intestine(4)	NS(8)|bone(33)|breast(10)|central_nervous_system(95)|cervix(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(8)|kidney(2)|large_intestine(18)|lung(22)|meninges(1)|oesophagus(3)|ovary(6)|prostate(2)|skin(262)|upper_aerodigestive_tract(11)|urinary_tract(2)|vulva(1)	490						c.(1609-1611)cgC>cgT		patched 1		G	,,,,,,	2,4404	4.2+/-10.8	0,2,2201	148.0	143.0	145.0		1809,1611,1806,1356,1356,1356,1356	-10.4	0.9	9	dbSNP_134	145	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous,coding-synonymous	PTCH1	NM_000264.3,NM_001083602.1,NM_001083603.1,NM_001083604.1,NM_001083605.1,NM_001083606.1,NM_001083607.1	,,,,,,	0,3,6500	AA,AG,GG		0.0116,0.0454,0.0231	,,,,,,	603/1448,537/1382,602/1447,452/1297,452/1297,452/1297,452/1297	98232133	3,13003	2203	4300	6503	SO:0001819	synonymous_variant	5727				embryonic limb morphogenesis|negative regulation of multicellular organism growth|protein processing|regulation of smoothened signaling pathway|smoothened signaling pathway	integral to plasma membrane	hedgehog receptor activity	g.chr9:98232133G>A	AI494442	CCDS6714.1, CCDS43851.1, CCDS47995.1, CCDS47996.1	9q22.1-q31	2014-09-17	2010-06-24	2006-09-26	ENSG00000185920	ENSG00000185920			9585	protein-coding gene	gene with protein product		601309	"""patched (Drosophila) homolog"", ""patched homolog (Drosophila)"", ""patched homolog 1 (Drosophila)"""	NBCCS, PTCH		8658145	Standard	NM_001083603		Approved	BCNS	uc004avk.4	Q13635	OTTHUMG00000020280	ENST00000331920.6:c.1809C>T	9.37:g.98232133G>A						PTCH1_ENST00000437951.1_Silent_p.R537R|PTCH1_ENST00000429896.2_Silent_p.R452R|PTCH1_ENST00000331920.6_Silent_p.R603R|PTCH1_ENST00000375274.2_Silent_p.R602R|PTCH1_ENST00000421141.1_Silent_p.R452R|PTCH1_ENST00000418258.1_Silent_p.R452R	p.R537R			Q13635	PTC1_HUMAN			13	2196	-		Medulloblastoma(1;7.87e-06)|all_neural(1;0.000555)|Acute lymphoblastic leukemia(62;0.136)	603			SSD.		A3KBI9|E9PEJ8|Q13463|Q5R1U7|Q5R1U9|Q5R1V0|Q5VZC0|Q5VZC2|Q86XG7	Silent	SNP	ENST00000331920.6	37	c.1611C>T	CCDS6714.1																																																																																				0.438	PTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053229.2	NM_000264		54	105	0	0	0	1	0	54	105				
NXF3	56000	broad.mit.edu	37	X	102337234	102337234	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chrX:102337234G>A	ENST00000395065.3	-	9	940	c.839C>T	c.(838-840)gCg>gTg	p.A280V	NXF3_ENST00000425644.1_5'UTR|NXF3_ENST00000425463.2_Missense_Mutation_p.A191V	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN	nuclear RNA export factor 3	280					mRNA export from nucleus (GO:0006406)|poly(A)+ mRNA export from nucleus (GO:0016973)	cytoplasm (GO:0005737)|nuclear RNA export factor complex (GO:0042272)|nucleus (GO:0005634)	mRNA binding (GO:0003729)|nucleotide binding (GO:0000166)			NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						GCTTCTGTCCGCACACTTCTC	0.522																																						ENST00000395065.3																			0				NS(1)|central_nervous_system(1)|cervix(1)|kidney(1)|large_intestine(2)|lung(15)|ovary(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	26						c.(838-840)gCg>gTg		nuclear RNA export factor 3							442.0	296.0	346.0					X																	102337234		2203	4300	6503	SO:0001583	missense	56000					cytoplasm|nuclear RNA export factor complex	nucleocytoplasmic transporter activity|nucleotide binding|protein binding	g.chrX:102337234G>A	AJ277527	CCDS14503.1	Xq22	2008-02-05			ENSG00000147206	ENSG00000147206			8073	protein-coding gene	gene with protein product		300316				11073998	Standard	NM_022052		Approved		uc004eju.3	Q9H4D5	OTTHUMG00000022088	ENST00000395065.3:c.839C>T	X.37:g.102337234G>A	ENSP00000378504:p.Ala280Val					NXF3_ENST00000425644.1_5'UTR|NXF3_ENST00000425463.2_Missense_Mutation_p.A191V	p.A280V	NM_022052.1	NP_071335.1	Q9H4D5	NXF3_HUMAN			9	940	-			280					B4DYS7|Q5H9I1|Q9H1A9	Missense_Mutation	SNP	ENST00000395065.3	37	c.839C>T	CCDS14503.1	.	.	.	.	.	.	.	.	.	.	G	8.684	0.905814	0.17760	.	.	ENSG00000147206	ENST00000395065;ENST00000425463	T;T	0.44083	1.01;0.93	3.4	-3.14	0.05250	.	0.695266	0.14101	N	0.341370	T	0.19087	0.0458	N	0.16656	0.425	0.09310	N	1	B;P;B	0.39831	0.306;0.69;0.006	B;B;B	0.25614	0.046;0.062;0.005	T	0.04708	-1.0932	10	0.51188	T	0.08	0.2247	11.4731	0.50282	0.1884:0.0:0.8116:0.0	.	280;176;280	B4DYI1;E9PEY7;Q9H4D5	.;.;NXF3_HUMAN	V	280;191	ENSP00000378504:A280V;ENSP00000404347:A191V	ENSP00000378504:A280V	A	-	2	0	NXF3	102223890	0.000000	0.05858	0.000000	0.03702	0.001000	0.01503	0.234000	0.17930	-0.891000	0.03940	-1.327000	0.01280	GCG		0.522	NXF3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000057684.1	NM_022052		4	114	0	0	0	1	0	4	114				
KIF1B	23095	broad.mit.edu	37	1	10328246	10328246	+	Silent	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:10328246C>T	ENST00000377086.1	+	7	847	c.645C>T	c.(643-645)agC>agT	p.S215S	KIF1B_ENST00000377081.1_Silent_p.S215S|KIF1B_ENST00000377083.1_Silent_p.S215S|KIF1B_ENST00000377093.4_Silent_p.S215S|KIF1B_ENST00000263934.6_Silent_p.S215S			O60333	KIF1B_HUMAN	kinesin family member 1B	215	Kinesin motor. {ECO:0000255|PROSITE- ProRule:PRU00283}.				anterograde axon cargo transport (GO:0008089)|apoptotic process (GO:0006915)|cytoskeleton-dependent intracellular transport (GO:0030705)|microtubule-based movement (GO:0007018)|mitochondrion transport along microtubule (GO:0047497)|neuromuscular synaptic transmission (GO:0007274)|neuron-neuron synaptic transmission (GO:0007270)|vesicle-mediated transport (GO:0016192)	cytoplasmic vesicle (GO:0031410)|cytoplasmic vesicle membrane (GO:0030659)|kinesin complex (GO:0005871)|microtubule (GO:0005874)|microtubule associated complex (GO:0005875)|mitochondrion (GO:0005739)|neuron projection (GO:0043005)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|kinesin binding (GO:0019894)|microtubule motor activity (GO:0003777)|plus-end-directed microtubule motor activity (GO:0008574)			breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)		AAACAAGTAGCCGTTCCCACG	0.433																																						ENST00000377086.1																			0				breast(2)|endometrium(7)|kidney(8)|large_intestine(9)|lung(29)|ovary(3)|prostate(3)|skin(5)|stomach(3)|upper_aerodigestive_tract(2)	71						c.(643-645)agC>agT		kinesin family member 1B							99.0	82.0	87.0					1																	10328246		2203	4300	6503	SO:0001819	synonymous_variant	23095				anterograde axon cargo transport|apoptosis|neuromuscular synaptic transmission|neuron-neuron synaptic transmission	cytoplasmic vesicle membrane|microtubule|microtubule associated complex|mitochondrion	ATP binding|ATPase activity|kinesin binding|microtubule motor activity|protein binding	g.chr1:10328246C>T	AF257176	CCDS111.1, CCDS112.1	1p36.22	2014-09-17			ENSG00000054523	ENSG00000054523		"""Kinesins"", ""Pleckstrin homology (PH) domain containing"""	16636	protein-coding gene	gene with protein product		605995		CMT2A, CMT2		11389829, 10762626	Standard	NM_015074		Approved	KIAA0591, KLP, HMSNII	uc001aqw.4	O60333	OTTHUMG00000001817	ENST00000377086.1:c.645C>T	1.37:g.10328246C>T						KIF1B_ENST00000263934.6_Silent_p.S215S|KIF1B_ENST00000377081.1_Silent_p.S215S|KIF1B_ENST00000377093.4_Silent_p.S215S|KIF1B_ENST00000377083.1_Silent_p.S215S	p.S215S			O60333	KIF1B_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0259)|Colorectal(212;9.79e-07)|COAD - Colon adenocarcinoma(227;0.000143)|BRCA - Breast invasive adenocarcinoma(304;0.000413)|Kidney(185;0.00134)|KIRC - Kidney renal clear cell carcinoma(229;0.0037)|STAD - Stomach adenocarcinoma(132;0.0113)|READ - Rectum adenocarcinoma(331;0.0642)	7	847	+	Ovarian(185;0.203)	all_lung(284;1.31e-05)|Lung NSC(185;2.2e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00913)|Ovarian(437;0.0228)|Myeloproliferative disorder(586;0.0255)	215			Kinesin-motor.		A6NFS8|A6NKQ4|Q4VXC3|Q4VXC4|Q4VXC5|Q4VXC6|Q96Q94|Q9BV80|Q9P280	Silent	SNP	ENST00000377086.1	37	c.645C>T																																																																																					0.433	KIF1B-001	NOVEL	basic	protein_coding	protein_coding	OTTHUMT00000005102.1			10	16	0	0	0	1	0	10	16				
PIWIL4	143689	broad.mit.edu	37	11	94340739	94340739	+	Silent	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:94340739C>T	ENST00000299001.6	+	14	1984	c.1773C>T	c.(1771-1773)atC>atT	p.I591I	RP11-867G2.8_ENST00000536540.1_RNA|RP11-867G2.8_ENST00000537874.1_RNA	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN	piwi-like RNA-mediated gene silencing 4	591	Piwi. {ECO:0000255|PROSITE- ProRule:PRU00150}.				cell differentiation (GO:0030154)|DNA methylation involved in gamete generation (GO:0043046)|gene silencing by RNA (GO:0031047)|meiotic nuclear division (GO:0007126)|multicellular organismal development (GO:0007275)|piRNA metabolic process (GO:0034587)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|P granule (GO:0043186)|piP-body (GO:0071547)	piRNA binding (GO:0034584)			breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)				TGATGAGTATCGCCACCAAGA	0.448																																						ENST00000299001.6																			0				breast(1)|central_nervous_system(2)|cervix(1)|endometrium(2)|kidney(1)|large_intestine(9)|lung(10)|prostate(1)|skin(1)|urinary_tract(2)	30						c.(1771-1773)atC>atT		piwi-like RNA-mediated gene silencing 4							87.0	81.0	83.0					11																	94340739		2201	4298	6499	SO:0001819	synonymous_variant	143689				cell differentiation|DNA methylation involved in gamete generation|gene silencing by RNA|meiosis|multicellular organismal development|piRNA metabolic process|regulation of translation|spermatogenesis	nucleus|piP-body	piRNA binding	g.chr11:94340739C>T	AB079366	CCDS31656.1	11q12	2013-02-15	2013-02-15			ENSG00000134627		"""Argonaute/PIWI family"""	18444	protein-coding gene	gene with protein product		610315	"""piwi-like 4 (Drosophila)"""			12906857	Standard	NM_152431		Approved	FLJ36156, HIWI2, Miwi2	uc001pfa.3	Q7Z3Z4		ENST00000299001.6:c.1773C>T	11.37:g.94340739C>T						RP11-867G2.8_ENST00000537874.1_RNA|RP11-867G2.8_ENST00000536540.1_RNA	p.I591I	NM_152431.2	NP_689644.2	Q7Z3Z4	PIWL4_HUMAN			14	1984	+		Acute lymphoblastic leukemia(157;2.26e-05)|all_hematologic(158;0.0123)	591			Piwi.		B4DEG5|Q68CZ4|Q8N8G9|Q8N9V8|Q8NEH2	Silent	SNP	ENST00000299001.6	37	c.1773C>T	CCDS31656.1																																																																																				0.448	PIWIL4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396388.1	NM_152431		20	45	0	0	0	1	0	20	45				
OR11H12	440153	broad.mit.edu	37	14	19377681	19377681	+	Missense_Mutation	SNP	C	C	A	rs376617469		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr14:19377681C>A	ENST00000550708.1	+	1	160	c.88C>A	c.(88-90)Caa>Aaa	p.Q30K		NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	olfactory receptor, family 11, subfamily H, member 12	30						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22	all_cancers(95;0.00108)		Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)		ATTTATACTCCAAGGTTTCAC	0.413																																						ENST00000550708.1																			0				NS(2)|endometrium(1)|kidney(1)|large_intestine(1)|lung(13)|ovary(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(88-90)Caa>Aaa		olfactory receptor, family 11, subfamily H, member 12							50.0	52.0	52.0					14																	19377681		2199	4296	6495	SO:0001583	missense	440153				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr14:19377681C>A		CCDS32017.1	14q11.2	2013-01-25			ENSG00000257115	ENSG00000257115		"""GPCR / Class A : Olfactory receptors"""	30738	protein-coding gene	gene with protein product							Standard	NM_001013354		Approved		uc010tkp.2	B2RN74	OTTHUMG00000170298	ENST00000550708.1:c.88C>A	14.37:g.19377681C>A	ENSP00000449002:p.Gln30Lys						p.Q30K	NM_001013354.1|NM_001197287.1	NP_001013372.1|NP_001184216.1	B2RN74	O11HC_HUMAN	Epithelial(56;9.96e-07)|all cancers(55;2.95e-06)	GBM - Glioblastoma multiforme(265;0.00327)	1	160	+	all_cancers(95;0.00108)		30						Missense_Mutation	SNP	ENST00000550708.1	37	c.88C>A	CCDS32017.1	.	.	.	.	.	.	.	.	.	.	c	4.966	0.179383	0.09443	.	.	ENSG00000257115	ENST00000550708	T	0.00428	7.44	.	.	.	.	0.262380	0.19287	U	0.118013	T	0.00241	0.0007	N	0.20445	0.575	0.22562	N	0.998985	B	0.18166	0.026	B	0.24541	0.054	T	0.21552	-1.0242	8	0.87932	D	0	.	6.4784	0.22049	0.0:0.9998:0.0:2.0E-4	.	30	B2RN74	O11HC_HUMAN	K	30	ENSP00000449002:Q30K	ENSP00000449002:Q30K	Q	+	1	0	CR383656.1	18447681	0.000000	0.05858	0.033000	0.17914	0.064000	0.16182	-2.266000	0.01171	0.413000	0.25759	0.064000	0.15345	CAA		0.413	OR11H12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000408402.1	NM_001013354		29	83	1	0	1.2476e-16	1	1.47313e-16	29	83				
CCDC7	79741	broad.mit.edu	37	10	32740782	32740782	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr10:32740782C>T	ENST00000362006.5	+	2	755	c.212C>T	c.(211-213)tCg>tTg	p.S71L	CCDC7_ENST00000277657.6_Missense_Mutation_p.S71L|CCDC7_ENST00000539197.1_Missense_Mutation_p.S71L|CCDC7_ENST00000537047.1_Missense_Mutation_p.S71L|CCDC7_ENST00000535327.1_Missense_Mutation_p.S71L|CCDC7_ENST00000545067.1_Missense_Mutation_p.S71L	NM_145023.4	NP_659460.3	Q96M83	CCDC7_HUMAN	coiled-coil domain containing 7	71										NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)	14		Breast(68;0.000207)|Prostate(175;0.0107)				CCCATTCCATCGAGTAAGACA	0.368																																						ENST00000545067.1																			0				NS(1)|breast(2)|cervix(1)|endometrium(1)|large_intestine(3)|lung(4)|prostate(2)	14						c.(211-213)tCg>tTg		coiled-coil domain containing 7							72.0	67.0	68.0					10																	32740782		2203	4300	6503	SO:0001583	missense	221016							g.chr10:32740782C>T	BC022020	CCDS7173.1	10p11.23	2013-12-13			ENSG00000216937	ENSG00000216937			26533	protein-coding gene	gene with protein product			"""chromosome 10 open reading frame 68"""	C10orf68		12477932	Standard	NM_024688		Approved	FLJ32762, FLJ13031	uc001iwk.3	Q96M83	OTTHUMG00000150517	ENST00000362006.5:c.212C>T	10.37:g.32740782C>T	ENSP00000355078:p.Ser71Leu					CCDC7_ENST00000535327.1_Missense_Mutation_p.S71L|CCDC7_ENST00000539197.1_Missense_Mutation_p.S71L|CCDC7_ENST00000362006.5_Missense_Mutation_p.S71L|CCDC7_ENST00000537047.1_Missense_Mutation_p.S71L|CCDC7_ENST00000277657.6_Missense_Mutation_p.S71L	p.S71L			Q96M83	CCDC7_HUMAN			2	508	+		Breast(68;0.000207)|Prostate(175;0.0107)	71					Q5VW55|Q8IVQ0|Q8NEQ0	Missense_Mutation	SNP	ENST00000362006.5	37	c.212C>T	CCDS7173.1	.	.	.	.	.	.	.	.	.	.	C	13.46	2.244144	0.39697	.	.	ENSG00000216937	ENST00000324147;ENST00000277657;ENST00000362006;ENST00000545067;ENST00000539197;ENST00000537047;ENST00000535327	T;T;T;T;T;T	0.48836	0.8;0.8;0.8;0.8;0.8;0.8	5.44	4.53	0.55603	.	.	.	.	.	T	0.41949	0.1181	N	0.16656	0.425	0.27461	N	0.953144	P;D	0.63880	0.877;0.993	B;P	0.54060	0.343;0.741	T	0.16988	-1.0384	9	0.27785	T	0.31	.	10.0908	0.42445	0.0:0.9073:0.0:0.0927	.	71;71	A6YT98;Q96M83	.;CCDC7_HUMAN	L	71	ENSP00000277657:S71L;ENSP00000355078:S71L;ENSP00000439930:S71L;ENSP00000441041:S71L;ENSP00000440632:S71L;ENSP00000442531:S71L	ENSP00000277657:S71L	S	+	2	0	CCDC7	32780788	0.985000	0.35326	0.597000	0.28824	0.259000	0.26198	1.654000	0.37334	1.287000	0.44583	0.655000	0.94253	TCG		0.368	CCDC7-002	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000047490.1	NM_145023		6	14	0	0	0	1	0	6	14				
ANXA4	307	broad.mit.edu	37	2	70047928	70047928	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:70047928G>A	ENST00000394295.4	+	12	1129	c.881G>A	c.(880-882)gGa>gAa	p.G294E	ANXA4_ENST00000536030.1_Missense_Mutation_p.G210E|ANXA4_ENST00000409920.1_Missense_Mutation_p.G272E	NM_001153.3	NP_001144.1	P09525	ANXA4_HUMAN	annexin A4	292					epithelial cell differentiation (GO:0030855)|negative regulation of apoptotic process (GO:0043066)|negative regulation of catalytic activity (GO:0043086)|negative regulation of interleukin-8 secretion (GO:2000483)|negative regulation of NF-kappaB transcription factor activity (GO:0032088)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle membrane (GO:0012506)	calcium ion binding (GO:0005509)|calcium-dependent phospholipid binding (GO:0005544)|calcium-dependent protein binding (GO:0048306)|identical protein binding (GO:0042802)|NF-kappaB binding (GO:0051059)|phospholipase inhibitor activity (GO:0004859)			endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	11						AGACTCTATGGAAAGTCTCTG	0.478																																						ENST00000394295.4																			0				endometrium(1)|kidney(1)|large_intestine(4)|lung(4)|ovary(1)	11						c.(880-882)gGa>gAa		annexin A4							117.0	110.0	112.0					2																	70047928		2203	4300	6503	SO:0001583	missense	307				anti-apoptosis|signal transduction	cytoplasm	calcium ion binding|calcium-dependent phospholipid binding|phospholipase inhibitor activity	g.chr2:70047928G>A	M82809	CCDS1894.1	2p13.3	2008-02-05			ENSG00000196975	ENSG00000196975		"""Annexins"""	542	protein-coding gene	gene with protein product		106491		ANX4		1346776	Standard	NM_001153		Approved		uc002sfr.4	P09525	OTTHUMG00000129649	ENST00000394295.4:c.881G>A	2.37:g.70047928G>A	ENSP00000377833:p.Gly294Glu					ANXA4_ENST00000536030.1_Missense_Mutation_p.G210E|ANXA4_ENST00000409920.1_Missense_Mutation_p.G272E	p.G294E	NM_001153.3	NP_001144.1	P09525	ANXA4_HUMAN			12	1129	+			292					B4DDF9|Q96F33|Q9BWK1	Missense_Mutation	SNP	ENST00000394295.4	37	c.881G>A	CCDS1894.1	.	.	.	.	.	.	.	.	.	.	G	26.2	4.717972	0.89205	.	.	ENSG00000196975	ENST00000409920;ENST00000394295;ENST00000536030	T;T;T	0.05081	3.5;3.5;3.5	5.64	5.64	0.86602	Annexin repeat, conserved site (1);	0.000000	0.85682	D	0.000000	T	0.19765	0.0475	L	0.48642	1.525	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;0.999;1.0	T	0.00174	-1.1956	9	.	.	.	.	17.194	0.86887	0.0:0.0:1.0:0.0	.	292;272;294	P09525;Q6P452;Q6LES2	ANXA4_HUMAN;.;.	E	272;294;210	ENSP00000386756:G272E;ENSP00000377833:G294E;ENSP00000441931:G210E	.	G	+	2	0	ANXA4	69901432	1.000000	0.71417	0.993000	0.49108	0.999000	0.98932	7.547000	0.82146	2.663000	0.90544	0.650000	0.86243	GGA		0.478	ANXA4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251848.2	NM_001153		31	66	0	0	0	1	0	31	66				
CXXC5	51523	broad.mit.edu	37	5	139060660	139060660	+	Silent	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr5:139060660C>T	ENST00000302517.3	+	2	1266	c.552C>T	c.(550-552)agC>agT	p.S184S	CXXC5_ENST00000511048.1_Silent_p.S184S|CXXC5_ENST00000515038.1_3'UTR	NM_016463.7	NP_057547.5	Q7LFL8	CXXC5_HUMAN	CXXC finger protein 5	184					positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|signal transduction (GO:0007165)	cytoplasm (GO:0005737)|intracellular membrane-bounded organelle (GO:0043231)|nucleolus (GO:0005730)	DNA binding (GO:0003677)|signal transducer activity (GO:0004871)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			CGCTGATGAGCGAGGCGGGTG	0.652																																						ENST00000302517.3																			0				central_nervous_system(1)|endometrium(1)|large_intestine(2)|lung(7)|upper_aerodigestive_tract(1)	12						c.(550-552)agC>agT		CXXC finger protein 5							31.0	39.0	37.0					5																	139060660		2164	4257	6421	SO:0001819	synonymous_variant	51523				positive regulation of I-kappaB kinase/NF-kappaB cascade	cytoplasm|nucleus	DNA binding|signal transducer activity|zinc ion binding	g.chr5:139060660C>T	AK024338	CCDS43370.1	5q31.3	2014-02-18	2011-12-01						26943	protein-coding gene	gene with protein product	"""retinoid-inducible nuclear factor"", ""WT1-induced Inhibitor of Dishevelled"""	612752				11042152, 19001364, 19182210, 20220130	Standard	NM_016463		Approved	HSPC195, RINF, WID	uc010jfg.1	Q7LFL8		ENST00000302517.3:c.552C>T	5.37:g.139060660C>T						CXXC5_ENST00000515038.1_3'UTR|CXXC5_ENST00000511048.1_Silent_p.S184S	p.S184S	NM_016463.7	NP_057547.5	Q7LFL8	CXXC5_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		2	1266	+			184					B3KND0|C8CBA8|Q8TB79|Q9NV51|Q9P0S8	Silent	SNP	ENST00000302517.3	37	c.552C>T	CCDS43370.1																																																																																				0.652	CXXC5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372744.1	NM_016463		14	36	0	0	0	1	0	14	36				
IL4R	3566	broad.mit.edu	37	16	27374287	27374287	+	Silent	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr16:27374287G>A	ENST00000395762.2	+	11	1873	c.1614G>A	c.(1612-1614)gaG>gaA	p.E538E	IL4R_ENST00000380922.3_Silent_p.E523E|IL4R_ENST00000543915.2_Silent_p.E538E|IL4R_ENST00000170630.2_Silent_p.E538E	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN	interleukin 4 receptor	538	Required for IRS1 activation and IL4- induced cell growth.				defense response to protozoan (GO:0042832)|immune response (GO:0006955)|interleukin-4-mediated signaling pathway (GO:0035771)|intracellular signal transduction (GO:0035556)|negative regulation of T-helper 1 cell differentiation (GO:0045626)|ovulation (GO:0030728)|positive regulation of chemokine secretion (GO:0090197)|positive regulation of macrophage activation (GO:0043032)|positive regulation of T-helper 2 cell differentiation (GO:0045630)|production of molecular mediator involved in inflammatory response (GO:0002532)|regulation of cell proliferation (GO:0042127)|response to estrogen (GO:0043627)|signal transduction (GO:0007165)	extracellular space (GO:0005615)|integral component of plasma membrane (GO:0005887)|receptor complex (GO:0043235)	interleukin-4 receptor activity (GO:0004913)|receptor signaling protein activity (GO:0005057)			breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						AGCTCTCTGAGCCAACCACTG	0.647																																						ENST00000395762.2																			0				breast(3)|endometrium(2)|kidney(2)|large_intestine(2)|lung(15)|ovary(2)|prostate(2)|skin(2)|stomach(2)|upper_aerodigestive_tract(1)	33						c.(1612-1614)gaG>gaA		interleukin 4 receptor							32.0	36.0	35.0					16																	27374287		2197	4300	6497	SO:0001819	synonymous_variant	3566				immune response|production of molecular mediator involved in inflammatory response	integral to plasma membrane	identical protein binding|interleukin-4 receptor activity|receptor signaling protein activity	g.chr16:27374287G>A	X52425	CCDS10629.1, CCDS58441.1	16p12.1-p11.2	2008-05-14			ENSG00000077238	ENSG00000077238		"""Interleukins and interleukin receptors"", ""CD molecules"""	6015	protein-coding gene	gene with protein product		147781				1679753	Standard	NM_000418		Approved	CD124	uc010bxy.4	P24394	OTTHUMG00000097015	ENST00000395762.2:c.1614G>A	16.37:g.27374287G>A						IL4R_ENST00000380922.3_Silent_p.E523E|IL4R_ENST00000543915.2_Silent_p.E538E|IL4R_ENST00000170630.2_Silent_p.E538E	p.E538E	NM_000418.3	NP_000409.1	P24394	IL4RA_HUMAN			11	1873	+			538			Required for IRS1 activation and IL4- induced cell growth.		B4E076|B9EKU8|H3BSY5|Q96P01|Q9H181|Q9H182|Q9H183|Q9H184|Q9H185|Q9H186|Q9H187|Q9H188	Silent	SNP	ENST00000395762.2	37	c.1614G>A	CCDS10629.1																																																																																				0.647	IL4R-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214104.4			30	49	0	0	0	1	0	30	49				
ZAN	7455	broad.mit.edu	37	7	100345978	100345978	+	RNA	SNP	C	C	T	rs200460391	byFrequency	TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:100345978C>T	ENST00000348028.3	+	0	1299				ZAN_ENST00000542585.1_RNA|ZAN_ENST00000421100.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000449052.1_RNA			Q9Y493	ZAN_HUMAN	zonadhesin (gene/pseudogene)						binding of sperm to zona pellucida (GO:0007339)|single organismal cell-cell adhesion (GO:0016337)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139	Lung NSC(181;0.041)|all_lung(186;0.0581)		STAD - Stomach adenocarcinoma(171;0.19)			TTGAAGACAACGCCCATCCCT	0.582													C|||	5	0.000998403	0.0008	0.0	5008	,	,		17429	0.0		0.003	False		,,,				2504	0.001					ENST00000542585.1																			0				NS(2)|breast(3)|central_nervous_system(3)|endometrium(21)|kidney(6)|large_intestine(18)|lung(60)|ovary(4)|pancreas(3)|prostate(5)|skin(8)|stomach(3)|upper_aerodigestive_tract(3)	139								zonadhesin (gene/pseudogene)		C	,	1,3799		0,1,1899	80.0	80.0	80.0		1134,1134	-9.6	0.0	7		80	9,8233		0,9,4112	yes	coding-synonymous,coding-synonymous	ZAN	NM_003386.1,NM_173059.1	,	0,10,6011	TT,TC,CC		0.1092,0.0263,0.083	,	378/2813,378/2722	100345978	10,12032	1900	4121	6021			7455				binding of sperm to zona pellucida|cell-cell adhesion	integral to membrane|plasma membrane		g.chr7:100345978C>T	U83191		7q22.1	2013-10-10	2013-10-10		ENSG00000146839	ENSG00000146839			12857	protein-coding gene	gene with protein product		602372	"""zonadhesin"""			9799793, 17033959	Standard	NM_003386		Approved		uc003uwk.3	Q9Y493	OTTHUMG00000157037		7.37:g.100345978C>T						ZAN_ENST00000421100.1_RNA|ZAN_ENST00000449052.1_RNA|ZAN_ENST00000546213.1_RNA|ZAN_ENST00000349350.6_RNA|ZAN_ENST00000546292.1_RNA|ZAN_ENST00000427578.1_RNA|ZAN_ENST00000538115.1_RNA|ZAN_ENST00000443370.1_RNA|ZAN_ENST00000348028.3_RNA		NM_003386.1	NP_003377.1	Q9Y493	ZAN_HUMAN	STAD - Stomach adenocarcinoma(171;0.19)		0	1282	+	Lung NSC(181;0.041)|all_lung(186;0.0581)							A0FKC8|D6W5W4|O00218|Q96L85|Q96L86|Q96L87|Q96L88|Q96L89|Q96L90|Q9BXN9|Q9BZ83|Q9BZ84|Q9BZ85|Q9BZ86|Q9BZ87|Q9BZ88	RNA	SNP	ENST00000348028.3	37																																																																																						0.582	ZAN-006	KNOWN	basic	polymorphic_pseudogene	polymorphic_pseudogene	OTTHUMT00000347214.1	NM_003386		21	51	0	0	0	1	0	21	51				
RNASE9	390443	broad.mit.edu	37	14	21025078	21025078	+	Missense_Mutation	SNP	A	A	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr14:21025078A>T	ENST00000557068.1	-	4	1876	c.151T>A	c.(151-153)Ttt>Att	p.F51I	RNASE9_ENST00000554964.1_Missense_Mutation_p.F51I|RNASE9_ENST00000404716.3_Missense_Mutation_p.F56I|RNASE9_ENST00000557209.1_Missense_Mutation_p.F56I|RNASE9_ENST00000556208.1_Missense_Mutation_p.F56I|RNASE9_ENST00000555230.1_Missense_Mutation_p.F51I|RNASE9_ENST00000429244.2_Missense_Mutation_p.F51I|RNASE9_ENST00000338904.3_Missense_Mutation_p.F51I|RNASE9_ENST00000553541.1_Missense_Mutation_p.F51I|RNASE9_ENST00000553706.1_Missense_Mutation_p.F56I			P60153	RNAS9_HUMAN	ribonuclease, RNase A family, 9 (non-active)	51						extracellular region (GO:0005576)	nucleic acid binding (GO:0003676)	p.F51I(1)		haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|ovary(2)|urinary_tract(1)	8	all_cancers(95;0.00238)		Epithelial(56;3.32e-06)|all cancers(55;2.46e-05)	GBM - Glioblastoma multiforme(265;0.0141)		GTACTAAAAAATTTTTCCAAA	0.403																																						ENST00000557068.1																			1	Substitution - Missense(1)	p.F51I(1)	large_intestine(1)	haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(2)|ovary(2)|urinary_tract(1)	8						c.(151-153)Ttt>Att		ribonuclease, RNase A family, 9 (non-active)							102.0	107.0	105.0					14																	21025078		2203	4300	6503	SO:0001583	missense	390443					extracellular region	nucleic acid binding|pancreatic ribonuclease activity	g.chr14:21025078A>T	AY665804	CCDS32036.1, CCDS53883.1, CCDS55904.1	14q11.2	2006-10-31				ENSG00000188655		"""Ribonucleases, RNase A"""	20673	protein-coding gene	gene with protein product		614014				15676279, 12920233	Standard	NM_001001673		Approved	h461	uc010ahu.3	P60153		ENST00000557068.1:c.151T>A	14.37:g.21025078A>T	ENSP00000451565:p.Phe51Ile					RNASE9_ENST00000338904.3_Missense_Mutation_p.F51I|RNASE9_ENST00000554964.1_Missense_Mutation_p.F51I|RNASE9_ENST00000553706.1_Missense_Mutation_p.F56I|RNASE9_ENST00000553541.1_Missense_Mutation_p.F51I|RNASE9_ENST00000557209.1_Missense_Mutation_p.F56I|RNASE9_ENST00000429244.2_Missense_Mutation_p.F51I|RNASE9_ENST00000556208.1_Missense_Mutation_p.F56I|RNASE9_ENST00000404716.3_Missense_Mutation_p.F56I|RNASE9_ENST00000555230.1_Missense_Mutation_p.F51I	p.F51I			P60153	RNAS9_HUMAN	Epithelial(56;3.32e-06)|all cancers(55;2.46e-05)	GBM - Glioblastoma multiforme(265;0.0141)	4	1876	-	all_cancers(95;0.00238)		51					A2RQR8|A8QJS1|Q5GAN7|Q6KG53	Missense_Mutation	SNP	ENST00000557068.1	37	c.151T>A	CCDS32036.1	.	.	.	.	.	.	.	.	.	.	A	13.92	2.381867	0.42207	.	.	ENSG00000188655	ENST00000338904;ENST00000554964;ENST00000555230;ENST00000557068;ENST00000404716;ENST00000556208;ENST00000553541;ENST00000429244;ENST00000553706;ENST00000557209	T;T;T;T;T;T;T;T;T;T	0.11604	2.78;2.78;2.78;2.78;2.76;2.76;2.78;2.78;2.76;2.76	3.62	-7.24	0.01475	.	.	.	.	.	T	0.05547	0.0146	L	0.28274	0.84	0.09310	N	1	B;B	0.21905	0.062;0.05	B;B	0.23716	0.048;0.028	T	0.39292	-0.9621	9	0.52906	T	0.07	-11.853	1.6904	0.02850	0.195:0.3383:0.0882:0.3786	.	51;56	P60153;P60153-2	RNAS9_HUMAN;.	I	51;51;51;51;56;56;51;51;56;56	ENSP00000340162:F51I;ENSP00000450599:F51I;ENSP00000450800:F51I;ENSP00000451565:F51I;ENSP00000384683:F56I;ENSP00000451160:F56I;ENSP00000451285:F51I;ENSP00000409504:F51I;ENSP00000450570:F56I;ENSP00000450987:F56I	ENSP00000340162:F51I	F	-	1	0	RNASE9	20094918	0.000000	0.05858	0.000000	0.03702	0.002000	0.02628	-0.813000	0.04491	-1.853000	0.01165	-0.452000	0.05504	TTT		0.403	RNASE9-004	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000411094.1	NM_001001673		26	62	0	0	0	1	0	26	62				
AGTRAP	57085	broad.mit.edu	37	1	11810281	11810281	+	3'UTR	SNP	G	G	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:11810281G>T	ENST00000314340.5	+	0	566				AGTRAP_ENST00000376629.4_3'UTR|AGTRAP_ENST00000510878.1_Missense_Mutation_p.G136C|AGTRAP_ENST00000452018.2_3'UTR|AGTRAP_ENST00000491346.1_3'UTR|AGTRAP_ENST00000376627.2_3'UTR|AGTRAP_ENST00000376637.3_3'UTR|AGTRAP_ENST00000400895.2_3'UTR	NM_020350.4	NP_065083.3	Q6RW13	ATRAP_HUMAN	angiotensin II receptor-associated protein						regulation of blood pressure (GO:0008217)|response to hypoxia (GO:0001666)	cell cortex (GO:0005938)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	angiotensin type II receptor activity (GO:0004945)		AGTRAP/BRAF(2)	endometrium(1)|lung(3)|prostate(1)	5	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.46e-06)|COAD - Colon adenocarcinoma(227;0.000256)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)		CCCTGCCCCGGGCCTTCCTCG	0.637																																						ENST00000510878.1																		AGTRAP/BRAF(2)	0				endometrium(1)|lung(3)|prostate(1)	5						c.(406-408)Ggc>Tgc		angiotensin II receptor-associated protein							15.0	17.0	16.0					1																	11810281		2201	4296	6497	SO:0001624	3_prime_UTR_variant	57085					cytoplasmic vesicle membrane|endoplasmic reticulum membrane|Golgi membrane|integral to membrane	protein binding	g.chr1:11810281G>T	AF165187	CCDS136.1, CCDS30585.1, CCDS30586.1, CCDS41248.1, CCDS44056.1	1p36.22	2008-02-05			ENSG00000177674	ENSG00000177674			13539	protein-coding gene	gene with protein product		608729				11733189	Standard	NM_001040194		Approved	ATRAP	uc001asv.3	Q6RW13	OTTHUMG00000002230	ENST00000314340.5:c.*32G>T	1.37:g.11810281G>T						AGTRAP_ENST00000314340.5_3'UTR|AGTRAP_ENST00000491346.1_3'UTR|AGTRAP_ENST00000452018.2_3'UTR|AGTRAP_ENST00000376627.2_3'UTR|AGTRAP_ENST00000400895.2_3'UTR|AGTRAP_ENST00000376629.4_3'UTR|AGTRAP_ENST00000376637.3_3'UTR	p.G136C			Q6RW13	ATRAP_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0228)|Colorectal(212;5.46e-06)|COAD - Colon adenocarcinoma(227;0.000256)|BRCA - Breast invasive adenocarcinoma(304;0.0003)|Kidney(185;0.000762)|KIRC - Kidney renal clear cell carcinoma(229;0.00258)|STAD - Stomach adenocarcinoma(313;0.00727)|READ - Rectum adenocarcinoma(331;0.0649)	4	440	+	Ovarian(185;0.249)	Lung NSC(185;4.15e-05)|all_lung(284;4.76e-05)|Renal(390;0.000147)|Breast(348;0.00093)|Colorectal(325;0.00205)|Hepatocellular(190;0.00826)|Ovarian(437;0.00965)|Myeloproliferative disorder(586;0.0255)	0					A8MVQ5|Q5SNV4|Q5SNV5|Q96AC0|Q96PL4|Q9NRW9	Missense_Mutation	SNP	ENST00000314340.5	37	c.406G>T	CCDS136.1	.	.	.	.	.	.	.	.	.	.	G	4.976	0.181308	0.09495	.	.	ENSG00000177674	ENST00000510878	.	.	.	2.04	1.06	0.20224	.	.	.	.	.	T	0.39200	0.1069	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.36625	-0.9740	5	0.87932	D	0	.	5.6	0.17349	0.0:0.0:0.6756:0.3244	.	.	.	.	C	136	.	ENSP00000422647:G136C	G	+	1	0	AGTRAP	11732868	0.001000	0.12720	0.007000	0.13788	0.020000	0.10135	0.402000	0.20965	0.407000	0.25591	0.561000	0.74099	GGC		0.637	AGTRAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000006335.1	NM_020350		7	14	1	0	1.26484e-09	1	1.38681e-09	7	14				
MADD	8567	broad.mit.edu	37	11	47345332	47345332	+	Silent	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:47345332C>T	ENST00000311027.5	+	31	4653	c.4488C>T	c.(4486-4488)tgC>tgT	p.C1496C	MADD_ENST00000402799.1_Silent_p.C1394C|MADD_ENST00000395344.3_Silent_p.C1390C|MADD_ENST00000395336.3_Silent_p.C1496C|MADD_ENST00000406482.1_Silent_p.C1394C|MADD_ENST00000342922.4_Silent_p.C1437C|MADD_ENST00000405573.2_Silent_p.C306C|MADD_ENST00000349238.3_Silent_p.C1457C|MADD_ENST00000407859.3_Silent_p.C1414C|MADD_ENST00000402192.2_Silent_p.C1436C	NM_003682.3	NP_003673.3			MAP-kinase activating death domain											breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84				Lung(87;0.182)		AGGTGTTGTGCTTGTGGCGTA	0.488																																						ENST00000342922.4																			0				breast(7)|central_nervous_system(2)|endometrium(9)|kidney(3)|large_intestine(19)|lung(26)|ovary(6)|prostate(2)|skin(5)|upper_aerodigestive_tract(3)|urinary_tract(2)	84						c.(4309-4311)tgC>tgT		MAP-kinase activating death domain							185.0	146.0	159.0					11																	47345332		2201	4298	6499	SO:0001819	synonymous_variant	8567				activation of MAPK activity|apoptosis|cell surface receptor linked signaling pathway|regulation of apoptosis|regulation of cell cycle	cytoplasm|integral to membrane|plasma membrane	death receptor binding|protein kinase activator activity|Rab guanyl-nucleotide exchange factor activity	g.chr11:47345332C>T	AB002356	CCDS7930.1, CCDS7931.1, CCDS7932.1, CCDS41642.1, CCDS44586.1, CCDS44587.1, CCDS44588.1, CCDS44589.1, CCDS44590.1	11p11.2	2012-10-04			ENSG00000110514	ENSG00000110514		"""DENN/MADD domain containing"""	6766	protein-coding gene	gene with protein product		603584				9115275, 9796103	Standard	NM_130476		Approved	DENN, KIAA0358, RAB3GEP	uc001ner.1	Q8WXG6	OTTHUMG00000150350	ENST00000311027.5:c.4488C>T	11.37:g.47345332C>T						MADD_ENST00000402799.1_Silent_p.C1394C|MADD_ENST00000402192.2_Silent_p.C1436C|MADD_ENST00000395344.3_Silent_p.C1390C|MADD_ENST00000395336.3_Silent_p.C1496C|MADD_ENST00000405573.2_Silent_p.C306C|MADD_ENST00000407859.3_Silent_p.C1414C|MADD_ENST00000311027.5_Silent_p.C1496C|MADD_ENST00000349238.3_Silent_p.C1457C|MADD_ENST00000406482.1_Silent_p.C1394C	p.C1437C	NM_130470.2	NP_569826.2	Q8WXG6	MADD_HUMAN		Lung(87;0.182)	28	4668	+			1496						Silent	SNP	ENST00000311027.5	37	c.4311C>T	CCDS7930.1																																																																																				0.488	MADD-006	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000317746.1			13	39	0	0	0	1	0	13	39				
TUBGCP5	114791	broad.mit.edu	37	15	22866731	22866731	+	Silent	SNP	T	T	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr15:22866731T>C	ENST00000283645.4	+	17	2473	c.2343T>C	c.(2341-2343)ttT>ttC	p.F781F	TUBGCP5_ENST00000453949.2_Silent_p.F781F	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN	tubulin, gamma complex associated protein 5	781					G2/M transition of mitotic cell cycle (GO:0000086)|microtubule nucleation (GO:0007020)|mitotic cell cycle (GO:0000278)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|gamma-tubulin ring complex (GO:0008274)|microtubule (GO:0005874)|nucleus (GO:0005634)|spindle pole (GO:0000922)	microtubule binding (GO:0008017)			breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)		CTATATCTTTTGAAAATGTTG	0.338																																						ENST00000283645.4																			0				breast(5)|cervix(1)|endometrium(6)|kidney(1)|large_intestine(6)|lung(23)|prostate(1)|skin(2)|urinary_tract(1)	46						c.(2341-2343)ttT>ttC		tubulin, gamma complex associated protein 5							80.0	76.0	77.0					15																	22866731		2203	4300	6503	SO:0001819	synonymous_variant	114791				G2/M transition of mitotic cell cycle|microtubule nucleation	centrosome|cytosol|gamma-tubulin ring complex|microtubule|spindle pole	microtubule binding	g.chr15:22866731T>C	AB067486	CCDS73697.1, CCDS73698.1	15q11.1	2014-04-17			ENSG00000153575	ENSG00000275835			18600	protein-coding gene	gene with protein product	"""gamma-tubulin complex component GCP5"""	608147				11694571	Standard	NM_052903		Approved	GCP5, KIAA1899	uc001yur.4	Q96RT8	OTTHUMG00000188371	ENST00000283645.4:c.2343T>C	15.37:g.22866731T>C						TUBGCP5_ENST00000453949.2_Silent_p.F781F	p.F781F	NM_052903.4	NP_443135.3	Q96RT8	GCP5_HUMAN		all cancers(64;2.86e-06)|Epithelial(43;2.63e-05)|BRCA - Breast invasive adenocarcinoma(123;0.000949)	17	2473	+		all_cancers(20;2.26e-25)|all_epithelial(15;2.1e-22)|Lung NSC(15;3.36e-17)|all_lung(15;1.04e-16)|Breast(32;0.000776)|Colorectal(260;0.0488)	781					E9PB12|Q6IQ52|Q96PY8	Silent	SNP	ENST00000283645.4	37	c.2343T>C	CCDS10008.1																																																																																				0.338	TUBGCP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250998.2	NM_052903		5	17	0	0	0	1	0	5	17				
WRN	7486	broad.mit.edu	37	8	30941236	30941236	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr8:30941236G>A	ENST00000298139.5	+	10	1540	c.1291G>A	c.(1291-1293)Gaa>Aaa	p.E431K		NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN	Werner syndrome, RecQ helicase-like	431	2 X 27 AA tandem repeats of H-L-S-P-N-D- N-E-N-D-T-S-Y-V-I-E-S-D-E-D-L-E-M-E-M-L- K.				aging (GO:0007568)|ATP catabolic process (GO:0006200)|base-excision repair (GO:0006284)|cell aging (GO:0007569)|cellular response to DNA damage stimulus (GO:0006974)|cellular response to gamma radiation (GO:0071480)|cellular response to starvation (GO:0009267)|DNA duplex unwinding (GO:0032508)|DNA metabolic process (GO:0006259)|DNA recombination (GO:0006310)|DNA replication (GO:0006260)|DNA synthesis involved in DNA repair (GO:0000731)|double-strand break repair (GO:0006302)|multicellular organismal aging (GO:0010259)|nucleic acid phosphodiester bond hydrolysis (GO:0090305)|nucleolus to nucleoplasm transport (GO:0032066)|positive regulation of hydrolase activity (GO:0051345)|regulation of apoptotic process (GO:0042981)|regulation of growth rate (GO:0040009)|replication fork processing (GO:0031297)|replicative cell aging (GO:0001302)|response to oxidative stress (GO:0006979)|response to UV-C (GO:0010225)|telomere maintenance (GO:0000723)	centrosome (GO:0005813)|nucleolus (GO:0005730)|nucleoplasm (GO:0005654)	3'-5' DNA helicase activity (GO:0043138)|3'-5' exonuclease activity (GO:0008408)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|ATP-dependent DNA helicase activity (GO:0004003)|ATPase activity (GO:0016887)|bubble DNA binding (GO:0000405)|DNA binding (GO:0003677)|DNA helicase activity (GO:0003678)|exonuclease activity (GO:0004527)|four-way junction helicase activity (GO:0009378)|G-quadruplex DNA binding (GO:0051880)|helicase activity (GO:0004386)|magnesium ion binding (GO:0000287)|manganese ion binding (GO:0030145)|protein complex binding (GO:0032403)|protein homodimerization activity (GO:0042803)|Y-form DNA binding (GO:0000403)			central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60		Breast(100;0.195)		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)		CAATGATAATGAAAACGATAC	0.284			"""Mis, N, F, S"""			"""osteosarcoma, meningioma, others"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome																												Ovarian(18;161 598 2706 14834 27543)	ENST00000298139.5			yes	Rec		Werner Syndrome	8	8p12-p11.2	7486	"""Mis, N, F, S"""	Werner syndrome (RECQL2)			"""L, E, M, O"""		"""osteosarcoma, meningioma, others"""			0				central_nervous_system(2)|endometrium(4)|kidney(4)|large_intestine(13)|lung(28)|ovary(3)|skin(3)|upper_aerodigestive_tract(3)	60						c.(1291-1293)Gaa>Aaa	Genes defective in diseases associated with sensitivity to DNA damaging agents	Werner syndrome, RecQ helicase-like							77.0	78.0	78.0					8																	30941236		2201	4284	6485	SO:0001583	missense	7486	Werner syndrome	Familial Cancer Database	WS, Adult Progeria	base-excision repair|cellular response to starvation|DNA recombination|DNA synthesis involved in DNA repair|multicellular organismal aging|nucleolus to nucleoplasm transport|positive regulation of hydrolase activity|regulation of apoptosis|replication fork processing|response to oxidative stress|response to UV-C|telomere maintenance	centrosome|nucleolus|nucleoplasm	3'-5' exonuclease activity|ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|four-way junction helicase activity|G-quadruplex DNA binding|magnesium ion binding|manganese ion binding|protein complex binding|protein homodimerization activity|Y-form DNA binding	g.chr8:30941236G>A		CCDS6082.1	8p12	2014-09-17	2009-03-19		ENSG00000165392	ENSG00000165392			12791	protein-coding gene	gene with protein product		604611	"""Werner syndrome"""			9288107	Standard	NM_000553		Approved	RECQL2, RECQ3	uc003xio.4	Q14191	OTTHUMG00000163894	ENST00000298139.5:c.1291G>A	8.37:g.30941236G>A	ENSP00000298139:p.Glu431Lys						p.E431K	NM_000553.4	NP_000544.2	Q14191	WRN_HUMAN		KIRC - Kidney renal clear cell carcinoma(542;0.147)|Kidney(114;0.176)|Colorectal(111;0.192)	10	1540	+		Breast(100;0.195)	431			2 X 27 AA tandem repeats of H-L-S-P-N-D- N-E-N-D-T-S-Y-V-I-E-S-D-E-D-L-E-M-E-M-L- K.		A1KYY9	Missense_Mutation	SNP	ENST00000298139.5	37	c.1291G>A	CCDS6082.1	.	.	.	.	.	.	.	.	.	.	g	6.478	0.456457	0.12283	.	.	ENSG00000165392	ENST00000298139	T	0.45276	0.9	3.95	3.95	0.45737	.	0.226724	0.37304	N	0.002160	T	0.41627	0.1167	M	0.66939	2.045	0.30411	N	0.779031	B	0.29862	0.259	B	0.26614	0.071	T	0.49844	-0.8896	10	0.40728	T	0.16	-0.0024	14.9114	0.70761	0.0:0.0:1.0:0.0	.	431	Q14191	WRN_HUMAN	K	431	ENSP00000298139:E431K	ENSP00000298139:E431K	E	+	1	0	WRN	31060778	1.000000	0.71417	0.754000	0.31244	0.101000	0.19017	3.406000	0.52637	1.916000	0.55485	0.305000	0.20034	GAA		0.284	WRN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000376248.1			6	33	0	0	0	1	0	6	33				
AGO2	27161	broad.mit.edu	37	8	141542697	141542697	+	Silent	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr8:141542697C>T	ENST00000220592.5	-	18	2401	c.2289G>A	c.(2287-2289)tcG>tcA	p.S763S	AGO2_ENST00000519980.1_Silent_p.S729S	NM_012154.3	NP_036286.2	Q9UKV8	AGO2_HUMAN	argonaute RISC catalytic component 2	763	Piwi. {ECO:0000255|HAMAP-Rule:MF_03031}.				epidermal growth factor receptor signaling pathway (GO:0007173)|Fc-epsilon receptor signaling pathway (GO:0038095)|fibroblast growth factor receptor signaling pathway (GO:0008543)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|innate immune response (GO:0045087)|mRNA cleavage involved in gene silencing by miRNA (GO:0035279)|negative regulation of translation involved in gene silencing by miRNA (GO:0035278)|negative regulation of translational initiation (GO:0045947)|neurotrophin TRK receptor signaling pathway (GO:0048011)|Notch signaling pathway (GO:0007219)|phosphatidylinositol-mediated signaling (GO:0048015)|positive regulation of nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:1900153)|positive regulation of nuclear-transcribed mRNA poly(A) tail shortening (GO:0060213)|post-embryonic development (GO:0009791)|pre-miRNA processing (GO:0031054)|regulation of transcription, DNA-templated (GO:0006355)|RNA phosphodiester bond hydrolysis, endonucleolytic (GO:0090502)|transcription, DNA-templated (GO:0006351)|translation (GO:0006412)|translational initiation (GO:0006413)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytosol (GO:0005829)|membrane (GO:0016020)|micro-ribonucleoprotein complex (GO:0035068)|mRNA cap binding complex (GO:0005845)|nucleus (GO:0005634)|polysome (GO:0005844)|ribonucleoprotein complex (GO:0030529)|RISC complex (GO:0016442)	endoribonuclease activity (GO:0004521)|endoribonuclease activity, cleaving siRNA-paired mRNA (GO:0070551)|metal ion binding (GO:0046872)|miRNA binding (GO:0035198)|mRNA binding (GO:0003729)|poly(A) RNA binding (GO:0044822)|RNA 7-methylguanosine cap binding (GO:0000340)|siRNA binding (GO:0035197)|translation initiation factor activity (GO:0003743)										CGTGATAGTGCGAAGGCCTGC	0.468																																						ENST00000220592.5																			0											c.(2287-2289)tcG>tcA		argonaute RISC catalytic component 2							88.0	66.0	74.0					8																	141542697		2203	4300	6503	SO:0001819	synonymous_variant	27161							g.chr8:141542697C>T	AF121255	CCDS6380.1, CCDS55279.1	8q24.3	2013-02-15	2013-02-15	2013-02-15	ENSG00000123908	ENSG00000123908		"""Argonaute/PIWI family"""	3263	protein-coding gene	gene with protein product	"""argonaute 2"""	606229	"""eukaryotic translation initiation factor 2C, 2"""	EIF2C2		10534406, 12906857	Standard	NM_012154		Approved	hAGO2, Q10	uc003yvn.3	Q9UKV8	OTTHUMG00000164232	ENST00000220592.5:c.2289G>A	8.37:g.141542697C>T						AGO2_ENST00000519980.1_Silent_p.S729S	p.S763S	NM_012154.3	NP_036286.2					18	2401	-								Q8TCZ5|Q8WV58|Q96ID1	Silent	SNP	ENST00000220592.5	37	c.2289G>A	CCDS6380.1																																																																																				0.468	AGO2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000377866.4			21	43	0	0	0	1	0	21	43				
MROH9	80133	broad.mit.edu	37	1	170965697	170965697	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:170965697C>A	ENST00000367758.3	+	14	1486	c.1387C>A	c.(1387-1389)Cag>Aag	p.Q463K	MROH9_ENST00000367759.4_Missense_Mutation_p.Q463K	NM_025063.2	NP_079339.2	Q5TGP6	MROH9_HUMAN	maestro heat-like repeat family member 9	463																	TGGACTGCAACAGGTGGATAT	0.428																																						ENST00000367759.4																			0											c.(1387-1389)Cag>Aag		maestro heat-like repeat family member 9							169.0	160.0	163.0					1																	170965697		1870	4111	5981	SO:0001583	missense	80133							g.chr1:170965697C>A	AK027203	CCDS41436.1, CCDS53429.1	1q24.3	2012-12-19	2012-12-19	2012-12-19	ENSG00000117501	ENSG00000117501		"""maestro heat-like repeat containing"""	26287	protein-coding gene	gene with protein product			"""chromosome 1 open reading frame 129"""	C1orf129			Standard	NM_025063		Approved	FLJ23550, ARMC11	uc010plz.2	Q5TGP6	OTTHUMG00000041456	ENST00000367758.3:c.1387C>A	1.37:g.170965697C>A	ENSP00000356732:p.Gln463Lys					MROH9_ENST00000367758.3_Missense_Mutation_p.Q463K	p.Q463K	NM_001163629.1	NP_001157101.1					14	1541	+								A0PJM0|A0PJM2|F5GWX6|Q9H5D7	Missense_Mutation	SNP	ENST00000367758.3	37	c.1387C>A	CCDS41436.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	8.527|8.527	0.870157|0.870157	0.17322|0.17322	.|.	.|.	ENSG00000117501|ENSG00000117501	ENST00000367759;ENST00000367758|ENST00000426136	T;T|.	0.14144|.	4.17;2.53|.	5.75|5.75	-11.5|-11.5	0.00074|0.00074	.|.	1.886120|.	0.02212|.	N|.	0.063316|.	T|T	0.09158|0.09158	0.0226|0.0226	N|N	0.17474|0.17474	0.49|0.49	0.09310|0.09310	N|N	1|1	B;B|.	0.13594|.	0.008;0.008|.	B;B|.	0.12837|.	0.008;0.008|.	T|T	0.22556|0.22556	-1.0213|-1.0213	10|5	0.21014|.	T|.	0.42|.	0.7117|0.7117	14.121|14.121	0.65186|0.65186	0.4109:0.1121:0.477:0.0|0.4109:0.1121:0.477:0.0	.|.	463;463|.	F5GWX6;Q5TGP6|.	.;CA129_HUMAN|.	K|K	463|69	ENSP00000356733:Q463K;ENSP00000356732:Q463K|.	ENSP00000356732:Q463K|.	Q|T	+|+	1|2	0|0	C1orf129|C1orf129	169232321|169232321	0.000000|0.000000	0.05858|0.05858	0.000000|0.000000	0.03702|0.03702	0.045000|0.045000	0.14185|0.14185	-2.535000|-2.535000	0.00940|0.00940	-2.586000|-2.586000	0.00459|0.00459	-1.045000|-1.045000	0.02358|0.02358	CAG|ACA		0.428	MROH9-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000099327.1	NM_025063		40	62	1	0	3.38236e-24	1	4.15353e-24	40	62				
LAMA5	3911	broad.mit.edu	37	20	60909061	60909061	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr20:60909061G>T	ENST00000252999.3	-	23	2840	c.2774C>A	c.(2773-2775)cCt>cAt	p.P925H	MIR4758_ENST00000577688.1_RNA	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	laminin, alpha 5	925	Domain IV 1 (domain IV B).				angiogenesis (GO:0001525)|branching involved in salivary gland morphogenesis (GO:0060445)|branching involved in ureteric bud morphogenesis (GO:0001658)|cell differentiation (GO:0030154)|cell migration (GO:0016477)|cell proliferation (GO:0008283)|cell recognition (GO:0008037)|cilium assembly (GO:0042384)|cytoskeleton organization (GO:0007010)|embryo development (GO:0009790)|endothelial cell differentiation (GO:0045446)|establishment of protein localization to plasma membrane (GO:0090002)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)|focal adhesion assembly (GO:0048041)|hair follicle development (GO:0001942)|integrin-mediated signaling pathway (GO:0007229)|lung development (GO:0030324)|morphogenesis of a polarized epithelium (GO:0001738)|morphogenesis of embryonic epithelium (GO:0016331)|muscle organ development (GO:0007517)|neural crest cell migration (GO:0001755)|odontogenesis of dentin-containing tooth (GO:0042475)|regulation of cell adhesion (GO:0030155)|regulation of cell migration (GO:0030334)|regulation of cell proliferation (GO:0042127)|regulation of embryonic development (GO:0045995)|substrate adhesion-dependent cell spreading (GO:0034446)	basal lamina (GO:0005605)|basement membrane (GO:0005604)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|laminin-1 complex (GO:0005606)|laminin-10 complex (GO:0043259)|laminin-11 complex (GO:0043260)|laminin-5 complex (GO:0005610)|nucleus (GO:0005634)	integrin binding (GO:0005178)|structural molecule activity (GO:0005198)			breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81	Breast(26;1.57e-08)		BRCA - Breast invasive adenocarcinoma(19;4.36e-06)			GAAAAGGTCAGGGGAGGTCAG	0.667																																						ENST00000252999.3																			0				breast(2)|central_nervous_system(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(3)|kidney(7)|lung(40)|ovary(1)|pancreas(1)|prostate(3)|skin(6)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	81						c.(2773-2775)cCt>cAt		laminin, alpha 5	Alteplase(DB00009)|Anistreplase(DB00029)|Reteplase(DB00015)|Tenecteplase(DB00031)						37.0	31.0	33.0					20																	60909061		2201	4295	6496	SO:0001583	missense	3911				angiogenesis|cell proliferation|cell recognition|cytoskeleton organization|endothelial cell differentiation|focal adhesion assembly|integrin-mediated signaling pathway|regulation of cell adhesion|regulation of cell migration|regulation of embryonic development|substrate adhesion-dependent cell spreading	extracellular space|laminin-1 complex|laminin-10 complex|laminin-11 complex	integrin binding	g.chr20:60909061G>T	AF443072	CCDS33502.1	20q13.2-q13.3	2013-03-01			ENSG00000130702	ENSG00000130702		"""Laminins"""	6485	protein-coding gene	gene with protein product		601033				9271224	Standard	NM_005560		Approved		uc002ycq.3	O15230	OTTHUMG00000032908	ENST00000252999.3:c.2774C>A	20.37:g.60909061G>T	ENSP00000252999:p.Pro925His						p.P925H	NM_005560.3	NP_005551.3	O15230	LAMA5_HUMAN	BRCA - Breast invasive adenocarcinoma(19;4.36e-06)		23	2840	-	Breast(26;1.57e-08)		925			Domain IV 1 (domain IV B).		Q8TDF8|Q8WZA7|Q9H1P1	Missense_Mutation	SNP	ENST00000252999.3	37	c.2774C>A	CCDS33502.1	.	.	.	.	.	.	.	.	.	.	g	15.66	2.899538	0.52227	.	.	ENSG00000130702	ENST00000252999	T	0.20069	2.1	4.54	4.54	0.55810	.	0.000000	0.85682	U	0.000000	T	0.40670	0.1126	L	0.48986	1.54	0.80722	D	1	D	0.89917	1.0	D	0.91635	0.999	T	0.11446	-1.0587	10	0.30078	T	0.28	.	17.2619	0.87072	0.0:0.0:1.0:0.0	.	925	O15230	LAMA5_HUMAN	H	925	ENSP00000252999:P925H	ENSP00000252999:P925H	P	-	2	0	LAMA5	60342456	1.000000	0.71417	0.975000	0.42487	0.389000	0.30415	8.467000	0.90390	2.049000	0.60858	0.543000	0.68304	CCT		0.667	LAMA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000080014.2	NM_005560		10	23	1	0	0.000151284	1	0.000155332	10	23				
AP5Z1	9907	broad.mit.edu	37	7	4824655	4824655	+	Missense_Mutation	SNP	C	C	T	rs373101852		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:4824655C>T	ENST00000348624.4	+	7	1001	c.907C>T	c.(907-909)Cgc>Tgc	p.R303C	AP5Z1_ENST00000401897.1_Missense_Mutation_p.R303C	NM_014855.2	NP_055670.1	O43299	AP5Z1_HUMAN	adaptor-related protein complex 5, zeta 1 subunit	303					cell death (GO:0008219)|double-strand break repair via homologous recombination (GO:0000724)|endosomal transport (GO:0016197)|protein transport (GO:0015031)	AP-5 adaptor complex (GO:0044599)|AP-type membrane coat adaptor complex (GO:0030119)|cytoplasm (GO:0005737)|nucleus (GO:0005634)											GTACTGCCAGCGCCTCATTGA	0.692																																						ENST00000348624.4																			0											c.(907-909)Cgc>Tgc		adaptor-related protein complex 5, zeta 1 subunit		C	CYS/ARG	0,3908		0,0,1954	26.0	31.0	30.0		907	3.6	1.0	7		30	1,8263		0,1,4131	no	missense	KIAA0415	NM_014855.2	180	0,1,6085	TT,TC,CC		0.0121,0.0,0.0082	probably-damaging	303/808	4824655	1,12171	1954	4132	6086	SO:0001583	missense	9907				cell death|double-strand break repair via homologous recombination	cytoplasm|nucleus	protein binding	g.chr7:4824655C>T	AB007875	CCDS47528.1	7p22.1	2012-03-20	2012-03-20	2012-03-20	ENSG00000242802	ENSG00000242802			22197	protein-coding gene	gene with protein product		613653	"""KIAA0415"""	KIAA0415		20613862, 22022230	Standard	NM_014855		Approved	SPG48, zeta	uc003sne.3	O43299	OTTHUMG00000151754	ENST00000348624.4:c.907C>T	7.37:g.4824655C>T	ENSP00000297562:p.Arg303Cys					AP5Z1_ENST00000401897.1_Missense_Mutation_p.R303C	p.R303C	NM_014855.2	NP_055670.1	O43299	K0415_HUMAN			7	1001	+			303					Q8N3X2|Q96H80	Missense_Mutation	SNP	ENST00000348624.4	37	c.907C>T	CCDS47528.1	.	.	.	.	.	.	.	.	.	.	C	23.8	4.459761	0.84317	0.0	1.21E-4	ENSG00000242802	ENST00000348624;ENST00000401897	T;T	0.65549	-0.16;-0.13	4.61	3.62	0.41486	.	0.063935	0.64402	D	0.000006	T	0.80154	0.4571	M	0.85299	2.745	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	D	0.84365	0.0540	10	0.87932	D	0	.	14.417	0.67158	0.1579:0.8421:0.0:0.0	.	303	O43299	K0415_HUMAN	C	303	ENSP00000297562:R303C;ENSP00000384980:R303C	ENSP00000297562:R303C	R	+	1	0	KIAA0415	4791181	1.000000	0.71417	1.000000	0.80357	0.988000	0.76386	4.599000	0.61076	2.117000	0.64856	0.561000	0.74099	CGC		0.692	AP5Z1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000323771.1			15	25	0	0	0	1	0	15	25				
ZNF423	23090	broad.mit.edu	37	16	49669695	49669695	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr16:49669695G>A	ENST00000561648.1	-	4	3421	c.3368C>T	c.(3367-3369)cCc>cTc	p.P1123L	ZNF423_ENST00000563137.2_Missense_Mutation_p.P1063L|ZNF423_ENST00000562520.1_Missense_Mutation_p.P1063L|ZNF423_ENST00000567169.1_Missense_Mutation_p.P1006L|ZNF423_ENST00000535559.1_Missense_Mutation_p.P1006L|ZNF423_ENST00000262383.2_Missense_Mutation_p.P1123L|ZNF423_ENST00000562871.1_Missense_Mutation_p.P1063L	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN	zinc finger protein 423	1123					cell differentiation (GO:0030154)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|Notch signaling pathway (GO:0007219)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of transcription, DNA-templated (GO:0045893)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89		all_cancers(37;0.0155)				ACTGCACTCGGGGCAACGGAG	0.716																																						ENST00000561648.1																			0				breast(1)|central_nervous_system(1)|endometrium(8)|kidney(6)|large_intestine(16)|lung(47)|ovary(1)|pancreas(2)|prostate(4)|skin(1)|urinary_tract(2)	89						c.(3367-3369)cCc>cTc		zinc finger protein 423							43.0	47.0	46.0					16																	49669695		2199	4299	6498	SO:0001583	missense	23090				cell differentiation|negative regulation of transcription, DNA-dependent|nervous system development|positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	zinc ion binding	g.chr16:49669695G>A	AB018303	CCDS32445.1, CCDS61930.1	16q12	2014-01-28				ENSG00000102935		"""Zinc fingers, C2H2-type"""	16762	protein-coding gene	gene with protein product	"""OLF-1/EBF associated zinc finger gene"", "" Smad- and Olf-interacting zinc finger protein"", ""early B-cell factor associated zinc finger protein"""	604557				9872452, 10660046	Standard	NM_001271620		Approved	KIAA0760, OAZ, Roaz, Ebfaz, Zfp104, NPHP14, JBTS19	uc031qwd.1	Q2M1K9		ENST00000561648.1:c.3368C>T	16.37:g.49669695G>A	ENSP00000455426:p.Pro1123Leu					ZNF423_ENST00000562520.1_Missense_Mutation_p.P1063L|ZNF423_ENST00000262383.2_Missense_Mutation_p.P1123L|ZNF423_ENST00000567169.1_Missense_Mutation_p.P1006L|ZNF423_ENST00000563137.2_Missense_Mutation_p.P1063L|ZNF423_ENST00000535559.1_Missense_Mutation_p.P1006L|ZNF423_ENST00000562871.1_Missense_Mutation_p.P1063L	p.P1123L	NM_001271620.1	NP_001258549.1	Q2M1K9	ZN423_HUMAN			4	3421	-		all_cancers(37;0.0155)	1123					O94860|Q76N04|Q9NZ13	Missense_Mutation	SNP	ENST00000561648.1	37	c.3368C>T	CCDS32445.1	.	.	.	.	.	.	.	.	.	.	G	19.55	3.847900	0.71603	.	.	ENSG00000102935	ENST00000262383;ENST00000535559	T;T	0.08896	3.04;3.04	5.16	5.16	0.70880	Zinc finger, C2H2-like (1);Zinc finger, C2H2 (3);	0.051914	0.85682	D	0.000000	T	0.10937	0.0267	N	0.19112	0.55	0.58432	D	0.999999	P	0.35575	0.51	P	0.45343	0.477	T	0.40175	-0.9577	9	.	.	.	-29.9988	18.669	0.91504	0.0:0.0:1.0:0.0	.	1123	Q2M1K9	ZN423_HUMAN	L	1123;1006	ENSP00000262383:P1123L;ENSP00000442321:P1006L	.	P	-	2	0	ZNF423	48227196	1.000000	0.71417	1.000000	0.80357	0.939000	0.58152	7.462000	0.80851	2.404000	0.81709	0.561000	0.74099	CCC		0.716	ZNF423-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000423258.1	NM_015069		29	71	0	0	0	1	0	29	71				
MMP20	9313	broad.mit.edu	37	11	102477342	102477342	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:102477342G>T	ENST00000260228.2	-	6	889	c.877C>A	c.(877-879)Cct>Act	p.P293T	MMP20_ENST00000544938.1_5'UTR|RP11-817J15.2_ENST00000542119.1_RNA|RP11-817J15.2_ENST00000544115.1_RNA	NM_004771.3	NP_004762.2	Q9NPA2	MMP25_HUMAN	matrix metallopeptidase 20	314					hard palate development (GO:0060022)|inflammatory response (GO:0006954)|proteolysis (GO:0006508)	anchored component of membrane (GO:0031225)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)|proteinaceous extracellular matrix (GO:0005578)	calcium ion binding (GO:0005509)|metalloendopeptidase activity (GO:0004222)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)	Marimastat(DB00786)	CAGAGGTCAGGGATGGATGGC	0.552																																						ENST00000260228.2																			0				endometrium(1)|kidney(4)|large_intestine(3)|lung(14)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	27						c.(877-879)Cct>Act		matrix metallopeptidase 20							126.0	115.0	119.0					11																	102477342		2203	4299	6502	SO:0001583	missense	9313				proteolysis|regulation of enamel mineralization	extracellular space|proteinaceous extracellular matrix	calcium ion binding|metalloendopeptidase activity|protein binding|zinc ion binding	g.chr11:102477342G>T	Y12779	CCDS8318.1	11q22.3	2008-05-22	2008-05-22			ENSG00000137674			7167	protein-coding gene	gene with protein product	"""enamelysin"""	604629	"""matrix metalloproteinase 20 (enamelysin)"""			9398237	Standard	NM_004771		Approved		uc001phc.3	O60882		ENST00000260228.2:c.877C>A	11.37:g.102477342G>T	ENSP00000260228:p.Pro293Thr					MMP20_ENST00000544938.1_5'UTR	p.P293T	NM_004771.3	NP_004762.2	O60882	MMP20_HUMAN	Epithelial(9;0.0216)|Lung(13;0.0711)|all cancers(10;0.0889)|LUSC - Lung squamous cell carcinoma(19;0.13)	BRCA - Breast invasive adenocarcinoma(274;0.0161)	6	889	-	all_cancers(8;8.95e-05)|all_epithelial(12;0.00227)|Lung NSC(15;0.139)	Acute lymphoblastic leukemia(157;0.000967)|all_hematologic(158;0.0033)	293					D3DUA8|Q9H3Q0	Missense_Mutation	SNP	ENST00000260228.2	37	c.877C>A	CCDS8318.1	.	.	.	.	.	.	.	.	.	.	G	14.94	2.685201	0.47991	.	.	ENSG00000137674	ENST00000260228	T	0.17054	2.3	5.19	5.19	0.71726	Hemopexin/matrixin (2);	0.237373	0.42294	D	0.000729	T	0.39253	0.1071	M	0.82323	2.585	0.49389	D	0.999781	D	0.67145	0.996	P	0.54856	0.762	T	0.35919	-0.9769	10	0.62326	D	0.03	.	16.6834	0.85298	0.0:0.0:1.0:0.0	.	293	O60882	MMP20_HUMAN	T	293	ENSP00000260228:P293T	ENSP00000260228:P293T	P	-	1	0	MMP20	101982552	1.000000	0.71417	0.327000	0.25402	0.185000	0.23345	5.345000	0.65987	2.686000	0.91538	0.650000	0.86243	CCT		0.552	MMP20-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398012.1			16	47	1	0	2.23348e-06	1	2.3685e-06	16	47				
GLTPD2	388323	broad.mit.edu	37	17	4692356	4692356	+	Nonsense_Mutation	SNP	C	C	G	rs374396527		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:4692356C>G	ENST00000331264.7	+	1	103	c.50C>G	c.(49-51)tCa>tGa	p.S17*	VMO1_ENST00000416307.2_5'Flank|VMO1_ENST00000441199.2_5'Flank|VMO1_ENST00000354194.4_5'Flank|VMO1_ENST00000328739.5_5'Flank	NM_001014985.2	NP_001014985	A6NH11	GLTD2_HUMAN	glycolipid transfer protein domain containing 2	17						cytoplasm (GO:0005737)	glycolipid binding (GO:0051861)|glycolipid transporter activity (GO:0017089)	p.S17L(1)		endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)	4						TTCAGCCACTCAATTCCTCTC	0.662																																						ENST00000331264.7																			1	Substitution - Missense(1)	p.S17L(1)	lung(1)	endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(1)	4						c.(49-51)tCa>tGa		glycolipid transfer protein domain containing 2							55.0	45.0	49.0					17																	4692356		2203	4300	6503	SO:0001587	stop_gained	388323							g.chr17:4692356C>G	BC029290	CCDS32534.1	17p13.2	2007-12-19				ENSG00000182327			33756	protein-coding gene	gene with protein product							Standard	NM_001014985		Approved		uc002fza.2	A6NH11		ENST00000331264.7:c.50C>G	17.37:g.4692356C>G	ENSP00000328070:p.Ser17*						p.S17*	NM_001014985.2	NP_001014985.2					1	103	+								A7E2T2	Nonsense_Mutation	SNP	ENST00000331264.7	37	c.50C>G	CCDS32534.1	.	.	.	.	.	.	.	.	.	.	C	19.09	3.760135	0.69763	.	.	ENSG00000182327	ENST00000331264	.	.	.	4.24	3.27	0.37495	.	0.411376	0.24222	N	0.040427	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.72032	D	0.01	.	8.1476	0.31121	0.0:0.889:0.0:0.111	.	.	.	.	X	17	.	ENSP00000328070:S17X	S	+	2	0	GLTPD2	4639096	0.000000	0.05858	0.002000	0.10522	0.009000	0.06853	0.181000	0.16880	1.148000	0.42385	0.561000	0.74099	TCA		0.662	GLTPD2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439781.1	NM_001014985		15	30	0	0	0	1	0	15	30				
AP4B1	10717	broad.mit.edu	37	1	114437899	114437899	+	Missense_Mutation	SNP	C	C	T	rs528147130		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:114437899C>T	ENST00000369569.1	-	10	2288	c.2008G>A	c.(2008-2010)Gca>Aca	p.A670T	AP4B1_ENST00000256658.4_Missense_Mutation_p.A670T|AP4B1_ENST00000462591.1_5'UTR|AP4B1_ENST00000369567.1_Missense_Mutation_p.A502T|AP4B1-AS1_ENST00000419536.1_RNA	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN	adaptor-related protein complex 4, beta 1 subunit	670					intracellular protein transport (GO:0006886)|vesicle-mediated transport (GO:0016192)	clathrin adaptor complex (GO:0030131)|coated pit (GO:0005905)|trans-Golgi network (GO:0005802)	protein transporter activity (GO:0008565)|transporter activity (GO:0005215)			breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)		CTACTCATTGCGATGGTCTGG	0.502													C|||	1	0.000199681	0.0	0.0	5008	,	,		19547	0.0		0.001	False		,,,				2504	0.0					ENST00000369569.1																			0				breast(2)|central_nervous_system(1)|endometrium(4)|kidney(1)|large_intestine(2)|lung(9)|ovary(3)|prostate(3)	25						c.(2008-2010)Gca>Aca		adaptor-related protein complex 4, beta 1 subunit							91.0	89.0	90.0					1																	114437899		2203	4300	6503	SO:0001583	missense	10717				intracellular protein transport|vesicle-mediated transport	clathrin adaptor complex|soluble fraction|trans-Golgi network	protein binding|protein transporter activity	g.chr1:114437899C>T	AF092094	CCDS865.1	1p13.2	2012-03-30			ENSG00000134262	ENSG00000134262			572	protein-coding gene	gene with protein product	"""beta 4 subunit of AP-4"""	607245	"""spastic paraplegia 47"""	SPG47		10066790	Standard	NM_006594		Approved	BETA-4	uc001eeb.3	Q9Y6B7	OTTHUMG00000011943	ENST00000369569.1:c.2008G>A	1.37:g.114437899C>T	ENSP00000358582:p.Ala670Thr					AP4B1_ENST00000462591.1_5'UTR|AP4B1-AS1_ENST00000419536.1_RNA|AP4B1_ENST00000369567.1_Missense_Mutation_p.A502T|AP4B1_ENST00000256658.4_Missense_Mutation_p.A670T	p.A670T	NM_001253852.1	NP_001240781.1	Q9Y6B7	AP4B1_HUMAN		Lung(183;0.0234)|Colorectal(144;0.0686)|all cancers(265;0.0792)|Epithelial(280;0.0866)|COAD - Colon adenocarcinoma(174;0.111)|LUSC - Lung squamous cell carcinoma(189;0.133)	10	2288	-	Lung SC(450;0.184)	all_cancers(81;4.5e-08)|all_epithelial(167;1.1e-07)|all_lung(203;1.53e-05)|Lung NSC(69;2.76e-05)	670					B7Z4X3|Q59EJ4|Q96CL6	Missense_Mutation	SNP	ENST00000369569.1	37	c.2008G>A	CCDS865.1	.	.	.	.	.	.	.	.	.	.	C	25.3	4.626608	0.87560	.	.	ENSG00000134262	ENST00000369567;ENST00000369569;ENST00000256658	T;T;T	0.78816	-1.21;-1.1;-1.1	5.53	5.53	0.82687	Clathrin adaptor, beta-adaptin, appendage, C-terminal subdomain (1);Beta2-adaptin/TATA-box binding, C-terminal (1);	0.000000	0.85682	D	0.000000	T	0.80618	0.4657	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.91635	0.99;0.999	T	0.82671	-0.0342	10	0.87932	D	0	.	18.0106	0.89222	0.0:1.0:0.0:0.0	.	502;670	B1ALD0;Q9Y6B7	.;AP4B1_HUMAN	T	502;670;670	ENSP00000358580:A502T;ENSP00000358582:A670T;ENSP00000256658:A670T	ENSP00000256658:A670T	A	-	1	0	AP4B1	114239422	1.000000	0.71417	0.795000	0.32087	0.782000	0.44232	6.070000	0.71220	2.758000	0.94735	0.563000	0.77884	GCA		0.502	AP4B1-009	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000033037.1	NM_006594		34	51	0	0	0	1	0	34	51				
DENND4B	9909	broad.mit.edu	37	1	153912155	153912155	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:153912155G>C	ENST00000361217.4	-	12	2147	c.1729C>G	c.(1729-1731)Ctg>Gtg	p.L577V		NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	DENN/MADD domain containing 4B	577	dDENN. {ECO:0000255|PROSITE- ProRule:PRU00306}.				positive regulation of Rab GTPase activity (GO:0032851)|regulation of Rab protein signal transduction (GO:0032483)	Golgi apparatus (GO:0005794)|nucleus (GO:0005634)	Rab guanyl-nucleotide exchange factor activity (GO:0017112)			NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		LUSC - Lung squamous cell carcinoma(543;0.151)			CCCTTGAGCAGACAGGCCATG	0.622																																						ENST00000361217.4																			0				NS(1)|breast(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(6)|lung(9)|ovary(1)|prostate(5)|skin(2)|urinary_tract(1)	36						c.(1729-1731)Ctg>Gtg		DENN/MADD domain containing 4B							90.0	104.0	99.0					1																	153912155		2009	4154	6163	SO:0001583	missense	9909							g.chr1:153912155G>C	AB007945	CCDS44228.1	1q21.3	2012-10-03	2006-01-27	2006-01-27	ENSG00000198837	ENSG00000198837		"""DENN/MADD domain containing"""	29044	protein-coding gene	gene with protein product			"""KIAA0476"""	KIAA0476		9455484, 12906859	Standard	NM_014856		Approved		uc001fdd.1	O75064	OTTHUMG00000037157	ENST00000361217.4:c.1729C>G	1.37:g.153912155G>C	ENSP00000354597:p.Leu577Val						p.L577V	NM_014856.2	NP_055671.2	O75064	DEN4B_HUMAN	LUSC - Lung squamous cell carcinoma(543;0.151)		12	2147	-	all_lung(78;2.89e-32)|Lung NSC(65;2.27e-30)|Hepatocellular(266;0.0877)|Melanoma(130;0.199)		577			dDENN.		Q5T4K0	Missense_Mutation	SNP	ENST00000361217.4	37	c.1729C>G	CCDS44228.1	.	.	.	.	.	.	.	.	.	.	G	14.20	2.464869	0.43839	.	.	ENSG00000198837	ENST00000361217;ENST00000368646	T;T	0.55413	0.52;0.52	5.14	4.23	0.50019	dDENN (3);	0.232613	0.32753	N	0.005695	T	0.35799	0.0944	L	0.38175	1.15	0.47905	D	0.999543	P	0.52316	0.952	P	0.51266	0.664	T	0.29366	-1.0014	10	0.46703	T	0.11	-12.4258	7.7703	0.29004	0.0833:0.0:0.7554:0.1613	.	577	O75064	DEN4B_HUMAN	V	577;588	ENSP00000354597:L577V;ENSP00000357635:L588V	ENSP00000354597:L577V	L	-	1	2	DENND4B	152178779	0.475000	0.25894	0.975000	0.42487	0.991000	0.79684	0.747000	0.26290	1.405000	0.46838	0.462000	0.41574	CTG		0.622	DENND4B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000090278.2	XM_375806		57	124	0	0	0	1	0	57	124				
CSMD3	114788	broad.mit.edu	37	8	113301669	113301669	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr8:113301669G>A	ENST00000297405.5	-	57	9317	c.9073C>T	c.(9073-9075)Cgt>Tgt	p.R3025C	CSMD3_ENST00000352409.3_Missense_Mutation_p.R2955C|CSMD3_ENST00000455883.2_Missense_Mutation_p.R2856C|CSMD3_ENST00000343508.3_Missense_Mutation_p.R2985C	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN	CUB and Sushi multiple domains 3	3025	Sushi 21. {ECO:0000255|PROSITE- ProRule:PRU00302}.					integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						AAAAGGGAACGCTTTCCTGTG	0.468										HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)																												ENST00000297405.5																			0				breast(7)|central_nervous_system(6)|endometrium(44)|haematopoietic_and_lymphoid_tissue(8)|kidney(36)|large_intestine(72)|liver(5)|lung(389)|ovary(24)|prostate(6)|skin(23)|upper_aerodigestive_tract(19)|urinary_tract(7)	646						c.(9073-9075)Cgt>Tgt		CUB and Sushi multiple domains 3							118.0	106.0	110.0					8																	113301669		2203	4300	6503	SO:0001583	missense	114788					integral to membrane|plasma membrane		g.chr8:113301669G>A	AY210419	CCDS6315.1, CCDS6316.2, CCDS6317.1	8q23.3	2007-01-06			ENSG00000164796	ENSG00000164796			19291	protein-coding gene	gene with protein product		608399					Standard	NM_052900		Approved		uc003ynu.3	Q7Z407	OTTHUMG00000157027	ENST00000297405.5:c.9073C>T	8.37:g.113301669G>A	ENSP00000297405:p.Arg3025Cys	HNSCC(6;0.00088)|TCGA Ovarian(7;0.080)				CSMD3_ENST00000343508.3_Missense_Mutation_p.R2985C|CSMD3_ENST00000352409.3_Missense_Mutation_p.R2955C|CSMD3_ENST00000455883.2_Missense_Mutation_p.R2856C	p.R3025C	NM_198123.1	NP_937756.1	Q7Z407	CSMD3_HUMAN			57	9317	-			3025			Sushi 21.		Q96PZ3	Missense_Mutation	SNP	ENST00000297405.5	37	c.9073C>T	CCDS6315.1	.	.	.	.	.	.	.	.	.	.	G	21.8	4.208066	0.79240	.	.	ENSG00000164796	ENST00000343508;ENST00000297405;ENST00000339701;ENST00000455883;ENST00000352409	T;T;T;T;T	0.64260	-0.09;-0.09;-0.09;-0.09;-0.09	6.17	5.3	0.74995	Complement control module (2);Sushi/SCR/CCP (3);	0.080038	0.49916	D	0.000122	T	0.78916	0.4359	M	0.75447	2.3	0.58432	D	0.999996	D;D;D	0.89917	1.0;1.0;0.999	D;D;D	0.91635	0.997;0.999;0.962	T	0.81335	-0.0979	10	0.62326	D	0.03	.	15.4602	0.75349	0.066:0.0:0.934:0.0	.	2856;3025;2985	Q7Z407-3;Q7Z407;Q7Z407-2	.;CSMD3_HUMAN;.	C	2985;3025;2295;2856;2955	ENSP00000345799:R2985C;ENSP00000297405:R3025C;ENSP00000341558:R2295C;ENSP00000412263:R2856C;ENSP00000343124:R2955C	ENSP00000297405:R3025C	R	-	1	0	CSMD3	113370845	1.000000	0.71417	0.989000	0.46669	0.990000	0.78478	4.199000	0.58426	1.616000	0.50265	0.655000	0.94253	CGT		0.468	CSMD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000347141.1	NM_052900		17	40	0	0	0	1	0	17	40				
RGPD8	727851	broad.mit.edu	37	2	113127775	113127775	+	Missense_Mutation	SNP	G	G	C	rs370761877		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:113127775G>C	ENST00000302558.3	-	23	5469	c.5278C>G	c.(5278-5280)Cct>Gct	p.P1760A	RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	NM_001164463.1	NP_001157935.1	O14715	RGPD8_HUMAN	RANBP2-like and GRIP domain containing 8	1760				P -> A (in Ref. 3; CAI56757). {ECO:0000305}.	protein targeting to Golgi (GO:0000042)	nuclear pore (GO:0005643)	Ran GTPase binding (GO:0008536)	p.P1760A(12)		endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						GAACGGGAAGGATTTTCTTCC	0.308																																						ENST00000302558.3																			12	Substitution - Missense(12)	p.P1760A(12)	prostate(6)|urinary_tract(2)|endometrium(2)|kidney(2)	endometrium(4)|kidney(1)|lung(1)|prostate(3)|urinary_tract(1)	10						c.(5278-5280)Cct>Gct		RANBP2-like and GRIP domain containing 8							235.0	168.0	189.0					2																	113127775		686	1558	2244	SO:0001583	missense	727851							g.chr2:113127775G>C	AF012086	CCDS46394.1	2q13	2013-01-10	2005-12-20	2005-12-20	ENSG00000169629	ENSG00000169629		"""Tetratricopeptide (TTC) repeat domain containing"""	9849	protein-coding gene	gene with protein product		602752	"""RAN binding protein 2-like 1"""	RANBP2L1		9480752	Standard	NM_001164463		Approved	RanBP2alpha	uc002ths.2	O14715	OTTHUMG00000153289	ENST00000302558.3:c.5278C>G	2.37:g.113127775G>C	ENSP00000306637:p.Pro1760Ala					RGPD8_ENST00000409750.1_Missense_Mutation_p.P1620A	p.P1760A	NM_001164463.1	NP_001157935.1					23	5469	-								Q5CZA8	Missense_Mutation	SNP	ENST00000302558.3	37	c.5278C>G	CCDS46394.1	.	.	.	.	.	.	.	.	.	.	g	0.008	-1.892319	0.00522	.	.	ENSG00000169629	ENST00000302558;ENST00000409750	T;T	0.36520	1.25;1.25	0.719	0.719	0.18208	.	.	.	.	.	T	0.11239	0.0274	N	0.02011	-0.69	0.58432	D	0.999999	B	0.02656	0.0	B	0.01281	0.0	T	0.18650	-1.0330	9	0.10902	T	0.67	-6.3628	6.3935	0.21599	0.0:0.6881:0.3119:0.0	.	1760	O14715	RGPD8_HUMAN	A	1760;1620	ENSP00000306637:P1760A;ENSP00000386511:P1620A	ENSP00000306637:P1760A	P	-	1	0	RGPD8	112844246	0.746000	0.28272	0.842000	0.33263	0.015000	0.08874	0.243000	0.18106	-0.105000	0.12132	-1.123000	0.02005	CCT		0.308	RGPD8-006	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375951.1	XM_001722279		3	62	0	0	0	1	0	3	62				
CEP131	22994	broad.mit.edu	37	17	79193748	79193748	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:79193748C>T	ENST00000269392.4	-	2	356	c.109G>A	c.(109-111)Gcc>Acc	p.A37T	AZI1_ENST00000450824.2_Missense_Mutation_p.A37T|AZI1_ENST00000374782.3_Missense_Mutation_p.A37T|AZI1_ENST00000575907.1_Missense_Mutation_p.A37T	NM_014984.2	NP_055799.2	Q9UPN4	CP131_HUMAN		37					cell differentiation (GO:0030154)|G2/M transition of mitotic cell cycle (GO:0000086)|intraciliary transport involved in cilium morphogenesis (GO:0035735)|mitotic cell cycle (GO:0000278)|multicellular organismal development (GO:0007275)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular protein transport (GO:0090316)|regulation of centrosome duplication (GO:0010824)|spermatogenesis (GO:0007283)	BBSome (GO:0034464)|cell projection (GO:0042995)|centriolar satellite (GO:0034451)|centriole (GO:0005814)|centrosome (GO:0005813)|cytoplasmic vesicle (GO:0031410)|cytosol (GO:0005829)	protein homodimerization activity (GO:0042803)			breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36	all_neural(118;0.0804)|Melanoma(429;0.242)		BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)			TTGGTGGTGGCGGCACTGCCA	0.682																																						ENST00000269392.4																			0				breast(1)|central_nervous_system(3)|endometrium(6)|kidney(3)|large_intestine(1)|lung(12)|ovary(2)|prostate(3)|urinary_tract(5)	36						c.(109-111)Gcc>Acc		5-azacytidine induced 1							108.0	94.0	99.0					17																	79193748		2203	4300	6503	SO:0001583	missense	22994				cell differentiation|G2/M transition of mitotic cell cycle|multicellular organismal development|spermatogenesis	centrosome|cytosol|intracellular membrane-bounded organelle		g.chr17:79193748C>T																												ENST00000269392.4:c.109G>A	17.37:g.79193748C>T	ENSP00000269392:p.Ala37Thr					AZI1_ENST00000575907.1_Missense_Mutation_p.A37T|AZI1_ENST00000450824.2_Missense_Mutation_p.A37T|AZI1_ENST00000374782.3_Missense_Mutation_p.A37T	p.A37T	NM_014984.2	NP_055799.2	Q9UPN4	AZI1_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0272)|OV - Ovarian serous cystadenocarcinoma(97;0.117)		2	356	-	all_neural(118;0.0804)|Melanoma(429;0.242)		37					A6NHI8|B2RN11|Q96F50	Missense_Mutation	SNP	ENST00000269392.4	37	c.109G>A		.	.	.	.	.	.	.	.	.	.	C	8.280	0.815382	0.16607	.	.	ENSG00000141577	ENST00000450824;ENST00000374782;ENST00000269392	T;T;T	0.23348	1.91;1.91;1.91	3.72	1.18	0.20946	.	0.251961	0.33753	N	0.004593	T	0.12347	0.0300	N	0.22421	0.69	0.09310	N	1	P;P;P;P	0.42757	0.789;0.789;0.68;0.593	B;B;B;B	0.31337	0.128;0.128;0.119;0.09	T	0.17440	-1.0369	10	0.66056	D	0.02	-10.6203	8.3975	0.32566	0.5876:0.4124:0.0:0.0	.	37;37;37;37	B2RN10;Q9UPN4;Q9UPN4-3;Q9UPN4-2	.;AZI1_HUMAN;.;.	T	37	ENSP00000393583:A37T;ENSP00000363914:A37T;ENSP00000269392:A37T	ENSP00000269392:A37T	A	-	1	0	AZI1	76808343	0.998000	0.40836	0.100000	0.21137	0.057000	0.15508	1.347000	0.33975	0.441000	0.26529	-0.521000	0.04368	GCC		0.682	AZI1-001	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding	OTTHUMT00000256070.1			45	101	0	0	0	1	0	45	101				
FAM135A	57579	broad.mit.edu	37	6	71212388	71212388	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr6:71212388C>T	ENST00000418814.2	+	12	1537	c.923C>T	c.(922-924)gCg>gTg	p.A308V	FAM135A_ENST00000370479.3_Missense_Mutation_p.A291V|FAM135A_ENST00000505769.1_Missense_Mutation_p.A308V|FAM135A_ENST00000361499.3_Missense_Mutation_p.A308V|FAM135A_ENST00000505868.1_Missense_Mutation_p.A308V|FAM135A_ENST00000457062.2_Missense_Mutation_p.A291V	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN	family with sequence similarity 135, member A	308										breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						ATGAATCTTGCGCAACTTTGC	0.333																																						ENST00000418814.2																			0				breast(2)|central_nervous_system(2)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(7)|lung(12)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	38						c.(922-924)gCg>gTg		family with sequence similarity 135, member A							131.0	132.0	131.0					6																	71212388		2203	4300	6503	SO:0001583	missense	57579							g.chr6:71212388C>T	AK000183	CCDS34481.1, CCDS47448.1, CCDS55028.1	6q13	2008-10-30	2007-05-11	2007-05-11	ENSG00000082269	ENSG00000082269			21084	protein-coding gene	gene with protein product			"""KIAA1411"""	KIAA1411		10718198	Standard	NM_001105531		Approved	FLJ20176	uc003pfj.3	Q9P2D6	OTTHUMG00000014991	ENST00000418814.2:c.923C>T	6.37:g.71212388C>T	ENSP00000410768:p.Ala308Val					FAM135A_ENST00000361499.3_Missense_Mutation_p.A308V|FAM135A_ENST00000505868.1_Missense_Mutation_p.A308V|FAM135A_ENST00000370479.3_Missense_Mutation_p.A291V|FAM135A_ENST00000505769.1_Missense_Mutation_p.A308V|FAM135A_ENST00000457062.2_Missense_Mutation_p.A291V	p.A308V	NM_001105531.2|NM_001162529.1	NP_001099001.1|NP_001156001.1	Q9P2D6	F135A_HUMAN			12	1537	+			308					A2RRQ5|Q3C0H3|Q5JXK0|Q5JXK1|Q68DW0|Q6P081|Q9H0F2|Q9NU48|Q9NUQ5|Q9NXL5	Missense_Mutation	SNP	ENST00000418814.2	37	c.923C>T	CCDS55028.1	.	.	.	.	.	.	.	.	.	.	C	35	5.493098	0.96339	.	.	ENSG00000082269	ENST00000418814;ENST00000370479;ENST00000505769;ENST00000515323;ENST00000457062;ENST00000361499;ENST00000505868	D;D;D;D;D;D;D	0.87809	-2.3;-2.3;-2.3;-2.3;-2.3;-2.3;-2.3	5.77	5.77	0.91146	.	0.000000	0.85682	D	0.000000	D	0.93337	0.7876	M	0.81341	2.54	0.52099	D	0.999943	D;D;D;D;D;D	0.89917	1.0;1.0;0.995;1.0;1.0;1.0	D;D;P;D;D;D	0.91635	0.997;0.999;0.906;0.99;0.998;0.998	D	0.92458	0.5975	10	0.51188	T	0.08	.	19.9886	0.97358	0.0:1.0:0.0:0.0	.	65;308;308;308;308;291	Q5JXJ9;Q9P2D6-4;D6RC17;Q9P2D6;Q9P2D6-2;Q9P2D6-3	.;.;.;F135A_HUMAN;.;.	V	308;291;308;308;291;308;308	ENSP00000410768:A308V;ENSP00000359510:A291V;ENSP00000423785:A308V;ENSP00000422406:A308V;ENSP00000409201:A291V;ENSP00000354913:A308V;ENSP00000423307:A308V	ENSP00000354913:A308V	A	+	2	0	FAM135A	71269109	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	7.448000	0.80631	2.735000	0.93741	0.655000	0.94253	GCG		0.333	FAM135A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000041137.2	NM_020819		26	78	0	0	0	1	0	26	78				
DLG1	1739	broad.mit.edu	37	3	196817840	196817840	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr3:196817840C>A	ENST00000419354.1	-	16	1989	c.1703G>T	c.(1702-1704)aGt>aTt	p.S568I	DLG1_ENST00000392382.2_Missense_Mutation_p.S535I|DLG1_ENST00000314062.3_Missense_Mutation_p.S517I|DLG1_ENST00000452595.1_Missense_Mutation_p.S452I|DLG1_ENST00000443183.1_Missense_Mutation_p.S452I|DLG1_ENST00000448528.2_Missense_Mutation_p.S568I|DLG1_ENST00000422288.1_Missense_Mutation_p.S517I|DLG1_ENST00000450955.1_Missense_Mutation_p.S535I|DLG1_ENST00000346964.2_Missense_Mutation_p.S568I|DLG1_ENST00000357674.4_Missense_Mutation_p.S535I			Q12959	DLG1_HUMAN	discs, large homolog 1 (Drosophila)	568					actin filament organization (GO:0007015)|activation of protein kinase activity (GO:0032147)|amyloid precursor protein metabolic process (GO:0042982)|axon guidance (GO:0007411)|branching involved in ureteric bud morphogenesis (GO:0001658)|cortical actin cytoskeleton organization (GO:0030866)|dephosphorylation (GO:0016311)|embryonic skeletal system morphogenesis (GO:0048704)|endothelial cell proliferation (GO:0001935)|establishment or maintenance of cell polarity (GO:0007163)|hard palate development (GO:0060022)|immunological synapse formation (GO:0001771)|lens development in camera-type eye (GO:0002088)|membrane raft organization (GO:0031579)|mitotic cell cycle checkpoint (GO:0007093)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of mitotic cell cycle (GO:0045930)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of T cell proliferation (GO:0042130)|nucleotide phosphorylation (GO:0046939)|peristalsis (GO:0030432)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of cell proliferation (GO:0008284)|positive regulation of establishment of protein localization to plasma membrane (GO:0090004)|positive regulation of potassium ion transport (GO:0043268)|protein localization to plasma membrane (GO:0072659)|regulation of membrane potential (GO:0042391)|regulation of myelination (GO:0031641)|regulation of sodium ion transmembrane transport (GO:1902305)|reproductive structure development (GO:0048608)|single organismal cell-cell adhesion (GO:0016337)|smooth muscle tissue development (GO:0048745)|synaptic transmission (GO:0007268)|T cell activation (GO:0042110)|T cell cytokine production (GO:0002369)|tight junction assembly (GO:0070830)|viral process (GO:0016032)	basal lamina (GO:0005605)|basolateral plasma membrane (GO:0016323)|cell junction (GO:0030054)|cell projection membrane (GO:0031253)|cell-cell junction (GO:0005911)|cytoplasm (GO:0005737)|cytoplasmic side of plasma membrane (GO:0009898)|cytosol (GO:0005829)|endoplasmic reticulum (GO:0005783)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|immunological synapse (GO:0001772)|intercalated disc (GO:0014704)|lateral loop (GO:0043219)|lateral plasma membrane (GO:0016328)|membrane raft (GO:0045121)|microtubule (GO:0005874)|MPP7-DLG1-LIN7 complex (GO:0097025)|myelin sheath abaxonal region (GO:0035748)|neuromuscular junction (GO:0031594)|node of Ranvier (GO:0033268)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|postsynaptic density (GO:0014069)|postsynaptic membrane (GO:0045211)|tight junction (GO:0005923)	cytoskeletal protein binding (GO:0008092)|guanylate kinase activity (GO:0004385)|ion channel binding (GO:0044325)|L27 domain binding (GO:0097016)|mitogen-activated protein kinase kinase binding (GO:0031434)|phosphatase binding (GO:0019902)|phosphoprotein phosphatase activity (GO:0004721)|potassium channel regulator activity (GO:0015459)|protein C-terminus binding (GO:0008022)|protein kinase binding (GO:0019901)			breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)		TGAACTAATACTACTATTCAT	0.318																																						ENST00000346964.2																			0				breast(2)|endometrium(1)|kidney(3)|large_intestine(4)|liver(1)|lung(9)|ovary(3)|prostate(1)|skin(1)|urinary_tract(1)	26						c.(1702-1704)aGt>aTt		discs, large homolog 1 (Drosophila)							122.0	116.0	118.0					3																	196817840		2203	4300	6503	SO:0001583	missense	1739				actin filament organization|axon guidance|cell-cell adhesion|cortical actin cytoskeleton organization|endothelial cell proliferation|establishment or maintenance of cell polarity|interspecies interaction between organisms|mitotic cell cycle G1/S transition checkpoint|negative regulation of mitotic cell cycle|protein localization in plasma membrane|synaptic transmission|tight junction assembly	basolateral plasma membrane|cytosol|endoplasmic reticulum membrane|immunological synapse|MPP7-DLG1-LIN7 complex|nucleus|postsynaptic density|postsynaptic membrane|sarcolemma|tight junction	cytoskeletal protein binding|guanylate kinase activity|L27 domain binding|phosphatase binding|phosphoprotein phosphatase activity|potassium channel regulator activity|protein binding|protein C-terminus binding|protein kinase binding	g.chr3:196817840C>A	U13897	CCDS3327.1, CCDS43194.1, CCDS56300.1, CCDS56301.1, CCDS75072.1	3q29	2008-12-15	2001-11-28		ENSG00000075711	ENSG00000075711			2900	protein-coding gene	gene with protein product	"""discs large homolog 1"", ""presynaptic protein SAP97"", ""synapse-associated protein 97"""	601014	"""discs, large (Drosophila) homolog 1"""			7937897, 8825652	Standard	NM_004087		Approved	SAP97, SAP-97, hdlg, DLGH1, dJ1061C18.1.1	uc003fxn.4	Q12959	OTTHUMG00000047972	ENST00000419354.1:c.1703G>T	3.37:g.196817840C>A	ENSP00000407531:p.Ser568Ile					DLG1_ENST00000448528.2_Missense_Mutation_p.S568I|DLG1_ENST00000443183.1_Missense_Mutation_p.S452I|DLG1_ENST00000422288.1_Missense_Mutation_p.S517I|DLG1_ENST00000419354.1_Missense_Mutation_p.S568I|DLG1_ENST00000452595.1_Missense_Mutation_p.S452I|DLG1_ENST00000392382.2_Missense_Mutation_p.S535I|DLG1_ENST00000450955.1_Missense_Mutation_p.S535I|DLG1_ENST00000357674.4_Missense_Mutation_p.S535I|DLG1_ENST00000314062.3_Missense_Mutation_p.S517I	p.S568I	NM_004087.2	NP_004078.2	Q12959	DLG1_HUMAN	Epithelial(36;3.23e-24)|all cancers(36;2.15e-22)|OV - Ovarian serous cystadenocarcinoma(49;3.88e-19)|LUSC - Lung squamous cell carcinoma(58;1.51e-06)|Lung(62;1.95e-06)	GBM - Glioblastoma multiforme(46;0.0148)	16	1892	-	all_cancers(143;6.22e-10)|Ovarian(172;0.0418)|Breast(254;0.0589)	Lung NSC(153;0.133)	568					A5YKK7|B4DGU1|B4DGZ8|B7ZMM0|B9EIQ5|D3DXB8|D3DXB9|E7EWL7|E9PG21|Q12958	Missense_Mutation	SNP	ENST00000419354.1	37	c.1703G>T	CCDS43194.1	.	.	.	.	.	.	.	.	.	.	C	23.4	4.412058	0.83340	.	.	ENSG00000075711	ENST00000346964;ENST00000359922;ENST00000357674;ENST00000381807;ENST00000314062;ENST00000419354;ENST00000452595;ENST00000422288;ENST00000448528;ENST00000443183;ENST00000392382;ENST00000450955	D;D;D;D;D;D;D;D;D;D	0.83335	-1.71;-1.71;-1.71;-1.71;-1.71;-1.71;-1.71;-1.71;-1.71;-1.71	5.64	5.64	0.86602	Src homology-3 domain (1);	0.000000	0.85682	D	0.000000	D	0.90590	0.7050	M	0.65498	2.005	0.80722	D	1	D;D;D;D;D;D	0.89917	0.999;0.969;0.998;0.999;0.998;1.0	D;P;D;D;D;D	0.83275	0.981;0.663;0.949;0.977;0.957;0.996	D	0.90981	0.4827	10	0.72032	D	0.01	.	18.6893	0.91577	0.0:1.0:0.0:0.0	.	535;452;452;535;568;568	Q12959-4;E9PG21;E7EWL7;Q12959-3;Q12959;Q12959-2	.;.;.;.;DLG1_HUMAN;.	I	568;568;535;568;517;568;452;517;568;452;535;535	ENSP00000345731:S568I;ENSP00000350303:S535I;ENSP00000321087:S517I;ENSP00000407531:S568I;ENSP00000398939:S452I;ENSP00000413238:S517I;ENSP00000391732:S568I;ENSP00000396658:S452I;ENSP00000376187:S535I;ENSP00000411278:S535I	ENSP00000321087:S517I	S	-	2	0	DLG1	198302237	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.776000	0.85560	2.637000	0.89404	0.563000	0.77884	AGT		0.318	DLG1-008	KNOWN	alternative_5_UTR|basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000258170.2	NM_004087		28	60	1	0	4.2108e-06	1	4.45764e-06	28	60				
LRRC14	9684	broad.mit.edu	37	8	145745914	145745914	+	Missense_Mutation	SNP	C	C	T	rs148279627		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr8:145745914C>T	ENST00000292524.1	+	3	768	c.622C>T	c.(622-624)Cgc>Tgc	p.R208C	RECQL4_ENST00000532237.1_5'Flank|LRRC14_ENST00000529022.1_Missense_Mutation_p.R208C|RECQL4_ENST00000428558.2_5'Flank	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	leucine rich repeat containing 14	208										endometrium(1)|lung(3)|prostate(1)	5	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			CCTGCCCATGCGCAACACTGT	0.682																																						ENST00000292524.1																			0				endometrium(1)|lung(3)|prostate(1)	5						c.(622-624)Cgc>Tgc		leucine rich repeat containing 14		C	CYS/ARG	2,4400	4.2+/-10.8	0,2,2199	57.0	61.0	60.0		622	3.1	1.0	8	dbSNP_134	60	1,8593		0,1,4296	no	missense	LRRC14	NM_014665.2	180	0,3,6495	TT,TC,CC		0.0116,0.0454,0.0231	probably-damaging	208/494	145745914	3,12993	2201	4297	6498	SO:0001583	missense	9684							g.chr8:145745914C>T	BC011377	CCDS6432.1	8q24.3	2012-08-20			ENSG00000160959	ENSG00000160959			20419	protein-coding gene	gene with protein product						7584026	Standard	NM_001272036		Approved	KIAA0014, LRRC14A	uc003zdk.3	Q15048	OTTHUMG00000165179	ENST00000292524.1:c.622C>T	8.37:g.145745914C>T	ENSP00000292524:p.Arg208Cys					LRRC14_ENST00000529022.1_Missense_Mutation_p.R208C	p.R208C	NM_001272036.1|NM_014665.2	NP_001258965.1|NP_055480.1	Q15048	LRC14_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		3	768	+	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		208					A8K0A8|D3DWM8	Missense_Mutation	SNP	ENST00000292524.1	37	c.622C>T	CCDS6432.1	.	.	.	.	.	.	.	.	.	.	C	13.35	2.211197	0.39102	4.54E-4	1.16E-4	ENSG00000160959	ENST00000527730;ENST00000529022;ENST00000292524	T;T;T	0.54279	0.58;0.58;0.58	4.04	3.14	0.36123	.	0.365309	0.28612	N	0.014727	T	0.38585	0.1046	L	0.38175	1.15	0.48762	D	0.999709	B	0.26577	0.153	B	0.12837	0.008	T	0.38585	-0.9654	10	0.49607	T	0.09	.	9.7795	0.40640	0.0:0.8931:0.0:0.1069	.	208	Q15048	LRC14_HUMAN	C	208	ENSP00000436452:R208C;ENSP00000434768:R208C;ENSP00000292524:R208C	ENSP00000292524:R208C	R	+	1	0	LRRC14	145716722	0.004000	0.15560	1.000000	0.80357	0.957000	0.61999	1.184000	0.32053	2.073000	0.62155	0.462000	0.41574	CGC		0.682	LRRC14-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000382494.1	NM_014665		41	88	0	0	0	1	0	41	88				
RPRD2	23248	broad.mit.edu	37	1	150443199	150443199	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:150443199A>G	ENST00000369068.4	+	11	1779	c.1775A>G	c.(1774-1776)tAt>tGt	p.Y592C	RPRD2_ENST00000539519.1_Missense_Mutation_p.Y566C|RPRD2_ENST00000401000.4_Missense_Mutation_p.Y566C|RPRD2_ENST00000492220.1_3'UTR	NM_015203.3	NP_056018.2	Q5VT52	RPRD2_HUMAN	regulation of nuclear pre-mRNA domain containing 2	592	Ser-rich.					DNA-directed RNA polymerase II, holoenzyme (GO:0016591)				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						AGCTTCAACTATTCTCCTAAC	0.483																																						ENST00000401000.4																			0				central_nervous_system(1)|endometrium(2)|kidney(4)|large_intestine(4)|lung(20)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(2)	37						c.(1696-1698)tAt>tGt		regulation of nuclear pre-mRNA domain containing 2							68.0	64.0	65.0					1																	150443199		1847	4107	5954	SO:0001583	missense	23248						protein binding	g.chr1:150443199A>G	BX641025	CCDS44216.1, CCDS72907.1	1q21.2	2012-02-09	2008-08-15	2008-07-28	ENSG00000163125	ENSG00000163125			29039	protein-coding gene	gene with protein product		614695	"""KIAA0460"""	KIAA0460		22231121	Standard	XM_005245033		Approved	FLJ32145, HSPC099	uc009wlr.3	Q5VT52	OTTHUMG00000012808	ENST00000369068.4:c.1775A>G	1.37:g.150443199A>G	ENSP00000358064:p.Tyr592Cys					RPRD2_ENST00000539519.1_Missense_Mutation_p.Y566C|RPRD2_ENST00000369068.4_Missense_Mutation_p.Y592C|RPRD2_ENST00000492220.1_3'UTR	p.Y566C			Q5VT52	RPRD2_HUMAN			10	1762	+			592			Ser-rich.		A8K6N8|B3KPT1|B4E2Q6|O75048|Q5VT51|Q5VT53|Q6MZL4|Q86XD2|Q9P0D7	Missense_Mutation	SNP	ENST00000369068.4	37	c.1697A>G	CCDS44216.1	.	.	.	.	.	.	.	.	.	.	A	14.92	2.680573	0.47886	.	.	ENSG00000163125	ENST00000401000;ENST00000539519;ENST00000369068	T;T;T	0.60040	0.22;0.22;0.23	5.1	3.96	0.45880	.	0.309638	0.31697	N	0.007211	T	0.38214	0.1032	N	0.19112	0.55	0.37728	D	0.92516	D;D;D	0.58268	0.97;0.97;0.982	B;P;P	0.53593	0.439;0.541;0.73	T	0.43766	-0.9371	10	0.56958	D	0.05	-3.5598	9.4823	0.38908	0.7172:0.0:0.0:0.2828	.	566;592;566	B4E2Q6;Q5VT52;Q5VT52-3	.;RPRD2_HUMAN;.	C	566;566;592	ENSP00000383785:Y566C;ENSP00000445482:Y566C;ENSP00000358064:Y592C	ENSP00000358064:Y592C	Y	+	2	0	RPRD2	148709823	1.000000	0.71417	0.943000	0.38184	0.638000	0.38207	4.334000	0.59291	0.941000	0.37499	-0.691000	0.03719	TAT		0.483	RPRD2-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000035844.1	NM_015203		13	28	0	0	0	1	0	13	28				
SGSH	6448	broad.mit.edu	37	17	78184432	78184432	+	Missense_Mutation	SNP	C	C	T	rs377605690		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:78184432C>T	ENST00000326317.6	-	8	1414	c.1328G>A	c.(1327-1329)cGg>cAg	p.R443Q	SGSH_ENST00000534910.1_Missense_Mutation_p.R240Q	NM_000199.3	NP_000190.1	P51688	SPHM_HUMAN	N-sulfoglucosamine sulfohydrolase	443					carbohydrate metabolic process (GO:0005975)|glycosaminoglycan catabolic process (GO:0006027)|glycosaminoglycan metabolic process (GO:0030203)|proteoglycan metabolic process (GO:0006029)|small molecule metabolic process (GO:0044281)	extracellular vesicular exosome (GO:0070062)|lysosomal lumen (GO:0043202)	catalytic activity (GO:0003824)|metal ion binding (GO:0046872)|N-sulfoglucosamine sulfohydrolase activity (GO:0016250)|sulfuric ester hydrolase activity (GO:0008484)			central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10	all_neural(118;0.0952)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)			GTGGGGGTCCCGGCTCCGGTC	0.657																																						ENST00000326317.6																			0				central_nervous_system(1)|large_intestine(1)|lung(2)|ovary(1)|prostate(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	10						c.(1327-1329)cGg>cAg		N-sulfoglucosamine sulfohydrolase		C	GLN/ARG	1,4405	2.1+/-5.4	0,1,2202	46.0	50.0	48.0		1328	-9.8	0.0	17		48	0,8600		0,0,4300	no	missense	SGSH	NM_000199.3	43	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	443/503	78184432	1,13005	2203	4300	6503	SO:0001583	missense	6448				proteoglycan metabolic process	lysosome	metal ion binding|N-sulfoglucosamine sulfohydrolase activity|sulfuric ester hydrolase activity	g.chr17:78184432C>T	BC047318	CCDS11770.1	17q25.3	2011-11-08	2008-07-31			ENSG00000181523	3.10.1.1		10818	protein-coding gene	gene with protein product	"""sulfamidase"", ""mucopolysaccharidosis type IIIA"""	605270				7493035	Standard	NM_000199		Approved	HSS, MPS3A, SFMD	uc002jxz.4	P51688		ENST00000326317.6:c.1328G>A	17.37:g.78184432C>T	ENSP00000314606:p.Arg443Gln					SGSH_ENST00000534910.1_Missense_Mutation_p.R240Q	p.R443Q	NM_000199.3	NP_000190.1	P51688	SPHM_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.0908)		8	1414	-	all_neural(118;0.0952)		443					A8K5E2	Missense_Mutation	SNP	ENST00000326317.6	37	c.1328G>A	CCDS11770.1	.	.	.	.	.	.	.	.	.	.	C	3.871	-0.027827	0.07589	2.27E-4	0.0	ENSG00000181523	ENST00000326317;ENST00000534910	D;D	0.96459	-4.02;-4.02	4.89	-9.78	0.00496	Sulfatase (1);Alkaline-phosphatase-like, core domain (1);	1.096470	0.06893	N	0.804599	D	0.84428	0.5470	N	0.04787	-0.16	0.09310	N	1	B	0.11235	0.004	B	0.08055	0.003	T	0.76971	-0.2761	10	0.12766	T	0.61	-7.1902	3.7887	0.08710	0.16:0.275:0.0797:0.4853	.	443	P51688	SPHM_HUMAN	Q	443;240	ENSP00000314606:R443Q;ENSP00000437778:R240Q	ENSP00000314606:R443Q	R	-	2	0	SGSH	75799027	0.000000	0.05858	0.002000	0.10522	0.489000	0.33432	-3.607000	0.00416	-1.768000	0.01298	-1.022000	0.02435	CGG		0.657	SGSH-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437695.1	NM_000199		14	34	0	0	0	1	0	14	34				
TFPT	29844	broad.mit.edu	37	19	54611507	54611507	+	Silent	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:54611507C>T	ENST00000391759.1	-	5	873	c.468G>A	c.(466-468)gcG>gcA	p.A156A	NDUFA3_ENST00000391764.3_Intron|TFPT_ENST00000391758.1_Silent_p.A147A|TFPT_ENST00000391757.1_Missense_Mutation_p.R144Q	NM_013342.3	NP_037474.1	P0C1Z6	TFPT_HUMAN	TCF3 (E2A) fusion partner (in childhood Leukemia)	156					apoptotic signaling pathway (GO:0097190)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	actin filament (GO:0005884)|cytoplasm (GO:0005737)|Ino80 complex (GO:0031011)|nucleolus (GO:0005730)|nucleus (GO:0005634)	DNA binding (GO:0003677)	p.A156A(1)		large_intestine(2)|lung(2)	4	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)					GCTCATTCTCCGCATTGCCTG	0.682			T	TCF3	pre-B ALL																																	ENST00000391757.1				Dom	yes		19	19q13	29844	T	TCF3 (E2A) fusion partner (in childhood Leukemia)			L	TCF3		pre-B ALL		1	Substitution - coding silent(1)	p.A156A(1)	large_intestine(1)	large_intestine(2)|lung(2)	4						c.(430-432)cGg>cAg		TCF3 (E2A) fusion partner (in childhood Leukemia)							21.0	22.0	22.0					19																	54611507		2201	4299	6500	SO:0001819	synonymous_variant	29844				apoptosis|DNA recombination|DNA repair|induction of apoptosis|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|Ino80 complex	DNA binding|protein binding	g.chr19:54611507C>T	AF052052	CCDS12878.1	19q13	2011-07-06			ENSG00000105619	ENSG00000105619		"""INO80 complex subunits"""	13630	protein-coding gene	gene with protein product	"""amida, partner of the E2A"", ""INO80 complex subunit F"""	609519				10644725, 16230350	Standard	NM_013342		Approved	FB1, amida, INO80F	uc010yej.1	P0C1Z6	OTTHUMG00000065906	ENST00000391759.1:c.468G>A	19.37:g.54611507C>T						NDUFA3_ENST00000391764.3_Intron|TFPT_ENST00000391759.1_Silent_p.A156A|TFPT_ENST00000391758.1_Silent_p.A147A	p.R144Q			P0C1Z6	TFPT_HUMAN			5	449	-	all_cancers(19;0.004)|all_epithelial(19;0.00195)|all_lung(19;0.0193)|Lung NSC(19;0.0358)|Breast(117;0.137)|Ovarian(34;0.19)		144						Missense_Mutation	SNP	ENST00000391759.1	37	c.431G>A	CCDS12878.1	.	.	.	.	.	.	.	.	.	.	A	15.43	2.829829	0.50845	.	.	ENSG00000105619	ENST00000391757	.	.	.	5.04	-8.9	0.00782	.	.	.	.	.	T	0.11580	0.0282	.	.	.	0.09310	N	1	.	.	.	.	.	.	T	0.20338	-1.0278	5	0.14656	T	0.56	-2.9054	0.6714	0.00859	0.2531:0.2541:0.2718:0.221	.	.	.	.	Q	144	.	ENSP00000375637:R144Q	R	-	2	0	TFPT	59303319	0.000000	0.05858	0.043000	0.18650	0.282000	0.26991	-2.217000	0.01220	-2.003000	0.00962	-0.986000	0.02555	CGG		0.682	TFPT-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141215.4	NM_013342		5	14	0	0	0	1	0	5	14				
TMEM104	54868	broad.mit.edu	37	17	72832602	72832602	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:72832602G>T	ENST00000335464.5	+	10	1429	c.1267G>T	c.(1267-1269)Ggc>Tgc	p.G423C	TMEM104_ENST00000582773.1_Intron|TMEM104_ENST00000417024.2_Intron|TMEM104_ENST00000582330.1_Missense_Mutation_p.G423C	NM_017728.3	NP_060198.3	Q8NE00	TM104_HUMAN	transmembrane protein 104	423						integral component of membrane (GO:0016021)				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19	all_lung(278;0.23)					GTCCCTGGTGGGCATCACAGG	0.672																																						ENST00000335464.5																			0				NS(1)|cervix(1)|endometrium(1)|kidney(2)|large_intestine(8)|lung(5)|ovary(1)	19						c.(1267-1269)Ggc>Tgc		transmembrane protein 104							58.0	48.0	51.0					17																	72832602		2203	4300	6503	SO:0001583	missense	54868					integral to membrane		g.chr17:72832602G>T	AK074029	CCDS32723.1	17q25.1	2005-12-19				ENSG00000109066			25984	protein-coding gene	gene with protein product							Standard	NM_017728		Approved	FLJ20255, FLJ00021	uc002jls.4	Q8NE00		ENST00000335464.5:c.1267G>T	17.37:g.72832602G>T	ENSP00000334849:p.Gly423Cys					TMEM104_ENST00000417024.2_Intron|TMEM104_ENST00000582773.1_Intron|TMEM104_ENST00000582330.1_Missense_Mutation_p.G423C	p.G423C	NM_017728.3	NP_060198.3	Q8NE00	TM104_HUMAN			10	1429	+	all_lung(278;0.23)		423					Q8TEU1|Q9NT56|Q9NXH1	Missense_Mutation	SNP	ENST00000335464.5	37	c.1267G>T	CCDS32723.1	.	.	.	.	.	.	.	.	.	.	G	22.0	4.233039	0.79688	.	.	ENSG00000109066	ENST00000335464	T	0.02812	4.15	5.3	5.3	0.74995	.	0.093156	0.85682	D	0.000000	T	0.16811	0.0404	M	0.86953	2.85	0.58432	D	0.999996	D	0.76494	0.999	D	0.74674	0.984	T	0.00042	-1.2228	10	0.87932	D	0	-29.0294	12.6396	0.56702	0.0761:0.0:0.9239:0.0	.	423	Q8NE00	TM104_HUMAN	C	423	ENSP00000334849:G423C	ENSP00000334849:G423C	G	+	1	0	TMEM104	70344197	1.000000	0.71417	1.000000	0.80357	0.965000	0.64279	7.637000	0.83313	2.653000	0.90120	0.561000	0.74099	GGC		0.672	TMEM104-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000444442.1	NM_017728		23	63	1	0	1.10923e-09	1	1.21837e-09	23	63				
COL6A5	256076	broad.mit.edu	37	3	130095261	130095261	+	Silent	SNP	T	T	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr3:130095261T>C	ENST00000432398.2	+	3	743	c.249T>C	c.(247-249)caT>caC	p.H83H	COL6A5_ENST00000265379.6_Silent_p.H83H	NM_153264.5	NP_694996.5	A8TX70	CO6A5_HUMAN	collagen, type VI, alpha 5	83	Nonhelical region.|VWFA 1. {ECO:0000255|PROSITE- ProRule:PRU00219}.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						GTGAATTCCATCTGAGCACCT	0.498																																						ENST00000265379.6																			0				endometrium(6)|kidney(4)|large_intestine(8)|lung(19)|pancreas(2)|prostate(3)|stomach(1)|urinary_tract(1)	44						c.(247-249)caT>caC		collagen, type VI, alpha 5							118.0	98.0	104.0					3																	130095261		692	1591	2283	SO:0001819	synonymous_variant	256076				axon guidance|cell adhesion	collagen		g.chr3:130095261T>C	AK093199		3q21.3	2013-01-16	2010-05-24	2010-05-24	ENSG00000172752	ENSG00000172752		"""Collagens"""	26674	protein-coding gene	gene with protein product	"""von Willebrand factor A domain containing 4"""	611916	"""collagen, type XXIX, alpha 1"""	COL29A1		17850181	Standard	NM_153264		Approved	FLJ35880, VWA4	uc010htk.2	A8TX70	OTTHUMG00000159712	ENST00000432398.2:c.249T>C	3.37:g.130095261T>C						COL6A5_ENST00000432398.2_Silent_p.H83H	p.H83H			A8TX70	CO6A5_HUMAN			3	743	+			83			Nonhelical region.|VWFA 1.		A9J6L2|A9J6L4|A9J6L6|A9J6L7|A9J6M0|A9J6M1|A9J6M2|B5MEA7|Q6ZW26|Q8NA36	Silent	SNP	ENST00000432398.2	37	c.249T>C																																																																																					0.498	COL6A5-202	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_153264		9	17	0	0	0	1	0	9	17				
BAI2	576	broad.mit.edu	37	1	32206079	32206079	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:32206079G>A	ENST00000373658.3	-	12	2199	c.1858C>T	c.(1858-1860)Cgc>Tgc	p.R620C	BAI2_ENST00000398547.1_Missense_Mutation_p.R553C|BAI2_ENST00000373655.2_Missense_Mutation_p.R620C|BAI2_ENST00000398542.1_Missense_Mutation_p.R553C|BAI2_ENST00000398538.1_Missense_Mutation_p.R608C|BAI2_ENST00000440175.2_Missense_Mutation_p.R262C|BAI2_ENST00000398556.3_Missense_Mutation_p.R568C|BAI2_ENST00000527361.1_Missense_Mutation_p.R620C|BAI2_ENST00000257070.4_Missense_Mutation_p.R620C	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN	brain-specific angiogenesis inhibitor 2	620					G-protein coupled receptor signaling pathway (GO:0007186)|negative regulation of angiogenesis (GO:0016525)|neuropeptide signaling pathway (GO:0007218)|peripheral nervous system development (GO:0007422)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)			breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)		STAD - Stomach adenocarcinoma(196;0.0557)		TGCAGGCTGCGCACCACCTGC	0.607																																						ENST00000373658.3																			0				breast(5)|central_nervous_system(2)|endometrium(1)|large_intestine(7)|liver(2)|lung(24)|ovary(7)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)	55						c.(1858-1860)Cgc>Tgc		brain-specific angiogenesis inhibitor 2							29.0	29.0	29.0					1																	32206079		2202	4300	6502	SO:0001583	missense	576				negative regulation of angiogenesis|neuropeptide signaling pathway	integral to membrane|plasma membrane	G-protein coupled receptor activity	g.chr1:32206079G>A	AB005298	CCDS72746.1, CCDS72747.1	1p35	2014-08-08			ENSG00000121753	ENSG00000121753		"""-"", ""GPCR / Class B : Orphans"""	944	protein-coding gene	gene with protein product		602683				9533023	Standard	XM_006710783		Approved		uc001btn.3	O60241	OTTHUMG00000003885	ENST00000373658.3:c.1858C>T	1.37:g.32206079G>A	ENSP00000362762:p.Arg620Cys					BAI2_ENST00000440175.2_Missense_Mutation_p.R262C|BAI2_ENST00000257070.4_Missense_Mutation_p.R620C|BAI2_ENST00000398538.1_Missense_Mutation_p.R608C|BAI2_ENST00000398547.1_Missense_Mutation_p.R553C|BAI2_ENST00000398556.3_Missense_Mutation_p.R568C|BAI2_ENST00000373655.2_Missense_Mutation_p.R620C|BAI2_ENST00000398542.1_Missense_Mutation_p.R553C|BAI2_ENST00000527361.1_Missense_Mutation_p.R620C	p.R620C	NM_001703.2	NP_001694.2	O60241	BAI2_HUMAN		STAD - Stomach adenocarcinoma(196;0.0557)	12	2199	-		Myeloproliferative disorder(586;0.0255)|Ovarian(437;0.0606)|all_neural(195;0.0837)|Breast(348;0.174)	620					B9EGK9|Q5T6K0|Q8NGW8|Q96GZ9	Missense_Mutation	SNP	ENST00000373658.3	37	c.1858C>T	CCDS346.2	.	.	.	.	.	.	.	.	.	.	G	11.89	1.774377	0.31411	.	.	ENSG00000121753	ENST00000398556;ENST00000398547;ENST00000373658;ENST00000373655;ENST00000398542;ENST00000257070;ENST00000527361;ENST00000440175;ENST00000398538;ENST00000420125	T;T;T;T;T;T;T;T;T;T	0.13196	2.61;2.61;2.61;2.61;2.61;2.61;2.61;2.61;2.61;2.61	4.41	3.48	0.39840	Domain of unknown function DUF3497 (1);	0.000000	0.43110	D	0.000609	T	0.26011	0.0634	L	0.36672	1.1	0.46927	D	0.999257	D;D;D;D;D;D	0.89917	1.0;0.999;0.998;0.998;1.0;0.999	D;D;D;D;D;D	0.71870	0.975;0.94;0.935;0.935;0.975;0.964	T	0.02398	-1.1165	10	0.87932	D	0	.	13.6347	0.62215	0.0:0.1571:0.8429:0.0	.	620;608;262;553;620;620	O60241-4;O60241-3;B4DKC3;A2A3C1;O60241-2;O60241	.;.;.;.;.;BAI2_HUMAN	C	568;553;620;620;553;620;620;262;608;558	ENSP00000381564:R568C;ENSP00000381555:R553C;ENSP00000362762:R620C;ENSP00000362759:R620C;ENSP00000381550:R553C;ENSP00000257070:R620C;ENSP00000435397:R620C;ENSP00000391071:R262C;ENSP00000381548:R608C;ENSP00000410921:R558C	ENSP00000257070:R620C	R	-	1	0	BAI2	31978666	1.000000	0.71417	1.000000	0.80357	0.002000	0.02628	2.993000	0.49425	1.213000	0.43380	-0.311000	0.09066	CGC		0.607	BAI2-015	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000381838.1	NM_001703		4	22	0	0	0	1	0	4	22				
LONRF2	164832	broad.mit.edu	37	2	100916256	100916256	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:100916256G>A	ENST00000393437.3	-	5	1829	c.1190C>T	c.(1189-1191)gCt>gTt	p.A397V	LONRF2_ENST00000409647.1_Missense_Mutation_p.A154V	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN	LON peptidase N-terminal domain and ring finger 2	397							ATP-dependent peptidase activity (GO:0004176)|zinc ion binding (GO:0008270)			NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						CTTTAAGCCAGCGCTGGGTGC	0.448																																						ENST00000393437.3																			0				NS(1)|breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|large_intestine(8)|lung(11)|prostate(1)|skin(1)|stomach(1)|upper_aerodigestive_tract(2)	34						c.(1189-1191)gCt>gTt		LON peptidase N-terminal domain and ring finger 2							94.0	91.0	92.0					2																	100916256		2203	4300	6503	SO:0001583	missense	164832				proteolysis		ATP-dependent peptidase activity|zinc ion binding	g.chr2:100916256G>A	AK127206	CCDS2046.2	2q11.2	2013-01-09			ENSG00000170500	ENSG00000170500		"""RING-type (C3HC4) zinc fingers"""	24788	protein-coding gene	gene with protein product							Standard	NM_198461		Approved	FLJ45273, RNF192	uc002tal.4	Q1L5Z9	OTTHUMG00000130668	ENST00000393437.3:c.1190C>T	2.37:g.100916256G>A	ENSP00000377086:p.Ala397Val					LONRF2_ENST00000409647.1_Missense_Mutation_p.A154V	p.A397V	NM_198461.3	NP_940863.3	Q1L5Z9	LONF2_HUMAN			5	1829	-			397					B9A006|Q6ZSR4	Missense_Mutation	SNP	ENST00000393437.3	37	c.1190C>T	CCDS2046.2	.	.	.	.	.	.	.	.	.	.	G	3.336	-0.135676	0.06711	.	.	ENSG00000170500	ENST00000393437;ENST00000409647	D;D	0.85171	-1.81;-1.95	4.49	1.41	0.22369	.	1.324550	0.05170	N	0.499411	T	0.71779	0.3380	N	0.14661	0.345	0.09310	N	1	B	0.11235	0.004	B	0.06405	0.002	T	0.54788	-0.8241	10	0.27082	T	0.32	-1.7241	4.4126	0.11441	0.0834:0.2954:0.4782:0.143	.	397	Q1L5Z9	LONF2_HUMAN	V	397;154	ENSP00000377086:A397V;ENSP00000386823:A154V	ENSP00000377086:A397V	A	-	2	0	LONRF2	100282688	0.003000	0.15002	0.001000	0.08648	0.021000	0.10359	1.315000	0.33608	-0.035000	0.13691	0.555000	0.69702	GCT		0.448	LONRF2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253161.2	NM_198461		23	55	0	0	0	1	0	23	55				
TEP1	7011	broad.mit.edu	37	14	20874441	20874441	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr14:20874441T>C	ENST00000262715.5	-	3	726	c.686A>G	c.(685-687)gAc>gGc	p.D229G	TEP1_ENST00000556935.1_Missense_Mutation_p.D229G	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	telomerase-associated protein 1	229	TROVE. {ECO:0000255|PROSITE- ProRule:PRU00343}.				RNA-dependent DNA replication (GO:0006278)|telomere maintenance via recombination (GO:0000722)	chromosome, telomeric region (GO:0000781)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|ribonucleoprotein complex (GO:0030529)|telomerase holoenzyme complex (GO:0005697)	ATP binding (GO:0005524)|RNA binding (GO:0003723)			NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96	all_cancers(95;0.00123)	all_lung(585;0.235)	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)		AGATTCAGAGTCTCCAGAGGT	0.493																																						ENST00000262715.5																			0				NS(4)|breast(1)|central_nervous_system(4)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(9)|lung(48)|ovary(7)|pancreas(1)|prostate(2)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	96						c.(685-687)gAc>gGc		telomerase-associated protein 1							134.0	115.0	121.0					14																	20874441		2203	4300	6503	SO:0001583	missense	7011				telomere maintenance via recombination	chromosome, telomeric region|cytoplasm|nuclear matrix|soluble fraction|telomerase holoenzyme complex	ATP binding|RNA binding	g.chr14:20874441T>C		CCDS9548.1	14q11.2	2013-01-10			ENSG00000129566	ENSG00000129566		"""WD repeat domain containing"""	11726	protein-coding gene	gene with protein product	"""TROVE domain family, member 1"""	601686				9403057	Standard	NM_007110		Approved	TP1, TLP1, VAULT2, p240, TROVE1	uc001vxe.3	Q99973	OTTHUMG00000029515	ENST00000262715.5:c.686A>G	14.37:g.20874441T>C	ENSP00000262715:p.Asp229Gly					TEP1_ENST00000556935.1_Missense_Mutation_p.D229G	p.D229G	NM_007110.4	NP_009041.2	Q99973	TEP1_HUMAN	Epithelial(56;7.42e-08)|all cancers(55;6.46e-07)	GBM - Glioblastoma multiforme(265;0.028)|READ - Rectum adenocarcinoma(17;0.233)	3	726	-	all_cancers(95;0.00123)	all_lung(585;0.235)	229			TROVE.		A0AUV9	Missense_Mutation	SNP	ENST00000262715.5	37	c.686A>G	CCDS9548.1	.	.	.	.	.	.	.	.	.	.	T	4.177	0.031431	0.08101	.	.	ENSG00000129566	ENST00000262715;ENST00000359243;ENST00000556935	T;T	0.13778	2.56;2.56	5.05	1.18	0.20946	TROVE (2);	0.563937	0.17115	N	0.186467	T	0.15998	0.0385	M	0.62723	1.935	0.09310	N	1	B;B	0.30851	0.253;0.297	B;B	0.37833	0.168;0.259	T	0.19353	-1.0308	10	0.56958	D	0.05	-3.2866	5.7479	0.18130	0.1756:0.0:0.3187:0.5057	.	229;229	G3V5X7;Q99973	.;TEP1_HUMAN	G	229	ENSP00000262715:D229G;ENSP00000452574:D229G	ENSP00000262715:D229G	D	-	2	0	TEP1	19944281	0.000000	0.05858	0.000000	0.03702	0.007000	0.05969	0.391000	0.20784	0.102000	0.17638	-1.634000	0.00779	GAC		0.493	TEP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000073563.2	NM_007110		29	62	0	0	0	1	0	29	62				
KLF11	8462	broad.mit.edu	37	2	10188573	10188573	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:10188573C>T	ENST00000305883.1	+	3	1271	c.1109C>T	c.(1108-1110)gCc>gTc	p.A370V	KLF11_ENST00000535335.1_Missense_Mutation_p.A353V|KLF11_ENST00000540845.1_Missense_Mutation_p.A353V	NM_003597.4	NP_003588.1	O14901	KLF11_HUMAN	Kruppel-like factor 11	370					apoptotic process (GO:0006915)|cellular response to peptide (GO:1901653)|negative regulation of cell proliferation (GO:0008285)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|regulation of transcription involved in G1/S transition of mitotic cell cycle (GO:0000083)|transcription from RNA polymerase II promoter (GO:0006366)	nucleus (GO:0005634)	metal ion binding (GO:0046872)|sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0000981)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)			Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228)		TTGCCCCTTGCCCCTGCTCCA	0.587											OREG0014425	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																									Melanoma(56;431 1507 23687 50789)	ENST00000535335.1																			0				endometrium(2)|kidney(1)|large_intestine(2)|lung(5)|ovary(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	16						c.(1057-1059)gCc>gTc		Kruppel-like factor 11							101.0	101.0	101.0					2																	10188573		2203	4300	6503	SO:0001583	missense	8462				apoptosis|negative regulation of cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|regulation of transcription involved in S phase of mitotic cell cycle	nucleus	sequence-specific DNA binding RNA polymerase II transcription factor activity|transcription regulatory region DNA binding|zinc ion binding	g.chr2:10188573C>T	AF028008	CCDS1668.1, CCDS54333.1	2p25	2013-01-08	2004-11-29	2004-12-01	ENSG00000172059	ENSG00000172059		"""Kruppel-like transcription factors"", ""Zinc fingers, C2H2-type"""	11811	protein-coding gene	gene with protein product		603301	"""TGFB inducible early growth response 2"""	TIEG2		9748269, 11087666	Standard	NM_001177716		Approved	Tieg3, MODY7	uc002raf.1	O14901	OTTHUMG00000119004	ENST00000305883.1:c.1109C>T	2.37:g.10188573C>T	ENSP00000307023:p.Ala370Val		OREG0014425	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	662	KLF11_ENST00000305883.1_Missense_Mutation_p.A370V|KLF11_ENST00000540845.1_Missense_Mutation_p.A353V	p.A353V	NM_001177718.1	NP_001171189.1	O14901	KLF11_HUMAN		Epithelial(75;0.133)|OV - Ovarian serous cystadenocarcinoma(76;0.228)	3	1274	+	all_hematologic(175;0.127)|Acute lymphoblastic leukemia(172;0.155)		370					B4DZE7|Q9EPF4	Missense_Mutation	SNP	ENST00000305883.1	37	c.1058C>T	CCDS1668.1	.	.	.	.	.	.	.	.	.	.	C	23.0	4.368158	0.82463	.	.	ENSG00000172059	ENST00000305883;ENST00000540845;ENST00000535335	T;T;T	0.17213	2.3;2.29;2.29	5.4	5.4	0.78164	.	0.047497	0.85682	D	0.000000	T	0.48259	0.1490	M	0.86651	2.83	0.80722	D	1	D	0.76494	0.999	D	0.65684	0.937	T	0.53620	-0.8413	9	.	.	.	.	19.1508	0.93487	0.0:1.0:0.0:0.0	.	370	O14901	KLF11_HUMAN	V	370;353;353	ENSP00000307023:A370V;ENSP00000444690:A353V;ENSP00000442722:A353V	.	A	+	2	0	KLF11	10106024	1.000000	0.71417	0.068000	0.19968	0.383000	0.30230	7.779000	0.85648	2.532000	0.85374	0.205000	0.17691	GCC		0.587	KLF11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000239202.3	NM_003597		36	93	0	0	0	1	0	36	93				
PKD2L2	27039	broad.mit.edu	37	5	137228188	137228188	+	Silent	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr5:137228188C>T	ENST00000508883.1	+	3	179	c.153C>T	c.(151-153)aaC>aaT	p.N51N	PKD2L2_ENST00000290431.5_Silent_p.N51N|PKD2L2_ENST00000350250.4_Silent_p.N17N|PKD2L2_ENST00000508638.1_Silent_p.N51N|PKD2L2_ENST00000502810.1_Silent_p.N51N			Q9NZM6	PK2L2_HUMAN	polycystic kidney disease 2-like 2	51					calcium ion transmembrane transport (GO:0070588)|detection of mechanical stimulus (GO:0050982)	integral component of membrane (GO:0016021)	calcium channel activity (GO:0005262)|calcium ion binding (GO:0005509)			breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28			KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)			GGATGGTAAACCCACATATGT	0.308																																						ENST00000508638.1																			0				breast(1)|endometrium(7)|kidney(4)|large_intestine(6)|lung(7)|skin(1)|upper_aerodigestive_tract(2)	28						c.(151-153)aaC>aaT		polycystic kidney disease 2-like 2							109.0	101.0	103.0					5																	137228188		1810	4071	5881	SO:0001819	synonymous_variant	27039					integral to membrane	calcium ion binding|ion channel activity	g.chr5:137228188C>T	AF118125	CCDS43367.1, CCDS58971.1, CCDS58972.1	5q31	2011-12-16			ENSG00000078795	ENSG00000078795		"""Voltage-gated ion channels / Transient receptor potential cation channels"""	9012	protein-coding gene	gene with protein product		604669				10602361	Standard	NM_014386		Approved	TRPP5	uc003lbw.1	Q9NZM6	OTTHUMG00000163306	ENST00000508883.1:c.153C>T	5.37:g.137228188C>T						PKD2L2_ENST00000290431.5_Silent_p.N51N|PKD2L2_ENST00000508883.1_Silent_p.N51N|PKD2L2_ENST00000502810.1_Silent_p.N51N|PKD2L2_ENST00000350250.4_Silent_p.N17N	p.N51N	NM_001258449.1	NP_001245378.1	Q9NZM6	PK2L2_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.0101)|Kidney(363;0.0109)		3	208	+			51					A6NK98|B4DXD2|E9PC91|E9PDG4|Q86YB4|Q9UNJ0	Silent	SNP	ENST00000508883.1	37	c.153C>T																																																																																					0.308	PKD2L2-001	KNOWN	basic|appris_principal	protein_coding	protein_coding	OTTHUMT00000372521.1	NM_014386		11	32	0	0	0	1	0	11	32				
REG1P	5969	broad.mit.edu	37	2	79364379	79364379	+	RNA	SNP	C	C	G			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:79364379C>G	ENST00000444841.1	-	0	255									regenerating islet-derived 1 pseudogene																		TCATGCTCTTCATTAAAGTAG	0.562																																						ENST00000444841.1																			0																																																			5969							g.chr2:79364379C>G			2p12	2008-06-04	2008-06-04	2008-06-04	ENSG00000204787	ENSG00000204787			9953	pseudogene	pseudogene			"""rat regenerating islet-derived-like, human homolog (pancreatic stone protein-like, pancreatic thread protein-like)"", ""regenerating islet-derived-like, pancreatic stone protein-like, pancreatic thread protein-like (rat)"""	REGL		8333731	Standard	NR_002714		Approved	RS	uc002soc.1		OTTHUMG00000152978		2.37:g.79364379C>G														0	255	-									RNA	SNP	ENST00000444841.1	37																																																																																						0.562	REG1P-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000328851.1	NR_002714		20	25	0	0	0	1	0	20	25				
LRRC40	55631	broad.mit.edu	37	1	70641656	70641656	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:70641656C>T	ENST00000370952.3	-	7	893	c.814G>A	c.(814-816)Gta>Ata	p.V272I		NM_017768.4	NP_060238.3	Q9H9A6	LRC40_HUMAN	leucine rich repeat containing 40	272						membrane (GO:0016020)		p.V272I(1)		breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						TTTTCACCTACGTGCAATTCC	0.313																																						ENST00000370952.3																			1	Substitution - Missense(1)	p.V272I(1)	large_intestine(1)	breast(1)|cervix(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(5)|lung(10)|ovary(1)|prostate(1)|skin(2)	27						c.(814-816)Gta>Ata		leucine rich repeat containing 40							94.0	92.0	93.0					1																	70641656		2203	4299	6502	SO:0001583	missense	55631							g.chr1:70641656C>T		CCDS646.1	1p31.1	2008-02-05			ENSG00000066557	ENSG00000066557			26004	protein-coding gene	gene with protein product						12477932	Standard	NM_017768		Approved	FLJ20331	uc001der.2	Q9H9A6	OTTHUMG00000009348	ENST00000370952.3:c.814G>A	1.37:g.70641656C>T	ENSP00000359990:p.Val272Ile						p.V272I	NM_017768.4	NP_060238.3	Q9H9A6	LRC40_HUMAN			7	893	-			272					Q9BTR7|Q9NSK1|Q9NXC1	Missense_Mutation	SNP	ENST00000370952.3	37	c.814G>A	CCDS646.1	.	.	.	.	.	.	.	.	.	.	C	3.663	-0.069023	0.07228	.	.	ENSG00000066557	ENST00000370952	T	0.53857	0.6	5.53	-2.58	0.06228	.	0.674999	0.14834	N	0.295670	T	0.06325	0.0163	N	0.02334	-0.595	0.22737	N	0.998799	B	0.13594	0.008	B	0.12156	0.007	T	0.31166	-0.9953	10	0.32370	T	0.25	.	1.611	0.02693	0.2138:0.3932:0.2079:0.1851	.	272	Q9H9A6	LRC40_HUMAN	I	272	ENSP00000359990:V272I	ENSP00000359990:V272I	V	-	1	0	LRRC40	70414244	0.704000	0.27836	0.415000	0.26534	0.523000	0.34469	0.546000	0.23284	-0.493000	0.06678	-1.051000	0.02340	GTA		0.313	LRRC40-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000025914.1	NM_017768		22	39	0	0	0	1	0	22	39				
RAB40B	10966	broad.mit.edu	37	17	80615805	80615805	+	Silent	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:80615805C>A	ENST00000571995.1	-	6	902	c.771G>T	c.(769-771)gtG>gtT	p.V257V	RAB40B_ENST00000538809.2_3'UTR|RAB40B_ENST00000571880.1_5'Flank|RAB40B_ENST00000269347.6_Silent_p.V78V	NM_006822.2	NP_006813.1	Q12829	RB40B_HUMAN	RAB40B, member RAS oncogene family	257					protein transport (GO:0015031)|protein ubiquitination (GO:0016567)|small GTPase mediated signal transduction (GO:0007264)	plasma membrane (GO:0005886)	GTP binding (GO:0005525)			central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(2)	10	Breast(20;0.00132)|all_neural(118;0.0952)	all_cancers(8;0.072)|all_epithelial(8;0.139)	BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.061)			GGACGAGCTTCACTTTGCGGA	0.572																																						ENST00000571995.1																			0				central_nervous_system(1)|kidney(1)|large_intestine(1)|lung(4)|ovary(1)|urinary_tract(2)	10						c.(769-771)gtG>gtT		RAB40B, member RAS oncogene family							91.0	102.0	98.0					17																	80615805		2203	4300	6503	SO:0001819	synonymous_variant	10966				protein transport|small GTPase mediated signal transduction	plasma membrane	GTP binding	g.chr17:80615805C>A	U05227	CCDS11816.1	17q25.3	2014-08-12			ENSG00000141542	ENSG00000141542		"""RAB, member RAS oncogene"""	18284	protein-coding gene	gene with protein product						11697911	Standard	NM_006822		Approved	SEC4L, RAR	uc002kft.3	Q12829	OTTHUMG00000177806	ENST00000571995.1:c.771G>T	17.37:g.80615805C>A						RAB40B_ENST00000538809.2_3'UTR|RAB40B_ENST00000269347.6_Silent_p.V78V	p.V257V	NM_006822.2	NP_006813.1	Q12829	RB40B_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0262)|OV - Ovarian serous cystadenocarcinoma(97;0.061)		6	902	-	Breast(20;0.00132)|all_neural(118;0.0952)	all_cancers(8;0.072)|all_epithelial(8;0.139)	257					Q8WVG3	Silent	SNP	ENST00000571995.1	37	c.771G>T	CCDS11816.1																																																																																				0.572	RAB40B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000439007.1			55	136	1	0	8.95456e-52	1	1.12897e-51	55	136				
KRTAP5-1	387264	broad.mit.edu	37	11	1605932	1605932	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:1605932C>G	ENST00000382171.2	-	1	581	c.548G>C	c.(547-549)tGc>tCc	p.C183S	KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA|KRTAP5-AS1_ENST00000534077.1_RNA	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN	keratin associated protein 5-1	183	8 X 4 AA repeats of C-C-X-P.					keratin filament (GO:0045095)				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)		GCCCCCCTTGCAGCCTCCACA	0.682																																						ENST00000382171.2																			0				endometrium(3)|kidney(1)|lung(9)|skin(2)|upper_aerodigestive_tract(1)	16						c.(547-549)tGc>tCc		keratin associated protein 5-1							38.0	52.0	47.0					11																	1605932		2201	4298	6499	SO:0001583	missense	387264					keratin filament		g.chr11:1605932C>G	AB126070	CCDS31330.1	11p15.5	2008-02-05			ENSG00000205869	ENSG00000205869		"""Keratin associated proteins"""	23596	protein-coding gene	gene with protein product		148022	"""keratin, cuticle, ultrahigh sulphur 1-like"""	KRN1L		15144888	Standard	NM_001005922		Approved	KRTAP5.1	uc001ltu.1	Q6L8H4	OTTHUMG00000057557	ENST00000382171.2:c.548G>C	11.37:g.1605932C>G	ENSP00000371606:p.Cys183Ser					KRTAP5-AS1_ENST00000534077.1_RNA|KRTAP5-AS1_ENST00000524947.1_RNA|KRTAP5-AS1_ENST00000424148.1_RNA|KRTAP5-AS1_ENST00000532922.1_RNA	p.C183S	NM_001005922.1	NP_001005922.1	Q6L8H4	KRA51_HUMAN		BRCA - Breast invasive adenocarcinoma(625;0.000614)|Lung(200;0.0681)|LUSC - Lung squamous cell carcinoma(625;0.082)	1	581	-		all_epithelial(84;0.00018)|Ovarian(85;0.0014)|Breast(177;0.00147)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.229)	183			8 X 4 AA repeats of C-C-X-P.			Missense_Mutation	SNP	ENST00000382171.2	37	c.548G>C	CCDS31330.1	.	.	.	.	.	.	.	.	.	.	-	4.835	0.155220	0.09236	.	.	ENSG00000205869	ENST00000382171	T	0.04049	3.72	3.58	0.291	0.15732	.	.	.	.	.	T	0.02418	0.0074	N	0.02721	-0.515	0.09310	N	1	B	0.16396	0.017	B	0.12156	0.007	T	0.47182	-0.9137	9	0.28530	T	0.3	.	12.3145	0.54948	0.0:0.5297:0.4703:0.0	.	183	Q6L8H4	KRA51_HUMAN	S	183	ENSP00000371606:C183S	ENSP00000371606:C183S	C	-	2	0	KRTAP5-1	1562508	0.000000	0.05858	0.000000	0.03702	0.066000	0.16364	-0.356000	0.07661	-0.275000	0.09219	0.271000	0.19318	TGC		0.682	KRTAP5-1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000127922.1	NM_001005922		4	63	0	0	0	1	0	4	63				
ASPM	259266	broad.mit.edu	37	1	197065192	197065192	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:197065192G>T	ENST00000367409.4	-	19	9179	c.8923C>A	c.(8923-8925)Cta>Ata	p.L2975I	ASPM_ENST00000294732.7_Missense_Mutation_p.L1390I|ASPM_ENST00000367408.1_Missense_Mutation_p.L640I	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN	asp (abnormal spindle) homolog, microcephaly associated (Drosophila)	2975	IQ 35. {ECO:0000255|PROSITE- ProRule:PRU00116}.				developmental growth (GO:0048589)|forebrain neuroblast division (GO:0021873)|maintenance of centrosome location (GO:0051661)|mitotic nuclear division (GO:0007067)|negative regulation of asymmetric cell division (GO:0045769)|negative regulation of neuron differentiation (GO:0045665)|neuron migration (GO:0001764)|oogenesis (GO:0048477)|positive regulation of canonical Wnt signaling pathway (GO:0090263)|positive regulation of neuroblast proliferation (GO:0002052)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|midbody (GO:0030496)|nucleus (GO:0005634)|spindle pole (GO:0000922)				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						AATATAGCTAGATATTCTTTG	0.353																																						ENST00000367409.4																			0				breast(6)|central_nervous_system(2)|cervix(2)|endometrium(10)|kidney(9)|large_intestine(28)|liver(1)|lung(87)|ovary(5)|pancreas(2)|prostate(6)|skin(4)|urinary_tract(3)	165						c.(8923-8925)Cta>Ata		asp (abnormal spindle) homolog, microcephaly associated (Drosophila)							150.0	167.0	161.0					1																	197065192		2203	4298	6501	SO:0001583	missense	259266				mitosis	cytoplasm|nucleus	calmodulin binding	g.chr1:197065192G>T	AY367065	CCDS1389.1, CCDS55672.1	1q31	2008-02-05	2006-09-12		ENSG00000066279	ENSG00000066279			19048	protein-coding gene	gene with protein product		605481	"""microcephaly, primary autosomal recessive 5"", ""asp (abnormal spindle)-like, microcephaly associated (Drosophila)"""	MCPH5		11078481	Standard	NM_018136		Approved	Calmbp1, ASP, FLJ10517, FLJ10549	uc001gtu.3	Q8IZT6	OTTHUMG00000036277	ENST00000367409.4:c.8923C>A	1.37:g.197065192G>T	ENSP00000356379:p.Leu2975Ile					ASPM_ENST00000367408.1_Missense_Mutation_p.L640I|ASPM_ENST00000294732.7_Missense_Mutation_p.L1390I	p.L2975I	NM_018136.4	NP_060606.3	Q8IZT6	ASPM_HUMAN			19	9179	-			2975			IQ 35.		Q4G1H1|Q5VYL3|Q86UX4|Q8IUL2|Q8IZJ7|Q8IZJ8|Q8IZJ9|Q8N4D1|Q9NVS1|Q9NVT6	Missense_Mutation	SNP	ENST00000367409.4	37	c.8923C>A	CCDS1389.1	.	.	.	.	.	.	.	.	.	.	G	14.42	2.529364	0.44969	.	.	ENSG00000066279	ENST00000367409;ENST00000294732;ENST00000367408;ENST00000367406	T;T;T	0.72835	-0.69;-0.69;1.16	5.15	2.25	0.28309	.	0.534254	0.17036	N	0.189512	T	0.77061	0.4075	M	0.68317	2.08	0.09310	N	1	D;P;D	0.67145	0.996;0.951;0.994	D;P;D	0.67382	0.951;0.772;0.935	T	0.63821	-0.6550	10	0.33940	T	0.23	.	6.1913	0.20526	0.2285:0.198:0.5735:0.0	.	961;1390;2975	E7EQ84;Q4G1H1;Q8IZT6	.;.;ASPM_HUMAN	I	2975;1390;640;961	ENSP00000356379:L2975I;ENSP00000294732:L1390I;ENSP00000356378:L640I	ENSP00000294732:L1390I	L	-	1	2	ASPM	195331815	0.161000	0.22892	0.849000	0.33467	0.973000	0.67179	0.047000	0.14056	0.190000	0.20209	0.563000	0.77884	CTA		0.353	ASPM-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000088256.1	NM_018136		39	108	1	0	5.43694e-19	1	6.5585e-19	39	108				
CNIH3	149111	broad.mit.edu	37	1	224804897	224804897	+	Silent	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:224804897G>A	ENST00000272133.3	+	1	903	c.21G>A	c.(19-21)gcG>gcA	p.A7A	RP11-100E13.1_ENST00000437416.1_RNA	NM_152495.1	NP_689708.1	Q8TBE1	CNIH3_HUMAN	cornichon family AMPA receptor auxiliary protein 3	7					intracellular signal transduction (GO:0035556)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|regulation of membrane potential (GO:0042391)|synaptic transmission, glutamatergic (GO:0035249)	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex (GO:0032281)|cell junction (GO:0030054)|dendritic shaft (GO:0043198)|postsynaptic membrane (GO:0045211)	channel regulator activity (GO:0016247)			large_intestine(5)|lung(4)	9	Breast(184;0.218)			GBM - Glioblastoma multiforme(131;0.073)		CTTTCGCTGCGTTCTGCTACA	0.597																																						ENST00000272133.3																			0				large_intestine(5)|lung(4)	9						c.(19-21)gcG>gcA		cornichon family AMPA receptor auxiliary protein 3							372.0	361.0	365.0					1																	224804897		2203	4300	6503	SO:0001819	synonymous_variant	149111				intracellular signal transduction|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity	alpha-amino-3-hydroxy-5-methyl-4-isoxazolepropionic acid selective glutamate receptor complex|cell junction|dendritic shaft|postsynaptic membrane		g.chr1:224804897G>A	AF070524	CCDS1544.1	1q42.12	2013-08-28	2013-08-28		ENSG00000143786	ENSG00000143786			26802	protein-coding gene	gene with protein product			"""cornichon homolog 3 (Drosophila)"""			8619474, 9110174	Standard	NM_152495		Approved	FLJ38993, CNIH-3	uc001hos.1	Q8TBE1	OTTHUMG00000037634	ENST00000272133.3:c.21G>A	1.37:g.224804897G>A							p.A7A	NM_152495.1	NP_689708.1	Q8TBE1	CNIH3_HUMAN		GBM - Glioblastoma multiforme(131;0.073)	1	903	+	Breast(184;0.218)		7						Silent	SNP	ENST00000272133.3	37	c.21G>A	CCDS1544.1																																																																																				0.597	CNIH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000091752.2	NM_152495		133	304	0	0	0	1	0	133	304				
MYO18A	399687	broad.mit.edu	37	17	27422023	27422023	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:27422023C>A	ENST00000527372.1	-	29	4620	c.4440G>T	c.(4438-4440)caG>caT	p.Q1480H	MYO18A_ENST00000531253.1_Missense_Mutation_p.Q1480H|MYO18A_ENST00000533112.1_Missense_Mutation_p.Q1480H|MYO18A_ENST00000354329.4_Missense_Mutation_p.Q1480H	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	myosin XVIIIA	1480					actomyosin structure organization (GO:0031032)|cell migration (GO:0016477)|DNA metabolic process (GO:0006259)|Golgi organization (GO:0007030)|Golgi vesicle budding (GO:0048194)|negative regulation of apoptotic process (GO:0043066)|positive regulation of protein secretion (GO:0050714)	actomyosin (GO:0042641)|Golgi membrane (GO:0000139)|membrane (GO:0016020)|myosin complex (GO:0016459)|trans-Golgi network (GO:0005802)	actin filament binding (GO:0051015)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|DNA binding (GO:0003677)|motor activity (GO:0003774)|poly(A) RNA binding (GO:0044822)			NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36			Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)			GCTTCTCCCGCTGCAGCTTCT	0.632																																					Esophageal Squamous(182;472 2015 7001 15270 22562)	ENST00000527372.1																			0				NS(1)|cervix(1)|endometrium(6)|kidney(6)|lung(20)|urinary_tract(2)	36						c.(4438-4440)caG>caT		myosin XVIIIA							18.0	20.0	19.0					17																	27422023		2089	4223	6312	SO:0001583	missense	399687				anti-apoptosis|DNA metabolic process	ER-Golgi intermediate compartment|myosin complex	ATP binding|DNA binding|DNA-dependent ATPase activity|identical protein binding|motor activity	g.chr17:27422023C>A	D86970	CCDS45641.1, CCDS45642.1	17q11.2	2011-09-27			ENSG00000196535	ENSG00000196535		"""Myosins / Myosin superfamily : Class XVIII"""	31104	protein-coding gene	gene with protein product		610067				12761286	Standard	NM_078471		Approved	KIAA0216, MysPDZ	uc002hdt.1	Q92614	OTTHUMG00000166360	ENST00000527372.1:c.4440G>T	17.37:g.27422023C>A	ENSP00000437073:p.Gln1480His					MYO18A_ENST00000531253.1_Missense_Mutation_p.Q1480H|MYO18A_ENST00000354329.4_Missense_Mutation_p.Q1480H|MYO18A_ENST00000533112.1_Missense_Mutation_p.Q1480H	p.Q1480H	NM_078471.3	NP_510880.2	Q92614	MY18A_HUMAN	Epithelial(11;4.97e-05)|BRCA - Breast invasive adenocarcinoma(11;0.000221)|all cancers(11;0.000234)|Colorectal(6;0.0102)|COAD - Colon adenocarcinoma(6;0.031)		29	4620	-			1480					Q5H9U3|Q5W9F9|Q5W9G1|Q8IXP8	Missense_Mutation	SNP	ENST00000527372.1	37	c.4440G>T	CCDS45642.1	.	.	.	.	.	.	.	.	.	.	C	22.3	4.266667	0.80358	.	.	ENSG00000196535	ENST00000354329;ENST00000359450;ENST00000533112;ENST00000531253;ENST00000527372;ENST00000529799;ENST00000540575;ENST00000458428	T;T;T;T	0.35421	1.31;1.31;1.31;1.31	5.8	4.84	0.62591	Myosin tail (1);	0.049461	0.85682	D	0.000000	T	0.56262	0.1973	M	0.72894	2.215	0.31167	N	0.703641	P;D;D;D;D	0.62365	0.942;0.986;0.986;0.986;0.991	P;P;P;P;P	0.62491	0.831;0.742;0.855;0.855;0.903	T	0.65154	-0.6237	10	0.56958	D	0.05	.	14.7271	0.69351	0.0:0.9307:0.0:0.0693	.	1149;1092;1480;1480;1480	Q92614-2;F8W6Y3;Q92614-3;Q92614-4;Q92614	.;.;.;.;MY18A_HUMAN	H	1480;1480;1480;1480;1480;376;376;1092	ENSP00000346291:Q1480H;ENSP00000435932:Q1480H;ENSP00000434228:Q1480H;ENSP00000437073:Q1480H	ENSP00000346291:Q1480H	Q	-	3	2	MYO18A	24446149	1.000000	0.71417	1.000000	0.80357	0.981000	0.71138	5.320000	0.65841	1.467000	0.48044	0.655000	0.94253	CAG		0.632	MYO18A-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000389396.1	NM_078471		3	8	1	0	0.150653	1	0.150899	3	8				
ACTN2	88	broad.mit.edu	37	1	236906324	236906324	+	Silent	SNP	G	G	A	rs143566058		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:236906324G>A	ENST00000366578.4	+	11	1402	c.1236G>A	c.(1234-1236)acG>acA	p.T412T	ACTN2_ENST00000542672.1_Silent_p.T412T|ACTN2_ENST00000546208.1_5'UTR|ACTN2_ENST00000492634.1_3'UTR	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	actinin, alpha 2	412					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|focal adhesion assembly (GO:0048041)|microspike assembly (GO:0030035)|muscle filament sliding (GO:0030049)|negative regulation of potassium ion transmembrane transporter activity (GO:1901017)|negative regulation of potassium ion transport (GO:0043267)|negative regulation of protein localization to cell surface (GO:2000009)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)|positive regulation of potassium ion transmembrane transporter activity (GO:1901018)|positive regulation of potassium ion transport (GO:0043268)|protein homotetramerization (GO:0051289)|regulation of apoptotic process (GO:0042981)|regulation of membrane potential (GO:0042391)|synaptic transmission (GO:0007268)	actin filament (GO:0005884)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|dendritic spine (GO:0043197)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|filopodium (GO:0030175)|focal adhesion (GO:0005925)|platelet alpha granule lumen (GO:0031093)|pseudopodium (GO:0031143)|Z disc (GO:0030018)	calcium ion binding (GO:0005509)|cytoskeletal protein binding (GO:0008092)|FATZ binding (GO:0051373)|identical protein binding (GO:0042802)|integrin binding (GO:0005178)|ion channel binding (GO:0044325)|protein dimerization activity (GO:0046983)|structural constituent of muscle (GO:0008307)|thyroid hormone receptor coactivator activity (GO:0030375)|titin binding (GO:0031432)|titin Z domain binding (GO:0070080)	p.T412T(1)		endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	OV - Ovarian serous cystadenocarcinoma(106;0.00168)			AGGCCTCAACGCACGAGACTT	0.502																																						ENST00000366578.4																			1	Substitution - coding silent(1)	p.T412T(1)	large_intestine(1)	endometrium(4)|kidney(2)|large_intestine(15)|lung(55)|ovary(4)|prostate(3)|skin(3)	86						c.(1234-1236)acG>acA		actinin, alpha 2		G		0,4406		0,0,2203	97.0	89.0	91.0		1236	-10.9	0.0	1	dbSNP_134	91	1,8599	1.2+/-3.3	0,1,4299	no	coding-synonymous	ACTN2	NM_001103.2		0,1,6502	AA,AG,GG		0.0116,0.0,0.0077		412/895	236906324	1,13005	2203	4300	6503	SO:0001819	synonymous_variant	88				focal adhesion assembly|microspike assembly|muscle filament sliding|platelet activation|platelet degranulation|protein homotetramerization|regulation of apoptosis|synaptic transmission	actin filament|cytosol|dendritic spine|extracellular region|filopodium|focal adhesion|nucleolus|platelet alpha granule lumen|pseudopodium|Z disc	actin binding|calcium ion binding|FATZ 1 binding|identical protein binding|integrin binding|protein dimerization activity|structural constituent of muscle|titin binding|titin Z domain binding|ZASP binding	g.chr1:236906324G>A	BC047901	CCDS1613.1, CCDS60455.1, CCDS73053.1	1q42-q43	2014-09-17			ENSG00000077522	ENSG00000077522		"""EF-hand domain containing"""	164	protein-coding gene	gene with protein product		102573				1339456	Standard	NM_001103		Approved		uc001hyf.2	P35609	OTTHUMG00000040059	ENST00000366578.4:c.1236G>A	1.37:g.236906324G>A						ACTN2_ENST00000546208.1_5'UTR|ACTN2_ENST00000542672.1_Silent_p.T412T|ACTN2_ENST00000492634.1_3'UTR	p.T412T	NM_001103.2|NM_001278343.1	NP_001094.1|NP_001265272.1	P35609	ACTN2_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.00168)		11	1402	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;0.00661)|Acute lymphoblastic leukemia(190;0.109)|Prostate(94;0.174)	412					B1ANE4|B2RCS5|Q86TF4|Q86TI8	Silent	SNP	ENST00000366578.4	37	c.1236G>A	CCDS1613.1																																																																																				0.502	ACTN2-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000096628.1	NM_001103		20	52	0	0	0	1	0	20	52				
STK36	27148	broad.mit.edu	37	2	219540175	219540175	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:219540175G>A	ENST00000295709.3	+	5	692	c.413G>A	c.(412-414)gGc>gAc	p.G138D	STK36_ENST00000392106.2_Missense_Mutation_p.G138D|STK36_ENST00000440309.1_Missense_Mutation_p.G138D|STK36_ENST00000392105.3_Missense_Mutation_p.G138D	NM_015690.4	NP_056505.2			serine/threonine kinase 36											biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52		Renal(207;0.0915)		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)		AAGGGTGGTGGCATCAAGCTC	0.458																																						ENST00000295709.3																			0				biliary_tract(1)|breast(2)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(3)|large_intestine(6)|lung(20)|ovary(4)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(1)	52						c.(412-414)gGc>gAc		serine/threonine kinase 36							146.0	133.0	137.0					2																	219540175		2203	4300	6503	SO:0001583	missense	27148				cilium assembly|positive regulation of hh target transcription factor activity|positive regulation of smoothened signaling pathway|post-embryonic development	aggresome|cytoplasm|focal adhesion|intermediate filament cytoskeleton|nucleus	ATP binding|protein serine/threonine kinase activity|transcription factor binding	g.chr2:219540175G>A	AB033104	CCDS2421.1, CCDS58750.1	2q35	2010-06-25	2010-06-25		ENSG00000163482	ENSG00000163482			17209	protein-coding gene	gene with protein product	"""fused homolog (Drosophila)"""	607652	"""serine/threonine kinase 36 (fused homolog, Drosophila)"""			10806483	Standard	NM_001243313		Approved	KIAA1278, FU	uc002viu.3	Q9NRP7	OTTHUMG00000133079	ENST00000295709.3:c.413G>A	2.37:g.219540175G>A	ENSP00000295709:p.Gly138Asp					STK36_ENST00000440309.1_Missense_Mutation_p.G138D|STK36_ENST00000392105.3_Missense_Mutation_p.G138D|STK36_ENST00000392106.2_Missense_Mutation_p.G138D	p.G138D	NM_015690.4	NP_056505.2	Q9NRP7	STK36_HUMAN		Epithelial(149;9.65e-07)|all cancers(144;0.000174)|LUSC - Lung squamous cell carcinoma(224;0.00813)|Lung(261;0.00984)	5	692	+		Renal(207;0.0915)	138			Protein kinase.			Missense_Mutation	SNP	ENST00000295709.3	37	c.413G>A	CCDS2421.1	.	.	.	.	.	.	.	.	.	.	G	20.4	3.984497	0.74474	.	.	ENSG00000163482	ENST00000295709;ENST00000392106;ENST00000392105;ENST00000440309;ENST00000424080	T;T;T;T;T	0.64085	-0.08;-0.08;-0.08;-0.08;-0.08	5.6	5.6	0.85130	Serine/threonine-protein kinase-like domain (1);Serine/threonine-protein kinase, catalytic  domain (1);Protein kinase-like domain (1);Protein kinase, catalytic domain (1);	0.000000	0.45126	D	0.000383	T	0.48786	0.1519	N	0.04260	-0.245	0.34431	D	0.698515	D;P	0.57571	0.98;0.922	P;P	0.55667	0.759;0.781	T	0.56074	-0.8039	10	0.20046	T	0.44	-20.9955	9.7149	0.40268	0.0:0.1254:0.6821:0.1924	.	138;138	Q9NRP7-2;Q9NRP7	.;STK36_HUMAN	D	138	ENSP00000295709:G138D;ENSP00000375955:G138D;ENSP00000375954:G138D;ENSP00000394095:G138D;ENSP00000403527:G138D	ENSP00000295709:G138D	G	+	2	0	STK36	219248419	1.000000	0.71417	1.000000	0.80357	0.999000	0.98932	3.326000	0.52037	2.653000	0.90120	0.655000	0.94253	GGC		0.458	STK36-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256723.2			29	76	0	0	0	1	0	29	76				
KIAA1549L	25758	broad.mit.edu	37	11	33612946	33612946	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:33612946A>G	ENST00000321505.4	+	11	4019	c.3839A>G	c.(3838-3840)aAa>aGa	p.K1280R	KIAA1549L_ENST00000265654.5_Intron|KIAA1549L_ENST00000389726.3_Missense_Mutation_p.K1286R			Q6ZVL6	K154L_HUMAN	KIAA1549-like	1280						integral component of membrane (GO:0016021)											AAGACCGCCAAATCCACTGAA	0.512																																						ENST00000321505.4																			0											c.(3838-3840)aAa>aGa		KIAA1549-like							73.0	74.0	74.0					11																	33612946		2004	4160	6164	SO:0001583	missense	25758							g.chr11:33612946A>G	U10991	CCDS44565.1, CCDS44565.2	11p13	2012-08-09	2012-08-09	2012-08-09	ENSG00000110427	ENSG00000110427			24836	protein-coding gene	gene with protein product		612297	"""chromosome 11 open reading frame 69"", ""chromosome 11 open reading frame 41"""	C11orf69, C11orf41			Standard	NM_012194		Approved	G2, MGC34830	uc021qfs.1	Q6ZVL6	OTTHUMG00000150410	ENST00000321505.4:c.3839A>G	11.37:g.33612946A>G	ENSP00000315295:p.Lys1280Arg					KIAA1549L_ENST00000389726.3_Missense_Mutation_p.K1286R|KIAA1549L_ENST00000265654.5_Intron	p.K1280R							11	4019	+								B0QYU0	Missense_Mutation	SNP	ENST00000321505.4	37	c.3839A>G	CCDS44565.2	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	A|A	14.62|14.62	2.589963|2.589963	0.46214|0.46214	.|.	.|.	ENSG00000110427|ENSG00000110427	ENST00000321505;ENST00000389726;ENST00000536568|ENST00000526400	.|.	.|.	.|.	5.6|5.6	5.6|5.6	0.85130|0.85130	.|.	0.482265|.	0.24681|.	N|.	0.036469|.	T|T	0.50956|0.50956	0.1646|0.1646	L|L	0.42686|0.42686	1.345|1.345	0.27820|0.27820	N|N	0.941846|0.941846	B|.	0.18166|.	0.026|.	B|.	0.23275|.	0.045|.	T|T	0.47886|0.47886	-0.9082|-0.9082	9|5	0.38643|.	T|.	0.18|.	-15.6985|-15.6985	15.7923|15.7923	0.78376|0.78376	1.0:0.0:0.0:0.0|1.0:0.0:0.0:0.0	.|.	1286|.	E9PAT2|.	.|.	R|D	1280;1286;1119|678	.|.	ENSP00000315295:K1280R|.	K|N	+|+	2|1	0|0	C11orf41|C11orf41	33569522|33569522	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.743000|0.743000	0.42351|0.42351	3.712000|3.712000	0.54875|0.54875	2.139000|2.139000	0.66308|0.66308	0.459000|0.459000	0.35465|0.35465	AAA|AAT		0.512	KIAA1549L-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000317998.1	NM_012194		25	60	0	0	0	1	0	25	60				
COL22A1	169044	broad.mit.edu	37	8	139620195	139620195	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr8:139620195C>T	ENST00000303045.6	-	57	4462	c.4016G>A	c.(4015-4017)gGc>gAc	p.G1339D	COL22A1_ENST00000435777.1_Missense_Mutation_p.G1319D|COL22A1_ENST00000341807.4_5'UTR	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	collagen, type XXII, alpha 1	1339	Collagen-like 13.|Gly-rich.|Pro-rich.				extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		BRCA - Breast invasive adenocarcinoma(115;0.0517)			TCCTGAAGGGCCAGGCTCTCC	0.532										HNSCC(7;0.00092)																												ENST00000303045.6																			0				breast(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(14)|large_intestine(29)|lung(107)|ovary(13)|pancreas(1)|prostate(3)|skin(12)|upper_aerodigestive_tract(15)|urinary_tract(4)	211						c.(4015-4017)gGc>gAc		collagen, type XXII, alpha 1							103.0	99.0	100.0					8																	139620195		2203	4300	6503	SO:0001583	missense	169044				cell adhesion	collagen|cytoplasm	structural molecule activity	g.chr8:139620195C>T	AF406780	CCDS6376.1	8q24.3	2013-01-16			ENSG00000169436	ENSG00000169436		"""Collagens"""	22989	protein-coding gene	gene with protein product		610026					Standard	NM_152888		Approved		uc003yvd.3	Q8NFW1	OTTHUMG00000150035	ENST00000303045.6:c.4016G>A	8.37:g.139620195C>T	ENSP00000303153:p.Gly1339Asp	HNSCC(7;0.00092)				COL22A1_ENST00000435777.1_Missense_Mutation_p.G1319D|COL22A1_ENST00000341807.4_5'UTR	p.G1339D	NM_152888.1	NP_690848.1	Q8NFW1	COMA1_HUMAN	BRCA - Breast invasive adenocarcinoma(115;0.0517)		57	4462	-	all_epithelial(106;1.55e-12)|Lung NSC(106;1.67e-05)|all_lung(105;3.39e-05)|Ovarian(258;0.00672)|Acute lymphoblastic leukemia(118;0.155)		1339			Collagen-like 13.|Gly-rich.|Pro-rich.		B7ZMH0|C9K0G4|Q8IVT9	Missense_Mutation	SNP	ENST00000303045.6	37	c.4016G>A	CCDS6376.1	.	.	.	.	.	.	.	.	.	.	C	18.65	3.669414	0.67814	.	.	ENSG00000169436	ENST00000303045;ENST00000435777;ENST00000545577	D;D	0.99619	-6.28;-6.28	5.57	5.57	0.84162	.	0.000000	0.50627	D	0.000104	D	0.99813	0.9918	H	0.98155	4.16	0.80722	D	1	B;D	0.89917	0.417;1.0	B;D	0.75020	0.284;0.985	D	0.96907	0.9664	10	0.87932	D	0	.	18.5507	0.91063	0.0:1.0:0.0:0.0	.	1319;1339	Q8NFW1-2;Q8NFW1	.;COMA1_HUMAN	D	1339;1319;1032	ENSP00000303153:G1339D;ENSP00000387655:G1319D	ENSP00000303153:G1339D	G	-	2	0	COL22A1	139689377	1.000000	0.71417	0.938000	0.37757	0.668000	0.39293	6.480000	0.73604	2.620000	0.88729	0.563000	0.77884	GGC		0.532	COL22A1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000315905.2	XM_291257		14	43	0	0	0	1	0	14	43				
MYH6	4624	broad.mit.edu	37	14	23866797	23866797	+	Silent	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr14:23866797G>A	ENST00000356287.3	-	15	1946	c.1917C>T	c.(1915-1917)ggC>ggT	p.G639G	MYH6_ENST00000405093.3_Silent_p.G639G			P13533	MYH6_HUMAN	myosin, heavy chain 6, cardiac muscle, alpha	639	Myosin motor.				adult heart development (GO:0007512)|ATP catabolic process (GO:0006200)|atrial cardiac muscle tissue morphogenesis (GO:0055009)|BMP signaling pathway (GO:0030509)|canonical Wnt signaling pathway (GO:0060070)|cardiac muscle fiber development (GO:0048739)|in utero embryonic development (GO:0001701)|muscle contraction (GO:0006936)|muscle filament sliding (GO:0030049)|myofibril assembly (GO:0030239)|regulation of ATPase activity (GO:0043462)|regulation of blood pressure (GO:0008217)|regulation of heart contraction (GO:0008016)|regulation of heart growth (GO:0060420)|regulation of heart rate (GO:0002027)|regulation of the force of heart contraction (GO:0002026)|sarcomere organization (GO:0045214)|striated muscle contraction (GO:0006941)|ventricular cardiac muscle tissue morphogenesis (GO:0055010)|visceral muscle development (GO:0007522)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|focal adhesion (GO:0005925)|muscle myosin complex (GO:0005859)|myofibril (GO:0030016)|myosin complex (GO:0016459)|myosin filament (GO:0032982)|nucleus (GO:0005634)|sarcomere (GO:0030017)|stress fiber (GO:0001725)|Z disc (GO:0030018)	actin-dependent ATPase activity (GO:0030898)|ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microfilament motor activity (GO:0000146)|protein kinase binding (GO:0019901)			breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119	all_cancers(95;2.54e-05)			GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)		CCTTTTTCTTGCCTCCTTTGC	0.562																																						ENST00000405093.3																			0				breast(4)|cervix(2)|endometrium(8)|kidney(2)|large_intestine(16)|liver(1)|lung(60)|ovary(2)|pancreas(3)|prostate(6)|skin(6)|stomach(3)|upper_aerodigestive_tract(4)|urinary_tract(2)	119						c.(1915-1917)ggC>ggT		myosin, heavy chain 6, cardiac muscle, alpha							96.0	91.0	93.0					14																	23866797		2203	4300	6503	SO:0001819	synonymous_variant	4624				adult heart development|atrial cardiac muscle tissue morphogenesis|cardiac muscle fiber development|in utero embryonic development|muscle filament sliding|regulation of ATPase activity|regulation of blood pressure|regulation of heart rate|regulation of the force of heart contraction|sarcomere organization|striated muscle contraction|ventricular cardiac muscle tissue morphogenesis|visceral muscle development	cytosol|focal adhesion|muscle myosin complex|myosin filament|nucleus|sarcomere	actin binding|actin-dependent ATPase activity|ATP binding|calmodulin binding|microfilament motor activity|protein kinase binding|structural constituent of muscle	g.chr14:23866797G>A	D00943	CCDS9600.1	14q11.2-q13	2014-09-17	2008-08-01		ENSG00000197616	ENSG00000197616		"""Myosins / Myosin superfamily : Class II"""	7576	protein-coding gene	gene with protein product	"""cardiomyopathy, hypertrophic 1"""	160710	"""myosin, heavy polypeptide 6, cardiac muscle, alpha (cardiomyopathy, hypertrophic 1)"""			2144212	Standard	NM_002471		Approved		uc001wjv.3	P13533	OTTHUMG00000028753	ENST00000356287.3:c.1917C>T	14.37:g.23866797G>A						MYH6_ENST00000356287.3_Silent_p.G639G	p.G639G	NM_002471.3	NP_002462.2	P13533	MYH6_HUMAN		GBM - Glioblastoma multiforme(265;0.00764)|READ - Rectum adenocarcinoma(4;0.0289)|Colorectal(4;0.0441)	16	1987	-	all_cancers(95;2.54e-05)		639			Myosin head-like.		A2RTX1|D9YZU2|Q13943|Q14906|Q14907	Silent	SNP	ENST00000356287.3	37	c.1917C>T	CCDS9600.1																																																																																				0.562	MYH6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000071796.3			23	32	0	0	0	1	0	23	32				
KRTAP12-2	353323	broad.mit.edu	37	21	46086604	46086604	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr21:46086604G>T	ENST00000360770.3	-	1	240	c.200C>A	c.(199-201)cCc>cAc	p.P67H	TSPEAR_ENST00000323084.4_Intron	NM_181684.2	NP_859012.1	P59991	KR122_HUMAN	keratin associated protein 12-2	67	23 X 5 AA approximate repeats.					keratin filament (GO:0045095)				central_nervous_system(1)|endometrium(1)|lung(3)	5						GAAGCTCATGGGCACACACAC	0.627																																						ENST00000360770.3																			0				central_nervous_system(1)|endometrium(1)|lung(3)	5						c.(199-201)cCc>cAc		keratin associated protein 12-2							84.0	93.0	90.0					21																	46086604		2193	4288	6481	SO:0001583	missense	353323					keratin filament		g.chr21:46086604G>T	AJ566389	CCDS42965.1	21q22.3	2006-03-13			ENSG00000221864	ENSG00000221864		"""Keratin associated proteins"""	20530	protein-coding gene	gene with protein product							Standard	NM_181684		Approved	KRTAP12.2, KAP12.2	uc002zfu.3	P59991	OTTHUMG00000057636	ENST00000360770.3:c.200C>A	21.37:g.46086604G>T	ENSP00000354001:p.Pro67His					TSPEAR_ENST00000323084.4_Intron	p.P67H	NM_181684.2	NP_859012.1	P59991	KR122_HUMAN			1	240	-			67			23 X 5 AA approximate repeats.		A6NIS1|A6NMS9|Q0VAS4	Missense_Mutation	SNP	ENST00000360770.3	37	c.200C>A	CCDS42965.1	.	.	.	.	.	.	.	.	.	.	g	18.36	3.606057	0.66445	.	.	ENSG00000221864	ENST00000360770	T	0.02974	4.09	3.94	3.94	0.45596	.	.	.	.	.	T	0.19886	0.0478	M	0.91561	3.22	0.09310	N	0.999999	D	0.89917	1.0	D	0.79784	0.993	T	0.03662	-1.1015	9	0.87932	D	0	.	13.662	0.62372	0.0:0.0:1.0:0.0	.	67	P59991	KR122_HUMAN	H	67	ENSP00000354001:P67H	ENSP00000354001:P67H	P	-	2	0	KRTAP12-2	44911032	0.735000	0.28153	0.010000	0.14722	0.320000	0.28249	2.020000	0.41010	2.073000	0.62155	0.391000	0.25812	CCC		0.627	KRTAP12-2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128039.1	NM_181684		22	62	1	0	4.35082e-09	1	4.74494e-09	22	62				
CEP104	9731	broad.mit.edu	37	1	3751648	3751648	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:3751648C>A	ENST00000378230.3	-	11	1650	c.1326G>T	c.(1324-1326)gaG>gaT	p.E442D	CEP104_ENST00000460038.1_5'UTR	NM_014704.3	NP_055519.1	O60308	CE104_HUMAN	centrosomal protein 104kDa	442						centriole (GO:0005814)	glutamate binding (GO:0016595)|glycine binding (GO:0016594)|thienylcyclohexylpiperidine binding (GO:0016596)			breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						TACAATAGGCCTCAGCAACCT	0.418																																						ENST00000378230.3																			0				breast(2)|cervix(1)|endometrium(9)|kidney(1)|large_intestine(14)|lung(8)|prostate(1)|skin(3)	39						c.(1324-1326)gaG>gaT		centrosomal protein 104kDa							65.0	59.0	61.0					1																	3751648		2203	4300	6503	SO:0001583	missense	9731					centriole	binding	g.chr1:3751648C>A	AB011134	CCDS30571.1	1p36.32	2014-02-20	2011-05-06	2011-05-06	ENSG00000116198	ENSG00000116198			24866	protein-coding gene	gene with protein product	"""glycine, glutamate, thienylcyclohexylpiperidine binding protein"""		"""KIAA0562"""	KIAA0562		7488117, 21399614	Standard	NM_014704		Approved	GlyBP, RP1-286D6.4	uc001aky.2	O60308	OTTHUMG00000003507	ENST00000378230.3:c.1326G>T	1.37:g.3751648C>A	ENSP00000367476:p.Glu442Asp					CEP104_ENST00000460038.1_5'UTR	p.E442D	NM_014704.3	NP_055519.1	O60308	CE104_HUMAN			11	1650	-			442					Q5JSQ3|Q5SR24|Q5SR25|Q6PKF5|Q86W32|Q86X14	Missense_Mutation	SNP	ENST00000378230.3	37	c.1326G>T	CCDS30571.1	.	.	.	.	.	.	.	.	.	.	C	8.697	0.908860	0.17833	.	.	ENSG00000116198	ENST00000378230;ENST00000443466	T;T	0.17691	2.26;2.26	4.8	-1.18	0.09617	Armadillo-type fold (1);	0.187508	0.46442	D	0.000290	T	0.04998	0.0134	N	0.08118	0	0.80722	D	1	B;B	0.24882	0.113;0.005	B;B	0.22753	0.041;0.012	T	0.35276	-0.9795	10	0.15066	T	0.55	.	0.709	0.00921	0.1734:0.2417:0.1711:0.4137	.	442;442	O60308-3;O60308	.;CE104_HUMAN	D	442;136	ENSP00000367476:E442D;ENSP00000411927:E136D	ENSP00000367476:E442D	E	-	3	2	CEP104	3741508	0.844000	0.29557	0.664000	0.29753	0.005000	0.04900	-0.106000	0.10890	0.104000	0.17725	-0.254000	0.11334	GAG		0.418	CEP104-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009747.3	NM_014704		6	16	1	0	2.0095e-06	1	2.13466e-06	6	16				
ADCY1	107	broad.mit.edu	37	7	45688285	45688285	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:45688285G>A	ENST00000297323.7	+	5	1059	c.1037G>A	c.(1036-1038)cGc>cAc	p.R346H	ADCY1_ENST00000432715.1_Missense_Mutation_p.R121H	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN	adenylate cyclase 1 (brain)	346					activation of phospholipase C activity (GO:0007202)|activation of protein kinase A activity (GO:0034199)|adenylate cyclase-activating G-protein coupled receptor signaling pathway (GO:0007189)|adenylate cyclase-inhibiting G-protein coupled receptor signaling pathway (GO:0007193)|axonogenesis (GO:0007409)|cellular response to glucagon stimulus (GO:0071377)|circadian rhythm (GO:0007623)|energy reserve metabolic process (GO:0006112)|epidermal growth factor receptor signaling pathway (GO:0007173)|fibroblast growth factor receptor signaling pathway (GO:0008543)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|long-term memory (GO:0007616)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of circadian rhythm (GO:0042752)|response to drug (GO:0042493)|response to lithium ion (GO:0010226)|signal transduction (GO:0007165)|small molecule metabolic process (GO:0044281)|synaptic transmission (GO:0007268)|transmembrane transport (GO:0055085)|water transport (GO:0006833)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|calcium- and calmodulin-responsive adenylate cyclase activity (GO:0008294)|metal ion binding (GO:0046872)			breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71					Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)	CACTGTCGCCGCATCAAGATT	0.587																																						ENST00000297323.7																			0				breast(3)|central_nervous_system(1)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(14)|lung(33)|ovary(4)|prostate(3)|skin(4)|upper_aerodigestive_tract(1)	71						c.(1036-1038)cGc>cAc		adenylate cyclase 1 (brain)	Adenosine monophosphate(DB00131)|Adenosine triphosphate(DB00171)|Adenosine(DB00640)						103.0	87.0	92.0					7																	45688285		2203	4300	6503	SO:0001583	missense	107				activation of adenylate cyclase activity by G-protein signaling pathway|activation of phospholipase C activity|activation of protein kinase A activity|cellular response to glucagon stimulus|energy reserve metabolic process|inhibition of adenylate cyclase activity by G-protein signaling pathway|nerve growth factor receptor signaling pathway|synaptic transmission|transmembrane transport|water transport	integral to membrane|plasma membrane	ATP binding|calcium- and calmodulin-responsive adenylate cyclase activity|calmodulin binding|metal ion binding	g.chr7:45688285G>A	L05500	CCDS34631.1, CCDS75593.1	7p13-p12	2013-02-04			ENSG00000164742	ENSG00000164742	4.6.1.1	"""Adenylate cyclases"""	232	protein-coding gene	gene with protein product		103072				8314585	Standard	NM_021116		Approved	AC1	uc003tne.4	Q08828	OTTHUMG00000155420	ENST00000297323.7:c.1037G>A	7.37:g.45688285G>A	ENSP00000297323:p.Arg346His					ADCY1_ENST00000432715.1_Missense_Mutation_p.R121H	p.R346H	NM_021116.2	NP_066939.1	Q08828	ADCY1_HUMAN			5	1059	+			346					A4D2L8|Q75MI1	Missense_Mutation	SNP	ENST00000297323.7	37	c.1037G>A	CCDS34631.1	.	.	.	.	.	.	.	.	.	.	G	25.8	4.673952	0.88445	.	.	ENSG00000164742	ENST00000432715;ENST00000297323;ENST00000545300	D;D	0.81579	-1.51;-1.51	3.91	3.91	0.45181	Adenylyl cyclase class-3/4/guanylyl cyclase (5);	0.000000	0.85682	D	0.000000	D	0.92074	0.7488	H	0.95574	3.69	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;0.997	D	0.94103	0.7364	10	0.87932	D	0	.	13.4729	0.61290	0.0:0.0:1.0:0.0	.	346;121	Q08828;C9J1J0	ADCY1_HUMAN;.	H	121;346;346	ENSP00000392721:R121H;ENSP00000297323:R346H	ENSP00000297323:R346H	R	+	2	0	ADCY1	45654810	1.000000	0.71417	0.997000	0.53966	0.954000	0.61252	8.906000	0.92626	2.028000	0.59812	0.561000	0.74099	CGC		0.587	ADCY1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340055.2	NM_021116		21	45	0	0	0	1	0	21	45				
SLC39A12	221074	broad.mit.edu	37	10	18276462	18276462	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr10:18276462G>A	ENST00000377369.2	+	7	1424	c.1151G>A	c.(1150-1152)gGg>gAg	p.G384E	SLC39A12_ENST00000539911.1_Missense_Mutation_p.G250E|SLC39A12_ENST00000377371.3_Missense_Mutation_p.G384E|SLC39A12_ENST00000377374.4_Missense_Mutation_p.G384E	NM_001145195.1|NM_001282733.1|NM_001282734.1	NP_001138667.1|NP_001269662.1|NP_001269663.1	Q504Y0	S39AC_HUMAN	solute carrier family 39 (zinc transporter), member 12	384					regulation of microtubule polymerization (GO:0031113)|regulation of neuron projection development (GO:0010975)|signal transduction (GO:0007165)|zinc ion transmembrane import (GO:0071578)	integral component of membrane (GO:0016021)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)|vesicle (GO:0031982)	zinc ion transmembrane transporter activity (GO:0005385)			NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						TCCATGCTGGGGACAGCGCTG	0.562																																						ENST00000377369.2																			0				NS(1)|breast(4)|central_nervous_system(1)|cervix(1)|kidney(3)|large_intestine(5)|lung(38)|ovary(3)|prostate(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	60						c.(1150-1152)gGg>gAg		solute carrier family 39 (zinc transporter), member 12							149.0	114.0	126.0					10																	18276462		2203	4300	6503	SO:0001583	missense	221074				zinc ion transport	integral to membrane	metal ion transmembrane transporter activity	g.chr10:18276462G>A		CCDS7124.1, CCDS44362.1, CCDS60493.1, CCDS60494.1	10p12.33	2013-05-22			ENSG00000148482	ENSG00000148482		"""Solute carriers"""	20860	protein-coding gene	gene with protein product		608734	"""solute carrier family 39 (metal ion transporter), member 12"""			12659941	Standard	NM_152725		Approved	FLJ30499	uc001ipo.2	Q504Y0	OTTHUMG00000017759	ENST00000377369.2:c.1151G>A	10.37:g.18276462G>A	ENSP00000366586:p.Gly384Glu					SLC39A12_ENST00000377374.4_Missense_Mutation_p.G384E|SLC39A12_ENST00000539911.1_Missense_Mutation_p.G250E|SLC39A12_ENST00000377371.3_Missense_Mutation_p.G384E	p.G384E	NM_001145195.1	NP_001138667.1	Q504Y0	S39AC_HUMAN			7	1424	+			384					B7ZL35|C9JJL4|Q49AN8|Q4G0L3|Q5VWV8|Q5VWV9|Q6NZY5|Q96NN4	Missense_Mutation	SNP	ENST00000377369.2	37	c.1151G>A	CCDS44362.1	.	.	.	.	.	.	.	.	.	.	G	28.5	4.929858	0.92389	.	.	ENSG00000148482	ENST00000377369;ENST00000377374;ENST00000377371;ENST00000539911;ENST00000425219	T;T;T;T	0.53206	0.63;0.63;0.63;0.63	5.84	5.84	0.93424	.	0.160014	0.56097	D	0.000030	T	0.78666	0.4319	M	0.93507	3.425	0.80722	D	1	D;D;D	0.89917	1.0;1.0;1.0	D;D;D	0.97110	1.0;1.0;1.0	T	0.83196	-0.0081	10	0.72032	D	0.01	-12.7755	20.1379	0.98040	0.0:0.0:1.0:0.0	.	384;384;384	Q504Y0-4;Q504Y0;Q504Y0-3	.;S39AC_HUMAN;.	E	384;384;384;250;304	ENSP00000366586:G384E;ENSP00000366591:G384E;ENSP00000366588:G384E;ENSP00000440445:G250E	ENSP00000366586:G384E	G	+	2	0	SLC39A12	18316468	1.000000	0.71417	0.995000	0.50966	0.871000	0.50021	9.127000	0.94417	2.779000	0.95612	0.655000	0.94253	GGG		0.562	SLC39A12-201	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding		NM_152725		31	22	0	0	0	1	0	31	22				
MAG	4099	broad.mit.edu	37	19	35804289	35804289	+	Missense_Mutation	SNP	C	C	T	rs73031735		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:35804289C>T	ENST00000392213.3	+	11	1972	c.1813C>T	c.(1813-1815)Cgg>Tgg	p.R605W	MAG_ENST00000361922.4_3'UTR|MAG_ENST00000537831.2_Missense_Mutation_p.R580W	NM_002361.3	NP_002352.1	P20916	MAG_HUMAN	myelin associated glycoprotein	605					blood coagulation (GO:0007596)|cell adhesion (GO:0007155)|leukocyte migration (GO:0050900)|negative regulation of axonogenesis (GO:0050771)|neurotrophin TRK receptor signaling pathway (GO:0048011)|regulation of axonogenesis (GO:0050770)|substantia nigra development (GO:0021762)	integral component of membrane (GO:0016021)|paranode region of axon (GO:0033270)|plasma membrane (GO:0005886)|Schmidt-Lanterman incisure (GO:0043220)	carbohydrate binding (GO:0030246)			NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)			CCTGGGGAAACGGCCCACCAA	0.632																																						ENST00000392213.3																			0				NS(1)|breast(4)|central_nervous_system(1)|endometrium(3)|large_intestine(10)|lung(11)|skin(2)|upper_aerodigestive_tract(2)	34						c.(1813-1815)Cgg>Tgg		myelin associated glycoprotein		C	TRP/ARG,TRP/ARG,	2,4404	4.2+/-10.8	0,2,2201	85.0	74.0	78.0		1738,1813,	4.7	1.0	19	dbSNP_130	78	1,8599	1.2+/-3.3	0,1,4299	yes	missense,missense,utr-3	MAG	NM_001199216.1,NM_002361.3,NM_080600.2	101,101,	0,3,6500	TT,TC,CC		0.0116,0.0454,0.0231	probably-damaging,probably-damaging,	580/602,605/627,	35804289	3,13003	2203	4300	6503	SO:0001583	missense	4099				blood coagulation|cell adhesion|leukocyte migration|negative regulation of axonogenesis|nerve growth factor receptor signaling pathway	integral to membrane|plasma membrane	sugar binding	g.chr19:35804289C>T	M29273	CCDS12455.1, CCDS12456.1, CCDS56090.1	19q13.1	2013-01-29			ENSG00000105695	ENSG00000105695		"""Sialic acid binding Ig-like lectins"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	6783	protein-coding gene	gene with protein product	"""sialic acid binding Ig-like lectin 4A"""	159460		GMA		2476987, 8432525	Standard	NM_080600		Approved	SIGLEC4A, SIGLEC-4A, S-MAG	uc002nyy.2	P20916		ENST00000392213.3:c.1813C>T	19.37:g.35804289C>T	ENSP00000376048:p.Arg605Trp					MAG_ENST00000537831.2_Missense_Mutation_p.R580W|MAG_ENST00000361922.4_3'UTR	p.R605W	NM_002361.3	NP_002352.1	P20916	MAG_HUMAN	Epithelial(14;3.14e-19)|OV - Ovarian serous cystadenocarcinoma(14;1.5e-18)|all cancers(14;1.5e-16)|LUSC - Lung squamous cell carcinoma(66;0.0417)		11	1972	+	all_lung(56;2.37e-08)|Lung NSC(56;3.66e-08)|Esophageal squamous(110;0.162)	Renal(1328;0.242)	605					B7Z2E5|F5GYC0|Q567S4	Missense_Mutation	SNP	ENST00000392213.3	37	c.1813C>T	CCDS12455.1	0	0.0	0	0.0	0	0.0	0	0.0	0	0.0	C	20.5	3.995669	0.74703	4.54E-4	1.16E-4	ENSG00000105695	ENST00000262624;ENST00000392213;ENST00000537831	T;T	0.67171	-0.25;-0.16	4.7	4.7	0.59300	.	0.000000	0.64402	D	0.000001	T	0.67832	0.2935	N	0.19112	0.55	0.40089	D	0.976239	D;D	0.89917	1.0;1.0	D;D	0.71414	0.973;0.973	T	0.68300	-0.5445	10	0.37606	T	0.19	.	12.9973	0.58654	0.0:1.0:0.0:0.0	.	642;605	Q59GD9;P20916	.;MAG_HUMAN	W	642;605;580	ENSP00000376048:R605W;ENSP00000440695:R580W	ENSP00000262624:R642W	R	+	1	2	MAG	40496129	0.704000	0.27836	0.996000	0.52242	0.929000	0.56500	1.109000	0.31135	2.432000	0.82394	0.561000	0.74099	CGG		0.632	MAG-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000466071.1	NM_080600		21	70	0	0	0	1	0	21	70				
RTTN	25914	broad.mit.edu	37	18	67836150	67836150	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr18:67836150C>T	ENST00000255674.6	-	12	1916	c.1630G>A	c.(1630-1632)Gca>Aca	p.A544T	RTTN_ENST00000454359.1_Missense_Mutation_p.A544T|RTTN_ENST00000437017.1_Missense_Mutation_p.A544T	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN	rotatin	544					determination of left/right symmetry (GO:0007368)	ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Esophageal squamous(42;0.129)				ACGGCCTCTGCAGTTCGTTTA	0.353																																						ENST00000255674.6																			0				NS(1)|breast(3)|central_nervous_system(2)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(5)|large_intestine(9)|lung(35)|ovary(4)|pancreas(2)|prostate(1)|skin(3)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(1630-1632)Gca>Aca		rotatin							90.0	89.0	90.0					18																	67836150		1801	4071	5872	SO:0001583	missense	25914						binding	g.chr18:67836150C>T	AL117635	CCDS42443.1	18q22.1	2008-08-01				ENSG00000176225			18654	protein-coding gene	gene with protein product		610436				11900971	Standard	NM_173630		Approved	DKFZP434G145	uc002lkp.2	Q86VV8		ENST00000255674.6:c.1630G>A	18.37:g.67836150C>T	ENSP00000255674:p.Ala544Thr					RTTN_ENST00000437017.1_Missense_Mutation_p.A544T|RTTN_ENST00000454359.1_Missense_Mutation_p.A544T	p.A544T	NM_173630.3	NP_775901.3	Q86VV8	RTTN_HUMAN			12	1916	-		Esophageal squamous(42;0.129)	544					Q68CS9|Q6ZRL8|Q6ZTK3|Q86TG4|Q8N8N8|Q8TBQ4|Q96IN9|Q9UFJ4	Missense_Mutation	SNP	ENST00000255674.6	37	c.1630G>A	CCDS42443.1	.	.	.	.	.	.	.	.	.	.	C	12.08	1.830513	0.32329	.	.	ENSG00000176225	ENST00000255674;ENST00000454359;ENST00000437017	T;T;T	0.67171	3.43;-0.25;-0.25	5.67	5.67	0.87782	Armadillo-type fold (1);	0.131420	0.53938	D	0.000049	T	0.60547	0.2277	L	0.36672	1.1	0.32971	D	0.522286	P;P	0.51351	0.944;0.68	P;B	0.48270	0.572;0.165	T	0.62338	-0.6875	10	0.11485	T	0.65	.	13.7275	0.62767	0.2569:0.7431:0.0:0.0	.	544;544	Q86VV8-2;Q86VV8	.;RTTN_HUMAN	T	544	ENSP00000255674:A544T;ENSP00000402352:A544T;ENSP00000399520:A544T	ENSP00000255674:A544T	A	-	1	0	RTTN	65987130	0.996000	0.38824	1.000000	0.80357	0.974000	0.67602	0.847000	0.27696	2.665000	0.90641	0.591000	0.81541	GCA		0.353	RTTN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000442988.1	NM_173630		24	40	0	0	0	1	0	24	40				
FKBP15	23307	broad.mit.edu	37	9	115956325	115956325	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr9:115956325G>A	ENST00000238256.3	-	10	1106	c.989C>T	c.(988-990)tCa>tTa	p.S330L		NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN	FK506 binding protein 15, 133kDa	330					endocytosis (GO:0006897)|negative regulation of phosphatase activity (GO:0010923)|protein folding (GO:0006457)	actin filament (GO:0005884)|axon (GO:0030424)|endosome (GO:0005768)|growth cone (GO:0030426)|membrane (GO:0016020)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						GAAAGGTATTGATGTGGGTGG	0.443																																						ENST00000238256.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(3)|lung(9)|ovary(3)|urinary_tract(1)	26						c.(988-990)tCa>tTa		FK506 binding protein 15, 133kDa							116.0	116.0	116.0					9																	115956325		1977	4158	6135	SO:0001583	missense	23307				endocytosis|protein folding	axon|early endosome	actin binding	g.chr9:115956325G>A	AB014574	CCDS48007.1	9q33.1	2014-05-09	2006-10-31	2006-10-31	ENSG00000119321	ENSG00000119321		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	23397	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 76"", ""WASP and FKBP-like protein"""		"""KIAA0674"""	KIAA0674		16756961, 20376207	Standard	NM_015258		Approved	PPP1R76, FKBP133, WAFL	uc004bgs.2	Q5T1M5	OTTHUMG00000020518	ENST00000238256.3:c.989C>T	9.37:g.115956325G>A	ENSP00000238256:p.Ser330Leu						p.S330L	NM_015258.1	NP_056073.1	Q5T1M5	FKB15_HUMAN			10	1106	-			330					Q05DK8|Q5T1M2|Q6DD85|Q9Y4D0	Missense_Mutation	SNP	ENST00000238256.3	37	c.989C>T	CCDS48007.1	.	.	.	.	.	.	.	.	.	.	G	16.58	3.161588	0.57368	.	.	ENSG00000119321	ENST00000446284;ENST00000238256;ENST00000414250	T;T;T	0.33438	1.8;1.81;1.41	5.7	5.7	0.88788	.	.	.	.	.	T	0.36744	0.0978	L	0.59436	1.845	0.30465	N	0.773902	P;P;P	0.44195	0.828;0.682;0.736	B;B;B	0.42771	0.397;0.234;0.223	T	0.42413	-0.9453	9	0.54805	T	0.06	-0.9074	15.3412	0.74300	0.0:0.0:1.0:0.0	.	330;330;330	Q5T1M5-2;Q5T1M5-3;Q5T1M5	.;.;FKB15_HUMAN	L	355;330;355	ENSP00000416158:S355L;ENSP00000238256:S330L;ENSP00000415733:S355L	ENSP00000238256:S330L	S	-	2	0	FKBP15	114996146	0.876000	0.30132	0.519000	0.27824	0.641000	0.38312	5.531000	0.67148	2.683000	0.91414	0.655000	0.94253	TCA		0.443	FKBP15-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_015258		23	55	0	0	0	1	0	23	55				
SLC30A4	7782	broad.mit.edu	37	15	45783053	45783053	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr15:45783053G>T	ENST00000261867.4	-	4	879	c.565C>A	c.(565-567)Ctg>Atg	p.L189M	RP11-519G16.3_ENST00000558536.1_RNA|snoU13_ENST00000459592.1_RNA|RP11-519G16.3_ENST00000560647.1_RNA	NM_013309.4	NP_037441.2	O14863	ZNT4_HUMAN	solute carrier family 30 (zinc transporter), member 4	189					regulation of sequestering of zinc ion (GO:0061088)|response to toxic substance (GO:0009636)|zinc ion homeostasis (GO:0055069)|zinc ion transmembrane transport (GO:0071577)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)	zinc ion transmembrane transporter activity (GO:0005385)	p.L189L(1)		endometrium(3)|large_intestine(2)|lung(8)|prostate(1)|stomach(1)	15		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)		all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06)		TACACCAACAGCACACTAATC	0.333																																						ENST00000261867.4																			1	Substitution - coding silent(1)	p.L189L(1)	endometrium(1)	endometrium(3)|large_intestine(2)|lung(8)|prostate(1)|stomach(1)	15						c.(565-567)Ctg>Atg		solute carrier family 30 (zinc transporter), member 4							93.0	89.0	91.0					15																	45783053		2198	4298	6496	SO:0001583	missense	7782				regulation of sequestering of zinc ion|response to toxin	endosome membrane|integral to membrane|late endosome	zinc ion transmembrane transporter activity	g.chr15:45783053G>T		CCDS10125.1	15q21.1	2013-05-22			ENSG00000104154	ENSG00000104154		"""Solute carriers"""	11015	protein-coding gene	gene with protein product		602095		ZNT4			Standard	NM_013309		Approved		uc001zvj.3	O14863	OTTHUMG00000131439	ENST00000261867.4:c.565C>A	15.37:g.45783053G>T	ENSP00000261867:p.Leu189Met					RP11-519G16.3_ENST00000560647.1_RNA|RP11-519G16.3_ENST00000558536.1_RNA	p.L189M	NM_013309.4	NP_037441.2	O14863	ZNT4_HUMAN		all cancers(107;1.58e-16)|GBM - Glioblastoma multiforme(94;2.15e-06)	4	879	-		Lung NSC(122;3.55e-06)|all_lung(180;2.56e-05)|Melanoma(134;0.027)	189					Q8TC39	Missense_Mutation	SNP	ENST00000261867.4	37	c.565C>A	CCDS10125.1	.	.	.	.	.	.	.	.	.	.	G	13.03	2.115942	0.37339	.	.	ENSG00000104154	ENST00000261867	T	0.66995	-0.24	5.71	3.78	0.43462	.	0.328550	0.30401	N	0.009715	T	0.58581	0.2132	L	0.50847	1.595	0.27637	N	0.947854	B	0.19200	0.034	B	0.26416	0.069	T	0.54125	-0.8340	10	0.48119	T	0.1	-6.9438	7.4819	0.27411	0.0774:0.0:0.6178:0.3048	.	189	O14863	ZNT4_HUMAN	M	189	ENSP00000261867:L189M	ENSP00000261867:L189M	L	-	1	2	SLC30A4	43570345	0.988000	0.35896	0.995000	0.50966	0.996000	0.88848	1.732000	0.38146	0.714000	0.32081	0.580000	0.79431	CTG		0.333	SLC30A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000254236.1			19	28	1	0	4.35082e-09	1	4.74494e-09	19	28				
ABCC12	94160	broad.mit.edu	37	16	48138103	48138103	+	Silent	SNP	A	A	G			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr16:48138103A>G	ENST00000311303.3	-	20	3195	c.2850T>C	c.(2848-2850)gcT>gcC	p.A950A	ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000448542.1_Intron	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN	ATP-binding cassette, sub-family C (CFTR/MRP), member 12	950	ABC transmembrane type-1 2. {ECO:0000255|PROSITE-ProRule:PRU00441}.					integral component of membrane (GO:0016021)	ATP binding (GO:0005524)|ATPase activity, coupled to transmembrane movement of substances (GO:0042626)			NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90		all_cancers(37;0.0474)|all_lung(18;0.047)				CTAAAAGGACAGCAGGAAACA	0.483																																						ENST00000311303.3																			0				NS(1)|breast(5)|endometrium(9)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(15)|liver(1)|lung(43)|ovary(2)|prostate(3)|skin(7)|urinary_tract(1)	90						c.(2848-2850)gcT>gcC		ATP-binding cassette, sub-family C (CFTR/MRP), member 12							143.0	139.0	141.0					16																	48138103		2201	4300	6501	SO:0001819	synonymous_variant	94160					integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of substances	g.chr16:48138103A>G	AY040220	CCDS10730.1	16q12.1	2012-03-14			ENSG00000140798	ENSG00000140798		"""ATP binding cassette transporters / subfamily C"""	14640	protein-coding gene	gene with protein product		607041				11435397, 11483364	Standard	NM_033226		Approved	MRP9	uc002efc.1	Q96J65	OTTHUMG00000133143	ENST00000311303.3:c.2850T>C	16.37:g.48138103A>G						ABCC12_ENST00000416054.1_3'UTR|ABCC12_ENST00000448542.1_Intron	p.A950A	NM_033226.2	NP_150229.2	Q96J65	MRP9_HUMAN			20	3195	-		all_cancers(37;0.0474)|all_lung(18;0.047)	950			ABC transmembrane type-1 2.		Q49AL2|Q8TAF0|Q8TEY2	Silent	SNP	ENST00000311303.3	37	c.2850T>C	CCDS10730.1																																																																																				0.483	ABCC12-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256837.1	NM_033226		25	68	0	0	0	1	0	25	68				
LRIT3	345193	broad.mit.edu	37	4	110791242	110791242	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr4:110791242A>G	ENST00000594814.1	+	4	1337	c.1337A>G	c.(1336-1338)cAa>cGa	p.Q446R	LRIT3_ENST00000327908.3_Missense_Mutation_p.Q263R|LRIT3_ENST00000409621.2_Missense_Mutation_p.Q263R|LRIT3_ENST00000379920.3_Missense_Mutation_p.Q401R	NM_198506.3	NP_940908.3	Q3SXY7	LRIT3_HUMAN	leucine-rich repeat, immunoglobulin-like and transmembrane domains 3	446					regulation of fibroblast growth factor receptor signaling pathway (GO:0040036)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16				OV - Ovarian serous cystadenocarcinoma(123;0.0011)		CAGCTCCACCAAGGTGGGAAA	0.463																																						ENST00000327908.3																			0				cervix(1)|kidney(1)|large_intestine(3)|lung(8)|prostate(2)|skin(1)	16						c.(787-789)cAa>cGa		leucine-rich repeat, immunoglobulin-like and transmembrane domains 3							83.0	85.0	84.0					4																	110791242		2203	4300	6503	SO:0001583	missense	345193					integral to membrane		g.chr4:110791242A>G	AK126648	CCDS3688.2, CCDS3688.3	4q25	2014-01-28	2007-06-19		ENSG00000183423	ENSG00000183423		"""Immunoglobulin superfamily / I-set domain containing"""	24783	protein-coding gene	gene with protein product	"""fibronectin type III, immunoglobulin and leucine rich repeat domains 4"""	615004					Standard	NM_198506		Approved	FLJ44691, FIGLER4, CSNB1F	uc031sgv.1	Q3SXY7	OTTHUMG00000132043	ENST00000594814.1:c.1337A>G	4.37:g.110791242A>G	ENSP00000469759:p.Gln446Arg					LRIT3_ENST00000409621.2_Missense_Mutation_p.Q263R|LRIT3_ENST00000594814.1_Missense_Mutation_p.Q446R|LRIT3_ENST00000379920.3_Missense_Mutation_p.Q401R	p.Q263R			Q3SXY7	LRIT3_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;0.0011)	4	1552	+			401			Ig-like.		C9J1C2|Q6ZTG1	Missense_Mutation	SNP	ENST00000594814.1	37	c.788A>G	CCDS3688.3	.	.	.	.	.	.	.	.	.	.	a	0.163	-1.079306	0.01903	.	.	ENSG00000183423	ENST00000327908;ENST00000379920;ENST00000409621	T;T;T	0.57107	0.42;0.59;0.42	4.45	3.61	0.41365	.	0.646305	0.16336	N	0.218924	T	0.29355	0.0731	N	0.08118	0	0.09310	N	0.999999	B;B	0.06786	0.001;0.001	B;B	0.01281	0.0;0.0	T	0.15896	-1.0421	10	0.21540	T	0.41	.	9.2636	0.37627	0.1451:0.7767:0.0:0.0783	.	401;263	Q3SXY7;Q3SXY7-2	LRIT3_HUMAN;.	R	263;401;263	ENSP00000328222:Q263R;ENSP00000369252:Q401R;ENSP00000386734:Q263R	ENSP00000328222:Q263R	Q	+	2	0	LRIT3	111010691	0.000000	0.05858	0.250000	0.24296	0.029000	0.11900	-0.096000	0.11059	0.870000	0.35726	-0.126000	0.14955	CAA		0.463	LRIT3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335270.2	NM_198506		29	57	0	0	0	1	0	29	57				
SHANK1	50944	broad.mit.edu	37	19	51165434	51165434	+	Missense_Mutation	SNP	C	C	T	rs201633631		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:51165434C>T	ENST00000293441.1	-	23	6292	c.6274G>A	c.(6274-6276)Gct>Act	p.A2092T	SHANK1_ENST00000359082.3_Missense_Mutation_p.A2083T|SHANK1_ENST00000391813.1_Missense_Mutation_p.A1479T|SHANK1_ENST00000391814.1_Missense_Mutation_p.A2100T|SYT3_ENST00000544769.1_Intron|SHANK1_ENST00000483981.2_5'Flank	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN	SH3 and multiple ankyrin repeat domains 1	2092					adult behavior (GO:0030534)|associative learning (GO:0008306)|cytoskeletal anchoring at plasma membrane (GO:0007016)|dendritic spine morphogenesis (GO:0060997)|determination of affect (GO:0050894)|habituation (GO:0046959)|long-term memory (GO:0007616)|negative regulation of actin filament bundle assembly (GO:0032232)|neuromuscular process controlling balance (GO:0050885)|olfactory behavior (GO:0042048)|positive regulation of dendritic spine development (GO:0060999)|positive regulation of excitatory postsynaptic membrane potential (GO:2000463)|protein complex assembly (GO:0006461)|protein localization to synapse (GO:0035418)|regulation of alpha-amino-3-hydroxy-5-methyl-4-isoxazole propionate selective glutamate receptor activity (GO:2000311)|righting reflex (GO:0060013)|social behavior (GO:0035176)|synapse maturation (GO:0060074)|vocalization behavior (GO:0071625)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|dendrite (GO:0030425)|dendritic spine (GO:0043197)|excitatory synapse (GO:0060076)|intracellular (GO:0005622)|membrane (GO:0016020)|N-methyl-D-aspartate selective glutamate receptor complex (GO:0017146)|neuron projection (GO:0043005)|neuronal postsynaptic density (GO:0097481)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	ankyrin repeat binding (GO:0071532)|GKAP/Homer scaffold activity (GO:0030160)|identical protein binding (GO:0042802)|ionotropic glutamate receptor binding (GO:0035255)|protein C-terminus binding (GO:0008022)|protein complex binding (GO:0032403)|scaffold protein binding (GO:0097110)|SH3 domain binding (GO:0017124)|somatostatin receptor binding (GO:0031877)			breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64		all_neural(266;0.057)		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)		AGAGGTTTAGCGCCAAACGGC	0.672																																						ENST00000293441.1																			0				breast(1)|cervix(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(4)|kidney(5)|large_intestine(15)|liver(1)|lung(21)|ovary(1)|prostate(2)|skin(3)|upper_aerodigestive_tract(3)	64						c.(6274-6276)Gct>Act		SH3 and multiple ankyrin repeat domains 1			THR/ALA	1,4405	2.1+/-5.4	0,1,2202	59.0	55.0	57.0		6274	2.6	0.8	19		57	0,8600		0,0,4300	no	missense	SHANK1	NM_016148.2	58	0,1,6502	TT,TC,CC		0.0,0.0227,0.0077	benign	2092/2162	51165434	1,13005	2203	4300	6503	SO:0001583	missense	50944				cytoskeletal anchoring at plasma membrane	cell junction|cytoplasm|dendrite|membrane fraction|postsynaptic density|postsynaptic membrane	ionotropic glutamate receptor binding	g.chr19:51165434C>T	AF163302	CCDS12799.1	19q13.3	2013-01-10			ENSG00000161681	ENSG00000161681		"""Sterile alpha motif (SAM) domain containing"", ""Ankyrin repeat domain containing"""	15474	protein-coding gene	gene with protein product	"""somatostatin receptor-interacting protein"""	604999				10551867	Standard	NM_016148		Approved	SSTRIP, SPANK-1, synamon	uc002psx.1	Q9Y566	OTTHUMG00000137380	ENST00000293441.1:c.6274G>A	19.37:g.51165434C>T	ENSP00000293441:p.Ala2092Thr					SHANK1_ENST00000391814.1_Missense_Mutation_p.A2100T|SHANK1_ENST00000391813.1_Missense_Mutation_p.A1479T|SHANK1_ENST00000359082.3_Missense_Mutation_p.A2083T|SYT3_ENST00000544769.1_Intron	p.A2092T	NM_016148.2	NP_057232.2	Q9Y566	SHAN1_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00493)|GBM - Glioblastoma multiforme(134;0.0199)	23	6292	-		all_neural(266;0.057)	2092					A8MXP5|B7WNY6|Q9NYW9	Missense_Mutation	SNP	ENST00000293441.1	37	c.6274G>A	CCDS12799.1	.	.	.	.	.	.	.	.	.	.	c	10.59	1.394242	0.25205	2.27E-4	0.0	ENSG00000161681	ENST00000293441;ENST00000391813;ENST00000359082;ENST00000391814	T;T;T;T	0.36878	1.36;1.79;1.33;1.23	3.66	2.62	0.31277	Sterile alpha motif/pointed domain (1);	0.277849	0.28577	U	0.014851	T	0.09686	0.0238	N	0.04508	-0.205	0.27827	N	0.941603	B;P	0.37158	0.168;0.585	B;B	0.26770	0.018;0.073	T	0.29671	-1.0004	10	0.02654	T	1	.	4.8022	0.13303	0.3286:0.5621:0.0:0.1093	.	2092;1479	Q9Y566;Q9Y566-2	SHAN1_HUMAN;.	T	2092;1479;2083;2100	ENSP00000293441:A2092T;ENSP00000375689:A1479T;ENSP00000351984:A2083T;ENSP00000375690:A2100T	ENSP00000293441:A2092T	A	-	1	0	SHANK1	55857246	0.000000	0.05858	0.792000	0.32020	0.985000	0.73830	-0.174000	0.09839	0.904000	0.36572	0.450000	0.29827	GCT		0.672	SHANK1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000268071.1	NM_016148		21	56	0	0	0	1	0	21	56				
RUNX1T1	862	broad.mit.edu	37	8	93074777	93074777	+	Intron	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr8:93074777G>A	ENST00000523629.1	-	2	543				RUNX1T1_ENST00000396218.1_Missense_Mutation_p.P2S|RUNX1T1_ENST00000360348.2_Intron|RUNX1T1_ENST00000265814.3_Intron|RUNX1T1_ENST00000436581.2_Intron|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.P2S|RUNX1T1_ENST00000520724.1_Intron|RUNX1T1_ENST00000522163.1_5'UTR	NM_001198626.1|NM_001198630.1|NM_001198633.1|NM_175634.2	NP_001185555.1|NP_001185559.1|NP_001185562.1|NP_783552.1	Q06455	MTG8_HUMAN	runt-related transcription factor 1; translocated to, 1 (cyclin D-related)						fat cell differentiation (GO:0045444)|generation of precursor metabolites and energy (GO:0006091)|regulation of DNA binding (GO:0051101)|transcription, DNA-templated (GO:0006351)	nuclear matrix (GO:0016363)	DNA binding (GO:0003677)|identical protein binding (GO:0042802)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)			NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86			BRCA - Breast invasive adenocarcinoma(11;0.0141)			AACTCACCAGGCATCCTTGAA	0.488																																						ENST00000396218.1																			0				NS(1)|breast(3)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(17)|lung(54)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)	86						c.(4-6)Cct>Tct		runt-related transcription factor 1; translocated to, 1 (cyclin D-related)							160.0	168.0	165.0					8																	93074777		2101	4260	6361	SO:0001627	intron_variant	862				generation of precursor metabolites and energy	nucleus	DNA binding|protein binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr8:93074777G>A	D43638	CCDS6256.1, CCDS6257.1, CCDS47891.1, CCDS56544.1, CCDS75766.1, CCDS75767.1	8q22	2007-01-29	2005-01-20	2005-01-22	ENSG00000079102	ENSG00000079102		"""Zinc fingers, MYND-type"""	1535	protein-coding gene	gene with protein product		133435	"""core-binding factor, runt domain, alpha subunit 2; translocated to, 1; cyclin D-related"""	AML1T1, CBFA2T1		1391946, 9790752	Standard	NM_004349		Approved	CDR, ETO, MTG8, ZMYND2	uc011lgi.2	Q06455	OTTHUMG00000164066	ENST00000523629.1:c.88+13415C>T	8.37:g.93074777G>A						RUNX1T1_ENST00000436581.2_Intron|RUNX1T1_ENST00000523629.1_Intron|RUNX1T1_ENST00000360348.2_Intron|RUNX1T1_ENST00000265814.3_Intron|RUNX1T1_ENST00000520724.1_Intron|RUNX1T1_ENST00000522163.1_5'UTR|RUNX1T1_ENST00000518844.1_Missense_Mutation_p.P2S	p.P2S	NM_004349.3	NP_004340.1	Q06455	MTG8_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0141)		1	414	-			0					B7Z4P4|E7EPN4|O14784|Q06456|Q14873|Q16239|Q16346|Q16347|Q6IBL1|Q6NXH1|Q7Z4J5|Q92479|Q9BRZ0	Missense_Mutation	SNP	ENST00000523629.1	37	c.4C>T	CCDS6256.1	.	.	.	.	.	.	.	.	.	.	G	16.80	3.221830	0.58560	.	.	ENSG00000079102	ENST00000396218;ENST00000518844;ENST00000521733;ENST00000518823;ENST00000518317;ENST00000519061	T;T	0.27557	1.66;1.66	5.92	5.92	0.95590	.	.	.	.	.	T	0.21347	0.0514	N	0.08118	0	0.80722	D	1	B	0.11235	0.004	B	0.01281	0.0	T	0.05321	-1.0892	9	0.44086	T	0.13	.	20.327	0.98704	0.0:0.0:1.0:0.0	.	2	Q06455-2	.	S	2	ENSP00000379520:P2S;ENSP00000430728:P2S	ENSP00000379520:P2S	P	-	1	0	RUNX1T1	93143953	1.000000	0.71417	1.000000	0.80357	0.998000	0.95712	7.112000	0.77086	2.794000	0.96219	0.650000	0.86243	CCT		0.488	RUNX1T1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000377045.3	NM_004349, NM_175635		64	159	0	0	0	1	0	64	159				
NUP210	23225	broad.mit.edu	37	3	13364886	13364886	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr3:13364886G>T	ENST00000254508.5	-	34	4773	c.4691C>A	c.(4690-4692)cCc>cAc	p.P1564H		NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN	nucleoporin 210kDa	1564					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)|protein transport (GO:0015031)|regulation of glucose transport (GO:0010827)|small molecule metabolic process (GO:0044281)|transmembrane transport (GO:0055085)|viral process (GO:0016032)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)|nuclear envelope (GO:0005635)|nuclear pore (GO:0005643)				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66	all_neural(104;0.187)					GGTCTGGATGGGGTGGAGGTG	0.592																																						ENST00000254508.5																			0				NS(1)|biliary_tract(1)|breast(1)|central_nervous_system(2)|cervix(1)|endometrium(9)|kidney(2)|large_intestine(10)|liver(1)|lung(16)|ovary(7)|pancreas(1)|prostate(1)|skin(8)|upper_aerodigestive_tract(3)|urinary_tract(2)	66						c.(4690-4692)cCc>cAc		nucleoporin 210kDa							122.0	119.0	120.0					3																	13364886		2203	4300	6503	SO:0001583	missense	23225				carbohydrate metabolic process|glucose transport|mRNA transport|protein transport|regulation of glucose transport|transmembrane transport|viral reproduction	endoplasmic reticulum membrane|nuclear membrane|nuclear pore		g.chr3:13364886G>T	AB020713	CCDS33704.1	3p25	2008-02-05			ENSG00000132182	ENSG00000132182			30052	protein-coding gene	gene with protein product		607703				2184032, 7504063	Standard	NM_024923		Approved	GP210, POM210, FLJ22389, KIAA0906	uc003bxv.1	Q8TEM1	OTTHUMG00000157268	ENST00000254508.5:c.4691C>A	3.37:g.13364886G>T	ENSP00000254508:p.Pro1564His						p.P1564H	NM_024923.2	NP_079199.2	Q8TEM1	PO210_HUMAN			34	4773	-	all_neural(104;0.187)		1564					A6NN56|O94980|Q6NXG6|Q8NBJ1|Q9H6C8|Q9UFP3	Missense_Mutation	SNP	ENST00000254508.5	37	c.4691C>A	CCDS33704.1	.	.	.	.	.	.	.	.	.	.	G	14.65	2.598049	0.46318	.	.	ENSG00000132182	ENST00000254508	T	0.05025	3.51	5.54	4.65	0.58169	.	0.823892	0.11021	N	0.608355	T	0.08582	0.0213	L	0.51422	1.61	0.09310	N	1	P	0.39903	0.694	B	0.37304	0.246	T	0.18272	-1.0342	10	0.48119	T	0.1	-7.7169	11.531	0.50610	0.0:0.2866:0.7134:0.0	.	1564	Q8TEM1	PO210_HUMAN	H	1564	ENSP00000254508:P1564H	ENSP00000254508:P1564H	P	-	2	0	NUP210	13339886	0.079000	0.21365	0.012000	0.15200	0.314000	0.28054	2.958000	0.49145	2.584000	0.87258	0.655000	0.94253	CCC		0.592	NUP210-001	KNOWN	non_canonical_conserved|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000340085.1	NM_024923		59	75	1	0	7.75977e-34	1	9.72347e-34	59	75				
THSD1	55901	broad.mit.edu	37	13	52971385	52971385	+	Silent	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr13:52971385G>A	ENST00000258613.4	-	3	1181	c.1003C>T	c.(1003-1005)Cta>Tta	p.L335L	THSD1_ENST00000349258.4_Silent_p.L335L|THSD1_ENST00000544466.1_Intron|RNY4P24_ENST00000362735.1_RNA	NM_018676.3	NP_061146.1	Q9NS62	THSD1_HUMAN	thrombospondin, type I, domain containing 1	335					hematopoietic progenitor cell differentiation (GO:0002244)	cell periphery (GO:0071944)|cell surface (GO:0009986)|cytoplasm (GO:0005737)|extracellular region (GO:0005576)|integral component of membrane (GO:0016021)				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)		GBM - Glioblastoma multiforme(99;2.8e-08)		CTCTGAATTAGCATGCACTCC	0.303																																						ENST00000349258.4																			0				breast(2)|cervix(1)|endometrium(4)|kidney(1)|large_intestine(5)|lung(11)|ovary(3)|skin(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	30						c.(1003-1005)Cta>Tta		thrombospondin, type I, domain containing 1							49.0	51.0	50.0					13																	52971385		2203	4300	6503	SO:0001819	synonymous_variant	55901					extracellular region|integral to membrane|intracellular membrane-bounded organelle		g.chr13:52971385G>A	AK096289	CCDS9432.1, CCDS9433.1	13q14.13	2010-04-20	2004-03-11		ENSG00000136114	ENSG00000136114			17754	protein-coding gene	gene with protein product			"""thrombospondin, type I, domain 1"""				Standard	NM_018676		Approved	TMTSP	uc001vgo.3	Q9NS62	OTTHUMG00000016963	ENST00000258613.4:c.1003C>T	13.37:g.52971385G>A						THSD1_ENST00000258613.4_Silent_p.L335L|THSD1_ENST00000544466.1_Intron	p.L335L	NM_199263.2	NP_954872.1	Q9NS62	THSD1_HUMAN		GBM - Glioblastoma multiforme(99;2.8e-08)	3	1547	-		Breast(56;0.000207)|Lung NSC(96;0.00145)|Hepatocellular(98;0.065)|Prostate(109;0.0771)|all_neural(104;0.173)	335					A2A3J3|B2RCF5|Q6P3U1|Q6UXZ2	Silent	SNP	ENST00000258613.4	37	c.1003C>T	CCDS9432.1																																																																																				0.303	THSD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000045058.3			11	48	0	0	0	1	0	11	48				
MYOC	4653	broad.mit.edu	37	1	171621570	171621570	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:171621570C>A	ENST00000037502.6	-	1	253	c.182G>T	c.(181-183)tGc>tTc	p.C61F		NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN	myocilin, trabecular meshwork inducible glucocorticoid response	61					bone development (GO:0060348)|clustering of voltage-gated sodium channels (GO:0045162)|ERBB2-ERBB3 signaling pathway (GO:0038133)|myelination in peripheral nervous system (GO:0022011)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of stress fiber assembly (GO:0051497)|neuron projection development (GO:0031175)|non-canonical Wnt signaling pathway via JNK cascade (GO:0038031)|osteoblast differentiation (GO:0001649)|positive regulation of cell migration (GO:0030335)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of mitochondrial depolarization (GO:0051901)|positive regulation of phosphatidylinositol 3-kinase signaling (GO:0014068)|positive regulation of protein kinase B signaling (GO:0051897)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|regulation of MAPK cascade (GO:0043408)|skeletal muscle hypertrophy (GO:0014734)	cilium (GO:0005929)|cytoplasmic vesicle (GO:0031410)|endoplasmic reticulum (GO:0005783)|extracellular matrix (GO:0031012)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|mitochondrial inner membrane (GO:0005743)|mitochondrial intermembrane space (GO:0005758)|mitochondrial outer membrane (GO:0005741)|node of Ranvier (GO:0033268)|proteinaceous extracellular matrix (GO:0005578)	fibronectin binding (GO:0001968)|frizzled binding (GO:0005109)|myosin light chain binding (GO:0032027)			breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)					CTGCTCTGGGCAGCTGGATTC	0.577																																						ENST00000037502.5																			0				breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(3)|kidney(1)|large_intestine(4)|lung(12)|ovary(2)|prostate(1)|urinary_tract(2)	28						c.(181-183)tGc>tTc		myocilin, trabecular meshwork inducible glucocorticoid response							117.0	90.0	99.0					1																	171621570		2203	4300	6503	SO:0001583	missense	4653				anatomical structure morphogenesis	cilium|extracellular space|rough endoplasmic reticulum	structural molecule activity	g.chr1:171621570C>A	BC029261	CCDS1297.1	1q23-q24	2008-02-05			ENSG00000034971	ENSG00000034971			7610	protein-coding gene	gene with protein product		601652		GLC1A		9169133, 9005853	Standard	NM_000261		Approved	TIGR, JOAG1	uc001ghu.3	Q99972	OTTHUMG00000034789	ENST00000037502.6:c.182G>T	1.37:g.171621570C>A	ENSP00000037502:p.Cys61Phe						p.C61F	NM_000261.1	NP_000252.1	Q99972	MYOC_HUMAN			1	241	-	all_cancers(6;5.47e-10)|all_hematologic(923;0.088)|Acute lymphoblastic leukemia(37;0.181)		61					B2RD84|O00620|Q7Z6Q9	Missense_Mutation	SNP	ENST00000037502.6	37	c.182G>T	CCDS1297.1	.	.	.	.	.	.	.	.	.	.	C	19.71	3.879005	0.72294	.	.	ENSG00000034971	ENST00000037502;ENST00000357746;ENST00000537133	T	0.57907	0.37	5.31	5.31	0.75309	.	0.000000	0.85682	D	0.000000	T	0.65974	0.2743	M	0.71581	2.175	0.58432	D	0.999999	D;D	0.89917	1.0;1.0	D;D	0.91635	0.998;0.999	T	0.69359	-0.5166	10	0.87932	D	0	.	14.8231	0.70087	0.0:1.0:0.0:0.0	.	61;61	B4DV44;Q99972	.;MYOC_HUMAN	F	61	ENSP00000037502:C61F	ENSP00000037502:C61F	C	-	2	0	MYOC	169888193	1.000000	0.71417	1.000000	0.80357	0.914000	0.54420	5.324000	0.65863	2.633000	0.89246	0.655000	0.94253	TGC		0.577	MYOC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000084178.2	NM_000261		25	48	1	0	7.87624e-14	1	8.98887e-14	25	48				
DYNC2H1	79659	broad.mit.edu	37	11	103040868	103040868	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:103040868T>C	ENST00000375735.2	+	33	5144	c.5000T>C	c.(4999-5001)cTg>cCg	p.L1667P	DYNC2H1_ENST00000398093.3_Missense_Mutation_p.L1667P|DYNC2H1_ENST00000334267.7_Intron	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN	dynein, cytoplasmic 2, heavy chain 1	1667	AAA 1. {ECO:0000250}.				antigen processing and presentation of exogenous peptide antigen via MHC class II (GO:0019886)|asymmetric protein localization (GO:0008105)|cilium assembly (GO:0042384)|determination of left/right symmetry (GO:0007368)|dorsal/ventral pattern formation (GO:0009953)|embryonic limb morphogenesis (GO:0030326)|forebrain development (GO:0030900)|Golgi organization (GO:0007030)|intraciliary retrograde transport (GO:0035721)|positive regulation of smoothened signaling pathway (GO:0045880)|protein processing (GO:0016485)|spinal cord motor neuron differentiation (GO:0021522)	apical part of cell (GO:0045177)|axoneme (GO:0005930)|cytosol (GO:0005829)|dynein complex (GO:0030286)|extracellular vesicular exosome (GO:0070062)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|motile primary cilium (GO:0031512)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|microtubule motor activity (GO:0003777)|motor activity (GO:0003774)			NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)		TATACTCCACTGACAGACAAG	0.388																																						ENST00000375735.2																			0				NS(1)|endometrium(4)|kidney(5)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|upper_aerodigestive_tract(2)	33						c.(4999-5001)cTg>cCg		dynein, cytoplasmic 2, heavy chain 1							101.0	95.0	97.0					11																	103040868		1874	4106	5980	SO:0001583	missense	79659				cell projection organization|Golgi organization|microtubule-based movement|multicellular organismal development	cilium axoneme|dynein complex|Golgi apparatus|microtubule|plasma membrane	ATP binding|ATPase activity|microtubule motor activity	g.chr11:103040868T>C	AB082528	CCDS44717.1, CCDS53701.1	11q21-q22.1	2011-06-02	2005-11-24	2005-11-24	ENSG00000187240	ENSG00000187240		"""Cytoplasmic dyneins"""	2962	protein-coding gene	gene with protein product		603297	"""dynein, cytoplasmic, heavy polypeptide 2"""	DNCH2		9763680, 9373155	Standard	NM_001080463		Approved	hdhc11, DHC2, DHC1b, DYH1B	uc001phn.1	Q8NCM8	OTTHUMG00000165941	ENST00000375735.2:c.5000T>C	11.37:g.103040868T>C	ENSP00000364887:p.Leu1667Pro					DYNC2H1_ENST00000398093.3_Missense_Mutation_p.L1667P|DYNC2H1_ENST00000334267.7_Intron	p.L1667P	NM_001080463.1|NM_001377.2	NP_001073932.1|NP_001368.2	Q8NCM8	DYHC2_HUMAN		BRCA - Breast invasive adenocarcinoma(274;0.000177)|Epithelial(105;0.0785)	33	5144	+		Acute lymphoblastic leukemia(157;0.000966)|all_hematologic(158;0.00348)	1667			AAA 1 (By similarity).		O00432|Q16693|Q3C1U8|Q4AC93|Q6ZMX7|Q6ZUM6|Q7Z363|Q8N977|Q92815|Q9HAE4	Missense_Mutation	SNP	ENST00000375735.2	37	c.5000T>C	CCDS53701.1	.	.	.	.	.	.	.	.	.	.	T	18.57	3.652728	0.67472	.	.	ENSG00000187240	ENST00000375735;ENST00000398093	T;T	0.43688	0.94;0.94	5.54	5.54	0.83059	.	1.203180	0.06702	U	0.771568	T	0.80232	0.4585	H	0.97240	3.965	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.76130	-0.3072	10	0.87932	D	0	.	15.6723	0.77289	0.0:0.0:0.0:1.0	.	1667;1667	Q8NCM8;Q8NCM8-2	DYHC2_HUMAN;.	P	1667	ENSP00000364887:L1667P;ENSP00000381167:L1667P	ENSP00000364887:L1667P	L	+	2	0	DYNC2H1	102546078	1.000000	0.71417	0.842000	0.33263	0.492000	0.33523	8.036000	0.88901	2.103000	0.63969	0.477000	0.44152	CTG		0.388	DYNC2H1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387196.1	XM_370652		3	30	0	0	0	1	0	3	30				
PCDHGA5	56110	broad.mit.edu	37	5	140744051	140744051	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr5:140744051C>A	ENST00000518069.1	+	1	154	c.154C>A	c.(154-156)Ctt>Att	p.L52I	PCDHGB2_ENST00000522605.1_Intron|PCDHGA2_ENST00000394576.2_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1	Q9Y5G8	PCDG5_HUMAN	protocadherin gamma subfamily A, 5	52	Cadherin 1. {ECO:0000255|PROSITE- ProRule:PRU00043}.				homophilic cell adhesion (GO:0007156)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			AGCCAAGGACCTTGGGCTGGA	0.652																																						ENST00000518069.1																			0				endometrium(1)|kidney(1)|large_intestine(5)|lung(3)|ovary(5)|upper_aerodigestive_tract(3)	18						c.(154-156)Ctt>Att									41.0	51.0	48.0					5																	140744051		2200	4299	6499	SO:0001583	missense	56110							g.chr5:140744051C>A	AF152512	CCDS54925.1, CCDS75333.1	5q31	2010-01-26				ENSG00000253485		"""Cadherins / Protocadherins : Clustered"""	8703	other	protocadherin	"""cadherin ME3"""	606292				10380929	Standard	NM_018918		Approved	CDH-GAMMA-A5, ME3, PCDH-GAMMA-A5		Q9Y5G8		ENST00000518069.1:c.154C>A	5.37:g.140744051C>A	ENSP00000429834:p.Leu52Ile					PCDHGA2_ENST00000394576.2_Intron|PCDHGA3_ENST00000253812.6_Intron|PCDHGA1_ENST00000517417.1_Intron|PCDHGB2_ENST00000522605.1_Intron|PCDHGB1_ENST00000523390.1_Intron|PCDHGA4_ENST00000571252.1_Intron	p.L52I	NM_018918.2|NM_032054.1	NP_061741.1|NP_114443.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	154	+								Q2M3F5|Q9Y5D2	Missense_Mutation	SNP	ENST00000518069.1	37	c.154C>A	CCDS54925.1	.	.	.	.	.	.	.	.	.	.	.	18.68	3.676728	0.67928	.	.	ENSG00000253485	ENST00000518069	T	0.58506	0.33	5.38	5.38	0.77491	Cadherin, N-terminal (1);Cadherin (2);Cadherin-like (1);	.	.	.	.	D	0.86401	0.5924	H	0.98333	4.205	0.27876	N	0.939877	D;D	0.76494	0.999;0.999	D;D	0.77004	0.989;0.984	D	0.83762	0.0215	9	0.87932	D	0	.	19.1672	0.93562	0.0:1.0:0.0:0.0	.	52;52	Q9Y5G8-2;Q9Y5G8	.;PCDG5_HUMAN	I	52	ENSP00000429834:L52I	ENSP00000429834:L52I	L	+	1	0	PCDHGA5	140724235	0.015000	0.18098	1.000000	0.80357	0.880000	0.50808	0.206000	0.17375	2.694000	0.91930	0.558000	0.71614	CTT		0.652	PCDHGA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000374742.1	NM_018918		36	72	1	0	5.04308e-16	1	5.90926e-16	36	72				
DAAM2	23500	broad.mit.edu	37	6	39832810	39832810	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr6:39832810G>A	ENST00000398904.2	+	5	570	c.388G>A	c.(388-390)Gtg>Atg	p.V130M	DAAM2_ENST00000494405.1_3'UTR|DAAM2_ENST00000274867.4_Missense_Mutation_p.V130M|DAAM2_ENST00000538976.1_Missense_Mutation_p.V130M			Q86T65	DAAM2_HUMAN	dishevelled associated activator of morphogenesis 2	130	GBD/FH3. {ECO:0000255|PROSITE- ProRule:PRU00579}.				actin cytoskeleton organization (GO:0030036)|determination of left/right symmetry (GO:0007368)					NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49	Ovarian(28;0.0355)|Colorectal(47;0.196)					GAACCAAGTCGTGGAAGACCT	0.557											OREG0017416	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000538976.1																			0				NS(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(9)|lung(18)|ovary(2)|prostate(4)|skin(2)|upper_aerodigestive_tract(5)	49						c.(388-390)Gtg>Atg		dishevelled associated activator of morphogenesis 2							97.0	116.0	110.0					6																	39832810		2092	4222	6314	SO:0001583	missense	23500				actin cytoskeleton organization		actin binding|Rho GTPase binding	g.chr6:39832810G>A	AB002379	CCDS54999.1, CCDS56426.1	6p21.1	2008-07-30			ENSG00000146122	ENSG00000146122			18143	protein-coding gene	gene with protein product		606627				11779461, 12632087	Standard	NM_015345		Approved	KIAA0381	uc003oow.3	Q86T65	OTTHUMG00000014653	ENST00000398904.2:c.388G>A	6.37:g.39832810G>A	ENSP00000381876:p.Val130Met		OREG0017416	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	888	DAAM2_ENST00000494405.1_3'UTR|DAAM2_ENST00000274867.4_Missense_Mutation_p.V130M|DAAM2_ENST00000398904.2_Missense_Mutation_p.V130M	p.V130M	NM_015345.3	NP_056160.2	Q86T65	DAAM2_HUMAN			5	570	+	Ovarian(28;0.0355)|Colorectal(47;0.196)		130			GBD/FH3.		G5EA45|Q5T4T8|Q5T4U0|Q9NQI5|Q9Y4G0	Missense_Mutation	SNP	ENST00000398904.2	37	c.388G>A	CCDS56426.1	.	.	.	.	.	.	.	.	.	.	g	25.7	4.667151	0.88251	.	.	ENSG00000146122	ENST00000274867;ENST00000398904;ENST00000538976	D;D;D	0.89746	-2.56;-2.56;-2.56	5.71	5.71	0.89125	GTPase-binding/formin homology 3 (1);Armadillo-type fold (1);Diaphanous GTPase-binding (1);	0.000000	0.85682	D	0.000000	D	0.91314	0.7261	M	0.66939	2.045	0.80722	D	1	D;D	0.71674	0.998;0.998	P;D	0.63113	0.855;0.911	D	0.91945	0.5566	10	0.72032	D	0.01	.	12.7777	0.57457	0.0753:0.0:0.9247:0.0	.	130;130	G5EA45;Q86T65	.;DAAM2_HUMAN	M	130	ENSP00000274867:V130M;ENSP00000381876:V130M;ENSP00000437808:V130M	ENSP00000274867:V130M	V	+	1	0	DAAM2	39940788	1.000000	0.71417	0.959000	0.39883	0.938000	0.57974	4.793000	0.62474	2.708000	0.92522	0.651000	0.88453	GTG		0.557	DAAM2-003	KNOWN	alternative_5_UTR|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000280648.1			7	12	0	0	0	1	0	7	12				
DNM1P46	196968	broad.mit.edu	37	15	100340390	100340390	+	RNA	SNP	C	C	G			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr15:100340390C>G	ENST00000341853.1	-	0	536					NR_003260.1		Q6ZS02	DMP46_HUMAN	DNM1 pseudogene 46							microtubule (GO:0005874)	GTPase activity (GO:0003924)										GCCGACTCCTCCATGAGTGTC	0.582																																						ENST00000341853.1																			0																				18.0	18.0	18.0					15																	100340390		1271	3114	4385			196968							g.chr15:100340390C>G	AJ576275		15q26.3	2013-04-25			ENSG00000182397	ENSG00000182397			35199	pseudogene	pseudogene			"""chromosome 15 open reading frame 51"""	DNM1DN14@, C15orf51			Standard	NR_003260		Approved	DNM1DN14.2, FLJ45937, DKFZp434I1020	uc021sxl.1	Q6ZS02	OTTHUMG00000149852		15.37:g.100340390C>G								NR_003260.1						0	536	-								Q3ZCN3	RNA	SNP	ENST00000341853.1	37																																																																																						0.582	DNM1P46-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000313543.1	NR_003260		7	20	0	0	0	1	0	7	20				
MAML1	9794	broad.mit.edu	37	5	179192463	179192463	+	Missense_Mutation	SNP	C	C	T	rs200741540		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr5:179192463C>T	ENST00000292599.3	+	2	715	c.452C>T	c.(451-453)tCt>tTt	p.S151F	MAML1_ENST00000503050.1_3'UTR	NM_014757.4	NP_055572.1			mastermind-like 1 (Drosophila)											central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)			GTTGCCATCTCTTCCAATGGA	0.612													C|||	1	0.000199681	0.0	0.0	5008	,	,		16054	0.001		0.0	False		,,,				2504	0.0					ENST00000292599.3																			0				central_nervous_system(1)|cervix(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(4)|lung(16)|ovary(2)|prostate(3)|skin(1)|upper_aerodigestive_tract(1)	36						c.(451-453)tCt>tTt		mastermind-like 1 (Drosophila)							45.0	50.0	49.0					5																	179192463		2203	4300	6503	SO:0001583	missense	9794				Notch signaling pathway|positive regulation of transcription from RNA polymerase II promoter|transcription, DNA-dependent	nuclear speck	peptide antigen binding|protein kinase binding|transcription coactivator activity	g.chr5:179192463C>T	D83785	CCDS34315.1	5q35	2008-07-18	2001-11-28			ENSG00000161021			13632	protein-coding gene	gene with protein product	"""mastermind homolog"""	605424	"""mastermind (drosophila)-like 1"""			11101851, 11390662	Standard	NM_014757		Approved	KIAA0200, Mam-1	uc003mkm.3	Q92585		ENST00000292599.3:c.452C>T	5.37:g.179192463C>T	ENSP00000292599:p.Ser151Phe					MAML1_ENST00000503050.1_3'UTR	p.S151F	NM_014757.4	NP_055572.1	Q92585	MAML1_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)		2	715	+	all_cancers(89;0.000197)|all_epithelial(37;6.7e-05)|Renal(175;0.000159)|Lung NSC(126;0.00121)|all_lung(126;0.00218)	all_cancers(40;0.0308)|Medulloblastoma(196;0.00498)|all_neural(177;0.0138)	151						Missense_Mutation	SNP	ENST00000292599.3	37	c.452C>T	CCDS34315.1	1	4.578754578754579E-4	0	0.0	0	0.0	1	0.0017482517482517483	0	0.0	C	11.42	1.634206	0.29068	.	.	ENSG00000161021	ENST00000292599;ENST00000376951	T	0.53857	0.6	5.11	5.11	0.69529	.	0.255560	0.34133	N	0.004237	T	0.67804	0.2932	M	0.63428	1.95	0.45607	D	0.998547	D;P	0.62365	0.991;0.736	P;B	0.59825	0.864;0.333	T	0.70040	-0.4981	10	0.54805	T	0.06	-2.5184	18.5375	0.91015	0.0:1.0:0.0:0.0	.	188;151	Q59GH4;Q92585	.;MAML1_HUMAN	F	151;188	ENSP00000292599:S151F	ENSP00000292599:S151F	S	+	2	0	MAML1	179125069	0.818000	0.29161	0.869000	0.34112	0.314000	0.28054	3.372000	0.52387	2.367000	0.80283	0.462000	0.41574	TCT		0.612	MAML1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372316.2	NM_014757		20	52	0	0	0	1	0	20	52				
VPS13D	55187	broad.mit.edu	37	1	12343295	12343295	+	Silent	SNP	A	A	G			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:12343295A>G	ENST00000358136.3	+	21	5266	c.5136A>G	c.(5134-5136)tcA>tcG	p.S1712S	VPS13D_ENST00000356315.4_Silent_p.S1712S	NM_015378.2	NP_056193.2			vacuolar protein sorting 13 homolog D (S. cerevisiae)											NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)		CTTGCCCCTCAGTGTCCAATG	0.463																																						ENST00000358136.3																			0				NS(1)|breast(6)|endometrium(11)|haematopoietic_and_lymphoid_tissue(2)|kidney(13)|large_intestine(28)|lung(44)|ovary(5)|pancreas(1)|prostate(8)|skin(4)|upper_aerodigestive_tract(3)|urinary_tract(4)	130						c.(5134-5136)tcA>tcG		vacuolar protein sorting 13 homolog D (S. cerevisiae)							129.0	124.0	126.0					1																	12343295		2203	4300	6503	SO:0001819	synonymous_variant	55187				protein localization			g.chr1:12343295A>G	AJ608774	CCDS30588.1, CCDS30589.1	1p36.21	2008-02-05	2006-04-04		ENSG00000048707	ENSG00000048707			23595	protein-coding gene	gene with protein product		608877	"""vacuolar protein sorting 13D (yeast)"""				Standard	NM_015378		Approved	FLJ10619, KIAA0453	uc001atv.3	Q5THJ4	OTTHUMG00000013155	ENST00000358136.3:c.5136A>G	1.37:g.12343295A>G						VPS13D_ENST00000356315.4_Silent_p.S1712S	p.S1712S	NM_015378.2	NP_056193.2	Q5THJ4	VP13D_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0327)|Colorectal(212;4.63e-06)|BRCA - Breast invasive adenocarcinoma(304;0.000289)|COAD - Colon adenocarcinoma(227;0.000801)|Kidney(185;0.00216)|KIRC - Kidney renal clear cell carcinoma(229;0.00544)|STAD - Stomach adenocarcinoma(313;0.012)|READ - Rectum adenocarcinoma(331;0.0476)|Lung(427;0.209)	21	5266	+	Ovarian(185;0.249)	Lung NSC(185;4.08e-05)|all_lung(284;4.55e-05)|Renal(390;0.000147)|Colorectal(325;0.00058)|Breast(348;0.00093)|Ovarian(437;0.00965)|Hepatocellular(190;0.0202)|Myeloproliferative disorder(586;0.0255)	1712						Silent	SNP	ENST00000358136.3	37	c.5136A>G	CCDS30588.1	.	.	.	.	.	.	.	.	.	.	A	8.709	0.911587	0.17833	.	.	ENSG00000048707	ENST00000011700	.	.	.	5.89	-6.29	0.02013	.	.	.	.	.	T	0.37679	0.1012	.	.	.	0.58432	D	0.999996	.	.	.	.	.	.	T	0.41592	-0.9500	4	.	.	.	.	2.955	0.05874	0.3194:0.091:0.3981:0.1915	.	.	.	.	R	535	.	.	Q	+	2	0	VPS13D	12265882	0.000000	0.05858	0.576000	0.28549	0.983000	0.72400	-2.063000	0.01388	-0.902000	0.03886	0.459000	0.35465	CAG		0.463	VPS13D-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000036897.2	NM_015378		27	71	0	0	0	1	0	27	71				
CHMP5	51510	broad.mit.edu	37	9	33264312	33264312	+	5'Flank	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr9:33264312C>A	ENST00000223500.8	+	0	0				BAG1_ENST00000379704.2_Nonsense_Mutation_p.E6*|BAG1_ENST00000472232.3_Nonsense_Mutation_p.E121*|CHMP5_ENST00000419016.2_5'Flank	NM_016410.5	NP_057494.3	Q9NZZ3	CHMP5_HUMAN	charged multivesicular body protein 5						endosomal transport (GO:0016197)|endosome to lysosome transport (GO:0008333)|lysosome organization (GO:0007040)|membrane organization (GO:0061024)|protein transport (GO:0015031)|regulation of receptor recycling (GO:0001919)|viral life cycle (GO:0019058)|viral process (GO:0016032)	cytosol (GO:0005829)|endosome (GO:0005768)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(3)|lung(4)|ovary(1)	10			LUSC - Lung squamous cell carcinoma(29;0.00506)			CGGGTCACCTCCTGGCTCCGA	0.647																																						ENST00000472232.3																			0				endometrium(1)|large_intestine(3)|lung(3)|ovary(1)	8						c.(361-363)Gag>Tag		BCL2-associated athanogene							68.0	56.0	60.0					9																	33264312		2203	4300	6503	SO:0001631	upstream_gene_variant	573				anti-apoptosis|apoptosis|cell surface receptor linked signaling pathway|chaperone cofactor-dependent protein refolding	cytoplasm|intermediate filament cytoskeleton|nucleus	protein binding|receptor signaling protein activity	g.chr9:33264312C>A	AF132968	CCDS6537.1, CCDS56569.1	9p13.3	2011-09-21	2011-09-21	2005-08-09	ENSG00000086065	ENSG00000086065		"""Charged multivesicular body proteins"""	26942	protein-coding gene	gene with protein product		610900	"""chromosome 9 open reading frame 83"", ""chromatin modifying protein 5"""	C9orf83, SNF7DC2		15644320, 11559748	Standard	NM_016410		Approved	HSPC177, CGI-34, Vps60	uc003zsm.4	Q9NZZ3	OTTHUMG00000019765		9.37:g.33264312C>A	Exception_encountered					BAG1_ENST00000379704.2_Nonsense_Mutation_p.E6*	p.E121*	NM_001172415.1|NM_004323.5	NP_001165886.1|NP_004314.5	Q99933	BAG1_HUMAN	LUSC - Lung squamous cell carcinoma(29;0.00506)		1	447	-			121			7 X 6 AA tandem repeat of E-E-X(4).		B2RD95|B4DIR6|Q5VXW2|Q96AV2|Q9HB68|Q9NYS4|Q9Y323	Nonsense_Mutation	SNP	ENST00000223500.8	37	c.361G>T	CCDS6537.1	.	.	.	.	.	.	.	.	.	.	C	38	6.656843	0.97739	.	.	ENSG00000107262	ENST00000472232;ENST00000379700;ENST00000379704;ENST00000473781;ENST00000488499	.	.	.	3.57	3.57	0.40892	.	0.236709	0.21698	N	0.070470	.	.	.	.	.	.	0.80722	A	1	.	.	.	.	.	.	.	.	.	.	0.66056	D	0.02	-0.9005	13.4513	0.61172	0.0:1.0:0.0:0.0	.	.	.	.	X	121;6;6;6;6	.	ENSP00000369022:E6X	E	-	1	0	BAG1	33254312	0.652000	0.27349	0.881000	0.34555	0.154000	0.21943	2.237000	0.43061	2.294000	0.77228	0.561000	0.74099	GAG		0.647	CHMP5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000052040.3	NM_016410		16	45	1	0	7.81268e-19	1	9.40585e-19	16	45				
LSAMP	4045	broad.mit.edu	37	3	115805312	115805312	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr3:115805312G>A	ENST00000490035.2	-	2	746	c.247C>T	c.(247-249)Cgg>Tgg	p.R83W	LSAMP_ENST00000539563.1_Missense_Mutation_p.R80W	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN	limbic system-associated membrane protein	83	Ig-like C2-type 1.				cell adhesion (GO:0007155)|locomotory exploration behavior (GO:0035641)|nervous system development (GO:0007399)	anchored component of membrane (GO:0031225)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)		AGCTCAACCCGTGGGTCCAGA	0.502																																						ENST00000490035.1																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(2)|kidney(1)|large_intestine(4)|lung(14)|prostate(1)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	31						c.(247-249)Cgg>Tgg		limbic system-associated membrane protein							120.0	108.0	112.0					3																	115805312		2203	4300	6503	SO:0001583	missense	4045				cell adhesion|nervous system development	anchored to membrane|plasma membrane		g.chr3:115805312G>A	U41901	CCDS2982.1	3q13.2-q21	2013-01-11			ENSG00000185565	ENSG00000185565		"""Immunoglobulin superfamily / I-set domain containing"""	6705	protein-coding gene	gene with protein product	"""IgLON family member 3"""	603241				9615236	Standard	NM_002338		Approved	LAMP, IGLON3	uc003ebs.3	Q13449	OTTHUMG00000159308	ENST00000490035.2:c.247C>T	3.37:g.115805312G>A	ENSP00000419000:p.Arg83Trp					LSAMP_ENST00000539563.1_Missense_Mutation_p.R80W	p.R83W	NM_002338.3	NP_002329.2	Q13449	LSAMP_HUMAN		GBM - Glioblastoma multiforme(114;0.00117)|LUSC - Lung squamous cell carcinoma(41;0.0407)|Lung(219;0.152)	2	746	-		all_cancers(1;0.00189)|all_epithelial(1;0.0366)|Myeloproliferative disorder(1037;0.17)|all_neural(597;0.208)|Lung NSC(201;0.215)	83			Ig-like C2-type 1.		Q8IV49	Missense_Mutation	SNP	ENST00000490035.2	37	c.247C>T	CCDS2982.1	.	.	.	.	.	.	.	.	.	.	G	23.0	4.364882	0.82463	.	.	ENSG00000185565	ENST00000333617;ENST00000490035;ENST00000539563;ENST00000474851	T;T;T;T	0.40756	1.02;1.02;1.02;1.02	5.65	5.65	0.86999	Immunoglobulin subtype (1);Immunoglobulin I-set (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.066282	0.64402	D	0.000010	T	0.80042	0.4551	H	0.98542	4.26	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	0.998;1.0	D	0.87673	0.2542	10	0.87932	D	0	-11.051	19.7254	0.96162	0.0:0.0:1.0:0.0	.	83;83	B2RCU8;Q13449	.;LSAMP_HUMAN	W	67;83;80;117	ENSP00000328455:R67W;ENSP00000419000:R83W;ENSP00000443429:R80W;ENSP00000418506:R117W	ENSP00000328455:R67W	R	-	1	2	LSAMP	117288002	1.000000	0.71417	1.000000	0.80357	0.987000	0.75469	4.201000	0.58439	2.668000	0.90789	0.555000	0.69702	CGG		0.502	LSAMP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354495.4	NM_002338		24	62	0	0	0	1	0	24	62				
GABRD	2563	broad.mit.edu	37	1	1957085	1957085	+	Silent	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:1957085C>T	ENST00000378585.4	+	4	461	c.378C>T	c.(376-378)atC>atT	p.I126I		NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN	gamma-aminobutyric acid (GABA) A receptor, delta	126					signal transduction (GO:0007165)|synaptic transmission (GO:0007268)|transport (GO:0006810)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|integral component of plasma membrane (GO:0005887)|postsynaptic membrane (GO:0045211)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	ACACCTTCATCGTGAACGCCA	0.632																																						ENST00000378585.4																			0				central_nervous_system(2)|endometrium(3)|kidney(2)|lung(8)|ovary(2)|prostate(1)|skin(2)	20						c.(376-378)atC>atT		gamma-aminobutyric acid (GABA) A receptor, delta							105.0	101.0	102.0					1																	1957085		2203	4300	6503	SO:0001819	synonymous_variant	2563					cell junction|chloride channel complex|integral to plasma membrane|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity|GABA-A receptor activity	g.chr1:1957085C>T	BC033801	CCDS36.1	1p36.3	2012-06-22			ENSG00000187730	ENSG00000187730		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4084	protein-coding gene	gene with protein product	"""GABA(A) receptor, delta"""	137163				2176788, 10965146	Standard	NM_000815		Approved		uc001aip.2	O14764	OTTHUMG00000041064	ENST00000378585.4:c.378C>T	1.37:g.1957085C>T							p.I126I	NM_000815.4	NP_000806.2	O14764	GBRD_HUMAN		Epithelial(90;2.19e-38)|OV - Ovarian serous cystadenocarcinoma(86;3.17e-24)|GBM - Glioblastoma multiforme(42;9.56e-08)|Colorectal(212;4.12e-05)|COAD - Colon adenocarcinoma(227;0.000194)|Kidney(185;0.00231)|BRCA - Breast invasive adenocarcinoma(365;0.00441)|STAD - Stomach adenocarcinoma(132;0.00644)|KIRC - Kidney renal clear cell carcinoma(229;0.0344)|Lung(427;0.2)	4	461	+	all_cancers(77;0.000708)|all_epithelial(69;0.000943)|all_lung(157;0.00963)|Lung NSC(156;0.0232)|Ovarian(185;0.0634)	all_epithelial(116;2.7e-19)|all_lung(118;1.22e-08)|Lung NSC(185;1.24e-06)|Renal(390;0.00183)|Breast(487;0.00354)|Hepatocellular(190;0.00826)|Myeloproliferative disorder(586;0.0122)|Ovarian(437;0.0308)|Medulloblastoma(700;0.123)|Lung SC(97;0.128)	126					Q8N4N9	Silent	SNP	ENST00000378585.4	37	c.378C>T	CCDS36.1																																																																																				0.632	GABRD-001	KNOWN	mRNA_start_NF|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000098493.1	NM_000815		35	93	0	0	0	1	0	35	93				
SAAL1	113174	broad.mit.edu	37	11	18105248	18105248	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:18105248C>A	ENST00000524803.1	-	10	1122	c.1073G>T	c.(1072-1074)cGg>cTg	p.R358L	SAAL1_ENST00000529318.1_Missense_Mutation_p.R360L|SAAL1_ENST00000300013.4_Missense_Mutation_p.R357L			Q96ER3	SAAL1_HUMAN	serum amyloid A-like 1	358										breast(2)|large_intestine(5)|lung(8)	15						TTGTAAGACCCGAATGAGGCT	0.363																																						ENST00000524803.1																			0				breast(2)|large_intestine(5)|lung(8)	15						c.(1072-1074)cGg>cTg		serum amyloid A-like 1							105.0	100.0	101.0					11																	18105248		2200	4293	6493	SO:0001583	missense	113174				acute-phase response	extracellular region	binding	g.chr11:18105248C>A	AK123457	CCDS31439.1	11p15.1	2005-10-28			ENSG00000166788	ENSG00000166788			25158	protein-coding gene	gene with protein product							Standard	NM_138421		Approved	FLJ41463	uc001mnq.3	Q96ER3	OTTHUMG00000166428	ENST00000524803.1:c.1073G>T	11.37:g.18105248C>A	ENSP00000432487:p.Arg358Leu					SAAL1_ENST00000529318.1_Missense_Mutation_p.R360L|SAAL1_ENST00000300013.4_Missense_Mutation_p.R357L	p.R358L			Q96ER3	SAAL1_HUMAN			10	1122	-			358					A6NH05	Missense_Mutation	SNP	ENST00000524803.1	37	c.1073G>T	CCDS31439.1	.	.	.	.	.	.	.	.	.	.	C	24.5	4.533894	0.85812	.	.	ENSG00000166788	ENST00000524803;ENST00000300013;ENST00000529318	T;T;T	0.36520	1.3;1.25;1.26	5.99	4.12	0.48240	Armadillo-like helical (1);	0.342501	0.35436	N	0.003218	T	0.46541	0.1398	L	0.50333	1.59	0.38831	D	0.955851	D;D;D	0.57571	0.98;0.98;0.98	P;P;P	0.57960	0.83;0.83;0.83	T	0.51172	-0.8739	10	0.62326	D	0.03	-14.1325	10.8684	0.46869	0.0:0.8557:0.0:0.1443	.	360;358;358	E9PRZ1;G1UCX3;Q96ER3	.;.;SAAL1_HUMAN	L	358;357;360	ENSP00000432487:R358L;ENSP00000300013:R357L;ENSP00000432216:R360L	ENSP00000300013:R357L	R	-	2	0	SAAL1	18061824	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	2.587000	0.46128	1.540000	0.49301	0.655000	0.94253	CGG		0.363	SAAL1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000389728.1	NM_138421		14	23	1	0	0.0242445	1	0.0245646	14	23				
CCM2L	140706	broad.mit.edu	37	20	30602845	30602845	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr20:30602845C>A	ENST00000300415.8	+	2	182	c.169C>A	c.(169-171)Ctg>Atg	p.L57M	CCM2L_ENST00000262659.8_Missense_Mutation_p.L57M			Q9NUG4	CCM2L_HUMAN	cerebral cavernous malformation 2-like	57																	CCAGATTCTGCTGTGTGACTA	0.617																																						ENST00000300415.8																			0											c.(169-171)Ctg>Atg		cerebral cavernous malformation 2-like							78.0	71.0	73.0					20																	30602845		2203	4300	6503	SO:0001583	missense	140706							g.chr20:30602845C>A	AL031658	CCDS13195.1	20q11.21	2012-10-30	2012-10-30	2012-10-30	ENSG00000101331	ENSG00000101331			16153	protein-coding gene	gene with protein product			"""chromosome 20 open reading frame 160"""	C20orf160			Standard	NM_080625		Approved	dJ310O13.5	uc002wxf.2	Q9NUG4	OTTHUMG00000032197	ENST00000300415.8:c.169C>A	20.37:g.30602845C>A	ENSP00000300415:p.Leu57Met					CCM2L_ENST00000262659.8_Missense_Mutation_p.L57M	p.L57M							2	182	+								Q5JYR9|Q8N5F1|Q8N6G8|Q96MD5	Missense_Mutation	SNP	ENST00000300415.8	37	c.169C>A		.	.	.	.	.	.	.	.	.	.	C	18.13	3.555250	0.65425	.	.	ENSG00000101331	ENST00000300415;ENST00000339619;ENST00000262659	T;T	0.61040	0.14;0.14	4.53	3.59	0.41128	.	0.069952	0.64402	D	0.000016	T	0.72269	0.3439	M	0.74881	2.28	0.34129	D	0.665082	D	0.76494	0.999	D	0.68192	0.956	T	0.81540	-0.0886	10	0.72032	D	0.01	-19.5207	11.4727	0.50280	0.0:0.9127:0.0:0.0873	.	57	Q9NUG4-2	.	M	57	ENSP00000300415:L57M;ENSP00000262659:L57M	ENSP00000262659:L57M	L	+	1	2	C20orf160	30066506	1.000000	0.71417	1.000000	0.80357	0.997000	0.91878	3.462000	0.53042	1.125000	0.41998	0.563000	0.77884	CTG		0.617	CCM2L-201	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_080625		44	76	1	0	3.4345e-17	1	4.07101e-17	44	76				
AGBL1	123624	broad.mit.edu	37	15	87531236	87531236	+	Missense_Mutation	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr15:87531236C>A	ENST00000441037.2	+	23	3197	c.3102C>A	c.(3100-3102)ttC>ttA	p.F1034L	RP11-133L19.1_ENST00000558587.1_RNA|AGBL1_ENST00000389298.3_Missense_Mutation_p.F765L|AGBL1_ENST00000421325.2_Missense_Mutation_p.F1034L	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN	ATP/GTP binding protein-like 1	1034			Missing (in FECD8; enriched in the nucleus, decreased TCF4-binding). {ECO:0000269|PubMed:24094747}.		C-terminal protein deglutamylation (GO:0035609)|protein side chain deglutamylation (GO:0035610)	cytoplasm (GO:0005737)	metallocarboxypeptidase activity (GO:0004181)|tubulin binding (GO:0015631)|zinc ion binding (GO:0008270)			NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						catccaatttcctgccaaagc	0.333																																						ENST00000441037.2																			0				NS(3)|breast(1)|endometrium(5)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(8)|liver(2)|lung(28)|ovary(2)|prostate(4)|skin(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	62						c.(3100-3102)ttC>ttA		ATP/GTP binding protein-like 1							228.0	218.0	221.0					15																	87531236		1843	4082	5925	SO:0001583	missense	123624				C-terminal protein deglutamylation|protein side chain deglutamylation|proteolysis	cytosol	metallocarboxypeptidase activity|tubulin binding|zinc ion binding	g.chr15:87531236C>A	AK056872	CCDS58398.1	15q25.3	2014-06-23			ENSG00000166748	ENSG00000166748			26504	protein-coding gene	gene with protein product	"""cytosolic carboxypeptidase 4"""	615496				21074048, 24094747	Standard	NM_152336		Approved	FLJ32310, CCP4	uc002blz.1	Q96MI9	OTTHUMG00000149978	ENST00000441037.2:c.3102C>A	15.37:g.87531236C>A	ENSP00000413001:p.Phe1034Leu					RP11-133L19.1_ENST00000558587.1_RNA|AGBL1_ENST00000389298.3_Missense_Mutation_p.F765L|AGBL1_ENST00000421325.2_Missense_Mutation_p.F1034L	p.F1034L	NM_152336.2	NP_689549.2	Q96MI9	CBPC4_HUMAN			23	3197	+			1034					A1A4X5|A6NJH6|C9JHL5	Missense_Mutation	SNP	ENST00000441037.2	37	c.3102C>A	CCDS58398.1	.	.	.	.	.	.	.	.	.	.	C	4.894	0.166197	0.09339	.	.	ENSG00000166748	ENST00000421325;ENST00000389298	T;T	0.07114	3.24;3.22	1.34	0.387	0.16259	.	.	.	.	.	T	0.03564	0.0102	N	0.08118	0	0.09310	N	1	B	0.02656	0.0	B	0.01281	0.0	T	0.44757	-0.9307	9	0.27785	T	0.31	.	3.6829	0.08317	0.0:0.7413:0.0:0.2587	.	1034	Q96MI9	CBPC4_HUMAN	L	1034;765	ENSP00000397173:F1034L;ENSP00000373949:F765L	ENSP00000373949:F765L	F	+	3	2	AGBL1	85332240	0.000000	0.05858	0.004000	0.12327	0.018000	0.09664	-0.301000	0.08232	0.122000	0.18314	-0.474000	0.04947	TTC		0.333	AGBL1-001	KNOWN	not_organism_supported|basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000314929.5	NM_152336		56	107	1	0	2.91325e-39	1	3.66544e-39	56	107				
PTCHD4	442213	broad.mit.edu	37	6	48035979	48035979	+	Missense_Mutation	SNP	A	A	G			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr6:48035979A>G	ENST00000339488.4	-	1	446	c.413T>C	c.(412-414)gTg>gCg	p.V138A	PTCHD4_ENST00000543600.1_Missense_Mutation_p.V121A	NM_001013732.3	NP_001013754.3	Q6ZW05	PTHD4_HUMAN	patched domain containing 4	138						integral component of membrane (GO:0016021)	hedgehog receptor activity (GO:0008158)										CATTTCCAGCACGGCTCGGTG	0.493																																						ENST00000543600.1																			0											c.(361-363)gTg>gCg		patched domain containing 4							89.0	93.0	92.0					6																	48035979		1864	4105	5969	SO:0001583	missense	442213					integral to membrane	hedgehog receptor activity	g.chr6:48035979A>G		CCDS34473.2	6p12.3	2012-02-06	2012-02-06	2012-02-06	ENSG00000244694	ENSG00000244694			21345	protein-coding gene	gene with protein product			"""chromosome 6 open reading frame 138"""	C6orf138			Standard	NM_001013732		Approved	dJ402H5.2, FLJ41841	uc011dwm.2	Q6ZW05	OTTHUMG00000150404	ENST00000339488.4:c.413T>C	6.37:g.48035979A>G	ENSP00000341914:p.Val138Ala					PTCHD4_ENST00000339488.4_Missense_Mutation_p.V138A	p.V121A			Q6ZW05	CF138_HUMAN			1	401	-			138					B0QZ29|B4DRK3|Q5T884	Missense_Mutation	SNP	ENST00000339488.4	37	c.362T>C	CCDS34473.2	.	.	.	.	.	.	.	.	.	.	A	15.42	2.827365	0.50739	.	.	ENSG00000244694	ENST00000339488;ENST00000543600	D;T	0.93953	-3.32;0.27	5.13	5.13	0.70059	.	0.067843	0.64402	D	0.000011	D	0.90079	0.6901	M	0.61703	1.905	0.80722	D	1	P;P	0.49961	0.826;0.93	B;P	0.48627	0.438;0.584	D	0.89093	0.3484	10	0.12766	T	0.61	.	14.9375	0.70967	1.0:0.0:0.0:0.0	.	138;121	Q6ZW05;B0QZ29	CF138_HUMAN;.	A	138;121	ENSP00000341914:V138A;ENSP00000439864:V121A	ENSP00000341914:V138A	V	-	2	0	C6orf138	48143938	1.000000	0.71417	1.000000	0.80357	0.984000	0.73092	8.856000	0.92245	1.921000	0.55644	0.460000	0.39030	GTG		0.493	PTCHD4-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000317987.2	NM_001013732		45	98	0	0	0	1	0	45	98				
SLC12A9	56996	broad.mit.edu	37	7	100459110	100459110	+	Silent	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:100459110C>T	ENST00000354161.3	+	11	1565	c.1440C>T	c.(1438-1440)ggC>ggT	p.G480G	SLC12A9_ENST00000415287.1_Silent_p.G391G|SLC12A9_ENST00000275729.3_Silent_p.G391G|SLC12A9_ENST00000428758.1_Silent_p.G480G|SLC12A9_ENST00000540482.1_Silent_p.G480G	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN	solute carrier family 12, member 9	480					chloride transmembrane transport (GO:1902476)|chloride transport (GO:0006821)	extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	cation:chloride symporter activity (GO:0015377)			breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41	Lung NSC(181;0.041)|all_lung(186;0.0581)					CGGCTGGTGGCTCCCTGCTCC	0.652																																						ENST00000354161.3																			0				breast(1)|endometrium(2)|kidney(2)|large_intestine(10)|lung(20)|ovary(1)|skin(3)|stomach(1)|urinary_tract(1)	41						c.(1438-1440)ggC>ggT		solute carrier family 12, member 9							68.0	67.0	68.0					7																	100459110		2203	4300	6503	SO:0001819	synonymous_variant	56996					integral to membrane|plasma membrane	cation:chloride symporter activity	g.chr7:100459110C>T	AF284422	CCDS5707.1, CCDS59068.1, CCDS59069.1	7q22	2013-07-18	2013-07-18		ENSG00000146828	ENSG00000146828		"""Solute carriers"""	17435	protein-coding gene	gene with protein product	"""cation-chloride cotransporter-interacting protein"""					10871601, 11239002	Standard	NM_020246		Approved	CIP1	uc003uwp.4	Q9BXP2	OTTHUMG00000156045	ENST00000354161.3:c.1440C>T	7.37:g.100459110C>T						SLC12A9_ENST00000415287.1_Silent_p.G391G|SLC12A9_ENST00000540482.1_Silent_p.G480G|SLC12A9_ENST00000428758.1_Silent_p.G480G|SLC12A9_ENST00000275729.3_Silent_p.G391G	p.G480G	NM_020246.3	NP_064631.2	Q9BXP2	S12A9_HUMAN			11	1565	+	Lung NSC(181;0.041)|all_lung(186;0.0581)		480					B7Z740|D6W5X0|D6W5X2|F5H8C2|Q9BWL2|Q9BXP1|Q9BYI0|Q9NQR5	Silent	SNP	ENST00000354161.3	37	c.1440C>T	CCDS5707.1																																																																																				0.652	SLC12A9-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342837.1	NM_020246		54	119	0	0	0	1	0	54	119				
GAS2	2620	broad.mit.edu	37	11	22707310	22707310	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:22707310G>A	ENST00000454584.2	+	3	547	c.242G>A	c.(241-243)aGc>aAc	p.S81N	GAS2_ENST00000433790.1_Missense_Mutation_p.S81N|GAS2_ENST00000278187.3_Missense_Mutation_p.S81N|GAS2_ENST00000533092.1_3'UTR|RNA5SP338_ENST00000410495.1_RNA	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN	growth arrest-specific 2	81	CH. {ECO:0000255|PROSITE- ProRule:PRU00044}.				apoptotic process (GO:0006915)|cell cycle arrest (GO:0007050)|cellular component disassembly involved in execution phase of apoptosis (GO:0006921)|regulation of cell shape (GO:0008360)	actin filament (GO:0005884)|cytosol (GO:0005829)|membrane (GO:0016020)				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						TTCAAGGAGAGCATGGATGCT	0.383																																						ENST00000454584.2																			0				breast(1)|endometrium(1)|kidney(3)|large_intestine(5)|lung(8)|ovary(1)|skin(4)|stomach(1)	24						c.(241-243)aGc>aAc		growth arrest-specific 2							87.0	82.0	84.0					11																	22707310		2203	4300	6503	SO:0001583	missense	2620				cell cycle arrest|cellular component disassembly involved in apoptosis|regulation of cell shape	actin filament|cytosol|membrane		g.chr11:22707310G>A	BC040470	CCDS7858.1	11p14.3	2005-10-11			ENSG00000148935	ENSG00000148935			4167	protein-coding gene	gene with protein product		602835				9521882	Standard	NM_005256		Approved		uc001mqo.3	O43903	OTTHUMG00000166071	ENST00000454584.2:c.242G>A	11.37:g.22707310G>A	ENSP00000401145:p.Ser81Asn					GAS2_ENST00000278187.3_Missense_Mutation_p.S81N|GAS2_ENST00000433790.1_Missense_Mutation_p.S81N|GAS2_ENST00000533092.1_3'UTR	p.S81N	NM_001143830.1	NP_001137302.1	O43903	GAS2_HUMAN			3	547	+			81			CH.		B2R9C8|D3DQZ0|Q6ICV8|Q7Z3X8	Missense_Mutation	SNP	ENST00000454584.2	37	c.242G>A	CCDS7858.1	.	.	.	.	.	.	.	.	.	.	G	10.01	1.233990	0.22626	.	.	ENSG00000148935	ENST00000528582;ENST00000454584;ENST00000533363;ENST00000278187;ENST00000534801;ENST00000532398;ENST00000433790	T;T;T;T;T	0.44083	0.93;0.93;0.93;0.94;0.93	5.42	3.47	0.39725	Calponin homology domain (5);	0.368557	0.34338	N	0.004053	T	0.28267	0.0698	L	0.34521	1.04	0.36963	D	0.893421	B	0.06786	0.001	B	0.06405	0.002	T	0.16867	-1.0388	10	0.26408	T	0.33	-2.8043	8.2405	0.31658	0.1385:0.1347:0.7268:0.0	.	81	O43903	GAS2_HUMAN	N	81	ENSP00000432584:S81N;ENSP00000401145:S81N;ENSP00000278187:S81N;ENSP00000435946:S81N;ENSP00000396708:S81N	ENSP00000278187:S81N	S	+	2	0	GAS2	22663886	0.985000	0.35326	1.000000	0.80357	0.738000	0.42128	2.147000	0.42226	1.390000	0.46547	0.655000	0.94253	AGC		0.383	GAS2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000387717.1	NM_177553		17	43	0	0	0	1	0	17	43				
ZNF276	92822	broad.mit.edu	37	16	89788984	89788984	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr16:89788984G>A	ENST00000443381.2	+	2	348	c.251G>A	c.(250-252)gGg>gAg	p.G84E	ZNF276_ENST00000568064.1_Missense_Mutation_p.G9E|VPS9D1_ENST00000389386.3_5'Flank|ZNF276_ENST00000446326.2_5'UTR|ZNF276_ENST00000289816.5_Missense_Mutation_p.G9E	NM_001113525.1	NP_001106997.1	Q8N554	ZN276_HUMAN	zinc finger protein 276	84	ZAD.				regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|zinc ion binding (GO:0008270)			cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)		BRCA - Breast invasive adenocarcinoma(80;0.0278)		CTCTGCCACGGGAAGTTTTCC	0.647																																						ENST00000289816.5																			0				cervix(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(2)|lung(6)|prostate(1)	14						c.(25-27)gGg>gAg		zinc finger protein 276							46.0	51.0	49.0					16																	89788984		2198	4296	6494	SO:0001583	missense	92822				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding|zinc ion binding	g.chr16:89788984G>A	AK026482	CCDS10986.1, CCDS45554.1	16q24.3	2014-02-17	2006-02-10	2006-02-10	ENSG00000158805	ENSG00000158805		"""Zinc fingers, C2H2-type"""	23330	protein-coding gene	gene with protein product	"""centromere protein Z"", ""zinc finger, AD-type"""	608460	"""zinc finger protein 276 homolog (mouse)"""	ZFP276		10936049, 20813266	Standard	NM_152287		Approved	MGC45417, ZNF477, CENPZ, CENP-Z, ZADT	uc002fos.4	Q8N554	OTTHUMG00000138050	ENST00000443381.2:c.251G>A	16.37:g.89788984G>A	ENSP00000415836:p.Gly84Glu					ZNF276_ENST00000446326.2_5'UTR|ZNF276_ENST00000443381.2_Missense_Mutation_p.G84E|ZNF276_ENST00000568064.1_Missense_Mutation_p.G9E	p.G9E	NM_152287.3	NP_689500.2	Q8N554	ZN276_HUMAN		BRCA - Breast invasive adenocarcinoma(80;0.0278)	2	338	+		Lung NSC(15;2.19e-05)|all_lung(18;3.07e-05)|all_hematologic(23;0.0256)	84					Q0VGA1|Q2TBE8|Q3B7H7	Missense_Mutation	SNP	ENST00000443381.2	37	c.26G>A	CCDS45554.1	.	.	.	.	.	.	.	.	.	.	G	32	5.178822	0.94846	.	.	ENSG00000158805	ENST00000289816;ENST00000443381	T;T	0.27402	1.82;1.67	5.27	4.31	0.51392	Zinc finger, AD-type (1);	0.000000	0.85682	D	0.000000	T	0.45074	0.1324	L	0.32530	0.975	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	T	0.46789	-0.9166	10	0.87932	D	0	-32.5759	15.0272	0.71680	0.0:0.1427:0.8573:0.0	.	84;9	Q8N554;Q8N554-2	ZN276_HUMAN;.	E	9;84	ENSP00000289816:G9E;ENSP00000415836:G84E	ENSP00000289816:G9E	G	+	2	0	ZNF276	88316485	1.000000	0.71417	1.000000	0.80357	0.961000	0.63080	8.602000	0.90868	1.222000	0.43521	0.655000	0.94253	GGG		0.647	ZNF276-004	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000422517.1	NM_152287		25	85	0	0	0	1	0	25	85				
IL18RAP	8807	broad.mit.edu	37	2	103061768	103061768	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:103061768C>T	ENST00000264260.2	+	9	1629	c.1040C>T	c.(1039-1041)aCc>aTc	p.T347I	IL18RAP_ENST00000409369.1_Missense_Mutation_p.T205I	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN	interleukin 18 receptor accessory protein	347	Ig-like C2-type 2.				cell surface receptor signaling pathway (GO:0007166)|immune response (GO:0006955)|inflammatory response (GO:0006954)	integral component of membrane (GO:0016021)	receptor activity (GO:0004872)			autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						GGAAACACAACCCAGTCCGTC	0.453																																						ENST00000264260.2																			0				autonomic_ganglia(1)|central_nervous_system(2)|endometrium(3)|kidney(4)|large_intestine(5)|lung(10)|ovary(2)|prostate(1)|skin(5)|urinary_tract(4)	37						c.(1039-1041)aCc>aTc		interleukin 18 receptor accessory protein							95.0	91.0	92.0					2																	103061768		2203	4300	6503	SO:0001583	missense	8807				cell surface receptor linked signaling pathway|inflammatory response|innate immune response	integral to membrane	transmembrane receptor activity	g.chr2:103061768C>T	AF077346	CCDS2061.1	2q12.1	2013-01-11			ENSG00000115607	ENSG00000115607		"""Interleukins and interleukin receptors"", ""CD molecules"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	5989	protein-coding gene	gene with protein product		604509				9792649	Standard	XM_005264034		Approved	AcPL, CD218b	uc002tbx.3	O95256	OTTHUMG00000130777	ENST00000264260.2:c.1040C>T	2.37:g.103061768C>T	ENSP00000264260:p.Thr347Ile					IL18RAP_ENST00000409369.1_Missense_Mutation_p.T205I	p.T347I	NM_003853.2	NP_003844.1	O95256	I18RA_HUMAN			9	1629	+			347			Ig-like C2-type 2.		B2RPJ3|Q3KPE7|Q3KPE8|Q53TT4|Q53TU5	Missense_Mutation	SNP	ENST00000264260.2	37	c.1040C>T	CCDS2061.1	.	.	.	.	.	.	.	.	.	.	C	8.611	0.889234	0.17540	.	.	ENSG00000115607	ENST00000264260;ENST00000409369	T;T	0.14516	2.5;2.5	5.63	3.83	0.44106	Immunoglobulin subtype (1);Immunoglobulin-like (1);Immunoglobulin-like fold (1);	0.172440	0.41396	D	0.000889	T	0.28699	0.0711	M	0.73598	2.24	0.09310	N	0.999999	D	0.53312	0.959	P	0.57620	0.824	T	0.04781	-1.0927	10	0.41790	T	0.15	.	10.0917	0.42451	0.0:0.8475:0.0:0.1525	.	347	O95256	I18RA_HUMAN	I	347;205	ENSP00000264260:T347I;ENSP00000387201:T205I	ENSP00000264260:T347I	T	+	2	0	IL18RAP	102428200	0.783000	0.28701	0.022000	0.16811	0.005000	0.04900	3.305000	0.51873	1.386000	0.46466	0.655000	0.94253	ACC		0.453	IL18RAP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253291.2	NM_003853		11	43	0	0	0	1	0	11	43				
PCDHB16	57717	broad.mit.edu	37	5	140563815	140563815	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr5:140563815G>A	ENST00000361016.2	+	1	2836	c.1681G>A	c.(1681-1683)Gtg>Atg	p.V561M		NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	protocadherin beta 16	561	Cadherin 5. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			CTCGCCCTTCGTGCTGTACCC	0.716																																						ENST00000361016.2																			0				breast(1)|endometrium(10)|kidney(3)|large_intestine(14)|lung(29)|ovary(5)|pancreas(2)|prostate(3)|skin(1)|urinary_tract(1)	69						c.(1681-1683)Gtg>Atg									11.0	14.0	13.0					5																	140563815		1907	3778	5685	SO:0001583	missense	57717				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140563815G>A	AF217757	CCDS4251.1	5q31	2014-04-11			ENSG00000196963			"""Cadherins / Protocadherins : Clustered"""	14546	other	protocadherin	"""cadherin ME1"", ""protocadherin-3x"", ""PCDHbeta 16"""	606345				11230163, 11322959	Standard	NM_020957		Approved	PCDHB8a, PCDH3X, KIAA1621, PCDH-BETA16, ME1	uc003liv.3	Q9NRJ7	OTTHUMG00000188325	ENST00000361016.2:c.1681G>A	5.37:g.140563815G>A	ENSP00000354293:p.Val561Met						p.V561M	NM_020957.1	NP_066008.1	Q9NRJ7	PCDBG_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	2836	+			561			Cadherin 5.		B3KPK5|Q8IYD5|Q96SE9|Q9HCF1	Missense_Mutation	SNP	ENST00000361016.2	37	c.1681G>A	CCDS4251.1	.	.	.	.	.	.	.	.	.	.	g	18.24	3.580989	0.65992	.	.	ENSG00000196963	ENST00000361016	T	0.02050	4.48	4.12	4.12	0.48240	Cadherin (2);Cadherin-like (1);	0.000000	0.31404	N	0.007710	T	0.07773	0.0195	M	0.62016	1.91	0.27438	N	0.95379	D	0.89917	1.0	D	0.68192	0.956	T	0.04347	-1.0958	10	0.87932	D	0	.	6.2419	0.20795	0.0971:0.0:0.7174:0.1855	.	561	Q9NRJ7	PCDBG_HUMAN	M	561	ENSP00000354293:V561M	ENSP00000354293:V561M	V	+	1	0	PCDHB16	140543999	0.185000	0.23213	1.000000	0.80357	0.997000	0.91878	0.588000	0.23924	1.860000	0.53959	0.479000	0.44913	GTG		0.716	PCDHB16-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251800.1	NM_020957		31	19	0	0	0	1	0	31	19				
HLA-G	3135	broad.mit.edu	37	6	29797592	29797592	+	Splice_Site	SNP	G	G	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr6:29797592G>T	ENST00000360323.6	+	5	919		c.e5-1		HLA-G_ENST00000376828.2_Splice_Site|HLA-G_ENST00000428701.1_Splice_Site|HLA-G_ENST00000376818.3_Splice_Site|HLA-G_ENST00000376815.3_Splice_Site			P17693	HLAG_HUMAN	major histocompatibility complex, class I, G						antigen processing and presentation of exogenous peptide antigen via MHC class I (GO:0042590)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-dependent (GO:0002479)|antigen processing and presentation of exogenous peptide antigen via MHC class I, TAP-independent (GO:0002480)|antigen processing and presentation of peptide antigen via MHC class I (GO:0002474)|cellular defense response (GO:0006968)|cytokine-mediated signaling pathway (GO:0019221)|immune response-inhibiting cell surface receptor signaling pathway (GO:0002767)|interferon-gamma-mediated signaling pathway (GO:0060333)|negative regulation of dendritic cell differentiation (GO:2001199)|negative regulation of T cell proliferation (GO:0042130)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of regulatory T cell differentiation (GO:0045591)|positive regulation of T cell mediated cytotoxicity (GO:0001916)|positive regulation of T cell tolerance induction (GO:0002666)|regulation of immune response (GO:0050776)|type I interferon signaling pathway (GO:0060337)	early endosome membrane (GO:0031901)|ER to Golgi transport vesicle membrane (GO:0012507)|Golgi membrane (GO:0000139)|integral component of lumenal side of endoplasmic reticulum membrane (GO:0071556)|membrane (GO:0016020)|MHC class I protein complex (GO:0042612)|phagocytic vesicle membrane (GO:0030670)|plasma membrane (GO:0005886)	peptide antigen binding (GO:0042605)|protein homodimerization activity (GO:0042803)|receptor binding (GO:0005102)			central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						TCCTTTCCCAGAGCAGTCTTC	0.582																																						ENST00000428701.1																			0				central_nervous_system(1)|endometrium(1)|large_intestine(5)|lung(4)|ovary(3)|pancreas(1)|prostate(5)|skin(1)	21						c.e6-1		major histocompatibility complex, class I, G							99.0	83.0	89.0					6																	29797592		2203	4300	6503	SO:0001630	splice_region_variant	3135				antigen processing and presentation of peptide antigen via MHC class I|cellular defense response|interferon-gamma-mediated signaling pathway|regulation of immune response|type I interferon-mediated signaling pathway	integral to membrane|MHC class I protein complex	MHC class I receptor activity	g.chr6:29797592G>T		CCDS4668.1	6p21.3	2013-01-11	2007-12-12		ENSG00000204632	ENSG00000204632		"""Histocompatibility complex"", ""Immunoglobulin superfamily / C1-set domain containing"""	4964	protein-coding gene	gene with protein product	"""b2 microglobulin"""	142871	"""HLA-G histocompatibility antigen, class I, G"""				Standard	NM_002127		Approved		uc003nnw.2	P17693	OTTHUMG00000031157	ENST00000360323.6:c.896-1G>T	6.37:g.29797592G>T						HLA-G_ENST00000376815.3_Splice_Site|HLA-G_ENST00000360323.6_Splice_Site|HLA-G_ENST00000376818.3_Splice_Site|HLA-G_ENST00000376828.2_Splice_Site		NM_002127.5	NP_002118.1	P17693	HLAG_HUMAN			6	1073	+									Splice_Site	SNP	ENST00000360323.6	37		CCDS4668.1	.	.	.	.	.	.	.	.	.	.	-	6.637	0.486017	0.12641	.	.	ENSG00000204632	ENST00000376828;ENST00000428701;ENST00000360323;ENST00000376818;ENST00000376815	.	.	.	2.23	2.23	0.28157	.	.	.	.	.	.	.	.	.	.	.	0.40008	D	0.97524	.	.	.	.	.	.	.	.	.	.	.	.	.	.	8.1654	0.31224	0.0:0.0:1.0:0.0	.	.	.	.	.	-1	.	.	.	+	.	.	HLA-G	29905571	0.500000	0.26091	0.020000	0.16555	0.061000	0.15899	3.305000	0.51873	0.948000	0.37687	0.291000	0.19559	.		0.582	HLA-G-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000076286.2	NM_002127	Intron	25	75	1	0	7.76418e-22	1	9.47755e-22	25	75				
MIER2	54531	broad.mit.edu	37	19	307340	307340	+	Silent	SNP	G	G	A	rs370482286		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:307340G>A	ENST00000264819.4	-	13	1405	c.1395C>T	c.(1393-1395)gaC>gaT	p.D465D	CTD-3113P16.5_ENST00000591533.1_RNA	NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN	mesoderm induction early response 1, family member 2	465					regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|DNA binding (GO:0003677)			endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)		TTGGGCTGGCGTCTGGCTCCG	0.687																																						ENST00000264819.4																			0				endometrium(4)|kidney(1)|large_intestine(5)|lung(8)|prostate(2)|skin(1)|upper_aerodigestive_tract(1)	22						c.(1393-1395)gaC>gaT		mesoderm induction early response 1, family member 2		G		0,4398		0,0,2199	17.0	18.0	18.0		1395	-8.1	0.0	19		18	1,8593		0,1,4296	no	coding-synonymous	MIER2	NM_017550.1		0,1,6495	AA,AG,GG		0.0116,0.0,0.0077		465/546	307340	1,12991	2199	4297	6496	SO:0001819	synonymous_variant	54531				regulation of transcription, DNA-dependent|transcription, DNA-dependent	nucleus	DNA binding	g.chr19:307340G>A	AB033019	CCDS32855.1	19p13.3	2008-02-05	2006-04-20	2006-04-20		ENSG00000105556			29210	protein-coding gene	gene with protein product			"""KIAA1193"""	KIAA1193		10574462	Standard	NM_017550		Approved		uc002lok.1	Q8N344		ENST00000264819.4:c.1395C>T	19.37:g.307340G>A							p.D465D	NM_017550.1	NP_060020.1	Q8N344	MIER2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|OV - Ovarian serous cystadenocarcinoma(105;1.09e-113)|Epithelial(107;3.79e-112)|all cancers(105;1.67e-104)|BRCA - Breast invasive adenocarcinoma(158;0.00136)|STAD - Stomach adenocarcinoma(1328;0.18)	13	1405	-		all_cancers(10;1.05e-30)|all_epithelial(18;3.04e-19)|Acute lymphoblastic leukemia(61;4.36e-14)|all_hematologic(61;4.84e-09)|Lung NSC(49;2.49e-05)|all_lung(49;4.36e-05)|Breast(49;0.000304)	465					Q9ULM7	Silent	SNP	ENST00000264819.4	37	c.1395C>T	CCDS32855.1																																																																																				0.687	MIER2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451784.1	XM_041843		8	14	0	0	0	1	0	8	14				
YTHDC1	91746	broad.mit.edu	37	4	69179981	69179981	+	Missense_Mutation	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr4:69179981G>A	ENST00000344157.4	-	17	2355	c.2020C>T	c.(2020-2022)Cgg>Tgg	p.R674W	YTHDC1_ENST00000579690.1_Missense_Mutation_p.R682W|YTHDC1_ENST00000355665.3_Missense_Mutation_p.R656W	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN	YTH domain containing 1	674	Arg-rich.				mRNA splice site selection (GO:0006376)	nucleus (GO:0005634)	poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)			NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						CTACTTCTCCGGCCACTGACA	0.483																																						ENST00000344157.4																			0				NS(1)|breast(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(10)|lung(7)|ovary(1)|prostate(1)|upper_aerodigestive_tract(2)	30						c.(2020-2022)Cgg>Tgg		YTH domain containing 1							79.0	71.0	73.0					4																	69179981		2203	4300	6503	SO:0001583	missense	91746							g.chr4:69179981G>A	AK098515	CCDS3522.2, CCDS33992.1	4q13.3	2009-01-14			ENSG00000083896	ENSG00000083896			30626	protein-coding gene	gene with protein product						12368078, 10564280	Standard	XM_005265706		Approved	YT521, KIAA1966, YT521-B	uc003hdx.3	Q96MU7	OTTHUMG00000129306	ENST00000344157.4:c.2020C>T	4.37:g.69179981G>A	ENSP00000339245:p.Arg674Trp					YTHDC1_ENST00000579690.1_Missense_Mutation_p.R682W|YTHDC1_ENST00000355665.3_Missense_Mutation_p.R656W	p.R674W	NM_001031732.2	NP_001026902.1	Q96MU7	YTDC1_HUMAN			17	2355	-			674			Arg-rich.		Q4W5Q3|Q7Z622|Q8TF35	Missense_Mutation	SNP	ENST00000344157.4	37	c.2020C>T	CCDS33992.1	.	.	.	.	.	.	.	.	.	.	G	16.99	3.274058	0.59649	.	.	ENSG00000083896	ENST00000344157;ENST00000355665	T;T	0.28069	1.66;1.63	5.57	5.57	0.84162	.	0.055302	0.64402	D	0.000001	T	0.32285	0.0824	L	0.27053	0.805	0.58432	D	0.999999	D;D	0.71674	0.998;0.997	P;B	0.50754	0.649;0.446	T	0.06162	-1.0842	10	0.87932	D	0	.	14.4002	0.67037	0.0:0.0:0.8524:0.1476	.	656;674	Q96MU7-2;Q96MU7	.;YTDC1_HUMAN	W	674;656	ENSP00000339245:R674W;ENSP00000347888:R656W	ENSP00000339245:R674W	R	-	1	2	YTHDC1	68862576	1.000000	0.71417	0.996000	0.52242	0.996000	0.88848	4.570000	0.60872	2.628000	0.89032	0.591000	0.81541	CGG		0.483	YTHDC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251437.1	NM_133370		17	26	0	0	0	1	0	17	26				
TRMT1	55621	broad.mit.edu	37	19	13221024	13221024	+	Missense_Mutation	SNP	G	G	A	rs542184779		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:13221024G>A	ENST00000592062.1	-	9	1537	c.967C>T	c.(967-969)Cgt>Tgt	p.R323C	TRMT1_ENST00000437766.1_Missense_Mutation_p.R323C|TRMT1_ENST00000357720.4_Missense_Mutation_p.R323C|TRMT1_ENST00000221504.8_Missense_Mutation_p.R323C			Q9NXH9	TRM1_HUMAN	tRNA methyltransferase 1 homolog (S. cerevisiae)	323	Trm1 methyltransferase. {ECO:0000255|PROSITE-ProRule:PRU00958}.						metal ion binding (GO:0046872)|poly(A) RNA binding (GO:0044822)|tRNA (guanine-N2-)-methyltransferase activity (GO:0004809)|tRNA binding (GO:0000049)			endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14			OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)		ACAAAAACACGCACGTAGAAG	0.632																																						ENST00000592062.1																			0				endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(2)|lung(5)|ovary(1)|pancreas(1)|prostate(2)|upper_aerodigestive_tract(1)	14						c.(967-969)Cgt>Tgt		tRNA methyltransferase 1 homolog (S. cerevisiae)							58.0	54.0	55.0					19																	13221024		2203	4300	6503	SO:0001583	missense	55621						RNA binding|tRNA (guanine-N2-)-methyltransferase activity|zinc ion binding	g.chr19:13221024G>A	AF196479	CCDS12293.1, CCDS45997.1	19p13.13	2012-06-12	2012-06-12						25980	protein-coding gene	gene with protein product		611669				10982862	Standard	NM_001142554		Approved	FLJ20244, TRM1	uc002mwl.3	Q9NXH9		ENST00000592062.1:c.967C>T	19.37:g.13221024G>A	ENSP00000466967:p.Arg323Cys					TRMT1_ENST00000357720.4_Missense_Mutation_p.R323C|TRMT1_ENST00000437766.1_Missense_Mutation_p.R323C|TRMT1_ENST00000221504.8_Missense_Mutation_p.R323C	p.R323C			Q9NXH9	TRM1_HUMAN	OV - Ovarian serous cystadenocarcinoma(19;6.08e-22)	GBM - Glioblastoma multiforme(1328;0.0356)	9	1537	-			323					O76103|Q548Y5|Q8WVA6	Missense_Mutation	SNP	ENST00000592062.1	37	c.967C>T	CCDS12293.1	.	.	.	.	.	.	.	.	.	.	G	21.1	4.103179	0.76983	.	.	ENSG00000104907	ENST00000357720;ENST00000437766;ENST00000221504	.	.	.	4.77	3.73	0.42828	.	0.000000	0.85682	D	0.000000	D	0.86205	0.5877	H	0.96175	3.78	0.80722	D	1	D;D	0.89917	1.0;1.0	D;D	0.97110	1.0;1.0	D	0.89480	0.3749	9	0.87932	D	0	-18.3465	12.163	0.54115	0.0:0.0:0.8279:0.1721	.	323;323	Q9NXH9-2;Q9NXH9	.;TRM1_HUMAN	C	323	.	ENSP00000221504:R323C	R	-	1	0	TRMT1	13082024	1.000000	0.71417	0.159000	0.22649	0.986000	0.74619	3.971000	0.56831	1.236000	0.43740	0.462000	0.41574	CGT		0.632	TRMT1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000452780.2	NM_017722		25	64	0	0	0	1	0	25	64				
SIX5	147912	broad.mit.edu	37	19	46271377	46271377	+	Silent	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:46271377G>A	ENST00000317578.6	-	1	1107	c.726C>T	c.(724-726)ctC>ctT	p.L242L	AC074212.6_ENST00000591530.1_RNA|AC074212.5_ENST00000592217.2_RNA|AC074212.6_ENST00000586498.1_RNA|AC074212.5_ENST00000559756.1_RNA|AC074212.6_ENST00000590076.1_RNA|SIX5_ENST00000560168.1_Intron|AC074212.6_ENST00000586251.1_RNA	NM_175875.4	NP_787071	Q8N196	SIX5_HUMAN	SIX homeobox 5	242					lens development in camera-type eye (GO:0002088)|negative regulation of cell proliferation (GO:0008285)|regulation of transcription, DNA-templated (GO:0006355)|spermatid development (GO:0007286)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	sequence-specific DNA binding (GO:0043565)			endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(192;0.0308)|all_neural(266;0.112)		OV - Ovarian serous cystadenocarcinoma(262;0.00783)|GBM - Glioblastoma multiforme(486;0.0802)|Epithelial(262;0.235)		TGACCTGCGTGAGCGACAGGC	0.731																																						ENST00000317578.6																			0				endometrium(1)|large_intestine(2)|lung(2)|ovary(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(724-726)ctC>ctT		SIX homeobox 5							19.0	21.0	20.0					19																	46271377		2200	4296	6496	SO:0001819	synonymous_variant	147912					cytoplasm|nucleus	protein binding|sequence-specific DNA binding transcription factor activity	g.chr19:46271377G>A	L08835	CCDS12673.1	19q13.32	2011-06-20	2007-07-13			ENSG00000177045		"""Homeoboxes / SINE class"""	10891	protein-coding gene	gene with protein product		600963	"""sine oculis homeobox (Drosophila) homolog 5"", ""sine oculis homeobox homolog 5 (Drosophila)"""	DMAHP		8595416	Standard	NM_175875		Approved		uc002pdb.3	Q8N196		ENST00000317578.6:c.726C>T	19.37:g.46271377G>A						AC074212.6_ENST00000590076.1_RNA|SIX5_ENST00000560168.1_Intron|AC074212.5_ENST00000559756.1_RNA	p.L242L	NM_175875.4	NP_787071.2	Q8N196	SIX5_HUMAN		OV - Ovarian serous cystadenocarcinoma(262;0.00783)|GBM - Glioblastoma multiforme(486;0.0802)|Epithelial(262;0.235)	1	1107	-		Ovarian(192;0.0308)|all_neural(266;0.112)	242						Silent	SNP	ENST00000317578.6	37	c.726C>T	CCDS12673.1																																																																																				0.731	SIX5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000417341.3	NM_175875		11	18	0	0	0	1	0	11	18				
GAREM	64762	broad.mit.edu	37	18	29867972	29867972	+	Silent	SNP	C	C	T	rs36093913	byFrequency	TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr18:29867972C>T	ENST00000269209.6	-	4	591	c.588G>A	c.(586-588)ccG>ccA	p.P196P	GAREM_ENST00000578619.1_5'UTR|GAREM_ENST00000399218.4_Silent_p.P196P|RP11-344B2.2_ENST00000579580.1_RNA			Q9H706	GAREM_HUMAN	GRB2 associated, regulator of MAPK1	196	CABIT.				cellular response to epidermal growth factor stimulus (GO:0071364)|epidermal growth factor receptor signaling pathway (GO:0007173)|positive regulation of cell division (GO:0051781)|positive regulation of cell proliferation (GO:0008284)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)	plasma membrane (GO:0005886)	proline-rich region binding (GO:0070064)										AAATGAGGCACGGCATTTTGC	0.453													C|||	22	0.00439297	0.0136	0.0058	5008	,	,		21620	0.0		0.0	False		,,,				2504	0.0					ENST00000399218.4																			0											c.(586-588)ccG>ccA		GRB2 associated, regulator of MAPK1		C	,	57,4349	55.5+/-91.7	0,57,2146	112.0	92.0	99.0		588,588	-11.3	0.0	18	dbSNP_126	99	0,8600		0,0,4300	no	coding-synonymous,coding-synonymous	FAM59A	NM_001242409.1,NM_022751.2	,	0,57,6446	TT,TC,CC		0.0,1.2937,0.4383	,	196/877,196/876	29867972	57,12949	2203	4300	6503	SO:0001819	synonymous_variant	64762							g.chr18:29867972C>T	AK025263	CCDS11905.1, CCDS56057.1	18q12.1	2012-11-30	2012-11-30	2012-11-30	ENSG00000141441	ENSG00000141441			26136	protein-coding gene	gene with protein product	"""Grb2-associated and regulator of Erk/MAPK"""		"""chromosome 18 open reading frame 11"", ""family with sequence similarity 59, member A"""	C18orf11, FAM59A		19509291	Standard	NM_001242409		Approved	FLJ21610	uc002kxl.3	Q9H706	OTTHUMG00000132273	ENST00000269209.6:c.588G>A	18.37:g.29867972C>T						GAREM_ENST00000578619.1_5'UTR|GAREM_ENST00000269209.6_Silent_p.P196P|RP11-344B2.2_ENST00000579580.1_RNA	p.P196P	NM_001242409.1|NM_022751.2	NP_001229338.1|NP_073588.1					4	643	-								Q0VAG3|Q0VAG4|Q8ND03|Q9BSF5	Silent	SNP	ENST00000269209.6	37	c.588G>A	CCDS56057.1																																																																																				0.453	GAREM-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000255365.1	NM_022751		15	21	0	0	0	1	0	15	21				
PCDHAC1	56135	broad.mit.edu	37	5	140308546	140308546	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr5:140308546G>T	ENST00000253807.2	+	1	2069	c.2069G>T	c.(2068-2070)tGt>tTt	p.C690F	PCDHA2_ENST00000526136.1_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA12_ENST00000398631.2_Intron|PCDHA4_ENST00000512229.2_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.C690F|PCDHA13_ENST00000409494.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA1_ENST00000504120.2_Intron	NM_018898.3	NP_061721.2	Q9H158	PCDC1_HUMAN	protocadherin alpha subfamily C, 1	690					cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			GCCTTGGCTTGTATTTCCTTT	0.483																																						ENST00000253807.2																			0				NS(2)|breast(3)|cervix(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(13)|liver(2)|lung(13)|ovary(3)|prostate(2)|skin(7)|upper_aerodigestive_tract(3)|urinary_tract(4)	65						c.(2068-2070)tGt>tTt									127.0	122.0	124.0					5																	140308546		2203	4300	6503	SO:0001583	missense	56135							g.chr5:140308546G>T	AF152473	CCDS4241.1	5q31	2010-11-26			ENSG00000248383	ENSG00000248383		"""Cadherins / Protocadherins : Clustered"""	8676	other	complex locus constituent	"""PCDH-ALPHA-C1"""	606320				10380929	Standard	NM_018898		Approved			Q9H158	OTTHUMG00000129603	ENST00000253807.2:c.2069G>T	5.37:g.140308546G>T	ENSP00000253807:p.Cys690Phe					PCDHA12_ENST00000398631.2_Intron|PCDHA11_ENST00000398640.2_Intron|PCDHAC1_ENST00000409700.3_Missense_Mutation_p.C690F|PCDHA1_ENST00000504120.2_Intron|PCDHA5_ENST00000529619.1_Intron|PCDHA10_ENST00000307360.5_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA5_ENST00000529859.1_Intron|PCDHA13_ENST00000289272.2_Intron|PCDHA13_ENST00000409494.1_Intron|PCDHA7_ENST00000525929.1_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA6_ENST00000527624.1_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA8_ENST00000531613.1_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA9_ENST00000532602.1_Intron|PCDHA6_ENST00000529310.1_Intron|PCDHA10_ENST00000506939.2_Intron|PCDHA4_ENST00000512229.2_Intron	p.C690F	NM_018898.3	NP_061721.2			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	2069	+								Q9Y5F5|Q9Y5I5	Missense_Mutation	SNP	ENST00000253807.2	37	c.2069G>T	CCDS4241.1	.	.	.	.	.	.	.	.	.	.	G	12.64	1.999796	0.35320	.	.	ENSG00000248383	ENST00000409700;ENST00000253807	T;T	0.13196	2.61;2.61	5.95	5.03	0.67393	.	.	.	.	.	T	0.15305	0.0369	L	0.42245	1.32	0.09310	N	1	P;B	0.43431	0.807;0.021	B;B	0.42188	0.379;0.039	T	0.09885	-1.0654	9	0.52906	T	0.07	.	11.6282	0.51158	0.0:0.1336:0.7278:0.1386	.	690;690	Q9H158;Q9H158-2	PCDC1_HUMAN;.	F	690	ENSP00000386356:C690F;ENSP00000253807:C690F	ENSP00000253807:C690F	C	+	2	0	PCDHAC1	140288730	0.040000	0.19996	0.985000	0.45067	0.972000	0.66771	1.237000	0.32695	2.817000	0.96982	0.563000	0.77884	TGT		0.483	PCDHAC1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000251798.1	NM_018898		38	114	1	0	2.2871e-25	1	2.81983e-25	38	114				
KIAA0586	9786	broad.mit.edu	37	14	58943858	58943858	+	Missense_Mutation	SNP	T	T	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr14:58943858T>C	ENST00000556134.1	+	21	3072	c.2798T>C	c.(2797-2799)aTg>aCg	p.M933T	KIAA0586_ENST00000538571.2_3'UTR|KIAA0586_ENST00000354386.6_Missense_Mutation_p.M1001T|KIAA0586_ENST00000423743.3_Missense_Mutation_p.M904T|KIAA0586_ENST00000261244.5_Missense_Mutation_p.M872T	NM_001244190.1|NM_001244193.1	NP_001231119.1|NP_001231122.1	Q9BVV6	TALD3_HUMAN	KIAA0586	933					cilium assembly (GO:0042384)|cilium morphogenesis (GO:0060271)|regulation of establishment of protein localization (GO:0070201)|smoothened signaling pathway (GO:0007224)	centrosome (GO:0005813)|ciliary basal body (GO:0036064)|cytoplasm (GO:0005737)				endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						CAAGAAATAATGTCAAGAATT	0.398																																						ENST00000423743.3																			0				endometrium(4)|kidney(6)|large_intestine(8)|lung(12)|ovary(1)|prostate(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	34						c.(2710-2712)aTg>aCg		KIAA0586							84.0	74.0	77.0					14																	58943858		1834	4089	5923	SO:0001583	missense	9786							g.chr14:58943858T>C	AB011158	CCDS45115.1, CCDS58320.1, CCDS58321.1, CCDS58322.1, CCDS73639.1	14q23.1	2012-12-06			ENSG00000100578	ENSG00000100578			19960	protein-coding gene	gene with protein product		610178				16702409	Standard	NM_014749		Approved	Talpid3	uc010trr.2	Q9BVV6	OTTHUMG00000171141	ENST00000556134.1:c.2798T>C	14.37:g.58943858T>C	ENSP00000452351:p.Met933Thr					KIAA0586_ENST00000354386.6_Missense_Mutation_p.M1001T|KIAA0586_ENST00000261244.5_Missense_Mutation_p.M872T|KIAA0586_ENST00000556134.1_Missense_Mutation_p.M933T|KIAA0586_ENST00000538571.2_3'UTR	p.M904T	NM_001244191.1|NM_001244192.1	NP_001231120.1|NP_001231121.1	E9PGW8	E9PGW8_HUMAN			21	2969	+			872					B4DZB6|E7EWM8|J3KQH9|O60328|Q6NYC6|Q6UV20	Missense_Mutation	SNP	ENST00000556134.1	37	c.2711T>C	CCDS58321.1	.	.	.	.	.	.	.	.	.	.	T	18.24	3.579479	0.65878	.	.	ENSG00000100578	ENST00000354386;ENST00000556134;ENST00000423743;ENST00000261244;ENST00000546216	T;T;T;T	0.57595	0.39;0.39;0.39;0.39	5.7	5.7	0.88788	.	0.051426	0.85682	D	0.000000	T	0.72087	0.3417	M	0.76574	2.34	0.42593	D	0.99325	D;D;D;D;D;D	0.89917	1.0;1.0;0.999;0.984;1.0;1.0	D;D;D;D;D;D	0.83275	0.996;0.996;0.99;0.946;0.996;0.996	T	0.76214	-0.3041	10	0.87932	D	0	.	14.2008	0.65703	0.0:0.0:0.0:1.0	.	808;808;1001;872;933;904	F5GWA3;B7Z7W7;E7EWM8;E9PGW8;Q9BVV6;Q6UV20	.;.;.;.;K0586_HUMAN;.	T	1001;933;904;872;808	ENSP00000346359:M1001T;ENSP00000452351:M933T;ENSP00000399427:M904T;ENSP00000261244:M872T	ENSP00000261244:M872T	M	+	2	0	KIAA0586	58013611	1.000000	0.71417	1.000000	0.80357	0.994000	0.84299	5.156000	0.64905	2.175000	0.68902	0.533000	0.62120	ATG		0.398	KIAA0586-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000411887.1	NM_014749		2	1	0	0	0	1	0	2	1				
RECQL4	9401	broad.mit.edu	37	8	145739865	145739865	+	Silent	SNP	C	C	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr8:145739865C>A	ENST00000428558.2	-	10	1706	c.1665G>T	c.(1663-1665)tcG>tcT	p.S555S	RECQL4_ENST00000532237.1_5'UTR|CTD-2517M22.17_ENST00000580385.1_RNA	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	RecQ protein-like 4	555	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				DNA duplex unwinding (GO:0032508)|DNA recombination (GO:0006310)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA strand renaturation (GO:0000733)|multicellular organismal development (GO:0007275)	cytoplasm (GO:0005737)|membrane (GO:0016020)|nucleus (GO:0005634)	annealing helicase activity (GO:0036310)|ATP binding (GO:0005524)|ATP-dependent 3'-5' DNA helicase activity (GO:0043140)|bubble DNA binding (GO:0000405)|zinc ion binding (GO:0008270)			breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)			TGGTCATGCCCGAGTGTATGC	0.667			"""N, F, S"""			"""osteosarcoma, skin basal and sqamous cell"""		Genes defective in diseases associated with sensitivity to DNA damaging agents	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome																													ENST00000428558.2			yes	Rec		Rothmund-Thompson Syndrome	8	8q24.3	9401	"""N, F, S"""	RecQ protein-like 4			M		"""osteosarcoma, skin basal and sqamous cell"""			0				breast(2)|central_nervous_system(1)|endometrium(5)|kidney(1)|lung(10)|ovary(1)|prostate(3)|skin(1)|upper_aerodigestive_tract(2)	26						c.(1663-1665)tcG>tcT	Genes defective in diseases associated with sensitivity to DNA damaging agents	RecQ protein-like 4							46.0	49.0	48.0					8																	145739865		2071	4200	6271	SO:0001819	synonymous_variant	9401	Rothmund-Thomson syndrome;RAPADILINO syndrome;Baller-Gerold syndrome	Familial Cancer Database	RTS, Poikiloderma Atrophicans and Cataract, Congenital Poikiloderma; ;Craniosynostosis with Radial Defects	DNA duplex unwinding|DNA recombination|DNA repair	cytoplasm|nucleus	ATP binding|ATP-dependent 3'-5' DNA helicase activity|bubble DNA binding|DNA strand annealing activity|zinc ion binding	g.chr8:145739865C>A	AB006532	CCDS75804.1	8q24.3	2014-09-17	2014-03-07	2014-03-07		ENSG00000160957			9949	protein-coding gene	gene with protein product		603780				9878247, 15960976	Standard	NM_004260		Approved	RecQ4	uc003zdj.3	O94761		ENST00000428558.2:c.1665G>T	8.37:g.145739865C>A						RECQL4_ENST00000532237.1_5'UTR	p.S555S	NM_004260.3	NP_004251.3	O94761	RECQ4_HUMAN	OV - Ovarian serous cystadenocarcinoma(54;1.48e-41)|Epithelial(56;1.85e-40)|all cancers(56;3.59e-35)|BRCA - Breast invasive adenocarcinoma(115;0.0483)|Colorectal(110;0.055)		10	1706	-	all_cancers(97;5.56e-11)|all_epithelial(106;3.54e-10)|Lung NSC(106;5.7e-05)|all_lung(105;0.000174)|Ovarian(258;0.0173)|Acute lymphoblastic leukemia(118;0.155)		555			Helicase ATP-binding.		Q3Y424|Q96DW2|Q96F55	Silent	SNP	ENST00000428558.2	37	c.1665G>T																																																																																					0.667	RECQL4-201	KNOWN	basic|appris_principal	protein_coding	protein_coding		NM_004260		11	35	1	0	9.31168e-06	1	9.79002e-06	11	35				
RALGDS	5900	broad.mit.edu	37	9	135985867	135985867	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr9:135985867C>G	ENST00000372050.3	-	3	325	c.304G>C	c.(304-306)Gag>Cag	p.E102Q	RALGDS_ENST00000469972.1_5'Flank|RALGDS_ENST00000542690.1_Missense_Mutation_p.E173Q|RALGDS_ENST00000393157.3_Missense_Mutation_p.E101Q|RALGDS_ENST00000372062.3_Missense_Mutation_p.E85Q|RALGDS_ENST00000372047.3_Missense_Mutation_p.E102Q|RALGDS_ENST00000393160.3_Missense_Mutation_p.E47Q	NM_006266.2	NP_006257.1	Q12967	GNDS_HUMAN	ral guanine nucleotide dissociation stimulator	102					neurotrophin TRK receptor signaling pathway (GO:0048011)|Ras protein signal transduction (GO:0007265)|regulation of catalytic activity (GO:0050790)|regulation of small GTPase mediated signal transduction (GO:0051056)	cytosol (GO:0005829)	guanyl-nucleotide exchange factor activity (GO:0005085)|small GTPase regulator activity (GO:0005083)			endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10				OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)		AGGGCCGACTCATTCTCATAC	0.602			T	CIITA	"""PMBL, Hodgkin Lymphona, """																																Melanoma(189;762 2088 15384 21931 52515)	ENST00000393160.3				Dom	yes		9	9q34.3	5900	T	ral guanine nucleotide dissociation stimulator			L	CIITA		"""PMBL, Hodgkin Lymphona, """		0				endometrium(1)|large_intestine(4)|lung(2)|ovary(1)|upper_aerodigestive_tract(2)	10						c.(139-141)Gag>Cag		ral guanine nucleotide dissociation stimulator							53.0	47.0	49.0					9																	135985867		2202	4300	6502	SO:0001583	missense	5900				nerve growth factor receptor signaling pathway|Ras protein signal transduction|regulation of small GTPase mediated signal transduction	cytosol	Ral guanyl-nucleotide exchange factor activity	g.chr9:135985867C>G	AB037729	CCDS6959.1, CCDS43897.1, CCDS65172.1, CCDS65173.1, CCDS65174.1	9q34.3	2009-04-08			ENSG00000160271	ENSG00000160271			9842	protein-coding gene	gene with protein product		601619				7972015	Standard	NM_006266		Approved	RGF, RalGEF, RGDS	uc004ccr.3	Q12967	OTTHUMG00000020858	ENST00000372050.3:c.304G>C	9.37:g.135985867C>G	ENSP00000361120:p.Glu102Gln					RALGDS_ENST00000542690.1_Missense_Mutation_p.E173Q|RALGDS_ENST00000393157.3_Missense_Mutation_p.E101Q|RALGDS_ENST00000372047.3_Missense_Mutation_p.E102Q|RALGDS_ENST00000372050.3_Missense_Mutation_p.E102Q|RALGDS_ENST00000372062.3_Missense_Mutation_p.E85Q	p.E47Q	NM_001042368.1	NP_001035827.1	Q12967	GNDS_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;3.66e-06)|Epithelial(140;2.77e-05)	3	492	-			102					B7Z753|E7ER93|E7ERZ0|Q5T7V4|Q6KH11|Q6PCE1|Q6ZSD5|Q9HAX7|Q9HAY1|Q9HCT1|Q9P2N8	Missense_Mutation	SNP	ENST00000372050.3	37	c.139G>C	CCDS6959.1	.	.	.	.	.	.	.	.	.	.	C	15.87	2.959967	0.53400	.	.	ENSG00000160271	ENST00000372050;ENST00000372047;ENST00000393160;ENST00000393157;ENST00000542690;ENST00000372062	T;T;T;T;T;T	0.39787	1.54;1.07;1.56;1.54;1.68;1.06	5.1	3.23	0.37069	Ras guanine nucleotide exchange factor, domain (1);	0.364712	0.23545	N	0.047022	T	0.45013	0.1321	L	0.48642	1.525	0.34626	D	0.719092	P;D;D;D;D;D	0.60575	0.715;0.988;0.966;0.966;0.966;0.966	P;P;P;P;P;P	0.53313	0.675;0.723;0.598;0.598;0.598;0.598	T	0.56475	-0.7973	10	0.49607	T	0.09	.	9.1981	0.37240	0.145:0.7789:0.0:0.076	.	173;85;47;101;102;102	F5H6M6;E7ER93;Q6KH11;E7ERZ0;Q6PCE1;Q12967	.;.;.;.;.;GNDS_HUMAN	Q	102;102;47;101;173;85	ENSP00000361120:E102Q;ENSP00000361117:E102Q;ENSP00000376867:E47Q;ENSP00000376864:E101Q;ENSP00000437518:E173Q;ENSP00000361132:E85Q	ENSP00000361117:E102Q	E	-	1	0	RALGDS	134975688	1.000000	0.71417	0.079000	0.20413	0.965000	0.64279	7.367000	0.79558	0.537000	0.28751	0.655000	0.94253	GAG		0.602	RALGDS-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000054837.1	NM_006266		14	39	0	0	0	1	0	14	39				
LRPPRC	10128	broad.mit.edu	37	2	44121770	44121770	+	Splice_Site	SNP	T	T	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:44121770T>C	ENST00000260665.7	-	36	3958		c.e36-2		RNU6-1048P_ENST00000364054.1_RNA	NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN	leucine-rich pentatricopeptide repeat containing						mitochondrion transport along microtubule (GO:0047497)|mRNA transport (GO:0051028)|negative regulation of mitochondrial RNA catabolic process (GO:0000961)|regulation of mitochondrial translation (GO:0070129)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	condensed nuclear chromosome (GO:0000794)|cytoskeleton (GO:0005856)|membrane (GO:0016020)|microtubule (GO:0005874)|mitochondrial nucleoid (GO:0042645)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|ribonucleoprotein complex (GO:0030529)	beta-tubulin binding (GO:0048487)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|single-stranded DNA binding (GO:0003697)			breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)				AGTTGATGCCTAGGAAATTAC	0.274																																						ENST00000260665.7																			0				breast(3)|endometrium(3)|kidney(5)|large_intestine(9)|lung(15)|ovary(2)|prostate(2)|skin(2)	41						c.e36-2		leucine-rich pentatricopeptide repeat containing							57.0	61.0	60.0					2																	44121770		2202	4275	6477	SO:0001630	splice_region_variant	10128				mitochondrion transport along microtubule|mRNA transport|regulation of transcription, DNA-dependent|transcription, DNA-dependent	condensed nuclear chromosome|cytoskeleton|mitochondrial nucleoid|nuclear inner membrane|nuclear outer membrane|nucleoplasm|perinuclear region of cytoplasm	beta-tubulin binding|microtubule binding|RNA binding	g.chr2:44121770T>C	M92439	CCDS33189.1	2p21	2012-02-24	2012-02-24		ENSG00000138095	ENSG00000138095			15714	protein-coding gene	gene with protein product		607544	"""Leigh syndrome, French-Canadian type (cytochrome oxidase deficiency)"""	LSFC		8012652, 8619474, 22045337	Standard	NM_133259		Approved	GP130, LRP130	uc002rtr.2	P42704	OTTHUMG00000152782	ENST00000260665.7:c.3901-2A>G	2.37:g.44121770T>C								NM_133259.3	NP_573566.2	P42704	LPPRC_HUMAN			36	3958	-		all_hematologic(82;0.166)|Acute lymphoblastic leukemia(82;0.17)						A0PJE3|A8K1V1|Q53PC0|Q53QN7|Q6ZUD8|Q7Z7A6|Q96D84	Splice_Site	SNP	ENST00000260665.7	37		CCDS33189.1	.	.	.	.	.	.	.	.	.	.	T	11.48	1.651844	0.29336	.	.	ENSG00000138095	ENST00000260665;ENST00000419884	.	.	.	6.02	6.02	0.97574	.	.	.	.	.	.	.	.	.	.	.	0.80722	D	1	.	.	.	.	.	.	.	.	.	.	.	.	.	.	16.5494	0.84464	0.0:0.0:0.0:1.0	.	.	.	.	.	-1	.	.	.	-	.	.	LRPPRC	43975274	1.000000	0.71417	0.985000	0.45067	0.028000	0.11728	6.120000	0.71596	2.299000	0.77371	0.528000	0.53228	.		0.274	LRPPRC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327823.1	NM_133259	Intron	22	50	0	0	0	1	0	22	50				
PRR21	643905	broad.mit.edu	37	2	240982232	240982232	+	Silent	SNP	G	G	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:240982232G>T	ENST00000408934.1	-	1	167	c.168C>A	c.(166-168)acC>acA	p.T56T		NM_001080835.1	NP_001074304.1	Q8WXC7	PRR21_HUMAN	proline rich 21	56	Pro-rich.									NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(5)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	29						AAGGGCCGTGGGTGAAGAGCC	0.592																																						ENST00000408934.1																			0				NS(1)|breast(1)|haematopoietic_and_lymphoid_tissue(3)|large_intestine(3)|lung(7)|ovary(2)|prostate(5)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)	29						c.(166-168)acC>acA		proline rich 21							131.0	115.0	121.0					2																	240982232		2203	4300	6503	SO:0001819	synonymous_variant	643905							g.chr2:240982232G>T	AF453950	CCDS33417.1	2q37.3	2009-04-20			ENSG00000221961	ENSG00000221961			33866	protein-coding gene	gene with protein product							Standard	NM_001080835		Approved		uc010zod.2	Q8WXC7	OTTHUMG00000159174	ENST00000408934.1:c.168C>A	2.37:g.240982232G>T							p.T56T	NM_001080835.1	NP_001074304.1	Q8WXC7	PRR21_HUMAN			1	167	-			56			Pro-rich.			Silent	SNP	ENST00000408934.1	37	c.168C>A	CCDS33417.1																																																																																				0.592	PRR21-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding		NM_001080835		13	12	1	0	9.31168e-06	1	9.79002e-06	13	12				
KCNAB3	9196	broad.mit.edu	37	17	7831114	7831114	+	Silent	SNP	G	G	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:7831114G>T	ENST00000303790.2	-	2	272	c.273C>A	c.(271-273)tcC>tcA	p.S91S	RP11-1099M24.7_ENST00000573621.1_3'UTR	NM_004732.3	NP_004723.2	O43448	KCAB3_HUMAN	potassium voltage-gated channel, shaker-related subfamily, beta member 3	91					potassium ion transport (GO:0006813)|synaptic transmission (GO:0007268)	cytoplasm (GO:0005737)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	potassium channel regulator activity (GO:0015459)|voltage-gated potassium channel activity (GO:0005249)			breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	8		Prostate(122;0.157)				GGCCAAGACAGGATACCCGAA	0.527																																						ENST00000303790.2																			0				breast(2)|endometrium(2)|large_intestine(1)|lung(1)|ovary(1)|prostate(1)	8						c.(271-273)tcC>tcA		potassium voltage-gated channel, shaker-related subfamily, beta member 3							167.0	166.0	166.0					17																	7831114		2203	4300	6503	SO:0001819	synonymous_variant	9196					cytoplasm|integral to membrane	oxidoreductase activity|potassium channel regulator activity|voltage-gated potassium channel activity	g.chr17:7831114G>T	AF016411	CCDS11124.1	17p13.1	2006-11-29			ENSG00000170049	ENSG00000170049		"""Potassium channels"", ""Aldo-keto reductases"""	6230	protein-coding gene	gene with protein product		604111				9857044	Standard	NM_004732		Approved	AKR6A9, KCNA3B	uc002gjm.2	O43448	OTTHUMG00000108170	ENST00000303790.2:c.273C>A	17.37:g.7831114G>T						RP11-1099M24.7_ENST00000573621.1_3'UTR	p.S91S	NM_004732.3	NP_004723.2	O43448	KCAB3_HUMAN			2	272	-		Prostate(122;0.157)	91					Q4VAW0	Silent	SNP	ENST00000303790.2	37	c.273C>A	CCDS11124.1																																																																																				0.527	KCNAB3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000226974.1	NM_004732		65	189	1	0	3.28615e-30	1	4.09269e-30	65	189				
PDS5A	23244	broad.mit.edu	37	4	39929663	39929663	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr4:39929663C>T	ENST00000303538.8	-	3	799	c.260G>A	c.(259-261)cGt>cAt	p.R87H	PDS5A_ENST00000503396.1_Missense_Mutation_p.R87H	NM_001100399.1	NP_001093869.1			PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)											breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						TACAAGGAGACGCACATCTTT	0.418																																						ENST00000303538.8																			0				breast(2)|cervix(1)|endometrium(4)|kidney(4)|large_intestine(9)|lung(14)|prostate(3)|skin(1)|urinary_tract(1)	39						c.(259-261)cGt>cAt		PDS5, regulator of cohesion maintenance, homolog A (S. cerevisiae)							107.0	99.0	102.0					4																	39929663		1906	4127	6033	SO:0001583	missense	23244				cell division|mitosis|negative regulation of DNA replication	chromatin|nucleus	identical protein binding	g.chr4:39929663C>T	AF294791	CCDS47045.1, CCDS54759.1	4p14	2007-06-20			ENSG00000121892	ENSG00000121892			29088	protein-coding gene	gene with protein product		613200				11076961, 15855230	Standard	NM_001100399		Approved	KIAA0648, PIG54, SCC-112	uc003guv.4	Q29RF7	OTTHUMG00000160582	ENST00000303538.8:c.260G>A	4.37:g.39929663C>T	ENSP00000303427:p.Arg87His					PDS5A_ENST00000503396.1_Missense_Mutation_p.R87H	p.R87H	NM_001100399.1	NP_001093869.1	Q29RF7	PDS5A_HUMAN			3	799	-			87						Missense_Mutation	SNP	ENST00000303538.8	37	c.260G>A	CCDS47045.1	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	.|.	C|C	35|35	5.595362|5.595362	0.96602|0.96602	.|.	.|.	ENSG00000121892|ENSG00000121892	ENST00000303538;ENST00000503396|ENST00000513798	T;T|.	0.76316|.	-0.87;-1.01|.	5.66|5.66	5.66|5.66	0.87406|0.87406	Armadillo-like helical (1);Armadillo-type fold (1);|.	0.000000|.	0.85682|.	D|.	0.000000|.	T|T	0.75642|0.75642	0.3877|0.3877	M|M	0.68952|0.68952	2.095|2.095	0.80722|0.80722	D|D	1|1	D;D|.	0.89917|.	1.0;1.0|.	D;D|.	0.79784|.	0.993;0.993|.	T|T	0.73222|0.73222	-0.4051|-0.4051	9|5	.|.	.|.	.|.	-10.3206|-10.3206	19.7578|19.7578	0.96301|0.96301	0.0:1.0:0.0:0.0|0.0:1.0:0.0:0.0	.|.	87;87|.	Q29RF7-3;Q29RF7|.	.;PDS5A_HUMAN|.	H|I	87|22	ENSP00000303427:R87H;ENSP00000426749:R87H|.	.|.	R|V	-|-	2|1	0|0	PDS5A|PDS5A	39606058|39606058	1.000000|1.000000	0.71417|0.71417	1.000000|1.000000	0.80357|0.80357	0.998000|0.998000	0.95712|0.95712	7.818000|7.818000	0.86416|0.86416	2.657000|2.657000	0.90304|0.90304	0.655000|0.655000	0.94253|0.94253	CGT|GTC		0.418	PDS5A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000361287.1	NM_015200		8	30	0	0	0	1	0	8	30				
GRK5	2869	broad.mit.edu	37	10	121196339	121196339	+	Silent	SNP	G	G	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr10:121196339G>A	ENST00000392870.2	+	9	1244	c.915G>A	c.(913-915)gaG>gaA	p.E305E	GRK5_ENST00000369108.3_Silent_p.E200E	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN	G protein-coupled receptor kinase 5	305	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|apoptotic process (GO:0006915)|negative regulation of apoptotic process (GO:0043066)|protein autophosphorylation (GO:0046777)|regulation of G-protein coupled receptor protein signaling pathway (GO:0008277)|tachykinin receptor signaling pathway (GO:0007217)|termination of G-protein coupled receptor signaling pathway (GO:0038032)|Wnt signaling pathway (GO:0016055)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|G-protein coupled receptor kinase activity (GO:0004703)|phospholipid binding (GO:0005543)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)			endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)		all cancers(201;0.0227)		TCCACCGTGAGAACACCGTCT	0.597																																						ENST00000392870.2																			0				endometrium(2)|large_intestine(5)|lung(15)|skin(3)|stomach(1)|urinary_tract(1)	27						c.(913-915)gaG>gaA		G protein-coupled receptor kinase 5							71.0	60.0	63.0					10																	121196339		2203	4300	6503	SO:0001819	synonymous_variant	2869				G-protein signaling, coupled to cAMP nucleotide second messenger|regulation of G-protein coupled receptor protein signaling pathway|tachykinin receptor signaling pathway	cytoplasm|plasma membrane|soluble fraction	ATP binding|G-protein coupled receptor kinase activity|phospholipid binding|protein kinase C binding|signal transducer activity	g.chr10:121196339G>A	L15388	CCDS7612.1	10q26.11	2013-09-19	2004-02-04	2004-02-06	ENSG00000198873	ENSG00000198873			4544	protein-coding gene	gene with protein product		600870		GPRK5		7685906	Standard	NM_005308		Approved		uc001led.3	P34947	OTTHUMG00000019149	ENST00000392870.2:c.915G>A	10.37:g.121196339G>A						GRK5_ENST00000369108.3_Silent_p.E200E	p.E305E	NM_005308.2	NP_005299.1	P34947	GRK5_HUMAN		all cancers(201;0.0227)	9	1244	+		Lung NSC(174;0.0971)|all_lung(145;0.127)|Ovarian(717;0.249)	305			Protein kinase.		D3DRD0|Q5T059	Silent	SNP	ENST00000392870.2	37	c.915G>A	CCDS7612.1																																																																																				0.597	GRK5-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000050652.2	NM_005308		19	30	0	0	0	1	0	19	30				
PRR14	78994	broad.mit.edu	37	16	30664127	30664127	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr16:30664127C>T	ENST00000542965.2	+	3	734	c.278C>T	c.(277-279)tCg>tTg	p.S93L	PRR14_ENST00000300835.4_Missense_Mutation_p.S93L			Q9BWN1	PRR14_HUMAN	proline rich 14	93	Pro-rich.									breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18			Colorectal(24;0.103)			CCGCCTGCCTCGCCACCCCGG	0.632																																						ENST00000542965.2																			0				breast(3)|endometrium(5)|kidney(1)|large_intestine(3)|lung(5)|skin(1)	18						c.(277-279)tCg>tTg		proline rich 14							29.0	33.0	31.0					16																	30664127		2195	4293	6488	SO:0001583	missense	78994							g.chr16:30664127C>T	AK074783	CCDS10687.1	16p11.2	2008-02-05			ENSG00000156858	ENSG00000156858			28458	protein-coding gene	gene with protein product						12477932	Standard	NM_024031		Approved	MGC3121	uc002dyy.3	Q9BWN1	OTTHUMG00000132414	ENST00000542965.2:c.278C>T	16.37:g.30664127C>T	ENSP00000441641:p.Ser93Leu					PRR14_ENST00000300835.4_Missense_Mutation_p.S93L	p.S93L			Q9BWN1	PRR14_HUMAN	Colorectal(24;0.103)		3	734	+			93			Pro-rich.		Q8WTX2	Missense_Mutation	SNP	ENST00000542965.2	37	c.278C>T	CCDS10687.1	.	.	.	.	.	.	.	.	.	.	C	9.345	1.064061	0.20067	.	.	ENSG00000156858	ENST00000300835;ENST00000542965	T;T	0.45668	0.89;0.89	5.39	-2.08	0.07254	.	1.345210	0.04908	N	0.452697	T	0.33294	0.0858	L	0.38838	1.175	0.09310	N	1	B	0.02656	0.0	B	0.06405	0.002	T	0.34527	-0.9825	10	0.48119	T	0.1	0.2687	9.1717	0.37086	0.0:0.508:0.0:0.492	.	93	Q9BWN1	PRR14_HUMAN	L	93	ENSP00000300835:S93L;ENSP00000441641:S93L	ENSP00000300835:S93L	S	+	2	0	PRR14	30571628	0.001000	0.12720	0.001000	0.08648	0.193000	0.23685	-0.312000	0.08113	-0.570000	0.06022	-0.438000	0.05819	TCG		0.632	PRR14-007	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000434433.1	NM_024031		27	37	0	0	0	1	0	27	37				
CEP192	55125	broad.mit.edu	37	18	13057631	13057631	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr18:13057631G>C	ENST00000325971.8	+	18	3961	c.2368G>C	c.(2368-2370)Gtc>Ctc	p.V790L	CEP192_ENST00000506447.1_Missense_Mutation_p.V1386L|CEP192_ENST00000430049.2_Missense_Mutation_p.V911L			Q8TEP8	CE192_HUMAN	centrosomal protein 192kDa	790					centrosome duplication (GO:0051298)|G2/M transition of mitotic cell cycle (GO:0000086)|mitotic cell cycle (GO:0000278)|negative regulation of phosphatase activity (GO:0010923)|spindle assembly (GO:0051225)	centrosome (GO:0005813)|cytoplasm (GO:0005737)|cytosol (GO:0005829)	phosphatase binding (GO:0019902)			NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						TGCTTGCTGTGTCGGGATCGC	0.512																																						ENST00000506447.1																			0				NS(1)|breast(4)|cervix(1)|endometrium(5)|kidney(2)|large_intestine(12)|lung(36)|ovary(4)|pancreas(1)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	71						c.(4156-4158)Gtc>Ctc		centrosomal protein 192kDa							166.0	133.0	144.0					18																	13057631		2203	4300	6503	SO:0001583	missense	55125							g.chr18:13057631G>C	AK074074	CCDS32792.1, CCDS32792.2	18p11.21	2014-02-20				ENSG00000101639		"""Serine/threonine phosphatases / Protein phosphatase 1, regulatory subunits"""	25515	protein-coding gene	gene with protein product	"""protein phosphatase 1, regulatory subunit 62"""					11230166, 14654843	Standard	NM_032142		Approved	KIAA1569, FLJ10352, PPP1R62	uc010xac.2	Q8TEP8		ENST00000325971.8:c.2368G>C	18.37:g.13057631G>C	ENSP00000317156:p.Val790Leu					CEP192_ENST00000325971.8_Missense_Mutation_p.V790L|CEP192_ENST00000430049.2_Missense_Mutation_p.V911L	p.V1386L	NM_032142.3	NP_115518.3	B7ZMF0	B7ZMF0_HUMAN			20	4236	+			981					A0A060A9S4|E9PF99|Q8WYT8|Q9H0F4|Q9NW27	Missense_Mutation	SNP	ENST00000325971.8	37	c.4156G>C		.	.	.	.	.	.	.	.	.	.	G	17.75	3.467335	0.63625	.	.	ENSG00000101639	ENST00000506447;ENST00000325971;ENST00000399863;ENST00000430049	T;T;T	0.15017	2.46;2.49;2.52	5.53	3.73	0.42828	.	0.119016	0.37304	N	0.002144	T	0.32164	0.0820	M	0.70275	2.135	0.45415	D	0.998392	P;D;D	0.67145	0.944;0.976;0.996	B;P;P	0.54924	0.415;0.741;0.764	T	0.07635	-1.0762	10	0.72032	D	0.01	-10.5192	12.2914	0.54820	0.1388:0.0:0.8612:0.0	.	911;1386;790	C9JT09;E9PF99;Q8TEP8	.;.;CE192_HUMAN	L	1386;790;790;911	ENSP00000427550:V1386L;ENSP00000317156:V790L;ENSP00000389190:V911L	ENSP00000317156:V790L	V	+	1	0	CEP192	13047631	1.000000	0.71417	0.949000	0.38748	0.153000	0.21895	3.286000	0.51724	0.686000	0.31488	0.650000	0.86243	GTC		0.512	CEP192-201	KNOWN	basic	protein_coding	protein_coding		NM_032142		17	44	0	0	0	1	0	17	44				
CNTNAP2	26047	broad.mit.edu	37	7	147600793	147600793	+	Silent	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:147600793C>T	ENST00000361727.3	+	14	2751	c.2235C>T	c.(2233-2235)tgC>tgT	p.C745C		NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	contactin associated protein-like 2	745	Fibrinogen C-terminal. {ECO:0000255|PROSITE-ProRule:PRU00739}.				adult behavior (GO:0030534)|brain development (GO:0007420)|cell adhesion (GO:0007155)|cellular protein localization (GO:0034613)|cerebral cortex development (GO:0021987)|clustering of voltage-gated potassium channels (GO:0045163)|learning (GO:0007612)|limbic system development (GO:0021761)|neuron projection development (GO:0031175)|neuron recognition (GO:0008038)|protein localization to juxtaparanode region of axon (GO:0071205)|social behavior (GO:0035176)|striatum development (GO:0021756)|superior temporal gyrus development (GO:0071109)|thalamus development (GO:0021794)|transmission of nerve impulse (GO:0019226)|vocalization behavior (GO:0071625)	axolemma (GO:0030673)|axon (GO:0030424)|cell surface (GO:0009986)|dendrite (GO:0030425)|early endosome (GO:0005769)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|juxtaparanode region of axon (GO:0044224)|membrane (GO:0016020)|neuronal cell body (GO:0043025)|perikaryon (GO:0043204)|voltage-gated potassium channel complex (GO:0008076)	enzyme binding (GO:0019899)	p.C745C(2)		NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	OV - Ovarian serous cystadenocarcinoma(82;0.0319)			ACTGTAACTGCGACGCGGACT	0.542										HNSCC(39;0.1)																												ENST00000361727.3																			2	Substitution - coding silent(2)	p.C745C(2)	large_intestine(1)|endometrium(1)	NS(3)|breast(2)|central_nervous_system(3)|cervix(1)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(21)|lung(105)|ovary(9)|pancreas(2)|prostate(5)|skin(7)|stomach(3)|upper_aerodigestive_tract(6)|urinary_tract(3)	188						c.(2233-2235)tgC>tgT		contactin associated protein-like 2							63.0	52.0	56.0					7																	147600793		2203	4300	6503	SO:0001819	synonymous_variant	26047				behavior|cell adhesion|clustering of voltage-gated potassium channels|limbic system development|neuron recognition|signal transduction|striatum development|superior temporal gyrus development|thalamus development|transmission of nerve impulse	axolemma|cell body fiber|dendrite|juxtaparanode region of axon|voltage-gated potassium channel complex	receptor binding	g.chr7:147600793C>T	AF193613	CCDS5889.1	7q35	2008-02-04			ENSG00000174469	ENSG00000174469			13830	protein-coding gene	gene with protein product		604569				10624965, 10048485	Standard	NM_014141		Approved	Caspr2, KIAA0868, NRXN4	uc003weu.2	Q9UHC6	OTTHUMG00000152743	ENST00000361727.3:c.2235C>T	7.37:g.147600793C>T		HNSCC(39;0.1)					p.C745C	NM_014141.5	NP_054860.1	Q9UHC6	CNTP2_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0319)		14	2751	+	Melanoma(164;0.153)	all_cancers(3;3.51e-10)|all_epithelial(3;1.4e-05)|Myeloproliferative disorder(3;0.00452)|Lung NSC(3;0.0067)|all_lung(3;0.00794)	745			Fibrinogen C-terminal.		D3DWG2|Q14DG2|Q52LV1|Q5H9Q7|Q9UQ12	Silent	SNP	ENST00000361727.3	37	c.2235C>T	CCDS5889.1																																																																																				0.542	CNTNAP2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000327668.1			7	9	0	0	0	1	0	7	9				
RFWD3	55159	broad.mit.edu	37	16	74685845	74685845	+	Missense_Mutation	SNP	C	C	G			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr16:74685845C>G	ENST00000361070.4	-	3	791	c.694G>C	c.(694-696)Gag>Cag	p.E232Q	RFWD3_ENST00000571750.1_Missense_Mutation_p.E232Q	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN	ring finger and WD repeat domain 3	232					DNA repair (GO:0006281)|mitotic G1 DNA damage checkpoint (GO:0031571)|protein ubiquitination (GO:0016567)|regulation of DNA damage checkpoint (GO:2000001)|response to ionizing radiation (GO:0010212)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	ligase activity (GO:0016874)|MDM2/MDM4 family protein binding (GO:0097371)|p53 binding (GO:0002039)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						CCAGATTCCTCTGCCTGGTCA	0.448																																						ENST00000361070.4																			0				NS(1)|breast(1)|endometrium(3)|kidney(1)|large_intestine(3)|lung(12)|ovary(1)|skin(2)|stomach(1)|urinary_tract(1)	26						c.(694-696)Gag>Cag		ring finger and WD repeat domain 3							124.0	121.0	122.0					16																	74685845		2198	4300	6498	SO:0001583	missense	55159				DNA repair|mitotic cell cycle G1/S transition DNA damage checkpoint|response to ionizing radiation	nucleus	MDM2 binding|p53 binding|ubiquitin-protein ligase activity|zinc ion binding	g.chr16:74685845C>G	AK001382	CCDS32486.1	16q22.3	2013-01-09						"""WD repeat domain containing"", ""RING-type (C3HC4) zinc fingers"""	25539	protein-coding gene	gene with protein product		614151				21504906	Standard	XM_005256021		Approved	FLJ10520, RNF201	uc002fda.3	Q6PCD5		ENST00000361070.4:c.694G>C	16.37:g.74685845C>G	ENSP00000354361:p.Glu232Gln					RFWD3_ENST00000571750.1_Missense_Mutation_p.E232Q	p.E232Q	NM_018124.3	NP_060594.3	Q6PCD5	RFWD3_HUMAN			3	791	-			232					A8K585|B2RE35|D3DUJ8|Q5XKR3|Q9H9Q3|Q9NVT4	Missense_Mutation	SNP	ENST00000361070.4	37	c.694G>C	CCDS32486.1	.	.	.	.	.	.	.	.	.	.	C	10.63	1.403678	0.25291	.	.	ENSG00000168411	ENST00000361070	T	0.19394	2.15	6.04	3.98	0.46160	.	0.611992	0.15425	N	0.263031	T	0.24353	0.0590	M	0.62723	1.935	0.09310	N	0.999998	P	0.37955	0.612	B	0.37943	0.261	T	0.12630	-1.0540	10	0.15952	T	0.53	-17.7574	15.7564	0.78030	0.0:0.7427:0.2572:0.0	.	232	Q6PCD5	RFWD3_HUMAN	Q	232	ENSP00000354361:E232Q	ENSP00000354361:E232Q	E	-	1	0	RFWD3	73243346	0.557000	0.26546	0.375000	0.26029	0.115000	0.19883	2.998000	0.49465	1.564000	0.49628	0.650000	0.86243	GAG		0.448	RFWD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000436506.2	NM_018124		31	124	0	0	0	1	0	31	124				
FAM129A	116496	broad.mit.edu	37	1	184787912	184787912	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:184787912G>T	ENST00000367511.3	-	9	1226	c.1033C>A	c.(1033-1035)Cca>Aca	p.P345T	RNU7-13P_ENST00000516413.1_RNA|FAM129A_ENST00000487074.1_5'UTR	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN	family with sequence similarity 129, member A	345					negative regulation of protein phosphorylation (GO:0001933)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of translation (GO:0045727)|response to endoplasmic reticulum stress (GO:0034976)	cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						GCCAGGAATGGCTGCACACTC	0.522																																						ENST00000367511.3																			0				autonomic_ganglia(1)|breast(1)|cervix(2)|endometrium(4)|large_intestine(6)|liver(1)|lung(22)|ovary(3)|skin(3)|upper_aerodigestive_tract(2)	45						c.(1033-1035)Cca>Aca		family with sequence similarity 129, member A							147.0	147.0	147.0					1																	184787912		2203	4300	6503	SO:0001583	missense	116496				negative regulation of protein phosphorylation|positive regulation of protein phosphorylation|positive regulation of translation|response to endoplasmic reticulum stress	cytoplasm|nucleus|plasma membrane		g.chr1:184787912G>T	AF288391	CCDS1364.1	1q25	2008-10-08	2006-11-23	2006-11-23	ENSG00000135842	ENSG00000135842			16784	protein-coding gene	gene with protein product	"""cell growth inhibiting protein 39"""		"""chromosome 1 open reading frame 24"""	C1orf24		15085203, 16444351	Standard	NM_052966		Approved	NIBAN, GIG39	uc001gra.4	Q9BZQ8	OTTHUMG00000035388	ENST00000367511.3:c.1033C>A	1.37:g.184787912G>T	ENSP00000356481:p.Pro345Thr					FAM129A_ENST00000487074.1_5'UTR	p.P345T	NM_052966.2	NP_443198.1	Q9BZQ8	NIBAN_HUMAN			9	1226	-			345					Q2TTR2|Q5TEM8|Q8TEI5|Q9H593|Q9H9Y8|Q9HCB9	Missense_Mutation	SNP	ENST00000367511.3	37	c.1033C>A	CCDS1364.1	.	.	.	.	.	.	.	.	.	.	G	17.51	3.407073	0.62399	.	.	ENSG00000135842	ENST00000367511	T	0.16073	2.37	5.05	5.05	0.67936	.	0.000000	0.85682	D	0.000000	T	0.44953	0.1318	M	0.77313	2.365	0.58432	D	0.999994	D	0.89917	1.0	D	0.91635	0.999	T	0.46317	-0.9200	10	0.87932	D	0	-13.734	16.9649	0.86283	0.0:0.0:1.0:0.0	.	345	Q9BZQ8	NIBAN_HUMAN	T	345	ENSP00000356481:P345T	ENSP00000356481:P345T	P	-	1	0	FAM129A	183054535	1.000000	0.71417	0.975000	0.42487	0.277000	0.26821	8.332000	0.90024	2.495000	0.84180	0.557000	0.71058	CCA		0.522	FAM129A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000085786.1			28	222	1	0	7.68411e-24	1	9.3985e-24	28	222				
DOK3	79930	broad.mit.edu	37	5	176936826	176936826	+	Missense_Mutation	SNP	C	C	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr5:176936826C>T	ENST00000357198.4	-	1	32	c.28G>A	c.(28-30)Gac>Aac	p.D10N	DOK3_ENST00000501403.2_Intron|DOK3_ENST00000312943.6_Intron|DOK3_ENST00000377112.4_Intron	NM_024872.2	NP_079148.2	Q7L591	DOK3_HUMAN	docking protein 3	10					Ras protein signal transduction (GO:0007265)	cytoplasm (GO:0005737)|plasma membrane (GO:0005886)				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|lung(7)	13	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)			GCACGCGCGTCTGATCGCAGT	0.711																																						ENST00000357198.4																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|lung(7)	13						c.(28-30)Gac>Aac		docking protein 3							51.0	51.0	51.0					5																	176936826		2202	4300	6502	SO:0001583	missense	79930					cytoplasm|plasma membrane	insulin receptor binding	g.chr5:176936826C>T	AK026223	CCDS4426.1, CCDS47349.1, CCDS47350.1	5q35	2008-02-05			ENSG00000146094	ENSG00000146094			24583	protein-coding gene	gene with protein product		611435				10733577, 12595900	Standard	NM_024872		Approved	FLJ22570	uc003mhk.3	Q7L591	OTTHUMG00000130850	ENST00000357198.4:c.28G>A	5.37:g.176936826C>T	ENSP00000349727:p.Asp10Asn					DOK3_ENST00000312943.6_Intron|DOK3_ENST00000377112.4_Intron|DOK3_ENST00000501403.2_Intron	p.D10N	NM_024872.2	NP_079148.2	Q7L591	DOK3_HUMAN	Kidney(164;2.23e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000178)|Epithelial(233;0.191)		1	32	-	all_cancers(89;0.00033)|Renal(175;0.000269)|Lung NSC(126;0.00161)|all_lung(126;0.00286)	all_neural(177;0.00802)|Medulloblastoma(196;0.0145)|all_hematologic(541;0.248)	10					E9PAT0|H7BXS0|Q8N864|Q9BQB3|Q9H666	Missense_Mutation	SNP	ENST00000357198.4	37	c.28G>A	CCDS4426.1	.	.	.	.	.	.	.	.	.	.	C	15.29	2.790005	0.50102	.	.	ENSG00000146094	ENST00000357198	T	0.21031	2.03	3.22	3.22	0.36961	.	642.914000	0.00465	U	0.000111	T	0.14270	0.0345	N	0.08118	0	0.41804	D	0.989931	P	0.37781	0.608	B	0.34824	0.19	T	0.27365	-1.0076	10	0.87932	D	0	-15.176	10.199	0.43071	0.0:1.0:0.0:0.0	.	10	Q7L591	DOK3_HUMAN	N	10	ENSP00000349727:D10N	ENSP00000349727:D10N	D	-	1	0	DOK3	176869432	.	.	0.101000	0.21167	0.011000	0.07611	.	.	2.099000	0.63709	0.491000	0.48974	GAC		0.711	DOK3-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000253420.4	NM_024872		11	45	0	0	0	1	0	11	45				
ATP8B4	79895	broad.mit.edu	37	15	50226346	50226346	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr15:50226346G>C	ENST00000284509.6	-	15	1462	c.1321C>G	c.(1321-1323)Caa>Gaa	p.Q441E	ATP8B4_ENST00000559829.1_Missense_Mutation_p.Q441E	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN	ATPase, class I, type 8B, member 4	441						Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|magnesium ion binding (GO:0000287)|phospholipid-translocating ATPase activity (GO:0004012)			breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73		all_lung(180;0.00183)		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)		CTATCCGCTTGAGATTTGACT	0.358																																						ENST00000284509.6																			0				breast(6)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(6)|large_intestine(14)|lung(27)|ovary(2)|pancreas(1)|prostate(1)|skin(7)|urinary_tract(1)	73						c.(1321-1323)Caa>Gaa		ATPase, class I, type 8B, member 4							97.0	99.0	98.0					15																	50226346		2196	4295	6491	SO:0001583	missense	79895				ATP biosynthetic process	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|magnesium ion binding|phospholipid-translocating ATPase activity	g.chr15:50226346G>C	AB075819	CCDS32238.1	15q21.2	2010-04-20	2007-09-19		ENSG00000104043	ENSG00000104043		"""ATPases / P-type"""	13536	protein-coding gene	gene with protein product		609123	"""ATPase, Class I, type 8B, member 4"""			11015572	Standard	NM_024837		Approved	ATPIM, KIAA1939	uc001zxu.3	Q8TF62		ENST00000284509.6:c.1321C>G	15.37:g.50226346G>C	ENSP00000284509:p.Gln441Glu					ATP8B4_ENST00000559829.1_Missense_Mutation_p.Q441E	p.Q441E	NM_024837.2	NP_079113.2	Q8TF62	AT8B4_HUMAN		all cancers(107;2.41e-07)|GBM - Glioblastoma multiforme(94;8.28e-05)	15	1462	-		all_lung(180;0.00183)	441					Q9H727	Missense_Mutation	SNP	ENST00000284509.6	37	c.1321C>G	CCDS32238.1	.	.	.	.	.	.	.	.	.	.	G	7.378	0.628186	0.14257	.	.	ENSG00000104043	ENST00000284509	T	0.62105	0.05	5.81	4.88	0.63580	ATPase, cation-transporting, domain N (1);HAD-like domain (1);	0.497735	0.20335	N	0.094352	T	0.43122	0.1233	N	0.16166	0.38	0.09310	N	1	B	0.23990	0.095	B	0.29440	0.102	T	0.29366	-1.0014	10	0.30854	T	0.27	.	7.2781	0.26296	0.0849:0.0:0.7387:0.1763	.	441	Q8TF62	AT8B4_HUMAN	E	441	ENSP00000284509:Q441E	ENSP00000284509:Q441E	Q	-	1	0	ATP8B4	48013638	1.000000	0.71417	0.004000	0.12327	0.276000	0.26787	4.302000	0.59092	1.402000	0.46780	0.591000	0.81541	CAA		0.358	ATP8B4-201	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000418100.1	NM_024837		15	35	0	0	0	1	0	15	35				
CASQ1	844	broad.mit.edu	37	1	160160588	160160588	+	Missense_Mutation	SNP	G	G	A	rs557844880		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:160160588G>A	ENST00000368078.3	+	1	243	c.47G>A	c.(46-48)cGg>cAg	p.R16Q	CASQ1_ENST00000368079.3_Missense_Mutation_p.R10Q			P31415	CASQ1_HUMAN	calsequestrin 1 (fast-twitch, skeletal muscle)	16	Poly-Leu.				endoplasmic reticulum organization (GO:0007029)|ion transmembrane transport (GO:0034220)|protein polymerization (GO:0051258)|regulation of sequestering of calcium ion (GO:0051282)|regulation of skeletal muscle contraction by regulation of release of sequestered calcium ion (GO:0014809)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to heat (GO:0009408)|response to organic substance (GO:0010033)|sarcomere organization (GO:0045214)|skeletal muscle tissue development (GO:0007519)|transmembrane transport (GO:0055085)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|I band (GO:0031674)|mitochondrial matrix (GO:0005759)|mitochondrion (GO:0005739)|sarcoplasmic reticulum (GO:0016529)|sarcoplasmic reticulum lumen (GO:0033018)|sarcoplasmic reticulum membrane (GO:0033017)|smooth endoplasmic reticulum (GO:0005790)|T-tubule (GO:0030315)|terminal cisterna lumen (GO:0014804)	calcium ion binding (GO:0005509)			breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		BRCA - Breast invasive adenocarcinoma(70;0.111)			CCGGGTCTGCGGCTGGCACTG	0.617													G|||	1	0.000199681	0.0	0.0	5008	,	,		17403	0.0		0.0	False		,,,				2504	0.001					ENST00000368079.3																			0				breast(1)|central_nervous_system(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(6)|lung(9)|ovary(1)|skin(1)	21						c.(28-30)cGg>cAg		calsequestrin 1 (fast-twitch, skeletal muscle)							65.0	58.0	61.0					1																	160160588		2203	4300	6503	SO:0001583	missense	844					mitochondrial matrix|sarcoplasmic reticulum lumen|smooth endoplasmic reticulum	calcium ion binding	g.chr1:160160588G>A	S73775	CCDS1198.1, CCDS1198.2	1q21	2011-10-19			ENSG00000143318	ENSG00000143318		"""Protein disulfide isomerases"""	1512	protein-coding gene	gene with protein product	"""calsequestrin 1, fast-twitch, skeletal muscle"", ""calmitine"""	114250		CASQ		8406504, 2321095	Standard	NM_001231		Approved	PDIB1	uc010pja.2	P31415	OTTHUMG00000031607	ENST00000368078.3:c.47G>A	1.37:g.160160588G>A	ENSP00000357057:p.Arg16Gln					CASQ1_ENST00000368078.3_Missense_Mutation_p.R16Q	p.R10Q	NM_001231.4	NP_001222.3	P31415	CASQ1_HUMAN	BRCA - Breast invasive adenocarcinoma(70;0.111)		1	304	+	all_cancers(52;2.56e-18)|all_hematologic(112;0.093)		16					B1AKZ2|B2R863|Q8TBW7	Missense_Mutation	SNP	ENST00000368078.3	37	c.29G>A	CCDS1198.2	.	.	.	.	.	.	.	.	.	.	G	13.37	2.216476	0.39201	.	.	ENSG00000143318	ENST00000368079;ENST00000368078	T;T	0.73897	-0.79;-0.79	3.77	1.83	0.25207	.	0.626027	0.15356	N	0.266654	T	0.26629	0.0651	N	0.08118	0	0.23791	N	0.996832	B	0.02656	0.0	B	0.01281	0.0	T	0.27226	-1.0080	10	0.19590	T	0.45	.	6.9566	0.24574	0.0998:0.3367:0.5635:0.0	.	16	P31415	CASQ1_HUMAN	Q	10;16	ENSP00000357058:R10Q;ENSP00000357057:R16Q	ENSP00000357057:R16Q	R	+	2	0	CASQ1	158427212	1.000000	0.71417	0.990000	0.47175	0.564000	0.35744	1.897000	0.39799	0.276000	0.22118	0.449000	0.29647	CGG		0.617	CASQ1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000077412.1	NM_001231		7	56	0	0	0	1	0	7	56				
ZNF608	57507	broad.mit.edu	37	5	123982862	123982862	+	Missense_Mutation	SNP	G	G	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr5:123982862G>T	ENST00000306315.5	-	4	3650	c.3215C>A	c.(3214-3216)cCt>cAt	p.P1072H	ZNF608_ENST00000504926.1_Missense_Mutation_p.P645H|ZNF608_ENST00000513985.1_5'Flank	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	zinc finger protein 608	1072							metal ion binding (GO:0046872)			breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46		all_cancers(142;0.186)|Prostate(80;0.081)	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)		AGCCAGGGCAGGATGTCTTTG	0.478																																						ENST00000306315.5																			0				breast(4)|endometrium(4)|haematopoietic_and_lymphoid_tissue(2)|kidney(6)|large_intestine(8)|lung(12)|ovary(3)|skin(6)|urinary_tract(1)	46						c.(3214-3216)cCt>cAt		zinc finger protein 608							80.0	74.0	76.0					5																	123982862		2203	4300	6503	SO:0001583	missense	57507					intracellular	zinc ion binding	g.chr5:123982862G>T	AB033107	CCDS34219.1	5q23.2	2008-05-02			ENSG00000168916	ENSG00000168916		"""Zinc fingers, C2H2-type"""	29238	protein-coding gene	gene with protein product						10574462, 10508479	Standard	NM_020747		Approved	KIAA1281, DKFZp434M098, NY-REN-36	uc003ktq.1	Q9ULD9	OTTHUMG00000162999	ENST00000306315.5:c.3215C>A	5.37:g.123982862G>T	ENSP00000307746:p.Pro1072His					ZNF608_ENST00000504926.1_Missense_Mutation_p.P645H	p.P1072H	NM_020747.2	NP_065798.2	Q9ULD9	ZN608_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.159)|Kidney(363;0.221)	OV - Ovarian serous cystadenocarcinoma(64;0.00126)|Epithelial(69;0.00238)|all cancers(49;0.00783)	4	3650	-		all_cancers(142;0.186)|Prostate(80;0.081)	1072					A7E2W9|Q3SYM6|Q68D12|Q8IY05|Q9Y5A1	Missense_Mutation	SNP	ENST00000306315.5	37	c.3215C>A	CCDS34219.1	.	.	.	.	.	.	.	.	.	.	G	18.49	3.636285	0.67130	.	.	ENSG00000168916	ENST00000504926;ENST00000306315	T;T	0.45276	0.9;0.9	5.57	5.57	0.84162	.	0.052109	0.85682	D	0.000000	T	0.62024	0.2394	L	0.54323	1.7	0.80722	D	1	D	0.89917	1.0	D	0.70935	0.971	T	0.61008	-0.7149	10	0.59425	D	0.04	-15.384	19.9049	0.97002	0.0:0.0:1.0:0.0	.	1072	Q9ULD9	ZN608_HUMAN	H	645;1072	ENSP00000427657:P645H;ENSP00000307746:P1072H	ENSP00000307746:P1072H	P	-	2	0	ZNF608	124010761	1.000000	0.71417	0.972000	0.41901	0.908000	0.53690	5.567000	0.67378	2.773000	0.95371	0.643000	0.83706	CCT		0.478	ZNF608-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000371300.1	XM_114432		20	36	1	0	1.55795e-14	1	1.788e-14	20	36				
CNOT11	55571	broad.mit.edu	37	2	101874386	101874386	+	Silent	SNP	G	G	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:101874386G>T	ENST00000289382.3	+	2	811	c.648G>T	c.(646-648)gtG>gtT	p.V216V		NM_017546.4	NP_060016.3	Q9UKZ1	CNO11_HUMAN	CCR4-NOT transcription complex, subunit 11	216					cell proliferation (GO:0008283)|gene expression (GO:0010467)|gene silencing by RNA (GO:0031047)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of transcription, DNA-templated (GO:0006355)|regulation of translation (GO:0006417)|RNA metabolic process (GO:0016070)|transcription, DNA-templated (GO:0006351)	CCR4-NOT complex (GO:0030014)|cytosol (GO:0005829)|nucleus (GO:0005634)											GCCAGTCTGTGGACATTAGTG	0.502																																						ENST00000289382.3																			0											c.(646-648)gtG>gtT		CCR4-NOT transcription complex, subunit 11							114.0	89.0	97.0					2																	101874386		2203	4300	6503	SO:0001819	synonymous_variant	55571							g.chr2:101874386G>T	AF103798	CCDS2050.1	2q12.1	2013-01-24	2013-01-24	2013-01-24	ENSG00000158435	ENSG00000158435			25217	protein-coding gene	gene with protein product			"""chromosome 2 open reading frame 29"""	C2orf29		10497265, 23232451, 23303381	Standard	NM_017546		Approved	C40	uc002taw.4	Q9UKZ1	OTTHUMG00000130686	ENST00000289382.3:c.648G>T	2.37:g.101874386G>T							p.V216V	NM_017546.4	NP_060016.3					2	811	+								Q6P2M9|Q8N681	Silent	SNP	ENST00000289382.3	37	c.648G>T	CCDS2050.1																																																																																				0.502	CNOT11-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253181.1	NM_017546		38	69	1	0	1.96642e-18	1	2.34899e-18	38	69				
EIF4A3	9775	broad.mit.edu	37	17	78115168	78115168	+	Missense_Mutation	SNP	G	G	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:78115168G>C	ENST00000269349.3	-	4	543	c.322C>G	c.(322-324)Caa>Gaa	p.Q108E		NM_014740.3	NP_055555.1	P38919	IF4A3_HUMAN	eukaryotic translation initiation factor 4A3	108	Helicase ATP-binding. {ECO:0000255|PROSITE-ProRule:PRU00541}.				ATP catabolic process (GO:0006200)|cytokine-mediated signaling pathway (GO:0019221)|embryonic cranial skeleton morphogenesis (GO:0048701)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|mRNA splicing, via spliceosome (GO:0000398)|mRNA transport (GO:0051028)|negative regulation of translation (GO:0017148)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|positive regulation of translation (GO:0045727)|RNA metabolic process (GO:0016070)|rRNA processing (GO:0006364)	catalytic step 2 spliceosome (GO:0071013)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|exon-exon junction complex (GO:0035145)|membrane (GO:0016020)|nucleus (GO:0005634)	ATP binding (GO:0005524)|ATP-dependent RNA helicase activity (GO:0004004)|mRNA binding (GO:0003729)|poly(A) binding (GO:0008143)|poly(A) RNA binding (GO:0044822)			endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10	all_neural(118;0.117)		OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)			ATCAAAGCTTGAGTTTCACGA	0.398																																						ENST00000269349.3																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(3)|ovary(1)|upper_aerodigestive_tract(1)|urinary_tract(2)	10						c.(322-324)Caa>Gaa		eukaryotic translation initiation factor 4A3							110.0	103.0	106.0					17																	78115168		2203	4300	6503	SO:0001583	missense	9775				mRNA transport|negative regulation of translation|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|positive regulation of translation|rRNA processing	catalytic step 2 spliceosome|cytoplasm|exon-exon junction complex|nuclear speck	ATP binding|ATP-dependent RNA helicase activity|poly(A) RNA binding|protein binding	g.chr17:78115168G>C	BC004386	CCDS11767.1	17q25.3	2010-02-10	2010-02-10	2006-11-27		ENSG00000141543		"""DEAD-boxes"""	18683	protein-coding gene	gene with protein product		608546	"""DEAD (Asp-Glu-Ala-Asp) box polypeptide 48"", ""eukaryotic translation initiation factor 4A, isoform 3"""	DDX48		10623621, 14730019	Standard	NM_014740		Approved	KIAA0111, EIF4AIII	uc002jxs.3	P38919		ENST00000269349.3:c.322C>G	17.37:g.78115168G>C	ENSP00000269349:p.Gln108Glu						p.Q108E	NM_014740.3	NP_055555.1	P38919	IF4A3_HUMAN	OV - Ovarian serous cystadenocarcinoma(97;0.0292)|BRCA - Breast invasive adenocarcinoma(99;0.139)		4	543	-	all_neural(118;0.117)		108			Helicase ATP-binding.		Q15033|Q6IBQ2|Q96A18	Missense_Mutation	SNP	ENST00000269349.3	37	c.322C>G	CCDS11767.1	.	.	.	.	.	.	.	.	.	.	g	23.9	4.476155	0.84640	.	.	ENSG00000141543	ENST00000269349	T	0.15603	2.41	5.05	5.05	0.67936	DEAD-like helicase (2);DNA/RNA helicase, DEAD/DEAH box type, N-terminal (1);	0.000000	0.85682	D	0.000000	T	0.44519	0.1297	M	0.79258	2.445	0.80722	D	1	D	0.89917	1.0	D	0.87578	0.998	T	0.44697	-0.9311	10	0.87932	D	0	.	16.259	0.82532	0.0:0.0:1.0:0.0	.	108	P38919	IF4A3_HUMAN	E	108	ENSP00000269349:Q108E	ENSP00000269349:Q108E	Q	-	1	0	EIF4A3	75729763	1.000000	0.71417	0.992000	0.48379	0.926000	0.56050	7.168000	0.77570	2.507000	0.84556	0.655000	0.94253	CAA		0.398	EIF4A3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000437446.1	NM_014740		26	70	0	0	0	1	0	26	70				
AHDC1	27245	broad.mit.edu	37	1	27876869	27876869	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:27876869delT	ENST00000247087.5	-	5	2354	c.1758delA	c.(1756-1758)aaafs	p.K586fs	AHDC1_ENST00000374011.2_Frame_Shift_Del_p.K586fs			Q5TGY3	AHDC1_HUMAN	AT hook, DNA binding motif, containing 1	586							DNA binding (GO:0003677)	p.K586fs*37(1)		breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)		GCCGCCGTCGTTTTTTTACCT	0.647																																						ENST00000374011.2																			1	Deletion - Frameshift(1)	p.K586fs*37(1)	large_intestine(1)	breast(1)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(3)|large_intestine(8)|lung(20)|prostate(1)|skin(3)|upper_aerodigestive_tract(2)	42						c.(1756-1758)aafs		AT hook, DNA binding motif, containing 1							64.0	62.0	63.0					1																	27876869		2203	4300	6503	SO:0001589	frameshift_variant	27245						DNA binding	g.chr1:27876869delT	AK125431	CCDS30652.1	1p36.13	2008-02-05			ENSG00000126705	ENSG00000126705			25230	protein-coding gene	gene with protein product		615790				8619474, 9110174	Standard	XM_005245848		Approved	DJ159A19.3, RP1-159A19.1	uc009vsy.3	Q5TGY3	OTTHUMG00000003398	ENST00000247087.5:c.1758delA	1.37:g.27876869delT	ENSP00000247087:p.Lys586fs					AHDC1_ENST00000482400.2_Intron|AHDC1_ENST00000247087.5_Frame_Shift_Del_p.K586fs	p.K586fs	NM_001029882.2	NP_001025053.1	Q5TGY3	AHDC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (279;0.0434)|OV - Ovarian serous cystadenocarcinoma(117;8.48e-25)|Colorectal(126;9.17e-09)|COAD - Colon adenocarcinoma(152;1.84e-06)|KIRC - Kidney renal clear cell carcinoma(1967;0.00192)|BRCA - Breast invasive adenocarcinoma(304;0.00259)|STAD - Stomach adenocarcinoma(196;0.00311)|READ - Rectum adenocarcinoma(331;0.0291)	6	2726	-		all_lung(284;1.06e-05)|Lung NSC(340;1.86e-05)|Colorectal(325;3.46e-05)|Renal(390;0.0007)|Breast(348;0.0021)|Ovarian(437;0.00503)|Myeloproliferative disorder(586;0.0255)|all_neural(195;0.0381)	586					Q5TGY4|Q6PJK1|Q6ZUQ6|Q99769|Q9NUF5	Frame_Shift_Del	DEL	ENST00000247087.5	37	c.1758delA	CCDS30652.1																																																																																				0.647	AHDC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000009523.3			38	111						38	111	---	---	---	---
HIVEP3	59269	broad.mit.edu	37	1	42047845	42047845	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:42047845delG	ENST00000372583.1	-	4	3509	c.2624delC	c.(2623-2625)cctfs	p.P875fs	HIVEP3_ENST00000460604.1_5'Flank|HIVEP3_ENST00000247584.5_Frame_Shift_Del_p.P875fs|HIVEP3_ENST00000429157.2_Frame_Shift_Del_p.P875fs|HIVEP3_ENST00000372584.1_Frame_Shift_Del_p.P875fs	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	875	Acidic 2.|Glu/Pro-rich.|No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN. {ECO:0000250}.				positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				AGGTTCCTTAGGGGGCGGCTC	0.592																																						ENST00000372584.1																			0				NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85						c.(2623-2625)ctfs		human immunodeficiency virus type I enhancer binding protein 3							54.0	63.0	60.0					1																	42047845		2202	4300	6502	SO:0001589	frameshift_variant	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:42047845delG	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.2624delC	1.37:g.42047845delG	ENSP00000361664:p.Pro875fs					HIVEP3_ENST00000429157.2_Frame_Shift_Del_p.P875fs|HIVEP3_ENST00000372583.1_Frame_Shift_Del_p.P875fs|HIVEP3_ENST00000247584.5_Frame_Shift_Del_p.P875fs	p.P875fs	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN			3	3638	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	875			Acidic 2.|Glu/Pro-rich.|No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).		A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Frame_Shift_Del	DEL	ENST00000372583.1	37	c.2624delC	CCDS463.1																																																																																				0.592	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		7	175						7	175	---	---	---	---
HIVEP3	59269	broad.mit.edu	37	1	42048868	42048868	+	Frame_Shift_Del	DEL	G	G	-	rs151333512		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:42048868delG	ENST00000372583.1	-	4	2486	c.1601delC	c.(1600-1602)cctfs	p.P534fs	HIVEP3_ENST00000247584.5_Frame_Shift_Del_p.P534fs|HIVEP3_ENST00000429157.2_Frame_Shift_Del_p.P534fs|HIVEP3_ENST00000372584.1_Frame_Shift_Del_p.P534fs	NM_024503.4	NP_078779.2	Q5T1R4	ZEP3_HUMAN	human immunodeficiency virus type I enhancer binding protein 3	534	No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN. {ECO:0000250}.				positive regulation of transcription, DNA-templated (GO:0045893)|skeletal muscle cell differentiation (GO:0035914)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)			NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)				GAGAGGCACAGGGGGGGCGGT	0.597																																						ENST00000372584.1																			0				NS(2)|breast(3)|central_nervous_system(5)|endometrium(13)|kidney(3)|large_intestine(13)|lung(33)|ovary(4)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(1)	85						c.(1600-1602)ctfs		human immunodeficiency virus type I enhancer binding protein 3							44.0	55.0	51.0					1																	42048868		2203	4299	6502	SO:0001589	frameshift_variant	59269				positive regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus	zinc ion binding	g.chr1:42048868delG	AF278765	CCDS463.1, CCDS44124.1	1p34	2013-01-08	2001-11-28		ENSG00000127124	ENSG00000127124		"""Zinc fingers, C2H2-type"""	13561	protein-coding gene	gene with protein product	"""kappabinding protein-1"""	606649	"""human immunodeficiency virus type I enhancer-binding protein 3"""			11161801	Standard	NR_038260		Approved	KRC, KBP1, KBP-1, SHN3, FLJ16752, KIAA1555, ZAS3, Schnurri-3, ZNF40C	uc001cha.4	Q5T1R4	OTTHUMG00000006361	ENST00000372583.1:c.1601delC	1.37:g.42048868delG	ENSP00000361664:p.Pro534fs					HIVEP3_ENST00000429157.2_Frame_Shift_Del_p.P534fs|HIVEP3_ENST00000372583.1_Frame_Shift_Del_p.P534fs|HIVEP3_ENST00000247584.5_Frame_Shift_Del_p.P534fs	p.P534fs	NM_001127714.2	NP_001121186.1	Q5T1R4	ZEP3_HUMAN			3	2615	-	Ovarian(52;0.00769)|all_hematologic(146;0.109)|Acute lymphoblastic leukemia(166;0.155)	Myeloproliferative disorder(586;0.0367)	534			No DNA binding activity or transactivation activity, but complete prevention of TRAF-dependent NF-Kappa-B activation; associates with TRAF2 and JUN (By similarity).		A7YY91|Q5T1R5|Q9BZS0|Q9HCL7	Frame_Shift_Del	DEL	ENST00000372583.1	37	c.1601delC	CCDS463.1																																																																																				0.597	HIVEP3-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000016978.1	NM_024503		38	97						38	97	---	---	---	---
RP5-947P14.1	0	broad.mit.edu	37	1	106623654	106623654	+	lincRNA	DEL	C	C	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:106623654delC	ENST00000437803.1	+	0	165																											CCGTGTAGGGCCCCCCGCTAG	0.657																																						ENST00000437803.1																			0																																																			0							g.chr1:106623654delC																													1.37:g.106623654delC														0	165	+									RNA	DEL	ENST00000437803.1	37																																																																																						0.657	RP5-947P14.1-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000030361.1			6	7						6	7	---	---	---	---
PRPF38B	55119	broad.mit.edu	37	1	109235395	109235396	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:109235395_109235396delTG	ENST00000370025.4	+	1	451_452	c.182_183delTG	c.(181-183)atgfs	p.M61fs	PRPF38B_ENST00000467302.1_3'UTR|PRPF38B_ENST00000370022.5_Frame_Shift_Del_p.M61fs|PRPF38B_ENST00000370021.1_5'UTR	NM_018061.2	NP_060531.2	Q5VTL8	PR38B_HUMAN	pre-mRNA processing factor 38B	61					mRNA processing (GO:0006397)|RNA splicing (GO:0008380)	spliceosomal complex (GO:0005681)	poly(A) RNA binding (GO:0044822)	p.M61I(1)		NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)		CTCAACCCCATGATCCTGACCA	0.584																																						ENST00000370025.4																			1	Substitution - Missense(1)	p.M61I(1)	lung(1)	NS(1)|kidney(3)|large_intestine(5)|lung(8)|prostate(1)|skin(1)	19						c.(181-183)afs		pre-mRNA processing factor 38B																																				SO:0001589	frameshift_variant	55119				mRNA processing|RNA splicing	spliceosomal complex		g.chr1:109235395_109235396delTG	AL833950	CCDS788.1	1p13.3	2013-10-03	2013-10-03		ENSG00000134186	ENSG00000134186			25512	protein-coding gene	gene with protein product			"""PRP38 pre-mRNA processing factor 38 (yeast) domain containing B"""				Standard	NM_018061		Approved	FLJ10330, NET1	uc001dvv.4	Q5VTL8	OTTHUMG00000010991	ENST00000370025.4:c.182_183delTG	1.37:g.109235395_109235396delTG	ENSP00000359042:p.Met61fs					PRPF38B_ENST00000467302.1_3'UTR|PRPF38B_ENST00000370022.5_Frame_Shift_Del_p.M61fs|PRPF38B_ENST00000370021.1_5'UTR	p.M61fs	NM_018061.2	NP_060531.2	Q5VTL8	PR38B_HUMAN		Colorectal(144;0.0149)|Lung(183;0.0888)|COAD - Colon adenocarcinoma(174;0.113)|Epithelial(280;0.161)	1	451_452	+		all_epithelial(167;0.000154)|all_lung(203;0.00026)|Lung NSC(277;0.000508)	61					Q05DD6|Q32Q58|Q5VTL9|Q6PK39|Q7Z6E2|Q86WF3|Q8IWG9|Q9NW40	Frame_Shift_Del	DEL	ENST00000370025.4	37	c.182_183delTG	CCDS788.1																																																																																				0.584	PRPF38B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030231.1	NM_018061		35	103						35	103	---	---	---	---
ATXN7L2	127002	broad.mit.edu	37	1	110033787	110033787	+	Silent	SNP	A	A	G			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:110033787A>G	ENST00000369870.3	+	10	1617	c.1602A>G	c.(1600-1602)tcA>tcG	p.S534S	CYB561D1_ENST00000310611.4_5'Flank|CYB561D1_ENST00000430195.2_5'Flank|CYB561D1_ENST00000420578.2_5'Flank|ATXN7L2_ENST00000459635.1_3'UTR|CYB561D1_ENST00000533024.1_5'Flank|CYB561D1_ENST00000527072.1_5'Flank|CYB561D1_ENST00000496961.1_5'Flank|CYB561D1_ENST00000393709.3_5'Flank|CYB561D1_ENST00000528785.1_5'Flank|CYB561D1_ENST00000369868.3_5'Flank	NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN	ataxin 7-like 2	534										breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)		CTATCACCTCACCACTGCCTG	0.657											OREG0013635	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000369870.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(5)|ovary(2)|prostate(1)|skin(1)	17						c.(1600-1602)tcA>tcG		ataxin 7-like 2							32.0	32.0	32.0					1																	110033787		2202	4300	6502	SO:0001819	synonymous_variant	127002							g.chr1:110033787A>G	BC037582	CCDS30794.1	1p13.2	2008-02-05			ENSG00000162650	ENSG00000162650			28713	protein-coding gene	gene with protein product						12477932	Standard	NM_153340		Approved	MGC46534, FLJ00381	uc001dxr.3	Q5T6C5	OTTHUMG00000011027	ENST00000369870.3:c.1602A>G	1.37:g.110033787A>G			OREG0013635	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1424	ATXN7L2_ENST00000459635.1_3'UTR	p.S534S	NM_153340.4	NP_699171.3	Q5T6C5	AT7L2_HUMAN		Colorectal(144;0.0129)|Lung(183;0.0426)|Epithelial(280;0.0675)|READ - Rectum adenocarcinoma(129;0.0693)|all cancers(265;0.071)|LUSC - Lung squamous cell carcinoma(189;0.228)	10	1617	+		all_epithelial(167;0.00197)|all_lung(203;0.00291)|Lung NSC(277;0.00453)	534						Silent	SNP	ENST00000369870.3	37	c.1602A>G	CCDS30794.1	.	.	.	.	.	.	.	.	.	.	A	7.461	0.644754	0.14451	.	.	ENSG00000162650	ENST00000541125	.	.	.	5.23	1.68	0.24146	.	.	.	.	.	T	0.45498	0.1345	.	.	.	0.80722	D	1	.	.	.	.	.	.	T	0.48692	-0.9013	5	0.87932	D	0	-5.5649	4.3136	0.10982	0.5747:0.1651:0.2602:0.0	.	.	.	.	A	534	.	ENSP00000442752:T534A	T	+	1	0	ATXN7L2	109835310	0.996000	0.38824	0.999000	0.59377	0.994000	0.84299	0.356000	0.20181	0.127000	0.18452	0.379000	0.24179	ACC		0.657	ATXN7L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000030331.1	NM_153340		17	31	0	0	0	1	0	17	31				
SLC16A4	9122	broad.mit.edu	37	1	110906426	110906427	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:110906426_110906427insA	ENST00000369779.4	-	9	1674_1675	c.1425_1426insT	c.(1423-1428)tttgtafs	p.V476fs	SLC16A4_ENST00000472422.2_Frame_Shift_Ins_p.V428fs|SLC16A4_ENST00000437429.2_Frame_Shift_Ins_p.L372fs|SLC16A4_ENST00000541986.1_Frame_Shift_Ins_p.V414fs|SLC16A4_ENST00000369781.4_Frame_Shift_Ins_p.V308fs	NM_001201547.1|NM_004696.2	NP_001188476.1|NP_004687.1	O15374	MOT5_HUMAN	solute carrier family 16, member 4	476					monocarboxylic acid transport (GO:0015718)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	monocarboxylic acid transmembrane transporter activity (GO:0008028)|symporter activity (GO:0015293)	p.F475fs*12(1)		breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2)	16		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	Pyruvic acid(DB00119)	GCCAATGGTACAAAAAAAAAGG	0.391																																						ENST00000369779.4																			1	Deletion - Frameshift(1)	p.F475fs*12(1)	large_intestine(1)	breast(1)|endometrium(1)|kidney(4)|large_intestine(2)|lung(2)|ovary(3)|prostate(1)|stomach(2)	16						c.(1423-1428)tttaccfs		solute carrier family 16, member 4	Pyruvic acid(DB00119)																																			SO:0001589	frameshift_variant	9122					integral to plasma membrane|membrane fraction	monocarboxylic acid transmembrane transporter activity|symporter activity	g.chr1:110906426_110906427insA	U59185	CCDS823.1, CCDS55621.1, CCDS55622.1, CCDS55623.1, CCDS55624.1	1p13.3	2013-07-18	2013-07-18		ENSG00000168679	ENSG00000168679		"""Solute carriers"""	10925	protein-coding gene	gene with protein product		603878	"""solute carrier family 16 (monocarboxylic acid transporters), member 4"", ""solute carrier family 16, member 4 (monocarboxylic acid transporter 5)"""			9425115	Standard	NM_004696		Approved	MCT4, MCT5	uc001dzo.2	O15374	OTTHUMG00000011285	ENST00000369779.4:c.1426dupT	1.37:g.110906435_110906435dupA	ENSP00000358794:p.Val476fs					SLC16A4_ENST00000472422.2_Frame_Shift_Ins_p.T428fs|SLC16A4_ENST00000437429.2_Frame_Shift_Ins_p.L372fs|SLC16A4_ENST00000369781.4_Frame_Shift_Ins_p.T308fs|SLC16A4_ENST00000541986.1_Frame_Shift_Ins_p.T414fs	p.T476fs	NM_001201547.1|NM_004696.2	NP_001188476.1|NP_004687.1	O15374	MOT5_HUMAN		Lung(183;0.0251)|all cancers(265;0.0766)|Epithelial(280;0.0807)|Colorectal(144;0.112)|LUSC - Lung squamous cell carcinoma(189;0.14)	9	1674_1675	-		all_cancers(81;0.000476)|all_epithelial(167;0.000401)|all_lung(203;0.00277)|Lung NSC(277;0.0043)	476					A8K3V5|B2R9C9|B4DJ67|B4DPX7|E7EPY8|G3V175|Q5T612|Q8WU09	Frame_Shift_Ins	INS	ENST00000369779.4	37	c.1425_1426insT	CCDS823.1																																																																																				0.391	SLC16A4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000031115.3	NM_004696		12	65						12	65	---	---	---	---
DUSP27	92235	broad.mit.edu	37	1	167096818	167096818	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:167096818delG	ENST00000361200.2	+	6	2616	c.2450delG	c.(2449-2451)aggfs	p.R817fs	DUSP27_ENST00000443333.1_Frame_Shift_Del_p.R817fs|DUSP27_ENST00000271385.5_Frame_Shift_Del_p.R817fs|DUSP27_ENST00000485151.1_Intron			Q5VZP5	DUS27_HUMAN	dual specificity phosphatase 27 (putative)	817					protein dephosphorylation (GO:0006470)		protein tyrosine/serine/threonine phosphatase activity (GO:0008138)			NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						AGCAAAGTGAGGGGGACCAGC	0.552																																						ENST00000361200.2																			0				NS(1)|breast(1)|central_nervous_system(1)|cervix(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(4)|kidney(2)|large_intestine(11)|liver(1)|lung(46)|ovary(5)|prostate(5)|skin(4)|upper_aerodigestive_tract(3)	89						c.(2449-2451)agfs		dual specificity phosphatase 27 (putative)							88.0	81.0	84.0					1																	167096818		2203	4300	6503	SO:0001589	frameshift_variant	92235				protein dephosphorylation		protein tyrosine/serine/threonine phosphatase activity	g.chr1:167096818delG	AF119045	CCDS30932.1	1q22-q24	2008-02-05			ENSG00000198842	ENSG00000198842			25034	protein-coding gene	gene with protein product							Standard	NM_001080426		Approved		uc001geb.1	Q5VZP5	OTTHUMG00000034434	ENST00000361200.2:c.2450delG	1.37:g.167096818delG	ENSP00000354483:p.Arg817fs					DUSP27_ENST00000485151.1_Intron|DUSP27_ENST00000271385.5_Frame_Shift_Del_p.R817fs|DUSP27_ENST00000443333.1_Frame_Shift_Del_p.R817fs	p.R817fs			Q5VZP5	DUS27_HUMAN			6	2616	+			817					A0AUM4|Q9C074	Frame_Shift_Del	DEL	ENST00000361200.2	37	c.2450delG	CCDS30932.1																																																																																				0.552	DUSP27-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000083244.1	NM_001080426		18	74						18	74	---	---	---	---
SMG7	9887	broad.mit.edu	37	1	183518987	183518987	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:183518987delC	ENST00000347615.2	+	19	3031	c.2912delC	c.(2911-2913)gccfs	p.A971fs	SMG7_ENST00000367537.3_Frame_Shift_Del_p.A1004fs|SMG7_ENST00000508461.1_Frame_Shift_Del_p.A979fs|SMG7_ENST00000507469.1_Frame_Shift_Del_p.A975fs|SMG7_ENST00000515829.2_Frame_Shift_Del_p.A925fs|SMG7_ENST00000456731.2_Frame_Shift_Del_p.A883fs	NM_173156.2	NP_775179.1	Q92540	SMG7_HUMAN	SMG7 nonsense mediated mRNA decay factor	971	Ser-rich.				gene expression (GO:0010467)|mRNA export from nucleus (GO:0006406)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|regulation of dephosphorylation (GO:0035303)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intermediate filament cytoskeleton (GO:0045111)|nucleus (GO:0005634)	protein phosphatase 2A binding (GO:0051721)			breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						CCCTCAATGGCCCCCCAGGAA	0.428																																						ENST00000367537.3																			0				breast(1)|central_nervous_system(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(2)|large_intestine(7)|lung(16)|prostate(3)|skin(5)|upper_aerodigestive_tract(1)|urinary_tract(1)	46						c.(3010-3012)gcfs		SMG7 nonsense mediated mRNA decay factor							116.0	108.0	111.0					1																	183518987		2203	4300	6503	SO:0001589	frameshift_variant	9887				mRNA export from nucleus|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay|regulation of dephosphorylation	cytoplasm|intermediate filament cytoskeleton|nucleus	protein phosphatase 2A binding	g.chr1:183518987delC	D87437	CCDS1355.1, CCDS41445.1, CCDS41445.2, CCDS53444.1, CCDS53445.1	1q25	2013-07-02	2013-07-02	2006-02-16	ENSG00000116698	ENSG00000116698			16792	protein-coding gene	gene with protein product	"""EST1 telomerase component homolog C (S. cerevisiae)"""	610964	"""chromosome 1 open reading frame 16"", ""smg-7 homolog, nonsense mediated mRNA decay factor (C. elegans)"""	C1orf16		14636577, 15721257	Standard	NM_173156		Approved	KIAA0250, EST1C, SGA56M, SMG-7	uc001gqf.3	Q92540	OTTHUMG00000035221	ENST00000347615.2:c.2912delC	1.37:g.183518987delC	ENSP00000340766:p.Ala971fs					SMG7_ENST00000515829.2_Frame_Shift_Del_p.A925fs|SMG7_ENST00000347615.2_Frame_Shift_Del_p.A971fs|SMG7_ENST00000508461.1_Frame_Shift_Del_p.A979fs|SMG7_ENST00000456731.2_Frame_Shift_Del_p.A883fs|SMG7_ENST00000507469.1_Frame_Shift_Del_p.A975fs	p.A1004fs			Q92540	SMG7_HUMAN			21	3206	+			971			Ser-rich.		B4DRB2|E9PCI0|E9PEH2|Q5T1Q0|Q6PIE0|Q7Z7H9|Q8IXC1|Q8IXC2	Frame_Shift_Del	DEL	ENST00000347615.2	37	c.3011delC	CCDS1355.1																																																																																				0.428	SMG7-002	KNOWN	basic|appris_principal|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000085432.1	NM_014837		26	72						26	72	---	---	---	---
C1orf106	55765	broad.mit.edu	37	1	200881099	200881099	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:200881099delG	ENST00000367342.4	+	9	1933	c.1733delG	c.(1732-1734)cggfs	p.R578fs	C1orf106_ENST00000465162.1_3'UTR|C1orf106_ENST00000413687.2_Frame_Shift_Del_p.R493fs	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN	chromosome 1 open reading frame 106	578										endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						CCGGCAGGCCGGGGGCTCAGC	0.716																																						ENST00000367342.4																			0				endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(6)|ovary(1)|prostate(2)|skin(3)|stomach(1)|urinary_tract(2)	21						c.(1732-1734)cgfs		chromosome 1 open reading frame 106							2.0	2.0	2.0					1																	200881099		1387	3007	4394	SO:0001589	frameshift_variant	55765							g.chr1:200881099delG	AK001763	CCDS44292.1	1q32.1	2011-02-15			ENSG00000163362	ENSG00000163362			25599	protein-coding gene	gene with protein product						14702039	Standard	NM_018265		Approved	FLJ10901	uc001gvo.4	Q3KP66	OTTHUMG00000035789	ENST00000367342.4:c.1733delG	1.37:g.200881099delG	ENSP00000356311:p.Arg578fs					C1orf106_ENST00000413687.2_Frame_Shift_Del_p.R493fs|C1orf106_ENST00000465162.1_3'UTR	p.R578fs	NM_018265.3	NP_060735.3	Q3KP66	CA106_HUMAN			9	1933	+			578					B4E1K9|E9PFY0|Q9NV65|Q9NVI0	Frame_Shift_Del	DEL	ENST00000367342.4	37	c.1733delG																																																																																					0.716	C1orf106-001	KNOWN	basic	protein_coding	protein_coding	OTTHUMT00000087057.2	NM_018265		2	4						2	4	---	---	---	---
KCTD3	51133	broad.mit.edu	37	1	215793922	215793922	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:215793922delA	ENST00000259154.4	+	18	2704	c.2410delA	c.(2410-2412)aaafs	p.K805fs	KCTD3_ENST00000495537.1_3'UTR	NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN	potassium channel tetramerization domain containing 3	805					protein homooligomerization (GO:0051260)					breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33				all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)		TCCTCGGCATAAAAAAAGTGA	0.418																																						ENST00000259154.4																			0				breast(4)|endometrium(2)|kidney(1)|large_intestine(5)|lung(16)|ovary(3)|prostate(1)|skin(1)	33						c.(2410-2412)aafs		potassium channel tetramerization domain containing 3							88.0	89.0	88.0					1																	215793922		2203	4299	6502	SO:0001589	frameshift_variant	51133					voltage-gated potassium channel complex	protein binding|voltage-gated potassium channel activity	g.chr1:215793922delA	AK024547	CCDS1515.1	1q41	2013-06-20	2013-06-20		ENSG00000136636	ENSG00000136636			21305	protein-coding gene	gene with protein product		613272	"""potassium channel tetramerisation domain containing 3"""			10508479	Standard	NM_016121		Approved	NY-REN-45	uc001hks.3	Q9Y597	OTTHUMG00000037019	ENST00000259154.4:c.2410delA	1.37:g.215793922delA	ENSP00000259154:p.Lys805fs					KCTD3_ENST00000495537.1_3'UTR	p.K805fs	NM_016121.3	NP_057205.2	Q9Y597	KCTD3_HUMAN		all cancers(67;0.0164)|OV - Ovarian serous cystadenocarcinoma(81;0.019)|GBM - Glioblastoma multiforme(131;0.0862)|Epithelial(68;0.13)	18	2704	+			805					A0AV15|D3DTA6|Q49AG7|Q504Q9|Q6PJN6|Q8ND58|Q8NDJ0|Q8WX16	Frame_Shift_Del	DEL	ENST00000259154.4	37	c.2410delA	CCDS1515.1																																																																																				0.418	KCTD3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000089871.2	NM_016121		32	60						32	60	---	---	---	---
MTR	4548	broad.mit.edu	37	1	237024474	237024474	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr1:237024474delA	ENST00000366577.5	+	20	2487	c.2093delA	c.(2092-2094)caafs	p.Q698fs	MTR_ENST00000535889.1_Intron	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	5-methyltetrahydrofolate-homocysteine methyltransferase	698	B12-binding N-terminal. {ECO:0000255|PROSITE-ProRule:PRU00666}.				cellular nitrogen compound metabolic process (GO:0034641)|cobalamin metabolic process (GO:0009235)|methylation (GO:0032259)|nervous system development (GO:0007399)|pteridine-containing compound metabolic process (GO:0042558)|small molecule metabolic process (GO:0044281)|sulfur amino acid metabolic process (GO:0000096)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)|xenobiotic metabolic process (GO:0006805)	cytosol (GO:0005829)	cobalamin binding (GO:0031419)|methionine synthase activity (GO:0008705)|S-adenosylmethionine-homocysteine S-methyltransferase activity (GO:0008898)|zinc ion binding (GO:0008270)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	Cyanocobalamin(DB00115)|Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)	AGGTTAAACCAAAAAAAATAT	0.308																																						ENST00000366577.5																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(10)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(8)|lung(30)|ovary(1)|pancreas(1)|prostate(2)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)	67						c.(2092-2094)cafs		5-methyltetrahydrofolate-homocysteine methyltransferase	Hydroxocobalamin(DB00200)|L-Methionine(DB00134)|Tetrahydrofolic acid(DB00116)			61,4205		23,15,2095	67.0	69.0	68.0			3.8	1.0	1		69	81,8173		35,11,4081	no	frameshift	MTR	NM_000254.2		58,26,6176	A1A1,A1R,RR		0.9813,1.4299,1.1342			237024474	142,12378	2203	4300	6503	SO:0001589	frameshift_variant	4548				nervous system development|xenobiotic metabolic process	cytosol	cobalamin binding|homocysteine S-methyltransferase activity|methionine synthase activity|protein binding|zinc ion binding	g.chr1:237024474delA	U73338	CCDS1614.1, CCDS73054.1	1q43	2011-05-12			ENSG00000116984	ENSG00000116984	2.1.1.13		7468	protein-coding gene	gene with protein product		156570				8968735	Standard	NM_000254		Approved	cblG	uc001hyi.4	Q99707	OTTHUMG00000040060	ENST00000366577.5:c.2093delA	1.37:g.237024474delA	ENSP00000355536:p.Gln698fs					MTR_ENST00000535889.1_Intron	p.Q698fs	NM_000254.2	NP_000245.2	Q99707	METH_HUMAN	OV - Ovarian serous cystadenocarcinoma(106;0.0106)	KIRC - Kidney renal clear cell carcinoma(1967;0.248)	20	2487	+	Ovarian(103;0.0634)|Breast(184;0.221)	all_cancers(173;2.79e-22)|all_epithelial(177;4.84e-14)|Breast(1374;0.00123)|Prostate(94;0.0181)|Lung SC(1967;0.0262)|Acute lymphoblastic leukemia(190;0.117)	698			B12-binding N-terminal.		A1L4N8|A9Z1W4|B9EGF7|Q99713|Q99723	Frame_Shift_Del	DEL	ENST00000366577.5	37	c.2093delA	CCDS1614.1																																																																																				0.308	MTR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000096632.2	NM_000254		7	76						7	76	---	---	---	---
EMILIN1	11117	broad.mit.edu	37	2	27302057	27302057	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:27302057delG	ENST00000380320.4	+	1	623	c.124delG	c.(124-126)gggfs	p.G43fs		NM_007046.3	NP_008977	Q9Y6C2	EMIL1_HUMAN	elastin microfibril interfacer 1	43					cell adhesion (GO:0007155)|extracellular matrix organization (GO:0030198)|positive regulation of cell-substrate adhesion (GO:0010811)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|extracellular vesicular exosome (GO:0070062)|proteinaceous extracellular matrix (GO:0005578)	extracellular matrix constituent conferring elasticity (GO:0030023)			breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)					CCTCAGCCCCGGGGGGCCCCA	0.682																																						ENST00000380320.4																			0				breast(1)|central_nervous_system(1)|kidney(5)|large_intestine(1)|lung(14)|ovary(2)|pancreas(1)|upper_aerodigestive_tract(1)	26						c.(124-126)ggfs		elastin microfibril interfacer 1							7.0	10.0	9.0					2																	27302057		2069	4128	6197	SO:0001589	frameshift_variant	11117				cell adhesion	collagen		g.chr2:27302057delG	AF088916	CCDS1733.1	2p23.3-p23.2	2008-02-05			ENSG00000138080	ENSG00000138080		"""EMI domain containing"""	19880	protein-coding gene	gene with protein product		130660					Standard	NM_007046		Approved	DKFZp586M121, gp115	uc002rii.4	Q9Y6C2	OTTHUMG00000097069	ENST00000380320.4:c.124delG	2.37:g.27302057delG	ENSP00000369677:p.Gly43fs						p.G43fs	NM_007046.3	NP_008977.1	Q9Y6C2	EMIL1_HUMAN			1	623	+	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.215)		43					A5PL03|H0Y7A0|Q53SY9|Q96G58|Q96IH6|Q9UG76	Frame_Shift_Del	DEL	ENST00000380320.4	37	c.124delG	CCDS1733.1																																																																																				0.682	EMILIN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000214185.1	NM_007046		12	28						12	28	---	---	---	---
NLRC4	58484	broad.mit.edu	37	2	32449824	32449824	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:32449824delA	ENST00000404025.2	-	10	3281	c.2793delT	c.(2791-2793)tttfs	p.F931fs	NLRC4_ENST00000402280.1_Frame_Shift_Del_p.F931fs|NLRC4_ENST00000342905.6_Frame_Shift_Del_p.F266fs|NLRC4_ENST00000360906.5_Frame_Shift_Del_p.F931fs			Q9NPP4	NLRC4_HUMAN	NLR family, CARD domain containing 4	931					activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|activation of innate immune response (GO:0002218)|defense response to bacterium (GO:0042742)|detection of bacterium (GO:0016045)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|interleukin-1 beta secretion (GO:0050702)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of apoptotic process (GO:0043065)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|protein homooligomerization (GO:0051260)|pyroptosis (GO:0070269)	cytosol (GO:0005829)|intracellular (GO:0005622)|IPAF inflammasome complex (GO:0072557)	ATP binding (GO:0005524)|identical protein binding (GO:0042802)|magnesium ion binding (GO:0000287)|protein homodimerization activity (GO:0042803)			breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)					GGTTCTTTCCAAAAAATGCAC	0.328																																						ENST00000404025.2																			0				breast(1)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(6)|lung(1)|ovary(3)|skin(2)|stomach(2)	16						c.(2791-2793)ttfs		NLR family, CARD domain containing 4							40.0	42.0	42.0					2																	32449824		2203	4299	6502	SO:0001589	frameshift_variant	58484				activation of caspase activity|defense response to bacterium|detection of bacterium|interleukin-1 beta secretion|positive regulation of apoptosis	cytoplasm	ATP binding|magnesium ion binding|protein homodimerization activity	g.chr2:32449824delA	AF376061	CCDS33174.1	2p22-p21	2008-08-27	2006-12-08	2006-12-08	ENSG00000091106	ENSG00000091106		"""Nucleotide-binding domain and leucine rich repeat containing"""	16412	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and CARD domain containing 4"", ""NOD-like receptor C4"""	606831	"""caspase recruitment domain family, member 12"""	CARD12		11374873	Standard	NM_021209		Approved	CLAN1, ipaf, CLANA, CLANB, CLANC, CLAND, CLR2.1, CLAN	uc021vfq.1	Q9NPP4	OTTHUMG00000152107	ENST00000404025.2:c.2793delT	2.37:g.32449824delA	ENSP00000385090:p.Phe931fs					NLRC4_ENST00000402280.1_Frame_Shift_Del_p.F931fs|NLRC4_ENST00000342905.6_Frame_Shift_Del_p.F266fs|NLRC4_ENST00000360906.5_Frame_Shift_Del_p.F931fs	p.F931fs			Q9NPP4	NLRC4_HUMAN			10	3281	-	Acute lymphoblastic leukemia(172;0.155)|all_hematologic(175;0.208)		931					A8K9F8|B2RBQ3|B3KTF0|D6W580|Q96J81|Q96J82|Q96J83	Frame_Shift_Del	DEL	ENST00000404025.2	37	c.2793delT	CCDS33174.1																																																																																				0.328	NLRC4-001	KNOWN	non_canonical_other|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000325222.2	NM_021209		29	63						29	63	---	---	---	---
NIFK-AS1	254128	broad.mit.edu	37	2	122466727	122466727	+	RNA	DEL	T	T	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:122466727delT	ENST00000419902.1	+	0	637					NR_037857.1																						TCACACCAGGtttttttttgt	0.468																																						ENST00000419902.1																			0																																																			254128							g.chr2:122466727delT																													2.37:g.122466727delT								NR_037857.1						0	637	+									RNA	DEL	ENST00000419902.1	37																																																																																						0.468	AC018737.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000330755.2			7	9						7	9	---	---	---	---
AOX1	316	broad.mit.edu	37	2	201477409	201477410	+	Frame_Shift_Ins	INS	-	-	T			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:201477409_201477410insT	ENST00000374700.2	+	14	1582_1583	c.1341_1342insT	c.(1342-1344)tttfs	p.F448fs	AOX1_ENST00000485106.1_3'UTR	NM_001159.3	NP_001150.3	Q06278	AOXA_HUMAN	aldehyde oxidase 1	448					inflammatory response (GO:0006954)|reactive oxygen species metabolic process (GO:0072593)|small molecule metabolic process (GO:0044281)|vitamin B6 metabolic process (GO:0042816)|vitamin metabolic process (GO:0006766)|water-soluble vitamin metabolic process (GO:0006767)	cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)	2 iron, 2 sulfur cluster binding (GO:0051537)|aldehyde oxidase activity (GO:0004031)|electron carrier activity (GO:0009055)|flavin adenine dinucleotide binding (GO:0050660)|iron ion binding (GO:0005506)|molybdopterin cofactor binding (GO:0043546)|NAD binding (GO:0051287)|UDP-N-acetylmuramate dehydrogenase activity (GO:0008762)|xanthine dehydrogenase activity (GO:0004854)	p.F448fs*10(1)		breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81					Allopurinol(DB00437)|Aminocaproic Acid(DB00513)|Brimonidine(DB00484)|Famciclovir(DB00426)|Menadione(DB00170)|Mercaptopurine(DB01033)|Methotrexate(DB00563)|Pyrazinamide(DB00339)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)	GAATGAGAGTCTTTTTTGGAGA	0.47																																						ENST00000374700.2																			1	Insertion - Frameshift(1)	p.F448fs*10(1)	large_intestine(1)	breast(5)|endometrium(3)|kidney(4)|large_intestine(13)|lung(38)|ovary(5)|pancreas(1)|prostate(2)|skin(3)|stomach(2)|upper_aerodigestive_tract(2)|urinary_tract(3)	81						c.(1339-1344)gtttttfs		aldehyde oxidase 1	Brimonidine(DB00484)|Chlorpromazine(DB00477)|Famciclovir(DB00426)|Menadione(DB00170)|Methotrexate(DB00563)|NADH(DB00157)|Palonosetron(DB00377)|Penciclovir(DB00299)|Raloxifene(DB00481)|Zaleplon(DB00962)|Zonisamide(DB00909)																																			SO:0001589	frameshift_variant	316				inflammatory response|reactive oxygen species metabolic process	cytoplasm	2 iron, 2 sulfur cluster binding|aldehyde oxidase activity|flavin adenine dinucleotide binding|iron ion binding|NAD binding|xanthine dehydrogenase activity	g.chr2:201477409_201477410insT	AF017060	CCDS33360.1	2q33	2008-05-20			ENSG00000138356	ENSG00000138356			553	protein-coding gene	gene with protein product		602841				7570184	Standard	NM_001159		Approved	AO, AOH1	uc002uvx.3	Q06278	OTTHUMG00000154536	ENST00000374700.2:c.1347dupT	2.37:g.201477415_201477415dupT	ENSP00000363832:p.Phe448fs					AOX1_ENST00000485106.1_3'UTR	p.VF447fs	NM_001159.3	NP_001150.3	Q06278	ADO_HUMAN			14	1582_1583	+			447					O14765|Q53RR8|Q53TV3|Q9BYF0|Q9UPG6	Frame_Shift_Ins	INS	ENST00000374700.2	37	c.1341_1342insT	CCDS33360.1																																																																																				0.470	AOX1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000335844.1	NM_001159		37	81						37	81	---	---	---	---
CCDC108	255101	broad.mit.edu	37	2	219875636	219875636	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:219875636delT	ENST00000341552.5	-	25	4123	c.4040delA	c.(4039-4041)aatfs	p.N1347fs	AC097468.4_ENST00000441450.1_RNA|CCDC108_ENST00000453220.1_Frame_Shift_Del_p.N1347fs|CCDC108_ENST00000441968.1_Frame_Shift_Del_p.N1347fs	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN	coiled-coil domain containing 108	1347						integral component of membrane (GO:0016021)	poly(A) RNA binding (GO:0044822)|structural molecule activity (GO:0005198)			autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80		Renal(207;0.0915)		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GTGATCAAAATTTTTTTCCTG	0.522																																						ENST00000341552.5																			0				autonomic_ganglia(1)|breast(1)|cervix(1)|endometrium(4)|kidney(2)|large_intestine(18)|liver(1)|lung(34)|ovary(2)|pancreas(1)|prostate(6)|skin(5)|stomach(2)|upper_aerodigestive_tract(1)|urinary_tract(1)	80						c.(4039-4041)atfs		coiled-coil domain containing 108							65.0	66.0	66.0					2																	219875636		2203	4299	6502	SO:0001589	frameshift_variant	255101					integral to membrane	structural molecule activity	g.chr2:219875636delT	NM_194302, AL833882, AK127189	CCDS2430.2, CCDS2431.2, CCDS63125.1, CCDS63126.1	2q35	2008-02-05			ENSG00000181378	ENSG00000181378			25325	protein-coding gene	gene with protein product		614270				12477932	Standard	NM_194302		Approved	DKFZp434O0527, MGC35338	uc002vjl.2	Q6ZU64	OTTHUMG00000133013	ENST00000341552.5:c.4040delA	2.37:g.219875636delT	ENSP00000340776:p.Asn1347fs					CCDC108_ENST00000441968.1_Frame_Shift_Del_p.N1347fs|AC097468.4_ENST00000441450.1_RNA|CCDC108_ENST00000453220.1_Frame_Shift_Del_p.N1347fs	p.N1347fs	NM_194302.2	NP_919278.2	Q6ZU64	CC108_HUMAN		Epithelial(149;1.12e-06)|all cancers(144;0.000196)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	25	4123	-		Renal(207;0.0915)	1347					A2BDD8|E9PCR1|E9PG25|E9PG72|Q6ZSR8|Q8N0T4|Q8NDJ3	Frame_Shift_Del	DEL	ENST00000341552.5	37	c.4040delA	CCDS2430.2																																																																																				0.522	CCDC108-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000256598.4	NM_194302		21	31						21	31	---	---	---	---
GLB1L	79411	broad.mit.edu	37	2	220103853	220103853	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:220103853delG	ENST00000295759.7	-	11	1336	c.1023delC	c.(1021-1023)cccfs	p.P341fs	GLB1L_ENST00000356283.3_Frame_Shift_Del_p.P251fs|GLB1L_ENST00000409640.1_Frame_Shift_Del_p.P251fs|GLB1L_ENST00000497855.1_5'UTR|GLB1L_ENST00000392089.2_Frame_Shift_Del_p.P341fs			Q6UWU2	GLB1L_HUMAN	galactosidase, beta 1-like	341					carbohydrate metabolic process (GO:0005975)	extracellular region (GO:0005576)	beta-galactosidase activity (GO:0004565)			breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)		GCTTAGGTGTGGGGTCCCCTG	0.453																																						ENST00000295759.7																			0				breast(1)|endometrium(3)|kidney(2)|large_intestine(5)|lung(7)|ovary(1)|prostate(2)|upper_aerodigestive_tract(1)	22						c.(1021-1023)ccfs		galactosidase, beta 1-like							115.0	112.0	113.0					2																	220103853		2203	4300	6503	SO:0001589	frameshift_variant	79411				carbohydrate metabolic process	extracellular region	cation binding|hydrolase activity, hydrolyzing O-glycosyl compounds	g.chr2:220103853delG		CCDS2437.1, CCDS74657.1	2q36.1	2008-02-05			ENSG00000163521	ENSG00000163521			28129	protein-coding gene	gene with protein product						12975309	Standard	XM_005246850		Approved	MGC10771	uc002vkm.3	Q6UWU2	OTTHUMG00000133133	ENST00000295759.7:c.1023delC	2.37:g.220103853delG	ENSP00000295759:p.Pro341fs					GLB1L_ENST00000356283.3_Frame_Shift_Del_p.P251fs|GLB1L_ENST00000497855.1_5'UTR|GLB1L_ENST00000392089.2_Frame_Shift_Del_p.P341fs|GLB1L_ENST00000409640.1_Frame_Shift_Del_p.P251fs	p.P341fs			Q6UWU2	GLB1L_HUMAN		Epithelial(149;1.3e-11)|all cancers(144;2.07e-10)|LUSC - Lung squamous cell carcinoma(224;0.008)|Lung(261;0.00942)	11	1336	-		all_lung(227;1.19e-05)|Lung NSC(271;2.76e-05)|Medulloblastoma(418;0.0208)|Esophageal squamous(248;0.0559)	341					Q96DR0	Frame_Shift_Del	DEL	ENST00000295759.7	37	c.1023delC	CCDS2437.1																																																																																				0.453	GLB1L-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256822.2	NM_024506		26	63						26	63	---	---	---	---
ACSL3	2181	broad.mit.edu	37	2	223793637	223793638	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:223793637_223793638insA	ENST00000357430.3	+	13	2054_2055	c.1523_1524insA	c.(1522-1527)ttaaaafs	p.LK508fs	ACSL3_ENST00000392066.3_Frame_Shift_Ins_p.LK508fs	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN	acyl-CoA synthetase long-chain family member 3	508					brain development (GO:0007420)|fatty acid biosynthetic process (GO:0006633)|long-chain fatty acid import (GO:0044539)|positive regulation of Golgi to plasma membrane protein transport (GO:0042998)|positive regulation of phosphatidylcholine biosynthetic process (GO:2001247)|positive regulation of secretion (GO:0051047)|response to nutrient (GO:0007584)|response to organic cyclic compound (GO:0014070)|very-low-density lipoprotein particle assembly (GO:0034379)	endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|lipid particle (GO:0005811)|membrane (GO:0016020)|mitochondrial outer membrane (GO:0005741)|perinuclear region of cytoplasm (GO:0048471)|peroxisome (GO:0005777)	ATP binding (GO:0005524)|long-chain fatty acid-CoA ligase activity (GO:0004467)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22		Renal(207;0.0183)		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	Icosapent(DB00159)	GAAATCAAATTAAAAAACTGGG	0.322			T	ETV1	prostate																																	ENST00000357430.3				Dom	yes		2	2q36	2181	T	acyl-CoA synthetase long-chain family member 3			E	ETV1		prostate		0				cervix(1)|endometrium(3)|kidney(1)|large_intestine(7)|lung(5)|ovary(2)|prostate(1)|skin(2)	22						c.(1522-1524)taafs		acyl-CoA synthetase long-chain family member 3	Icosapent(DB00159)																																			SO:0001589	frameshift_variant	2181				long-chain fatty-acyl-CoA biosynthetic process|triglyceride biosynthetic process	endoplasmic reticulum membrane|integral to membrane|microsome|mitochondrial outer membrane|peroxisomal membrane	ATP binding|fatty-acyl-CoA synthase activity|long-chain fatty acid-CoA ligase activity|protein binding	g.chr2:223793637_223793638insA	D89053	CCDS2455.1	2q34-q35	2008-02-05	2004-02-19	2004-02-20	ENSG00000123983	ENSG00000123983		"""Acyl-CoA synthetase family"""	3570	protein-coding gene	gene with protein product		602371	"""fatty-acid-Coenzyme A ligase, long-chain 3"""	FACL3			Standard	NM_004457		Approved	ACS3, PRO2194	uc002vnj.3	O95573	OTTHUMG00000133160	ENST00000357430.3:c.1529dupA	2.37:g.223793643_223793643dupA	ENSP00000350012:p.Leu508fs					ACSL3_ENST00000392066.3_Frame_Shift_Ins_p.*508fs	p.*508fs	NM_004457.3	NP_004448.2	O95573	ACSL3_HUMAN		Epithelial(121;1.28e-10)|all cancers(144;8.06e-08)|Lung(261;0.00834)|LUSC - Lung squamous cell carcinoma(224;0.00864)	13	2054_2055	+		Renal(207;0.0183)	508					Q60I92|Q8IUM9	Frame_Shift_Ins	INS	ENST00000357430.3	37	c.1523_1524insA	CCDS2455.1																																																																																				0.322	ACSL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256862.2	NM_004457		23	60						23	60	---	---	---	---
HDAC4	9759	broad.mit.edu	37	2	240009285	240009285	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:240009285delG	ENST00000345617.3	-	19	3190	c.2399delC	c.(2398-2400)cctfs	p.P800fs	AC017028.7_ENST00000579869.1_RNA|MIR4441_ENST00000582623.1_RNA|HDAC4_ENST00000543185.1_Frame_Shift_Del_p.P384fs|AC017028.8_ENST00000582701.1_RNA	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN	histone deacetylase 4	800	Histone deacetylase.				B cell activation (GO:0042113)|B cell differentiation (GO:0030183)|cardiac muscle hypertrophy in response to stress (GO:0014898)|chromatin remodeling (GO:0006338)|histone deacetylation (GO:0016575)|histone H3 deacetylation (GO:0070932)|histone H4 deacetylation (GO:0070933)|inflammatory response (GO:0006954)|negative regulation of cell proliferation (GO:0008285)|negative regulation of glycolytic process (GO:0045820)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of sequence-specific DNA binding transcription factor activity (GO:0043433)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|nervous system development (GO:0007399)|osteoblast development (GO:0002076)|peptidyl-lysine deacetylation (GO:0034983)|positive regulation of cell proliferation (GO:0008284)|positive regulation of protein sumoylation (GO:0033235)|positive regulation of sequence-specific DNA binding transcription factor activity (GO:0051091)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of cardiac muscle contraction by calcium ion signaling (GO:0010882)|regulation of gene expression, epigenetic (GO:0040029)|regulation of protein binding (GO:0043393)|regulation of skeletal muscle fiber development (GO:0048742)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|response to drug (GO:0042493)|response to interleukin-1 (GO:0070555)|skeletal system development (GO:0001501)|transcription, DNA-templated (GO:0006351)	A band (GO:0031672)|actomyosin (GO:0042641)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|histone deacetylase complex (GO:0000118)|neuromuscular junction (GO:0031594)|nucleus (GO:0005634)|transcriptional repressor complex (GO:0017053)|Z disc (GO:0030018)	activating transcription factor binding (GO:0033613)|core promoter binding (GO:0001047)|histone deacetylase activity (GO:0004407)|histone deacetylase binding (GO:0042826)|NAD-dependent histone deacetylase activity (H3-K14 specific) (GO:0032041)|NAD-dependent histone deacetylase activity (H3-K18 specific) (GO:0097372)|NAD-dependent histone deacetylase activity (H3-K9 specific) (GO:0046969)|NAD-dependent histone deacetylase activity (H4-K16 specific) (GO:0046970)|potassium ion binding (GO:0030955)|protein deacetylase activity (GO:0033558)|repressing transcription factor binding (GO:0070491)|transcription corepressor activity (GO:0003714)|transcription factor binding (GO:0008134)|zinc ion binding (GO:0008270)			NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)		ATGGTGTCCAGGGGGGCGGAC	0.607																																						ENST00000345617.3																			0				NS(1)|biliary_tract(1)|breast(4)|endometrium(5)|kidney(2)|large_intestine(7)|lung(27)|ovary(3)|pancreas(1)|skin(4)|upper_aerodigestive_tract(2)|urinary_tract(5)	62						c.(2398-2400)ctfs		histone deacetylase 4							73.0	62.0	66.0					2																	240009285		2203	4300	6503	SO:0001589	frameshift_variant	9759				B cell differentiation|cardiac muscle hypertrophy in response to stress|chromatin remodeling|histone H3 deacetylation|histone H4 deacetylation|inflammatory response|negative regulation of glycolysis|negative regulation of myotube differentiation|negative regulation of sequence-specific DNA binding transcription factor activity|negative regulation of transcription from RNA polymerase II promoter|nervous system development|peptidyl-lysine deacetylation|positive regulation of cell proliferation|positive regulation of protein sumoylation|positive regulation of sequence-specific DNA binding transcription factor activity|positive regulation of transcription from RNA polymerase II promoter|regulation of protein binding|response to denervation involved in regulation of muscle adaptation|response to interleukin-1|transcription, DNA-dependent	histone deacetylase complex|transcriptional repressor complex	activating transcription factor binding|histone deacetylase activity (H3-K16 specific)|histone deacetylase binding|NAD-dependent histone deacetylase activity (H3-K14 specific)|NAD-dependent histone deacetylase activity (H3-K9 specific)|NAD-dependent histone deacetylase activity (H4-K16 specific)|potassium ion binding|repressing transcription factor binding|zinc ion binding	g.chr2:240009285delG	AB006626	CCDS2529.1	2q37.3	2014-02-12			ENSG00000068024	ENSG00000068024			14063	protein-coding gene	gene with protein product		605314	"""brachydactyly-mental retardation syndrome"""	BDMR		10206986, 10220385, 20691407	Standard	NM_006037		Approved	KIAA0288, HDAC-A, HDACA, HD4, HA6116, HDAC-4	uc002vyk.4	P56524	OTTHUMG00000133344	ENST00000345617.3:c.2399delC	2.37:g.240009285delG	ENSP00000264606:p.Pro800fs					HDAC4_ENST00000543185.1_Frame_Shift_Del_p.P384fs	p.P800fs	NM_006037.3	NP_006028.2	P56524	HDAC4_HUMAN		Epithelial(121;6.38e-25)|OV - Ovarian serous cystadenocarcinoma(60;2.48e-12)|Kidney(56;6.04e-08)|KIRC - Kidney renal clear cell carcinoma(57;1.18e-06)|BRCA - Breast invasive adenocarcinoma(100;3.99e-05)|Lung(119;0.00942)|LUSC - Lung squamous cell carcinoma(224;0.04)	19	3190	-		all_epithelial(40;1.45e-17)|Breast(86;1.53e-05)|Renal(207;0.000355)|all_lung(227;0.0121)|Ovarian(221;0.0183)|Lung NSC(271;0.0413)|Melanoma(123;0.0749)|all_hematologic(139;0.159)	800			Histone deacetylase.		Q9UND6	Frame_Shift_Del	DEL	ENST00000345617.3	37	c.2399delC	CCDS2529.1																																																																																				0.607	HDAC4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257174.2	NM_006037		9	32						9	32	---	---	---	---
PDCD1	5133	broad.mit.edu	37	2	242793362	242793363	+	Frame_Shift_Ins	INS	-	-	G	rs137861407	byFrequency	TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr2:242793362_242793363insG	ENST00000334409.5	-	5	783_784	c.714_715insC	c.(712-717)cccgtgfs	p.V239fs		NM_005018.2	NP_005009.2	Q15116	PDCD1_HUMAN	programmed cell death 1	239					apoptotic process (GO:0006915)|humoral immune response (GO:0006959)|multicellular organismal development (GO:0007275)|signal transduction (GO:0007165)|T cell costimulation (GO:0031295)	external side of plasma membrane (GO:0009897)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	signal transducer activity (GO:0004871)			endometrium(1)|lung(2)|ovary(1)|prostate(3)|skin(1)	8		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0219)		ACACAGGGCACGGGGGGCTCCG	0.629																																						ENST00000334409.5																			0				endometrium(1)|lung(2)|ovary(1)|prostate(3)|skin(1)	8						c.(712-717)cctgccfs		programmed cell death 1																																				SO:0001589	frameshift_variant	5133				apoptosis|humoral immune response|multicellular organismal development|T cell costimulation	integral to membrane	protein tyrosine phosphatase activity|signal transducer activity	g.chr2:242793362_242793363insG	AY206416	CCDS33428.1	2q37.3	2014-01-29			ENSG00000188389	ENSG00000188389		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"""	8760	protein-coding gene	gene with protein product		600244	"""systemic lupus erythematosus susceptibility 2"""	SLEB2		7851902, 12402038	Standard	NM_005018		Approved	CD279, PD1, hSLE1	uc002wcq.4	Q15116	OTTHUMG00000151342	ENST00000334409.5:c.715dupC	2.37:g.242793368_242793368dupG	ENSP00000335062:p.Val239fs						p.A239fs	NM_005018.2	NP_005009.2	Q15116	PDCD1_HUMAN		Epithelial(32;3.84e-33)|all cancers(36;8.08e-31)|OV - Ovarian serous cystadenocarcinoma(60;7.41e-15)|Kidney(56;3.04e-09)|KIRC - Kidney renal clear cell carcinoma(57;3.23e-08)|BRCA - Breast invasive adenocarcinoma(100;1.63e-06)|Lung(119;0.000152)|LUSC - Lung squamous cell carcinoma(224;0.00154)|Colorectal(34;0.0129)|COAD - Colon adenocarcinoma(134;0.0219)	5	783_784	-		all_cancers(19;1.09e-40)|all_epithelial(40;2.03e-18)|Breast(86;1.53e-05)|all_lung(227;0.00338)|Renal(207;0.00502)|Ovarian(221;0.00716)|Lung NSC(271;0.012)|Esophageal squamous(248;0.129)|Melanoma(123;0.144)|all_hematologic(139;0.158)|all_neural(83;0.243)|Hepatocellular(293;0.244)	239					O00517|Q8IX89	Frame_Shift_Ins	INS	ENST00000334409.5	37	c.714_715insC	CCDS33428.1																																																																																				0.629	PDCD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000322313.1	NM_005018		19	69						19	69	---	---	---	---
SCN5A	6331	broad.mit.edu	37	3	38622626	38622626	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr3:38622626delG	ENST00000333535.4	-	17	3173	c.3024delC	c.(3022-3024)cccfs	p.P1008fs	SCN5A_ENST00000451551.2_Frame_Shift_Del_p.P1008fs|SCN5A_ENST00000414099.2_Frame_Shift_Del_p.P1008fs|SCN5A_ENST00000413689.1_Frame_Shift_Del_p.P1008fs|SCN5A_ENST00000449557.2_Frame_Shift_Del_p.P1008fs|SCN5A_ENST00000450102.2_Frame_Shift_Del_p.P1008fs|SCN5A_ENST00000425664.1_Frame_Shift_Del_p.P1008fs|SCN5A_ENST00000455624.2_Frame_Shift_Del_p.P1008fs|SCN5A_ENST00000443581.1_Frame_Shift_Del_p.P1008fs|SCN5A_ENST00000423572.2_Frame_Shift_Del_p.P1008fs			Q14524	SCN5A_HUMAN	sodium channel, voltage-gated, type V, alpha subunit	1008					AV node cell to bundle of His cell communication (GO:0086067)|brainstem development (GO:0003360)|bundle of His cell to Purkinje myocyte communication (GO:0086069)|cardiac muscle cell action potential involved in contraction (GO:0086002)|cardiac muscle contraction (GO:0060048)|cardiac ventricle development (GO:0003231)|cellular response to calcium ion (GO:0071277)|cerebellum development (GO:0021549)|membrane depolarization (GO:0051899)|membrane depolarization during action potential (GO:0086010)|membrane depolarization during cardiac muscle cell action potential (GO:0086012)|membrane depolarization during SA node cell action potential (GO:0086046)|neuronal action potential (GO:0019228)|odontogenesis of dentin-containing tooth (GO:0042475)|positive regulation of action potential (GO:0045760)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of sodium ion transport (GO:0010765)|regulation of atrial cardiac muscle cell membrane depolarization (GO:0060371)|regulation of atrial cardiac muscle cell membrane repolarization (GO:0060372)|regulation of cardiac muscle cell contraction (GO:0086004)|regulation of heart rate (GO:0002027)|regulation of heart rate by cardiac conduction (GO:0086091)|regulation of sodium ion transmembrane transport (GO:1902305)|regulation of ventricular cardiac muscle cell membrane depolarization (GO:0060373)|regulation of ventricular cardiac muscle cell membrane repolarization (GO:0060307)|response to denervation involved in regulation of muscle adaptation (GO:0014894)|SA node cell to atrial cardiac muscle cell communication (GO:0086070)|sodium ion transmembrane transport (GO:0035725)|sodium ion transport (GO:0006814)|telencephalon development (GO:0021537)|ventricular cardiac muscle cell action potential (GO:0086005)	caveola (GO:0005901)|cell surface (GO:0009986)|endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)|intercalated disc (GO:0014704)|lateral plasma membrane (GO:0016328)|plasma membrane (GO:0005886)|sarcolemma (GO:0042383)|T-tubule (GO:0030315)|voltage-gated sodium channel complex (GO:0001518)	ankyrin binding (GO:0030506)|calmodulin binding (GO:0005516)|enzyme binding (GO:0019899)|fibroblast growth factor binding (GO:0017134)|ion channel binding (GO:0044325)|nitric-oxide synthase binding (GO:0050998)|protein kinase binding (GO:0019901)|scaffold protein binding (GO:0097110)|ubiquitin protein ligase binding (GO:0031625)|voltage-gated sodium channel activity (GO:0005248)|voltage-gated sodium channel activity involved in cardiac muscle cell action potential (GO:0086006)			NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107	Medulloblastoma(35;0.163)			KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	Ajmaline(DB01426)|Aprindine(DB01429)|Benzonatate(DB00868)|Carbamazepine(DB00564)|Cinchocaine(DB00527)|Cocaine(DB00907)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lidocaine(DB00281)|Mexiletine(DB00379)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine barbiturate(DB01346)|Quinidine(DB00908)|Ranolazine(DB00243)|Riluzole(DB00740)|Tocainide(DB01056)|Valproic Acid(DB00313)|Verapamil(DB00661)|Zonisamide(DB00909)	GCGGGGAGTAGGGGGTGGCAA	0.687																																						ENST00000413689.1																			0				NS(3)|breast(2)|central_nervous_system(3)|cervix(2)|endometrium(10)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(25)|lung(27)|ovary(6)|pancreas(3)|prostate(10)|skin(9)|upper_aerodigestive_tract(4)	107						c.(3022-3024)ccfs		sodium channel, voltage-gated, type V, alpha subunit	Benzonatate(DB00868)|Bepridil(DB01244)|Carbamazepine(DB00564)|Cocaine(DB00907)|Dibucaine(DB00527)|Disopyramide(DB00280)|Encainide(DB01228)|Ethotoin(DB00754)|Flecainide(DB01195)|Fosphenytoin(DB01320)|Hexylcaine(DB00473)|Indecainide(DB00192)|Lamotrigine(DB00555)|Lidocaine(DB00281)|Mephenytoin(DB00532)|Mexiletine(DB00379)|Mibefradil(DB01388)|Moricizine(DB00680)|Oxcarbazepine(DB00776)|Phenytoin(DB00252)|Prilocaine(DB00750)|Procainamide(DB01035)|Propafenone(DB01182)|Quinidine(DB00908)|Riluzole(DB00740)|Tocainide(DB01056)|Verapamil(DB00661)						15.0	17.0	16.0					3																	38622626		1936	4120	6056	SO:0001589	frameshift_variant	6331				blood circulation|cellular response to calcium ion|muscle contraction|regulation of heart contraction	sarcolemma|voltage-gated sodium channel complex	protein binding|voltage-gated sodium channel activity	g.chr3:38622626delG	AJ310893	CCDS46796.1, CCDS46797.1, CCDS46798.1, CCDS46799.1, CCDS54569.1, CCDS54570.1	3p21	2014-09-17	2007-01-23		ENSG00000183873	ENSG00000183873		"""Sodium channels"", ""Voltage-gated ion channels / Sodium channels"""	10593	protein-coding gene	gene with protein product	"""long QT syndrome 3"""	600163	"""sodium channel, voltage-gated, type V, alpha (long QT syndrome 3)"""	CMD1E		7842012, 15466643, 16382098	Standard	NM_198056		Approved	Nav1.5, LQT3, HB1, HBBD, PFHB1, IVF, HB2, HH1, SSS1, CDCD2, CMPD2, ICCD	uc021wvl.1	Q14524	OTTHUMG00000156166	ENST00000333535.4:c.3024delC	3.37:g.38622626delG	ENSP00000328968:p.Pro1008fs					SCN5A_ENST00000443581.1_Frame_Shift_Del_p.P1008fs|SCN5A_ENST00000425664.1_Frame_Shift_Del_p.P1008fs|SCN5A_ENST00000423572.2_Frame_Shift_Del_p.P1008fs|SCN5A_ENST00000414099.2_Frame_Shift_Del_p.P1008fs|SCN5A_ENST00000455624.2_Frame_Shift_Del_p.P1008fs|SCN5A_ENST00000451551.2_Frame_Shift_Del_p.P1008fs|SCN5A_ENST00000333535.4_Frame_Shift_Del_p.P1008fs|SCN5A_ENST00000450102.2_Frame_Shift_Del_p.P1008fs|SCN5A_ENST00000449557.2_Frame_Shift_Del_p.P1008fs	p.P1008fs	NM_001099404.1|NM_001160160.1	NP_001092874.1|NP_001153632.1	Q14524	SCN5A_HUMAN		KIRC - Kidney renal clear cell carcinoma(284;0.0822)|Kidney(284;0.1)	17	3217	-	Medulloblastoma(35;0.163)		1008					A5H1P8|A6N922|A6N923|B2RTU0|E7ET19|E9PEF3|E9PEK2|E9PFW7|Q59H93|Q75RX9|Q75RY0|Q86UR3|Q8IZC9|Q96J69	Frame_Shift_Del	DEL	ENST00000333535.4	37	c.3024delC	CCDS46796.1																																																																																				0.687	SCN5A-014	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000377958.1	NM_198056		12	7						12	7	---	---	---	---
PVRL3	25945	broad.mit.edu	37	3	110852821	110852822	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr3:110852821_110852822insA	ENST00000485303.1	+	6	1684_1685	c.1409_1410insA	c.(1408-1413)gtaaaafs	p.VK470fs	PVRL3_ENST00000493615.1_Intron|PVRL3_ENST00000319792.3_3'UTR	NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN	poliovirus receptor-related 3	470					adherens junction organization (GO:0034332)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|fertilization (GO:0009566)|homophilic cell adhesion (GO:0007156)|lens morphogenesis in camera-type eye (GO:0002089)|retina morphogenesis in camera-type eye (GO:0060042)|single organismal cell-cell adhesion (GO:0016337)	apical junction complex (GO:0043296)|cell-cell adherens junction (GO:0005913)|integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)|postsynaptic membrane (GO:0045211)	cell adhesion molecule binding (GO:0050839)|protein homodimerization activity (GO:0042803)			breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						CCAGACAGTGTAAAAAAAGAAA	0.337																																						ENST00000485303.1																			0				breast(1)|cervix(1)|endometrium(1)|kidney(3)|large_intestine(3)|lung(7)|upper_aerodigestive_tract(3)	19						c.(1408-1410)gaafs		poliovirus receptor-related 3																																				SO:0001589	frameshift_variant	25945				adherens junction organization|cell junction assembly|homophilic cell adhesion	integral to membrane	cell adhesion molecule binding|protein homodimerization activity	g.chr3:110852821_110852822insA	AF282874	CCDS2957.1, CCDS58842.1, CCDS58843.1	3q13	2013-01-29			ENSG00000177707	ENSG00000177707		"""CD molecules"", ""Immunoglobulin superfamily / V-set domain containing"", ""Immunoglobulin superfamily / I-set domain containing"", ""Immunoglobulin superfamily / C2-set domain containing"", ""Immunoglobulin superfamily / Immunoglobulin-like domain containing"""	17664	protein-coding gene	gene with protein product		607147				11024295	Standard	NM_015480		Approved	nectin-3, PPR3, PVRR3, DKFZP566B0846, CDw113, CD113	uc003dxt.2	Q9NQS3	OTTHUMG00000159239	ENST00000485303.1:c.1416dupA	3.37:g.110852828_110852828dupA	ENSP00000418070:p.Val470fs					PVRL3_ENST00000493615.1_Intron|PVRL3_ENST00000319792.3_3'UTR	p.E470fs	NM_001243286.1|NM_015480.2	NP_001230215.1|NP_056295.1	Q9NQS3	PVRL3_HUMAN			6	1684_1685	+			470					E9PFR0|Q6NVZ3|Q8NC05|Q8WVU4|Q9BVA9|Q9Y412	Frame_Shift_Ins	INS	ENST00000485303.1	37	c.1409_1410insA	CCDS2957.1																																																																																				0.337	PVRL3-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000354045.1	NM_015480		16	21						16	21	---	---	---	---
COL6A6	131873	broad.mit.edu	37	3	130318621	130318621	+	Frame_Shift_Del	DEL	C	C	-	rs112135798	byFrequency	TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr3:130318621delC	ENST00000358511.6	+	19	4651	c.4620delC	c.(4618-4620)ggcfs	p.G1540fs	COL6A6_ENST00000453409.2_Frame_Shift_Del_p.G1540fs	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN	collagen, type VI, alpha 6	1540	Triple-helical region.				cell adhesion (GO:0007155)|collagen catabolic process (GO:0030574)|extracellular matrix disassembly (GO:0022617)|extracellular matrix organization (GO:0030198)	collagen trimer (GO:0005581)|extracellular matrix (GO:0031012)|extracellular region (GO:0005576)|proteinaceous extracellular matrix (GO:0005578)				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						GCTGGCCAGGCCCCCCCGGGA	0.498																																						ENST00000358511.6																			0				NS(2)|breast(5)|central_nervous_system(1)|endometrium(8)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(30)|lung(57)|ovary(8)|pancreas(1)|prostate(2)|skin(1)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(2)	134						c.(4618-4620)ggfs		collagen, type VI, alpha 6				2,3548		0,2,1773	48.0	52.0	51.0			5.8	1.0	3		51	4,7842		0,4,3919	no	frameshift	COL6A6	NM_001102608.1		0,6,5692	A1A1,A1R,RR		0.051,0.0563,0.0527			130318621	6,11390	1860	4105	5965	SO:0001589	frameshift_variant	131873				axon guidance|cell adhesion	collagen		g.chr3:130318621delC	AL713792	CCDS46911.1	3q22.1	2013-01-16			ENSG00000206384	ENSG00000206384		"""Collagens"""	27023	protein-coding gene	gene with protein product							Standard	NM_001102608		Approved		uc010htl.3	A6NMZ7	OTTHUMG00000159653	ENST00000358511.6:c.4620delC	3.37:g.130318621delC	ENSP00000351310:p.Gly1540fs					COL6A6_ENST00000453409.2_Frame_Shift_Del_p.G1540fs	p.G1540fs	NM_001102608.1	NP_001096078.1	A6NMZ7	CO6A6_HUMAN			19	4651	+			1540			Triple-helical region.		A7DZQ0|A7DZQ1|A7DZQ2|Q69YT0	Frame_Shift_Del	DEL	ENST00000358511.6	37	c.4620delC	CCDS46911.1																																																																																				0.498	COL6A6-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000356705.5	NM_001102608		19	53						19	53	---	---	---	---
BCL6	604	broad.mit.edu	37	3	187447317	187447317	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr3:187447317delG	ENST00000406870.2	-	5	1242	c.876delC	c.(874-876)cccfs	p.P292fs	BCL6_ENST00000450123.2_Frame_Shift_Del_p.P292fs|RP11-211G3.3_ENST00000449623.1_Intron|BCL6_ENST00000232014.4_Frame_Shift_Del_p.P292fs|RP11-211G3.3_ENST00000437407.1_Intron	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	B-cell CLL/lymphoma 6	292					actin cytoskeleton organization (GO:0030036)|B cell differentiation (GO:0030183)|cell morphogenesis (GO:0000902)|cellular response to DNA damage stimulus (GO:0006974)|erythrocyte development (GO:0048821)|germinal center formation (GO:0002467)|inflammatory response (GO:0006954)|negative regulation of B cell apoptotic process (GO:0002903)|negative regulation of cell growth (GO:0030308)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of isotype switching to IgE isotypes (GO:0048294)|negative regulation of mast cell cytokine production (GO:0032764)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of T-helper 2 cell differentiation (GO:0045629)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|negative regulation of type 2 immune response (GO:0002829)|positive regulation of apoptotic process (GO:0043065)|positive regulation of B cell proliferation (GO:0030890)|positive regulation of cellular component movement (GO:0051272)|protein import into nucleus, translocation (GO:0000060)|regulation of germinal center formation (GO:0002634)|regulation of immune response (GO:0050776)|regulation of inflammatory response (GO:0050727)|regulation of memory T cell differentiation (GO:0043380)|regulation of Rho GTPase activity (GO:0032319)|Rho protein signal transduction (GO:0007266)|spermatogenesis (GO:0007283)|type 2 immune response (GO:0042092)	nucleus (GO:0005634)	chromatin binding (GO:0003682)|chromatin DNA binding (GO:0031490)|metal ion binding (GO:0046872)|RNA polymerase II regulatory region sequence-specific DNA binding (GO:0000977)|RNA polymerase II transcription regulatory region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001227)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)		AAGGGAAGTAGGGGGCATTTC	0.557			"""T, Mis"""	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""	"""NHL, CLL"""																																	ENST00000406870.2				Dom	yes		3	3q27	604	"""T, Mis"""	B-cell CLL/lymphoma 6			L	"""IG loci, ZNFN1A1, LCP1, PIM1, TFRC, CIITA, NACA, HSPCB, HSPCA, HIST1H4I, IL21R,  POU2AF1, ARHH, EIF4A2, SFRS3"""		"""NHL, CLL"""		0				central_nervous_system(2)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(9)|lung(10)|ovary(3)|prostate(4)|skin(1)|upper_aerodigestive_tract(1)	40						c.(874-876)ccfs		B-cell CLL/lymphoma 6							81.0	90.0	87.0					3																	187447317		2203	4300	6503	SO:0001589	frameshift_variant	604				negative regulation of B cell apoptosis|negative regulation of cell growth|negative regulation of S phase of mitotic cell cycle|negative regulation of transcription from RNA polymerase II promoter|positive regulation of apoptosis|protein import into nucleus, translocation|regulation of germinal center formation|response to DNA damage stimulus	nucleus	protein binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr3:187447317delG		CCDS3289.1, CCDS46975.1	3q27	2013-01-09	2008-08-01		ENSG00000113916	ENSG00000113916		"""-"", ""Zinc fingers, C2H2-type"", ""BTB/POZ domain containing"""	1001	protein-coding gene	gene with protein product		109565	"""zinc finger protein 51"""	ZNF51			Standard	NM_001130845		Approved	ZBTB27, LAZ3, BCL5, BCL6A	uc003frq.2	P41182	OTTHUMG00000156441	ENST00000406870.2:c.876delC	3.37:g.187447317delG	ENSP00000384371:p.Pro292fs					BCL6_ENST00000232014.4_Frame_Shift_Del_p.P292fs|BCL6_ENST00000450123.2_Frame_Shift_Del_p.P292fs|RP11-211G3.3_ENST00000449623.1_Intron|RP11-211G3.3_ENST00000437407.1_Intron	p.P292fs	NM_001706.4	NP_001697.2	P41182	BCL6_HUMAN	OV - Ovarian serous cystadenocarcinoma(80;1.76e-18)	GBM - Glioblastoma multiforme(93;0.0141)	5	1242	-	all_cancers(143;9.45e-12)|Ovarian(172;0.0418)		292					A7E241|B8PSA7|D3DNV5	Frame_Shift_Del	DEL	ENST00000406870.2	37	c.876delC	CCDS3289.1																																																																																				0.557	BCL6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000344202.1	NM_138931		47	131						47	131	---	---	---	---
ATP13A3	79572	broad.mit.edu	37	3	194140669	194140669	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr3:194140669delA	ENST00000439040.1	-	31	4132	c.3341delT	c.(3340-3342)ttafs	p.L1114fs	ATP13A3_ENST00000256031.4_Frame_Shift_Del_p.L1114fs			Q9H7F0	AT133_HUMAN	ATPase type 13A3	1114						integral component of membrane (GO:0016021)|membrane (GO:0016020)	ATP binding (GO:0005524)|cation-transporting ATPase activity (GO:0019829)|metal ion binding (GO:0046872)			NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)		aaaaatatataaaaaaatCAC	0.299																																						ENST00000439040.1																			0				NS(2)|endometrium(3)|kidney(3)|large_intestine(2)|lung(10)|ovary(1)|prostate(1)|skin(1)|urinary_tract(1)	24						c.(3340-3342)tafs		ATPase type 13A3							22.0	21.0	21.0					3																	194140669		1772	4044	5816	SO:0001589	frameshift_variant	79572				ATP biosynthetic process|cation transport	integral to membrane	ATP binding|ATPase activity, coupled to transmembrane movement of ions, phosphorylative mechanism|metal ion binding	g.chr3:194140669delA	AJ306929	CCDS43187.1	3q29	2010-04-20			ENSG00000133657	ENSG00000133657		"""ATPases / P-type"""	24113	protein-coding gene	gene with protein product	"""ATPase family homolog up regulated in senescence cells"""	610232				11867234	Standard	NM_024524		Approved	AFURS1	uc003fty.4	Q9H7F0	OTTHUMG00000156034	ENST00000439040.1:c.3341delT	3.37:g.194140669delA	ENSP00000416508:p.Leu1114fs					ATP13A3_ENST00000256031.4_Frame_Shift_Del_p.L1114fs	p.L1114fs			Q9H7F0	AT133_HUMAN	OV - Ovarian serous cystadenocarcinoma(49;3.83e-18)|LUSC - Lung squamous cell carcinoma(58;3.55e-06)|Lung(62;4.19e-06)	GBM - Glioblastoma multiforme(46;5.98e-05)	31	4132	-	all_cancers(143;6.01e-09)|Ovarian(172;0.0634)	Melanoma(1037;0.211)	1114					Q8NC11|Q96KS1	Frame_Shift_Del	DEL	ENST00000439040.1	37	c.3341delT	CCDS43187.1																																																																																				0.299	ATP13A3-001	KNOWN	not_organism_supported|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000342799.2	NM_024524		15	39						15	39	---	---	---	---
GABRG1	2565	broad.mit.edu	37	4	46060624	46060624	+	Frame_Shift_Del	DEL	T	T	-	rs184497238		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr4:46060624delT	ENST00000295452.4	-	6	808	c.641delA	c.(640-642)aatfs	p.N214fs		NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN	gamma-aminobutyric acid (GABA) A receptor, gamma 1	214					gamma-aminobutyric acid signaling pathway (GO:0007214)|synaptic transmission (GO:0007268)	cell junction (GO:0030054)|chloride channel complex (GO:0034707)|postsynaptic membrane (GO:0045211)|receptor complex (GO:0043235)	chloride channel activity (GO:0005254)|extracellular ligand-gated ion channel activity (GO:0005230)|GABA-A receptor activity (GO:0004890)			breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76				Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	Acamprosate(DB00659)|Adinazolam(DB00546)|Alprazolam(DB00404)|Amoxapine(DB00543)|Bromazepam(DB01558)|Butabarbital(DB00237)|Butalbital(DB00241)|Chlordiazepoxide(DB00475)|Cinolazepam(DB01594)|Clobazam(DB00349)|Clonazepam(DB01068)|Clorazepate(DB00628)|Clotiazepam(DB01559)|Desflurane(DB01189)|Diazepam(DB00829)|Enflurane(DB00228)|Ergoloid mesylate(DB01049)|Estazolam(DB01215)|Eszopiclone(DB00402)|Ethchlorvynol(DB00189)|Etomidate(DB00292)|Fludiazepam(DB01567)|Flumazenil(DB01205)|Flurazepam(DB00690)|Glutethimide(DB01437)|Halazepam(DB00801)|Halothane(DB01159)|Isoflurane(DB00753)|Ketazolam(DB01587)|Lorazepam(DB00186)|Meprobamate(DB00371)|Methoxyflurane(DB01028)|Methyprylon(DB01107)|Midazolam(DB00683)|Nitrazepam(DB01595)|Olanzapine(DB00334)|Oxazepam(DB00842)|Pentobarbital(DB00312)|Prazepam(DB01588)|Primidone(DB00794)|Propofol(DB00818)|Quazepam(DB01589)|Sevoflurane(DB01236)|Talbutal(DB00306)|Temazepam(DB00231)|Topiramate(DB00273)|Triazolam(DB00897)	CTCAATTTCATTTTTAGGGTA	0.353																																						ENST00000295452.4																			0				breast(2)|central_nervous_system(5)|endometrium(3)|kidney(4)|large_intestine(11)|liver(1)|lung(37)|ovary(2)|prostate(5)|skin(2)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	76						c.(640-642)atfs		gamma-aminobutyric acid (GABA) A receptor, gamma 1							54.0	53.0	54.0					4																	46060624		2203	4299	6502	SO:0001589	frameshift_variant	2565				gamma-aminobutyric acid signaling pathway	cell junction|chloride channel complex|postsynaptic membrane	chloride channel activity|extracellular ligand-gated ion channel activity	g.chr4:46060624delT	BC031087	CCDS3470.1	4p12	2012-06-22			ENSG00000163285	ENSG00000163285		"""GABA receptors"", ""Ligand-gated ion channels / GABA(A) receptors"""	4086	protein-coding gene	gene with protein product	"""GABA(A) receptor, gamma"""	137166				1321425	Standard	NM_173536		Approved		uc003gxb.3	Q8N1C3	OTTHUMG00000128609	ENST00000295452.4:c.641delA	4.37:g.46060624delT	ENSP00000295452:p.Asn214fs						p.N214fs	NM_173536.3	NP_775807.2	Q8N1C3	GBRG1_HUMAN		Lung(65;0.106)|LUSC - Lung squamous cell carcinoma(721;0.23)	6	808	-			214					Q5H9T8	Frame_Shift_Del	DEL	ENST00000295452.4	37	c.641delA	CCDS3470.1																																																																																				0.353	GABRG1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250470.1	NM_173536		14	18						14	18	---	---	---	---
NPFFR2	10886	broad.mit.edu	37	4	73013438	73013438	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr4:73013438delA	ENST00000308744.6	+	4	1576	c.1478delA	c.(1477-1479)gaafs	p.E493fs	NPFFR2_ENST00000358749.3_Frame_Shift_Del_p.E391fs|NPFFR2_ENST00000395999.1_Frame_Shift_Del_p.E394fs|NPFFR2_ENST00000344413.5_3'UTR|NPFFR2_ENST00000506359.1_3'UTR	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	neuropeptide FF receptor 2	493					detection of abiotic stimulus (GO:0009582)|G-protein coupled receptor signaling pathway (GO:0007186)|regulation of adenylate cyclase activity (GO:0045761)|regulation of cAMP-dependent protein kinase activity (GO:2000479)|regulation of MAPK cascade (GO:0043408)	actin cytoskeleton (GO:0015629)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|neuropeptide receptor activity (GO:0008188)			NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43			Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)			CCTCATGGGGAAACCTTGCTT	0.378																																						ENST00000308744.6																			0				NS(1)|central_nervous_system(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|kidney(2)|large_intestine(5)|lung(24)|ovary(2)|upper_aerodigestive_tract(2)|urinary_tract(1)	43						c.(1477-1479)gafs		neuropeptide FF receptor 2							67.0	73.0	71.0					4																	73013438		2203	4300	6503	SO:0001589	frameshift_variant	10886				detection of abiotic stimulus	actin cytoskeleton|integral to plasma membrane	neuropeptide receptor activity	g.chr4:73013438delA	AF236083	CCDS3551.1, CCDS3552.1, CCDS47072.1	4q21	2012-08-10	2006-02-15	2006-02-15	ENSG00000056291	ENSG00000056291		"""GPCR / Class A :  Neuropeptide receptors : FF/AF"", ""GPCR / Class A : RF amide peptide receptors"""	4525	protein-coding gene	gene with protein product	"""neuropeptide FF 2"""	607449	"""G protein-coupled receptor 74"""	GPR74		10079187, 10851242	Standard	NM_001144756		Approved	NPFF2, NPGPR	uc003hgg.2	Q9Y5X5	OTTHUMG00000129918	ENST00000308744.6:c.1478delA	4.37:g.73013438delA	ENSP00000307822:p.Glu493fs					NPFFR2_ENST00000344413.5_3'UTR|NPFFR2_ENST00000395999.1_Frame_Shift_Del_p.E394fs|NPFFR2_ENST00000506359.1_3'UTR|NPFFR2_ENST00000358749.3_Frame_Shift_Del_p.E391fs	p.E493fs	NM_004885.2	NP_004876.2	Q9Y5X5	NPFF2_HUMAN	Lung(101;0.0935)|LUSC - Lung squamous cell carcinoma(112;0.138)		4	1576	+			493					Q96RV1|Q9NR49	Frame_Shift_Del	DEL	ENST00000308744.6	37	c.1478delA	CCDS3551.1																																																																																				0.378	NPFFR2-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000252170.2	NM_004885		37	78						37	78	---	---	---	---
UNC5C	8633	broad.mit.edu	37	4	96171725	96171725	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr4:96171725delG	ENST00000453304.1	-	5	1036	c.688delC	c.(688-690)cgafs	p.R230fs	UNC5C_ENST00000504962.1_Frame_Shift_Del_p.R230fs|UNC5C_ENST00000506749.1_Frame_Shift_Del_p.R230fs	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN	unc-5 homolog C (C. elegans)	230	Ig-like C2-type.				anterior/posterior axon guidance (GO:0033564)|apoptotic process (GO:0006915)|axon guidance (GO:0007411)|brain development (GO:0007420)|positive regulation of apoptotic process (GO:0043065)|regulation of cell migration (GO:0030334)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	netrin receptor activity (GO:0005042)			NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55		Hepatocellular(203;0.114)		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)		TCAGAGAGTCGGGCCTGCTTT	0.398																																						ENST00000453304.1																			0				NS(1)|breast(2)|endometrium(2)|kidney(1)|large_intestine(14)|lung(25)|ovary(3)|pancreas(1)|prostate(1)|skin(3)|stomach(1)|upper_aerodigestive_tract(1)	55						c.(688-690)gafs		unc-5 homolog C (C. elegans)							188.0	184.0	185.0					4																	96171725		2203	4300	6503	SO:0001589	frameshift_variant	8633				apoptosis|axon guidance|brain development	integral to membrane	netrin receptor activity	g.chr4:96171725delG	AF055634	CCDS3643.1	4q21-q23	2013-01-11	2001-11-28		ENSG00000182168	ENSG00000182168		"""Immunoglobulin superfamily / I-set domain containing"""	12569	protein-coding gene	gene with protein product		603610	"""unc5 (C.elegans homolog) c"""			9126742, 9782087	Standard	NM_003728		Approved		uc003hto.3	O95185	OTTHUMG00000130989	ENST00000453304.1:c.688delC	4.37:g.96171725delG	ENSP00000406022:p.Arg230fs					UNC5C_ENST00000504962.1_Frame_Shift_Del_p.R230fs|UNC5C_ENST00000506749.1_Frame_Shift_Del_p.R230fs	p.R230fs	NM_003728.3	NP_003719.3	O95185	UNC5C_HUMAN		OV - Ovarian serous cystadenocarcinoma(123;8.72e-10)	5	1036	-		Hepatocellular(203;0.114)	230			Ig-like C2-type.		Q8IUT0	Frame_Shift_Del	DEL	ENST00000453304.1	37	c.688delC	CCDS3643.1																																																																																				0.398	UNC5C-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253607.1	NM_003728		52	166						52	166	---	---	---	---
ABCE1	6059	broad.mit.edu	37	4	146041093	146041093	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr4:146041093delT	ENST00000296577.4	+	11	1447	c.932delT	c.(931-933)attfs	p.I311fs	OTUD4_ENST00000455611.2_Intron|ABCE1_ENST00000502803.1_3'UTR	NM_001040876.1|NM_002940.2	NP_001035809.1|NP_002931.2	P61221	ABCE1_HUMAN	ATP-binding cassette, sub-family E (OABP), member 1	311	ABC transporter 1. {ECO:0000255|PROSITE- ProRule:PRU00434}.				negative regulation of catalytic activity (GO:0043086)|response to virus (GO:0009615)|RNA catabolic process (GO:0006401)|viral process (GO:0016032)	cytoplasm (GO:0005737)|membrane (GO:0016020)|mitochondrion (GO:0005739)	ATP binding (GO:0005524)|ATPase activity (GO:0016887)|iron-sulfur cluster binding (GO:0051536)|ribonuclease inhibitor activity (GO:0008428)			endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18	all_hematologic(180;0.151)					GGCATAAACATTTTTTTGGAT	0.358																																						ENST00000296577.4																			0				endometrium(3)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|lung(5)|prostate(2)|skin(3)	18						c.(931-933)atfs		ATP-binding cassette, sub-family E (OABP), member 1							37.0	37.0	37.0					4																	146041093		2203	4299	6502	SO:0001589	frameshift_variant	6059				interspecies interaction between organisms|response to virus|RNA catabolic process	mitochondrion	ATP binding|ATPase activity|electron carrier activity|iron-sulfur cluster binding|ribonuclease inhibitor activity	g.chr4:146041093delT	X74987	CCDS34071.1	4q31	2012-03-14			ENSG00000164163	ENSG00000164163		"""ATP binding cassette transporters / subfamily E"""	69	protein-coding gene	gene with protein product		601213		RNASEL1, RNASELI, RNS4I		7539425	Standard	NM_002940		Approved	RLI, OABP	uc003ijy.3	P61221	OTTHUMG00000161478	ENST00000296577.4:c.932delT	4.37:g.146041093delT	ENSP00000296577:p.Ile311fs					OTUD4_ENST00000455611.2_Intron|ABCE1_ENST00000502803.1_3'UTR	p.I311fs	NM_001040876.1|NM_002940.2	NP_001035809.1|NP_002931.2	P61221	ABCE1_HUMAN			11	1447	+	all_hematologic(180;0.151)		311			ABC transporter 1.		O88793|Q13181|Q13864|Q6NR76|Q96AL0|Q96B10|Q99K66	Frame_Shift_Del	DEL	ENST00000296577.4	37	c.932delT	CCDS34071.1																																																																																				0.358	ABCE1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365104.1	NM_002940		13	31						13	31	---	---	---	---
PDGFC	56034	broad.mit.edu	37	4	157694008	157694008	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr4:157694008delG	ENST00000502773.1	-	4	1023	c.533delC	c.(532-534)cctfs	p.P178fs	PDGFC_ENST00000541126.1_Frame_Shift_Del_p.P15fs|PDGFC_ENST00000542208.1_Frame_Shift_Del_p.P23fs|PDGFC_ENST00000504672.1_5'UTR|PDGFC_ENST00000422544.2_Frame_Shift_Del_p.P178fs	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN	platelet derived growth factor C	178					activation of transmembrane receptor protein tyrosine kinase activity (GO:0007171)|cellular response to amino acid stimulus (GO:0071230)|central nervous system development (GO:0007417)|organ morphogenesis (GO:0009887)|platelet-derived growth factor receptor signaling pathway (GO:0048008)|positive regulation of cell division (GO:0051781)|positive regulation of DNA replication (GO:0045740)|positive regulation of fibroblast proliferation (GO:0048146)|regulation of peptidyl-tyrosine phosphorylation (GO:0050730)	cell surface (GO:0009986)|cytoplasm (GO:0005737)|endoplasmic reticulum lumen (GO:0005788)|extracellular region (GO:0005576)|extracellular space (GO:0005615)|extracellular vesicular exosome (GO:0070062)|Golgi membrane (GO:0000139)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	platelet-derived growth factor receptor binding (GO:0005161)|protein homodimerization activity (GO:0042803)			central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19	all_hematologic(180;0.24)	Renal(120;0.0458)		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)		CAAAGCTGAAGGGGGTAGCAC	0.413																																						ENST00000502773.1																			0				central_nervous_system(1)|cervix(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(6)|ovary(1)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(532-534)ctfs		platelet derived growth factor C							102.0	103.0	103.0					4																	157694008		2203	4300	6503	SO:0001589	frameshift_variant	56034				central nervous system development|platelet-derived growth factor receptor signaling pathway|positive regulation of cell division|positive regulation of DNA replication|positive regulation of fibroblast proliferation|vascular endothelial growth factor receptor signaling pathway	endoplasmic reticulum lumen|extracellular space|Golgi membrane|nucleus	cell surface binding|growth factor activity|platelet-derived growth factor receptor binding|protein homodimerization activity	g.chr4:157694008delG	AF091434	CCDS3795.1	4q32	2008-02-05			ENSG00000145431	ENSG00000145431			8801	protein-coding gene	gene with protein product		608452				10858496, 10858548	Standard	NM_016205		Approved	SCDGF, fallotein	uc003iph.2	Q9NRA1	OTTHUMG00000161803	ENST00000502773.1:c.533delC	4.37:g.157694008delG	ENSP00000422464:p.Pro178fs					PDGFC_ENST00000504672.1_5'UTR|PDGFC_ENST00000542208.1_Frame_Shift_Del_p.P23fs|PDGFC_ENST00000541126.1_Frame_Shift_Del_p.P15fs|PDGFC_ENST00000422544.2_Frame_Shift_Del_p.P178fs	p.P178fs	NM_016205.2	NP_057289.1	Q9NRA1	PDGFC_HUMAN		KIRC - Kidney renal clear cell carcinoma(143;0.08)|Kidney(143;0.0977)|COAD - Colon adenocarcinoma(41;0.212)	4	1023	-	all_hematologic(180;0.24)	Renal(120;0.0458)	178					B4DU34|B9EGR8|Q4W5M9|Q9UL22	Frame_Shift_Del	DEL	ENST00000502773.1	37	c.533delC	CCDS3795.1																																																																																				0.413	PDGFC-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000366123.1			31	72						31	72	---	---	---	---
FAM198B	51313	broad.mit.edu	37	4	159091486	159091487	+	Intron	INS	-	-	GCT	rs370831945		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr4:159091486_159091487insGCT	ENST00000296530.8	-	2	1532				FAM198B_ENST00000592057.1_3'UTR|FAM198B_ENST00000589306.1_Intron|RP11-597D13.9_ENST00000503611.1_RNA|FAM198B_ENST00000585682.1_Intron|RP11-597D13.9_ENST00000514381.1_RNA|RP11-597D13.9_ENST00000505532.1_RNA|FAM198B_ENST00000393807.5_In_Frame_Ins_p.308_308A>AA|RP11-597D13.9_ENST00000509463.1_RNA	NM_016613.6	NP_057697.2	Q6UWH4	F198B_HUMAN	family with sequence similarity 198, member B							Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						TGGAAAGACACGCTGCTGCTGC	0.455																																						ENST00000393807.5																			0				haematopoietic_and_lymphoid_tissue(1)|large_intestine(8)|lung(14)|skin(2)|urinary_tract(1)	26						c.(922-924)gtg>gAGCtg		family with sequence similarity 198, member B																																				SO:0001627	intron_variant	51313					Golgi membrane|integral to membrane		g.chr4:159091486_159091487insGCT		CCDS3798.1, CCDS34087.1	4q32.1	2012-11-29	2009-10-19	2009-10-19	ENSG00000164125	ENSG00000164125			25312	protein-coding gene	gene with protein product			"""chromosome 4 open reading frame 18"""	C4orf18		12975309	Standard	NM_001031700		Approved	FLJ38155, DKFZp434L142	uc003ipr.4	Q6UWH4	OTTHUMG00000161537	ENST00000296530.8:c.910+130->AGC	4.37:g.159091493_159091495dupGCT						FAM198B_ENST00000585682.1_Intron|FAM198B_ENST00000592057.1_3'UTR|FAM198B_ENST00000589306.1_Intron|FAM198B_ENST00000296530.8_Intron	p.308_308V>EL	NM_001031700.2	NP_001026870.2	Q6UWH4	F198B_HUMAN			3	1329_1330	-			308					Q498Z3|Q6IAF9|Q6ZMF2|Q86XL0	In_Frame_Ins	INS	ENST00000296530.8	37	c.923_924insAGC	CCDS3798.1																																																																																				0.455	FAM198B-004	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000365230.1	NM_001031700, NM_016613		10	31						10	31	---	---	---	---
F11-AS1	285441	broad.mit.edu	37	4	187250454	187250454	+	RNA	DEL	C	C	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr4:187250454delC	ENST00000505103.1	-	0	153					NR_033900.1				F11 antisense RNA 1																		TCTTGTCACACCCCCCGGGAA	0.507																																						ENST00000505103.1																			0																																																			285441							g.chr4:187250454delC	BC038717		4q35.2	2013-09-17			ENSG00000251165	ENSG00000251165		"""Long non-coding RNAs"""	27725	non-coding RNA	RNA, long non-coding						12477932	Standard	NR_033900		Approved				OTTHUMG00000160319		4.37:g.187250454delC								NR_033900.1						0	153	-									RNA	DEL	ENST00000505103.1	37																																																																																						0.507	F11-AS1-004	KNOWN	basic	antisense	antisense	OTTHUMT00000360442.1			13	25						13	25	---	---	---	---
LOC285696	285696	broad.mit.edu	37	5	17202758	17202758	+	RNA	DEL	T	T	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr5:17202758delT	ENST00000399760.2	-	0	971					NR_027253.1																						tattttttaattttttttttg	0.488																																						ENST00000399760.2																			0																																																			285696							g.chr5:17202758delT																													5.37:g.17202758delT								NR_027253.1						0	971	-									RNA	DEL	ENST00000399760.2	37																																																																																						0.488	AC091878.1-001	KNOWN	basic	antisense	antisense	OTTHUMT00000253713.3			7	24						7	24	---	---	---	---
RASA1	5921	broad.mit.edu	37	5	86564680	86564680	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr5:86564680delC	ENST00000274376.6	+	1	976	c.412delC	c.(412-414)cccfs	p.P141fs	RASA1_ENST00000512763.1_5'Flank|RASA1_ENST00000456692.2_5'Flank|RASA1_ENST00000506290.1_5'Flank	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN	RAS p21 protein activator (GTPase activating protein) 1	141	Poly-Pro.				blood vessel morphogenesis (GO:0048514)|embryo development (GO:0009790)|intracellular signal transduction (GO:0035556)|mitotic cytokinesis (GO:0000281)|negative regulation of cell adhesion (GO:0007162)|negative regulation of cell-matrix adhesion (GO:0001953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of Ras protein signal transduction (GO:0046580)|positive regulation of Ras GTPase activity (GO:0032320)|regulation of actin filament polymerization (GO:0030833)|regulation of cell shape (GO:0008360)|regulation of RNA metabolic process (GO:0051252)|signal transduction (GO:0007165)|vasculogenesis (GO:0001570)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intrinsic component of the cytoplasmic side of the plasma membrane (GO:0031235)|ruffle (GO:0001726)	glycoprotein binding (GO:0001948)|GTPase binding (GO:0051020)|potassium channel inhibitor activity (GO:0019870)|Ras GTPase activator activity (GO:0005099)|receptor binding (GO:0005102)			NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)		TCCCCCTCTGCCCCCTCCCCC	0.622																																						ENST00000274376.6																			0				NS(1)|cervix(1)|endometrium(7)|kidney(4)|large_intestine(12)|lung(13)|ovary(1)|prostate(2)|skin(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	48						c.(412-414)ccfs		RAS p21 protein activator (GTPase activating protein) 1							28.0	32.0	30.0					5																	86564680		2202	4300	6502	SO:0001589	frameshift_variant	5921				cytokinesis|embryo development|intracellular signal transduction|negative regulation of cell-matrix adhesion|negative regulation of neuron apoptosis|negative regulation of Ras protein signal transduction|positive regulation of anti-apoptosis|regulation of actin filament polymerization|regulation of cell shape|regulation of RNA metabolic process|vasculogenesis	cytosol|intrinsic to internal side of plasma membrane	glycoprotein binding|GTPase binding|potassium channel inhibitor activity|Ras GTPase activator activity|receptor binding	g.chr5:86564680delC		CCDS34200.1, CCDS47243.1	5q13	2013-02-14			ENSG00000145715	ENSG00000145715		"""Pleckstrin homology (PH) domain containing"", ""SH2 domain containing"""	9871	protein-coding gene	gene with protein product	"""capillary malformation-arteriovenous malformation"""	139150		RASA		15917201	Standard	NM_022650		Approved	GAP, CM-AVM, p120GAP, p120RASGAP	uc003kiw.3	P20936	OTTHUMG00000162605	ENST00000274376.6:c.412delC	5.37:g.86564680delC	ENSP00000274376:p.Pro141fs						p.P141fs	NM_002890.2	NP_002881.1	P20936	RASA1_HUMAN		OV - Ovarian serous cystadenocarcinoma(54;4.72e-41)|Epithelial(54;1.51e-36)|all cancers(79;3.76e-31)	1	976	+		all_cancers(142;8.25e-07)|Lung NSC(167;0.000185)|all_lung(232;0.000222)|Colorectal(57;0.00542)|Ovarian(174;0.0423)	141			Poly-Pro.		B2R6W3|Q9UDI1	Frame_Shift_Del	DEL	ENST00000274376.6	37	c.412delC	CCDS34200.1																																																																																				0.622	RASA1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000369729.1	NM_002890		14	21						14	21	---	---	---	---
PCDHA5	56143	broad.mit.edu	37	5	140202219	140202219	+	Frame_Shift_Del	DEL	G	G	-	rs267600389		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr5:140202219delG	ENST00000529859.1	+	1	859	c.859delG	c.(859-861)gatfs	p.D287fs	PCDHA5_ENST00000378126.3_Frame_Shift_Del_p.D287fs|PCDHA1_ENST00000394633.3_Intron|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000529619.1_Frame_Shift_Del_p.D287fs|PCDHA4_ENST00000512229.2_Intron|PCDHA3_ENST00000522353.2_Intron|PCDHA1_ENST00000504120.2_Intron|PCDHA4_ENST00000530339.1_Intron	NM_018908.2	NP_061731.1	Q9Y5H7	PCDA5_HUMAN	protocadherin alpha 5	287	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				cell adhesion (GO:0007155)|homophilic cell adhesion (GO:0007156)|nervous system development (GO:0007399)	integral component of plasma membrane (GO:0005887)	calcium ion binding (GO:0005509)			NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)			TGTTCTTGACGATGTAAAGTC	0.318																																						ENST00000529859.1																			0				NS(1)|autonomic_ganglia(1)|breast(2)|endometrium(4)|kidney(6)|large_intestine(8)|liver(1)|lung(22)|ovary(2)|prostate(6)|skin(4)|upper_aerodigestive_tract(3)	60						c.(859-861)atfs									32.0	34.0	33.0					5																	140202219		2203	4299	6502	SO:0001589	frameshift_variant	56143							g.chr5:140202219delG	AF152483	CCDS54917.1	5q31	2010-11-26				ENSG00000204965		"""Cadherins / Protocadherins : Clustered"""	8671	other	complex locus constituent	"""ortholog of mouse CNR6"", ""KIAA0345-like 9"""	606311		CNRS6		10380929, 10662547	Standard	NM_018908		Approved	CNR6, CRNR6, CNRN6, PCDH-ALPHA5		Q9Y5H7		ENST00000529859.1:c.859delG	5.37:g.140202219delG	ENSP00000436557:p.Asp287fs					PCDHA1_ENST00000504120.2_Intron|PCDHA1_ENST00000394633.3_Intron|PCDHA4_ENST00000530339.1_Intron|PCDHA5_ENST00000529619.1_Frame_Shift_Del_p.D287fs|PCDHA2_ENST00000526136.1_Intron|PCDHA5_ENST00000378126.3_Frame_Shift_Del_p.D287fs|PCDHA3_ENST00000522353.2_Intron|PCDHA4_ENST00000512229.2_Intron	p.D287fs	NM_018908.2	NP_061731.1			KIRC - Kidney renal clear cell carcinoma(527;0.00112)|Kidney(363;0.00191)		1	859	+								O75284|Q8N4R3	Frame_Shift_Del	DEL	ENST00000529859.1	37	c.859delG	CCDS54917.1																																																																																				0.318	PCDHA5-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000372883.2	NM_018908		9	37						9	37	---	---	---	---
PCDHB13	56123	broad.mit.edu	37	5	140594607	140594607	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr5:140594607delA	ENST00000341948.4	+	1	1099	c.912delA	c.(910-912)ctafs	p.L304fs		NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	protocadherin beta 13	304	Cadherin 3. {ECO:0000255|PROSITE- ProRule:PRU00043}.				calcium-dependent cell-cell adhesion (GO:0016339)|homophilic cell adhesion (GO:0007156)|synapse assembly (GO:0007416)|synaptic transmission (GO:0007268)	integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	calcium ion binding (GO:0005509)			NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66			KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)			AAATTGAACTAAAAAAACAAC	0.388																																						ENST00000341948.4																			0				NS(1)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(4)|lung(24)|ovary(5)|pancreas(1)|skin(4)|upper_aerodigestive_tract(1)	66						c.(910-912)ctfs									91.0	96.0	95.0					5																	140594607		2203	4300	6503	SO:0001589	frameshift_variant	56123				calcium-dependent cell-cell adhesion|homophilic cell adhesion|synapse assembly|synaptic transmission	integral to membrane|plasma membrane	calcium ion binding	g.chr5:140594607delA	AF152492	CCDS4255.1	5q31	2010-01-26			ENSG00000187372	ENSG00000187372		"""Cadherins / Protocadherins : Clustered"""	8684	other	protocadherin		606339				10380929	Standard	NM_018933		Approved	PCDH-BETA13	uc003lja.1	Q9Y5F0	OTTHUMG00000129615	ENST00000341948.4:c.912delA	5.37:g.140594607delA	ENSP00000345491:p.Leu304fs						p.L304fs	NM_018933.2	NP_061756.1	Q9Y5F0	PCDBD_HUMAN	KIRC - Kidney renal clear cell carcinoma(527;0.00185)|Kidney(363;0.00339)		1	1099	+			304			Cadherin 3.		A8K9V6	Frame_Shift_Del	DEL	ENST00000341948.4	37	c.912delA	CCDS4255.1																																																																																				0.388	PCDHB13-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000251810.1	NM_018933		46	101						46	101	---	---	---	---
ADRA1B	147	broad.mit.edu	37	5	159398909	159398909	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr5:159398909delC	ENST00000306675.3	+	2	1096	c.973delC	c.(973-975)cccfs	p.P326fs		NM_000679.3	NP_000670.1	P35368	ADA1B_HUMAN	adrenoceptor alpha 1B	326					adenylate cyclase-modulating G-protein coupled receptor signaling pathway (GO:0007188)|adrenergic receptor signaling pathway (GO:0071875)|adult heart development (GO:0007512)|behavioral response to cocaine (GO:0048148)|blood vessel remodeling (GO:0001974)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|cell-cell signaling (GO:0007267)|G-protein coupled receptor signaling pathway (GO:0007186)|glucose homeostasis (GO:0042593)|intracellular signal transduction (GO:0035556)|locomotory behavior (GO:0007626)|multicellular organismal development (GO:0007275)|negative regulation of glycogen catabolic process (GO:0045818)|organ growth (GO:0035265)|positive regulation of glycogen catabolic process (GO:0045819)|positive regulation of heart rate by epinephrine-norepinephrine (GO:0001996)|positive regulation of MAPK cascade (GO:0043410)|positive regulation of the force of heart contraction by epinephrine-norepinephrine (GO:0001997)|regulation of cardiac muscle contraction (GO:0055117)|regulation of vasoconstriction (GO:0019229)|response to amphetamine (GO:0001975)|response to morphine (GO:0043278)|vasoconstriction of artery involved in baroreceptor response to lowering of systemic arterial blood pressure (GO:0001987)|visual learning (GO:0008542)	integral component of plasma membrane (GO:0005887)|nuclear membrane (GO:0031965)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	alpha1-adrenergic receptor activity (GO:0004937)|protein heterodimerization activity (GO:0046982)	p.D327fs*134(1)		endometrium(3)|large_intestine(6)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		Acepromazine(DB01614)|Alfuzosin(DB00346)|Amitriptyline(DB00321)|Amoxapine(DB00543)|Amphetamine(DB00182)|Aripiprazole(DB01238)|Bromocriptine(DB01200)|Cabergoline(DB00248)|Carvedilol(DB01136)|Chlorpromazine(DB00477)|Clonidine(DB00575)|Clozapine(DB00363)|Dapiprazole(DB00298)|Desipramine(DB01151)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Doxepin(DB01142)|Dronedarone(DB04855)|Droxidopa(DB06262)|Epinephrine(DB00668)|Ergoloid mesylate(DB01049)|Ergotamine(DB00696)|Fenoldopam(DB00800)|Imipramine(DB00458)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Loxapine(DB00408)|Maprotiline(DB00934)|Mephentermine(DB01365)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Mianserin(DB06148)|Midodrine(DB00211)|Mirtazapine(DB00370)|Modafinil(DB00745)|Nefazodone(DB01149)|Nicardipine(DB00622)|Norepinephrine(DB00368)|Nortriptyline(DB00540)|Olanzapine(DB00334)|Oxymetazoline(DB00935)|Paliperidone(DB01267)|Pergolide(DB01186)|Phendimetrazine(DB01579)|Phenoxybenzamine(DB00925)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Silodosin(DB06207)|Tamsulosin(DB00706)|Terazosin(DB01162)|Thioproperazine(DB01622)|Thioridazine(DB00679)|Trimipramine(DB00726)|Xylometazoline(DB06694)|Ziprasidone(DB00246)	CACCCTGAAGCCCCCCGACGC	0.587																																						ENST00000306675.3																			1	Insertion - Frameshift(1)	p.D327fs*134(1)	large_intestine(1)	endometrium(3)|large_intestine(6)|lung(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	19						c.(973-975)ccfs		adrenoceptor alpha 1B	Alfuzosin(DB00346)|Bethanidine(DB00217)|Dapiprazole(DB00298)|Debrisoquin(DB04840)|Dextroamphetamine(DB01576)|Doxazosin(DB00590)|Guanadrel Sulfate(DB00226)|Guanethidine(DB01170)|Guanfacine(DB01018)|Labetalol(DB00598)|Lisdexamfetamine(DB01255)|Methamphetamine(DB01577)|Methotrimeprazine(DB01403)|Methoxamine(DB00723)|Midodrine(DB00211)|Modafinil(DB00745)|Nefazodone(DB01149)|Norepinephrine(DB00368)|Olanzapine(DB00334)|Phendimetrazine(DB01579)|Phenylephrine(DB00388)|Prazosin(DB00457)|Promazine(DB00420)|Propericiazine(DB01608)|Propiomazine(DB00777)|Quetiapine(DB01224)|Risperidone(DB00734)|Sertindole(DB06144)|Tamsulosin(DB00706)|Terazosin(DB01162)|Trazodone(DB00656)						30.0	34.0	33.0					5																	159398909		2193	4272	6465	SO:0001589	frameshift_variant	147				cell proliferation|cell-cell signaling|G-protein signaling, coupled to cAMP nucleotide second messenger|intracellular protein kinase cascade	integral to plasma membrane	alpha1-adrenergic receptor activity	g.chr5:159398909delC	L31773	CCDS4347.1	5q33.3	2012-08-08	2012-05-09		ENSG00000170214	ENSG00000170214		"""GPCR / Class A : Adrenoceptors : alpha"""	278	protein-coding gene	gene with protein product		104220	"""adrenergic, alpha-1B-, receptor"""				Standard	XM_005265818		Approved		uc003lxt.1	P35368	OTTHUMG00000130327	ENST00000306675.3:c.973delC	5.37:g.159398909delC	ENSP00000306662:p.Pro326fs						p.P326fs	NM_000679.3	NP_000670.1	P35368	ADA1B_HUMAN	Kidney(164;7.83e-05)|KIRC - Kidney renal clear cell carcinoma(164;0.000525)		2	1096	+	Renal(175;0.00196)	Medulloblastoma(196;0.0354)|all_neural(177;0.138)	326					B0LPE1	Frame_Shift_Del	DEL	ENST00000306675.3	37	c.973delC	CCDS4347.1																																																																																				0.587	ADRA1B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252676.1			35	67						35	67	---	---	---	---
F13A1	2162	broad.mit.edu	37	6	6197471	6197471	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr6:6197471delG	ENST00000264870.3	-	9	1466	c.1201delC	c.(1201-1203)cagfs	p.Q401fs		NM_000129.3	NP_000120.2	P00488	F13A_HUMAN	coagulation factor XIII, A1 polypeptide	401					blood coagulation (GO:0007596)|peptide cross-linking (GO:0018149)|platelet activation (GO:0030168)|platelet degranulation (GO:0002576)	blood microparticle (GO:0072562)|extracellular region (GO:0005576)|platelet alpha granule lumen (GO:0031093)	metal ion binding (GO:0046872)|protein-glutamine gamma-glutamyltransferase activity (GO:0003810)	p.Q401fs*4(1)		NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	Ovarian(93;0.0816)	all_hematologic(90;0.152)			L-Glutamine(DB00130)	CTATTTTCCTGGGGGGTGCTG	0.478																																						ENST00000264870.3																			1	Insertion - Frameshift(1)	p.Q401fs*4(1)	large_intestine(1)	NS(1)|autonomic_ganglia(1)|breast(2)|central_nervous_system(1)|endometrium(1)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(10)|lung(37)|ovary(2)|pancreas(1)|prostate(1)|skin(2)|upper_aerodigestive_tract(1)	62	GRCh37	CM960522	F13A1	M		c.(1201-1203)agfs		coagulation factor XIII, A1 polypeptide	L-Glutamine(DB00130)						84.0	79.0	81.0					6																	6197471		2203	4300	6503	SO:0001589	frameshift_variant	2162				peptide cross-linking|platelet activation|platelet degranulation	extracellular region|platelet alpha granule lumen	acyltransferase activity|metal ion binding|protein-glutamine gamma-glutamyltransferase activity	g.chr6:6197471delG	M14539	CCDS4496.1	6p24.2-p23	2014-01-24			ENSG00000124491	ENSG00000124491		"""Transglutaminases"""	3531	protein-coding gene	gene with protein product		134570		F13A			Standard	NM_000129		Approved		uc003mwv.3	P00488	OTTHUMG00000014186	ENST00000264870.3:c.1201delC	6.37:g.6197471delG	ENSP00000264870:p.Gln401fs						p.Q401fs	NM_000129.3	NP_000120.2	P00488	F13A_HUMAN			9	1466	-	Ovarian(93;0.0816)	all_hematologic(90;0.152)	401					Q59HA7|Q8N6X2|Q96P24|Q9BX29	Frame_Shift_Del	DEL	ENST00000264870.3	37	c.1201delC	CCDS4496.1																																																																																				0.478	F13A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000039756.3	NM_000129		29	47						29	47	---	---	---	---
SLC17A1	6568	broad.mit.edu	37	6	25801139	25801140	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr6:25801139_25801140insA	ENST00000244527.4	-	11	1362_1363	c.1247_1248insT	c.(1246-1248)ttgfs	p.L416fs	SLC17A1_ENST00000427328.1_Frame_Shift_Ins_p.L362fs|SLC17A1_ENST00000468082.1_Frame_Shift_Ins_p.L362fs|SLC17A1_ENST00000476801.1_Frame_Shift_Ins_p.L416fs	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN	solute carrier family 17 (organic anion transporter), member 1	416					ion transport (GO:0006811)|phosphate ion transport (GO:0006817)|sodium ion transport (GO:0006814)|sodium-dependent phosphate transport (GO:0044341)|transmembrane transport (GO:0055085)|urate metabolic process (GO:0046415)	integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)|plasma membrane (GO:0005886)	sodium-dependent phosphate transmembrane transporter activity (GO:0015321)|symporter activity (GO:0015293)			breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						TCAATCCAGTCAAAGTGGAAGC	0.292																																						ENST00000244527.4																			0				breast(1)|central_nervous_system(1)|cervix(1)|endometrium(3)|kidney(2)|large_intestine(6)|lung(14)|ovary(3)|pancreas(1)|skin(3)|upper_aerodigestive_tract(1)	36						c.(1246-1248)tacfs		solute carrier family 17 (organic anion transporter), member 1																																				SO:0001589	frameshift_variant	6568				sodium ion transport|urate metabolic process	integral to plasma membrane|membrane fraction	sodium-dependent phosphate transmembrane transporter activity|symporter activity	g.chr6:25801139_25801140insA		CCDS4565.1	6p22.2	2013-07-18	2013-07-18		ENSG00000124568	ENSG00000124568		"""Solute carriers"""	10929	protein-coding gene	gene with protein product		182308	"""solute carrier family 17 (sodium phosphate), member 1"""	NPT1		8288239	Standard	NM_005074		Approved	NAPI-1	uc003nfh.4	Q14916	OTTHUMG00000016297	ENST00000244527.4:c.1248dupT	6.37:g.25801142_25801142dupA	ENSP00000244527:p.Leu416fs					SLC17A1_ENST00000468082.1_Frame_Shift_Ins_p.Y362fs|SLC17A1_ENST00000476801.1_Frame_Shift_Ins_p.Y416fs|SLC17A1_ENST00000427328.1_Frame_Shift_Ins_p.Y362fs	p.Y416fs	NM_005074.3	NP_005065.2	Q14916	NPT1_HUMAN			11	1362_1363	-			416					A8K418|O60761|Q13783|Q3MIP5|Q5MJP8|Q5TB83|Q96KL8	Frame_Shift_Ins	INS	ENST00000244527.4	37	c.1247_1248insT	CCDS4565.1																																																																																				0.292	SLC17A1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000043647.2			15	40						15	40	---	---	---	---
POU3F2	5454	broad.mit.edu	37	6	99283622	99283622	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr6:99283622delG	ENST00000328345.5	+	1	1043	c.873delG	c.(871-873)gtgfs	p.V291fs		NM_005604.3	NP_005595.2	P20265	PO3F2_HUMAN	POU class 3 homeobox 2	291	POU-specific. {ECO:0000255|PROSITE- ProRule:PRU00530}.				astrocyte development (GO:0014002)|cellular response to organic substance (GO:0071310)|cerebral cortex radially oriented cell migration (GO:0021799)|epidermis development (GO:0008544)|forebrain ventricular zone progenitor cell division (GO:0021869)|hypothalamus cell differentiation (GO:0021979)|myelination in peripheral nervous system (GO:0022011)|neurohypophysis development (GO:0021985)|neuron differentiation (GO:0030182)|positive regulation of cell proliferation (GO:0008284)|positive regulation of multicellular organism growth (GO:0040018)|regulation of axonogenesis (GO:0050770)	nucleus (GO:0005634)|transcription factor complex (GO:0005667)	identical protein binding (GO:0042802)|RNA polymerase II transcription coactivator activity (GO:0001105)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			endometrium(2)|large_intestine(3)|lung(5)	10		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)		BRCA - Breast invasive adenocarcinoma(108;0.0355)		AAGCGGACGTGGGGCTGGCTC	0.602																																						ENST00000328345.5																			0				endometrium(2)|large_intestine(3)|lung(5)	10						c.(871-873)gtfs		POU class 3 homeobox 2							186.0	195.0	192.0					6																	99283622		2203	4300	6503	SO:0001589	frameshift_variant	5454				positive regulation of cell proliferation		identical protein binding|sequence-specific DNA binding transcription factor activity	g.chr6:99283622delG	Z11933	CCDS5040.1	6q16.2	2011-06-20	2007-07-13		ENSG00000184486	ENSG00000184486		"""Homeoboxes / POU class"""	9215	protein-coding gene	gene with protein product		600494	"""POU domain class 3, transcription factor 2"""	OTF7		8441633	Standard	NM_005604		Approved	POUF3, BRN2, OCT7	uc003ppe.3	P20265	OTTHUMG00000015258	ENST00000328345.5:c.873delG	6.37:g.99283622delG	ENSP00000329170:p.Val291fs						p.V291fs	NM_005604.3	NP_005595.2	P20265	PO3F2_HUMAN		BRCA - Breast invasive adenocarcinoma(108;0.0355)	1	1043	+		all_cancers(76;1.56e-06)|Acute lymphoblastic leukemia(125;4.93e-10)|all_hematologic(75;3.55e-07)|all_epithelial(107;0.00893)|Colorectal(196;0.069)|Lung NSC(302;0.197)	291			POU-specific.		Q14960|Q86V54|Q9UJL0	Frame_Shift_Del	DEL	ENST00000328345.5	37	c.873delG	CCDS5040.1																																																																																				0.602	POU3F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000041586.2			148	415						148	415	---	---	---	---
ROS1	6098	broad.mit.edu	37	6	117681120	117681120	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr6:117681120delA	ENST00000368508.3	-	23	3698	c.3500delT	c.(3499-3501)ttafs	p.L1167fs	ROS1_ENST00000368507.3_Frame_Shift_Del_p.L1162fs|GOPC_ENST00000467125.1_Intron	NM_002944.2	NP_002935.2	P08922	ROS1_HUMAN	ROS proto-oncogene 1 , receptor tyrosine kinase	1167					cell differentiation (GO:0030154)|cell growth (GO:0016049)|cell proliferation (GO:0008283)|columnar/cuboidal epithelial cell development (GO:0002066)|negative regulation of gene expression (GO:0010629)|peptidyl-tyrosine phosphorylation (GO:0018108)|protein phosphorylation (GO:0006468)|regulation of ERK1 and ERK2 cascade (GO:0070372)|regulation of phosphate transport (GO:0010966)|regulation of TOR signaling (GO:0032006)|spermatogenesis (GO:0007283)|transmembrane receptor protein tyrosine kinase signaling pathway (GO:0007169)	integral component of membrane (GO:0016021)|membrane (GO:0016020)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|protein phosphatase binding (GO:0019903)|protein tyrosine kinase activity (GO:0004713)|transmembrane receptor protein tyrosine kinase activity (GO:0004714)		TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162		all_cancers(87;0.00846)|all_epithelial(87;0.0242)		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)		ATCCATATCTAAAAAAACTAT	0.353			T	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""	"""glioblastoma, NSCLC"""																																	ENST00000368508.3				Dom	yes		6	6q22	6098	T	v-ros UR2 sarcoma virus oncogene homolog 1 (avian)			"""O, E"""	"""GOPC, SDC4, SLC34A2, EZR, LRIG3"""		"""glioblastoma, NSCLC"""	TPM3_ENST00000368530/ROS1(4)|LRIG3/ROS1(2)|CD74_ENST00000009530/ROS1(32)|SLC34A2/ROS1(14)|EZR/ROS1(4)|GOPC/ROS1(14)|SDC4/ROS1(7)	0				NS(2)|breast(7)|central_nervous_system(5)|endometrium(7)|haematopoietic_and_lymphoid_tissue(2)|kidney(12)|large_intestine(28)|lung(56)|ovary(8)|prostate(5)|skin(19)|stomach(3)|upper_aerodigestive_tract(5)|urinary_tract(3)	162						c.(3499-3501)tafs		c-ros oncogene 1 , receptor tyrosine kinase							95.0	91.0	92.0					6																	117681120		2203	4300	6503	SO:0001589	frameshift_variant	6098				transmembrane receptor protein tyrosine kinase signaling pathway	membrane fraction|sodium:potassium-exchanging ATPase complex	ATP binding|transmembrane receptor protein tyrosine kinase activity	g.chr6:117681120delA	M13599	CCDS5116.1	6q21-q22	2014-06-26	2014-06-26		ENSG00000047936	ENSG00000047936		"""Fibronectin type III domain containing"""	10261	protein-coding gene	gene with protein product		165020	"""v-ros avian UR2 sarcoma virus oncogene homolog 1"", ""v-ros UR2 sarcoma virus oncogene homolog 1 (avian)"", ""c-ros oncogene 1 , receptor tyrosine kinase"""			1611909	Standard	NM_002944		Approved	MCF3, ROS, c-ros-1	uc003pxp.1	P08922	OTTHUMG00000016188	ENST00000368508.3:c.3500delT	6.37:g.117681120delA	ENSP00000357494:p.Leu1167fs					GOPC_ENST00000467125.1_Intron|ROS1_ENST00000368507.3_Frame_Shift_Del_p.L1162fs	p.L1167fs	NM_002944.2	NP_002935.2	P08922	ROS_HUMAN		GBM - Glioblastoma multiforme(226;0.0387)|OV - Ovarian serous cystadenocarcinoma(136;0.0954)|all cancers(137;0.137)	23	3698	-		all_cancers(87;0.00846)|all_epithelial(87;0.0242)	1167					Q15368|Q5TDB5	Frame_Shift_Del	DEL	ENST00000368508.3	37	c.3500delT	CCDS5116.1																																																																																				0.353	ROS1-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000043464.1			21	56						21	56	---	---	---	---
RAC1	5879	broad.mit.edu	37	7	6438326	6438327	+	Intron	INS	-	-	G	rs376406697|rs143643351		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:6438326_6438327insG	ENST00000348035.4	+	4	438				RAC1_ENST00000356142.4_Frame_Shift_Ins_p.R87fs|RAC1_ENST00000488373.1_Intron	NM_006908.4	NP_008839.2	P63000	RAC1_HUMAN	ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)						actin cytoskeleton organization (GO:0030036)|actin filament polymerization (GO:0030041)|anatomical structure arrangement (GO:0048532)|anatomical structure morphogenesis (GO:0009653)|apoptotic signaling pathway (GO:0097190)|auditory receptor cell morphogenesis (GO:0002093)|axon guidance (GO:0007411)|blood coagulation (GO:0007596)|bone resorption (GO:0045453)|cell adhesion (GO:0007155)|cell motility (GO:0048870)|cell proliferation (GO:0008283)|cell-cell junction organization (GO:0045216)|cell-matrix adhesion (GO:0007160)|cellular component movement (GO:0006928)|cerebral cortex radially oriented cell migration (GO:0021799)|cochlea morphogenesis (GO:0090103)|dendrite morphogenesis (GO:0048813)|dopaminergic neuron differentiation (GO:0071542)|embryonic olfactory bulb interneuron precursor migration (GO:0021831)|engulfment of apoptotic cell (GO:0043652)|epithelial cell morphogenesis (GO:0003382)|Fc-epsilon receptor signaling pathway (GO:0038095)|Fc-gamma receptor signaling pathway involved in phagocytosis (GO:0038096)|G-protein coupled receptor signaling pathway (GO:0007186)|hyperosmotic response (GO:0006972)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|intracellular signal transduction (GO:0035556)|lamellipodium assembly (GO:0030032)|localization within membrane (GO:0051668)|mast cell chemotaxis (GO:0002551)|negative regulation of interleukin-23 production (GO:0032707)|negative regulation of receptor-mediated endocytosis (GO:0048261)|neurotrophin TRK receptor signaling pathway (GO:0048011)|platelet activation (GO:0030168)|positive regulation of actin filament polymerization (GO:0030838)|positive regulation of apoptotic process (GO:0043065)|positive regulation of DNA replication (GO:0045740)|positive regulation of focal adhesion assembly (GO:0051894)|positive regulation of lamellipodium assembly (GO:0010592)|positive regulation of neutrophil chemotaxis (GO:0090023)|positive regulation of phosphatidylinositol 3-kinase activity (GO:0043552)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of Rho protein signal transduction (GO:0035025)|positive regulation of stress fiber assembly (GO:0051496)|positive regulation of substrate adhesion-dependent cell spreading (GO:1900026)|protein localization to plasma membrane (GO:0072659)|regulation of cell migration (GO:0030334)|regulation of defense response to virus by virus (GO:0050690)|regulation of hydrogen peroxide metabolic process (GO:0010310)|regulation of respiratory burst (GO:0060263)|response to wounding (GO:0009611)|ruffle assembly (GO:0097178)|ruffle organization (GO:0031529)|semaphorin-plexin signaling pathway (GO:0071526)|small GTPase mediated signal transduction (GO:0007264)|substrate adhesion-dependent cell spreading (GO:0034446)|T cell costimulation (GO:0031295)|viral process (GO:0016032)|Wnt signaling pathway, planar cell polarity pathway (GO:0060071)	cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|cytoplasmic ribonucleoprotein granule (GO:0036464)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|extrinsic component of plasma membrane (GO:0019897)|focal adhesion (GO:0005925)|Golgi membrane (GO:0000139)|lamellipodium (GO:0030027)|membrane (GO:0016020)|phagocytic cup (GO:0001891)|plasma membrane (GO:0005886)|ruffle membrane (GO:0032587)|trans-Golgi network (GO:0005802)	enzyme binding (GO:0019899)|GTP binding (GO:0005525)|GTPase activity (GO:0003924)|Rho GDP-dissociation inhibitor binding (GO:0051022)|thioesterase binding (GO:0031996)			cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8		Ovarian(82;0.0776)		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	Dextromethorphan(DB00514)	TATAACCTCCCGGGGCAAAGAC	0.396																																						ENST00000356142.4																			0				cervix(1)|endometrium(1)|lung(3)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	8						c.(259-261)gggfs		ras-related C3 botulinum toxin substrate 1 (rho family, small GTP binding protein Rac1)	Pravastatin(DB00175)|Simvastatin(DB00641)																																			SO:0001627	intron_variant	5879				actin filament polymerization|apoptosis|axon guidance|cell motility|cell-matrix adhesion|induction of apoptosis by extracellular signals|inflammatory response|lamellipodium assembly|localization within membrane|negative regulation of interleukin-23 production|negative regulation of receptor-mediated endocytosis|nerve growth factor receptor signaling pathway|platelet activation|positive regulation of lamellipodium assembly|positive regulation of Rho protein signal transduction|regulation of cell migration|regulation of defense response to virus by virus|regulation of hydrogen peroxide metabolic process|regulation of respiratory burst|ruffle organization|small GTPase mediated signal transduction|T cell costimulation|viral reproduction	cytosol|melanosome|plasma membrane	GTP binding|GTP-dependent protein binding|GTPase activity|thioesterase binding	g.chr7:6438326_6438327insG	AJ132695	CCDS5348.1, CCDS5349.1	7p22	2014-01-30			ENSG00000136238	ENSG00000136238		"""Endogenous ligands"""	9801	protein-coding gene	gene with protein product		602048				2674130, 10597294	Standard	NM_006908		Approved	TC-25, p21-Rac1, Rac-1	uc003spw.3	P63000	OTTHUMG00000023540	ENST00000348035.4:c.226-1430->G	7.37:g.6438330_6438330dupG						RAC1_ENST00000348035.4_Intron|RAC1_ENST00000488373.1_Intron	p.G87fs	NM_018890.3	NP_061485.1	P63000	RAC1_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (126;0.104)	4	456_457	+		Ovarian(82;0.0776)	75					O95501|P15154|Q3Y4D3|Q5JAA8|Q9BTB4	Frame_Shift_Ins	INS	ENST00000348035.4	37	c.259_260insG	CCDS5348.1																																																																																				0.396	RAC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000242868.2	NM_018890		7	28						7	28	---	---	---	---
MACC1	346389	broad.mit.edu	37	7	20198752	20198752	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:20198752delT	ENST00000400331.5	-	5	1540	c.1232delA	c.(1231-1233)aacfs	p.N411fs	MACC1_ENST00000332878.4_Frame_Shift_Del_p.N411fs|MACC1_ENST00000589011.1_Frame_Shift_Del_p.N411fs	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN	metastasis associated in colon cancer 1	411					positive regulation of cell division (GO:0051781)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						TGGAGATATGTTTTTTCCACC	0.348																																						ENST00000400331.5																			0				endometrium(1)|kidney(1)|large_intestine(15)|lung(12)|ovary(2)|prostate(1)|skin(3)|soft_tissue(1)|stomach(2)|upper_aerodigestive_tract(1)	39						c.(1231-1233)acfs		metastasis associated in colon cancer 1							50.0	48.0	48.0					7																	20198752		2203	4300	6503	SO:0001589	frameshift_variant	346389				positive regulation of cell division|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus|plasma membrane	growth factor activity	g.chr7:20198752delT		CCDS5369.1	7p15.3	2008-10-14			ENSG00000183742	ENSG00000183742			30215	protein-coding gene	gene with protein product		612646					Standard	NM_182762		Approved	7A5, SH3BP4L	uc003sus.4	Q6ZN28	OTTHUMG00000128415	ENST00000400331.5:c.1232delA	7.37:g.20198752delT	ENSP00000383185:p.Asn411fs					MACC1_ENST00000332878.4_Frame_Shift_Del_p.N411fs|MACC1_ENST00000589011.1_Frame_Shift_Del_p.N411fs	p.N411fs	NM_182762.3	NP_877439.3	Q6ZN28	MACC1_HUMAN			5	1540	-			411					A8MUS5|B2RNR9|Q6ZQN8|Q7Z5A5	Frame_Shift_Del	DEL	ENST00000400331.5	37	c.1232delA	CCDS5369.1																																																																																				0.348	MACC1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000250202.5	NM_182762		10	39						10	39	---	---	---	---
DPY19L2P1	554236	broad.mit.edu	37	7	35131562	35131562	+	RNA	DEL	A	A	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:35131562delA	ENST00000436258.1	-	0	1811							Q6NXN4	D19P1_HUMAN	DPY19L2 pseudogene 1							integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)										ACAGCATCTGAAAAAAAAGGA	0.368																																						ENST00000436258.1																			0																																																			554236							g.chr7:35131562delA	BC066987		7p14.2	2014-03-18	2013-09-12		ENSG00000189212	ENSG00000189212			22305	pseudogene	pseudogene			"""dpy-19-like 2 pseudogene 1 (C. elegans)"""				Standard	NR_002833		Approved		uc031swy.1	Q6NXN4	OTTHUMG00000155026		7.37:g.35131562delA														0	1811	-								B4E2E3	RNA	DEL	ENST00000436258.1	37																																																																																						0.368	DPY19L2P1-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000338113.1			8	32						8	32	---	---	---	---
ZNF804B	219578	broad.mit.edu	37	7	88962805	88962806	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:88962805_88962806insA	ENST00000333190.4	+	4	1118_1119	c.509_510insA	c.(508-513)ggaaaafs	p.GK170fs		NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	zinc finger protein 804B	170							metal ion binding (GO:0046872)	p.G170E(1)		NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		STAD - Stomach adenocarcinoma(171;0.0513)			CTCCTTAAAGGAAAAAATCTCC	0.446										HNSCC(36;0.09)																												ENST00000333190.4																			1	Substitution - Missense(1)	p.G170E(1)	skin(1)	NS(1)|breast(2)|endometrium(5)|kidney(5)|large_intestine(20)|lung(78)|ovary(5)|pancreas(5)|prostate(2)|skin(11)|soft_tissue(1)|upper_aerodigestive_tract(9)	144						c.(508-510)gaafs		zinc finger protein 804B																																				SO:0001589	frameshift_variant	219578					intracellular	zinc ion binding	g.chr7:88962805_88962806insA	AK056672	CCDS5613.1	7q21.13	2012-10-05	2006-12-18		ENSG00000182348	ENSG00000182348			21958	protein-coding gene	gene with protein product			"""zinc finger 804B"""				Standard	NM_181646		Approved	FLJ32110	uc011khi.2	A4D1E1	OTTHUMG00000131037	ENST00000333190.4:c.515dupA	7.37:g.88962811_88962811dupA	ENSP00000329638:p.Gly170fs	HNSCC(36;0.09)					p.E170fs	NM_181646.2	NP_857597.1	A4D1E1	Z804B_HUMAN	STAD - Stomach adenocarcinoma(171;0.0513)		4	1118_1119	+	all_hematologic(106;0.125)|Lung NSC(181;0.15)|all_lung(186;0.151)		170					B2RTV2|Q7Z714|Q96MN7	Frame_Shift_Ins	INS	ENST00000333190.4	37	c.509_510insA	CCDS5613.1																																																																																				0.446	ZNF804B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000253683.2	NM_181646		19	55						19	55	---	---	---	---
CLDN15	24146	broad.mit.edu	37	7	100880799	100880799	+	Frame_Shift_Del	DEL	C	C	-	rs144226303		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:100880799delC	ENST00000401528.1	-	2	1189	c.64delG	c.(64-66)gtgfs	p.V22fs	CLDN15_ENST00000308344.5_Frame_Shift_Del_p.V22fs|CLDN15_ENST00000433422.1_5'UTR|FIS1_ENST00000482199.1_5'Flank	NM_001185080.1	NP_001172009.1	P56746	CLD15_HUMAN	claudin 15	22					calcium-independent cell-cell adhesion (GO:0016338)|cell junction assembly (GO:0034329)|cell-cell junction organization (GO:0045216)|ion transport (GO:0006811)|tight junction assembly (GO:0070830)	integral component of membrane (GO:0016021)|lateral plasma membrane (GO:0016328)|tight junction (GO:0005923)	identical protein binding (GO:0042802)|structural molecule activity (GO:0005198)			endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	10	Lung NSC(181;0.168)|all_lung(186;0.215)					GGCAGAGTCACCCCCAGCATC	0.587																																						ENST00000401528.1																			0				endometrium(2)|haematopoietic_and_lymphoid_tissue(2)|large_intestine(1)|lung(3)|ovary(1)|skin(1)	10						c.(64-66)tgfs		claudin 15							154.0	114.0	128.0					7																	100880799		2203	4300	6503	SO:0001589	frameshift_variant	24146				calcium-independent cell-cell adhesion|tight junction assembly	integral to membrane|tight junction	identical protein binding|structural molecule activity	g.chr7:100880799delC	AJ245738	CCDS5717.1	7q22	2008-07-18			ENSG00000106404	ENSG00000106404		"""Claudins"""	2036	protein-coding gene	gene with protein product		615778					Standard	NM_014343		Approved		uc003uyg.2	P56746	OTTHUMG00000150512	ENST00000401528.1:c.64delG	7.37:g.100880799delC	ENSP00000385300:p.Val22fs					CLDN15_ENST00000433422.1_5'UTR|CLDN15_ENST00000308344.5_Frame_Shift_Del_p.V22fs	p.V22fs	NM_001185080.1	NP_001172009.1	P56746	CLD15_HUMAN			2	1189	-	Lung NSC(181;0.168)|all_lung(186;0.215)		22					B3KPB5	Frame_Shift_Del	DEL	ENST00000401528.1	37	c.64delG	CCDS5717.1																																																																																				0.587	CLDN15-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000318698.1	NM_014343		24	40						24	40	---	---	---	---
KMT2E	55904	broad.mit.edu	37	7	104752943	104752944	+	Frame_Shift_Del	DEL	TG	TG	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:104752943_104752944delTG	ENST00000311117.3	+	27	5285_5286	c.4740_4741delTG	c.(4738-4743)actgtgfs	p.V1581fs	KMT2E_ENST00000334877.4_Frame_Shift_Del_p.V1539fs|SRPK2_ENST00000493638.1_Intron|KMT2E_ENST00000257745.4_Frame_Shift_Del_p.V1581fs	NM_182931.2	NP_891847.1	Q8IZD2	KMT2E_HUMAN	lysine (K)-specific methyltransferase 2E	1581	Pro-rich. {ECO:0000255}.				cell cycle arrest (GO:0007050)|cellular response to retinoic acid (GO:0071300)|DNA methylation (GO:0006306)|erythrocyte differentiation (GO:0030218)|histone H3-K4 methylation (GO:0051568)|neutrophil activation (GO:0042119)|neutrophil mediated immunity (GO:0002446)|positive regulation of granulocyte differentiation (GO:0030854)|positive regulation of transcription, DNA-templated (GO:0045893)|retinoic acid receptor signaling pathway (GO:0048384)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|MLL5-L complex (GO:0070688)|plasma membrane (GO:0005886)	enzyme binding (GO:0019899)|histone methyltransferase activity (H3-K4 specific) (GO:0042800)|transcription coactivator activity (GO:0003713)|zinc ion binding (GO:0008270)										CTCAACAAACTGTGTTTACATC	0.465																																						ENST00000334877.4																			0											c.(4612-4617)actgfs		lysine (K)-specific methyltransferase 2E																																				SO:0001589	frameshift_variant	55904							g.chr7:104752943_104752944delTG	AF067804	CCDS34723.1	7q22.1	2013-05-09	2013-05-09	2013-05-09	ENSG00000005483	ENSG00000005483		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	18541	protein-coding gene	gene with protein product		608444	"""myeloid/lymphoid or mixed-lineage leukemia 5 (trithorax homolog, Drosophila)"""	MLL5		9218106, 7672722	Standard	XM_005250493		Approved	HDCMC04P		Q8IZD2	OTTHUMG00000157403	ENST00000311117.3:c.4740_4741delTG	7.37:g.104752945_104752946delTG	ENSP00000312379:p.Val1581fs					KMT2E_ENST00000311117.3_Frame_Shift_Del_p.TV1580fs|KMT2E_ENST00000257745.4_Frame_Shift_Del_p.TV1580fs|SRPK2_ENST00000493638.1_Intron	p.TV1538fs							26	5148_5149	+								B6ZDE4|B6ZDM3|M4K8J3|Q6P5Y2|Q6PKG4|Q6T316|Q86TI3|Q86W12|Q86WG0|Q86WL2|Q8IV78|Q8IWR5|Q8NFF8|Q9NWE7	Frame_Shift_Del	DEL	ENST00000311117.3	37	c.4614_4615delTG	CCDS34723.1																																																																																				0.465	KMT2E-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000348697.1			41	94						41	94	---	---	---	---
DGKI	9162	broad.mit.edu	37	7	137128838	137128838	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:137128838delA	ENST00000288490.5	-	29	2770	c.2770delT	c.(2770-2772)tctfs	p.S925fs	DGKI_ENST00000453654.2_Frame_Shift_Del_p.S594fs|DGKI_ENST00000446122.1_Frame_Shift_Del_p.S907fs|DGKI_ENST00000424189.2_Frame_Shift_Del_p.S938fs|DGKI_ENST00000494390.1_5'UTR	NM_004717.2	NP_004708.1	O75912	DGKI_HUMAN	diacylglycerol kinase, iota	925					blood coagulation (GO:0007596)|intracellular signal transduction (GO:0035556)|platelet activation (GO:0030168)|positive regulation of Ras protein signal transduction (GO:0046579)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|regulation of Rap GTPase activity (GO:0032317)	cytoplasm (GO:0005737)|guanyl-nucleotide exchange factor complex (GO:0032045)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)|plasma membrane (GO:0005886)	ATP binding (GO:0005524)|diacylglycerol kinase activity (GO:0004143)|GTPase inhibitor activity (GO:0005095)|metal ion binding (GO:0046872)|NAD+ kinase activity (GO:0003951)			breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						TCTTCTGAAGAGACTGGTGAC	0.294																																						ENST00000453654.1																			0				breast(3)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(3)|large_intestine(12)|lung(46)|ovary(2)|prostate(4)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(1)	84						c.(1777-1779)ctfs		diacylglycerol kinase, iota							56.0	54.0	55.0					7																	137128838		2201	4300	6501	SO:0001589	frameshift_variant	9162				activation of protein kinase C activity by G-protein coupled receptor protein signaling pathway|intracellular signal transduction|platelet activation	nucleus|plasma membrane	ATP binding|diacylglycerol kinase activity|metal ion binding	g.chr7:137128838delA	AF061936	CCDS5845.1	7q32.3-q33	2013-01-10			ENSG00000157680	ENSG00000157680		"""Ankyrin repeat domain containing"""	2855	protein-coding gene	gene with protein product		604072				9830018	Standard	NM_004717		Approved	DGK-IOTA	uc003vtt.3	O75912	OTTHUMG00000155697	ENST00000288490.5:c.2770delT	7.37:g.137128838delA	ENSP00000288490:p.Ser925fs					DGKI_ENST00000288490.5_Frame_Shift_Del_p.S925fs|DGKI_ENST00000494390.1_5'UTR|DGKI_ENST00000446122.1_Frame_Shift_Del_p.S907fs|DGKI_ENST00000424189.2_Frame_Shift_Del_p.S938fs	p.S594fs			O75912	DGKI_HUMAN			28	2316	-			925					A4D1Q9|Q9NZ49	Frame_Shift_Del	DEL	ENST00000288490.5	37	c.1777delT	CCDS5845.1																																																																																				0.294	DGKI-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000341286.3	NM_004717		4	8						4	8	---	---	---	---
NOS3	4846	broad.mit.edu	37	7	150698398	150698398	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr7:150698398delG	ENST00000484524.1	+	10	1313	c.1313delG	c.(1312-1314)aggfs	p.R438fs	NOS3_ENST00000461406.1_Frame_Shift_Del_p.R232fs|NOS3_ENST00000297494.3_Frame_Shift_Del_p.R438fs|NOS3_ENST00000467517.1_Frame_Shift_Del_p.R438fs	NM_001160111.1	NP_001153583.1	P60323	NANO3_HUMAN	nitric oxide synthase 3 (endothelial cell)	0					germ cell development (GO:0007281)|multicellular organismal development (GO:0007275)|negative regulation of apoptotic signaling pathway (GO:2001234)|oogenesis (GO:0048477)|regulation of cell cycle (GO:0051726)|regulation of translation (GO:0006417)|spermatogenesis (GO:0007283)	cytoplasm (GO:0005737)|cytoplasmic mRNA processing body (GO:0000932)|cytoplasmic stress granule (GO:0010494)|nucleus (GO:0005634)|perinuclear region of cytoplasm (GO:0048471)	RNA binding (GO:0003723)|zinc ion binding (GO:0008270)			NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50	all_neural(206;0.219)		OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)		CAGAAGGCCAGGGGGGGCTGC	0.617																																						ENST00000297494.3																			0				NS(3)|breast(3)|central_nervous_system(5)|endometrium(1)|kidney(4)|large_intestine(6)|liver(2)|lung(11)|ovary(3)|prostate(3)|skin(6)|upper_aerodigestive_tract(2)|urinary_tract(1)	50						c.(1312-1314)agfs		nitric oxide synthase 3 (endothelial cell)	L-Arginine(DB00125)|L-Citrulline(DB00155)|Rosuvastatin(DB01098)|Tetrahydrobiopterin(DB00360)						59.0	61.0	61.0					7																	150698398		2203	4300	6503	SO:0001589	frameshift_variant	4846				anti-apoptosis|arginine catabolic process|blood vessel remodeling|endothelial cell migration|mitochondrion organization|negative regulation of muscle hyperplasia|negative regulation of platelet activation|nitric oxide biosynthetic process|platelet activation|positive regulation of angiogenesis|positive regulation of guanylate cyclase activity|positive regulation of vasodilation|regulation of blood vessel size|regulation of nitric-oxide synthase activity|regulation of systemic arterial blood pressure by endothelin|response to fluid shear stress|response to heat|smooth muscle hyperplasia	caveola|cytoskeleton|cytosol|Golgi membrane	actin monomer binding|arginine binding|cadmium ion binding|calmodulin binding|flavin adenine dinucleotide binding|FMN binding|heme binding|NADP binding|nitric-oxide synthase activity|tetrahydrobiopterin binding	g.chr7:150698398delG		CCDS5912.1, CCDS55182.1, CCDS55183.1	7q36	2007-02-15			ENSG00000164867	ENSG00000164867	1.14.13.39		7876	protein-coding gene	gene with protein product	"""endothelial nitric oxide synthase"""	163729				1379542	Standard	NM_000603		Approved	ECNOS, eNOS	uc003wif.3	P29474	OTTHUMG00000158343	ENST00000484524.1:c.1313delG	7.37:g.150698398delG	ENSP00000420215:p.Arg438fs					NOS3_ENST00000467517.1_Frame_Shift_Del_p.R438fs|NOS3_ENST00000484524.1_Frame_Shift_Del_p.R438fs|NOS3_ENST00000461406.1_Frame_Shift_Del_p.R232fs	p.R438fs	NM_000603.4	NP_000594.2	P29474	NOS3_HUMAN	OV - Ovarian serous cystadenocarcinoma(82;0.0121)	UCEC - Uterine corpus endometrioid carcinoma (81;0.168)	11	1670	+	all_neural(206;0.219)		438			Interaction with NOSIP.		Q495E5	Frame_Shift_Del	DEL	ENST00000484524.1	37	c.1313delG	CCDS55182.1																																																																																				0.617	NOS3-004	NOVEL	basic|exp_conf|CCDS	protein_coding	protein_coding	OTTHUMT00000351550.1	NM_000603		43	47						43	47	---	---	---	---
MTUS1	57509	broad.mit.edu	37	8	17513519	17513522	+	Frame_Shift_Del	DEL	TGTT	TGTT	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr8:17513519_17513522delTGTT	ENST00000262102.6	-	9	3182_3185	c.2958_2961delAACA	c.(2956-2961)caaacafs	p.QT986fs	MTUS1_ENST00000544260.1_Frame_Shift_Del_p.QT131fs|MTUS1_ENST00000400046.1_Frame_Shift_Del_p.QT58fs|MTUS1_ENST00000297488.6_Frame_Shift_Del_p.QT152fs|MTUS1_ENST00000518713.1_5'UTR|MTUS1_ENST00000381861.3_Frame_Shift_Del_p.QT233fs|MTUS1_ENST00000519263.1_Frame_Shift_Del_p.QT932fs|MTUS1_ENST00000381869.3_Frame_Shift_Del_p.QT932fs	NM_001001924.2	NP_001001924.1	Q9ULD2	MTUS1_HUMAN	microtubule associated tumor suppressor 1	986					cellular response to peptide hormone stimulus (GO:0071375)|regulation of macrophage chemotaxis (GO:0010758)	extracellular space (GO:0005615)|Golgi apparatus (GO:0005794)|microtubule (GO:0005874)|mitochondrion (GO:0005739)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36				Colorectal(111;0.0778)		CTTCATACACTGTTTGTAACTCAT	0.422																																						ENST00000381869.3																			0				breast(1)|central_nervous_system(1)|endometrium(4)|kidney(4)|large_intestine(14)|lung(8)|ovary(1)|skin(2)|urinary_tract(1)	36						c.(2794-2799)cafs		microtubule associated tumor suppressor 1																																				SO:0001589	frameshift_variant	57509					Golgi apparatus|microtubule|microtubule organizing center|mitochondrion|nucleus|plasma membrane|spindle		g.chr8:17513519_17513522delTGTT	AL096842	CCDS43716.1, CCDS43717.1, CCDS43718.1, CCDS43719.1, CCDS55204.1	8p22	2013-01-17	2009-10-20		ENSG00000129422	ENSG00000129422			29789	protein-coding gene	gene with protein product	"""AT2 receptor-interacting protein"", ""AT2R binding protein"", ""mitochondrial tumor suppressor gene 1"""	609589	"""mitochondrial tumor suppressor 1"""			10574462, 12692079	Standard	NM_001001931		Approved	MTSG1, KIAA1288, DKFZp586D1519, FLJ14295, ATIP1, MP44, ATBP, ICIS	uc003wxv.3	Q9ULD2	OTTHUMG00000163756	ENST00000262102.6:c.2958_2961delAACA	8.37:g.17513519_17513522delTGTT	ENSP00000262102:p.Gln986fs					MTUS1_ENST00000400046.1_Frame_Shift_Del_p.QT58fs|MTUS1_ENST00000544260.1_Frame_Shift_Del_p.QT131fs|MTUS1_ENST00000262102.6_Frame_Shift_Del_p.QT986fs|MTUS1_ENST00000519263.1_Frame_Shift_Del_p.QT932fs|MTUS1_ENST00000518713.1_5'UTR|MTUS1_ENST00000297488.6_Frame_Shift_Del_p.QT152fs|MTUS1_ENST00000381861.3_Frame_Shift_Del_p.QT233fs	p.QT932fs	NM_001001925.2	NP_001001925.1	Q9ULD2	MTUS1_HUMAN		Colorectal(111;0.0778)	8	3269_3272	-			986					A8K135|B2RBJ6|B3KWJ9|B4DH03|B9EGA1|D3DSP8|Q63HJ6|Q659F4|Q6PK49|Q6URW7|Q8N4M6|Q8WTT9|Q9H7T2	Frame_Shift_Del	DEL	ENST00000262102.6	37	c.2796_2799delAACA	CCDS43717.1																																																																																				0.422	MTUS1-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000375247.1	XM_372031		35	64						35	64	---	---	---	---
RIPK2	8767	broad.mit.edu	37	8	90782147	90782148	+	Frame_Shift_Ins	INS	-	-	AT			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr8:90782147_90782148insAT	ENST00000220751.4	+	4	945_946	c.631_632insAT	c.(631-633)gatfs	p.D211fs	RIPK2_ENST00000540020.1_Frame_Shift_Ins_p.D74fs	NM_003821.5	NP_003812.1	O43353	RIPK2_HUMAN	receptor-interacting serine-threonine kinase 2	211	Protein kinase. {ECO:0000255|PROSITE- ProRule:PRU00159}.				activation of MAPK activity (GO:0000187)|adaptive immune response (GO:0002250)|apoptotic process (GO:0006915)|cellular response to lipoteichoic acid (GO:0071223)|cellular response to muramyl dipeptide (GO:0071225)|cellular response to peptidoglycan (GO:0071224)|defense response to Gram-positive bacterium (GO:0050830)|I-kappaB kinase/NF-kappaB signaling (GO:0007249)|inflammatory response (GO:0006954)|innate immune response (GO:0045087)|JNK cascade (GO:0007254)|lipopolysaccharide-mediated signaling pathway (GO:0031663)|MyD88-dependent toll-like receptor signaling pathway (GO:0002755)|MyD88-independent toll-like receptor signaling pathway (GO:0002756)|negative regulation of apoptotic process (GO:0043066)|neurotrophin TRK receptor signaling pathway (GO:0048011)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|nucleotide-binding oligomerization domain containing 1 signaling pathway (GO:0070427)|nucleotide-binding oligomerization domain containing 2 signaling pathway (GO:0070431)|nucleotide-binding oligomerization domain containing signaling pathway (GO:0070423)|positive regulation of alpha-beta T cell proliferation (GO:0046641)|positive regulation of apoptotic process (GO:0043065)|positive regulation of chemokine production (GO:0032722)|positive regulation of cytokine-mediated signaling pathway (GO:0001961)|positive regulation of ERK1 and ERK2 cascade (GO:0070374)|positive regulation of I-kappaB kinase/NF-kappaB signaling (GO:0043123)|positive regulation of immature T cell proliferation (GO:0033091)|positive regulation of interferon-alpha production (GO:0032727)|positive regulation of interferon-beta production (GO:0032728)|positive regulation of interferon-gamma production (GO:0032729)|positive regulation of interleukin-12 production (GO:0032735)|positive regulation of interleukin-2 production (GO:0032743)|positive regulation of interleukin-6 production (GO:0032755)|positive regulation of JNK cascade (GO:0046330)|positive regulation of NF-kappaB transcription factor activity (GO:0051092)|positive regulation of peptidyl-serine phosphorylation (GO:0033138)|positive regulation of peptidyl-threonine phosphorylation (GO:0010800)|positive regulation of peptidyl-tyrosine phosphorylation (GO:0050731)|positive regulation of protein ubiquitination (GO:0031398)|positive regulation of T-helper 1 cell differentiation (GO:0045627)|positive regulation of T-helper 1 type immune response (GO:0002827)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of tumor necrosis factor production (GO:0032760)|response to exogenous dsRNA (GO:0043330)|response to interleukin-1 (GO:0070555)|response to interleukin-12 (GO:0070671)|response to interleukin-18 (GO:0070673)|signal transduction (GO:0007165)|stress-activated MAPK cascade (GO:0051403)|T cell proliferation (GO:0042098)|T cell receptor signaling pathway (GO:0050852)|toll-like receptor 10 signaling pathway (GO:0034166)|toll-like receptor 2 signaling pathway (GO:0034134)|toll-like receptor 3 signaling pathway (GO:0034138)|toll-like receptor 4 signaling pathway (GO:0034142)|toll-like receptor 5 signaling pathway (GO:0034146)|toll-like receptor 9 signaling pathway (GO:0034162)|toll-like receptor signaling pathway (GO:0002224)|toll-like receptor TLR1:TLR2 signaling pathway (GO:0038123)|toll-like receptor TLR6:TLR2 signaling pathway (GO:0038124)|TRIF-dependent toll-like receptor signaling pathway (GO:0035666)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)|cytosol (GO:0005829)|protein complex (GO:0043234)|vesicle (GO:0031982)	ATP binding (GO:0005524)|CARD domain binding (GO:0050700)|LIM domain binding (GO:0030274)|non-membrane spanning protein tyrosine kinase activity (GO:0004715)|protein homodimerization activity (GO:0042803)|protein serine/threonine kinase activity (GO:0004674)|signal transducer activity (GO:0004871)			kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	10			BRCA - Breast invasive adenocarcinoma(11;0.0474)			TATCAAGCACGATATATATAGG	0.381																																						ENST00000220751.4																			0				kidney(1)|large_intestine(3)|lung(2)|ovary(2)|prostate(2)	10						c.(631-633)tatfs		receptor-interacting serine-threonine kinase 2																																				SO:0001589	frameshift_variant	8767				activation of MAPK activity|anti-apoptosis|apoptosis|inflammatory response|innate immune response|JNK cascade|MyD88-dependent toll-like receptor signaling pathway|MyD88-independent toll-like receptor signaling pathway|nerve growth factor receptor signaling pathway|positive regulation of I-kappaB kinase/NF-kappaB cascade|positive regulation of NF-kappaB transcription factor activity|positive regulation of protein ubiquitination|stress-activated MAPK cascade|T cell receptor signaling pathway|Toll signaling pathway|toll-like receptor 1 signaling pathway|toll-like receptor 2 signaling pathway|toll-like receptor 3 signaling pathway|toll-like receptor 4 signaling pathway	cytosol	ATP binding|CARD domain binding|LIM domain binding|protein homodimerization activity|protein serine/threonine kinase activity|signal transducer activity	g.chr8:90782147_90782148insAT	AC004003	CCDS6247.1	8q21	2008-05-02			ENSG00000104312	ENSG00000104312			10020	protein-coding gene	gene with protein product		603455				9575181, 9705938	Standard	XM_005251092		Approved	RICK, RIP2, CARDIAK, CARD3	uc003yee.3	O43353	OTTHUMG00000163809	ENST00000220751.4:c.638_639dupAT	8.37:g.90782154_90782155dupAT	ENSP00000220751:p.Asp211fs					RIPK2_ENST00000540020.1_Frame_Shift_Ins_p.Y74fs	p.Y211fs	NM_003821.5	NP_003812.1	O43353	RIPK2_HUMAN	BRCA - Breast invasive adenocarcinoma(11;0.0474)		4	945_946	+			211			Protein kinase.		B7Z748|Q6UWF0	Frame_Shift_Ins	INS	ENST00000220751.4	37	c.631_632insAT	CCDS6247.1																																																																																				0.381	RIPK2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375686.1			27	136						27	136	---	---	---	---
CNTLN	54875	broad.mit.edu	37	9	17135271	17135271	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr9:17135271delG	ENST00000380647.3	+	1	292	c.208delG	c.(208-210)gggfs	p.G71fs	CNTLN_ENST00000262360.5_Frame_Shift_Del_p.G71fs|CNTLN_ENST00000484374.1_3'UTR|CNTLN_ENST00000425824.1_Frame_Shift_Del_p.G71fs|CNTLN_ENST00000380641.4_Frame_Shift_Del_p.G71fs			Q9NXG0	CNTLN_HUMAN	centlein, centrosomal protein	71					centriole-centriole cohesion (GO:0010457)|protein localization to organelle (GO:0033365)	centriole (GO:0005814)|cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)|membrane (GO:0016020)	phosphorelay sensor kinase activity (GO:0000155)|protein binding, bridging (GO:0030674)|protein domain specific binding (GO:0019904)|protein kinase binding (GO:0019901)			breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53				GBM - Glioblastoma multiforme(50;6.14e-10)		GCGAGGGCCTGGGGGGGCAGC	0.687																																						ENST00000380647.3																			0				breast(6)|central_nervous_system(1)|endometrium(2)|haematopoietic_and_lymphoid_tissue(5)|kidney(3)|large_intestine(10)|lung(17)|ovary(1)|pancreas(1)|prostate(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	53						c.(208-210)ggfs		centlein, centrosomal protein			,	17,15,3612		0,0,17,0,15,1790					,	-9.0	0.0			16	35,39,7786		2,0,31,1,37,3859	no	codingComplex,codingComplex	CNTLN	NM_017738.2,NM_001114395.1	,	2,0,48,1,52,5649	A1A1,A1A2,A1R,A2A2,A2R,RR		0.9415,0.8782,0.9214	,	,		52,54,11398				SO:0001589	frameshift_variant	54875					centriole|membrane	two-component sensor activity	g.chr9:17135271delG	AK000283	CCDS43789.1, CCDS47953.1	9p22.2-p22.1	2008-11-11	2008-02-08	2008-02-08	ENSG00000044459	ENSG00000044459			23432	protein-coding gene	gene with protein product		611870	"""chromosome 9 open reading frame 101"", ""chromosome 9 open reading frame 39"""	C9orf101, C9orf39		18086554	Standard	XM_005251492		Approved	FLJ20276, bA340N12.1, OTTHUMG00000019597	uc003zmy.3	Q9NXG0	OTTHUMG00000019599	ENST00000380647.3:c.208delG	9.37:g.17135271delG	ENSP00000370021:p.Gly71fs					CNTLN_ENST00000380641.4_Frame_Shift_Del_p.G71fs|CNTLN_ENST00000484374.1_3'UTR|CNTLN_ENST00000425824.1_Frame_Shift_Del_p.G71fs|CNTLN_ENST00000262360.5_Frame_Shift_Del_p.G71fs	p.G71fs			Q9NXG0	CNTLN_HUMAN		GBM - Glioblastoma multiforme(50;6.14e-10)	1	292	+			71					A5Z2X6|Q5VYJ0|Q8N1G9|Q9HAJ5	Frame_Shift_Del	DEL	ENST00000380647.3	37	c.208delG	CCDS43789.1																																																																																				0.687	CNTLN-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000051793.3	NM_017738		10	17						10	17	---	---	---	---
OR13C4	138804	broad.mit.edu	37	9	107288624	107288624	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr9:107288624delG	ENST00000277216.3	-	1	866	c.867delC	c.(865-867)cccfs	p.P289fs		NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN	olfactory receptor, family 13, subfamily C, member 4	289						integral component of membrane (GO:0016021)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|olfactory receptor activity (GO:0004984)			breast(1)|large_intestine(2)|lung(14)|skin(1)	18						GGTTTAACATGGGGGTCACAA	0.403																																						ENST00000277216.3																			0				breast(1)|large_intestine(2)|lung(14)|skin(1)	18						c.(865-867)ccfs		olfactory receptor, family 13, subfamily C, member 4							56.0	57.0	57.0					9																	107288624		2203	4300	6503	SO:0001589	frameshift_variant	138804				sensory perception of smell	integral to membrane|plasma membrane	olfactory receptor activity	g.chr9:107288624delG		CCDS35088.1	9q31.1	2013-09-24			ENSG00000148136	ENSG00000148136		"""GPCR / Class A : Olfactory receptors"""	14722	protein-coding gene	gene with protein product							Standard	NM_001001919		Approved		uc011lvn.2	Q8NGS5	OTTHUMG00000020407	ENST00000277216.3:c.867delC	9.37:g.107288624delG	ENSP00000277216:p.Pro289fs						p.P289fs	NM_001001919.1	NP_001001919.1	Q8NGS5	O13C4_HUMAN			1	866	-			289					Q6IF51|Q96R41	Frame_Shift_Del	DEL	ENST00000277216.3	37	c.867delC	CCDS35088.1																																																																																				0.403	OR13C4-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000053478.1			20	34						20	34	---	---	---	---
NOTCH1	4851	broad.mit.edu	37	9	139399552	139399552	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr9:139399552delG	ENST00000277541.6	-	26	4666	c.4591delC	c.(4591-4593)ctgfs	p.L1531fs		NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN	notch 1	1531					anagen (GO:0042640)|aortic valve morphogenesis (GO:0003180)|apoptotic process involved in embryonic digit morphogenesis (GO:1902263)|arterial endothelial cell differentiation (GO:0060842)|atrioventricular node development (GO:0003162)|atrioventricular valve morphogenesis (GO:0003181)|auditory receptor cell fate commitment (GO:0009912)|axonogenesis (GO:0007409)|branching morphogenesis of an epithelial tube (GO:0048754)|cardiac atrium morphogenesis (GO:0003209)|cardiac chamber formation (GO:0003207)|cardiac epithelial to mesenchymal transition (GO:0060317)|cardiac left ventricle morphogenesis (GO:0003214)|cardiac muscle cell proliferation (GO:0060038)|cardiac muscle tissue morphogenesis (GO:0055008)|cardiac right atrium morphogenesis (GO:0003213)|cardiac right ventricle formation (GO:0003219)|cardiac septum morphogenesis (GO:0060411)|cardiac vascular smooth muscle cell development (GO:0060948)|cardiac ventricle morphogenesis (GO:0003208)|cell fate specification (GO:0001708)|cell migration involved in endocardial cushion formation (GO:0003273)|cellular response to follicle-stimulating hormone stimulus (GO:0071372)|cellular response to vascular endothelial growth factor stimulus (GO:0035924)|cilium morphogenesis (GO:0060271)|collecting duct development (GO:0072044)|compartment pattern specification (GO:0007386)|coronary artery morphogenesis (GO:0060982)|coronary vein morphogenesis (GO:0003169)|determination of left/right symmetry (GO:0007368)|distal tubule development (GO:0072017)|embryonic hindlimb morphogenesis (GO:0035116)|endocardial cell differentiation (GO:0060956)|endocardial cushion morphogenesis (GO:0003203)|endocardium development (GO:0003157)|endocardium morphogenesis (GO:0003160)|endoderm development (GO:0007492)|epithelial to mesenchymal transition (GO:0001837)|epithelial to mesenchymal transition involved in endocardial cushion formation (GO:0003198)|forebrain development (GO:0030900)|foregut morphogenesis (GO:0007440)|gene expression (GO:0010467)|glial cell differentiation (GO:0010001)|glomerular mesangial cell development (GO:0072144)|growth involved in heart morphogenesis (GO:0003241)|hair follicle morphogenesis (GO:0031069)|heart development (GO:0007507)|heart looping (GO:0001947)|heart trabecula morphogenesis (GO:0061384)|humoral immune response (GO:0006959)|immune response (GO:0006955)|in utero embryonic development (GO:0001701)|inflammatory response to antigenic stimulus (GO:0002437)|interleukin-4 secretion (GO:0072602)|keratinocyte differentiation (GO:0030216)|left/right axis specification (GO:0070986)|liver development (GO:0001889)|lung development (GO:0030324)|mesenchymal cell development (GO:0014031)|mitral valve formation (GO:0003192)|negative regulation of anoikis (GO:2000811)|negative regulation of BMP signaling pathway (GO:0030514)|negative regulation of calcium ion-dependent exocytosis (GO:0045955)|negative regulation of canonical Wnt signaling pathway (GO:0090090)|negative regulation of catalytic activity (GO:0043086)|negative regulation of cell migration involved in sprouting angiogenesis (GO:0090051)|negative regulation of cell proliferation (GO:0008285)|negative regulation of cell-substrate adhesion (GO:0010812)|negative regulation of endothelial cell chemotaxis (GO:2001027)|negative regulation of glial cell proliferation (GO:0060253)|negative regulation of myoblast differentiation (GO:0045662)|negative regulation of myotube differentiation (GO:0010832)|negative regulation of neurogenesis (GO:0050768)|negative regulation of oligodendrocyte differentiation (GO:0048715)|negative regulation of ossification (GO:0030279)|negative regulation of osteoblast differentiation (GO:0045668)|negative regulation of photoreceptor cell differentiation (GO:0046533)|negative regulation of pro-B cell differentiation (GO:2000974)|negative regulation of stem cell differentiation (GO:2000737)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neural tube development (GO:0021915)|neuronal stem cell maintenance (GO:0097150)|Notch receptor processing (GO:0007220)|Notch signaling involved in heart development (GO:0061314)|Notch signaling pathway (GO:0007219)|Notch signaling pathway involved in regulation of secondary heart field cardioblast proliferation (GO:0003270)|pericardium morphogenesis (GO:0003344)|positive regulation of apoptotic process (GO:0043065)|positive regulation of astrocyte differentiation (GO:0048711)|positive regulation of BMP signaling pathway (GO:0030513)|positive regulation of cardiac muscle cell proliferation (GO:0060045)|positive regulation of cell migration (GO:0030335)|positive regulation of cell proliferation (GO:0008284)|positive regulation of epithelial cell proliferation (GO:0050679)|positive regulation of epithelial to mesenchymal transition (GO:0010718)|positive regulation of JAK-STAT cascade (GO:0046427)|positive regulation of keratinocyte differentiation (GO:0045618)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription from RNA polymerase II promoter in response to hypoxia (GO:0061419)|positive regulation of transcription of Notch receptor target (GO:0007221)|positive regulation of transcription, DNA-templated (GO:0045893)|prostate gland epithelium morphogenesis (GO:0060740)|pulmonary valve morphogenesis (GO:0003184)|regulation of epithelial cell proliferation involved in prostate gland development (GO:0060768)|regulation of extracellular matrix assembly (GO:1901201)|regulation of somitogenesis (GO:0014807)|regulation of transcription from RNA polymerase II promoter involved in myocardial precursor cell differentiation (GO:0003256)|regulation of transcription, DNA-templated (GO:0006355)|response to muramyl dipeptide (GO:0032495)|secretory columnal luminar epithelial cell differentiation involved in prostate glandular acinus development (GO:0060528)|skeletal muscle cell differentiation (GO:0035914)|somatic stem cell division (GO:0048103)|sprouting angiogenesis (GO:0002040)|transcription initiation from RNA polymerase II promoter (GO:0006367)|tube formation (GO:0035148)|vasculogenesis involved in coronary vascular morphogenesis (GO:0060979)|venous endothelial cell differentiation (GO:0060843)|ventricular septum morphogenesis (GO:0060412)|ventricular trabecula myocardium morphogenesis (GO:0003222)	cell surface (GO:0009986)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|MAML1-RBP-Jkappa- ICN1 complex (GO:0002193)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)|chromatin DNA binding (GO:0031490)|core promoter binding (GO:0001047)|enzyme binding (GO:0019899)|enzyme inhibitor activity (GO:0004857)|receptor activity (GO:0004872)|RNA polymerase II transcription factor binding transcription factor activity involved in positive regulation of transcription (GO:0001190)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)			breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)		TGGTCGTACAGGGGGCTGTGG	0.726			"""T, Mis, O"""	TRB@	T-ALL					HNSCC(8;0.001)																												ENST00000277541.6				Dom	yes		9	9q34.3	4851	"""T, Mis, O"""	"""Notch homolog 1, translocation-associated (Drosophila) (TAN1)"""			L	TRB@		T-ALL		0				breast(16)|central_nervous_system(17)|cervix(2)|endometrium(7)|haematopoietic_and_lymphoid_tissue(1183)|kidney(4)|large_intestine(1)|lung(57)|oesophagus(2)|ovary(3)|pancreas(1)|prostate(3)|skin(21)|upper_aerodigestive_tract(39)|urinary_tract(3)	1359						c.(4591-4593)tgfs		notch 1							13.0	16.0	15.0					9																	139399552		2079	4203	6282	SO:0001589	frameshift_variant	4851				aortic valve morphogenesis|immune response|negative regulation of BMP signaling pathway|negative regulation of cell-substrate adhesion|negative regulation of myoblast differentiation|negative regulation of osteoblast differentiation|negative regulation of transcription, DNA-dependent|Notch receptor processing	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr9:139399552delG	AF308602	CCDS43905.1	9q34.3	2013-01-10	2010-06-24		ENSG00000148400	ENSG00000148400		"""Ankyrin repeat domain containing"""	7881	protein-coding gene	gene with protein product		190198	"""Notch (Drosophila) homolog 1 (translocation-associated)"", ""Notch homolog 1, translocation-associated (Drosophila)"""	TAN1		1831692	Standard	NM_017617		Approved		uc004chz.3	P46531	OTTHUMG00000020935	ENST00000277541.6:c.4591delC	9.37:g.139399552delG	ENSP00000277541:p.Leu1531fs	HNSCC(8;0.001)					p.L1531fs	NM_017617.3	NP_060087.3	P46531	NOTC1_HUMAN		OV - Ovarian serous cystadenocarcinoma(145;5.34e-06)|Epithelial(140;7.77e-06)	26	4666	-	all_cancers(76;0.223)	Myeloproliferative disorder(178;0.0511)	1531					Q59ED8|Q5SXM3	Frame_Shift_Del	DEL	ENST00000277541.6	37	c.4591delC	CCDS43905.1																																																																																				0.726	NOTCH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055087.1	NM_017617		12	36						12	36	---	---	---	---
C1QL3	389941	broad.mit.edu	37	10	16562928	16562928	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr10:16562928delG	ENST00000298943.3	-	1	1076	c.137delC	c.(136-138)acgfs	p.T46fs		NM_001010908.1	NP_001010908.1	Q5VWW1	C1QL3_HUMAN	complement component 1, q subcomponent-like 3	46					regulation of synapse organization (GO:0050807)	collagen trimer (GO:0005581)|extracellular region (GO:0005576)				breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	13						GCGGTCGGGCGTGGCAGCGGT	0.751																																						ENST00000298943.3																			0				breast(1)|endometrium(3)|kidney(1)|lung(4)|ovary(1)|prostate(1)|stomach(1)|upper_aerodigestive_tract(1)	13						c.(136-138)agfs		complement component 1, q subcomponent-like 3							5.0	8.0	7.0					10																	16562928		1916	3983	5899	SO:0001589	frameshift_variant	389941					collagen		g.chr10:16562928delG		CCDS31156.1	10p13	2012-03-26			ENSG00000165985	ENSG00000165985			19359	protein-coding gene	gene with protein product		615227				21378161	Standard	NM_001010908		Approved	K100, C1ql, C1QTNF13, CTRP13	uc001ioj.1	Q5VWW1	OTTHUMG00000017738	ENST00000298943.3:c.137delC	10.37:g.16562928delG	ENSP00000298943:p.Thr46fs						p.T46fs	NM_001010908.1	NP_001010908.1	Q5VWW1	C1QL3_HUMAN			1	1076	-			46					A0PJY4|A0PJY5	Frame_Shift_Del	DEL	ENST00000298943.3	37	c.137delC	CCDS31156.1																																																																																				0.751	C1QL3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047003.1	XM_372305		11	5						11	5	---	---	---	---
MYO3A	53904	broad.mit.edu	37	10	26462760	26462760	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr10:26462760delA	ENST00000265944.5	+	30	3733	c.3567delA	c.(3565-3567)ccafs	p.P1189fs	MYO3A_ENST00000543632.1_Intron	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN	myosin IIIA	1189					ATP catabolic process (GO:0006200)|inner ear development (GO:0048839)|peptidyl-serine phosphorylation (GO:0018105)|peptidyl-threonine phosphorylation (GO:0018107)|positive regulation of filopodium assembly (GO:0051491)|protein autophosphorylation (GO:0046777)|response to stimulus (GO:0050896)|sensory perception of sound (GO:0007605)|visual perception (GO:0007601)	cytoplasm (GO:0005737)|filamentous actin (GO:0031941)|filopodium (GO:0030175)|filopodium tip (GO:0032433)|myosin complex (GO:0016459)|photoreceptor inner segment (GO:0001917)|stereocilium bundle tip (GO:0032426)	actin-dependent ATPase activity (GO:0030898)|ADP binding (GO:0043531)|ATP binding (GO:0005524)|calmodulin binding (GO:0005516)|microfilament motor activity (GO:0000146)|plus-end directed microfilament motor activity (GO:0060002)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.M1192fs*1(2)		NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						ATCAGACTCCAAAAAAAATGA	0.403																																						ENST00000265944.5																			2	Deletion - Frameshift(2)	p.M1192fs*1(2)	ovary(1)|large_intestine(1)	NS(2)|breast(9)|central_nervous_system(3)|endometrium(9)|kidney(10)|large_intestine(28)|liver(1)|lung(46)|ovary(11)|pancreas(1)|prostate(6)|skin(11)|stomach(6)|upper_aerodigestive_tract(1)|urinary_tract(2)	146						c.(3565-3567)ccfs		myosin IIIA							67.0	66.0	67.0					10																	26462760		2203	4300	6503	SO:0001589	frameshift_variant	53904				protein autophosphorylation|response to stimulus|sensory perception of sound|visual perception	cytoplasm|filamentous actin|filopodium|myosin complex	actin binding|actin-dependent ATPase activity|ADP binding|ATP binding|calmodulin binding|plus-end directed microfilament motor activity|protein serine/threonine kinase activity	g.chr10:26462760delA	AF229172	CCDS7148.1	10p11.1	2011-09-27	2004-05-19		ENSG00000095777	ENSG00000095777		"""Myosins / Myosin superfamily : Class III"""	7601	protein-coding gene	gene with protein product		606808	"""deafness, autosomal recessive 30"""	DFNB30		10936054	Standard	NM_017433		Approved		uc001isn.2	Q8NEV4	OTTHUMG00000017837	ENST00000265944.5:c.3567delA	10.37:g.26462760delA	ENSP00000265944:p.Pro1189fs					MYO3A_ENST00000543632.1_Intron	p.P1189fs	NM_017433.4	NP_059129.3	Q8NEV4	MYO3A_HUMAN			30	3733	+			1189					Q4G0X2|Q5VZ28|Q8WX17|Q9NYS8	Frame_Shift_Del	DEL	ENST00000265944.5	37	c.3567delA	CCDS7148.1																																																																																				0.403	MYO3A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047259.1	NM_017433		14	34						14	34	---	---	---	---
ANKRD26	22852	broad.mit.edu	37	10	27337806	27337808	+	In_Frame_Del	DEL	CAT	CAT	-	rs561705414	byFrequency	TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr10:27337806_27337808delCAT	ENST00000376087.4	-	17	1901_1903	c.1736_1738delATG	c.(1735-1740)gatgga>gga	p.D579del	ANKRD26_ENST00000436985.2_In_Frame_Del_p.D595del|ANKRD26_ENST00000376070.3_In_Frame_Del_p.D136del	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN	ankyrin repeat domain 26	579	Poly-Asp.				glucose homeostasis (GO:0042593)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of fat cell differentiation (GO:0045599)|negative regulation of insulin receptor signaling pathway (GO:0046627)|negative regulation of multicellular organism growth (GO:0040015)|negative regulation of organ growth (GO:0046621)|regulation of fatty acid metabolic process (GO:0019217)|regulation of feeding behavior (GO:0060259)	actin filament (GO:0005884)|centrosome (GO:0005813)				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						TGAATTAATCcatcatcatcatc	0.345														3	0.000599042	0.0	0.0	5008	,	,		17873	0.001		0.0	False		,,,				2504	0.002					ENST00000376087.4																			0				breast(4)|cervix(1)|endometrium(9)|haematopoietic_and_lymphoid_tissue(2)|kidney(1)|large_intestine(14)|lung(30)|ovary(1)|pancreas(1)|prostate(3)|skin(2)|urinary_tract(2)	70						c.(1735-1740)gga>g		ankyrin repeat domain 26																																				SO:0001651	inframe_deletion	22852					centrosome		g.chr10:27337806_27337808delCAT	AB028997	CCDS41499.1	10p12.1	2014-09-17			ENSG00000107890	ENSG00000107890		"""Ankyrin repeat domain containing"""	29186	protein-coding gene	gene with protein product		610855	"""thrombocytopenia 2 (autosomal dominant)"""	THC2		10470851, 21211618	Standard	NM_014915		Approved	KIAA1074	uc009xku.1	Q9UPS8	OTTHUMG00000017851	ENST00000376087.4:c.1736_1738delATG	10.37:g.27337815_27337817delCAT	ENSP00000365255:p.Asp579del					ANKRD26_ENST00000436985.2_In_Frame_Del_p.DG595del|ANKRD26_ENST00000376070.3_In_Frame_Del_p.DG136del	p.DG579del	NM_001256053.1|NM_014915.2	NP_001242982.1|NP_055730.2	Q9UPS8	ANR26_HUMAN			17	1901_1903	-			579			Poly-Asp.		A6NH29|Q2TAZ3|Q6ZR14|Q9H1Q1|Q9NSK9|Q9NTD5|Q9NW69	In_Frame_Del	DEL	ENST00000376087.4	37	c.1736_1738delATG	CCDS41499.1																																																																																				0.345	ANKRD26-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000047296.1			8	18						8	18	---	---	---	---
CTNNA3	29119	broad.mit.edu	37	10	68940199	68940199	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr10:68940199delA	ENST00000433211.2	-	7	1097	c.923delT	c.(922-924)atcfs	p.I308fs	CTNNA3_ENST00000545309.1_Frame_Shift_Del_p.I308fs|CTNNA3_ENST00000373744.4_Frame_Shift_Del_p.I308fs	NM_013266.2	NP_037398.2			catenin (cadherin-associated protein), alpha 3											breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						AGCCCCACTGATAATGGCTTC	0.473																																						ENST00000433211.1																			0				breast(1)|central_nervous_system(1)|cervix(2)|endometrium(6)|haematopoietic_and_lymphoid_tissue(1)|kidney(4)|large_intestine(14)|liver(1)|lung(50)|ovary(2)|pancreas(2)|prostate(2)|skin(7)|stomach(1)|urinary_tract(1)	95						c.(922-924)acfs		catenin (cadherin-associated protein), alpha 3							137.0	125.0	129.0					10																	68940199		2203	4300	6503	SO:0001589	frameshift_variant	29119				cell-cell adhesion	actin cytoskeleton|cytoplasm|fascia adherens	cadherin binding|structural molecule activity	g.chr10:68940199delA	AF091606	CCDS7269.1	10q21	2006-11-24			ENSG00000183230	ENSG00000183230			2511	protein-coding gene	gene with protein product		607667				12596047, 11590244	Standard	XM_005269717		Approved	VR22, MGC26194	uc001jmw.2	Q9UI47	OTTHUMG00000018334	ENST00000433211.2:c.923delT	10.37:g.68940199delA	ENSP00000389714:p.Ile308fs					CTNNA3_ENST00000494580.1_5'UTR|CTNNA3_ENST00000373744.4_Frame_Shift_Del_p.I308fs|CTNNA3_ENST00000545309.1_Frame_Shift_Del_p.I308fs	p.I308fs	NM_013266.2	NP_037398.2	Q9UI47	CTNA3_HUMAN			7	1097	-			308						Frame_Shift_Del	DEL	ENST00000433211.2	37	c.923delT	CCDS7269.1																																																																																				0.473	CTNNA3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000048282.2	NM_013266		27	57						27	57	---	---	---	---
TALDO1	6888	broad.mit.edu	37	11	764345	764347	+	In_Frame_Del	DEL	ACA	ACA	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:764345_764347delACA	ENST00000319006.3	+	7	1046_1048	c.893_895delACA	c.(892-897)cacaac>cac	p.N299del	TALDO1_ENST00000528097.1_In_Frame_Del_p.T298del			P37837	TALDO_HUMAN	transaldolase 1	299					carbohydrate metabolic process (GO:0005975)|energy reserve metabolic process (GO:0006112)|fructose 6-phosphate metabolic process (GO:0006002)|glyceraldehyde-3-phosphate metabolic process (GO:0019682)|pentose-phosphate shunt (GO:0006098)|pentose-phosphate shunt, non-oxidative branch (GO:0009052)|small molecule metabolic process (GO:0044281)|xylulose biosynthetic process (GO:0005999)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|extracellular vesicular exosome (GO:0070062)|nucleus (GO:0005634)	monosaccharide binding (GO:0048029)|sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity (GO:0004801)			breast(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(2)	14		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)		all cancers(45;4.66e-26)|Epithelial(43;2.97e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.48e-19)|BRCA - Breast invasive adenocarcinoma(625;4.41e-05)|Lung(200;0.0595)|LUSC - Lung squamous cell carcinoma(625;0.0712)		CGTTGGTTGCACAACGAGGACCA	0.557																																						ENST00000319006.3																			0				breast(1)|kidney(2)|large_intestine(5)|lung(4)|prostate(2)	14						c.(892-897)cac>c		transaldolase 1																																				SO:0001651	inframe_deletion	6888				energy reserve metabolic process|xylulose biosynthetic process	cytosol	protein binding|sedoheptulose-7-phosphate:D-glyceraldehyde-3-phosphate glyceronetransferase activity	g.chr11:764345_764347delACA		CCDS7712.1	11p15.5-p15.4	2009-12-02			ENSG00000177156	ENSG00000177156	2.2.1.2		11559	protein-coding gene	gene with protein product		602063				9339383	Standard	NM_006755		Approved		uc001lqz.3	P37837	OTTHUMG00000133318	ENST00000319006.3:c.893_895delACA	11.37:g.764345_764347delACA	ENSP00000321259:p.Asn299del					TALDO1_ENST00000528097.1_In_Frame_Del_p.T298del	p.HN298del			P37837	TALDO_HUMAN		all cancers(45;4.66e-26)|Epithelial(43;2.97e-25)|OV - Ovarian serous cystadenocarcinoma(40;1.48e-19)|BRCA - Breast invasive adenocarcinoma(625;4.41e-05)|Lung(200;0.0595)|LUSC - Lung squamous cell carcinoma(625;0.0712)	7	1046_1048	+		all_cancers(49;1.13e-08)|all_epithelial(84;2.95e-05)|Breast(177;0.000286)|Ovarian(85;0.000953)|Medulloblastoma(188;0.0109)|all_neural(188;0.0299)|Lung NSC(207;0.159)|all_lung(207;0.198)	298					B2R8M2|O00751|Q8WV32|Q8WZ45	In_Frame_Del	DEL	ENST00000319006.3	37	c.893_895delACA	CCDS7712.1																																																																																				0.557	TALDO1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000257116.1	NM_006755		23	64						23	64	---	---	---	---
NR1H3	10062	broad.mit.edu	37	11	47282886	47282887	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:47282886_47282887insC	ENST00000467728.1	+	4	1832_1833	c.594_595insC	c.(595-597)cccfs	p.P199fs	NR1H3_ENST00000527949.1_Frame_Shift_Ins_p.P108fs|NR1H3_ENST00000407404.1_Frame_Shift_Ins_p.P199fs|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000395397.3_Frame_Shift_Ins_p.P154fs|NR1H3_ENST00000405853.3_Frame_Shift_Ins_p.P199fs|NR1H3_ENST00000481889.2_Frame_Shift_Ins_p.P154fs|NR1H3_ENST00000441012.2_Frame_Shift_Ins_p.P199fs|NR1H3_ENST00000405576.1_Frame_Shift_Ins_p.P154fs			Q13133	NR1H3_HUMAN	nuclear receptor subfamily 1, group H, member 3	199					apoptotic cell clearance (GO:0043277)|cellular lipid metabolic process (GO:0044255)|cellular response to lipopolysaccharide (GO:0071222)|cholesterol homeostasis (GO:0042632)|gene expression (GO:0010467)|lipid homeostasis (GO:0055088)|negative regulation of cholesterol storage (GO:0010887)|negative regulation of inflammatory response (GO:0050728)|negative regulation of interferon-gamma-mediated signaling pathway (GO:0060336)|negative regulation of lipid transport (GO:0032369)|negative regulation of macrophage activation (GO:0043031)|negative regulation of macrophage derived foam cell differentiation (GO:0010745)|negative regulation of pancreatic juice secretion (GO:0090188)|negative regulation of pinocytosis (GO:0048550)|negative regulation of proteolysis (GO:0045861)|negative regulation of secretion of lysosomal enzymes (GO:0090341)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of cellular protein metabolic process (GO:0032270)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of cholesterol homeostasis (GO:2000189)|positive regulation of cholesterol transport (GO:0032376)|positive regulation of fatty acid biosynthetic process (GO:0045723)|positive regulation of lipoprotein lipase activity (GO:0051006)|positive regulation of receptor biosynthetic process (GO:0010870)|positive regulation of toll-like receptor 4 signaling pathway (GO:0034145)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription, DNA-templated (GO:0045893)|positive regulation of triglyceride biosynthetic process (GO:0010867)|regulation of cholesterol homeostasis (GO:2000188)|regulation of circadian rhythm (GO:0042752)|response to progesterone (GO:0032570)|sterol homeostasis (GO:0055092)|transcription initiation from RNA polymerase II promoter (GO:0006367)|triglyceride homeostasis (GO:0070328)	nuclear chromatin (GO:0000790)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	cholesterol binding (GO:0015485)|DNA binding (GO:0003677)|ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|steroid hormone receptor activity (GO:0003707)|sterol response element binding (GO:0032810)|transcription coactivator activity (GO:0003713)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)			endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						GGGCTTCCTCACCCCCCCAAAT	0.594																																						ENST00000467728.1																			0				endometrium(1)|kidney(2)|large_intestine(6)|lung(6)|ovary(5)	20						c.(592-597)tcccccfs		nuclear receptor subfamily 1, group H, member 3			,,	9,4255		0,9,2123					,,	-10.7	0.0			55	7,8247		0,7,4120	no	frameshift,frameshift,frameshift	NR1H3	NM_005693.2,NM_001130102.1,NM_001130101.1	,,	0,16,6243	A1A1,A1R,RR		0.0848,0.2111,0.1278	,,	,,		16,12502				SO:0001589	frameshift_variant	10062				apoptotic cell clearance|cellular response to lipopolysaccharide|cholesterol homeostasis|negative regulation of cholesterol storage|negative regulation of inflammatory response|negative regulation of interferon-gamma-mediated signaling pathway|negative regulation of lipid transport|negative regulation of macrophage activation|negative regulation of pancreatic juice secretion|negative regulation of pinocytosis|negative regulation of secretion of lysosomal enzymes|negative regulation of transcription from RNA polymerase II promoter|positive regulation of cellular protein metabolic process|positive regulation of cholesterol efflux|positive regulation of cholesterol homeostasis|positive regulation of fatty acid biosynthetic process|positive regulation of lipoprotein lipase activity|positive regulation of receptor biosynthetic process|positive regulation of toll-like receptor 4 signaling pathway|positive regulation of transcription from RNA polymerase II promoter|positive regulation of triglyceride biosynthetic process|regulation of circadian rhythm|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|response to progesterone stimulus|triglyceride homeostasis	nuclear chromatin|nucleoplasm	cholesterol binding|steroid hormone receptor activity|sterol response element binding|transcription coactivator activity|zinc ion binding	g.chr11:47282886_47282887insC	U22662	CCDS7929.1, CCDS44584.1, CCDS44585.1, CCDS73285.1	11p11.2	2013-01-16			ENSG00000025434	ENSG00000025434		"""Nuclear hormone receptors"""	7966	protein-coding gene	gene with protein product	"""liver X receptor-alpha"""	602423				8621574, 7744246	Standard	NM_005693		Approved	LXR-a, RLD-1	uc009ylm.3	Q13133	OTTHUMG00000150628	ENST00000467728.1:c.601dupC	11.37:g.47282893_47282893dupC	ENSP00000420656:p.Pro199fs					NR1H3_ENST00000405853.3_Frame_Shift_Ins_p.SP198fs|NR1H3_ENST00000527949.1_Frame_Shift_Ins_p.SP107fs|NR1H3_ENST00000395397.3_Frame_Shift_Ins_p.SP153fs|NR1H3_ENST00000405576.1_Frame_Shift_Ins_p.SP153fs|NR1H3_ENST00000529540.1_3'UTR|NR1H3_ENST00000441012.2_Frame_Shift_Ins_p.SP198fs|NR1H3_ENST00000481889.2_Frame_Shift_Ins_p.SP153fs|NR1H3_ENST00000407404.1_Frame_Shift_Ins_p.SP198fs	p.SP198fs			Q13133	NR1H3_HUMAN			4	1832_1833	+			198					A8K3J9|D3DQR1|Q8IW13|Q96H87	Frame_Shift_Ins	INS	ENST00000467728.1	37	c.594_595insC	CCDS7929.1																																																																																				0.594	NR1H3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000319214.3			11	52						11	52	---	---	---	---
FADS2	9415	broad.mit.edu	37	11	61596024	61596024	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:61596024delG	ENST00000278840.4	+	1	792	c.162delG	c.(160-162)ccgfs	p.P54fs	FADS2_ENST00000257261.6_Intron|FADS2_ENST00000522056.1_Intron|FADS2_ENST00000521849.1_Frame_Shift_Del_p.P54fs	NM_004265.2	NP_004256.1	O95864	FADS2_HUMAN	fatty acid desaturase 2	54	Cytochrome b5 heme-binding. {ECO:0000255|PROSITE-ProRule:PRU00279}.				alpha-linolenic acid metabolic process (GO:0036109)|linoleic acid metabolic process (GO:0043651)|small molecule metabolic process (GO:0044281)|unsaturated fatty acid biosynthetic process (GO:0006636)|unsaturated fatty acid metabolic process (GO:0033559)	endoplasmic reticulum membrane (GO:0005789)|integral component of plasma membrane (GO:0005887)|membrane (GO:0016020)	heme binding (GO:0020037)|iron ion binding (GO:0005506)|stearoyl-CoA 9-desaturase activity (GO:0004768)	p.Q57fs*22(1)		breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20					Alpha-Linolenic Acid(DB00132)	TCCAGCACCCGGGGGGCCAGC	0.607											OREG0021015	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000278840.4																			1	Insertion - Frameshift(1)	p.Q57fs*22(1)	ovary(1)	breast(2)|kidney(2)|large_intestine(4)|liver(1)|lung(2)|ovary(2)|pancreas(1)|prostate(3)|skin(2)|upper_aerodigestive_tract(1)	20						c.(160-162)ccfs		fatty acid desaturase 2	Alpha-Linolenic Acid(DB00132)						39.0	45.0	43.0					11																	61596024		2202	4299	6501	SO:0001589	frameshift_variant	9415				electron transport chain|transport|unsaturated fatty acid biosynthetic process	endoplasmic reticulum membrane|integral to plasma membrane|membrane fraction	heme binding	g.chr11:61596024delG	AF084559	CCDS8012.1, CCDS60807.1, CCDS60808.1	11q12.2	2013-01-25			ENSG00000134824	ENSG00000134824	1.14.19.3	"""Fatty acid desaturases"""	3575	protein-coding gene	gene with protein product	"""delta-6-desaturase"""	606149		LLCDL2			Standard	NM_004265		Approved	FADSD6, D6D, TU13, DES6, SLL0262	uc001nsl.1	O95864	OTTHUMG00000163794	ENST00000278840.4:c.162delG	11.37:g.61596024delG	ENSP00000278840:p.Pro54fs		OREG0021015	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	1054	FADS2_ENST00000257261.6_Intron|FADS2_ENST00000522056.1_Intron|FADS2_ENST00000521849.1_Frame_Shift_Del_p.P54fs	p.P54fs	NM_004265.2	NP_004256.1	O95864	FADS2_HUMAN			1	792	+			54			Cytochrome b5 heme-binding.		A8K2M6|B7Z634|Q6MZQ7|Q96H07|Q96SV8|Q9H3G3|Q9Y3X4	Frame_Shift_Del	DEL	ENST00000278840.4	37	c.162delG	CCDS8012.1																																																																																				0.607	FADS2-003	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000375586.2	NM_004265		24	70						24	70	---	---	---	---
MRPL21	219927	broad.mit.edu	37	11	68664141	68664141	+	Frame_Shift_Del	DEL	C	C	-	rs140815939	byFrequency	TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:68664141delC	ENST00000362034.2	-	4	247	c.238delG	c.(238-240)gtgfs	p.V80fs	MRPL21_ENST00000450904.2_5'UTR|MRPL21_ENST00000567045.1_5'UTR	NM_181514.1|NM_181515.1	NP_852615.1|NP_852616.1	Q7Z2W9	RM21_HUMAN	mitochondrial ribosomal protein L21	80					translation (GO:0006412)	mitochondrion (GO:0005739)|ribosome (GO:0005840)	poly(A) RNA binding (GO:0044822)|structural constituent of ribosome (GO:0003735)			large_intestine(1)|lung(6)|prostate(1)	8			STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)			ACCTTCTTCACGACCTCTGCA	0.627																																						ENST00000362034.2																			0				large_intestine(1)|lung(6)|prostate(1)	8						c.(238-240)tgfs		mitochondrial ribosomal protein L21							121.0	106.0	111.0					11																	68664141		2200	4294	6494	SO:0001589	frameshift_variant	219927				translation	mitochondrion|ribosome	RNA binding|structural constituent of ribosome	g.chr11:68664141delC	AK096756	CCDS8186.1, CCDS44662.1	11q13.3	2012-09-13			ENSG00000197345	ENSG00000197345		"""Mitochondrial ribosomal proteins / large subunits"""	14479	protein-coding gene	gene with protein product		611834				11551941	Standard	NM_181514		Approved		uc001ooi.3	Q7Z2W9	OTTHUMG00000167893	ENST00000362034.2:c.238delG	11.37:g.68664141delC	ENSP00000354580:p.Val80fs					MRPL21_ENST00000450904.2_5'UTR|MRPL21_ENST00000567045.1_5'UTR	p.V80fs	NM_181514.1|NM_181515.1	NP_852615.1|NP_852616.1	Q7Z2W9	RM21_HUMAN	STAD - Stomach adenocarcinoma(18;0.0208)|LUAD - Lung adenocarcinoma(13;0.0713)		4	247	-			80					A6NKU0|C9JPR2	Frame_Shift_Del	DEL	ENST00000362034.2	37	c.238delG	CCDS8186.1																																																																																				0.627	MRPL21-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000396856.1	NM_181512		27	99						27	99	---	---	---	---
FOLH1B	219595	broad.mit.edu	37	11	89403521	89403522	+	RNA	INS	-	-	T	rs566310014|rs370122765	byFrequency	TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:89403521_89403522insT	ENST00000532352.1	+	0	908							Q9HBA9	FOH1B_HUMAN	folate hydrolase 1B							cytoplasm (GO:0005737)|extracellular vesicular exosome (GO:0070062)	dipeptidase activity (GO:0016805)|metal ion binding (GO:0046872)|metallopeptidase activity (GO:0008237)			breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48						GTTTTGTTTTGTTTTTTTTCAA	0.332													?|TTTTTTTT|TTTTTTTTT|unsure	3	0.000599042	0.0	0.0014	5008	,	,		20450	0.0		0.0	False		,,,				2504	0.002					ENST00000532352.1																			0				breast(1)|central_nervous_system(1)|endometrium(1)|kidney(2)|large_intestine(7)|lung(26)|ovary(4)|skin(4)|urinary_tract(2)	48								folate hydrolase 1B				3,4261		0,3,2129							0.0			57	8,8246		0,8,4119	no	intron	FOLH1B	NM_153696.2		0,11,6248	A1A1,A1R,RR		0.0969,0.0704,0.0879				11,12507						219595				proteolysis	cytoplasm	dipeptidase activity|metal ion binding|metallopeptidase activity	g.chr11:89403521_89403522insT	AF261715		11q14.3	2014-03-18			ENSG00000134612	ENSG00000134612			13636	protein-coding gene	gene with protein product	"""prostate specific membrane antigen like protein"", ""Cell growth-inhibiting gene 26 protein"", ""glutamate carboxypeptidase III"""	609020	"""folate hydrolase 2"""	FOLH2, FOLHP		9838072, 14716746	Standard	NM_153696		Approved	PSMAL, GCPIII	uc001pda.3	Q9HBA9	OTTHUMG00000167376		11.37:g.89403529_89403529dupT										Q9HBA9	FOH1B_HUMAN			0	908	+									RNA	INS	ENST00000532352.1	37																																																																																						0.332	FOLH1B-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000395421.1	NM_153696		10	19						10	19	---	---	---	---
LOC643733	643733	broad.mit.edu	37	11	104774281	104774282	+	RNA	INS	-	-	A	rs34300286		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:104774281_104774282insA	ENST00000532510.1	-	0	3258																											TGCTGAACCTGAAAAAGAAAGT	0.436																																						ENST00000532510.1																			0																																																			643733							g.chr11:104774281_104774282insA																													11.37:g.104774286_104774286dupA														0	3258	-									RNA	INS	ENST00000532510.1	37																																																																																						0.436	RP11-693N9.2-004	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000387738.1			11	12						11	12	---	---	---	---
HYLS1	219844	broad.mit.edu	37	11	125770093	125770093	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:125770093delG	ENST00000425380.2	+	3	1611	c.830delG	c.(829-831)tggfs	p.W277fs	PUS3_ENST00000227474.3_Intron|HYLS1_ENST00000526028.1_Frame_Shift_Del_p.W277fs|HYLS1_ENST00000356438.3_Frame_Shift_Del_p.W277fs	NM_001134793.1	NP_001128265.1	Q96M11	HYLS1_HUMAN	hydrolethalus syndrome 1	277						centrosome (GO:0005813)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)				breast(1)|endometrium(1)|large_intestine(3)|skin(3)|upper_aerodigestive_tract(1)	9	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0446)		GCACTCCGTTGGGGTGTTCGT	0.428																																					Esophageal Squamous(172;2590 2636 8884 10471)	ENST00000425380.2																			0				breast(1)|endometrium(1)|large_intestine(3)|skin(3)|upper_aerodigestive_tract(1)	9						c.(829-831)tgfs		hydrolethalus syndrome 1							96.0	93.0	94.0					11																	125770093		2201	4299	6500	SO:0001589	frameshift_variant	219844					centrosome|nucleus		g.chr11:125770093delG	AK057477	CCDS8467.1	11q24	2014-06-18				ENSG00000198331			26558	protein-coding gene	gene with protein product		610693				15843405	Standard	NM_145014		Approved	FLJ32915	uc009zbv.3	Q96M11		ENST00000425380.2:c.830delG	11.37:g.125770093delG	ENSP00000414884:p.Trp277fs					HYLS1_ENST00000356438.3_Frame_Shift_Del_p.W277fs|HYLS1_ENST00000526028.1_Frame_Shift_Del_p.W277fs|PUS3_ENST00000227474.3_Intron	p.W277fs	NM_001134793.1	NP_001128265.1	Q96M11	HYLS1_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.13e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0446)	3	1611	+	all_hematologic(175;0.177)	Breast(109;0.0115)|Medulloblastoma(222;0.0523)|Lung NSC(97;0.131)|all_lung(97;0.139)|all_neural(223;0.224)	277					B3KXI8|Q96BX9	Frame_Shift_Del	DEL	ENST00000425380.2	37	c.830delG	CCDS8467.1																																																																																				0.428	HYLS1-002	PUTATIVE	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386733.1	NM_145014		13	47						13	47	---	---	---	---
SRPR	6734	broad.mit.edu	37	11	126137087	126137087	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr11:126137087delT	ENST00000332118.6	-	4	663	c.509delA	c.(508-510)aagfs	p.K170fs	SRPR_ENST00000532259.1_Frame_Shift_Del_p.K142fs|SRPR_ENST00000530680.1_5'Flank|FOXRED1_ENST00000263578.5_5'Flank|FOXRED1_ENST00000532125.1_5'Flank|FOXRED1_ENST00000442061.2_5'Flank	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN	signal recognition particle receptor (docking protein)	170					activation of signaling protein activity involved in unfolded protein response (GO:0006987)|cellular protein metabolic process (GO:0044267)|cotranslational protein targeting to membrane (GO:0006613)|endoplasmic reticulum unfolded protein response (GO:0030968)|gene expression (GO:0010467)|SRP-dependent cotranslational protein targeting to membrane (GO:0006614)|translation (GO:0006412)	endoplasmic reticulum (GO:0005783)|endoplasmic reticulum membrane (GO:0005789)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|membrane (GO:0016020)|signal recognition particle receptor complex (GO:0005785)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)|poly(A) RNA binding (GO:0044822)|signal recognition particle binding (GO:0005047)	p.K170fs*33(2)		endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21	all_hematologic(175;0.145)			BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)		CTTGGCCCCCTTTTTTTTGCT	0.438																																						ENST00000332118.6																			2	Deletion - Frameshift(2)	p.K170fs*33(2)	ovary(2)	endometrium(7)|large_intestine(2)|lung(9)|ovary(2)|prostate(1)	21						c.(508-510)agfs		signal recognition particle receptor (docking protein)							347.0	340.0	342.0					11																	126137087		2201	4299	6500	SO:0001589	frameshift_variant	6734				SRP-dependent cotranslational protein targeting to membrane	integral to membrane|signal recognition particle receptor complex	GTP binding|GTPase activity|receptor activity|signal recognition particle binding	g.chr11:126137087delT	BC001162	CCDS31717.1, CCDS53722.1	11q24-q25	2012-10-02	2008-10-29		ENSG00000182934	ENSG00000182934			11307	protein-coding gene	gene with protein product		182180	"""signal recognition particle receptor ('docking protein')"""			3340536, 1312991	Standard	NM_001177842		Approved	SRP-alpha, Sralpha	uc001qdh.3	P08240	OTTHUMG00000165826	ENST00000332118.6:c.509delA	11.37:g.126137087delT	ENSP00000328023:p.Lys170fs					SRPR_ENST00000532259.1_Frame_Shift_Del_p.K142fs	p.K170fs	NM_003139.3	NP_003130.2	P08240	SRPR_HUMAN		BRCA - Breast invasive adenocarcinoma(274;1.1e-06)|OV - Ovarian serous cystadenocarcinoma(99;0.0736)	4	663	-	all_hematologic(175;0.145)		170					A6NIB3|B2R5Z8|B4E0H3|E9PJS4|Q9BVJ4	Frame_Shift_Del	DEL	ENST00000332118.6	37	c.509delA	CCDS31717.1																																																																																				0.438	SRPR-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000386425.2	NM_003139		14	357						14	357	---	---	---	---
DCP1B	196513	broad.mit.edu	37	12	2064701	2064701	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr12:2064701delT	ENST00000280665.6	-	6	627	c.548delA	c.(547-549)aagfs	p.K183fs	DCP1B_ENST00000397173.4_Frame_Shift_Del_p.K81fs|DCP1B_ENST00000541700.1_Intron|DCP1B_ENST00000540622.1_Frame_Shift_Del_p.K57fs	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	decapping mRNA 1B	183					exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay (GO:0043928)|gene expression (GO:0010467)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay (GO:0000184)|RNA metabolic process (GO:0016070)	cytoplasm (GO:0005737)|cytosol (GO:0005829)|intracellular membrane-bounded organelle (GO:0043231)|membrane (GO:0016020)|nucleus (GO:0005634)	hydrolase activity (GO:0016787)			NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24			OV - Ovarian serous cystadenocarcinoma(31;0.00193)			ACTGGTTATCTTTTTTGGCTC	0.378																																						ENST00000280665.6																			0				NS(1)|breast(1)|endometrium(6)|kidney(2)|large_intestine(3)|lung(10)|skin(1)	24						c.(547-549)agfs		decapping mRNA 1B							190.0	184.0	186.0					12																	2064701		2203	4300	6503	SO:0001589	frameshift_variant	196513				exonucleolytic nuclear-transcribed mRNA catabolic process involved in deadenylation-dependent decay|nuclear-transcribed mRNA catabolic process, nonsense-mediated decay	cytosol|nucleus	hydrolase activity|protein binding	g.chr12:2064701delT	AY146652	CCDS31727.1	12p13.33	2013-05-02	2013-05-02		ENSG00000151065	ENSG00000151065			24451	protein-coding gene	gene with protein product		609843	"""DCP1 decapping enzyme homolog B (S. cerevisiae)"""			12417715, 15067023	Standard	NM_152640		Approved	FLJ31638	uc001qjx.1	Q8IZD4	OTTHUMG00000168113	ENST00000280665.6:c.548delA	12.37:g.2064701delT	ENSP00000280665:p.Lys183fs					DCP1B_ENST00000397173.4_Frame_Shift_Del_p.K81fs|DCP1B_ENST00000540622.1_Frame_Shift_Del_p.K57fs|DCP1B_ENST00000541700.1_Intron	p.K183fs	NM_152640.3	NP_689853.3	Q8IZD4	DCP1B_HUMAN	OV - Ovarian serous cystadenocarcinoma(31;0.00193)		6	627	-			183					B4DRD1|Q86XH9|Q96BP8|Q96MZ8	Frame_Shift_Del	DEL	ENST00000280665.6	37	c.548delA	CCDS31727.1																																																																																				0.378	DCP1B-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000398244.1	NM_152640		43	110						43	110	---	---	---	---
ATN1	1822	broad.mit.edu	37	12	7047140	7047141	+	Frame_Shift_Del	DEL	GC	GC	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr12:7047140_7047141delGC	ENST00000356654.4	+	6	2664_2665	c.2427_2428delGC	c.(2425-2430)cagcgcfs	p.R810fs	ATN1_ENST00000396684.2_Frame_Shift_Del_p.R810fs	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN	atrophin 1	810	Ala/Arg-rich.				cell migration (GO:0016477)|central nervous system development (GO:0007417)|maintenance of cell polarity (GO:0030011)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|neuron apoptotic process (GO:0051402)|toxin metabolic process (GO:0009404)|transcription, DNA-templated (GO:0006351)	cell junction (GO:0030054)|cytoplasm (GO:0005737)|nuclear matrix (GO:0016363)|nucleus (GO:0005634)	protein domain specific binding (GO:0019904)|transcription corepressor activity (GO:0003714)			breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						AGGCCGAGCAGCGCGCGCGCGA	0.693											OREG0021641	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000356654.4																			0				breast(5)|central_nervous_system(1)|endometrium(3)|kidney(1)|large_intestine(4)|lung(15)|ovary(2)|pancreas(1)|prostate(1)|skin(4)|upper_aerodigestive_tract(1)|urinary_tract(2)	40						c.(2425-2430)cagcfs		atrophin 1																																				SO:0001589	frameshift_variant	1822				cell death|central nervous system development	cytoplasm|nucleus	protein domain specific binding	g.chr12:7047140_7047141delGC	U23851	CCDS31734.1	12p	2007-08-01	2005-03-15	2005-03-17		ENSG00000111676			3033	protein-coding gene	gene with protein product		607462	"""dentatorubral-pallidoluysian atrophy (atrophin-1)"""	D12S755E, DRPLA		8136826	Standard	NM_001940		Approved	B37	uc001qrw.1	P54259		ENST00000356654.4:c.2427_2428delGC	12.37:g.7047148_7047149delGC	ENSP00000349076:p.Arg810fs		OREG0021641	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	638	ATN1_ENST00000396684.2_Frame_Shift_Del_p.QR809fs	p.QR809fs	NM_001007026.1	NP_001007027.1	P54259	ATN1_HUMAN			6	2664_2665	+			809			Ala/Arg-rich.		Q99495|Q99621|Q9UEK7	Frame_Shift_Del	DEL	ENST00000356654.4	37	c.2427_2428delGC	CCDS31734.1																																																																																				0.693	ATN1-002	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000401948.2	NM_001940		2	4						2	4	---	---	---	---
KMT2D	8085	broad.mit.edu	37	12	49431874	49431874	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr12:49431874delC	ENST00000301067.7	-	34	9264	c.9265delG	c.(9265-9267)gtgfs	p.V3089fs	KMT2D_ENST00000549743.1_5'Flank	NM_003482.3	NP_003473.3	O14686	KMT2D_HUMAN	lysine (K)-specific methyltransferase 2D	3089					chromatin silencing (GO:0006342)|histone H3-K4 methylation (GO:0051568)|oocyte growth (GO:0001555)|oogenesis (GO:0048477)|positive regulation of cell proliferation (GO:0008284)|positive regulation of intracellular estrogen receptor signaling pathway (GO:0033148)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|regulation of transcription, DNA-templated (GO:0006355)|response to estrogen (GO:0043627)|transcription, DNA-templated (GO:0006351)	histone methyltransferase complex (GO:0035097)|nucleus (GO:0005634)	DNA binding (GO:0003677)|histone-lysine N-methyltransferase activity (GO:0018024)|transcription regulatory region DNA binding (GO:0044212)|zinc ion binding (GO:0008270)	p.V2819fs*9(1)|p.V3089fs*9(1)									CCTGGCTCCACCCCCCGCAGC	0.622																																						ENST00000301067.7																			2	Insertion - Frameshift(2)	p.V2819fs*9(1)|p.V3089fs*9(1)	large_intestine(2)								c.(9265-9267)tgfs		lysine (K)-specific methyltransferase 2D							40.0	40.0	40.0					12																	49431874		1964	4143	6107	SO:0001589	frameshift_variant	8085							g.chr12:49431874delC	AF010403	CCDS44873.1	12q13.12	2013-05-09	2013-05-09	2013-05-09	ENSG00000167548	ENSG00000167548		"""Chromatin-modifying enzymes / K-methyltransferases"", ""Zinc fingers, PHD-type"""	7133	protein-coding gene	gene with protein product		602113	"""trinucleotide repeat containing 21"", ""myeloid/lymphoid or mixed-lineage leukemia 2"""	TNRC21, MLL2		9247308	Standard	NM_003482		Approved	ALR, MLL4, CAGL114		O14686	OTTHUMG00000166524	ENST00000301067.7:c.9265delG	12.37:g.49431874delC	ENSP00000301067:p.Val3089fs						p.V3089fs	NM_003482.3	NP_003473.3					34	9264	-								O14687	Frame_Shift_Del	DEL	ENST00000301067.7	37	c.9265delG	CCDS44873.1																																																																																				0.622	KMT2D-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000390183.2			19	19						19	19	---	---	---	---
EIF4B	1975	broad.mit.edu	37	12	53400274	53400275	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr12:53400274_53400275insC	ENST00000262056.9	+	1	333_334	c.7_8insC	c.(7-9)gccfs	p.A3fs	EIF4B_ENST00000416762.3_Frame_Shift_Ins_p.A3fs|EIF4B_ENST00000551527.1_3'UTR|EIF4B_ENST00000420463.3_Frame_Shift_Ins_p.A3fs	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN	eukaryotic translation initiation factor 4B	3					cellular protein metabolic process (GO:0044267)|gene expression (GO:0010467)|insulin receptor signaling pathway (GO:0008286)|mRNA metabolic process (GO:0016071)|nuclear-transcribed mRNA catabolic process, deadenylation-dependent decay (GO:0000288)|nuclear-transcribed mRNA poly(A) tail shortening (GO:0000289)|regulation of translational initiation (GO:0006446)|RNA metabolic process (GO:0016070)|translation (GO:0006412)|translational initiation (GO:0006413)	cytosol (GO:0005829)|eukaryotic translation initiation factor 4F complex (GO:0016281)	nucleotide binding (GO:0000166)|poly(A) RNA binding (GO:0044822)|RNA binding (GO:0003723)|translation initiation factor activity (GO:0003743)			breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						CAACATGGCGGCCTCAGGTGAG	0.614																																						ENST00000262056.9																			0				breast(4)|endometrium(2)|haematopoietic_and_lymphoid_tissue(1)|kidney(1)|large_intestine(2)|lung(10)|stomach(1)|upper_aerodigestive_tract(1)	22						c.(7-9)ctcfs		eukaryotic translation initiation factor 4B																																				SO:0001589	frameshift_variant	1975				insulin receptor signaling pathway|nuclear-transcribed mRNA poly(A) tail shortening|regulation of translational initiation	cytosol|eukaryotic translation initiation factor 4F complex	nucleotide binding|translation initiation factor activity	g.chr12:53400274_53400275insC	X55733	CCDS41788.1, CCDS73474.1	12q13.13	2013-02-12			ENSG00000063046	ENSG00000063046		"""RNA binding motif (RRM) containing"""	3285	protein-coding gene	gene with protein product		603928					Standard	XM_005268709		Approved		uc001sbh.4	P23588	OTTHUMG00000169570	ENST00000262056.9:c.9dupC	12.37:g.53400276_53400276dupC	ENSP00000262056:p.Ala3fs					EIF4B_ENST00000551527.1_3'UTR|EIF4B_ENST00000420463.3_Frame_Shift_Ins_p.L3fs|EIF4B_ENST00000416762.3_Frame_Shift_Ins_p.L3fs	p.L3fs	NM_001417.4	NP_001408.2	P23588	IF4B_HUMAN			1	333_334	+			3					Q4G0E3|Q53HQ2|Q6GPH5|Q6IB46|Q8WYK5	Frame_Shift_Ins	INS	ENST00000262056.9	37	c.7_8insC	CCDS41788.1																																																																																				0.614	EIF4B-001	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000404852.2	NM_001417		117	85						117	85	---	---	---	---
LRP1	4035	broad.mit.edu	37	12	57603503	57603503	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr12:57603503delC	ENST00000243077.3	+	80	12757	c.12291delC	c.(12289-12291)gtcfs	p.V4097fs		NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN	low density lipoprotein receptor-related protein 1	4097					aging (GO:0007568)|aorta morphogenesis (GO:0035909)|apoptotic cell clearance (GO:0043277)|beta-amyloid clearance (GO:0097242)|cell proliferation (GO:0008283)|cholesterol metabolic process (GO:0008203)|lipoprotein metabolic process (GO:0042157)|lipoprotein transport (GO:0042953)|negative regulation of neuron apoptotic process (GO:0043524)|negative regulation of platelet-derived growth factor receptor-beta signaling pathway (GO:2000587)|negative regulation of smooth muscle cell migration (GO:0014912)|negative regulation of Wnt signaling pathway (GO:0030178)|phototransduction, visible light (GO:0007603)|positive regulation of cholesterol efflux (GO:0010875)|positive regulation of lipid transport (GO:0032370)|positive regulation of protein transport (GO:0051222)|protein kinase C-activating G-protein coupled receptor signaling pathway (GO:0007205)|receptor-mediated endocytosis (GO:0006898)|regulation of actin cytoskeleton organization (GO:0032956)|regulation of cholesterol transport (GO:0032374)|regulation of phospholipase A2 activity (GO:0032429)|retinoid metabolic process (GO:0001523)	clathrin-coated vesicle (GO:0030136)|coated pit (GO:0005905)|dendrite (GO:0030425)|endocytic vesicle membrane (GO:0030666)|endosome (GO:0005768)|focal adhesion (GO:0005925)|integral component of plasma membrane (GO:0005887)|lysosomal membrane (GO:0005765)|neuronal cell body (GO:0043025)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	apolipoprotein binding (GO:0034185)|calcium ion binding (GO:0005509)|lipoprotein particle receptor binding (GO:0070325)|lipoprotein transporter activity (GO:0042954)|poly(A) RNA binding (GO:0044822)|protein complex binding (GO:0032403)|receptor activity (GO:0004872)			NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184				BRCA - Breast invasive adenocarcinoma(357;0.0103)	Antihemophilic Factor(DB00025)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)	GCATCGACGTCTTTGAGGATT	0.562																																						ENST00000243077.3																			0				NS(1)|breast(9)|central_nervous_system(3)|cervix(3)|endometrium(33)|haematopoietic_and_lymphoid_tissue(4)|kidney(10)|large_intestine(26)|lung(58)|ovary(10)|pancreas(2)|prostate(11)|skin(7)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(5)	184						c.(12289-12291)gtfs		low density lipoprotein receptor-related protein 1	Alteplase(DB00009)|Anistreplase(DB00029)|Antihemophilic Factor(DB00025)|Becaplermin(DB00102)|Coagulation Factor IX(DB00100)|Tenecteplase(DB00031)						121.0	104.0	110.0					12																	57603503		2203	4300	6503	SO:0001589	frameshift_variant	4035				aorta morphogenesis|apoptotic cell clearance|negative regulation of platelet-derived growth factor receptor-beta signaling pathway|negative regulation of smooth muscle cell migration|negative regulation of Wnt receptor signaling pathway|positive regulation of cholesterol efflux|regulation of actin cytoskeleton organization|regulation of phospholipase A2 activity	coated pit|integral to plasma membrane|nucleus	apolipoprotein E binding|calcium ion binding|lipoprotein transporter activity|protein complex binding|receptor activity	g.chr12:57603503delC	X13916	CCDS8932.1	12q13.3	2013-05-28	2010-01-26		ENSG00000123384	ENSG00000123384		"""CD molecules"", ""Low density lipoprotein receptors"""	6692	protein-coding gene	gene with protein product		107770	"""alpha-2-macroglobulin receptor"""	APR, A2MR		2548950	Standard	NM_002332		Approved	LRP, CD91, LRP1A, APOER	uc001snd.3	Q07954	OTTHUMG00000044412	ENST00000243077.3:c.12291delC	12.37:g.57603503delC	ENSP00000243077:p.Val4097fs						p.V4097fs	NM_002332.2	NP_002323.2	Q07954	LRP1_HUMAN		BRCA - Breast invasive adenocarcinoma(357;0.0103)	80	12757	+			4097					Q2PP12|Q86SW0|Q8IVG8	Frame_Shift_Del	DEL	ENST00000243077.3	37	c.12291delC	CCDS8932.1																																																																																				0.562	LRP1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000412772.2	NM_002332		55	32						55	32	---	---	---	---
HNF1A	6927	broad.mit.edu	37	12	121432115	121432115	+	Frame_Shift_Del	DEL	G	G	-	rs539507291		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr12:121432115delG	ENST00000257555.6	+	4	1088	c.862delG	c.(862-864)gggfs	p.G288fs	HNF1A_ENST00000402929.1_Frame_Shift_Del_p.G288fs|HNF1A_ENST00000543427.1_Frame_Shift_Del_p.G171fs|HNF1A_ENST00000538626.1_Intron|HNF1A_ENST00000544413.1_Frame_Shift_Del_p.G288fs|HNF1A_ENST00000400024.2_Frame_Shift_Del_p.G288fs|HNF1A_ENST00000541395.1_Frame_Shift_Del_p.G288fs			P20823	HNF1A_HUMAN	HNF1 homeobox A	288					glucose homeostasis (GO:0042593)|glucose import (GO:0046323)|insulin secretion (GO:0030073)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transcription initiation from RNA polymerase II promoter (GO:0060261)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|renal glucose absorption (GO:0035623)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|protein complex (GO:0043234)	DNA binding (GO:0003677)|protein dimerization activity (GO:0046983)|protein heterodimerization activity (GO:0046982)|protein homodimerization activity (GO:0042803)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription (GO:0001077)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription regulatory region DNA binding (GO:0044212)			breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)					CACGTACAGCGGGCCCCCCCC	0.672									Hepatic Adenoma, Familial Clustering of																													ENST00000257555.6																			0				breast(3)|central_nervous_system(2)|cervix(1)|endometrium(8)|large_intestine(19)|liver(175)|lung(9)|ovary(2)|prostate(1)|urinary_tract(1)	221	GRCh37	CX035684	HNF1A	X		c.(862-864)ggfs		HNF1 homeobox A				816,3446		86,644,1401	24.0	24.0	24.0			-0.8	1.0	12		26	2268,5980		343,1582,2199	no	frameshift	HNF1A	NM_000545.5		429,2226,3600	A1A1,A1R,RR		27.4976,19.1459,24.6523			121432115	3084,9426	2203	4298	6501	SO:0001589	frameshift_variant	6927	Hepatic Adenoma, Familial Clustering of	Familial Cancer Database	incl. Maturity-Onset Diabetes of the Young type 3, MODY3	glucose homeostasis|glucose import|insulin secretion|positive regulation of transcription initiation from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|renal glucose absorption	cytoplasm|nucleus|protein complex	DNA binding|protein dimerization activity|protein heterodimerization activity|protein homodimerization activity|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in positive regulation of transcription|sequence-specific DNA binding transcription factor activity|transcription regulatory region DNA binding	g.chr12:121432115delG	M57732	CCDS9209.1	12q24.31	2014-09-17	2007-08-24	2007-08-24	ENSG00000135100	ENSG00000135100		"""Homeoboxes / HNF class"""	11621	protein-coding gene	gene with protein product		142410	"""transcription factor 1, hepatic; LF-B1, hepatic nuclear factor (HNF1), albumin proximal factor"""	MODY3, TCF1		1535333, 7795649	Standard	NM_000545		Approved	HNF1, LFB1	uc001tzg.3	P20823	OTTHUMG00000151015	ENST00000257555.6:c.862delG	12.37:g.121432115delG	ENSP00000257555:p.Gly288fs					HNF1A_ENST00000400024.2_Frame_Shift_Del_p.G288fs|HNF1A_ENST00000538626.1_Intron|HNF1A_ENST00000541395.1_Frame_Shift_Del_p.G288fs|HNF1A_ENST00000544413.1_Frame_Shift_Del_p.G288fs|HNF1A_ENST00000543427.1_Frame_Shift_Del_p.G171fs|HNF1A_ENST00000402929.1_Frame_Shift_Del_p.G288fs	p.G288fs			P20823	HNF1A_HUMAN			4	1088	+	all_neural(191;0.0684)|Medulloblastoma(191;0.0922)		288					A5Z2R8|E0YMJ5|E0YMK0|E0YMK1|E2I9R4|E2I9R5|F5H5U3|Q2M3H2|Q99861	Frame_Shift_Del	DEL	ENST00000257555.6	37	c.862delG	CCDS9209.1																																																																																				0.672	HNF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000320957.5	NM_000545		6	13						6	13	---	---	---	---
B3GALTL	145173	broad.mit.edu	37	13	31803392	31803392	+	Frame_Shift_Del	DEL	A	A	-	rs141154947		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr13:31803392delA	ENST00000343307.4	+	4	380	c.231delA	c.(229-231)ttafs	p.L77fs		NM_194318.3	NP_919299.3	Q6Y288	B3GLT_HUMAN	beta 1,3-galactosyltransferase-like	77					fucose metabolic process (GO:0006004)|protein glycosylation (GO:0006486)	endoplasmic reticulum (GO:0005783)|integral component of membrane (GO:0016021)	transferase activity, transferring glycosyl groups (GO:0016757)			breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19		Lung SC(185;0.0257)		all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184)		CAGAGCAGTTAAAAAAAAGCA	0.373																																						ENST00000343307.4																			0				breast(1)|cervix(1)|kidney(1)|large_intestine(4)|lung(7)|ovary(2)|prostate(1)|skin(1)|upper_aerodigestive_tract(1)	19						c.(229-231)ttfs		beta 1,3-galactosyltransferase-like							55.0	52.0	53.0					13																	31803392		2203	4300	6503	SO:0001589	frameshift_variant	145173				fucose metabolic process	endoplasmic reticulum membrane|integral to membrane	transferase activity, transferring glycosyl groups	g.chr13:31803392delA	AB101481	CCDS9341.1	13q12.3	2014-03-24			ENSG00000187676	ENSG00000187676		"""Beta 3-glycosyltransferases"""	20207	protein-coding gene	gene with protein product		610308				12943678, 16899492, 17032646	Standard	NM_194318		Approved	B3GTL, B3Glc-T	uc010aaz.3	Q6Y288	OTTHUMG00000016688	ENST00000343307.4:c.231delA	13.37:g.31803392delA	ENSP00000343002:p.Leu77fs						p.L77fs	NM_194318.3	NP_919299.3	Q6Y288	B3GLT_HUMAN		all cancers(112;0.00436)|Epithelial(112;0.0285)|OV - Ovarian serous cystadenocarcinoma(117;0.0512)|GBM - Glioblastoma multiforme(144;0.184)	4	380	+		Lung SC(185;0.0257)	77					A8K5F8|Q5W0H2|Q6NUI3	Frame_Shift_Del	DEL	ENST00000343307.4	37	c.231delA	CCDS9341.1																																																																																				0.373	B3GALTL-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044396.3	NM_194318		26	48						26	48	---	---	---	---
KBTBD6	89890	broad.mit.edu	37	13	41704811	41704811	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr13:41704811delA	ENST00000379485.1	-	1	2071	c.1837delT	c.(1837-1839)tgcfs	p.C613fs	KBTBD6_ENST00000499385.2_Frame_Shift_Del_p.C547fs	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN	kelch repeat and BTB (POZ) domain containing 6	613										NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)		GCAGAGAGGCAAAAAAAGTTA	0.418																																						ENST00000379485.1																			0				NS(1)|breast(1)|endometrium(8)|kidney(4)|large_intestine(9)|lung(9)|ovary(1)|prostate(2)|skin(4)|urinary_tract(4)	43						c.(1837-1839)gcfs		kelch repeat and BTB (POZ) domain containing 6							161.0	153.0	156.0					13																	41704811		2203	4300	6503	SO:0001589	frameshift_variant	89890						protein binding	g.chr13:41704811delA	AK056633	CCDS9376.1	13q13.3	2013-01-08			ENSG00000165572	ENSG00000165572		"""BTB/POZ domain containing"""	25340	protein-coding gene	gene with protein product						12477932	Standard	NM_152903		Approved	DKFZp547E1912	uc001uxu.1	Q86V97	OTTHUMG00000016786	ENST00000379485.1:c.1837delT	13.37:g.41704811delA	ENSP00000368799:p.Cys613fs					KBTBD6_ENST00000499385.2_Frame_Shift_Del_p.C547fs	p.C613fs	NM_152903.4	NP_690867.3	Q86V97	KBTB6_HUMAN		all cancers(112;4.08e-09)|Epithelial(112;4.74e-06)|OV - Ovarian serous cystadenocarcinoma(117;0.000131)|GBM - Glioblastoma multiforme(144;0.000876)|BRCA - Breast invasive adenocarcinoma(63;0.0673)	1	2071	-		Lung NSC(96;4.52e-06)|Breast(139;0.00123)|Prostate(109;0.0181)|Lung SC(185;0.0262)|Hepatocellular(98;0.114)	613					Q5T6Y8|Q8N8L0|Q8NDM5|Q96MP6	Frame_Shift_Del	DEL	ENST00000379485.1	37	c.1837delT	CCDS9376.1																																																																																				0.418	KBTBD6-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000044657.1	NM_152903		24	79						24	79	---	---	---	---
SPG11	80208	broad.mit.edu	37	15	44853282	44853284	+	IGR	DEL	GAT	GAT	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr15:44853282_44853284delGAT	ENST00000261866.7	-	0	7774				EIF3J_ENST00000424492.3_In_Frame_Del_p.D190del|RP11-151N17.1_ENST00000558006.1_RNA|EIF3J_ENST00000535391.1_In_Frame_Del_p.D185del|EIF3J_ENST00000261868.5_In_Frame_Del_p.D239del	NM_025137.3	NP_079413.3	Q96JI7	SPTCS_HUMAN	spastic paraplegia 11 (autosomal recessive)						cell death (GO:0008219)	cytoplasm (GO:0005737)|cytoplasmic vesicle (GO:0031410)|extracellular vesicular exosome (GO:0070062)|integral component of membrane (GO:0016021)|lysosomal membrane (GO:0005765)|nucleolus (GO:0005730)|plasma membrane (GO:0005886)				autonomic_ganglia(1)|breast(5)|central_nervous_system(1)|cervix(1)|endometrium(2)|kidney(4)|large_intestine(16)|lung(24)|ovary(5)|prostate(3)|skin(3)|stomach(2)|upper_aerodigestive_tract(3)|urinary_tract(2)	72		all_cancers(109;1.29e-14)|all_epithelial(112;1.26e-12)|Lung NSC(122;1.34e-07)|all_lung(180;1.21e-06)|Melanoma(134;0.0122)		all cancers(107;2.93e-22)|GBM - Glioblastoma multiforme(94;1.55e-06)|COAD - Colon adenocarcinoma(120;0.0432)|Colorectal(105;0.0484)|Lung(196;0.104)|LUSC - Lung squamous cell carcinoma(244;0.214)		CACCATGAAAGATGATCTGGCAG	0.384																																						ENST00000261868.5																			0				endometrium(1)|large_intestine(5)|liver(2)|skin(1)	9						c.(712-714)del		eukaryotic translation initiation factor 3, subunit J																																				SO:0001628	intergenic_variant	8669					cytosol|eukaryotic translation initiation factor 3 complex	protein binding|translation initiation factor activity	g.chr15:44853282_44853284delGAT		CCDS10112.1, CCDS53939.1	15q13-q15	2007-11-13			ENSG00000104133	ENSG00000104133			11226	protein-coding gene	gene with protein product	"""spatacsin"""	610844	"""KIAA1840"""	KIAA1840		10408536, 17322883	Standard	NM_001160227		Approved	FLJ21439	uc001ztx.3	Q96JI7	OTTHUMG00000131199		15.37:g.44853285_44853287delGAT						EIF3J_ENST00000535391.1_In_Frame_Del_p.D185del|EIF3J_ENST00000424492.3_In_Frame_Del_p.D190del	p.D239del	NM_003758.2	NP_003749.2	O75822	EIF3J_HUMAN		all cancers(107;3.13e-20)|GBM - Glioblastoma multiforme(94;9.81e-07)|COAD - Colon adenocarcinoma(120;0.0754)|Colorectal(105;0.0758)	8	850_852	+		all_cancers(109;2.81e-14)|all_epithelial(112;2.8e-12)|Lung NSC(122;1.66e-07)|all_lung(180;1.47e-06)|Melanoma(134;0.0122)	239					A8KAX9|B9EK60|F5H3N6|Q4VC11|Q58G86|Q69YG6|Q6NW01|Q8N270|Q8TBU9|Q9H734	In_Frame_Del	DEL	ENST00000261866.7	37	c.712_714delGAT	CCDS10112.1																																																																																				0.384	SPG11-001	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000253927.1			53	139						53	139	---	---	---	---
NR2F2	7026	broad.mit.edu	37	15	96875743	96875743	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr15:96875743delA	ENST00000394166.3	+	1	1798	c.409delA	c.(409-411)aaafs	p.K138fs	NR2F2_ENST00000394171.2_5'Flank|NR2F2_ENST00000453270.2_5'Flank|MIR1469_ENST00000410719.1_RNA|NR2F2_ENST00000421109.2_Intron	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	nuclear receptor subfamily 2, group F, member 2	138	Interaction with ZFPM2. {ECO:0000250}.				anterior/posterior pattern specification (GO:0009952)|blood vessel morphogenesis (GO:0048514)|fertilization (GO:0009566)|forebrain development (GO:0030900)|intracellular receptor signaling pathway (GO:0030522)|limb development (GO:0060173)|lipid metabolic process (GO:0006629)|maternal placenta development (GO:0001893)|negative regulation of cyclin-dependent protein serine/threonine kinase activity (GO:0045736)|negative regulation of endothelial cell migration (GO:0010596)|negative regulation of endothelial cell proliferation (GO:0001937)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|negative regulation of transcription, DNA-templated (GO:0045892)|neuron migration (GO:0001764)|placenta blood vessel development (GO:0060674)|positive regulation of transcription, DNA-templated (GO:0045893)|radial pattern formation (GO:0009956)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription involved in lymphatic endothelial cell fate commitment (GO:0060849)|response to estradiol (GO:0032355)|signal transduction (GO:0007165)|skeletal muscle tissue development (GO:0007519)|trophoblast giant cell differentiation (GO:0060707)	nucleus (GO:0005634)	ligand-activated sequence-specific DNA binding RNA polymerase II transcription factor activity (GO:0004879)|protein homodimerization activity (GO:0042803)|retinoic acid binding (GO:0001972)|sequence-specific DNA binding (GO:0043565)|sequence-specific DNA binding transcription factor activity (GO:0003700)|steroid hormone receptor activity (GO:0003707)|transcription corepressor activity (GO:0003714)|zinc ion binding (GO:0008270)			breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		OV - Ovarian serous cystadenocarcinoma(32;0.0856)			CTGCCGCCTCAAAAAGTGCCT	0.612																																						ENST00000394166.3																			0				breast(1)|endometrium(1)|kidney(1)|large_intestine(6)|liver(2)|lung(3)|ovary(2)|urinary_tract(1)	17						c.(409-411)aafs		nuclear receptor subfamily 2, group F, member 2							73.0	67.0	69.0					15																	96875743		2197	4298	6495	SO:0001589	frameshift_variant	7026				lipid metabolic process|negative regulation of cyclin-dependent protein kinase activity|negative regulation of endothelial cell migration|negative regulation of endothelial cell proliferation|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription, DNA-dependent|regulation of transcription involved in lymphatic endothelial cell fate commitment	nucleus	ligand-regulated transcription factor activity|protein homodimerization activity|retinoic acid binding|sequence-specific DNA binding|sequence-specific DNA binding transcription factor activity|steroid hormone receptor activity|transcription corepressor activity|zinc ion binding	g.chr15:96875743delA	M64497	CCDS10375.1, CCDS45358.1, CCDS45359.1	15q26	2013-01-16			ENSG00000185551	ENSG00000185551		"""Nuclear hormone receptors"""	7976	protein-coding gene	gene with protein product		107773		ARP1, TFCOUP2		8530078, 11544252	Standard	NM_021005		Approved	COUP-TFII, COUPTFB, SVP40, NF-E3	uc010uri.2	P24468	OTTHUMG00000149848	ENST00000394166.3:c.409delA	15.37:g.96875743delA	ENSP00000377721:p.Lys138fs					NR2F2_ENST00000421109.2_Intron	p.K138fs	NM_021005.3	NP_066285.1	P24468	COT2_HUMAN	OV - Ovarian serous cystadenocarcinoma(32;0.0856)		1	1798	+	Lung NSC(78;0.0186)|Melanoma(26;0.0195)|all_lung(78;0.0297)		138			Interaction with ZFPM2 (By similarity).		B4DQJ2|B6ZGU1|Q03754|Q3KQR7	Frame_Shift_Del	DEL	ENST00000394166.3	37	c.409delA	CCDS10375.1																																																																																				0.612	NR2F2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000313534.1			43	71						43	71	---	---	---	---
DNM1P47	100216544	broad.mit.edu	37	15	102292874	102292876	+	RNA	DEL	CTC	CTC	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr15:102292874_102292876delCTC	ENST00000561463.1	+	0	920_922									DNM1 pseudogene 47																		AGTTCATCTTCTCAGAGCTGCTG	0.581																																						ENST00000561463.1																			0																																																			100216544							g.chr15:102292874_102292876delCTC	AJ576276		15q26.3	2013-04-25			ENSG00000259660	ENSG00000259660			35200	pseudogene	pseudogene				DNM1DN14@			Standard	NG_009149		Approved	DNM1DN14-3			OTTHUMG00000172265		15.37:g.102292874_102292876delCTC														0	920_922	+									RNA	DEL	ENST00000561463.1	37																																																																																						0.581	DNM1P47-001	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000417589.1	NG_009149		2	4						2	4	---	---	---	---
NLRP1	22861	broad.mit.edu	37	17	5462268	5462268	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:5462268delT	ENST00000572272.1	-	4	1747	c.1748delA	c.(1747-1749)aagfs	p.K583fs	NLRP1_ENST00000577119.1_Frame_Shift_Del_p.K583fs|NLRP1_ENST00000269280.4_Frame_Shift_Del_p.K583fs|NLRP1_ENST00000262467.5_Frame_Shift_Del_p.K583fs|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000345221.3_Frame_Shift_Del_p.K583fs|NLRP1_ENST00000354411.3_Frame_Shift_Del_p.K583fs			Q9C000	NALP1_HUMAN	NLR family, pyrin domain containing 1	583	NACHT. {ECO:0000255|PROSITE- ProRule:PRU00136}.				activation of cysteine-type endopeptidase activity involved in apoptotic process (GO:0006919)|apoptotic process (GO:0006915)|defense response to bacterium (GO:0042742)|innate immune response (GO:0045087)|neuron apoptotic process (GO:0051402)|nucleotide-binding domain, leucine rich repeat containing receptor signaling pathway (GO:0035872)|positive regulation of interleukin-1 beta secretion (GO:0050718)|regulation of inflammatory response (GO:0050727)|response to muramyl dipeptide (GO:0032495)	cytosol (GO:0005829)|intracellular (GO:0005622)|NLRP1 inflammasome complex (GO:0072558)|nucleus (GO:0005634)	ATP binding (GO:0005524)|cysteine-type endopeptidase activator activity involved in apoptotic process (GO:0008656)|enzyme binding (GO:0019899)|protein domain specific binding (GO:0019904)			breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65		Colorectal(1115;3.48e-05)				GAAAAGGGTCTTTTTTTGCCA	0.532																																						ENST00000345221.3																			0				breast(4)|central_nervous_system(1)|cervix(1)|endometrium(7)|kidney(2)|large_intestine(17)|liver(5)|lung(17)|ovary(1)|prostate(3)|skin(4)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	65						c.(1747-1749)agfs		NLR family, pyrin domain containing 1							56.0	58.0	57.0					17																	5462268		2203	4300	6503	SO:0001589	frameshift_variant	22861				defense response to bacterium|induction of apoptosis|neuron apoptosis|positive regulation of interleukin-1 beta secretion|response to muramyl dipeptide	cytoplasm|NALP1 inflammasome complex|nucleus	ATP binding|caspase activator activity|enzyme binding|protein domain specific binding	g.chr17:5462268delT	AB023143	CCDS32537.1, CCDS42244.1, CCDS42245.1, CCDS42246.1, CCDS58508.1	17p13	2014-01-29	2006-12-08	2006-12-08	ENSG00000091592	ENSG00000091592		"""Nucleotide-binding domain and leucine rich repeat containing"""	14374	protein-coding gene	gene with protein product	"""nucleotide-binding oligomerization domain, leucine rich repeat and pyrin domain containing 1"""	606636	"""NACHT, leucine rich repeat and PYD (pyrin domain) containing 1"", ""systemic lupus erythematosus, vitiligo-related 1"""	NALP1, SLEV1		8781126, 12563287, 17377159	Standard	NM_033006		Approved	KIAA0926, DKFZp586O1822, CARD7, NAC, CLR17.1, DEFCAP, VAMAS1	uc002gci.3	Q9C000		ENST00000572272.1:c.1748delA	17.37:g.5462268delT	ENSP00000460475:p.Lys583fs					NLRP1_ENST00000262467.5_Frame_Shift_Del_p.K583fs|NLRP1_ENST00000269280.4_Frame_Shift_Del_p.K583fs|NLRP1_ENST00000354411.3_Frame_Shift_Del_p.K583fs|NLRP1_ENST00000571307.1_5'UTR|NLRP1_ENST00000577119.1_Frame_Shift_Del_p.K583fs|NLRP1_ENST00000572272.1_Frame_Shift_Del_p.K583fs	p.K583fs	NM_014922.4|NM_033004.3|NM_033007.3	NP_055737.1|NP_127497.1|NP_127500.1	Q9C000	NALP1_HUMAN			4	2302	-		Colorectal(1115;3.48e-05)	583			NACHT.		E9PE50|I6L9D9|Q9BZZ8|Q9BZZ9|Q9H5Z7|Q9H5Z8|Q9HAV8|Q9UFT4|Q9Y2E0	Frame_Shift_Del	DEL	ENST00000572272.1	37	c.1748delA	CCDS42246.1																																																																																				0.532	NLRP1-011	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000439517.1	NM_033004		21	50						21	50	---	---	---	---
MYH1	4619	broad.mit.edu	37	17	10419786	10419786	+	Frame_Shift_Del	DEL	C	C	-	rs147810417		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:10419786delC	ENST00000226207.5	-	3	268	c.174delG	c.(172-174)gggfs	p.G58fs	RP11-799N11.1_ENST00000399342.2_RNA|CTC-297N7.11_ENST00000587182.2_RNA|RP11-799N11.1_ENST00000581304.1_RNA	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN	myosin, heavy chain 1, skeletal muscle, adult	58					muscle contraction (GO:0006936)	A band (GO:0031672)|cytoplasmic ribonucleoprotein granule (GO:0036464)|intercalated disc (GO:0014704)|muscle myosin complex (GO:0005859)|myosin filament (GO:0032982)	ATP binding (GO:0005524)|motor activity (GO:0003774)			NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						CTGTCACCTTCCCCCCTTCCC	0.473																																						ENST00000226207.5																			0				NS(7)|breast(4)|central_nervous_system(1)|endometrium(16)|haematopoietic_and_lymphoid_tissue(1)|kidney(10)|large_intestine(22)|lung(78)|ovary(11)|pancreas(1)|prostate(3)|skin(13)|upper_aerodigestive_tract(4)|urinary_tract(5)	176						c.(172-174)ggfs		myosin, heavy chain 1, skeletal muscle, adult							226.0	208.0	214.0					17																	10419786		2203	4300	6503	SO:0001589	frameshift_variant	4619					muscle myosin complex|myofibril|myosin filament	actin binding|ATP binding|calmodulin binding|motor activity	g.chr17:10419786delC		CCDS11155.1	17p13.1	2013-09-19	2006-09-29		ENSG00000109061	ENSG00000109061		"""Myosins / Myosin superfamily : Class II"""	7567	protein-coding gene	gene with protein product	"""myosin heavy chain IIx/d"""	160730	"""myosin, heavy polypeptide 1, skeletal muscle, adult"""			6304733	Standard	NM_005963		Approved	MYHSA1, MYHa, MyHC-2X/D, MGC133384	uc002gmo.3	P12882	OTTHUMG00000130362	ENST00000226207.5:c.174delG	17.37:g.10419786delC	ENSP00000226207:p.Gly58fs					CTC-297N7.7_ENST00000399342.2_RNA|CTC-297N7.7_ENST00000587182.1_RNA|CTC-297N7.7_ENST00000581304.1_RNA	p.G58fs	NM_005963.3	NP_005954.3	P12882	MYH1_HUMAN			3	268	-			58			Myosin head-like.		Q14CA4|Q9Y622	Frame_Shift_Del	DEL	ENST00000226207.5	37	c.174delG	CCDS11155.1																																																																																				0.473	MYH1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000252725.1	NM_005963		79	162						79	162	---	---	---	---
FLCN	201163	broad.mit.edu	37	17	17120445	17120446	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:17120445_17120446insC	ENST00000285071.4	-	10	1567_1568	c.1113_1114insG	c.(1111-1116)gggaacfs	p.N372fs	RP11-45M22.4_ENST00000427497.3_Frame_Shift_Ins_p.E79fs	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN	folliculin	372					cell-cell junction assembly (GO:0007043)|hemopoiesis (GO:0030097)|in utero embryonic development (GO:0001701)|negative regulation of ATP biosynthetic process (GO:2001170)|negative regulation of cell growth (GO:0030308)|negative regulation of cell migration (GO:0030336)|negative regulation of cell proliferation involved in kidney development (GO:1901723)|negative regulation of energy homeostasis (GO:2000506)|negative regulation of ERK1 and ERK2 cascade (GO:0070373)|negative regulation of gene expression (GO:0010629)|negative regulation of mitochondrion organization (GO:0010823)|negative regulation of protein kinase B signaling (GO:0051898)|negative regulation of protein localization to nucleus (GO:1900181)|negative regulation of Rho protein signal transduction (GO:0035024)|negative regulation of TOR signaling (GO:0032007)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of apoptotic process (GO:0043065)|positive regulation of cell adhesion (GO:0045785)|positive regulation of gene expression (GO:0010628)|positive regulation of protein phosphorylation (GO:0001934)|positive regulation of TOR signaling (GO:0032008)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of transforming growth factor beta receptor signaling pathway (GO:0030511)|regulation of cytokinesis (GO:0032465)|regulation of histone acetylation (GO:0035065)|regulation of pro-B cell differentiation (GO:2000973)|regulation of protein phosphorylation (GO:0001932)|regulation of TOR signaling (GO:0032006)|TOR signaling (GO:0031929)	cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	protein complex binding (GO:0032403)			NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						ATCACCTGGTTCCCCATGAGAA	0.525									Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome																													ENST00000285071.4																			0				NS(1)|breast(1)|endometrium(4)|haematopoietic_and_lymphoid_tissue(1)|large_intestine(1)|lung(11)|stomach(1)|thyroid(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	23						c.(1111-1116)ggaccafs		folliculin																																				SO:0001589	frameshift_variant	201163	Familial Non-VHL Clear Cell Renal Cancer;Birt-Hogg-Dub syndrome	Familial Cancer Database	Familial Clear Cell Renal Cell Cancer, FcRCC, Familial Non-VHL Non-Papillary Clear Cell Renal Cancer;BHD, Fibrofolliculomas with Trichodiscomas and Acrochordons, incl.: Hornstein-Knickenberg syndrome, Perifollicular Fibromatosis	regulation of protein phosphorylation	cytoplasm|nucleus|plasma membrane	protein binding	g.chr17:17120445_17120446insC	AF517523	CCDS32579.1, CCDS32580.1	17p11.2	2014-09-17			ENSG00000154803	ENSG00000154803			27310	protein-coding gene	gene with protein product		607273					Standard	NM_144997		Approved	BHD, MGC17998, MGC23445	uc002gra.4	Q8NFG4	OTTHUMG00000059275	ENST00000285071.4:c.1114dupG	17.37:g.17120449_17120449dupC	ENSP00000285071:p.Asn372fs					RP11-45M22.4_ENST00000427497.3_Frame_Shift_Ins_p.T79fs	p.P372fs	NM_144997.5	NP_659434.2	Q8NFG4	FLCN_HUMAN			10	1567_1568	-			372					A6NJJ8|Q6ZRX1|Q96BD2|Q96BE4	Frame_Shift_Ins	INS	ENST00000285071.4	37	c.1113_1114insG	CCDS32579.1																																																																																				0.525	FLCN-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000131577.1	NM_144606		14	55						14	55	---	---	---	---
RP11-160E2.17	0	broad.mit.edu	37	17	18988562	18988562	+	lincRNA	DEL	T	T	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:18988562delT	ENST00000442355.2	+	0	272																											CTGATGTGTGTTTTTTTTTTT	0.279																																						ENST00000442355.2																			0																																																			0							g.chr17:18988562delT																													17.37:g.18988562delT														0	272	+									RNA	DEL	ENST00000442355.2	37																																																																																						0.279	RP11-160E2.17-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000441117.1			3	3						3	3	---	---	---	---
KSR1	8844	broad.mit.edu	37	17	25910016	25910016	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:25910016delC	ENST00000319524.6	+	4	865	c.865delC	c.(865-867)cccfs	p.P292fs	KSR1_ENST00000509603.2_Frame_Shift_Del_p.P292fs|KSR1_ENST00000398988.3_Frame_Shift_Del_p.P155fs|KSR1_ENST00000268763.6_Frame_Shift_Del_p.P155fs			Q8IVT5	KSR1_HUMAN	kinase suppressor of ras 1	292	Poly-Pro.				Ras protein signal transduction (GO:0007265)	endoplasmic reticulum (GO:0005783)|membrane (GO:0016020)	ATP binding (GO:0005524)|metal ion binding (GO:0046872)|protein kinase activity (GO:0004672)|protein serine/threonine kinase activity (GO:0004674)	p.P292fs*22(2)		NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28	Lung NSC(42;0.00836)		BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)		ACCACGGACGCCCCCCCCACC	0.682																																					Esophageal Squamous(88;1120 1336 6324 10502 16832)	ENST00000398988.3																			2	Insertion - Frameshift(2)	p.P292fs*22(2)	large_intestine(2)	NS(1)|breast(1)|central_nervous_system(1)|endometrium(5)|large_intestine(5)|lung(12)|prostate(2)|urinary_tract(1)	28						c.(454-456)ccfs		kinase suppressor of ras 1				51,61,3556		1,0,49,12,37,1735	10.0	15.0	13.0			-7.0	0.7	17		13	70,118,7616		0,0,70,18,82,3732	no	codingComplex	KSR1	NM_014238.1		1,0,119,30,119,5467	A1A1,A1A2,A1R,A2A2,A2R,RR		2.409,3.0534,2.6151			25910016	121,179,11172	1977	4124	6101	SO:0001589	frameshift_variant	8844				Ras protein signal transduction	cytoplasm|membrane	ATP binding|metal ion binding|protein binding|protein serine/threonine kinase activity	g.chr17:25910016delC	U43586	CCDS58532.1	17q11.2	2012-05-23	2005-12-14	2005-12-14	ENSG00000141068	ENSG00000141068			6465	protein-coding gene	gene with protein product		601132	"""kinase suppressor of ras"""	KSR		8521512	Standard	XM_006722151		Approved	RSU2	uc031qzj.1	Q8IVT5	OTTHUMG00000132051	ENST00000319524.6:c.865delC	17.37:g.25910016delC	ENSP00000323178:p.Pro292fs					KSR1_ENST00000319524.6_Frame_Shift_Del_p.P292fs|KSR1_ENST00000509603.2_Frame_Shift_Del_p.P292fs|KSR1_ENST00000268763.6_Frame_Shift_Del_p.P155fs	p.P155fs	NM_014238.1	NP_055053.1	Q8IVT5	KSR1_HUMAN	BRCA - Breast invasive adenocarcinoma(3;0.00122)	UCEC - Uterine corpus endometrioid carcinoma (53;0.168)	5	899	+	Lung NSC(42;0.00836)		290					F8WEA9|H7BYU0|Q13476	Frame_Shift_Del	DEL	ENST00000319524.6	37	c.454delC																																																																																					0.682	KSR1-202	KNOWN	basic|appris_candidate_longest	protein_coding	protein_coding		NM_014238		11	20						11	20	---	---	---	---
ZNF207	7756	broad.mit.edu	37	17	30694866	30694866	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:30694866delC	ENST00000321233.6	+	9	1103	c.949delC	c.(949-951)cccfs	p.P318fs	ZNF207_ENST00000394673.2_Frame_Shift_Del_p.P303fs|ZNF207_ENST00000342555.6_Frame_Shift_Del_p.P337fs|ZNF207_ENST00000394670.4_Frame_Shift_Del_p.P334fs|ZNF207_ENST00000341711.6_Frame_Shift_Del_p.P235fs|ZNF207_ENST00000577908.1_Frame_Shift_Del_p.P334fs	NM_003457.3	NP_003448.1	O43670	ZN207_HUMAN	zinc finger protein 207	318					attachment of spindle microtubules to kinetochore (GO:0008608)|mitotic sister chromatid segregation (GO:0000070)|mitotic spindle assembly checkpoint (GO:0007094)|protein stabilization (GO:0050821)|regulation of chromosome segregation (GO:0051983)|regulation of transcription, DNA-templated (GO:0006355)	kinetochore (GO:0000776)|microtubule (GO:0005874)|nucleus (GO:0005634)	DNA binding (GO:0003677)|heparin binding (GO:0008201)|microtubule binding (GO:0008017)|poly(A) RNA binding (GO:0044822)|sequence-specific DNA binding transcription factor activity (GO:0003700)|zinc ion binding (GO:0008270)			breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10		Breast(31;0.116)|Ovarian(249;0.182)	BRCA - Breast invasive adenocarcinoma(9;0.239)			AACTACAGAACCCCCAAAGCC	0.423																																						ENST00000394670.4																			0				breast(1)|endometrium(2)|kidney(2)|lung(3)|urinary_tract(2)	10						c.(997-999)ccfs		zinc finger protein 207							142.0	129.0	134.0					17																	30694866		2203	4300	6503	SO:0001589	frameshift_variant	7756					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|zinc ion binding	g.chr17:30694866delC	AF046001	CCDS11271.1, CCDS32614.1, CCDS42294.1	17q11.2	2008-07-10			ENSG00000010244	ENSG00000010244		"""Zinc fingers, C2H2-type"""	12998	protein-coding gene	gene with protein product		603428				9799612	Standard	NM_001098507		Approved		uc002hhj.4	O43670	OTTHUMG00000132810	ENST00000321233.6:c.949delC	17.37:g.30694866delC	ENSP00000322777:p.Pro318fs					ZNF207_ENST00000341711.6_Frame_Shift_Del_p.P235fs|ZNF207_ENST00000577908.1_Frame_Shift_Del_p.P334fs|ZNF207_ENST00000394673.2_Frame_Shift_Del_p.P303fs|ZNF207_ENST00000342555.6_Frame_Shift_Del_p.P337fs|ZNF207_ENST00000321233.6_Frame_Shift_Del_p.P318fs	p.P334fs	NM_001098507.1	NP_001091977.1	O43670	ZN207_HUMAN	BRCA - Breast invasive adenocarcinoma(9;0.239)		10	1166	+		Breast(31;0.116)|Ovarian(249;0.182)	318					A8K6Y6|E1P660|E1P661|E1P662|Q53XS9|Q96HW5|Q9BUQ7	Frame_Shift_Del	DEL	ENST00000321233.6	37	c.997delC	CCDS11271.1																																																																																				0.423	ZNF207-003	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000256251.2			10	106						10	106	---	---	---	---
GAS2L2	246176	broad.mit.edu	37	17	34074112	34074112	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:34074112delG	ENST00000254466.6	-	5	1035	c.1008delC	c.(1006-1008)cccfs	p.P336fs	GAS2L2_ENST00000587565.1_Frame_Shift_Del_p.P320fs	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN	growth arrest-specific 2 like 2	336					cell cycle arrest (GO:0007050)|microtubule bundle formation (GO:0001578)|negative regulation of microtubule depolymerization (GO:0007026)	cytoplasm (GO:0005737)|cytoskeleton (GO:0005856)	actin filament binding (GO:0051015)|cytoskeletal adaptor activity (GO:0008093)|microtubule binding (GO:0008017)			central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35		Ovarian(249;0.17)		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		AGGATGGGGTGGGGGGCCTCA	0.632																																						ENST00000254466.6																			0				central_nervous_system(1)|endometrium(1)|large_intestine(7)|lung(14)|ovary(2)|pancreas(1)|prostate(2)|skin(3)|stomach(1)|upper_aerodigestive_tract(2)|urinary_tract(1)	35						c.(1006-1008)ccfs		growth arrest-specific 2 like 2							31.0	37.0	35.0					17																	34074112		2203	4298	6501	SO:0001589	frameshift_variant	246176				cell cycle arrest	cytoplasm|cytoskeleton		g.chr17:34074112delG	AF508784	CCDS11298.1	17q21	2014-05-06			ENSG00000132139	ENSG00000270765			24846	protein-coding gene	gene with protein product		611398				12584248	Standard	NM_139285		Approved	GAR17	uc002hjv.2	Q8NHY3	OTTHUMG00000188386	ENST00000254466.6:c.1008delC	17.37:g.34074112delG	ENSP00000254466:p.Pro336fs					GAS2L2_ENST00000587565.1_Frame_Shift_Del_p.P320fs	p.P336fs	NM_139285.3	NP_644814.1	Q8NHY3	GA2L2_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	5	1035	-		Ovarian(249;0.17)	336					Q8NHY4	Frame_Shift_Del	DEL	ENST00000254466.6	37	c.1008delC	CCDS11298.1																																																																																				0.632	GAS2L2-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000256497.1	NM_139285		25	64						25	64	---	---	---	---
PIGW	284098	broad.mit.edu	37	17	34894126	34894127	+	Frame_Shift_Ins	INS	-	-	A	rs546733529		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:34894126_34894127insA	ENST00000592983.1	+	2	1756_1757	c.1176_1177insA	c.(1177-1179)atafs	p.I393fs	PIGW_ENST00000328396.2_Frame_Shift_Ins_p.I393fs|MYO19_ENST00000590081.1_Intron			Q7Z7B1	PIGW_HUMAN	phosphatidylinositol glycan anchor biosynthesis, class W	393					C-terminal protein lipidation (GO:0006501)|cellular protein metabolic process (GO:0044267)|post-translational protein modification (GO:0043687)|preassembly of GPI anchor in ER membrane (GO:0016254)	endoplasmic reticulum membrane (GO:0005789)|integral component of membrane (GO:0016021)	transferase activity, transferring acyl groups (GO:0016746)			breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13		Breast(25;0.00957)|Ovarian(249;0.17)	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)		TACTGGGTGATATAATTTTGAG	0.337																																						ENST00000592983.1																			0				breast(2)|endometrium(3)|kidney(1)|large_intestine(1)|lung(3)|stomach(1)|upper_aerodigestive_tract(1)|urinary_tract(1)	13						c.(1174-1179)gataatfs		phosphatidylinositol glycan anchor biosynthesis, class W																																				SO:0001589	frameshift_variant	284098				C-terminal protein lipidation|preassembly of GPI anchor in ER membrane	endoplasmic reticulum membrane|integral to membrane	O-acyltransferase activity	g.chr17:34894126_34894127insA	AB097818	CCDS11313.1	17q21.1	2014-05-06	2006-06-28		ENSG00000184886	ENSG00000277161		"""Phosphatidylinositol glycan anchor biosynthesis"""	23213	protein-coding gene	gene with protein product		610275	"""phosphatidylinositol glycan, class W"""			14517336, 12714589	Standard	XM_005257238		Approved	Gwt1, FLJ37433	uc002hmz.1	Q7Z7B1	OTTHUMG00000188438	ENST00000592983.1:c.1177dupA	17.37:g.34894127_34894127dupA	ENSP00000468778:p.Ile393fs					MYO19_ENST00000590081.1_Intron|PIGW_ENST00000328396.2_Frame_Shift_Ins_p.DN392fs	p.DN392fs			Q7Z7B1	PIGW_HUMAN	Kidney(155;0.104)	UCEC - Uterine corpus endometrioid carcinoma (308;0.0182)	2	1756_1757	+		Breast(25;0.00957)|Ovarian(249;0.17)	392					Q8N9G3	Frame_Shift_Ins	INS	ENST00000592983.1	37	c.1176_1177insA	CCDS11313.1																																																																																				0.337	PIGW-003	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000451318.1	NM_178517		20	52						20	52	---	---	---	---
LOC146880	146880	broad.mit.edu	37	17	62754594	62754599	+	RNA	DEL	CAAATG	CAAATG	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:62754594_62754599delCAAATG	ENST00000400873.3	-	0	1703					NR_026899.1																						CATCCCTTTCCAAATGTCTTCCCATT	0.374																																						ENST00000400873.3																			0																																																			146880							g.chr17:62754594_62754599delCAAATG																													17.37:g.62754594_62754599delCAAATG								NR_026899.1						0	1703	-									RNA	DEL	ENST00000400873.3	37																																																																																						0.374	hsa-mir-6080.1-201	KNOWN	basic	processed_transcript	processed_transcript				11	42						11	42	---	---	---	---
RNF213	57674	broad.mit.edu	37	17	78263552	78263553	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr17:78263552_78263553insG	ENST00000582970.1	+	6	1171_1172	c.1028_1029insG	c.(1027-1032)gaggggfs	p.EG343fs	RNF213_ENST00000508628.2_Frame_Shift_Ins_p.EG392fs|RNF213_ENST00000319921.4_Frame_Shift_Ins_p.EG343fs|RNF213_ENST00000456466.1_Frame_Shift_Ins_p.EG343fs	NM_001256071.1	NP_001243000.1	Q63HN8	RN213_HUMAN	ring finger protein 213	343					ATP catabolic process (GO:0006200)|protein autoubiquitination (GO:0051865)|protein ubiquitination (GO:0016567)	cytoplasm (GO:0005737)|membrane (GO:0016020)	ATPase activity (GO:0016887)|ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130	all_neural(118;0.0538)		BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)			AAGAAGCCAGAGGGGAAGAACA	0.515																																						ENST00000582970.1																			0				NS(1)|breast(7)|central_nervous_system(1)|cervix(3)|endometrium(12)|haematopoietic_and_lymphoid_tissue(2)|kidney(18)|large_intestine(23)|lung(36)|ovary(11)|pancreas(2)|prostate(4)|skin(3)|stomach(3)|upper_aerodigestive_tract(1)|urinary_tract(3)	130						c.(1027-1029)gggfs		ring finger protein 213																																				SO:0001589	frameshift_variant	57674							g.chr17:78263552_78263553insG	AK074030	CCDS58606.1	17q25.3	2013-01-09	2007-02-08	2007-02-08		ENSG00000173821		"""RING-type (C3HC4) zinc fingers"""	14539	protein-coding gene	gene with protein product		613768	"""chromosome 17 open reading frame 27"", ""KIAA1618"", ""moyamoya disease 2"", ""Moyamoya disease 2"""	C17orf27, KIAA1618, MYMY2		10997877, 21048783, 21799892	Standard	NM_020954		Approved	KIAA1554, NET57	uc021uen.2	Q63HN8		ENST00000582970.1:c.1032dupG	17.37:g.78263556_78263556dupG	ENSP00000464087:p.Glu343fs					RNF213_ENST00000319921.4_Frame_Shift_Ins_p.G343fs|RNF213_ENST00000456466.1_Frame_Shift_Ins_p.G343fs|RNF213_ENST00000508628.2_Frame_Shift_Ins_p.G392fs	p.G343fs	NM_001256071.1	NP_001243000.1	Q9HCF4	ALO17_HUMAN	BRCA - Breast invasive adenocarcinoma(99;0.0252)|OV - Ovarian serous cystadenocarcinoma(97;0.057)		6	1171_1172	+	all_neural(118;0.0538)		343					C9JCP4|D6RI12|F8WKS1|Q658P6|Q69YK7|Q6MZR1|Q8IWF4|Q8IZX1|Q8IZX2|Q8N406|Q8TEU0|Q9H6C9|Q9H6H9|Q9H6P3|Q9H8A9|Q9HCF4|Q9HCL8	Frame_Shift_Ins	INS	ENST00000582970.1	37	c.1028_1029insG	CCDS58606.1																																																																																				0.515	RNF213-020	KNOWN	basic|appris_candidate|CCDS	protein_coding	protein_coding	OTTHUMT00000443298.1	NM_020914		13	40						13	40	---	---	---	---
CHAF1A	10036	broad.mit.edu	37	19	4423354	4423354	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:4423354delA	ENST00000301280.5	+	6	1371	c.1270delA	c.(1270-1272)aaafs	p.K425fs		NM_005483.2	NP_005474	Q13111	CAF1A_HUMAN	chromatin assembly factor 1, subunit A (p150)	425	Arg/Glu/Lys-rich.				cell cycle (GO:0007049)|chromatin assembly (GO:0031497)|DNA repair (GO:0006281)|DNA replication (GO:0006260)|DNA replication-dependent nucleosome assembly (GO:0006335)|protein complex assembly (GO:0006461)|regulation of transcription, DNA-templated (GO:0006355)|transcription, DNA-templated (GO:0006351)	CAF-1 complex (GO:0033186)|nuclear chromatin (GO:0000790)|protein complex (GO:0043234)	chromatin binding (GO:0003682)|chromo shadow domain binding (GO:0070087)|identical protein binding (GO:0042802)|unfolded protein binding (GO:0051082)			breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27		Hepatocellular(1079;0.137)		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)		GGAAAAAAGGAAAAAGGAAGA	0.483								Chromatin Structure																														ENST00000301280.5																			0				breast(1)|endometrium(4)|kidney(3)|large_intestine(5)|lung(6)|ovary(1)|pancreas(1)|prostate(2)|skin(3)|urinary_tract(1)	27						c.(1270-1272)aafs	Chromatin Structure	chromatin assembly factor 1, subunit A (p150)							99.0	97.0	98.0					19																	4423354		2203	4300	6503	SO:0001589	frameshift_variant	10036				cell cycle|DNA repair|DNA replication|DNA replication-dependent nucleosome assembly|protein complex assembly|regulation of transcription, DNA-dependent|transcription, DNA-dependent	CAF-1 complex|WINAC complex	chromatin binding|chromo shadow domain binding|unfolded protein binding	g.chr19:4423354delA	U20979	CCDS32875.1	19p13.3	2008-07-16				ENSG00000167670			1910	protein-coding gene	gene with protein product	"""chromatin assembly factor I (150 kDa)"""	601246				7600578	Standard	NM_005483		Approved	CAF1P150, CAF1B, CAF-1, CAF1, P150, MGC71229	uc002mal.3	Q13111		ENST00000301280.5:c.1270delA	19.37:g.4423354delA	ENSP00000301280:p.Lys425fs						p.K425fs	NM_005483.2	NP_005474.2	Q13111	CAF1A_HUMAN		UCEC - Uterine corpus endometrioid carcinoma (162;6.64e-05)|BRCA - Breast invasive adenocarcinoma(158;0.0148)|STAD - Stomach adenocarcinoma(1328;0.18)	6	1371	+		Hepatocellular(1079;0.137)	425			Arg/Glu/Lys-rich.		Q6NXG5|Q7Z7K3|Q9UJY8	Frame_Shift_Del	DEL	ENST00000301280.5	37	c.1270delA	CCDS32875.1																																																																																				0.483	CHAF1A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000458310.2	NM_005483		35	66						35	66	---	---	---	---
TSPAN16	26526	broad.mit.edu	37	19	11422814	11422814	+	Splice_Site	DEL	G	G	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:11422814delG	ENST00000316737.1	+	6	753		c.e6-1		TSPAN16_ENST00000590327.1_Splice_Site|TSPAN16_ENST00000592955.1_Splice_Site|CTC-510F12.4_ENST00000586356.1_RNA	NM_012466.2	NP_036598.1	Q9UKR8	TSN16_HUMAN	tetraspanin 16							integral component of membrane (GO:0016021)				breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	12						TGTTTCCTCAGGGCTGTTTCC	0.507																																						ENST00000316737.1																			0				breast(1)|endometrium(3)|large_intestine(1)|lung(2)|ovary(1)|prostate(1)|skin(2)|stomach(1)	12						c.e6-1		tetraspanin 16							56.0	56.0	56.0					19																	11422814		2203	4300	6503	SO:0001630	splice_region_variant	26526					integral to membrane		g.chr19:11422814delG	BC029908	CCDS12256.1, CCDS62549.1, CCDS62550.1	19p13.2	2013-02-14	2005-03-21	2005-03-21	ENSG00000130167	ENSG00000130167		"""Tetraspanins"""	30725	protein-coding gene	gene with protein product			"""transmembrane 4 superfamily member 16"""	TM4SF16		10500248	Standard	NM_012466		Approved	TM4-B, TM-8	uc002mqv.1	Q9UKR8	OTTHUMG00000180833	ENST00000316737.1:c.604-1G>-	19.37:g.11422814delG						TSPAN16_ENST00000590327.1_Splice_Site|CTC-510F12.4_ENST00000586356.1_RNA|TSPAN16_ENST00000592955.1_Splice_Site		NM_012466.2	NP_036598.1	Q9UKR8	TSN16_HUMAN			6	753	+								K7EN22|K7EPD8|Q8N6J7	Splice_Site	DEL	ENST00000316737.1	37		CCDS12256.1																																																																																				0.507	TSPAN16-001	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000453204.1	NM_012466	Intron	9	28						9	28	---	---	---	---
PKN1	5585	broad.mit.edu	37	19	14562741	14562741	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:14562741delC	ENST00000242783.6	+	7	1236	c.1071delC	c.(1069-1071)cgcfs	p.R357fs	PKN1_ENST00000342216.4_Frame_Shift_Del_p.R363fs	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN	protein kinase N1	357	C2.				activation of JUN kinase activity (GO:0007257)|epithelial cell migration (GO:0010631)|histone H3-T11 phosphorylation (GO:0035407)|hyperosmotic response (GO:0006972)|protein phosphorylation (GO:0006468)|regulation of cell motility (GO:2000145)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|signal transduction (GO:0007165)|transcription, DNA-templated (GO:0006351)	cleavage furrow (GO:0032154)|cytoplasm (GO:0005737)|cytoplasmic membrane-bounded vesicle (GO:0016023)|endosome (GO:0005768)|midbody (GO:0030496)|nucleus (GO:0005634)|plasma membrane (GO:0005886)	androgen receptor binding (GO:0050681)|ATP binding (GO:0005524)|chromatin binding (GO:0003682)|GTP-Rho binding (GO:0017049)|histone binding (GO:0042393)|histone deacetylase binding (GO:0042826)|histone kinase activity (H3-T11 specific) (GO:0035402)|ligand-dependent nuclear receptor transcription coactivator activity (GO:0030374)|protein kinase activity (GO:0004672)|protein kinase C activity (GO:0004697)|protein kinase C binding (GO:0005080)|protein serine/threonine kinase activity (GO:0004674)|Rac GTPase binding (GO:0048365)	p.F360fs*2(1)		breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						CAGACAGCCGCCCCCCCTTCC	0.667																																					NSCLC(185;2539 2965 10733 52867)	ENST00000242783.6																			1	Deletion - Frameshift(1)	p.F360fs*2(1)	ovary(1)	breast(3)|central_nervous_system(1)|cervix(1)|kidney(2)|large_intestine(6)|lung(11)|ovary(4)|skin(2)|upper_aerodigestive_tract(1)	31						c.(1069-1071)cgfs		protein kinase N1							18.0	26.0	23.0					19																	14562741		1942	4133	6075	SO:0001589	frameshift_variant	5585				activation of JUN kinase activity|regulation of transcription from RNA polymerase II promoter by nuclear hormone receptor|transcription, DNA-dependent	endosome|nucleus|plasma membrane	androgen receptor binding|ATP binding|chromatin binding|GTP-Rho binding|histone binding|histone deacetylase binding|histone kinase activity (H3-T11 specific)|ligand-dependent nuclear receptor transcription coactivator activity|protein kinase C activity|protein kinase C binding|Rac GTPase binding	g.chr19:14562741delC	S75546	CCDS42513.1, CCDS42514.1	19p13.12	2008-05-14	2004-07-01	2004-07-01	ENSG00000123143	ENSG00000123143			9405	protein-coding gene	gene with protein product		601032	"""protein kinase C-like 1"""	PRKCL1		9570957	Standard	NM_002741		Approved	DBK, PRK1, PKN, MGC46204, PAK1	uc002myq.3	Q16512	OTTHUMG00000039611	ENST00000242783.6:c.1071delC	19.37:g.14562741delC	ENSP00000242783:p.Arg357fs					PKN1_ENST00000342216.4_Frame_Shift_Del_p.R363fs	p.R357fs	NM_002741.3	NP_002732.3	Q16512	PKN1_HUMAN			7	1236	+			357			C2.		A8K7W5|B2R9R4|B3KVN3|Q15143|Q504U4|Q8IUV5|Q9UD44	Frame_Shift_Del	DEL	ENST00000242783.6	37	c.1071delC	CCDS42513.1																																																																																				0.667	PKN1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000095510.1	NM_002741, NM_213560		12	27						12	27	---	---	---	---
NOTCH3	4854	broad.mit.edu	37	19	15302405	15302405	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:15302405delC	ENST00000263388.2	-	6	941	c.866delG	c.(865-867)ggtfs	p.G289fs		NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	notch 3	289	EGF-like 7. {ECO:0000255|PROSITE- ProRule:PRU00076}.				forebrain development (GO:0030900)|gene expression (GO:0010467)|glomerular capillary formation (GO:0072104)|negative regulation of neuron differentiation (GO:0045665)|neuron fate commitment (GO:0048663)|Notch receptor processing (GO:0007220)|Notch signaling pathway (GO:0007219)|positive regulation of smooth muscle cell proliferation (GO:0048661)|regulation of transcription, DNA-templated (GO:0006355)|transcription initiation from RNA polymerase II promoter (GO:0006367)	actin cytoskeleton (GO:0015629)|cytoplasm (GO:0005737)|cytosol (GO:0005829)|endoplasmic reticulum membrane (GO:0005789)|extracellular region (GO:0005576)|Golgi membrane (GO:0000139)|integral component of membrane (GO:0016021)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|receptor complex (GO:0043235)	calcium ion binding (GO:0005509)			breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93			OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)			GAAGCAGGTACCCCCATTGTG	0.612																																						ENST00000263388.2																			0				breast(4)|central_nervous_system(3)|endometrium(10)|kidney(3)|large_intestine(16)|liver(1)|lung(31)|ovary(8)|prostate(3)|skin(7)|stomach(1)|upper_aerodigestive_tract(5)|urinary_tract(1)	93						c.(865-867)gtfs		notch 3							71.0	53.0	59.0					19																	15302405		2202	4300	6502	SO:0001589	frameshift_variant	4854				Notch receptor processing|Notch signaling pathway|regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytosol|endoplasmic reticulum lumen|extracellular region|Golgi lumen|integral to membrane|nucleoplasm|plasma membrane	calcium ion binding|protein binding|receptor activity	g.chr19:15302405delC	U97669	CCDS12326.1	19p13.2-p13.1	2013-01-10	2010-06-24			ENSG00000074181		"""Ankyrin repeat domain containing"""	7883	protein-coding gene	gene with protein product		600276	"""Notch (Drosophila) homolog 3"", ""Notch homolog 3 (Drosophila)"""	CADASIL		7835890	Standard	NM_000435		Approved	CASIL	uc002nan.3	Q9UM47		ENST00000263388.2:c.866delG	19.37:g.15302405delC	ENSP00000263388:p.Gly289fs						p.G289fs	NM_000435.2	NP_000426.2	Q9UM47	NOTC3_HUMAN	OV - Ovarian serous cystadenocarcinoma(3;2.6e-20)|Epithelial(3;1.34e-16)|all cancers(3;5.13e-15)		6	941	-			289			EGF-like 7.		Q9UEB3|Q9UPL3|Q9Y6L8	Frame_Shift_Del	DEL	ENST00000263388.2	37	c.866delG	CCDS12326.1																																																																																				0.612	NOTCH3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465714.1	NM_000435		15	34						15	34	---	---	---	---
LPAR2	9170	broad.mit.edu	37	19	19737403	19737403	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:19737403delG	ENST00000542587.1	-	5	1593	c.691delC	c.(691-693)cgcfs	p.R231fs	LPAR2_ENST00000407877.3_Frame_Shift_Del_p.R231fs|LPAR2_ENST00000589311.1_5'Flank|LPAR2_ENST00000586703.1_Frame_Shift_Del_p.R231fs			Q9HBW0	LPAR2_HUMAN	lysophosphatidic acid receptor 2	231					activation of MAPK activity (GO:0000187)|activation of phospholipase C activity (GO:0007202)|G-protein coupled receptor signaling pathway (GO:0007186)|positive regulation of cytosolic calcium ion concentration (GO:0007204)|positive regulation of Rho protein signal transduction (GO:0035025)	cell surface (GO:0009986)|integral component of plasma membrane (GO:0005887)|plasma membrane (GO:0005886)	G-protein coupled receptor activity (GO:0004930)|lipid binding (GO:0008289)|lysophosphatidic acid receptor activity (GO:0070915)			breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	10						TCTCGGTAGCGGGGGTGGCAG	0.617																																						ENST00000542587.1																			0				breast(1)|endometrium(2)|large_intestine(2)|lung(2)|ovary(1)|prostate(1)|urinary_tract(1)	10						c.(691-693)gcfs		lysophosphatidic acid receptor 2							67.0	75.0	72.0					19																	19737403		2202	4296	6498	SO:0001589	frameshift_variant	9170				activation of phospholipase C activity|elevation of cytosolic calcium ion concentration	cell surface|integral to plasma membrane	LIM domain binding|lipid binding	g.chr19:19737403delG	AF011466	CCDS12407.1	19p12	2012-08-08	2008-04-11	2008-04-11		ENSG00000064547		"""GPCR / Class A : Lysophospholipid receptors : Lysophosphatidic acid"""	3168	protein-coding gene	gene with protein product		605110	"""endothelial differentiation, lysophosphatidic acid G-protein-coupled receptor, 4"""	EDG4		9525886, 9804623	Standard	NM_004720		Approved	EDG-4, LPA2	uc002nnb.4	Q9HBW0		ENST00000542587.1:c.691delC	19.37:g.19737403delG	ENSP00000443256:p.Arg231fs					LPAR2_ENST00000407877.3_Frame_Shift_Del_p.R231fs|LPAR2_ENST00000586703.1_Frame_Shift_Del_p.R231fs	p.R231fs			Q9HBW0	LPAR2_HUMAN			5	1593	-			231					O00543|O43431	Frame_Shift_Del	DEL	ENST00000542587.1	37	c.691delC	CCDS12407.1																																																																																				0.617	LPAR2-003	KNOWN	alternative_5_UTR|non_canonical_TEC|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000460544.1	NM_004720		51	134						51	134	---	---	---	---
ZNF85	7639	broad.mit.edu	37	19	21132352	21132353	+	Frame_Shift_Ins	INS	-	-	A			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:21132352_21132353insA	ENST00000328178.8	+	4	1145_1146	c.1032_1033insA	c.(1033-1035)aaafs	p.K345fs	ZNF85_ENST00000345030.6_Frame_Shift_Ins_p.K312fs|ZNF85_ENST00000601023.1_Frame_Shift_Ins_p.K286fs	NM_001256173.1|NM_003429.4	NP_001243102.1|NP_003420.2	Q03923	ZNF85_HUMAN	zinc finger protein 85	345					transcription, DNA-templated (GO:0006351)	nucleus (GO:0005634)	DNA binding (GO:0003677)|metal ion binding (GO:0046872)|sequence-specific DNA binding transcription factor activity (GO:0003700)|transcription corepressor activity (GO:0003714)			breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						CCTACAAATGTAAAAAATGTGG	0.376																																						ENST00000601023.1																			0				breast(1)|central_nervous_system(1)|large_intestine(5)|lung(10)|ovary(1)|prostate(2)	20						c.(853-858)tgaaaafs		zinc finger protein 85																																				SO:0001589	frameshift_variant	7639					nucleus	DNA binding|sequence-specific DNA binding transcription factor activity|transcription corepressor activity|zinc ion binding	g.chr19:21132352_21132353insA	U35376	CCDS32977.1, CCDS58657.1	19p12	2013-01-08	2006-05-12			ENSG00000105750		"""Zinc fingers, C2H2-type"", ""-"""	13160	protein-coding gene	gene with protein product		603899	"""zinc finger protein 85 (HPF4, HTF1)"""			2505992	Standard	NM_003429		Approved	HPF4, HTF1	uc031rjx.1	Q03923		ENST00000328178.8:c.1038dupA	19.37:g.21132358_21132358dupA	ENSP00000329793:p.Lys345fs					ZNF85_ENST00000328178.8_Frame_Shift_Ins_p.*K344fs|ZNF85_ENST00000345030.6_Frame_Shift_Ins_p.*K311fs	p.*K285fs			Q03923	ZNF85_HUMAN			2	1501_1502	+			344					B9ZVP4|Q6NVI0	Frame_Shift_Ins	INS	ENST00000328178.8	37	c.855_856insA	CCDS32977.1																																																																																				0.376	ZNF85-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000463430.1	NM_003429		16	45						16	45	---	---	---	---
SUPT5H	6829	broad.mit.edu	37	19	39962359	39962359	+	Frame_Shift_Del	DEL	G	G	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:39962359delG	ENST00000599117.1	+	21	2306	c.1939delG	c.(1939-1941)gggfs	p.G648fs	SUPT5H_ENST00000402194.2_Frame_Shift_Del_p.G644fs|SUPT5H_ENST00000598725.1_Frame_Shift_Del_p.G648fs|SUPT5H_ENST00000359191.6_Frame_Shift_Del_p.G644fs|SUPT5H_ENST00000432763.2_Frame_Shift_Del_p.G648fs			O00267	SPT5H_HUMAN	suppressor of Ty 5 homolog (S. cerevisiae)	648					7-methylguanosine mRNA capping (GO:0006370)|cell cycle (GO:0007049)|chromatin remodeling (GO:0006338)|DNA-templated transcription, elongation (GO:0006354)|gene expression (GO:0010467)|negative regulation of DNA-templated transcription, elongation (GO:0032785)|negative regulation of transcription from RNA polymerase II promoter (GO:0000122)|positive regulation of DNA-templated transcription, elongation (GO:0032786)|positive regulation of macroautophagy (GO:0016239)|positive regulation of transcription from RNA polymerase II promoter (GO:0045944)|positive regulation of viral transcription (GO:0050434)|response to organic substance (GO:0010033)|single stranded viral RNA replication via double stranded DNA intermediate (GO:0039692)|transcription elongation from RNA polymerase II promoter (GO:0006368)|transcription from RNA polymerase II promoter (GO:0006366)|viral process (GO:0016032)	DSIF complex (GO:0032044)|nucleoplasm (GO:0005654)|nucleus (GO:0005634)	chromatin binding (GO:0003682)|enzyme binding (GO:0019899)|poly(A) RNA binding (GO:0044822)|protein heterodimerization activity (GO:0046982)			breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)			GGTGCTGGCTGGGGGCTCAAA	0.587																																						ENST00000599117.1																			0				breast(2)|cervix(1)|endometrium(6)|haematopoietic_and_lymphoid_tissue(2)|kidney(4)|large_intestine(13)|lung(12)|ovary(3)|pancreas(1)|prostate(5)|skin(1)|upper_aerodigestive_tract(1)	51						c.(1939-1941)ggfs		suppressor of Ty 5 homolog (S. cerevisiae)							36.0	39.0	38.0					19																	39962359		2203	4299	6502	SO:0001589	frameshift_variant	6829				cell cycle|chromatin remodeling|mRNA capping|negative regulation of transcription elongation, DNA-dependent|negative regulation of transcription from RNA polymerase II promoter|positive regulation of transcription elongation from RNA polymerase II promoter|positive regulation of transcription from RNA polymerase II promoter|positive regulation of viral transcription|response to organic substance|retroviral genome replication|transcription elongation from RNA polymerase II promoter	nucleoplasm	enzyme binding|protein heterodimerization activity	g.chr19:39962359delG	U56402	CCDS12536.1, CCDS46072.1	19q13	2008-07-22	2001-11-28			ENSG00000196235			11469	protein-coding gene	gene with protein product		602102	"""suppressor of Ty (S.cerevisiae) 5 homolog"""			8975720	Standard	NM_003169		Approved	SPT5H, SPT5, FLJ34157	uc002olp.4	O00267		ENST00000599117.1:c.1939delG	19.37:g.39962359delG	ENSP00000470252:p.Gly648fs					SUPT5H_ENST00000402194.2_Frame_Shift_Del_p.G644fs|SUPT5H_ENST00000432763.2_Frame_Shift_Del_p.G648fs|SUPT5H_ENST00000359191.6_Frame_Shift_Del_p.G644fs|SUPT5H_ENST00000598725.1_Frame_Shift_Del_p.G648fs	p.G648fs			O00267	SPT5H_HUMAN	Epithelial(26;3.9e-26)|all cancers(26;1.35e-23)|LUSC - Lung squamous cell carcinoma(53;0.000657)		21	2306	+	all_cancers(60;6.69e-07)|all_lung(34;2.66e-08)|Lung NSC(34;3e-08)|all_epithelial(25;1.57e-06)|Ovarian(47;0.159)		648					O43279|Q59G52|Q99639	Frame_Shift_Del	DEL	ENST00000599117.1	37	c.1939delG	CCDS12536.1																																																																																				0.587	SUPT5H-002	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000464918.1	NM_003169		31	45						31	45	---	---	---	---
MYPOP	339344	broad.mit.edu	37	19	46393941	46393942	+	Frame_Shift_Ins	INS	-	-	G			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:46393941_46393942insG	ENST00000322217.5	-	3	1225_1226	c.1139_1140insC	c.(1138-1140)ccafs	p.P380fs		NM_001012643.2	NP_001012661.1	Q86VE0	MYPOP_HUMAN	Myb-related transcription factor, partner of profilin	380	Pro-rich.					nucleus (GO:0005634)	chromatin binding (GO:0003682)|RNA polymerase II core promoter proximal region sequence-specific DNA binding (GO:0000978)|RNA polymerase II core promoter proximal region sequence-specific DNA binding transcription factor activity involved in negative regulation of transcription (GO:0001078)			large_intestine(2)|lung(1)|skin(1)	4						TCCGCTTGTGTGGGGGGGAGTC	0.644																																						ENST00000322217.5																			0				large_intestine(2)|lung(1)|skin(1)	4						c.(1138-1140)ccafs		Myb-related transcription factor, partner of profilin																																				SO:0001589	frameshift_variant	339344					nucleus	DNA binding	g.chr19:46393941_46393942insG	BC044311	CCDS33055.1	19q13.32	2014-06-13			ENSG00000176182	ENSG00000176182			20178	protein-coding gene	gene with protein product	"""p42 Myb-related transcription factor, partner of profilin"""					15615774	Standard	NM_001012643		Approved	P42pop	uc002pdt.3	Q86VE0	OTTHUMG00000182486	ENST00000322217.5:c.1140dupC	19.37:g.46393948_46393948dupG	ENSP00000325402:p.Pro380fs						p.P380fs	NM_001012643.2	NP_001012661.1	Q86VE0	MYPOP_HUMAN			3	1225_1226	-			380			Pro-rich.			Frame_Shift_Ins	INS	ENST00000322217.5	37	c.1139_1140insC	CCDS33055.1																																																																																				0.644	MYPOP-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000461684.1	NM_001012643		11	23						11	23	---	---	---	---
GLTSCR1	29998	broad.mit.edu	37	19	48197890	48197891	+	Frame_Shift_Ins	INS	-	-	C			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr19:48197890_48197891insC	ENST00000396720.3	+	8	2996_2997	c.2802_2803insC	c.(2803-2805)cccfs	p.P935fs	CTD-2571L23.8_ENST00000599924.1_lincRNA	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN	glioma tumor suppressor candidate region gene 1	935	Poly-Pro.									breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)		AGCCGGCAGCACCCCCCCCACC	0.673																																						ENST00000396720.3																			0				breast(2)|endometrium(1)|kidney(1)|large_intestine(4)|lung(3)|pancreas(3)|prostate(4)|skin(2)	20						c.(2800-2805)gcccccfs		glioma tumor suppressor candidate region gene 1																																				SO:0001589	frameshift_variant	29998						protein binding	g.chr19:48197890_48197891insC	AF182077	CCDS46134.1	19q13.3	2012-11-29			ENSG00000063169	ENSG00000063169			4332	protein-coding gene	gene with protein product		605690				10708517	Standard	NM_015711		Approved		uc002phh.4	Q9NZM4		ENST00000396720.3:c.2810dupC	19.37:g.48197898_48197898dupC	ENSP00000379946:p.Pro935fs					CTD-2571L23.8_ENST00000599924.1_lincRNA	p.AP934fs	NM_015711.3	NP_056526.3	Q9NZM4	GSCR1_HUMAN		all cancers(93;0.000358)|OV - Ovarian serous cystadenocarcinoma(262;0.000576)|Epithelial(262;0.0212)|GBM - Glioblastoma multiforme(486;0.0355)	8	2996_2997	+		all_cancers(25;1.8e-07)|all_lung(116;5.73e-06)|Lung NSC(112;9.69e-06)|all_epithelial(76;2.42e-05)|all_neural(266;0.0332)|Ovarian(192;0.086)	934					A8MW01	Frame_Shift_Ins	INS	ENST00000396720.3	37	c.2802_2803insC	CCDS46134.1																																																																																				0.673	GLTSCR1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000465846.1	NM_015711		28	23						28	23	---	---	---	---
EMILIN3	90187	broad.mit.edu	37	20	39990829	39990829	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr20:39990829delC	ENST00000332312.3	-	4	1572	c.1380delG	c.(1378-1380)gggfs	p.G460fs		NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN	elastin microfibril interfacer 3	460						cytoplasm (GO:0005737)|proteinaceous extracellular matrix (GO:0005578)		p.W461fs*31(1)		biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30		Myeloproliferative disorder(115;0.00425)				CCACTCCCCACCCCCCCATGT	0.637																																						ENST00000332312.3																			1	Insertion - Frameshift(1)	p.W461fs*31(1)	large_intestine(1)	biliary_tract(1)|endometrium(2)|kidney(1)|large_intestine(2)|liver(1)|lung(15)|ovary(1)|prostate(2)|skin(3)|urinary_tract(2)	30						c.(1378-1380)ggfs		elastin microfibril interfacer 3				23,4241		11,1,2120	75.0	79.0	78.0			5.0	0.9	20		77	17,8235		8,1,4117	no	frameshift	EMILIN3	NM_052846.1		19,2,6237	A1A1,A1R,RR		0.206,0.5394,0.3196			39990829	40,12476	2203	4300	6503	SO:0001589	frameshift_variant	90187					proteinaceous extracellular matrix		g.chr20:39990829delC	AL031667	CCDS13316.1	20q12	2005-11-06	2004-03-02	2004-03-02	ENSG00000183798	ENSG00000183798		"""EMI domain containing"""	16123	protein-coding gene	gene with protein product	"""chromosome 20 open reading frame 130"""	608929	"""elastin microfibril interfacer 5"""	C20orf130, EMILIN5		12221002	Standard	NM_052846		Approved	dJ620E11.4	uc002xjy.1	Q9NT22	OTTHUMG00000046304	ENST00000332312.3:c.1380delG	20.37:g.39990829delC	ENSP00000332806:p.Gly460fs						p.G460fs	NM_052846.1	NP_443078.1	Q9NT22	EMIL3_HUMAN			4	1572	-		Myeloproliferative disorder(115;0.00425)	460					Q495S5|Q495S6|Q495S7|Q76KT4	Frame_Shift_Del	DEL	ENST00000332312.3	37	c.1380delG	CCDS13316.1																																																																																				0.637	EMILIN3-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000106876.2	XM_029741		7	202						7	202	---	---	---	---
AP001604.3	0	broad.mit.edu	37	21	28793489	28793490	+	lincRNA	INS	-	-	T	rs34195125		TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr21:28793489_28793490insT	ENST00000420186.2	-	0	202																											atttttttttcttttttttttt	0.347																																						ENST00000420186.2																			0																																																			0							g.chr21:28793489_28793490insT																													21.37:g.28793500_28793500dupT														0	202	-									RNA	INS	ENST00000420186.2	37																																																																																						0.347	AP001604.3-001	KNOWN	basic	lincRNA	lincRNA	OTTHUMT00000171665.2			2	4						2	4	---	---	---	---
BRWD1	54014	broad.mit.edu	37	21	40649223	40649223	+	Frame_Shift_Del	DEL	A	A	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr21:40649223delA	ENST00000333229.2	-	11	1385	c.1058delT	c.(1057-1059)ttgfs	p.L353fs	BRWD1_ENST00000380800.3_Frame_Shift_Del_p.L353fs|BRWD1_ENST00000342449.3_Frame_Shift_Del_p.L353fs	NM_018963.4	NP_061836.2	Q9NSI6	BRWD1_HUMAN	bromodomain and WD repeat domain containing 1	353					cytoskeleton organization (GO:0007010)|regulation of cell shape (GO:0008360)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|transcription, DNA-templated (GO:0006351)	cytoplasm (GO:0005737)|nucleus (GO:0005634)				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58		Prostate(19;8.44e-08)|all_epithelial(19;0.223)				TTCAAAACCCAAAAAATACAT	0.323																																					Melanoma(170;988 1986 4794 16843 39731)	ENST00000342449.3																			0				cervix(2)|endometrium(6)|kidney(8)|large_intestine(14)|liver(2)|lung(13)|ovary(1)|pancreas(1)|prostate(2)|skin(7)|urinary_tract(2)	58						c.(1057-1059)tgfs		bromodomain and WD repeat domain containing 1							82.0	79.0	80.0					21																	40649223		2203	4300	6503	SO:0001589	frameshift_variant	54014				regulation of transcription, DNA-dependent|transcription, DNA-dependent	cytoplasm|nucleus		g.chr21:40649223delA	AJ002572	CCDS13662.1, CCDS13663.1, CCDS33557.1	21q22.2	2013-05-21	2005-05-13	2005-05-13	ENSG00000185658	ENSG00000185658		"""WD repeat domain containing"""	12760	protein-coding gene	gene with protein product			"""chromosome 21 open reading frame 107"", ""WD repeat domain 9"""	C21orf107, WDR9			Standard	NM_033656		Approved	FLJ11315, N143	uc002yxk.2	Q9NSI6	OTTHUMG00000066030	ENST00000333229.2:c.1058delT	21.37:g.40649223delA	ENSP00000330753:p.Leu353fs					BRWD1_ENST00000380800.3_Frame_Shift_Del_p.L353fs|BRWD1_ENST00000333229.2_Frame_Shift_Del_p.L353fs	p.L353fs	NM_033656.3	NP_387505.1	Q9NSI6	BRWD1_HUMAN			11	1136	-		Prostate(19;8.44e-08)|all_epithelial(19;0.223)	353					C9JK25|O43721|Q5R2V0|Q5R2V1|Q6P2D1|Q8TCV3|Q96QG9|Q96QH0|Q9NUK1	Frame_Shift_Del	DEL	ENST00000333229.2	37	c.1058delT	CCDS13662.1																																																																																				0.323	BRWD1-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000141398.3	NM_033656		8	42						8	42	---	---	---	---
KRTAP10-10	353333	broad.mit.edu	37	21	46057597	46057597	+	Frame_Shift_Del	DEL	C	C	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr21:46057597delC	ENST00000380095.1	+	1	325	c.263delC	c.(262-264)tccfs	p.S88fs	TSPEAR_ENST00000323084.4_Intron	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN	keratin associated protein 10-10	88	15 X 5 AA repeats of C-C-X(3).					keratin filament (GO:0045095)				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						TGCACCTCCTCCCcctgccag	0.642																																						ENST00000380095.1																			0				NS(1)|endometrium(2)|kidney(1)|lung(6)|prostate(1)|skin(2)	13						c.(262-264)tcfs		keratin associated protein 10-10							123.0	117.0	119.0					21																	46057597		2203	4300	6503	SO:0001589	frameshift_variant	353333					keratin filament		g.chr21:46057597delC	AJ566387	CCDS33585.1	21q22.3	2006-03-13			ENSG00000221859	ENSG00000221859		"""Keratin associated proteins"""	22972	protein-coding gene	gene with protein product							Standard	NM_181688		Approved	KAP10.10, KAP18.10, KRTAP18-10	uc002zfq.3	P60014	OTTHUMG00000057631	ENST00000380095.1:c.263delC	21.37:g.46057597delC	ENSP00000369438:p.Ser88fs					TSPEAR_ENST00000323084.4_Intron	p.S88fs	NM_181688.1	NP_859016.1	P60014	KR10A_HUMAN			1	325	+			88			15 X 5 AA repeats of C-C-X(3).			Frame_Shift_Del	DEL	ENST00000380095.1	37	c.263delC	CCDS33585.1																																																																																				0.642	KRTAP10-10-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000128034.1	NM_181688		57	147						57	147	---	---	---	---
RASL10A	10633	broad.mit.edu	37	22	29708273	29708273	+	IGR	DEL	G	G	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr22:29708273delG	ENST00000216101.6	-	0	1490				GAS2L1_ENST00000407647.2_3'UTR|GAS2L1_ENST00000407854.1_3'UTR|GAS2L1_ENST00000406549.3_Frame_Shift_Del_p.M384fs|GAS2L1_ENST00000471961.1_3'UTR|GAS2L1_ENST00000360113.2_3'UTR|GAS2L1_ENST00000403764.1_3'UTR|RASL10A_ENST00000608559.1_5'Flank	NM_006477.4	NP_006468.1	Q92737	RSLAA_HUMAN	RAS-like, family 10, member A						small GTPase mediated signal transduction (GO:0007264)	nucleus (GO:0005634)|plasma membrane (GO:0005886)	GTP binding (GO:0005525)|GTPase activity (GO:0003924)			NS(1)	1						GCCCTGGCATGGGGGGGCCAC	0.677																																						ENST00000406549.3																			0				endometrium(2)|lung(2)|prostate(1)	5						c.(1150-1152)atfs		growth arrest-specific 2 like 1			,,	7,3647		2,3,1822	32.0	39.0	37.0		,,	1.8	0.0	22	dbSNP_131	37	29,7839		10,9,3915	no	utr-3,frameshift,frameshift	GAS2L1	NM_152237.1,NM_152236.1,NM_006478.3	,,	12,12,5737	A1A1,A1R,RR		0.3686,0.1916,0.3124	,,	,,	29708273	36,11486	1917	4110	6027	SO:0001628	intergenic_variant	10634				cell cycle arrest	cytoplasm|cytoskeleton		g.chr22:29708273delG	Y07847	CCDS13854.1	22q12.2	2014-05-09			ENSG00000100276	ENSG00000100276			16954	protein-coding gene	gene with protein product		602220				8975699, 15731001	Standard	NM_006477		Approved	RRP22	uc031rxl.1	Q92737	OTTHUMG00000151106		22.37:g.29708273delG						GAS2L1_ENST00000407854.1_3'UTR|GAS2L1_ENST00000471961.1_3'UTR|GAS2L1_ENST00000407647.2_3'UTR|GAS2L1_ENST00000403764.1_3'UTR|GAS2L1_ENST00000360113.2_3'UTR	p.M384fs			Q99501	GA2L1_HUMAN			6	1302	+			393					Q49AU5|Q6PI03	Frame_Shift_Del	DEL	ENST00000216101.6	37	c.1152delG	CCDS13854.1																																																																																				0.677	RASL10A-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000321342.1			15	91						15	91	---	---	---	---
SERHL	94009	broad.mit.edu	37	22	42898666	42898666	+	RNA	DEL	C	C	-	rs375411583	byFrequency	TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chr22:42898666delC	ENST00000359906.2	+	0	409					NR_027786.1		Q9NQF3	SERHL_HUMAN	serine hydrolase-like								hydrolase activity (GO:0016787)			endometrium(1)|large_intestine(1)	2						CCATATGGTGCCCCCCCCCCA	0.592													|||unknown(HR)	137	0.0273562	0.0348	0.0288	5008	,	,		27362	0.0268		0.0129	False		,,,				2504	0.0317					ENST00000359906.2																			0				endometrium(1)|large_intestine(1)	2								serine hydrolase-like				58,659,3511		2,0,54,4,651,1403						0.9	0.1			70	152,913,7063		5,1,141,0,912,3005	no	intergenic				7,1,195,4,1563,4408	A1A1,A1A2,A1R,A2A2,A2R,RR		13.1029,16.9584,14.4221				210,1572,10574						94009							g.chr22:42898666delC	AL365513		22q13.2-q13.31	2009-10-06				ENSG00000172250			14408	protein-coding gene	gene with protein product	"""kraken-like"""	607979				11352564	Standard	NR_027786		Approved	HS126B42, BK126B4.1, dJ222E13.1	uc021wql.1	Q9NQF3			22.37:g.42898666delC								NR_027786.1						0	409	+								Q5JZ95|Q9UH21	RNA	DEL	ENST00000359906.2	37																																																																																						0.592	SERHL-001	KNOWN	basic	antisense	processed_transcript	OTTHUMT00000320498.2	NM_170694		9	13						9	13	---	---	---	---
PPP2R3B	28227	broad.mit.edu	37	X	302052	302052	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chrX:302052delT	ENST00000390665.3	-	9	1183	c.1165delA	c.(1165-1167)acafs	p.T389fs		NM_013239.4	NP_037371.2	Q9Y5P8	P2R3B_HUMAN	protein phosphatase 2, regulatory subunit B'', beta	389	EF-hand. {ECO:0000255|PROSITE- ProRule:PRU00448}.				cell cycle arrest (GO:0007050)|G1/S transition of mitotic cell cycle (GO:0000082)|mitotic cell cycle (GO:0000278)|protein dephosphorylation (GO:0006470)|regulation of catalytic activity (GO:0050790)	nucleoplasm (GO:0005654)|nucleus (GO:0005634)|protein phosphatase type 2A complex (GO:0000159)	calcium ion binding (GO:0005509)|phosphoprotein phosphatase activity (GO:0004721)|protein phosphatase type 2A regulator activity (GO:0008601)|protein serine/threonine phosphatase activity (GO:0004722)			endometrium(5)|lung(5)|skin(1)	11		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)				CTGGTCGGTGTTTTTTTGTCT	0.567																																						ENST00000390665.3																			0				endometrium(5)|lung(5)|skin(1)	11						c.(1165-1167)cafs		protein phosphatase 2, regulatory subunit B'', beta							227.0	246.0	240.0					X																	302052		1936	4146	6082	SO:0001589	frameshift_variant	28227				cell cycle arrest|protein dephosphorylation	nucleus|protein phosphatase type 2A complex	calcium ion binding|protein phosphatase type 2A regulator activity|protein serine/threonine phosphatase activity	g.chrX:302052delT	AF215840	CCDS14104.1	Xp22.3 and Yp11.3	2013-01-10	2010-06-18		ENSG00000167393	ENSG00000167393		"""Pseudoautosomal regions / PAR1"", ""Serine/threonine phosphatases / Protein phosphatase 2, regulatory subunits"", ""EF-hand domain containing"""	13417	protein-coding gene	gene with protein product		300339	"""protein phosphatase 2 (formerly 2A), regulatory subunit B'', beta"""	PPP2R3L		11173861	Standard	NM_013239		Approved	PPP2R3LY, PR48	uc004cpg.3	Q9Y5P8	OTTHUMG00000021052	ENST00000390665.3:c.1165delA	X.37:g.302052delT	ENSP00000375080:p.Thr389fs						p.T389fs	NM_013239.4	NP_037371.2	Q9Y5P8	P2R3B_HUMAN			9	1183	-		all_cancers(21;4.28e-07)|all_epithelial(21;2.07e-08)|all_lung(23;2.81e-05)|Lung NSC(23;0.000693)|Lung SC(21;0.122)	389			EF-hand.		Q6P4G9|Q7RTT1|Q96H01	Frame_Shift_Del	DEL	ENST00000390665.3	37	c.1165delA	CCDS14104.1																																																																																				0.567	PPP2R3B-001	KNOWN	basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000055577.2	NM_013239		7	612						7	612	---	---	---	---
MAGED1	9500	broad.mit.edu	37	X	51637752	51637752	+	Intron	DEL	C	C	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chrX:51637752delC	ENST00000375722.1	+	2	297				MAGED1_ENST00000375772.3_Intron|MAGED1_ENST00000326587.7_Intron|MAGED1_ENST00000494718.1_Intron|MAGED1_ENST00000375695.2_Frame_Shift_Del_p.H25fs			Q9Y5V3	MAGD1_HUMAN	melanoma antigen family D, 1						apoptotic process (GO:0006915)|apoptotic signaling pathway (GO:0097190)|circadian regulation of gene expression (GO:0032922)|negative regulation of epithelial cell proliferation (GO:0050680)|negative regulation of transcription, DNA-templated (GO:0045892)|neurotrophin TRK receptor signaling pathway (GO:0048011)|positive regulation of apoptotic process (GO:0043065)|positive regulation of apoptotic signaling pathway (GO:2001235)|positive regulation of branching involved in ureteric bud morphogenesis (GO:0090190)|positive regulation of MAP kinase activity (GO:0043406)|positive regulation of transcription, DNA-templated (GO:0045893)|regulation of apoptotic process (GO:0042981)|regulation of circadian rhythm (GO:0042752)|regulation of transcription from RNA polymerase II promoter (GO:0006357)|regulation of transcription, DNA-templated (GO:0006355)	chromatin (GO:0000785)|cytoplasm (GO:0005737)|nucleus (GO:0005634)|plasma membrane (GO:0005886)|protein complex (GO:0043234)	transcription coactivator activity (GO:0003713)			breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32	Ovarian(276;0.236)					CAGTCTGTCACCCCCTCCCCC	0.562										Multiple Myeloma(10;0.10)	OREG0019786	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)																										ENST00000375695.2																			0				breast(1)|endometrium(4)|large_intestine(10)|lung(13)|ovary(3)|upper_aerodigestive_tract(1)	32						c.(73-75)cafs		melanoma antigen family D, 1							37.0	34.0	35.0					X																	51637752		2203	4299	6502	SO:0001627	intron_variant	9500				apoptosis|induction of apoptosis by extracellular signals|negative regulation of epithelial cell proliferation|nerve growth factor receptor signaling pathway|regulation of transcription, DNA-dependent	cytoplasm|plasma membrane|protein complex	protein binding	g.chrX:51637752delC	AF124440	CCDS14337.1, CCDS35279.1	Xp11.23	2008-08-01			ENSG00000179222	ENSG00000179222			6813	protein-coding gene	gene with protein product		300224				10409427	Standard	NM_006986		Approved	NRAGE, DLXIN-1	uc004dpn.3	Q9Y5V3	OTTHUMG00000021540	ENST00000375722.1:c.45+307C>-	X.37:g.51637752delC		Multiple Myeloma(10;0.10)	OREG0019786	type=REGULATORY REGION|TFbs=CTCF|Dataset=CTCF ChIP-chip sites (Ren lab)|EvidenceSubtype=ChIP-on-chip (ChIP-chip)	978	MAGED1_ENST00000494718.1_Intron|MAGED1_ENST00000326587.7_Intron|MAGED1_ENST00000375772.3_Intron|MAGED1_ENST00000375722.1_Intron	p.H25fs	NM_001005333.1	NP_001005333.1	Q9Y5V3	MAGD1_HUMAN			3	228	+	Ovarian(276;0.236)		0					Q5VSH6|Q8IZ84|Q8WY92|Q9H352|Q9HBT4|Q9UF36	Frame_Shift_Del	DEL	ENST00000375722.1	37	c.75delC	CCDS14337.1																																																																																				0.562	MAGED1-005	KNOWN	alternative_5_UTR|basic|appris_principal|CCDS	protein_coding	protein_coding	OTTHUMT00000056593.1	NM_001005332		18	11						18	11	---	---	---	---
TAF7L	54457	broad.mit.edu	37	X	100538467	100538467	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chrX:100538467delT	ENST00000372907.3	-	4	519	c.508delA	c.(508-510)accfs	p.T170fs	TAF7L_ENST00000372905.2_Frame_Shift_Del_p.T84fs|TAF7L_ENST00000356784.1_Frame_Shift_Del_p.T84fs|TAF7L_ENST00000324762.6_Frame_Shift_Del_p.T84fs	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN	TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa	170					cell differentiation (GO:0030154)|multicellular organismal development (GO:0007275)|regulation of transcription, DNA-templated (GO:0006355)|spermatogenesis (GO:0007283)|transcription initiation from RNA polymerase II promoter (GO:0006367)	cytoplasm (GO:0005737)|transcription factor TFIID complex (GO:0005669)				NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						TTATAAAAGGTTTTTTTATCA	0.393																																					Ovarian(104;431 1530 3210 15406 18594)	ENST00000372907.3																			0				NS(1)|breast(4)|kidney(4)|large_intestine(4)|lung(7)|ovary(1)|pancreas(1)|skin(3)|upper_aerodigestive_tract(2)|urinary_tract(2)	29						c.(508-510)ccfs		TAF7-like RNA polymerase II, TATA box binding protein (TBP)-associated factor, 50kDa							156.0	156.0	156.0					X																	100538467		2203	4300	6503	SO:0001589	frameshift_variant	54457				cell differentiation|multicellular organismal development|regulation of transcription, DNA-dependent|spermatogenesis|transcription initiation from RNA polymerase II promoter	cytoplasm|transcription factor TFIID complex	binding	g.chrX:100538467delT	AF285595	CCDS35347.1, CCDS55466.1	Xq22.1	2009-03-25	2002-08-29	2001-12-07	ENSG00000102387	ENSG00000102387			11548	protein-coding gene	gene with protein product	"""cancer/testis antigen 40"""	300314	"""TATA box binding protein (TBP)-associated factor, RNA polymerase II, Q"""	TAF2Q		11279525	Standard	NM_024885		Approved	CT40	uc004ehb.3	Q5H9L4	OTTHUMG00000022021	ENST00000372907.3:c.508delA	X.37:g.100538467delT	ENSP00000361998:p.Thr170fs					TAF7L_ENST00000324762.6_Frame_Shift_Del_p.T84fs|TAF7L_ENST00000356784.1_Frame_Shift_Del_p.T84fs|TAF7L_ENST00000372905.2_Frame_Shift_Del_p.T84fs	p.T170fs	NM_024885.3	NP_079161.3	Q5H9L4	TAF7L_HUMAN			4	519	-			170					Q5H9L6|Q86XI4|Q9BXU5|Q9H5R0	Frame_Shift_Del	DEL	ENST00000372907.3	37	c.508delA	CCDS35347.1																																																																																				0.393	TAF7L-003	KNOWN	basic|appris_candidate_longest|CCDS	protein_coding	protein_coding	OTTHUMT00000057526.2			96	48						96	48	---	---	---	---
RNF128	79589	broad.mit.edu	37	X	105937256	105937256	+	Frame_Shift_Del	DEL	T	T	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chrX:105937256delT	ENST00000324342.3	+	1	189	c.24delT	c.(22-24)agtfs	p.S8fs		NM_024539.3	NP_078815.3	Q8TEB7	RN128_HUMAN	ring finger protein 128, E3 ubiquitin protein ligase	0					negative regulation of cytokine biosynthetic process (GO:0042036)	cytoskeleton (GO:0005856)|endoplasmic reticulum (GO:0005783)|Golgi apparatus (GO:0005794)|integral component of membrane (GO:0016021)|late endosome (GO:0005770)	ligase activity (GO:0016874)|ubiquitin-protein transferase activity (GO:0004842)|zinc ion binding (GO:0008270)			central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						ATAGGTCCAGTTTTTTTTGGC	0.343																																						ENST00000324342.3																			0				central_nervous_system(1)|endometrium(2)|large_intestine(1)|lung(6)|ovary(1)	11						c.(22-24)agfs		ring finger protein 128, E3 ubiquitin protein ligase							70.0	74.0	72.0					X																	105937256		2203	4297	6500	SO:0001589	frameshift_variant	79589					endomembrane system|integral to membrane|perinuclear region of cytoplasm	zinc ion binding	g.chrX:105937256delT	AK027169	CCDS14520.1, CCDS14521.1	Xq22.3	2013-01-09	2012-02-23		ENSG00000133135	ENSG00000133135		"""RING-type (C3HC4) zinc fingers"""	21153	protein-coding gene	gene with protein product		300439	"""ring finger protein 128"""				Standard	NM_024539		Approved	FLJ23516, GRAIL	uc004eml.3	Q8TEB7	OTTHUMG00000022151	ENST00000324342.3:c.24delT	X.37:g.105937256delT	ENSP00000316127:p.Ser8fs						p.S8fs	NM_024539.3	NP_078815.3	Q8TEB7	RN128_HUMAN			1	189	+			0					A0PJI4|Q6PH80|Q6ZTJ8|Q96RF3|Q9H5E4	Frame_Shift_Del	DEL	ENST00000324342.3	37	c.24delT	CCDS14520.1																																																																																				0.343	RNF128-002	KNOWN	basic|CCDS	protein_coding	protein_coding	OTTHUMT00000057805.1	NM_024539		14	7						14	7	---	---	---	---
RBMY2EP	159125	broad.mit.edu	37	Y	23563322	23563323	+	RNA	DEL	AC	AC	-			TCGA-CV-A6K1-01A-11D-A31L-08	TCGA-CV-A6K1-10A-01D-A31J-08								Untested	Somatic	Phase_I	WXS	none			Illumina GAIIx	1700b791-3cf4-42dc-b4b2-85f6c0831fab	87437504-fb16-463d-bb7a-a723443e75b9	g.chrY:23563322_23563323delAC	ENST00000444169.1	-	0	86					NR_001574.2				RNA binding motif protein, Y-linked, family 2, member E pseudogene																		ATATGAAAATacacacacacac	0.302																																						ENST00000444169.1																			0																																																			159125							g.chrY:23563322_23563323delAC	U94388		Yq11.223	2013-08-05			ENSG00000242300	ENSG00000223637			23890	pseudogene	pseudogene						12815422, 9344660	Standard	NR_001574		Approved		uc004fun.1		OTTHUMG00000042038		Y.37:g.23563332_23563333delAC								NR_001574.2						0	86	-									RNA	DEL	ENST00000444169.1	37																																																																																						0.302	RBMY2EP-002	KNOWN	basic	processed_transcript	pseudogene	OTTHUMT00000471819.1	NR_001574		7	56						7	56	---	---	---	---
